From a72151fd9669bac42ba4713adb083ad7336aab88 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Mon, 2 Dec 2024 21:25:51 -0500 Subject: [PATCH 1/2] Subclass Sync - Direct in source, indirect in Mondo - Mini build - Ran and updated outputs --- .../doid.subclass.added-obsolete.robot.tsv | 2 - .../reports/doid.subclass.added.robot.tsv | 7 + ...med-direct-source-indirect-mondo.robot.tsv | 2948 ++++++ .../reports/doid.subclass.confirmed.robot.tsv | 8 +- ...med-direct-source-indirect-mondo.robot.tsv | 99 + ...med-direct-source-indirect-mondo.robot.tsv | 2 + ...med-direct-source-indirect-mondo.robot.tsv | 139 + .../reports/ncit.subclass.added.robot.tsv | 1 + ...med-direct-source-indirect-mondo.robot.tsv | 415 + .../reports/ncit.subclass.confirmed.robot.tsv | 2 +- .../omim.subclass.added-obsolete.robot.tsv | 1 - .../reports/omim.subclass.added.robot.tsv | 1 + ...med-direct-source-indirect-mondo.robot.tsv | 831 ++ .../reports/omim.subclass.confirmed.robot.tsv | 6 +- .../reports/ordo.subclass.added.robot.tsv | 1 + ...med-direct-source-indirect-mondo.robot.tsv | 4538 +++++++++ .../reports/ordo.subclass.confirmed.robot.tsv | 2 - ...confirmed-direct-source-indirect-mondo.tsv | 8960 +++++++++++++++++ .../reports/sync-subClassOf.confirmed.tsv | 18 +- .../sync-subClassOf.direct-in-mondo-only.tsv | 150 +- 20 files changed, 18009 insertions(+), 122 deletions(-) create mode 100644 src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv create mode 100644 src/ontology/reports/icd10cm.subclass.confirmed-direct-source-indirect-mondo.robot.tsv create mode 100644 src/ontology/reports/icd10who.subclass.confirmed-direct-source-indirect-mondo.robot.tsv create mode 100644 src/ontology/reports/icd11foundation.subclass.confirmed-direct-source-indirect-mondo.robot.tsv create mode 100644 src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv create mode 100644 src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv create mode 100644 src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv create mode 100644 src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv diff --git a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv index d5192f86..83b7f4c9 100644 --- a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv @@ -219,8 +219,6 @@ MONDO:0008262 Poland syndrome MONDO:0000839 DOID:12961 DOID:0080015 obsolete con MONDO:0008331 obsolete pseudopapilledema MONDO:0001834 DOID:1392 DOID:1393 visual pathway disorder MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0000839 DOID:0060261 DOID:0080015 obsolete congenital abnormality MONDO:0008394 Silver-Russell syndrome MONDO:0000839 DOID:14681 DOID:0080015 obsolete congenital abnormality -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0000426 DOID:0080376 DOID:0050736 autosomal dominant disease -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0002254 DOID:0080376 DOID:225 syndromic disease MONDO:0008617 inflammatory bowel disease 11 MONDO:0000275 DOID:0110894 DOID:0050177 obsolete monogenic disease MONDO:0008652 congenital vertical talus MONDO:0000839 DOID:0111568 DOID:0080015 obsolete congenital abnormality MONDO:0008661 vitiligo MONDO:0017841 DOID:12306 DOID:0060039 obsolete autoimmune disease with skin involvement diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index df2c747b..618af72e 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -479,6 +479,7 @@ MONDO:0004004 motor nerve neuritis MONDO:0020128 DOID:683 DOID:231 motor neuron MONDO:0004015 pineal region teratoma MONDO:0002073 DOID:6856 DOID:1660 malignant pineal area germ cell neoplasm MONDO:0004022 parasagittal meningioma MONDO:0003774 DOID:6869 DOID:6114 cerebral convexity meningioma MONDO:0004024 spinal cord neuroblastoma MONDO:0006426 DOID:6871 DOID:6872 spinal cord primitive neuroectodermal tumor +MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 DOID:6898 DOID:4001 ovarian carcinoma MONDO:0004041 urothelial papilloma MONDO:0003442 DOID:6933 DOID:5432 bladder papillary urothelial neoplasm MONDO:0004050 telangiectatic osteogenic sarcoma MONDO:0002631 DOID:6951 DOID:7602 conventional osteosarcoma MONDO:0004077 lumbosacral lipoma MONDO:0000631 DOID:7017 DOID:0060094 bone benign neoplasm @@ -607,6 +608,7 @@ MONDO:0005077 pertussis MONDO:0000315 DOID:1116 DOID:0050339 commensal bacterial MONDO:0005097 squamous cell lung carcinoma MONDO:0005233 DOID:3907 DOID:3908 non-small cell lung carcinoma MONDO:0005101 ulcerative colitis MONDO:0000588 DOID:8577 DOID:0060031 autoimmune disorder of gastrointestinal tract MONDO:0005105 melanoma MONDO:0004992 DOID:1909 DOID:0050687 cancer +MONDO:0005112 malignant pleural mesothelioma MONDO:0005096 DOID:7474 DOID:1749 squamous cell carcinoma MONDO:0005118 human granulocytic ehrlichiosis MONDO:0016003 DOID:0050025 DOID:10242 ehrlichiosis MONDO:0005137 nutritional disorder MONDO:0006504 DOID:374 DOID:0060158 acquired metabolic disease MONDO:0005150 age-related macular degeneration MONDO:0000426 DOID:10871 DOID:0050736 autosomal dominant disease @@ -647,6 +649,7 @@ MONDO:0005462 primitive neuroectodermal tumor MONDO:0005872 DOID:171 DOID:3093 n MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0000628 DOID:2679 DOID:0060090 central nervous system organ benign neoplasm MONDO:0005508 hereditary multiple osteochondromas MONDO:0000426 DOID:206 DOID:0050736 autosomal dominant disease MONDO:0005509 histiocytoma MONDO:0000654 DOID:4231 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0005512 malignant peritoneal mesothelioma MONDO:0005096 DOID:1788 DOID:1749 squamous cell carcinoma MONDO:0005557 calcium metabolic disease MONDO:0024301 DOID:10575 DOID:0050032 acquired mineral metabolism disease MONDO:0005564 embryonal neoplasm MONDO:0005040 DOID:688 DOID:2994 germ cell tumor MONDO:0005596 cystadenocarcinoma MONDO:0859690 DOID:3111 DOID:60004 malignant cystadenoma @@ -980,6 +983,7 @@ MONDO:0007718 hepatic adenomas, familial MONDO:0006025 DOID:0111366 DOID:0050737 MONDO:0007726 hip dysplasia, Beukes type MONDO:0000426 DOID:0111367 DOID:0050736 autosomal dominant disease MONDO:0007726 hip dysplasia, Beukes type MONDO:0005178 DOID:0111367 DOID:8398 osteoarthritis MONDO:0007727 autosomal dominant familial periodic fever MONDO:0000426 DOID:0090018 DOID:0050736 autosomal dominant disease +MONDO:0007727 autosomal dominant familial periodic fever MONDO:0003778 DOID:0090018 DOID:612 inborn error of immunity MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000426 DOID:0060931 DOID:0050736 autosomal dominant disease MONDO:0007733 holoprosencephaly 3 MONDO:0000426 DOID:0110875 DOID:0050736 autosomal dominant disease MONDO:0007734 holoprosencephaly 4 MONDO:0000426 DOID:0110880 DOID:0050736 autosomal dominant disease @@ -3436,6 +3440,7 @@ MONDO:0017923 multiple synostoses syndrome MONDO:0000426 DOID:0050794 DOID:00507 MONDO:0018029 congenital factor XIII deficiency MONDO:0006025 DOID:2211 DOID:0050737 autosomal recessive disease MONDO:0018071 trisomy 18 MONDO:0000762 DOID:1085 DOID:0060429 syndrome caused by partial chromosomal duplication MONDO:0018088 familial Mediterranean fever MONDO:0000429 DOID:2987 DOID:0050739 autosomal genetic disease +MONDO:0018088 familial Mediterranean fever MONDO:0007179 DOID:2987 DOID:417 autoimmune disease MONDO:0018106 hereditary xanthinuria MONDO:0006025 DOID:0060236 DOID:0050737 autosomal recessive disease MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0006025 DOID:0070490 DOID:0050737 autosomal recessive disease MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0002350 DOID:0080388 DOID:2590 familial nephrotic syndrome @@ -3482,6 +3487,7 @@ MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0000426 DOID:0081126 DOID:0050736 a MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0002254 DOID:0081126 DOID:225 syndromic disease MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO:0003274 DOID:0080532 DOID:5093 thoracic cancer MONDO:0018767 severe primary trimethylaminuria MONDO:0006025 DOID:0080361 DOID:0050737 autosomal recessive disease +MONDO:0018768 familial cold autoinflammatory syndrome MONDO:0003778 DOID:0090061 DOID:612 inborn error of immunity MONDO:0018770 Jeune syndrome MONDO:0005497 DOID:0050592 DOID:0080006 bone development disease MONDO:0018772 Joubert syndrome MONDO:0005560 DOID:0050777 DOID:936 brain disorder MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0000425 DOID:0111862 DOID:0050735 X-linked disease @@ -4318,6 +4324,7 @@ MONDO:0800029 interstitial lung disease 2 MONDO:0000426 DOID:0060971 DOID:005073 MONDO:0800042 restrictive dermopathy 1 MONDO:0006025 DOID:0070369 DOID:0050737 autosomal recessive disease MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0006025 DOID:0060728 DOID:0050737 autosomal recessive disease MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0000426 DOID:0080944 DOID:0050736 autosomal dominant disease +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0003778 DOID:0080944 DOID:612 inborn error of immunity MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0000426 DOID:0090102 DOID:0050736 autosomal dominant disease MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0000426 DOID:0070020 DOID:0050736 autosomal dominant disease MONDO:0800368 cardiomyopathy, dilated, 1MM MONDO:0000426 DOID:0081158 DOID:0050736 autosomal dominant disease diff --git a/src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv new file mode 100644 index 00000000..13b70df0 --- /dev/null +++ b/src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -0,0 +1,2948 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source +MONDO:0000023 infantile liver failure MONDO:0005154 DOID:0080716 DOID:409 liver disorder +MONDO:0000050 isolated congenital growth hormone deficiency MONDO:0005152 DOID:0060870 DOID:9406 hypopituitarism +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0002254 DOID:0080688 DOID:225 syndromic disease +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0019950 DOID:0050560 DOID:0050557 congenital muscular dystrophy +MONDO:0000193 cortisone reductase deficiency MONDO:0005151 DOID:0090139 DOID:28 endocrine system disorder +MONDO:0000229 Indian tick typhus MONDO:0001195 DOID:0050042 DOID:11104 spotted fever +MONDO:0000230 Israeli tick typhus MONDO:0001195 DOID:0050043 DOID:11104 spotted fever +MONDO:0000231 Far eastern spotted fever MONDO:0001195 DOID:0050046 DOID:11104 spotted fever +MONDO:0000240 invasive aspergillosis MONDO:0005275 DOID:0050073 DOID:850 lung disorder +MONDO:0000240 invasive aspergillosis MONDO:0005657 DOID:0050073 DOID:13564 aspergillosis +MONDO:0000242 tinea barbae MONDO:0005093 DOID:0050096 DOID:37 skin disorder +MONDO:0000244 endothrix infectious disease MONDO:0002917 DOID:0050105 DOID:421 disorder of pilosebaceous unit +MONDO:0000248 dengue shock syndrome MONDO:0005502 DOID:0050125 DOID:12205 dengue disease +MONDO:0000250 osmotic diarrheal disease MONDO:0001673 DOID:0050130 DOID:13250 diarrheal disease +MONDO:0000255 subcutaneous mycosis MONDO:0002041 DOID:0050135 DOID:1564 fungal infectious disease +MONDO:0000261 adenoiditis MONDO:0004867 DOID:0050145 DOID:974 upper respiratory tract disorder +MONDO:0000263 laryngotracheitis MONDO:0004867 DOID:0050148 DOID:974 upper respiratory tract disorder +MONDO:0000266 pulmonary aspergilloma MONDO:0005275 DOID:0050153 DOID:850 lung disorder +MONDO:0000271 tuberculous salpingitis MONDO:0002156 DOID:0050166 DOID:1962 fallopian tube disorder +MONDO:0000290 primary amebic meningoencephalitis MONDO:0002602 DOID:0050242 DOID:331 central nervous system disorder +MONDO:0000291 granulomatous amebic encephalitis MONDO:0005560 DOID:0050246 DOID:936 brain disorder +MONDO:0000292 philophthalmiasis MONDO:0004664 DOID:0050250 DOID:883 helminthiasis +MONDO:0000293 coenurosis MONDO:0004664 DOID:0050251 DOID:883 helminthiasis +MONDO:0000294 mesocestoidiasis MONDO:0004664 DOID:0050253 DOID:883 helminthiasis +MONDO:0000297 baylisascariasis MONDO:0004664 DOID:0050259 DOID:883 helminthiasis +MONDO:0000298 dioctophymiasis MONDO:0004664 DOID:0050260 DOID:883 helminthiasis +MONDO:0000299 thelaziasis MONDO:0004664 DOID:0050261 DOID:883 helminthiasis +MONDO:0000301 ophthalmomyiasis MONDO:0019147 DOID:0050268 DOID:11080 myiasis +MONDO:0000304 penicilliosis MONDO:0002312 DOID:0050288 DOID:2473 opportunistic mycosis +MONDO:0000306 trichosporonosis MONDO:0002312 DOID:0050290 DOID:2473 opportunistic mycosis +MONDO:0000334 multinodular goiter MONDO:0005397 DOID:0050489 DOID:12176 goiter +MONDO:0000339 spinal polio MONDO:0002545 DOID:0050513 DOID:319 spinal cord disorder +MONDO:0000341 paralytic poliomyelitis MONDO:0002602 DOID:0050515 DOID:331 central nervous system disorder +MONDO:0000342 O'nyong'nyong fever MONDO:0005108 DOID:0050516 DOID:934 viral infectious disease +MONDO:0000343 Barmah forest virus disease MONDO:0005108 DOID:0050517 DOID:934 viral infectious disease +MONDO:0000344 Ross river fever MONDO:0005108 DOID:0050518 DOID:934 viral infectious disease +MONDO:0000345 Oropouche fever MONDO:0005108 DOID:0050521 DOID:934 viral infectious disease +MONDO:0000351 disorder of methionine catabolism MONDO:0004736 DOID:0050544 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0000365 primary congenital glaucoma MONDO:0005041 DOID:0050593 DOID:1686 glaucoma +MONDO:0000367 taeniasis MONDO:0004664 DOID:0050596 DOID:883 helminthiasis +MONDO:0000371 oral cavity carcinoma in situ MONDO:0006858 DOID:0050610 DOID:403 mouth disorder +MONDO:0000373 gall bladder carcinoma in situ MONDO:0005281 DOID:0050612 DOID:0060262 gallbladder disorder +MONDO:0000374 bile duct carcinoma in situ MONDO:0002887 DOID:0050613 DOID:4138 bile duct disorder +MONDO:0000374 bile duct carcinoma in situ MONDO:0004647 DOID:0050613 DOID:8719 in situ carcinoma +MONDO:0000375 bronchus carcinoma in situ MONDO:0001358 DOID:0050614 DOID:1176 bronchial disorder +MONDO:0000375 bronchus carcinoma in situ MONDO:0004647 DOID:0050614 DOID:8719 in situ carcinoma +MONDO:0000380 paranasal sinus carcinoma MONDO:0000376 DOID:0050619 DOID:0050615 respiratory system cancer +MONDO:0000380 paranasal sinus carcinoma MONDO:0001735 DOID:0050619 DOID:1352 paranasal sinus disorder +MONDO:0000383 benign reproductive system neoplasm MONDO:0005039 DOID:0050622 DOID:15 reproductive system disorder +MONDO:0000384 bladder benign neoplasm MONDO:0006026 DOID:0050623 DOID:365 urinary bladder disorder +MONDO:0000402 small cell carcinoma MONDO:0004993 DOID:0050685 DOID:305 carcinoma +MONDO:0000409 chorioamnionitis MONDO:0005917 DOID:0050697 DOID:780 placenta disorder +MONDO:0000421 inborn serine deficiency MONDO:0004736 DOID:0050721 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0000450 secondary progressive multiple sclerosis MONDO:0005301 DOID:0050783 DOID:2377 multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis MONDO:0005301 DOID:0050784 DOID:2377 multiple sclerosis +MONDO:0000452 progressive relapsing multiple sclerosis MONDO:0005301 DOID:0050785 DOID:2377 multiple sclerosis +MONDO:0000455 cone dystrophy MONDO:0005283 DOID:0050795 DOID:5679 retinal disorder +MONDO:0000461 nutritional biotin deficiency MONDO:0006873 DOID:0050810 DOID:5113 nutritional deficiency disease +MONDO:0000469 sinoatrial node disorder MONDO:0003939 DOID:0050824 DOID:0080000 muscle tissue disorder +MONDO:0000474 pericardium disorder MONDO:0004995 DOID:0050829 DOID:1287 cardiovascular disorder +MONDO:0000476 generalized dystonia MONDO:0003441 DOID:0050835 DOID:543 dystonic disorder +MONDO:0000488 periampullary adenoma MONDO:0004972 DOID:0050849 DOID:657 adenoma +MONDO:0000494 renal fibrosis MONDO:0005240 DOID:0050855 DOID:557 kidney disorder +MONDO:0000500 tongue squamous cell carcinoma MONDO:0010150 DOID:0050865 DOID:5520 head and neck squamous cell carcinoma +MONDO:0000510 synucleinopathy MONDO:0005559 DOID:0050890 DOID:1289 neurodegenerative disease +MONDO:0000519 corpus callosum oligodendroglioma MONDO:0016695 DOID:0050901 DOID:3181 oligodendroglioma +MONDO:0000521 salivary gland carcinoma MONDO:0004993 DOID:0050904 DOID:305 carcinoma +MONDO:0000525 cecum villous adenoma MONDO:0004972 DOID:0050910 DOID:657 adenoma +MONDO:0000527 colon adenoma MONDO:0004972 DOID:0050912 DOID:657 adenoma +MONDO:0000530 rectum adenoma MONDO:0002165 DOID:0050915 DOID:1984 rectal neoplasm +MONDO:0000530 rectum adenoma MONDO:0004972 DOID:0050915 DOID:657 adenoma +MONDO:0000531 bronchus mucoepidermoid carcinoma MONDO:0003036 DOID:0050916 DOID:4531 mucoepidermoid carcinoma +MONDO:0000532 lung combined type small cell adenocarcinoma MONDO:0004970 DOID:0050917 DOID:299 adenocarcinoma +MONDO:0000534 trachea mucoepidermoid carcinoma MONDO:0001407 DOID:0050919 DOID:11920 tracheal cancer +MONDO:0000536 pharyngeal squamous cell carcinoma MONDO:0005096 DOID:0050921 DOID:1749 squamous cell carcinoma +MONDO:0000540 small intestinal neuroendocrine tumor G1 MONDO:0019496 DOID:0050925 DOID:169 neuroendocrine neoplasm +MONDO:0000541 jejunal adenocarcinoma MONDO:0004970 DOID:0050926 DOID:299 adenocarcinoma +MONDO:0000544 mucosal melanoma MONDO:0005105 DOID:0050929 DOID:1909 melanoma +MONDO:0000545 sublingual gland adenoid cystic carcinoma MONDO:0004667 DOID:0050930 DOID:8849 sublingual gland cancer +MONDO:0000552 breast lobular carcinoma MONDO:0004989 DOID:0050938 DOID:3459 breast carcinoma +MONDO:0000554 endocervical adenocarcinoma MONDO:0004970 DOID:0050940 DOID:299 adenocarcinoma +MONDO:0000596 paraphilic disorder MONDO:0000595 DOID:0060044 DOID:0060043 sexual and gender identity disorders +MONDO:0000608 familial juvenile hyperuricemic nephropathy MONDO:0005240 DOID:0060062 DOID:557 kidney disorder +MONDO:0000615 progesterone-receptor positive breast cancer MONDO:0007254 DOID:0060077 DOID:1612 breast cancer +MONDO:0000616 progesterone-receptor negative breast cancer MONDO:0007254 DOID:0060078 DOID:1612 breast cancer +MONDO:0000618 Her2-receptor negative breast cancer MONDO:0007254 DOID:0060080 DOID:1612 breast cancer +MONDO:0000620 breast benign neoplasm MONDO:0002657 DOID:0060082 DOID:3463 breast disorder +MONDO:0000624 benign female reproductive system neoplasm MONDO:0002263 DOID:0060086 DOID:229 female reproductive system disorder +MONDO:0000626 vestibular gland benign neoplasm MONDO:0000624 DOID:0060088 DOID:0060086 benign female reproductive system neoplasm +MONDO:0000628 central nervous system organ benign neoplasm MONDO:0002602 DOID:0060090 DOID:331 central nervous system disorder +MONDO:0000629 cardiovascular organ benign neoplasm MONDO:0004995 DOID:0060091 DOID:1287 cardiovascular disorder +MONDO:0000631 bone benign neoplasm MONDO:0005381 DOID:0060094 DOID:0080001 bone disorder +MONDO:0000632 uterine benign neoplasm MONDO:0002654 DOID:0060095 DOID:345 uterine disorder +MONDO:0000643 vulvar benign neoplasm MONDO:0002187 DOID:0060109 DOID:2059 vulvar disease +MONDO:0000644 cervical benign neoplasm MONDO:0002256 DOID:0060110 DOID:2253 cervix disorder +MONDO:0000645 fallopian tube benign neoplasm MONDO:0002156 DOID:0060111 DOID:1962 fallopian tube disorder +MONDO:0000646 ovarian benign neoplasm MONDO:0005558 DOID:0060112 DOID:1100 ovarian disorder +MONDO:0000647 benign vaginal neoplasm MONDO:0001433 DOID:0060114 DOID:121 vaginal disorder +MONDO:0000648 nervous system benign neoplasm MONDO:0005071 DOID:0060115 DOID:863 nervous system disorder +MONDO:0000664 apperceptive agnosia MONDO:0005638 DOID:0060134 DOID:4090 agnosia +MONDO:0000666 associative visual agnosia MONDO:0005638 DOID:0060136 DOID:4090 agnosia +MONDO:0000669 color agnosia MONDO:0005638 DOID:0060139 DOID:4090 agnosia +MONDO:0000670 cortical deafness MONDO:0005638 DOID:0060140 DOID:4090 agnosia +MONDO:0000672 form agnosia MONDO:0005638 DOID:0060142 DOID:4090 agnosia +MONDO:0000684 verbal auditory agnosia MONDO:0005638 DOID:0060154 DOID:4090 agnosia +MONDO:0000700 familial hemiplegic migraine MONDO:0005475 DOID:0060178 DOID:10024 migraine with aura +MONDO:0000705 Clostridium difficile colitis MONDO:0005292 DOID:0060185 DOID:0060180 colitis +MONDO:0000708 Crohn jejunoileitis MONDO:0005011 DOID:0060188 DOID:8778 Crohn disease +MONDO:0000709 Crohn ileitis MONDO:0005011 DOID:0060189 DOID:8778 Crohn disease +MONDO:0000710 gastroduodenal Crohn disease MONDO:0005011 DOID:0060191 DOID:8778 Crohn disease +MONDO:0000722 non-syndromic synpolydactyly MONDO:0021002 DOID:0060242 DOID:11193 syndactyly +MONDO:0000727 scapuloperoneal myopathy MONDO:0020121 DOID:0060253 DOID:9884 muscular dystrophy +MONDO:0000732 combined oxidative phosphorylation deficiency MONDO:0004069 DOID:0060286 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0000736 dyschromatosis universalis hereditaria MONDO:0019288 DOID:0060304 DOID:10123 skin pigmentation disorder +MONDO:0000757 glucocorticoid-induced osteoporosis MONDO:0005298 DOID:0060343 DOID:11476 osteoporosis +MONDO:0000813 cardiac tuberculosis MONDO:0018076 DOID:0060570 DOID:399 tuberculosis +MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0005062 DOID:0060592 DOID:0060058 lymphoma +MONDO:0000840 dysbaric osteonecrosis MONDO:0005380 DOID:0080018 DOID:0080008 osteonecrosis +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:0005062 DOID:0080146 DOID:0060058 lymphoma +MONDO:0000873 lymphoblastic lymphoma MONDO:0005062 DOID:0080147 DOID:0060058 lymphoma +MONDO:0000879 cutaneous candidiasis MONDO:0005093 DOID:0080161 DOID:37 skin disorder +MONDO:0000890 Zika virus congenital syndrome MONDO:0002254 DOID:0080180 DOID:225 syndromic disease +MONDO:0000892 colon medullary carcinoma MONDO:0002032 DOID:0080183 DOID:1520 colon carcinoma +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0005559 DOID:0090003 DOID:1289 neurodegenerative disease +MONDO:0000903 myoclonus-dystonia syndrome MONDO:0003441 DOID:0090033 DOID:543 dystonic disorder +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO:0016587 DOID:0110084 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0000909 Bartter disease type 4B MONDO:0015231 DOID:0110146 DOID:445 Bartter syndrome +MONDO:0000916 intestinal infectious disease MONDO:0005020 DOID:100 DOID:5295 intestinal disorder +MONDO:0000919 ampulla of vater cancer MONDO:0003059 DOID:10020 DOID:4606 bile duct cancer +MONDO:0000920 duodenum cancer MONDO:0002866 DOID:10021 DOID:4072 duodenal disorder +MONDO:0000921 ampulla of vater neoplasm MONDO:0002887 DOID:10022 DOID:4138 bile duct disorder +MONDO:0000921 ampulla of vater neoplasm MONDO:0005304 DOID:10022 DOID:0050625 biliary tract neoplasm +MONDO:0000925 hyperlucent lung MONDO:0005275 DOID:10032 DOID:850 lung disorder +MONDO:0000936 syphilitic meningitis MONDO:0006670 DOID:10073 DOID:9470 bacterial meningitis +MONDO:0000937 syphilitic encephalitis MONDO:0019956 DOID:10081 DOID:9588 encephalitis +MONDO:0000938 gastric leiomyoma MONDO:0000385 DOID:10087 DOID:0050624 benign digestive system neoplasm +MONDO:0000939 intracranial abscess MONDO:0002602 DOID:10095 DOID:331 central nervous system disorder +MONDO:0000944 cerebral artery occlusion MONDO:0011057 DOID:10127 DOID:6713 cerebrovascular disorder +MONDO:0000951 thymus lymphoma MONDO:0005062 DOID:10146 DOID:0060058 lymphoma +MONDO:0000952 cancer of long bone of lower limb MONDO:0002129 DOID:10149 DOID:184 bone cancer +MONDO:0000953 cancer of short bone of lower limb MONDO:0002129 DOID:10151 DOID:184 bone cancer +MONDO:0000958 neuroretinitis MONDO:0005328 DOID:10176 DOID:5614 eye disorder +MONDO:0000963 esophageal lipoma MONDO:0000385 DOID:10187 DOID:0050624 benign digestive system neoplasm +MONDO:0000963 esophageal lipoma MONDO:0003749 DOID:10187 DOID:6050 esophageal disorder +MONDO:0000964 skin lipoma MONDO:0002531 DOID:10188 DOID:3165 skin neoplasm +MONDO:0000969 pleural lipoma MONDO:0000382 DOID:10195 DOID:0050621 respiratory system benign neoplasm +MONDO:0000969 pleural lipoma MONDO:0002037 DOID:10195 DOID:1532 pleural disorder +MONDO:0000971 chest wall lipoma MONDO:0000634 DOID:10200 DOID:0060097 thoracic benign neoplasm +MONDO:0000974 axillary lipoma MONDO:0000634 DOID:10205 DOID:0060097 thoracic benign neoplasm +MONDO:0000978 extrahepatic bile duct lipoma MONDO:0002887 DOID:10209 DOID:4138 bile duct disorder +MONDO:0000978 extrahepatic bile duct lipoma MONDO:0005106 DOID:10209 DOID:3315 lipoma +MONDO:0000978 extrahepatic bile duct lipoma MONDO:0005304 DOID:10209 DOID:0050625 biliary tract neoplasm +MONDO:0001005 kaolin pneumoconiosis MONDO:0015926 DOID:10331 DOID:10316 pneumoconiosis +MONDO:0001036 hypopyon MONDO:0004773 DOID:10443 DOID:9383 iridocyclitis +MONDO:0001052 chronic fungal otitis externa MONDO:0002041 DOID:10519 DOID:1564 fungal infectious disease +MONDO:0001053 acute infection of pinna MONDO:0004795 DOID:10520 DOID:9463 otitis externa +MONDO:0001055 conjunctival pterygium MONDO:0006170 DOID:10526 DOID:4251 conjunctival disorder +MONDO:0001056 gastric cancer MONDO:0004298 DOID:10534 DOID:76 stomach disorder +MONDO:0001059 gastric lymphoma MONDO:0005062 DOID:10540 DOID:0060058 lymphoma +MONDO:0001065 supine hypotensive syndrome MONDO:0005385 DOID:10556 DOID:178 vascular disorder +MONDO:0001078 tropical sprue MONDO:0005020 DOID:10607 DOID:5295 intestinal disorder +MONDO:0001082 lymph node cancer MONDO:0004928 DOID:10619 DOID:9942 lymph node disorder +MONDO:0001091 lipoma of colon MONDO:0003409 DOID:10655 DOID:5353 colonic disorder +MONDO:0001092 colon leiomyoma MONDO:0003409 DOID:10656 DOID:5353 colonic disorder +MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0003098 DOID:10661 DOID:4691 mediastinal neural neoplasm +MONDO:0001119 premature menopause MONDO:0001889 DOID:10787 DOID:1414 ovarian dysfunction +MONDO:0001125 acute gonococcal epididymo-orchitis MONDO:0004778 DOID:10802 DOID:9401 epididymo-orchitis +MONDO:0001128 nasal cavity cancer MONDO:0002232 DOID:10811 DOID:2163 nasal cavity disorder +MONDO:0001136 chylocele of tunica vaginalis MONDO:0003150 DOID:10835 DOID:48 male reproductive system disorder +MONDO:0001137 Murray valley encephalitis MONDO:0005108 DOID:10842 DOID:934 viral infectious disease +MONDO:0001170 hemiplegia MONDO:0002602 DOID:10969 DOID:331 central nervous system disorder +MONDO:0001184 chronic rapidly progressive glomerulonephritis MONDO:0002462 DOID:11036 DOID:2921 glomerulonephritis +MONDO:0001187 urinary bladder cancer MONDO:0006026 DOID:11054 DOID:365 urinary bladder disorder +MONDO:0001188 esophagus lymphoma MONDO:0005062 DOID:1106 DOID:0060058 lymphoma +MONDO:0001203 prolapse of lacrimal gland MONDO:0001854 DOID:11134 DOID:1400 lacrimal apparatus disorder +MONDO:0001204 esophagus sarcoma MONDO:0005089 DOID:1114 DOID:1115 sarcoma +MONDO:0001207 neonatal respiratory failure MONDO:0021113 DOID:11161 DOID:11162 respiratory failure +MONDO:0001213 serous glue ear MONDO:0001212 DOID:11181 DOID:11180 non-suppurative otitis media +MONDO:0001221 esophageal varices MONDO:0004634 DOID:112 DOID:866 vein disorder +MONDO:0001227 chronic tympanitis MONDO:0003648 DOID:11217 DOID:5782 tympanic membrane disorder +MONDO:0001235 appendix cancer MONDO:0005814 DOID:11239 DOID:10155 intestinal cancer +MONDO:0001235 appendix cancer MONDO:0056798 DOID:11239 DOID:60000 disorder of appendix +MONDO:0001236 appendiceal neoplasm MONDO:0021118 DOID:11240 DOID:4610 intestinal neoplasm +MONDO:0001237 appendix lymphoma MONDO:0005062 DOID:11241 DOID:0060058 lymphoma +MONDO:0001244 vitamin K deficiency hemorrhagic disease MONDO:0006873 DOID:11249 DOID:5113 nutritional deficiency disease +MONDO:0001249 trachoma MONDO:0000315 DOID:11265 DOID:0050339 commensal bacterial infectious disease +MONDO:0001258 vertebral artery occlusion MONDO:0000473 DOID:11299 DOID:0050828 arterial disorder +MONDO:0001260 cercarial dermatitis MONDO:0005093 DOID:11302 DOID:37 skin disorder +MONDO:0001262 African histoplasmosis MONDO:0018312 DOID:11315 DOID:1731 histoplasmosis +MONDO:0001266 erysipelas MONDO:0002406 DOID:11330 DOID:2723 dermatitis +MONDO:0001275 spinal meningioma MONDO:0016642 DOID:1138 DOID:3565 meningioma +MONDO:0001290 allergic cutaneous vasculitis MONDO:0005271 DOID:11450 DOID:1205 allergic disease +MONDO:0001313 acute allergic serous otitis media MONDO:0005271 DOID:11558 DOID:1205 allergic disease +MONDO:0001322 pericardium cancer MONDO:0000474 DOID:116 DOID:0050829 pericardium disorder +MONDO:0001323 infant gynecomastia MONDO:0002657 DOID:11603 DOID:3463 breast disorder +MONDO:0001325 penile cancer MONDO:0002036 DOID:11615 DOID:1529 penile disorder +MONDO:0001340 heart cancer MONDO:0005267 DOID:117 DOID:114 heart disorder +MONDO:0001341 selective IgA deficiency disease MONDO:0002211 DOID:0060025 DOID:2115 B cell deficiency +MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0020121 DOID:11727 DOID:9884 muscular dystrophy +MONDO:0001350 parametrium malignant neoplasm MONDO:0001351 DOID:11746 DOID:11747 uterine adnexa cancer +MONDO:0001356 iron deficiency anemia MONDO:0001245 DOID:11758 DOID:11252 microcytic anemia +MONDO:0001365 necrosis of ear ossicle MONDO:0002409 DOID:11783 DOID:2742 auditory system disorder +MONDO:0001367 chronic congestive splenomegaly MONDO:0002332 DOID:11787 DOID:2529 splenic disorder +MONDO:0001374 bladder sarcoma MONDO:0005089 DOID:11812 DOID:1115 sarcoma +MONDO:0001375 bladder trigone cancer MONDO:0001187 DOID:11813 DOID:11054 urinary bladder cancer +MONDO:0001379 ureteric orifice cancer MONDO:0001187 DOID:11818 DOID:11054 urinary bladder cancer +MONDO:0001386 visual epilepsy MONDO:0005027 DOID:11832 DOID:1826 epilepsy +MONDO:0001387 penile sarcoma MONDO:0005089 DOID:11838 DOID:1115 sarcoma +MONDO:0001398 ureter benign neoplasm MONDO:0001926 DOID:11885 DOID:1426 ureteral disorder +MONDO:0001402 vaginal cancer MONDO:0001433 DOID:119 DOID:121 vaginal disorder +MONDO:0001407 tracheal cancer MONDO:0002567 DOID:11920 DOID:3225 tracheal disorder +MONDO:0001416 female reproductive organ cancer MONDO:0002263 DOID:120 DOID:229 female reproductive system disorder +MONDO:0001418 trachea sarcoma MONDO:0005089 DOID:12002 DOID:1115 sarcoma +MONDO:0001449 lymphocytic choriomeningitis MONDO:0005108 DOID:12155 DOID:934 viral infectious disease +MONDO:0001461 tinea corporis MONDO:0005093 DOID:12179 DOID:37 skin disorder +MONDO:0001470 anal margin squamous cell carcinoma MONDO:0005096 DOID:12239 DOID:1749 squamous cell carcinoma +MONDO:0001516 spinal muscular atrophy MONDO:0020128 DOID:12377 DOID:231 motor neuron disorder +MONDO:0001528 vulva cancer MONDO:0002187 DOID:1245 DOID:2059 vulvar disease +MONDO:0001530 secondary hyperparathyroidism of renal origin MONDO:0005240 DOID:12465 DOID:557 kidney disorder +MONDO:0001532 capillariasis MONDO:0004664 DOID:12474 DOID:883 helminthiasis +MONDO:0001537 tuberculous epididymitis MONDO:0006002 DOID:1251 DOID:2149 urogenital tuberculosis +MONDO:0001568 mixed receptive-expressive language disorder MONDO:0002182 DOID:12685 DOID:2033 communication disorder +MONDO:0001572 leiomyoma MONDO:0005165 DOID:127 DOID:0060084 benign neoplasm +MONDO:0001577 respiratory syncytial virus infectious disease MONDO:0005108 DOID:1273 DOID:934 viral infectious disease +MONDO:0001590 quadriplegia MONDO:0002602 DOID:12835 DOID:331 central nervous system disorder +MONDO:0001593 rectal disorder MONDO:0005020 DOID:1285 DOID:5295 intestinal disorder +MONDO:0001618 balanoposthitis MONDO:0002036 DOID:13031 DOID:1529 penile disorder +MONDO:0001628 tinea unguium MONDO:0002884 DOID:13074 DOID:4123 nail disorder +MONDO:0001638 protein-deficiency anemia MONDO:0002280 DOID:13120 DOID:2355 anemia +MONDO:0001642 hordeolum externum MONDO:0004785 DOID:13134 DOID:9423 blepharitis +MONDO:0001644 acute proliferative glomerulonephritis MONDO:0002462 DOID:13138 DOID:2921 glomerulonephritis +MONDO:0001648 esophageal candidiasis MONDO:0003749 DOID:13146 DOID:6050 esophageal disorder +MONDO:0001657 brain cancer MONDO:0005560 DOID:1319 DOID:936 brain disorder +MONDO:0001672 bronchus cancer MONDO:0001358 DOID:1325 DOID:1176 bronchial disorder +MONDO:0001678 intestinal tuberculosis MONDO:0005020 DOID:13282 DOID:5295 intestinal disorder +MONDO:0001699 tinea manuum MONDO:0005093 DOID:13369 DOID:37 skin disorder +MONDO:0001702 labia majora carcinoma MONDO:0002898 DOID:13389 DOID:4159 skin cancer +MONDO:0001706 cerebral sarcoidosis MONDO:0019338 DOID:13403 DOID:11335 sarcoidosis +MONDO:0001708 pulmonary sarcoidosis MONDO:0005275 DOID:13406 DOID:850 lung disorder +MONDO:0001710 perforation of bile duct MONDO:0004868 DOID:13409 DOID:9741 biliary tract disorder +MONDO:0001712 alexia MONDO:0005638 DOID:13417 DOID:4090 agnosia +MONDO:0001714 bejel MONDO:0000314 DOID:13431 DOID:0050338 primary bacterial infectious disease +MONDO:0001715 basilar artery occlusion MONDO:0000473 DOID:13446 DOID:0050828 arterial disorder +MONDO:0001733 occlusion of tributary of retinal vein MONDO:0002089 DOID:13514 DOID:1729 retinal vascular occlusion +MONDO:0001734 tuberous sclerosis MONDO:0002254 DOID:13515 DOID:225 syndromic disease +MONDO:0001740 cornea squamous cell carcinoma MONDO:0005096 DOID:13538 DOID:1749 squamous cell carcinoma +MONDO:0001743 paranasal sinus lymphoma MONDO:0005062 DOID:1355 DOID:0060058 lymphoma +MONDO:0001750 non-renal secondary hyperparathyroidism MONDO:0001741 DOID:13575 DOID:13543 hyperparathyroidism +MONDO:0001758 paranasal sinus sarcoma MONDO:0005089 DOID:1362 DOID:1115 sarcoma +MONDO:0001769 acquired tear duct stenosis MONDO:0001854 DOID:13655 DOID:1400 lacrimal apparatus disorder +MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0000632 DOID:1371 DOID:0060095 uterine benign neoplasm +MONDO:0001783 endometrial stromal nodule MONDO:0000632 DOID:1373 DOID:0060095 uterine benign neoplasm +MONDO:0001790 spinal cord lipoma MONDO:0002545 DOID:13743 DOID:319 spinal cord disorder +MONDO:0001791 neonatal urinary tract infectious disease MONDO:0002118 DOID:1375 DOID:18 urinary system disorder +MONDO:0001794 Pthirus pubis infestation MONDO:0005093 DOID:13760 DOID:37 skin disorder +MONDO:0001795 plantar wart MONDO:0005108 DOID:13775 DOID:934 viral infectious disease +MONDO:0001802 acute tympanitis MONDO:0003648 DOID:13790 DOID:5782 tympanic membrane disorder +MONDO:0001824 polyneuropathy MONDO:0003620 DOID:1389 DOID:574 peripheral nervous system disorder +MONDO:0001827 white piedra MONDO:0024268 DOID:13902 DOID:0050133 superficial mycosis +MONDO:0001829 lumbosacral plexus lesion MONDO:0003620 DOID:13913 DOID:574 peripheral nervous system disorder +MONDO:0001833 lacrimal duct obstruction MONDO:0001854 DOID:13929 DOID:1400 lacrimal apparatus disorder +MONDO:0001838 acute gonococcal prostatitis MONDO:0005280 DOID:13943 DOID:14654 prostatitis +MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0000632 DOID:13958 DOID:0060095 uterine benign neoplasm +MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0001572 DOID:13958 DOID:127 leiomyoma +MONDO:0001852 small intestine lymphoma MONDO:0005062 DOID:13996 DOID:0060058 lymphoma +MONDO:0001869 paraurethral gland cancer MONDO:0001416 DOID:14059 DOID:120 female reproductive organ cancer +MONDO:0001876 renal artery atheroma MONDO:0005311 DOID:14092 DOID:1936 atherosclerosis +MONDO:0001878 acquired hypertrophic pyloric stenosis MONDO:0001561 DOID:14099 DOID:12639 pyloric stenosis +MONDO:0001879 anus cancer MONDO:0002519 DOID:14110 DOID:3128 anus disorder +MONDO:0001879 anus cancer MONDO:0005575 DOID:14110 DOID:5672 colorectal cancer +MONDO:0001888 anus lymphoma MONDO:0005062 DOID:14139 DOID:0060058 lymphoma +MONDO:0001892 spinal cord lymphoma MONDO:0003641 DOID:14150 DOID:5772 central nervous system hematopoietic neoplasm +MONDO:0001892 spinal cord lymphoma MONDO:0005062 DOID:14150 DOID:0060058 lymphoma +MONDO:0001893 spinal cord melanoma MONDO:0005105 DOID:14151 DOID:1909 melanoma +MONDO:0001894 spinal cord sarcoma MONDO:0005089 DOID:14152 DOID:1115 sarcoma +MONDO:0001895 acute retrobulbar neuritis MONDO:0005885 DOID:14155 DOID:1210 optic neuritis +MONDO:0001901 selective IgG subclass deficiency MONDO:0001342 DOID:14176 DOID:11702 dysgammaglobulinemia +MONDO:0001902 congenital agammaglobulinemia MONDO:0002211 DOID:14177 DOID:2115 B cell deficiency +MONDO:0001906 posterior dislocation of lens MONDO:0005328 DOID:14199 DOID:1242 eye disorder +MONDO:0001914 scleromalacia perforans MONDO:0001269 DOID:14230 DOID:11343 scleral disorder +MONDO:0001939 skin epithelioid hemangioma MONDO:0002531 DOID:14308 DOID:3165 skin neoplasm +MONDO:0001939 skin epithelioid hemangioma MONDO:0006500 DOID:14308 DOID:255 hemangioma +MONDO:0001969 mixed gonadal dysgenesis MONDO:0001967 DOID:14449 DOID:14447 gonadal dysgenesis +MONDO:0001993 seminal vesicle adenocarcinoma MONDO:0005836 DOID:14545 DOID:3856 male reproductive organ cancer +MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0005096 DOID:14547 DOID:1749 squamous cell carcinoma +MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type MONDO:0020066 DOID:14759 DOID:13359 Ehlers-Danlos syndrome +MONDO:0002025 psychiatric disorder MONDO:0000001 DOID:150 DOID:4 disease +MONDO:0002031 cecal disorder MONDO:0005020 DOID:1518 DOID:5295 intestinal disorder +MONDO:0002032 colon carcinoma MONDO:0004993 DOID:1520 DOID:305 carcinoma +MONDO:0002033 cecum cancer MONDO:0002031 DOID:1521 DOID:1518 cecal disorder +MONDO:0002033 cecum cancer MONDO:0005575 DOID:1521 DOID:5672 colorectal cancer +MONDO:0002034 cecum lymphoma MONDO:0005062 DOID:1522 DOID:0060058 lymphoma +MONDO:0002035 colon lymphoma MONDO:0005062 DOID:1523 DOID:0060058 lymphoma +MONDO:0002086 clear cell acanthoma MONDO:0002531 DOID:172 DOID:3165 skin neoplasm +MONDO:0002092 small intestine leiomyoma MONDO:0004251 DOID:1738 DOID:7505 small intestine neoplasm +MONDO:0002095 vascular cancer MONDO:0005385 DOID:175 DOID:178 vascular disorder +MONDO:0002100 cardiovascular cancer MONDO:0004995 DOID:176 DOID:1287 cardiovascular disorder +MONDO:0002108 thyroid cancer MONDO:0003240 DOID:1781 DOID:50 thyroid gland disorder +MONDO:0002109 pituitary cancer MONDO:0003381 DOID:1785 DOID:53 pituitary gland disorder +MONDO:0002114 pancreas lymphoma MONDO:0005062 DOID:1792 DOID:0060058 lymphoma +MONDO:0002117 pancreas sarcoma MONDO:0005089 DOID:1796 DOID:1115 sarcoma +MONDO:0002129 bone cancer MONDO:0005381 DOID:184 DOID:0080001 bone disorder +MONDO:0002131 jaw cancer MONDO:0002129 DOID:1862 DOID:184 bone cancer +MONDO:0002133 chronic rheumatic pericarditis MONDO:0005904 DOID:1869 DOID:1787 pericarditis +MONDO:0002138 allergic contact dermatitis of eyelid MONDO:0005271 DOID:1895 DOID:1205 allergic disease +MONDO:0002140 vagina sarcoma MONDO:0005089 DOID:1901 DOID:1115 sarcoma +MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0003363 DOID:1906 DOID:5274 malignant dermis tumor +MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0005089 DOID:1907 DOID:1115 sarcoma +MONDO:0002143 vaginal yolk sac tumor MONDO:0001402 DOID:1910 DOID:119 vaginal cancer +MONDO:0002149 reproductive system cancer MONDO:0005039 DOID:193 DOID:15 reproductive system disorder +MONDO:0002150 hypothalamic disorder MONDO:0005560 DOID:1931 DOID:936 brain disorder +MONDO:0002158 fallopian tube cancer MONDO:0002156 DOID:1964 DOID:1962 fallopian tube disorder +MONDO:0002163 thymus lipoma MONDO:0000627 DOID:1975 DOID:0060089 benign endocrine neoplasm +MONDO:0002163 thymus lipoma MONDO:0000630 DOID:1975 DOID:0060092 immune system organ benign neoplasm +MONDO:0002163 thymus lipoma MONDO:0003393 DOID:1975 DOID:533 thymus gland disorder +MONDO:0002165 rectal neoplasm MONDO:0021118 DOID:1984 DOID:4610 intestinal neoplasm +MONDO:0002166 rectum lymphoma MONDO:0005062 DOID:1988 DOID:0060058 lymphoma +MONDO:0002167 rectum malignant melanoma MONDO:0005105 DOID:1992 DOID:1909 melanoma +MONDO:0002169 rectum adenocarcinoma MONDO:0004970 DOID:1996 DOID:299 adenocarcinoma +MONDO:0002169 rectum adenocarcinoma MONDO:0006519 DOID:1996 DOID:1993 rectal cancer +MONDO:0002177 hyperinsulinism MONDO:0002356 DOID:2018 DOID:26 pancreas disorder +MONDO:0002178 placenta cancer MONDO:0005917 DOID:2021 DOID:780 placenta disorder +MONDO:0002204 transient arthritis MONDO:0006816 DOID:2092 DOID:381 arthropathy +MONDO:0002206 sweat gland cancer MONDO:0006615 DOID:2095 DOID:1383 sweat gland disorder +MONDO:0002214 brain germinoma MONDO:0005040 DOID:2127 DOID:2994 germ cell tumor +MONDO:0002217 central nervous system sarcoma MONDO:0005089 DOID:2133 DOID:1115 sarcoma +MONDO:0002225 ovarian sarcoma MONDO:0005089 DOID:2146 DOID:1115 sarcoma +MONDO:0002226 tuberculous oophoritis MONDO:0005558 DOID:2148 DOID:1100 ovarian disorder +MONDO:0002236 ocular cancer MONDO:0005328 DOID:2174 DOID:5614 eye disorder +MONDO:0002254 syndromic disease MONDO:0000001 DOID:225 DOID:4 disease +MONDO:0002260 hidradenitis MONDO:0006615 DOID:2282 DOID:1383 sweat gland disorder +MONDO:0002269 gastroenteritis MONDO:0004335 DOID:2326 DOID:77 digestive system disorder +MONDO:0002271 colon adenocarcinoma MONDO:0004970 DOID:234 DOID:299 adenocarcinoma +MONDO:0002278 benign colon neoplasm MONDO:0003409 DOID:235 DOID:5353 colonic disorder +MONDO:0002278 benign colon neoplasm MONDO:0021118 DOID:235 DOID:4610 intestinal neoplasm +MONDO:0002282 West Nile fever MONDO:0005108 DOID:2366 DOID:934 viral infectious disease +MONDO:0002285 pupil disorder MONDO:0005328 DOID:238 DOID:5614 eye disorder +MONDO:0002286 renal artery disease MONDO:0000473 DOID:2388 DOID:0050828 arterial disorder +MONDO:0002291 cutaneous granular cell tumor MONDO:0002531 DOID:2410 DOID:3165 skin neoplasm +MONDO:0002293 cutaneous ganglioneuroma MONDO:0002531 DOID:2425 DOID:3165 skin neoplasm +MONDO:0002298 cutaneous glomangioma MONDO:0002531 DOID:2435 DOID:3165 skin neoplasm +MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0005096 DOID:2441 DOID:1749 squamous cell carcinoma +MONDO:0002311 retinal vascular disorder MONDO:0005385 DOID:2462 DOID:178 vascular disorder +MONDO:0002318 trachea leiomyoma MONDO:0000382 DOID:248 DOID:0050621 respiratory system benign neoplasm +MONDO:0002318 trachea leiomyoma MONDO:0002567 DOID:248 DOID:3225 tracheal disorder +MONDO:0002323 cherry hemangioma MONDO:0002531 DOID:2495 DOID:3165 skin neoplasm +MONDO:0002328 intracranial hemangioma MONDO:0006500 DOID:2517 DOID:255 hemangioma +MONDO:0002341 granulomatous angiitis MONDO:0018882 DOID:2555 DOID:865 vasculitis +MONDO:0002343 splenic hemangioma MONDO:0002332 DOID:256 DOID:2529 splenic disorder +MONDO:0002352 larynx cancer MONDO:0004382 DOID:2596 DOID:786 laryngeal disorder +MONDO:0002354 benign laryngeal neoplasm MONDO:0004382 DOID:2598 DOID:786 laryngeal disorder +MONDO:0002355 glottis carcinoma MONDO:0004993 DOID:2599 DOID:305 carcinoma +MONDO:0002360 chondroma MONDO:0005165 DOID:2602 DOID:0060084 benign neoplasm +MONDO:0002363 papilloma MONDO:0005165 DOID:2615 DOID:0060084 benign neoplasm +MONDO:0002367 kidney cancer MONDO:0005240 DOID:263 DOID:557 kidney disorder +MONDO:0002368 papillary serous cystadenocarcinoma MONDO:0002512 DOID:2632 DOID:3112 papillary adenocarcinoma +MONDO:0002381 sweat gland neoplasm MONDO:0002531 DOID:2664 DOID:3165 skin neoplasm +MONDO:0002387 liver angiosarcoma MONDO:0002691 DOID:268 DOID:3571 liver cancer +MONDO:0002399 tenosynovial giant cell tumor, localized type MONDO:0000654 DOID:2701 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0002404 liver hemangioma MONDO:0006500 DOID:271 DOID:255 hemangioma +MONDO:0002408 hereditary hyperbilirubinemia MONDO:0019052 DOID:2741 DOID:655 inborn errors of metabolism +MONDO:0002414 gastric hemangioma MONDO:0000385 DOID:275 DOID:0050624 benign digestive system neoplasm +MONDO:0002414 gastric hemangioma MONDO:0004298 DOID:275 DOID:76 stomach disorder +MONDO:0002414 gastric hemangioma MONDO:0006500 DOID:275 DOID:255 hemangioma +MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0005096 DOID:2763 DOID:1749 squamous cell carcinoma +MONDO:0002422 adamantinoma MONDO:0002129 DOID:2776 DOID:184 bone cancer +MONDO:0002426 lung sarcoma MONDO:0005089 DOID:2784 DOID:1115 sarcoma +MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0001563 DOID:2814 DOID:12657 vestibulocochlear nerve disorder +MONDO:0002433 malignant cranial nerve neoplasm MONDO:0001406 DOID:2815 DOID:1192 peripheral nervous system neoplasm +MONDO:0002433 malignant cranial nerve neoplasm MONDO:0003569 DOID:2815 DOID:5656 cranial nerve neuropathy +MONDO:0002437 dehydration polycythemia MONDO:0002438 DOID:2833 DOID:2834 acquired polycythemia +MONDO:0002440 erythropoietin polycythemia MONDO:0002438 DOID:2839 DOID:2834 acquired polycythemia +MONDO:0002441 Jervell and Lange-Nielsen syndrome MONDO:0002442 DOID:2842 DOID:2843 long QT syndrome +MONDO:0002447 endometrial carcinoma MONDO:0004993 DOID:2871 DOID:305 carcinoma +MONDO:0002448 laryngeal sarcoma MONDO:0005089 DOID:2877 DOID:1115 sarcoma +MONDO:0002450 prostatic adenoma MONDO:0000625 DOID:2883 DOID:0060087 benign male reproductive system neoplasm +MONDO:0002450 prostatic adenoma MONDO:0003105 DOID:2883 DOID:47 prostate disorder +MONDO:0002450 prostatic adenoma MONDO:0005165 DOID:2883 DOID:0060084 benign neoplasm +MONDO:0002451 benign prostate phyllodes tumor MONDO:0000625 DOID:2885 DOID:0060087 benign male reproductive system neoplasm +MONDO:0002452 prostate leiomyoma MONDO:0000625 DOID:2887 DOID:0060087 benign male reproductive system neoplasm +MONDO:0002452 prostate leiomyoma MONDO:0003105 DOID:2887 DOID:47 prostate disorder +MONDO:0002463 lacrimal gland carcinoma MONDO:0004993 DOID:293 DOID:305 carcinoma +MONDO:0002466 eye carcinoma MONDO:0004993 DOID:295 DOID:305 carcinoma +MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002464 DOID:296 DOID:294 lacrimal gland cancer +MONDO:0002479 Sertoli-Leydig cell tumor MONDO:0006055 DOID:2997 DOID:192 sex cord-stromal tumor +MONDO:0002509 non-specific granulomatous orchitis MONDO:0002329 DOID:3089 DOID:2519 testicular disorder +MONDO:0002513 kidney benign neoplasm MONDO:0005240 DOID:3116 DOID:557 kidney disorder +MONDO:0002536 skin papilloma MONDO:0002531 DOID:3178 DOID:3165 skin neoplasm +MONDO:0002549 schwannoma of twelfth cranial nerve MONDO:0001810 DOID:3197 DOID:13814 hypoglossal nerve disorder +MONDO:0002562 demyelinating disease MONDO:0002602 DOID:3213 DOID:331 central nervous system disorder +MONDO:0002571 primary central nervous system lymphoma MONDO:0005062 DOID:3234 DOID:0060058 lymphoma +MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma MONDO:0003059 DOID:3254 DOID:4606 bile duct cancer +MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma MONDO:0005212 DOID:3254 DOID:3247 rhabdomyosarcoma +MONDO:0002582 subacute leukemia MONDO:0005059 DOID:3264 DOID:1240 leukemia +MONDO:0002586 thymus cancer MONDO:0003393 DOID:3277 DOID:533 thymus gland disorder +MONDO:0002594 monkeypox MONDO:0005108 DOID:3292 DOID:934 viral infectious disease +MONDO:0002598 germinoma MONDO:0005040 DOID:3304 DOID:2994 germ cell tumor +MONDO:0002625 Ewing sarcoma of bone MONDO:0002129 DOID:3368 DOID:184 bone cancer +MONDO:0002627 chondroblastic osteosarcoma MONDO:0009807 DOID:3372 DOID:3347 osteosarcoma +MONDO:0002632 metachronous osteosarcoma of the bone MONDO:0009807 DOID:3379 DOID:3347 osteosarcoma +MONDO:0002634 liposarcoma of bone MONDO:0002129 DOID:3381 DOID:184 bone cancer +MONDO:0002635 periodontal disorder MONDO:0006858 DOID:3388 DOID:403 mouth disorder +MONDO:0002646 viral laryngitis MONDO:0005108 DOID:3436 DOID:934 viral infectious disease +MONDO:0002650 scrotal carcinoma MONDO:0003319 DOID:3445 DOID:518 scrotum neoplasm +MONDO:0002652 anus adenocarcinoma MONDO:0004970 DOID:3447 DOID:299 adenocarcinoma +MONDO:0002658 iris cancer MONDO:0002289 DOID:3478 DOID:240 iris disorder +MONDO:0002659 uveal cancer MONDO:0002661 DOID:3479 DOID:3480 uveal disorder +MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0005496 DOID:3494 DOID:4897 bile duct carcinoma +MONDO:0002670 ampulla of vater adenocarcinoma MONDO:0004970 DOID:3502 DOID:299 adenocarcinoma +MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0005082 DOID:3504 DOID:2526 prostate adenocarcinoma +MONDO:0002676 adult fibrosarcoma MONDO:0005164 DOID:3516 DOID:3355 fibrosarcoma +MONDO:0002685 childhood choroid plexus carcinoma MONDO:0002681 DOID:3545 DOID:3540 choroid plexus cancer +MONDO:0002691 liver cancer MONDO:0002514 DOID:3571 DOID:0080355 hepatobiliary neoplasm +MONDO:0002691 liver cancer MONDO:0005154 DOID:3571 DOID:409 liver disorder +MONDO:0002698 testicular gonadoblastoma MONDO:0002329 DOID:3579 DOID:2519 testicular disorder +MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0006087 DOID:3607 DOID:3608 appendix adenocarcinoma +MONDO:0002707 breast mucinous carcinoma MONDO:0004988 DOID:3610 DOID:3458 breast adenocarcinoma +MONDO:0002714 central nervous system cancer MONDO:0002602 DOID:3620 DOID:331 central nervous system disorder +MONDO:0002715 uterine cancer MONDO:0002654 DOID:363 DOID:345 uterine disorder +MONDO:0002718 central nervous system teratoma MONDO:0003000 DOID:3640 DOID:4439 central nervous system germ cell tumor +MONDO:0002724 mast cell neoplasm MONDO:0002334 DOID:3664 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0002732 lung benign neoplasm MONDO:0005275 DOID:3683 DOID:850 lung disorder +MONDO:0002735 anal canal adenocarcinoma MONDO:0000405 DOID:3692 DOID:0050688 anal canal cancer +MONDO:0002735 anal canal adenocarcinoma MONDO:0004970 DOID:3692 DOID:299 adenocarcinoma +MONDO:0002736 ampulla of vater mucinous adenocarcinoma MONDO:0004957 DOID:3693 DOID:3030 mucinous adenocarcinoma +MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma MONDO:0003193 DOID:3698 DOID:4896 bile duct adenocarcinoma +MONDO:0002764 urethra squamous cell carcinoma MONDO:0004192 DOID:3750 DOID:734 urethra cancer +MONDO:0002779 central nervous system chondroma MONDO:0002360 DOID:3813 DOID:2602 chondroma +MONDO:0002805 hidradenoma MONDO:0002381 DOID:3896 DOID:2664 sweat gland neoplasm +MONDO:0002806 bronchogenic carcinoma MONDO:0004993 DOID:3904 DOID:305 carcinoma +MONDO:0002809 pancreatic cystadenoma MONDO:0002356 DOID:3918 DOID:26 pancreas disorder +MONDO:0002814 adrenal carcinoma MONDO:0004993 DOID:3950 DOID:305 carcinoma +MONDO:0002817 adrenal gland cancer MONDO:0005495 DOID:3953 DOID:9553 adrenal gland disorder +MONDO:0002829 bartholin gland carcinoma MONDO:0001528 DOID:60003 DOID:1245 vulva cancer +MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma MONDO:0004993 DOID:4003 DOID:305 carcinoma +MONDO:0002836 urethra transitional cell carcinoma MONDO:0004192 DOID:4013 DOID:734 urethra cancer +MONDO:0002836 urethra transitional cell carcinoma MONDO:0006474 DOID:4013 DOID:2671 transitional cell carcinoma +MONDO:0002850 central nervous system rhabdomyosarcoma MONDO:0002714 DOID:4048 DOID:3620 central nervous system cancer +MONDO:0002852 mediastinum sarcoma MONDO:0005089 DOID:4050 DOID:1115 sarcoma +MONDO:0002852 mediastinum sarcoma MONDO:0005843 DOID:4050 DOID:5559 mediastinal cancer +MONDO:0002854 prostate sarcoma MONDO:0005089 DOID:4054 DOID:1115 sarcoma +MONDO:0002856 gallbladder rhabdomyosarcoma MONDO:0005411 DOID:4057 DOID:3121 gallbladder cancer +MONDO:0002857 gallbladder sarcoma MONDO:0005089 DOID:4058 DOID:1115 sarcoma +MONDO:0002861 testis sarcoma MONDO:0005089 DOID:4062 DOID:1115 sarcoma +MONDO:0002862 bile duct sarcoma MONDO:0005089 DOID:4064 DOID:1115 sarcoma +MONDO:0002864 anus rhabdomyosarcoma MONDO:0001879 DOID:4066 DOID:14110 anus cancer +MONDO:0002864 anus rhabdomyosarcoma MONDO:0005212 DOID:4066 DOID:3247 rhabdomyosarcoma +MONDO:0002865 anus sarcoma MONDO:0005089 DOID:4067 DOID:1115 sarcoma +MONDO:0002866 duodenal disorder MONDO:0005020 DOID:4072 DOID:5295 intestinal disorder +MONDO:0002875 parasitic ectoparasitic infectious disease MONDO:0005135 DOID:4110 DOID:1398 parasitic infectious disease +MONDO:0002877 cervical carcinosarcoma MONDO:0002974 DOID:4112 DOID:4362 cervical cancer +MONDO:0002889 orbital cancer MONDO:0002129 DOID:4143 DOID:184 bone cancer +MONDO:0002898 skin cancer MONDO:0005093 DOID:4159 DOID:37 skin disorder +MONDO:0002911 brain stem glioma MONDO:0100342 DOID:4202 DOID:3070 malignant glioma +MONDO:0002926 clear cell sarcoma MONDO:0005089 DOID:4233 DOID:1115 sarcoma +MONDO:0002935 penis basal cell carcinoma MONDO:0006360 DOID:4277 DOID:3449 penile carcinoma +MONDO:0002936 scrotum basal cell carcinoma MONDO:0002650 DOID:4278 DOID:3445 scrotal carcinoma +MONDO:0002941 anal margin carcinoma MONDO:0002898 DOID:4284 DOID:4159 skin cancer +MONDO:0002943 external ear basal cell carcinoma MONDO:0002944 DOID:4287 DOID:4288 external ear carcinoma +MONDO:0002944 external ear carcinoma MONDO:0004993 DOID:4288 DOID:305 carcinoma +MONDO:0002955 vulva basal cell carcinoma MONDO:0005215 DOID:4301 DOID:1294 vulvar carcinoma +MONDO:0002965 parovarian cyst MONDO:0002263 DOID:4333 DOID:229 female reproductive system disorder +MONDO:0002969 ciliary body cancer MONDO:0002970 DOID:4352 DOID:4353 ciliary body disorder +MONDO:0002974 cervical cancer MONDO:0002256 DOID:4362 DOID:2253 cervix disorder +MONDO:0002993 pancreatic somatostatinoma MONDO:0005815 DOID:4432 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0002994 pancreatic delta cell neuroendocrine tumor MONDO:0005815 DOID:4433 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0002996 cavernous sinus meningioma MONDO:0002785 DOID:4435 DOID:3842 skull base neoplasm +MONDO:0002996 cavernous sinus meningioma MONDO:0016642 DOID:4435 DOID:3565 meningioma +MONDO:0003000 central nervous system germ cell tumor MONDO:0005040 DOID:4439 DOID:2994 germ cell tumor +MONDO:0003001 seminoma MONDO:0005040 DOID:4440 DOID:2994 germ cell tumor +MONDO:0003002 dysgerminoma MONDO:0005040 DOID:4441 DOID:2994 germ cell tumor +MONDO:0003003 cervical alveolar soft part sarcoma MONDO:0002974 DOID:4442 DOID:4362 cervical cancer +MONDO:0003007 childhood kidney cell carcinoma MONDO:0005086 DOID:4454 DOID:4450 renal cell carcinoma +MONDO:0003008 hereditary renal cell carcinoma MONDO:0005086 DOID:4455 DOID:4450 renal cell carcinoma +MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0005086 DOID:4463 DOID:4450 renal cell carcinoma +MONDO:0003012 sarcomatoid renal cell carcinoma MONDO:0005086 DOID:4473 DOID:4450 renal cell carcinoma +MONDO:0003023 aorta angiosarcoma MONDO:0005561 DOID:4510 DOID:520 aortic disorder +MONDO:0003026 gallbladder angiosarcoma MONDO:0005411 DOID:4513 DOID:3121 gallbladder cancer +MONDO:0003028 thyroid sarcoma MONDO:0005089 DOID:4515 DOID:1115 sarcoma +MONDO:0003035 ovarian angiosarcoma MONDO:0005089 DOID:4527 DOID:1115 sarcoma +MONDO:0003035 ovarian angiosarcoma MONDO:0008170 DOID:4527 DOID:2394 ovarian cancer +MONDO:0003036 mucoepidermoid carcinoma MONDO:0004993 DOID:4531 DOID:305 carcinoma +MONDO:0003046 anus neoplasm MONDO:0021118 DOID:4551 DOID:4610 intestinal neoplasm +MONDO:0003047 thymic large cell neuroendocrine carcinoma MONDO:0006451 DOID:4553 DOID:3284 thymic carcinoma +MONDO:0003051 non specific chronic endometritis MONDO:0000918 DOID:4560 DOID:1002 endometritis +MONDO:0003052 granulomatous endometritis MONDO:0000918 DOID:4561 DOID:1002 endometritis +MONDO:0003054 benign meningioma MONDO:0000628 DOID:4587 DOID:0060090 central nervous system organ benign neoplasm +MONDO:0003059 bile duct cancer MONDO:0002887 DOID:4606 DOID:4138 bile duct disorder +MONDO:0003060 biliary tract cancer MONDO:0002514 DOID:4607 DOID:0080355 hepatobiliary neoplasm +MONDO:0003061 benign muscle neoplasm MONDO:0003939 DOID:461 DOID:0080000 muscle tissue disorder +MONDO:0003072 retinal cancer MONDO:0005283 DOID:4645 DOID:5679 retinal disorder +MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0002586 DOID:4678 DOID:3277 thymus cancer +MONDO:0003088 intramuscular hemangioma MONDO:0006500 DOID:468 DOID:255 hemangioma +MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma MONDO:0003059 DOID:4681 DOID:4606 bile duct cancer +MONDO:0003092 lacrimal gland mucoepidermoid carcinoma MONDO:0002464 DOID:4685 DOID:294 lacrimal gland cancer +MONDO:0003093 mucoepidermoid esophageal carcinoma MONDO:0019086 DOID:4686 DOID:1107 carcinoma of esophagus +MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0002352 DOID:4688 DOID:2596 larynx cancer +MONDO:0003109 foramen magnum meningioma MONDO:0016642 DOID:4708 DOID:3565 meningioma +MONDO:0003110 skin hemangioma MONDO:0002531 DOID:471 DOID:3165 skin neoplasm +MONDO:0003113 extragonadal germ cell cancer MONDO:0005040 DOID:4717 DOID:2994 germ cell tumor +MONDO:0003115 subglottic hemangioma MONDO:0000933 DOID:472 DOID:10069 subglottis neoplasm +MONDO:0003154 hemangioma of peripheral nerve MONDO:0003620 DOID:482 DOID:574 peripheral nervous system disorder +MONDO:0003154 hemangioma of peripheral nerve MONDO:0006500 DOID:482 DOID:255 hemangioma +MONDO:0003169 diencephalic astrocytomas MONDO:0100342 DOID:4855 DOID:3070 malignant glioma +MONDO:0003171 pineal gland astrocytoma MONDO:0100342 DOID:4858 DOID:3070 malignant glioma +MONDO:0003177 prostate adenoid cystic carcinoma MONDO:0005159 DOID:4868 DOID:10286 prostate carcinoma +MONDO:0003180 cutaneous adenocystic carcinoma MONDO:0002656 DOID:4871 DOID:3451 skin carcinoma +MONDO:0003181 lung adenoid cystic carcinoma MONDO:0005138 DOID:4872 DOID:3905 lung carcinoma +MONDO:0003185 adenoid cystic breast carcinoma MONDO:0004989 DOID:4877 DOID:3459 breast carcinoma +MONDO:0003186 esophageal adenoid cystic carcinoma MONDO:0019086 DOID:4878 DOID:1107 carcinoma of esophagus +MONDO:0003187 Bartholin gland adenoid cystic carcinoma MONDO:0002829 DOID:4879 DOID:3999 bartholin gland carcinoma +MONDO:0003190 middle ear carcinoma MONDO:0004993 DOID:4893 DOID:305 carcinoma +MONDO:0003196 appendix carcinoma MONDO:0004993 DOID:4902 DOID:305 carcinoma +MONDO:0003197 granular cell carcinoma MONDO:0004993 DOID:4903 DOID:305 carcinoma +MONDO:0003199 anal carcinoma MONDO:0004993 DOID:4908 DOID:305 carcinoma +MONDO:0003200 urethra adenocarcinoma MONDO:0004192 DOID:4910 DOID:734 urethra cancer +MONDO:0003202 pituitary gland basophilic carcinoma MONDO:0004970 DOID:4915 DOID:299 adenocarcinoma +MONDO:0003205 renal pelvis adenocarcinoma MONDO:0004970 DOID:4918 DOID:299 adenocarcinoma +MONDO:0003208 breast secretory carcinoma MONDO:0004988 DOID:4922 DOID:3458 breast adenocarcinoma +MONDO:0003212 nasal cavity carcinoma MONDO:0004993 DOID:4931 DOID:305 carcinoma +MONDO:0003214 apocrine adenocarcinoma MONDO:0004970 DOID:4933 DOID:299 adenocarcinoma +MONDO:0003220 gallbladder carcinoma MONDO:0004993 DOID:4948 DOID:305 carcinoma +MONDO:0003231 acute nonparalytic poliomyelitis MONDO:0020128 DOID:4986 DOID:231 motor neuron disorder +MONDO:0003234 optic nerve astrocytoma MONDO:0100342 DOID:4991 DOID:3070 malignant glioma +MONDO:0003237 adenomyoma of uterine corpus MONDO:0000632 DOID:4994 DOID:0060095 uterine benign neoplasm +MONDO:0003254 cardiac granular cell neoplasm MONDO:0000629 DOID:5044 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0003265 adjustment disorder MONDO:0002025 DOID:507 DOID:150 psychiatric disorder +MONDO:0003275 middle ear cancer MONDO:0003276 DOID:5099 DOID:5100 middle ear disorder +MONDO:0003278 inner ear cancer MONDO:0002467 DOID:5102 DOID:2952 inner ear disorder +MONDO:0003284 mediastinum leiomyoma MONDO:0000634 DOID:5123 DOID:0060097 thoracic benign neoplasm +MONDO:0003286 extrahepatic bile duct leiomyoma MONDO:0001572 DOID:5125 DOID:127 leiomyoma +MONDO:0003286 extrahepatic bile duct leiomyoma MONDO:0002887 DOID:5125 DOID:4138 bile duct disorder +MONDO:0003286 extrahepatic bile duct leiomyoma MONDO:0005304 DOID:5125 DOID:0050625 biliary tract neoplasm +MONDO:0003292 anus leiomyoma MONDO:0001572 DOID:5134 DOID:127 leiomyoma +MONDO:0003292 anus leiomyoma MONDO:0003046 DOID:5134 DOID:4551 anus neoplasm +MONDO:0003294 pericardium leiomyoma MONDO:0000474 DOID:5137 DOID:0050829 pericardium disorder +MONDO:0003294 pericardium leiomyoma MONDO:0000629 DOID:5137 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0003294 pericardium leiomyoma MONDO:0000634 DOID:5137 DOID:0060097 thoracic benign neoplasm +MONDO:0003299 colorectal leiomyoma MONDO:0021118 DOID:5143 DOID:4610 intestinal neoplasm +MONDO:0003300 appendix leiomyoma MONDO:0000385 DOID:5146 DOID:0050624 benign digestive system neoplasm +MONDO:0003300 appendix leiomyoma MONDO:0001572 DOID:5146 DOID:127 leiomyoma +MONDO:0003300 appendix leiomyoma MONDO:0056798 DOID:5146 DOID:60000 disorder of appendix +MONDO:0003308 pleural mesothelioma MONDO:0002037 DOID:5157 DOID:1532 pleural disorder +MONDO:0003315 endometrium carcinoma in situ MONDO:0004647 DOID:5172 DOID:8719 in situ carcinoma +MONDO:0003332 malignant struma ovarii MONDO:0002372 DOID:5208 DOID:2641 ovarian monodermal and highly specialized teratoma +MONDO:0003336 acute necrotizing encephalitis MONDO:0019956 DOID:5222 DOID:9588 encephalitis +MONDO:0003337 acute hemorrhagic encephalitis MONDO:0019956 DOID:5224 DOID:9588 encephalitis +MONDO:0003341 subungual glomus tumor MONDO:0018327 DOID:5236 DOID:2431 glomus tumor +MONDO:0003349 central nervous system leiomyosarcoma MONDO:0003244 DOID:5254 DOID:502 central nervous system mesenchymal non-meningothelial tumor +MONDO:0003350 granular cell leiomyosarcoma MONDO:0005058 DOID:5258 DOID:1967 leiomyosarcoma +MONDO:0003358 anus leiomyosarcoma MONDO:0005058 DOID:5267 DOID:1967 leiomyosarcoma +MONDO:0003360 small intestine leiomyosarcoma MONDO:0000956 DOID:5271 DOID:10154 small intestine cancer +MONDO:0003364 gallbladder leiomyosarcoma MONDO:0005411 DOID:5275 DOID:3121 gallbladder cancer +MONDO:0003377 extrahepatic bile duct leiomyosarcoma MONDO:0005058 DOID:5293 DOID:1967 leiomyosarcoma +MONDO:0003401 central nervous system endodermal sinus tumor MONDO:0003000 DOID:5343 DOID:4439 central nervous system germ cell tumor +MONDO:0003409 colonic disorder MONDO:0005020 DOID:5353 DOID:5295 intestinal disorder +MONDO:0003413 hair follicle neoplasm MONDO:0002531 DOID:5375 DOID:3165 skin neoplasm +MONDO:0003414 skin pilomatrix carcinoma MONDO:0002656 DOID:5376 DOID:3451 skin carcinoma +MONDO:0003420 bile duct cystadenoma MONDO:0002887 DOID:5384 DOID:4138 bile duct disorder +MONDO:0003420 bile duct cystadenoma MONDO:0005304 DOID:5384 DOID:0050625 biliary tract neoplasm +MONDO:0003423 middle ear adenoma MONDO:0003276 DOID:5387 DOID:5100 middle ear disorder +MONDO:0003423 middle ear adenoma MONDO:0005165 DOID:5387 DOID:0060084 benign neoplasm +MONDO:0003427 bronchus adenoma MONDO:0004972 DOID:5391 DOID:657 adenoma +MONDO:0003428 brain hemangioma MONDO:0000628 DOID:5393 DOID:0060090 central nervous system organ benign neoplasm +MONDO:0003428 brain hemangioma MONDO:0006500 DOID:5393 DOID:255 hemangioma +MONDO:0003439 urinary bladder villous adenoma MONDO:0004972 DOID:5427 DOID:657 adenoma +MONDO:0003441 dystonic disorder MONDO:0005395 DOID:543 DOID:480 movement disorder +MONDO:0003450 eccrine papillary adenoma MONDO:0004972 DOID:5446 DOID:657 adenoma +MONDO:0003453 conjunctival intraepithelial neoplasm MONDO:0006170 DOID:5465 DOID:4251 conjunctival disorder +MONDO:0003454 conjunctival cancer MONDO:0006170 DOID:5467 DOID:4251 conjunctival disorder +MONDO:0003455 bile duct papillary neoplasm MONDO:0002363 DOID:5468 DOID:2615 papilloma +MONDO:0003455 bile duct papillary neoplasm MONDO:0005304 DOID:5468 DOID:0050625 biliary tract neoplasm +MONDO:0003458 uterine corpus adenofibroma MONDO:0000632 DOID:5475 DOID:0060095 uterine benign neoplasm +MONDO:0003461 fallopian tube serous adenofibroma MONDO:0006071 DOID:5478 DOID:2683 adenofibroma +MONDO:0003466 spindle cell synovial sarcoma MONDO:0010434 DOID:5487 DOID:5485 synovial sarcoma +MONDO:0003469 epithelioid cell synovial sarcoma MONDO:0010434 DOID:5494 DOID:5485 synovial sarcoma +MONDO:0003473 spinal cord ependymoma MONDO:0002542 DOID:5503 DOID:3185 spinal cord glioma +MONDO:0003490 ampulla of vater squamous cell carcinoma MONDO:0005096 DOID:5527 DOID:1749 squamous cell carcinoma +MONDO:0003492 lacrimal gland squamous cell carcinoma MONDO:0005096 DOID:5529 DOID:1749 squamous cell carcinoma +MONDO:0003494 ovarian squamous cell carcinoma MONDO:0008170 DOID:5531 DOID:2394 ovarian cancer +MONDO:0003500 squamous cell bile duct carcinoma MONDO:0005096 DOID:5537 DOID:1749 squamous cell carcinoma +MONDO:0003501 external ear squamous cell carcinoma MONDO:0005096 DOID:5538 DOID:1749 squamous cell carcinoma +MONDO:0003504 anal canal neuroendocrine neoplasm MONDO:0003046 DOID:5545 DOID:4551 anus neoplasm +MONDO:0003505 femoral cancer MONDO:0002129 DOID:5546 DOID:184 bone cancer +MONDO:0003506 pulmonary artery choriocarcinoma MONDO:0002095 DOID:5547 DOID:175 vascular cancer +MONDO:0003523 gastrin-producing neuroendocrine tumor MONDO:0019496 DOID:5577 DOID:169 neuroendocrine neoplasm +MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0005815 DOID:5580 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0003532 breast papillary carcinoma MONDO:0004989 DOID:5592 DOID:3459 breast carcinoma +MONDO:0003544 spinal cord cancer MONDO:0002545 DOID:5612 DOID:319 spinal cord disorder +MONDO:0003548 adenosquamous breast carcinoma MONDO:0005096 DOID:5623 DOID:1749 squamous cell carcinoma +MONDO:0003548 adenosquamous breast carcinoma MONDO:0007254 DOID:5623 DOID:1612 breast cancer +MONDO:0003549 adenosquamous bile duct carcinoma MONDO:0003059 DOID:5624 DOID:4606 bile duct cancer +MONDO:0003549 adenosquamous bile duct carcinoma MONDO:0005096 DOID:5624 DOID:1749 squamous cell carcinoma +MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0005096 DOID:5625 DOID:1749 squamous cell carcinoma +MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0007576 DOID:5625 DOID:5041 esophageal cancer +MONDO:0003551 thymic adenosquamous carcinoma MONDO:0002586 DOID:5626 DOID:3277 thymus cancer +MONDO:0003551 thymic adenosquamous carcinoma MONDO:0005096 DOID:5626 DOID:1749 squamous cell carcinoma +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0000919 DOID:5628 DOID:10020 ampulla of vater cancer +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0005096 DOID:5628 DOID:1749 squamous cell carcinoma +MONDO:0003554 adenosquamous colon carcinoma MONDO:0005096 DOID:5629 DOID:1749 squamous cell carcinoma +MONDO:0003554 adenosquamous colon carcinoma MONDO:0021063 DOID:5629 DOID:219 malignant colon neoplasm +MONDO:0003555 Bartholin gland adenosquamous carcinoma MONDO:0002829 DOID:5630 DOID:3999 bartholin gland carcinoma +MONDO:0003556 endometrial adenosquamous carcinoma MONDO:0005096 DOID:5631 DOID:1749 squamous cell carcinoma +MONDO:0003556 endometrial adenosquamous carcinoma MONDO:0011962 DOID:5631 DOID:1380 endometrial cancer +MONDO:0003558 adenosquamous prostate carcinoma MONDO:0005096 DOID:5634 DOID:1749 squamous cell carcinoma +MONDO:0003558 adenosquamous prostate carcinoma MONDO:0008315 DOID:5634 DOID:10283 prostate cancer +MONDO:0003565 urethral villous adenoma MONDO:0004972 DOID:5643 DOID:657 adenoma +MONDO:0003572 nasopharyngeal type undifferentiated carcinoma MONDO:0004993 DOID:5660 DOID:305 carcinoma +MONDO:0003574 external ear cancer MONDO:0002776 DOID:5665 DOID:379 external ear disorder +MONDO:0003578 extragonadal nonseminomatous germ cell tumor MONDO:0005040 DOID:5677 DOID:2994 germ cell tumor +MONDO:0003581 ovarian embryonal carcinoma MONDO:0008170 DOID:5681 DOID:2394 ovarian cancer +MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0002254 DOID:5683 DOID:225 syndromic disease +MONDO:0003586 esophagus liposarcoma MONDO:0007576 DOID:5694 DOID:5041 esophageal cancer +MONDO:0003588 larynx liposarcoma MONDO:0002352 DOID:5696 DOID:2596 larynx cancer +MONDO:0003589 liposarcoma of the ovary MONDO:0005089 DOID:5697 DOID:1115 sarcoma +MONDO:0003589 liposarcoma of the ovary MONDO:0008170 DOID:5697 DOID:2394 ovarian cancer +MONDO:0003591 kidney liposarcoma MONDO:0002367 DOID:5699 DOID:263 kidney cancer +MONDO:0003599 vulvar liposarcoma MONDO:0001528 DOID:5711 DOID:1245 vulva cancer +MONDO:0003599 vulvar liposarcoma MONDO:0005089 DOID:5711 DOID:1115 sarcoma +MONDO:0003612 uterine ligament cancer MONDO:0002715 DOID:5727 DOID:363 uterine cancer +MONDO:0003615 nerve compression syndrome MONDO:0003620 DOID:573 DOID:574 peripheral nervous system disorder +MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor MONDO:0005815 DOID:5741 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0003624 acinic cell breast carcinoma MONDO:0004988 DOID:5743 DOID:3458 breast adenocarcinoma +MONDO:0003635 sebaceous breast carcinoma MONDO:0004989 DOID:5760 DOID:3459 breast carcinoma +MONDO:0003636 vulvar sebaceous carcinoma MONDO:0005215 DOID:5761 DOID:1294 vulvar carcinoma +MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0002334 DOID:5772 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0003644 cavernous hemangioma of colon MONDO:0003409 DOID:5775 DOID:5353 colonic disorder +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0019496 DOID:5777 DOID:169 neuroendocrine neoplasm +MONDO:0003655 cerebral lymphoma MONDO:0003641 DOID:5815 DOID:5772 central nervous system hematopoietic neoplasm +MONDO:0003655 cerebral lymphoma MONDO:0005062 DOID:5815 DOID:0060058 lymphoma +MONDO:0003669 testicular seminoma MONDO:0005040 DOID:5842 DOID:2994 germ cell tumor +MONDO:0003669 testicular seminoma MONDO:0005447 DOID:5842 DOID:2998 testicular cancer +MONDO:0003680 periosteal chondrosarcoma MONDO:0008977 DOID:5859 DOID:3371 chondrosarcoma +MONDO:0003680 periosteal chondrosarcoma MONDO:0008977 DOID:5866 DOID:3371 chondrosarcoma +MONDO:0003684 clear cell chondrosarcoma MONDO:0008977 DOID:5867 DOID:3371 chondrosarcoma +MONDO:0003687 endocardium cancer MONDO:0000470 DOID:5877 DOID:0050825 endocardium disorder +MONDO:0003698 penis verrucous carcinoma MONDO:0018352 DOID:5908 DOID:5518 squamous cell carcinoma of penis +MONDO:0003704 uterine corpus diffuse leiomyomatosis MONDO:0000632 DOID:5916 DOID:0060095 uterine benign neoplasm +MONDO:0003704 uterine corpus diffuse leiomyomatosis MONDO:0001572 DOID:5916 DOID:127 leiomyoma +MONDO:0003707 distal biliary tract carcinoma MONDO:0005496 DOID:5923 DOID:4897 bile duct carcinoma +MONDO:0003713 angiokeratoma circumscriptum MONDO:0002531 DOID:5949 DOID:3165 skin neoplasm +MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0005096 DOID:5957 DOID:1749 squamous cell carcinoma +MONDO:0003744 spindle cell intraocular melanoma MONDO:0006325 DOID:6037 DOID:1752 ocular melanoma +MONDO:0003745 choroid spindle cell melanoma MONDO:0005105 DOID:6041 DOID:1909 melanoma +MONDO:0003746 ciliary body spindle cell melanoma MONDO:0002969 DOID:6043 DOID:4352 ciliary body cancer +MONDO:0003746 ciliary body spindle cell melanoma MONDO:0005105 DOID:6043 DOID:1909 melanoma +MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0001757 DOID:6054 DOID:1361 frontal sinus neoplasm +MONDO:0003753 nasal vestibule squamous papilloma MONDO:0000382 DOID:6059 DOID:0050621 respiratory system benign neoplasm +MONDO:0003753 nasal vestibule squamous papilloma MONDO:0002363 DOID:6059 DOID:2615 papilloma +MONDO:0003757 paraplegia MONDO:0002602 DOID:607 DOID:331 central nervous system disorder +MONDO:0003775 lateral ventricle meningioma MONDO:0002682 DOID:6115 DOID:3541 cerebral ventricle cancer +MONDO:0003776 renal pelvis inverted papilloma MONDO:0002363 DOID:6118 DOID:2615 papilloma +MONDO:0003778 inborn error of immunity MONDO:0005046 DOID:612 DOID:2914 immune system disorder +MONDO:0003784 nasal cavity carcinoma in situ MONDO:0002232 DOID:6148 DOID:2163 nasal cavity disorder +MONDO:0003792 ovarian carcinosarcoma MONDO:0018364 DOID:6170 DOID:2151 malignant epithelial tumor of ovary +MONDO:0003800 conventional malignant hemangiopericytoma MONDO:0005094 DOID:6197 DOID:264 hemangiopericytoma +MONDO:0003801 corneal intraepithelial neoplasm MONDO:0000942 DOID:6198 DOID:10124 corneal disorder +MONDO:0003802 cornea cancer MONDO:0000942 DOID:6199 DOID:10124 corneal disorder +MONDO:0003809 malignant mediastinum hemangiopericytoma MONDO:0005094 DOID:6209 DOID:264 hemangiopericytoma +MONDO:0003812 ovarian endometrial cancer MONDO:0002229 DOID:6212 DOID:2152 ovarian epithelial tumor +MONDO:0003826 mediastinum seminoma MONDO:0005040 DOID:6249 DOID:2994 germ cell tumor +MONDO:0003826 mediastinum seminoma MONDO:0005843 DOID:6249 DOID:5559 mediastinal cancer +MONDO:0003827 transient hypogammaglobulinemia MONDO:0015977 DOID:625 DOID:2583 agammaglobulinemia +MONDO:0003835 gastric cardia adenocarcinoma MONDO:0001063 DOID:6271 DOID:10548 cardia cancer +MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0003604 DOID:6274 DOID:5716 functioning pituitary gland neoplasm +MONDO:0003839 ovarian mucinous adenocarcinofibroma MONDO:0003756 DOID:6278 DOID:6067 ovarian mucinous neoplasm +MONDO:0003841 heart lipoma MONDO:0000629 DOID:6285 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0003841 heart lipoma MONDO:0000634 DOID:6285 DOID:0060097 thoracic benign neoplasm +MONDO:0003841 heart lipoma MONDO:0005267 DOID:6285 DOID:114 heart disorder +MONDO:0003847 hereditary disease MONDO:0000001 DOID:630 DOID:4 disease +MONDO:0003853 Bartholin gland adenocarcinoma MONDO:0004970 DOID:6316 DOID:299 adenocarcinoma +MONDO:0003856 adult malignant hemangiopericytoma MONDO:0005094 DOID:6332 DOID:264 hemangiopericytoma +MONDO:0003858 anterior optic tract meningioma MONDO:0016642 DOID:6334 DOID:3565 meningioma +MONDO:0003859 bilateral meningioma of optic nerve MONDO:0016642 DOID:6335 DOID:3565 meningioma +MONDO:0003866 liver extraskeletal osteosarcoma MONDO:0002691 DOID:6370 DOID:3571 liver cancer +MONDO:0003874 ovarian serous surface papillary adenocarcinoma MONDO:0005140 DOID:6408 DOID:4001 ovarian carcinoma +MONDO:0003876 eyelid carcinoma MONDO:0003382 DOID:6425 DOID:530 eyelid disorder +MONDO:0003884 lipoma of the rectum MONDO:0002165 DOID:6459 DOID:1984 rectal neoplasm +MONDO:0003884 lipoma of the rectum MONDO:0005106 DOID:6459 DOID:3315 lipoma +MONDO:0003885 colorectal lipoma MONDO:0021118 DOID:6460 DOID:4610 intestinal neoplasm +MONDO:0003901 cerebellar hemangioblastoma MONDO:0002913 DOID:6500 DOID:4205 cerebellar neoplasm +MONDO:0003911 ciliary body mixed cell melanoma MONDO:0002969 DOID:6523 DOID:4352 ciliary body cancer +MONDO:0003922 ovarian clear cell malignant adenofibroma MONDO:0008170 DOID:6554 DOID:2394 ovarian cancer +MONDO:0003923 ethmoid sinus Schneiderian papilloma MONDO:0001764 DOID:6559 DOID:1364 ethmoidal sinus neoplasm +MONDO:0003924 adrenal cortex adenoma MONDO:0000627 DOID:656 DOID:0060089 benign endocrine neoplasm +MONDO:0003924 adrenal cortex adenoma MONDO:0005495 DOID:656 DOID:9553 adrenal gland disorder +MONDO:0003925 ethmoid sinus inverted papilloma MONDO:0001764 DOID:6562 DOID:1364 ethmoidal sinus neoplasm +MONDO:0003925 ethmoid sinus inverted papilloma MONDO:0002363 DOID:6562 DOID:2615 papilloma +MONDO:0003926 neurilemmoma of the pleura MONDO:0002037 DOID:6564 DOID:1532 pleural disorder +MONDO:0003934 breast apocrine carcinoma MONDO:0004988 DOID:6581 DOID:3458 breast adenocarcinoma +MONDO:0003936 invasive tubular breast carcinoma MONDO:0004988 DOID:6587 DOID:3458 breast adenocarcinoma +MONDO:0003951 scrotal hemangioma MONDO:0002531 DOID:663 DOID:3165 skin neoplasm +MONDO:0003951 scrotal hemangioma MONDO:0006500 DOID:663 DOID:255 hemangioma +MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0002714 DOID:6634 DOID:3620 central nervous system cancer +MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0005207 DOID:6634 DOID:3594 choriocarcinoma +MONDO:0003953 pediatric CNS choriocarcinoma MONDO:0005207 DOID:6639 DOID:3594 choriocarcinoma +MONDO:0003954 angiokeratoma of Fordyce MONDO:0002531 DOID:664 DOID:3165 skin neoplasm +MONDO:0003959 breast large cell neuroendocrine carcinoma MONDO:0004989 DOID:6657 DOID:3459 breast carcinoma +MONDO:0003970 gastric fundus carcinoma MONDO:0004993 DOID:6700 DOID:305 carcinoma +MONDO:0003975 Littre gland carcinoma MONDO:0004993 DOID:6721 DOID:305 carcinoma +MONDO:0003978 colon small cell neuroendocrine carcinoma MONDO:0004993 DOID:6727 DOID:305 carcinoma +MONDO:0003978 colon small cell neuroendocrine carcinoma MONDO:0021063 DOID:6727 DOID:219 malignant colon neoplasm +MONDO:0003985 chest wall lymphoma MONDO:0003274 DOID:6758 DOID:5093 thoracic cancer +MONDO:0003988 sternum lymphoma MONDO:0005062 DOID:6762 DOID:0060058 lymphoma +MONDO:0003989 polyembryoma of the ovary MONDO:0003408 DOID:6774 DOID:5351 ovarian primitive germ cell tumor +MONDO:0003990 malignant breast myoepithelioma MONDO:0004989 DOID:6776 DOID:3459 breast carcinoma +MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0001402 DOID:6788 DOID:119 vaginal cancer +MONDO:0003999 juvenile pilocytic astrocytoma MONDO:0016691 DOID:6811 DOID:4851 pilocytic astrocytoma +MONDO:0004005 rete ovarii adenoma MONDO:0005165 DOID:6837 DOID:0060084 benign neoplasm +MONDO:0004006 rete ovarii cystadenofibroma MONDO:0006071 DOID:6838 DOID:2683 adenofibroma +MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0005519 DOID:6844 DOID:4919 renal pelvis carcinoma +MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0006474 DOID:6844 DOID:2671 transitional cell carcinoma +MONDO:0004030 ureter transitional cell carcinoma MONDO:0006474 DOID:6888 DOID:2671 transitional cell carcinoma +MONDO:0004040 urinary bladder inverted papilloma MONDO:0000384 DOID:6932 DOID:0050623 bladder benign neoplasm +MONDO:0004040 urinary bladder inverted papilloma MONDO:0002363 DOID:6932 DOID:2615 papilloma +MONDO:0004042 urethra inverted papilloma MONDO:0002363 DOID:6934 DOID:2615 papilloma +MONDO:0004043 ureter inverted papilloma MONDO:0002363 DOID:6935 DOID:2615 papilloma +MONDO:0004053 bartholin gland squamous cell carcinoma MONDO:0005096 DOID:6961 DOID:1749 squamous cell carcinoma +MONDO:0004062 intermediate cell type uveal melanoma MONDO:0006325 DOID:6992 DOID:1752 ocular melanoma +MONDO:0004066 intermediate cell type ciliary body melanoma MONDO:0004062 DOID:6997 DOID:6992 intermediate cell type uveal melanoma +MONDO:0004067 gallbladder mucinous adenocarcinoma MONDO:0003220 DOID:6998 DOID:4948 gallbladder carcinoma +MONDO:0004069 inborn mitochondrial metabolism disorder MONDO:0019052 DOID:700 DOID:655 inborn errors of metabolism +MONDO:0004076 tendon sheath lipoma MONDO:0002528 DOID:7016 DOID:315 synovium neoplasm +MONDO:0004080 glottis squamous cell carcinoma MONDO:0005096 DOID:7031 DOID:1749 squamous cell carcinoma +MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma MONDO:0003193 DOID:7032 DOID:4896 bile duct adenocarcinoma +MONDO:0004085 choroid epithelioid cell melanoma MONDO:0002973 DOID:7041 DOID:4360 epithelioid cell melanoma +MONDO:0004086 ciliary body epithelioid cell melanoma MONDO:0002969 DOID:7042 DOID:4352 ciliary body cancer +MONDO:0004089 basaloid carcinoma of the penis MONDO:0018352 DOID:7047 DOID:5518 squamous cell carcinoma of penis +MONDO:0004091 skin basaloid carcinoma MONDO:0002898 DOID:7049 DOID:4159 skin cancer +MONDO:0004091 skin basaloid carcinoma MONDO:0005096 DOID:7049 DOID:1749 squamous cell carcinoma +MONDO:0004092 thymic basaloid carcinoma MONDO:0002586 DOID:7050 DOID:3277 thymus cancer +MONDO:0004092 thymic basaloid carcinoma MONDO:0004993 DOID:7050 DOID:305 carcinoma +MONDO:0004093 esophageal basaloid carcinoma MONDO:0005096 DOID:7051 DOID:1749 squamous cell carcinoma +MONDO:0004093 esophageal basaloid carcinoma MONDO:0007576 DOID:7051 DOID:5041 esophageal cancer +MONDO:0004096 spinal cord dermoid cyst MONDO:0002545 DOID:7071 DOID:319 spinal cord disorder +MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0001406 DOID:7077 DOID:1192 peripheral nervous system neoplasm +MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0005843 DOID:7077 DOID:5559 mediastinal cancer +MONDO:0004111 refractory hematologic cancer MONDO:0002334 DOID:712 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0004122 thymus small cell carcinoma MONDO:0006451 DOID:7142 DOID:3284 thymic carcinoma +MONDO:0004125 rectum leiomyoma MONDO:0001572 DOID:7160 DOID:127 leiomyoma +MONDO:0004125 rectum leiomyoma MONDO:0002165 DOID:7160 DOID:1984 rectal neoplasm +MONDO:0004132 anal canal squamous cell carcinoma MONDO:0000405 DOID:7177 DOID:0050688 anal canal cancer +MONDO:0004132 anal canal squamous cell carcinoma MONDO:0005096 DOID:7177 DOID:1749 squamous cell carcinoma +MONDO:0004135 subacute lymphocytic thyroiditis MONDO:0004126 DOID:7187 DOID:7166 thyroiditis +MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma MONDO:0004993 DOID:7221 DOID:305 carcinoma +MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma MONDO:0005411 DOID:7221 DOID:3121 gallbladder cancer +MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0000632 DOID:7242 DOID:0060095 uterine benign neoplasm +MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0001572 DOID:7242 DOID:127 leiomyoma +MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0005082 DOID:7246 DOID:2526 prostate adenocarcinoma +MONDO:0004173 adenocarcinoma of skene gland origin MONDO:0004993 DOID:7284 DOID:305 carcinoma +MONDO:0004177 benign urethral neoplasm MONDO:0004184 DOID:730 DOID:732 urethral disorder +MONDO:0004180 benign urinary system neoplasm MONDO:0002118 DOID:731 DOID:18 urinary system disorder +MONDO:0004188 iris spindle cell melanoma MONDO:0005105 DOID:7328 DOID:1909 melanoma +MONDO:0004192 urethra cancer MONDO:0004184 DOID:734 DOID:732 urethral disorder +MONDO:0004196 rectal sarcomatoid carcinoma MONDO:0006519 DOID:7356 DOID:1993 rectal cancer +MONDO:0004202 adrenal medulla carcinoma MONDO:0004993 DOID:7379 DOID:305 carcinoma +MONDO:0004206 pulmonary vein leiomyosarcoma MONDO:0002095 DOID:7388 DOID:175 vascular cancer +MONDO:0004207 pulmonary artery leiomyosarcoma MONDO:0002095 DOID:7389 DOID:175 vascular cancer +MONDO:0004208 superior vena cava leiomyosarcoma MONDO:0002095 DOID:7390 DOID:175 vascular cancer +MONDO:0004208 superior vena cava leiomyosarcoma MONDO:0004634 DOID:7390 DOID:866 vein disorder +MONDO:0004215 cutaneous anthrax MONDO:0005093 DOID:7426 DOID:37 skin disorder +MONDO:0004223 polyp of middle ear MONDO:0003276 DOID:7439 DOID:5100 middle ear disorder +MONDO:0004227 epididymal adenomatoid tumor MONDO:0000625 DOID:745 DOID:0060087 benign male reproductive system neoplasm +MONDO:0004276 ceruminoma MONDO:0003686 DOID:7549 DOID:5876 apocrine sweat gland neoplasm +MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0005215 DOID:7565 DOID:1294 vulvar carcinoma +MONDO:0004283 vulvar clear cell hidradenocarcinoma MONDO:0005215 DOID:7567 DOID:1294 vulvar carcinoma +MONDO:0004287 pancreatic foamy gland adenocarcinoma MONDO:0006047 DOID:7577 DOID:4074 pancreatic adenocarcinoma +MONDO:0004288 scirrhous breast carcinoma MONDO:0004989 DOID:7578 DOID:3459 breast carcinoma +MONDO:0004291 subglottis squamous cell carcinoma MONDO:0005096 DOID:7585 DOID:1749 squamous cell carcinoma +MONDO:0004293 supraglottis squamous cell carcinoma MONDO:0005096 DOID:7587 DOID:1749 squamous cell carcinoma +MONDO:0004308 meningeal sarcoma MONDO:0005089 DOID:7614 DOID:1115 sarcoma +MONDO:0004311 carcinoma of Cowper glands MONDO:0004993 DOID:7632 DOID:305 carcinoma +MONDO:0004312 suprasellar meningioma MONDO:0016642 DOID:7634 DOID:3565 meningioma +MONDO:0004326 sphenoid sinus inverted papilloma MONDO:0002363 DOID:7678 DOID:2615 papilloma +MONDO:0004326 sphenoid sinus inverted papilloma MONDO:0004047 DOID:7678 DOID:6947 sphenoidal sinus neoplasm +MONDO:0004327 sphenoid sinus Schneiderian papilloma MONDO:0004047 DOID:7679 DOID:6947 sphenoidal sinus neoplasm +MONDO:0004330 leptomeningeal sarcoma MONDO:0005089 DOID:7689 DOID:1115 sarcoma +MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor MONDO:0005815 DOID:7697 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO:0005815 DOID:7698 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0004341 colloid carcinoma of the pancreas MONDO:0005192 DOID:7717 DOID:4905 exocrine pancreatic carcinoma +MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0005596 DOID:7729 DOID:3111 cystadenocarcinoma +MONDO:0004344 childhood malignant hemangiopericytoma MONDO:0005094 DOID:7731 DOID:264 hemangiopericytoma +MONDO:0004349 retina lymphoma MONDO:0005062 DOID:774 DOID:0060058 lymphoma +MONDO:0004364 choroid necrotic melanoma MONDO:0006700 DOID:7807 DOID:12759 choroid cancer +MONDO:0004379 female breast carcinoma MONDO:0007254 DOID:0050671 DOID:1612 breast cancer +MONDO:0004380 dendritic cell sarcoma MONDO:0006247 DOID:7849 DOID:5621 histiocytic and dendritic cell neoplasm +MONDO:0004384 maxillary sinus inverted papilloma MONDO:0002363 DOID:7868 DOID:2615 papilloma +MONDO:0004384 maxillary sinus inverted papilloma MONDO:0006850 DOID:7868 DOID:1358 maxillary sinus neoplasm +MONDO:0004385 adult xanthogranuloma MONDO:0015531 DOID:7875 DOID:4330 non-Langerhans cell histiocytosis +MONDO:0004394 maxillary sinus squamous cell carcinoma MONDO:0005096 DOID:7910 DOID:1749 squamous cell carcinoma +MONDO:0004412 malignant spiradenoma MONDO:0005506 DOID:7960 DOID:4921 eccrine sweat gland cancer +MONDO:0004420 breast malignant eccrine spiradenoma MONDO:0007254 DOID:7983 DOID:1612 breast cancer +MONDO:0004423 central nervous system extraskeletal osteosarcoma MONDO:0003244 DOID:7994 DOID:502 central nervous system mesenchymal non-meningothelial tumor +MONDO:0004428 alveoli adenoma MONDO:0004972 DOID:8003 DOID:657 adenoma +MONDO:0004432 mature pericardial teratoma MONDO:0000474 DOID:8012 DOID:0050829 pericardium disorder +MONDO:0004447 pituitary stalk meningioma MONDO:0002720 DOID:8058 DOID:3643 sella turcica neoplasm +MONDO:0004447 pituitary stalk meningioma MONDO:0016642 DOID:8058 DOID:3565 meningioma +MONDO:0004448 frontal sinus inverted papilloma MONDO:0001757 DOID:8060 DOID:1361 frontal sinus neoplasm +MONDO:0004448 frontal sinus inverted papilloma MONDO:0002363 DOID:8060 DOID:2615 papilloma +MONDO:0004457 maxillary sinus Schneiderian papilloma MONDO:0006850 DOID:8093 DOID:1358 maxillary sinus neoplasm +MONDO:0004471 bacterial arthritis MONDO:0005578 DOID:813 DOID:848 arthritic joint disease +MONDO:0004473 epiglottis cancer MONDO:0001724 DOID:8133 DOID:13476 supraglottis cancer +MONDO:0004474 gallbladder lymphoma MONDO:0005062 DOID:8135 DOID:0060058 lymphoma +MONDO:0004477 adrenal gland ganglioneuroblastoma MONDO:0002817 DOID:8140 DOID:3953 adrenal gland cancer +MONDO:0004484 gallbladder melanoma MONDO:0005105 DOID:8167 DOID:1909 melanoma +MONDO:0004491 uterine corpus choriocarcinoma MONDO:0005207 DOID:8188 DOID:3594 choriocarcinoma +MONDO:0004491 uterine corpus choriocarcinoma MONDO:0006003 DOID:8188 DOID:9460 uterine corpus cancer +MONDO:0004512 meningeal melanomatosis MONDO:0003222 DOID:8243 DOID:4955 central nervous system melanocytic neoplasm +MONDO:0004519 synovial angioma MONDO:0000654 DOID:8274 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0004533 perineural angioma MONDO:0006500 DOID:8331 DOID:255 hemangioma +MONDO:0004535 childhood choriocarcinoma of the ovary MONDO:0003507 DOID:8336 DOID:5550 choriocarcinoma of ovary +MONDO:0004539 aortic malignant tumor MONDO:0002095 DOID:8352 DOID:175 vascular cancer +MONDO:0004544 chordoid meningioma MONDO:0016642 DOID:8368 DOID:3565 meningioma +MONDO:0004551 Meckel diverticulitis MONDO:0004235 DOID:8408 DOID:7475 diverticulitis +MONDO:0004568 paralytic ileus MONDO:0004565 DOID:8442 DOID:8437 intestinal obstruction +MONDO:0004574 pyridoxine deficiency anemia MONDO:0006873 DOID:8455 DOID:5113 nutritional deficiency disease +MONDO:0004584 maple bark strippers' lung MONDO:0005275 DOID:8484 DOID:850 lung disorder +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0004952 DOID:8543 DOID:8567 Hodgkins lymphoma +MONDO:0004609 herpes simplex infectious disease MONDO:0005108 DOID:8566 DOID:934 viral infectious disease +MONDO:0004613 acute intestinal ischemia MONDO:0005020 DOID:8590 DOID:5295 intestinal disorder +MONDO:0004619 measles MONDO:0005108 DOID:8622 DOID:934 viral infectious disease +MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:0004952 DOID:8628 DOID:8567 Hodgkins lymphoma +MONDO:0004627 duodenitis MONDO:0005020 DOID:8643 DOID:5295 intestinal disorder +MONDO:0004628 gastroduodenitis MONDO:0004247 DOID:8644 DOID:750 peptic ulcer disease +MONDO:0004631 tongue cancer MONDO:0001165 DOID:8649 DOID:10944 tongue disorder +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0004952 DOID:8654 DOID:8567 Hodgkins lymphoma +MONDO:0004636 lip carcinoma in situ MONDO:0004748 DOID:8661 DOID:9297 lip disorder +MONDO:0004639 perinatal necrotizing enterocolitis MONDO:0004335 DOID:8677 DOID:77 digestive system disorder +MONDO:0004641 skin carcinoma in situ MONDO:0005093 DOID:8687 DOID:37 skin disorder +MONDO:0004642 tonsillar pillar cancer MONDO:0004608 DOID:8688 DOID:8557 oropharynx cancer +MONDO:0004644 subacute monocytic leukemia MONDO:0004600 DOID:8696 DOID:8527 monocytic leukemia +MONDO:0004651 smallpox MONDO:0005108 DOID:8736 DOID:934 viral infectious disease +MONDO:0004658 breast carcinoma in situ MONDO:0002657 DOID:8791 DOID:3463 breast disorder +MONDO:0004659 eye carcinoma in situ MONDO:0005328 DOID:8792 DOID:5614 eye disorder +MONDO:0004661 trachea carcinoma in situ MONDO:0002567 DOID:8802 DOID:3225 tracheal disorder +MONDO:0004661 trachea carcinoma in situ MONDO:0004647 DOID:8802 DOID:8719 in situ carcinoma +MONDO:0004663 colon carcinoma in situ MONDO:0003409 DOID:8826 DOID:5353 colonic disorder +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma MONDO:0004952 DOID:8838 DOID:8567 Hodgkins lymphoma +MONDO:0004667 sublingual gland cancer MONDO:0004669 DOID:8849 DOID:8850 salivary gland cancer +MONDO:0004669 salivary gland cancer MONDO:0001142 DOID:8850 DOID:10854 salivary gland disorder +MONDO:0004671 penis carcinoma in situ MONDO:0002036 DOID:8872 DOID:1529 penile disorder +MONDO:0004671 penis carcinoma in situ MONDO:0004647 DOID:8872 DOID:8719 in situ carcinoma +MONDO:0004674 chorioretinitis MONDO:0005328 DOID:8886 DOID:5614 eye disorder +MONDO:0004678 dermatophytosis MONDO:0000254 DOID:8913 DOID:0050134 cutaneous mycosis +MONDO:0004684 plantar fibromatosis MONDO:0003900 DOID:8936 DOID:65 connective tissue disorder +MONDO:0004687 severe nonproliferative diabetic retinopathy MONDO:0005266 DOID:8946 DOID:8947 diabetic retinopathy +MONDO:0004690 tonsillar fossa cancer MONDO:0004608 DOID:8969 DOID:8557 oropharynx cancer +MONDO:0004695 liver lymphoma MONDO:0005062 DOID:901 DOID:0060058 lymphoma +MONDO:0004696 larynx carcinoma in situ MONDO:0004382 DOID:9011 DOID:786 laryngeal disorder +MONDO:0004698 intestine carcinoma in situ MONDO:0005020 DOID:9024 DOID:5295 intestinal disorder +MONDO:0004700 parotid gland cancer MONDO:0004669 DOID:9036 DOID:8850 salivary gland cancer +MONDO:0004700 parotid gland cancer MONDO:0005899 DOID:9036 DOID:10302 parotid disorder +MONDO:0004703 bladder carcinoma in situ MONDO:0006026 DOID:9053 DOID:365 urinary bladder disorder +MONDO:0004707 anal canal carcinoma in situ MONDO:0004647 DOID:9087 DOID:8719 in situ carcinoma +MONDO:0004708 esophagus carcinoma in situ MONDO:0003749 DOID:9095 DOID:6050 esophageal disorder +MONDO:0004710 uterus carcinoma in situ MONDO:0002654 DOID:9108 DOID:345 uterine disorder +MONDO:0004712 herpes simplex dermatitis MONDO:0005093 DOID:9123 DOID:37 skin disorder +MONDO:0004715 liver carcinoma in situ MONDO:0005154 DOID:9132 DOID:409 liver disorder +MONDO:0004716 stomach carcinoma in situ MONDO:0004298 DOID:9138 DOID:76 stomach disorder +MONDO:0004724 submandibular gland cancer MONDO:0001597 DOID:9173 DOID:12897 submandibular gland disorder +MONDO:0004724 submandibular gland cancer MONDO:0004669 DOID:9173 DOID:8850 salivary gland cancer +MONDO:0004725 rectum carcinoma in situ MONDO:0004647 DOID:9174 DOID:8719 in situ carcinoma +MONDO:0004726 liver inflammatory myofibroblastic tumor MONDO:0005154 DOID:918 DOID:409 liver disorder +MONDO:0004732 kidney carcinoma in situ MONDO:0005240 DOID:9234 DOID:557 kidney disorder +MONDO:0004741 tyrosinemia MONDO:0004736 DOID:9275 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0004742 primary cerebellar degeneration MONDO:0005559 DOID:9277 DOID:1289 neurodegenerative disease +MONDO:0004743 hyperhomocysteinemia MONDO:0004736 DOID:9279 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0004745 priapism MONDO:0002036 DOID:9286 DOID:1529 penile disorder +MONDO:0004767 vesiculitis MONDO:0003150 DOID:9365 DOID:48 male reproductive system disorder +MONDO:0004768 keratoconjunctivitis MONDO:0005328 DOID:9368 DOID:5614 eye disorder +MONDO:0004774 gonococcal iridocyclitis MONDO:0004773 DOID:9384 DOID:9383 iridocyclitis +MONDO:0004788 cervix squamous papilloma MONDO:0002363 DOID:9445 DOID:2615 papilloma +MONDO:0004789 cholangitis MONDO:0002887 DOID:9446 DOID:4138 bile duct disorder +MONDO:0004796 infectious meningitis MONDO:0002602 DOID:9471 DOID:331 central nervous system disorder +MONDO:0004804 dacryoadenitis MONDO:0001854 DOID:950 DOID:1400 lacrimal apparatus disorder +MONDO:0004819 indolent plasma cell myeloma MONDO:0009693 DOID:9550 DOID:9538 plasma cell myeloma +MONDO:0004827 esophagus squamous cell papilloma MONDO:0000385 DOID:959 DOID:0050624 benign digestive system neoplasm +MONDO:0004827 esophagus squamous cell papilloma MONDO:0003749 DOID:959 DOID:6050 esophageal disorder +MONDO:0004828 lower urinary tract calculus MONDO:0002118 DOID:9590 DOID:18 urinary system disorder +MONDO:0004829 Krukenberg carcinoma MONDO:0002229 DOID:9597 DOID:2152 ovarian epithelial tumor +MONDO:0004832 esophagus leiomyoma MONDO:0000385 DOID:960 DOID:0050624 benign digestive system neoplasm +MONDO:0004832 esophagus leiomyoma MONDO:0003749 DOID:960 DOID:6050 esophageal disorder +MONDO:0004844 oral mucosa leukoplakia MONDO:0006858 DOID:9655 DOID:403 mouth disorder +MONDO:0004852 gonococcal keratitis MONDO:0003085 DOID:9697 DOID:4677 keratitis +MONDO:0004854 ophthalmia neonatorum MONDO:0006668 DOID:9699 DOID:9700 bacterial conjunctivitis +MONDO:0004860 vitreous disorder MONDO:0005328 DOID:9720 DOID:5614 eye disorder +MONDO:0004905 intestinal disaccharidase deficiency MONDO:0005020 DOID:9868 DOID:5295 intestinal disorder +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0005062 DOID:1040 DOID:0060058 lymphoma +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0005402 DOID:1040 DOID:1037 lymphoid leukemia +MONDO:0004950 gastric carcinoma MONDO:0004993 DOID:5517 DOID:305 carcinoma +MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0005096 DOID:0050866 DOID:1749 squamous cell carcinoma +MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0005515 DOID:0050866 DOID:8618 oral cavity cancer +MONDO:0004965 acinar cell carcinoma MONDO:0004993 DOID:3025 DOID:305 carcinoma +MONDO:0004971 adenoid cystic carcinoma MONDO:0004993 DOID:0080202 DOID:305 carcinoma +MONDO:0004973 adenosquamous lung carcinoma MONDO:0005096 DOID:4829 DOID:1749 squamous cell carcinoma +MONDO:0004973 adenosquamous lung carcinoma MONDO:0008903 DOID:4829 DOID:1324 lung cancer +MONDO:0004990 breast tumor luminal A or B MONDO:0004989 DOID:0060548 DOID:3459 breast carcinoma +MONDO:0004997 chondroblastoma MONDO:0005165 DOID:2649 DOID:0060084 benign neoplasm +MONDO:0005005 clear cell renal carcinoma MONDO:0005086 DOID:4467 DOID:4450 renal cell carcinoma +MONDO:0005008 colorectal adenocarcinoma MONDO:0005575 DOID:0050913 DOID:5672 colorectal cancer +MONDO:0005009 congestive heart failure MONDO:0005267 DOID:6000 DOID:114 heart disorder +MONDO:0005013 dedifferentiated chondrosarcoma MONDO:0008977 DOID:0081247 DOID:3371 chondrosarcoma +MONDO:0005032 follicular thyroid adenoma MONDO:0000627 DOID:2891 DOID:0060089 benign endocrine neoplasm +MONDO:0005032 follicular thyroid adenoma MONDO:0003240 DOID:2891 DOID:50 thyroid gland disorder +MONDO:0005059 leukemia MONDO:0002334 DOID:1240 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0005062 lymphoma MONDO:0002334 DOID:0060058 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0005063 medullary breast carcinoma MONDO:0004988 DOID:5605 DOID:3458 breast adenocarcinoma +MONDO:0005066 metabolic disease MONDO:0000001 DOID:0014667 DOID:4 disease +MONDO:0005070 neoplasm MONDO:0000001 DOID:14566 DOID:4 disease +MONDO:0005076 periodontitis MONDO:0006999 DOID:9893 DOID:1091 tooth disorder +MONDO:0005081 preeclampsia MONDO:0005044 DOID:10591 DOID:10763 hypertensive disorder +MONDO:0005085 pterygium MONDO:0000942 DOID:0002116 DOID:10124 corneal disorder +MONDO:0005106 lipoma MONDO:0000654 DOID:3315 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0005106 lipoma MONDO:0005165 DOID:3315 DOID:0060084 benign neoplasm +MONDO:0005109 HIV infectious disease MONDO:0005108 DOID:526 DOID:934 viral infectious disease +MONDO:0005111 Epstein-Barr virus infection MONDO:0005108 DOID:2938 DOID:934 viral infectious disease +MONDO:0005112 malignant pleural mesothelioma MONDO:0000376 DOID:7474 DOID:0050615 respiratory system cancer +MONDO:0005112 malignant pleural mesothelioma MONDO:0002037 DOID:7474 DOID:1532 pleural disorder +MONDO:0005115 temporal lobe epilepsy MONDO:0005384 DOID:3328 DOID:2234 focal epilepsy +MONDO:0005131 cervical carcinoma MONDO:0004993 DOID:2893 DOID:305 carcinoma +MONDO:0005133 endometriosis MONDO:0002263 DOID:289 DOID:229 female reproductive system disorder +MONDO:0005146 post-traumatic stress disorder MONDO:0005618 DOID:2055 DOID:2030 anxiety disorder +MONDO:0005161 human papilloma virus infection MONDO:0005108 DOID:11166 DOID:934 viral infectious disease +MONDO:0005183 ovarian cystadenoma MONDO:0000646 DOID:3269 DOID:0060112 ovarian benign neoplasm +MONDO:0005184 pancreatic ductal adenocarcinoma MONDO:0005192 DOID:3587 DOID:4905 exocrine pancreatic carcinoma +MONDO:0005192 exocrine pancreatic carcinoma MONDO:0004993 DOID:4905 DOID:305 carcinoma +MONDO:0005211 ovarian serous adenocarcinoma MONDO:0005140 DOID:0050933 DOID:4001 ovarian carcinoma +MONDO:0005212 rhabdomyosarcoma MONDO:0005089 DOID:3247 DOID:1115 sarcoma +MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0006474 DOID:5974 DOID:2671 transitional cell carcinoma +MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0018874 DOID:0081085 DOID:9119 acute myeloid leukemia +MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0018874 DOID:0081086 DOID:9119 acute myeloid leukemia +MONDO:0005230 cellulitis MONDO:0005093 DOID:3488 DOID:37 skin disorder +MONDO:0005231 hepatitis C virus infection MONDO:0005108 DOID:1883 DOID:934 viral infectious disease +MONDO:0005238 round cell liposarcoma MONDO:0005060 DOID:5692 DOID:3382 liposarcoma +MONDO:0005249 pneumonia MONDO:0005275 DOID:552 DOID:850 lung disorder +MONDO:0005271 allergic disease MONDO:0005046 DOID:1205 DOID:2914 immune system disorder +MONDO:0005281 gallbladder disorder MONDO:0004335 DOID:0060262 DOID:77 digestive system disorder +MONDO:0005301 multiple sclerosis MONDO:0002562 DOID:2377 DOID:3213 demyelinating disease +MONDO:0005302 attention deficit hyperactivity disorder, inattentive type MONDO:0000592 DOID:1094 DOID:0060038 specific developmental disorder +MONDO:0005306 ankylosing spondylitis MONDO:0000589 DOID:7147 DOID:0060032 autoimmune disorder of musculoskeletal system +MONDO:0005306 ankylosing spondylitis MONDO:0000812 DOID:7147 DOID:0060564 vertebral column disorder +MONDO:0005306 ankylosing spondylitis MONDO:0005578 DOID:7147 DOID:848 arthritic joint disease +MONDO:0005316 bacterial vaginosis MONDO:0002234 DOID:3385 DOID:2170 vaginitis +MONDO:0005316 bacterial vaginosis MONDO:0005113 DOID:3385 DOID:104 bacterial infectious disease +MONDO:0005336 myopathy MONDO:0003939 DOID:423 DOID:66 muscle tissue disorder +MONDO:0005339 androgenetic alopecia MONDO:0004907 DOID:0050801 DOID:987 alopecia +MONDO:0005341 skin basal cell carcinoma MONDO:0002656 DOID:2513 DOID:3451 skin carcinoma +MONDO:0005344 hepatitis B virus infection MONDO:0005108 DOID:2043 DOID:934 viral infectious disease +MONDO:0005364 Graves disease MONDO:0000569 DOID:12361 DOID:0060005 autoimmune disorder of endocrine system +MONDO:0005387 primary ovarian failure MONDO:0005558 DOID:5426 DOID:1100 ovarian disorder +MONDO:0005388 primary biliary cholangitis MONDO:0005155 DOID:12236 DOID:5082 cirrhosis of liver +MONDO:0005411 gallbladder cancer MONDO:0005281 DOID:3121 DOID:0060262 gallbladder disorder +MONDO:0005417 wet macular degeneration MONDO:0002175 DOID:10873 DOID:2007 degeneration of macula and posterior pole +MONDO:0005429 prion disease MONDO:0005550 DOID:649 DOID:0050117 infectious disease +MONDO:0005446 cutaneous leishmaniasis MONDO:0005093 DOID:9111 DOID:37 skin disorder +MONDO:0005447 testicular cancer MONDO:0002329 DOID:2998 DOID:2519 testicular disorder +MONDO:0005484 colorectal adenoma MONDO:0004972 DOID:0050860 DOID:657 adenoma +MONDO:0005484 colorectal adenoma MONDO:0004972 DOID:0050914 DOID:657 adenoma +MONDO:0005484 colorectal adenoma MONDO:0021118 DOID:0050860 DOID:4610 intestinal neoplasm +MONDO:0005484 colorectal adenoma MONDO:0021118 DOID:0050914 DOID:4610 intestinal neoplasm +MONDO:0005492 urticaria MONDO:0005093 DOID:1555 DOID:37 skin disorder +MONDO:0005494 triple-negative breast carcinoma MONDO:0007254 DOID:0060081 DOID:1612 breast cancer +MONDO:0005496 bile duct carcinoma MONDO:0004993 DOID:4897 DOID:305 carcinoma +MONDO:0005502 dengue disease MONDO:0005108 DOID:12205 DOID:934 viral infectious disease +MONDO:0005503 developmental disorder of mental health MONDO:0002025 DOID:0060037 DOID:150 psychiatric disorder +MONDO:0005515 oral cavity cancer MONDO:0006858 DOID:8618 DOID:403 mouth disorder +MONDO:0005518 pseudohermaphroditism MONDO:0002145 DOID:3765 DOID:1923 disorder of sexual differentiation +MONDO:0005519 renal pelvis carcinoma MONDO:0002367 DOID:4919 DOID:263 kidney cancer +MONDO:0005519 renal pelvis carcinoma MONDO:0004993 DOID:4919 DOID:305 carcinoma +MONDO:0005522 small intestine carcinoma MONDO:0004993 DOID:4907 DOID:305 carcinoma +MONDO:0005524 sweat gland carcinoma MONDO:0004993 DOID:5667 DOID:305 carcinoma +MONDO:0005534 ileocolitis MONDO:0005011 DOID:0060190 DOID:8778 Crohn disease +MONDO:0005538 proctitis MONDO:0001593 DOID:3127 DOID:1285 rectal disorder +MONDO:0005541 spondylolysis MONDO:0000812 DOID:2300 DOID:0060564 vertebral column disorder +MONDO:0005550 infectious disease MONDO:0000001 DOID:0050117 DOID:4 disease +MONDO:0005563 nut midline carcinoma MONDO:0004993 DOID:0060463 DOID:305 carcinoma +MONDO:0005572 polycythemia due to hypoxia MONDO:0002438 DOID:2835 DOID:2834 acquired polycythemia +MONDO:0005579 idiopathic generalized epilepsy MONDO:0005027 DOID:1827 DOID:1826 epilepsy +MONDO:0005590 breast ductal adenocarcinoma MONDO:0004989 DOID:3007 DOID:3459 breast carcinoma +MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0005096 DOID:2876 DOID:1749 squamous cell carcinoma +MONDO:0005609 herpes zoster MONDO:0005108 DOID:8536 DOID:934 viral infectious disease +MONDO:0005611 bladder transitional cell carcinoma MONDO:0006474 DOID:4006 DOID:2671 transitional cell carcinoma +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0005096 DOID:5637 DOID:1749 squamous cell carcinoma +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0009831 DOID:5637 DOID:1793 malignant pancreatic neoplasm +MONDO:0005616 pulmonary mucoepidermoid carcinoma MONDO:0005138 DOID:0050932 DOID:3905 lung carcinoma +MONDO:0005619 typhoid fever MONDO:0000314 DOID:13258 DOID:0050338 primary bacterial infectious disease +MONDO:0005620 cerebral amyloid angiopathy MONDO:0019052 DOID:9246 DOID:655 inborn errors of metabolism +MONDO:0005620 cerebral amyloid angiopathy MONDO:0019065 DOID:9246 DOID:9120 amyloidosis +MONDO:0005628 male breast carcinoma MONDO:0007254 DOID:1614 DOID:1612 breast cancer +MONDO:0005634 acute hemorrhagic conjunctivitis MONDO:0005108 DOID:11227 DOID:934 viral infectious disease +MONDO:0005634 acute hemorrhagic conjunctivitis MONDO:0006170 DOID:11227 DOID:4251 conjunctival disorder +MONDO:0005635 adenomyoma MONDO:0005165 DOID:2609 DOID:0060084 benign neoplasm +MONDO:0005642 atopic conjunctivitis MONDO:0005271 DOID:11204 DOID:1205 allergic disease +MONDO:0005645 ancylostomiasis MONDO:0004664 DOID:12841 DOID:883 helminthiasis +MONDO:0005647 anogenital human papillomavirus infection MONDO:0005108 DOID:11168 DOID:934 viral infectious disease +MONDO:0005650 Arenaviridae infectious disease MONDO:0005108 DOID:3944 DOID:934 viral infectious disease +MONDO:0005654 ascariasis MONDO:0004664 DOID:456 DOID:883 helminthiasis +MONDO:0005655 ascaridiasis MONDO:0004664 DOID:3108 DOID:883 helminthiasis +MONDO:0005669 black piedra MONDO:0024268 DOID:12711 DOID:0050133 superficial mycosis +MONDO:0005673 blind loop syndrome MONDO:0005020 DOID:10606 DOID:5295 intestinal disorder +MONDO:0005688 campylobacteriosis MONDO:0005113 DOID:13622 DOID:104 bacterial infectious disease +MONDO:0005692 cat-scratch disease MONDO:0004928 DOID:11258 DOID:9942 lymph node disorder +MONDO:0005694 cecal neoplasm MONDO:0021118 DOID:1517 DOID:4610 intestinal neoplasm +MONDO:0005696 central nervous system tuberculosis MONDO:0002602 DOID:1638 DOID:331 central nervous system disorder +MONDO:0005700 chickenpox MONDO:0005108 DOID:8659 DOID:934 viral infectious disease +MONDO:0005708 Colorado tick fever MONDO:0005108 DOID:4885 DOID:934 viral infectious disease +MONDO:0005709 common cold MONDO:0004867 DOID:10459 DOID:974 upper respiratory tract disorder +MONDO:0005720 cowpox MONDO:0005108 DOID:8956 DOID:934 viral infectious disease +MONDO:0005722 croup MONDO:0005087 DOID:9395 DOID:1579 respiratory system disorder +MONDO:0005728 diaphragm disorder MONDO:0003939 DOID:10481 DOID:0080000 muscle tissue disorder +MONDO:0005736 eastern equine encephalitis MONDO:0005108 DOID:10841 DOID:934 viral infectious disease +MONDO:0005736 eastern equine encephalitis MONDO:0005560 DOID:10841 DOID:936 brain disorder +MONDO:0005737 Ebola hemorrhagic fever MONDO:0005108 DOID:4325 DOID:934 viral infectious disease +MONDO:0005738 echinococcosis MONDO:0004664 DOID:1496 DOID:883 helminthiasis +MONDO:0005744 yolk sac tumor MONDO:0005040 DOID:1911 DOID:2994 germ cell tumor +MONDO:0005746 enterobiasis MONDO:0004664 DOID:7457 DOID:883 helminthiasis +MONDO:0005752 epidural abscess MONDO:0002602 DOID:11387 DOID:331 central nervous system disorder +MONDO:0005769 geniculate herpes zoster MONDO:0002098 DOID:9210 DOID:1756 facial nerve disorder +MONDO:0005779 hand, foot and mouth disease MONDO:0005108 DOID:10881 DOID:934 viral infectious disease +MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome MONDO:0005108 DOID:11266 DOID:934 viral infectious disease +MONDO:0005787 hepatic tuberculosis MONDO:0005154 DOID:407 DOID:409 liver disorder +MONDO:0005788 hepatitis E virus infection MONDO:0005108 DOID:4411 DOID:934 viral infectious disease +MONDO:0005789 hepatitis D virus infection MONDO:0005108 DOID:2047 DOID:934 viral infectious disease +MONDO:0005790 hepatitis A virus infection MONDO:0005108 DOID:12549 DOID:934 viral infectious disease +MONDO:0005800 hordeolum MONDO:0003382 DOID:9909 DOID:530 eyelid disorder +MONDO:0005800 hordeolum MONDO:0005113 DOID:9909 DOID:104 bacterial infectious disease +MONDO:0005808 inclusion conjunctivitis MONDO:0000315 DOID:13800 DOID:0050339 commensal bacterial infectious disease +MONDO:0005808 inclusion conjunctivitis MONDO:0006170 DOID:13800 DOID:4251 conjunctival disorder +MONDO:0005812 influenza MONDO:0005087 DOID:8469 DOID:1579 respiratory system disorder +MONDO:0005812 influenza MONDO:0005108 DOID:8469 DOID:934 viral infectious disease +MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:0006247 DOID:7848 DOID:5621 histiocytic and dendritic cell neoplasm +MONDO:0005814 intestinal cancer MONDO:0005020 DOID:10155 DOID:5295 intestinal disorder +MONDO:0005820 Lassa fever MONDO:0005108 DOID:9537 DOID:934 viral infectious disease +MONDO:0005833 lymphatic system disorder MONDO:0005046 DOID:75 DOID:2914 immune system disorder +MONDO:0005835 Lynch syndrome MONDO:0002254 DOID:3883 DOID:225 syndromic disease +MONDO:0005836 male reproductive organ cancer MONDO:0003150 DOID:3856 DOID:48 male reproductive system disorder +MONDO:0005844 chalazion MONDO:0004785 DOID:9903 DOID:9423 blepharitis +MONDO:0005845 meningoencephalitis MONDO:0002602 DOID:10554 DOID:331 central nervous system disorder +MONDO:0005861 multidrug-resistant tuberculosis MONDO:0018076 DOID:401 DOID:399 tuberculosis +MONDO:0005868 myelophthisic anemia MONDO:0015909 DOID:2354 DOID:12449 aplastic anemia +MONDO:0005872 nervous system cancer MONDO:0005071 DOID:3093 DOID:863 nervous system disorder +MONDO:0005880 oesophagostomiasis MONDO:0004664 DOID:3983 DOID:883 helminthiasis +MONDO:0005903 pericardial tuberculosis MONDO:0000474 DOID:4962 DOID:0050829 pericardium disorder +MONDO:0005913 phlebotomus fever MONDO:0005108 DOID:11360 DOID:934 viral infectious disease +MONDO:0005922 pleural tuberculosis MONDO:0002037 DOID:106 DOID:1532 pleural disorder +MONDO:0005933 pulmonary blastoma MONDO:0008903 DOID:4765 DOID:1324 lung cancer +MONDO:0005952 scarlet fever MONDO:0005113 DOID:8596 DOID:104 bacterial infectious disease +MONDO:0005963 sparganosis MONDO:0004664 DOID:10080 DOID:883 helminthiasis +MONDO:0005966 spleen cancer MONDO:0002332 DOID:672 DOID:2529 splenic disorder +MONDO:0005969 st. Louis encephalitis MONDO:0005108 DOID:10845 DOID:934 viral infectious disease +MONDO:0005974 strongyloidiasis MONDO:0004664 DOID:10955 DOID:883 helminthiasis +MONDO:0005984 tinea pedis MONDO:0005093 DOID:12403 DOID:37 skin disorder +MONDO:0005987 toxascariasis MONDO:0004664 DOID:3107 DOID:883 helminthiasis +MONDO:0005988 toxocariasis MONDO:0004664 DOID:9790 DOID:883 helminthiasis +MONDO:0005996 trichuriasis MONDO:0004664 DOID:1252 DOID:883 helminthiasis +MONDO:0006004 vasomotor rhinitis MONDO:0003014 DOID:4730 DOID:4483 rhinitis +MONDO:0006005 Venezuelan equine encephalitis MONDO:0005108 DOID:9584 DOID:934 viral infectious disease +MONDO:0006006 verrucous carcinoma MONDO:0005096 DOID:3737 DOID:1749 squamous cell carcinoma +MONDO:0006009 viral encephalitis MONDO:0005108 DOID:646 DOID:934 viral infectious disease +MONDO:0006009 viral encephalitis MONDO:0019956 DOID:646 DOID:9588 encephalitis +MONDO:0006011 viral hepatitis MONDO:0005108 DOID:1884 DOID:934 viral infectious disease +MONDO:0006012 viral pneumonia MONDO:0005108 DOID:10533 DOID:934 viral infectious disease +MONDO:0006014 vulvovaginal candidiasis MONDO:0001433 DOID:2272 DOID:121 vaginal disorder +MONDO:0006014 vulvovaginal candidiasis MONDO:0002026 DOID:2272 DOID:1508 candidiasis +MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:0005495 DOID:9931 DOID:9553 adrenal gland disorder +MONDO:0006019 yaws MONDO:0000314 DOID:10371 DOID:0050338 primary bacterial infectious disease +MONDO:0006028 cecum adenocarcinoma MONDO:0004970 DOID:3039 DOID:299 adenocarcinoma +MONDO:0006029 cecum carcinoma MONDO:0004993 DOID:1519 DOID:305 carcinoma +MONDO:0006034 gastric adenosquamous carcinoma MONDO:0004950 DOID:5635 DOID:5517 gastric carcinoma +MONDO:0006034 gastric adenosquamous carcinoma MONDO:0005096 DOID:5635 DOID:1749 squamous cell carcinoma +MONDO:0006043 metaplastic breast carcinoma MONDO:0004989 DOID:4680 DOID:3459 breast carcinoma +MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0001128 DOID:5515 DOID:10811 nasal cavity cancer +MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0005096 DOID:5515 DOID:1749 squamous cell carcinoma +MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0005082 DOID:3703 DOID:2526 prostate adenocarcinoma +MONDO:0006071 adenofibroma MONDO:0005165 DOID:2683 DOID:0060084 benign neoplasm +MONDO:0006076 adrenal gland neuroblastoma MONDO:0002817 DOID:5718 DOID:3953 adrenal gland cancer +MONDO:0006081 anal melanoma MONDO:0005105 DOID:14145 DOID:1909 melanoma +MONDO:0006082 anal squamous cell carcinoma MONDO:0005096 DOID:5525 DOID:1749 squamous cell carcinoma +MONDO:0006087 appendix adenocarcinoma MONDO:0004970 DOID:3608 DOID:299 adenocarcinoma +MONDO:0006108 bile duct adenoma MONDO:0002887 DOID:5381 DOID:4138 bile duct disorder +MONDO:0006108 bile duct adenoma MONDO:0004972 DOID:5381 DOID:657 adenoma +MONDO:0006108 bile duct adenoma MONDO:0005304 DOID:5381 DOID:0050625 biliary tract neoplasm +MONDO:0006132 cervical adenoid basal carcinoma MONDO:0005131 DOID:6428 DOID:2893 cervical carcinoma +MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0005131 DOID:4867 DOID:2893 cervical carcinoma +MONDO:0006134 cervical adenosquamous carcinoma MONDO:0002974 DOID:5636 DOID:4362 cervical cancer +MONDO:0006134 cervical adenosquamous carcinoma MONDO:0005096 DOID:5636 DOID:1749 squamous cell carcinoma +MONDO:0006172 conjunctival nevus MONDO:0000633 DOID:0050906 DOID:0060096 sensory organ benign neoplasm +MONDO:0006172 conjunctival nevus MONDO:0006170 DOID:0050906 DOID:4251 conjunctival disorder +MONDO:0006173 conjunctival squamous cell carcinoma MONDO:0005096 DOID:1748 DOID:1749 squamous cell carcinoma +MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0001572 DOID:5728 DOID:127 leiomyoma +MONDO:0006186 duodenal adenocarcinoma MONDO:0000920 DOID:10816 DOID:10021 duodenum cancer +MONDO:0006186 duodenal adenocarcinoma MONDO:0004970 DOID:10816 DOID:299 adenocarcinoma +MONDO:0006187 duodenal villous adenoma MONDO:0004972 DOID:0050927 DOID:657 adenoma +MONDO:0006189 eccrine porocarcinoma MONDO:0005506 DOID:7566 DOID:4921 eccrine sweat gland cancer +MONDO:0006197 endometrial small cell carcinoma MONDO:0004993 DOID:7139 DOID:305 carcinoma +MONDO:0006197 endometrial small cell carcinoma MONDO:0011962 DOID:7139 DOID:1380 endometrial cancer +MONDO:0006207 fallopian tube carcinosarcoma MONDO:0002158 DOID:1970 DOID:1964 fallopian tube cancer +MONDO:0006216 gallbladder adenoma MONDO:0004972 DOID:0050893 DOID:657 adenoma +MONDO:0006217 gallbladder adenosquamous carcinoma MONDO:0003220 DOID:5627 DOID:4948 gallbladder carcinoma +MONDO:0006217 gallbladder adenosquamous carcinoma MONDO:0005096 DOID:5627 DOID:1749 squamous cell carcinoma +MONDO:0006234 grade III prostatic intraepithelial neoplasia MONDO:0003105 DOID:8634 DOID:47 prostate disorder +MONDO:0006244 HER2 positive breast carcinoma MONDO:0007254 DOID:0060079 DOID:1612 breast cancer +MONDO:0006247 histiocytic and dendritic cell neoplasm MONDO:0002334 DOID:5621 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0006265 laryngeal small cell carcinoma MONDO:0002352 DOID:7144 DOID:2596 larynx cancer +MONDO:0006265 laryngeal small cell carcinoma MONDO:0004993 DOID:7144 DOID:305 carcinoma +MONDO:0006275 lung giant cell carcinoma MONDO:0003050 DOID:5583 DOID:4556 lung large cell carcinoma +MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0005275 DOID:3319 DOID:850 lung disorder +MONDO:0006279 lung sarcomatoid carcinoma MONDO:0005138 DOID:0080777 DOID:3905 lung carcinoma +MONDO:0006280 lung sclerosing hemangioma MONDO:0002732 DOID:5766 DOID:3683 lung benign neoplasm +MONDO:0006280 lung sclerosing hemangioma MONDO:0006500 DOID:495 DOID:255 hemangioma +MONDO:0006280 lung sclerosing hemangioma MONDO:0006500 DOID:5766 DOID:255 hemangioma +MONDO:0006288 malignant adrenal gland pheochromocytoma MONDO:0003606 DOID:0080347 DOID:5719 adrenal medulla cancer +MONDO:0006295 malignant urinary system neoplasm MONDO:0002118 DOID:3996 DOID:18 urinary system disorder +MONDO:0006303 middle ear squamous cell carcinoma MONDO:0005096 DOID:5526 DOID:1749 squamous cell carcinoma +MONDO:0006311 myelodysplastic/myeloproliferative neoplasm MONDO:0005170 DOID:4972 DOID:0070004 myeloid neoplasm +MONDO:0006343 ovarian transitional cell carcinoma MONDO:0002229 DOID:4000 DOID:2152 ovarian epithelial tumor +MONDO:0006344 ovarian yolk sac tumor MONDO:0003408 DOID:5350 DOID:5351 ovarian primitive germ cell tumor +MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0004700 DOID:0050931 DOID:9036 parotid gland cancer +MONDO:0006375 placental hemangioma MONDO:0000632 DOID:277 DOID:0060095 uterine benign neoplasm +MONDO:0006375 placental hemangioma MONDO:0005917 DOID:277 DOID:780 placenta disorder +MONDO:0006390 prostate small cell carcinoma MONDO:0004993 DOID:7141 DOID:305 carcinoma +MONDO:0006390 prostate small cell carcinoma MONDO:0008315 DOID:7141 DOID:10283 prostate cancer +MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma MONDO:0004669 DOID:297 DOID:8850 salivary gland cancer +MONDO:0006414 skin sarcoma MONDO:0002898 DOID:2687 DOID:4159 skin cancer +MONDO:0006414 skin sarcoma MONDO:0005089 DOID:2687 DOID:1115 sarcoma +MONDO:0006423 soft tissue chondroma MONDO:0000654 DOID:3814 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0006426 spinal cord primitive neuroectodermal tumor MONDO:0005462 DOID:6872 DOID:171 primitive neuroectodermal tumor +MONDO:0006446 testicular embryonal carcinoma MONDO:0005447 DOID:5680 DOID:2998 testicular cancer +MONDO:0006463 thyroid gland mucoepidermoid carcinoma MONDO:0015075 DOID:4687 DOID:3963 thyroid gland carcinoma +MONDO:0006470 tonsillar squamous cell carcinoma MONDO:0005096 DOID:0050920 DOID:1749 squamous cell carcinoma +MONDO:0006470 tonsillar squamous cell carcinoma MONDO:0006998 DOID:0050920 DOID:8858 tonsil cancer +MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0005184 DOID:7718 DOID:3498 pancreatic ductal adenocarcinoma +MONDO:0006482 ureter small cell carcinoma MONDO:0004993 DOID:6886 DOID:305 carcinoma +MONDO:0006482 ureter small cell carcinoma MONDO:0008627 DOID:6886 DOID:11819 ureter cancer +MONDO:0006486 uveal melanoma MONDO:0005105 DOID:6039 DOID:1909 melanoma +MONDO:0006497 cerebral palsy MONDO:0005560 DOID:1969 DOID:936 brain disorder +MONDO:0006500 hemangioma MONDO:0000629 DOID:255 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0006500 hemangioma MONDO:0005165 DOID:255 DOID:0060084 benign neoplasm +MONDO:0006500 hemangioma MONDO:0005385 DOID:255 DOID:178 vascular disorder +MONDO:0006512 estrogen-receptor positive breast cancer MONDO:0007254 DOID:0060075 DOID:1612 breast cancer +MONDO:0006513 estrogen-receptor negative breast cancer MONDO:0007254 DOID:0060076 DOID:1612 breast cancer +MONDO:0006525 allergic contact dermatitis MONDO:0005271 DOID:3042 DOID:1205 allergic disease +MONDO:0006526 allergic urticaria MONDO:0005271 DOID:10612 DOID:1205 allergic disease +MONDO:0006528 bacterial exanthem MONDO:0005113 DOID:0050487 DOID:104 bacterial infectious disease +MONDO:0006543 epidermolysis bullosa dystrophica MONDO:0006541 DOID:4959 DOID:2730 epidermolysis bullosa +MONDO:0006549 fibroepithelial polyp of the anus MONDO:0002519 DOID:8170 DOID:3128 anus disorder +MONDO:0006583 necrobiosis lipoidica MONDO:0005093 DOID:3486 DOID:37 skin disorder +MONDO:0006597 photosensitivity disease MONDO:0002406 DOID:3159 DOID:2723 dermatitis +MONDO:0006606 scleredema adultorum MONDO:0005093 DOID:3140 DOID:37 skin disorder +MONDO:0006639 adrenal cortex carcinoma MONDO:0002816 DOID:660 DOID:3952 adrenal cortex disorder +MONDO:0006639 adrenal cortex carcinoma MONDO:0002817 DOID:660 DOID:3953 adrenal gland cancer +MONDO:0006639 adrenal cortex carcinoma MONDO:0004970 DOID:3959 DOID:299 adenocarcinoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0004993 DOID:3948 DOID:305 carcinoma +MONDO:0006640 adrenal gland hyperfunction MONDO:0005495 DOID:3947 DOID:9553 adrenal gland disorder +MONDO:0006658 arteriolosclerosis MONDO:0002277 DOID:5162 DOID:2349 arteriosclerosis disorder +MONDO:0006659 arteriosclerosis obliterans MONDO:0002277 DOID:5160 DOID:2349 arteriosclerosis disorder +MONDO:0006665 chronic atrophic gastritis MONDO:0004966 DOID:8929 DOID:4029 gastritis +MONDO:0006676 beriberi MONDO:0006873 DOID:0070313 DOID:5113 nutritional deficiency disease +MONDO:0006683 brachial plexus neuropathy MONDO:0005244 DOID:3690 DOID:870 peripheral neuropathy +MONDO:0006700 choroid cancer MONDO:0001898 DOID:12759 DOID:1417 optic choroid disorder +MONDO:0006709 common bile duct neoplasm MONDO:0005304 DOID:4608 DOID:0050625 biliary tract neoplasm +MONDO:0006717 cutaneous fibrous histiocytoma MONDO:0002531 DOID:4418 DOID:3165 skin neoplasm +MONDO:0006734 benign duodenal neoplasm MONDO:0002866 DOID:1737 DOID:4072 duodenal disorder +MONDO:0006734 benign duodenal neoplasm MONDO:0004251 DOID:1737 DOID:7505 small intestine neoplasm +MONDO:0006793 hyperpituitarism MONDO:0003381 DOID:2444 DOID:53 pituitary gland disorder +MONDO:0006834 lip cancer MONDO:0004748 DOID:8564 DOID:9297 lip disorder +MONDO:0006851 meconium aspiration syndrome MONDO:0005275 DOID:11049 DOID:850 lung disorder +MONDO:0006861 myeloid sarcoma MONDO:0002334 DOID:8683 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0006876 ocular tuberculosis MONDO:0005328 DOID:0070344 DOID:5614 eye disorder +MONDO:0006876 ocular tuberculosis MONDO:0018076 DOID:0070344 DOID:399 tuberculosis +MONDO:0006915 polyradiculoneuropathy MONDO:0003620 DOID:4308 DOID:574 peripheral nervous system disorder +MONDO:0006932 pulmonary edema MONDO:0021113 DOID:11396 DOID:11162 respiratory failure +MONDO:0006938 pyelitis MONDO:0005240 DOID:2744 DOID:557 kidney disorder +MONDO:0006946 renal osteodystrophy MONDO:0005240 DOID:13068 DOID:557 kidney disorder +MONDO:0006952 retinopathy of prematurity MONDO:0005283 DOID:13025 DOID:5679 retinal disorder +MONDO:0006957 root caries MONDO:0005276 DOID:14089 DOID:216 dental caries +MONDO:0006962 sebaceous adenocarcinoma MONDO:0002898 DOID:4840 DOID:4159 skin cancer +MONDO:0006962 sebaceous adenocarcinoma MONDO:0004993 DOID:4840 DOID:305 carcinoma +MONDO:0006962 sebaceous adenocarcinoma MONDO:0006607 DOID:4840 DOID:9098 sebaceous gland disorder +MONDO:0006963 sebaceous gland neoplasm MONDO:0002531 DOID:5759 DOID:3165 skin neoplasm +MONDO:0006976 somatostatinoma MONDO:0019496 DOID:4430 DOID:169 neuroendocrine neoplasm +MONDO:0006982 subacute thyroiditis MONDO:0004126 DOID:7165 DOID:7166 thyroiditis +MONDO:0006984 subdural empyema MONDO:0002602 DOID:11389 DOID:331 central nervous system disorder +MONDO:0006996 thyroid crisis MONDO:0003240 DOID:12837 DOID:50 thyroid gland disorder +MONDO:0006998 tonsil cancer MONDO:0004608 DOID:8858 DOID:8557 oropharynx cancer +MONDO:0007001 tricuspid valve prolapse MONDO:0000471 DOID:5644 DOID:0050826 tricuspid valve disorder +MONDO:0007012 variant Creutzfeldt-Jakob disease MONDO:0005429 DOID:5435 DOID:649 prion disease +MONDO:0007019 vulvovaginitis MONDO:0002263 DOID:2273 DOID:229 female reproductive system disorder +MONDO:0007040 Sakati-Nyhan syndrome MONDO:0019796 DOID:0060359 DOID:12960 acrocephalosyndactyly +MONDO:0007043 Pfeiffer syndrome MONDO:0019796 DOID:14705 DOID:12960 acrocephalosyndactyly +MONDO:0007052 growth hormone secreting pituitary adenoma 1 MONDO:0006373 DOID:0112009 DOID:3829 pituitary gland adenoma +MONDO:0007057 Acroosteolysis dominant type MONDO:0005381 DOID:2736 DOID:0080001 bone disorder +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0015974 DOID:5810 DOID:627 severe combined immunodeficiency +MONDO:0007072 ADULT syndrome MONDO:0002254 DOID:0050601 DOID:225 syndromic disease +MONDO:0007079 alcohol dependence MONDO:0004938 DOID:0050741 DOID:9973 substance dependence +MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0003009 DOID:14080 DOID:446 hyperaldosteronism +MONDO:0007088 Alzheimer disease type 1 MONDO:0000426 DOID:0080348 DOID:0050736 autosomal dominant disease +MONDO:0007088 Alzheimer disease type 1 MONDO:0004975 DOID:0080348 DOID:10652 Alzheimer disease +MONDO:0007089 Alzheimer disease 2 MONDO:0004975 DOID:0110035 DOID:10652 Alzheimer disease +MONDO:0007092 amelogenesis imperfecta type 1B MONDO:0019507 DOID:0110052 DOID:2187 amelogenesis imperfecta +MONDO:0007094 amelogenesis imperfecta type 1A MONDO:0019507 DOID:0110054 DOID:2187 amelogenesis imperfecta +MONDO:0007097 Finnish type amyloidosis MONDO:0005328 DOID:0050637 DOID:5614 eye disorder +MONDO:0007099 familial visceral amyloidosis MONDO:0019052 DOID:0050636 DOID:655 inborn errors of metabolism +MONDO:0007099 familial visceral amyloidosis MONDO:0019065 DOID:0050636 DOID:9120 amyloidosis +MONDO:0007100 familial amyloid neuropathy MONDO:0019052 DOID:0050638 DOID:655 inborn errors of metabolism +MONDO:0007100 familial amyloid neuropathy MONDO:0019065 DOID:0050638 DOID:9120 amyloidosis +MONDO:0007103 amyotrophic lateral sclerosis type 1 MONDO:0004976 DOID:0060193 DOID:332 amyotrophic lateral sclerosis +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:0005559 DOID:0111246 DOID:1289 neurodegenerative disease +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0004976 DOID:0060213 DOID:332 amyotrophic lateral sclerosis +MONDO:0007108 anal canal carcinoma MONDO:0004993 DOID:6126 DOID:305 carcinoma +MONDO:0007130 congenital total pulmonary venous return anomaly MONDO:0005453 DOID:4297 DOID:1682 congenital heart disease +MONDO:0007135 nonsyndromic congenital nail disorder 6 MONDO:0019284 DOID:0080084 DOID:0080683 inherited isolated nail anomaly +MONDO:0007145 aplasia cutis congenita MONDO:0005093 DOID:0080661 DOID:37 skin disorder +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 MONDO:0016587 DOID:0110070 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0007154 arteriovenous malformations of the brain MONDO:0006500 DOID:0060688 DOID:255 hemangioma +MONDO:0007164 spastic ataxia 1 MONDO:0000426 DOID:0050772 DOID:0050736 autosomal dominant disease +MONDO:0007164 spastic ataxia 1 MONDO:0017845 DOID:0050772 DOID:0050952 spastic ataxia +MONDO:0007165 spastic ataxia 7 MONDO:0000426 DOID:0050945 DOID:0050736 autosomal dominant disease +MONDO:0007165 spastic ataxia 7 MONDO:0017845 DOID:0050945 DOID:0050952 spastic ataxia +MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO:0005328 DOID:0111228 DOID:5614 eye disorder +MONDO:0007181 axial osteomalacia MONDO:0002933 DOID:0080039 DOID:4254 osteosclerosis +MONDO:0007182 Machado-Joseph disease MONDO:0020380 DOID:1440 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007186 gastroesophageal reflux disease MONDO:0004335 DOID:8534 DOID:77 digestive system disorder +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0002254 DOID:2512 DOID:225 syndromic disease +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0000429 DOID:14778 DOID:0050739 autosomal genetic disease +MONDO:0007220 brachydactyly type B1 MONDO:0021004 DOID:0110969 DOID:0050581 brachydactyly +MONDO:0007223 brachydactyly type E1 MONDO:0021004 DOID:0110972 DOID:0050581 brachydactyly +MONDO:0007239 epidermolytic ichthyosis MONDO:0019269 DOID:4603 DOID:1697 ichthyosis +MONDO:0007254 breast cancer MONDO:0002657 DOID:1612 DOID:3463 breast disorder +MONDO:0007254 breast cancer MONDO:0004992 DOID:1612 DOID:0050686 cancer +MONDO:0007256 hepatocellular carcinoma MONDO:0002691 DOID:686 DOID:3571 liver cancer +MONDO:0007256 hepatocellular carcinoma MONDO:0004993 DOID:686 DOID:305 carcinoma +MONDO:0007269 dilated cardiomyopathy 1A MONDO:0005021 DOID:0110425 DOID:12930 dilated cardiomyopathy +MONDO:0007270 cardiomyopathy, familial restrictive, 1 MONDO:0005201 DOID:0111425 DOID:397 restrictive cardiomyopathy +MONDO:0007278 cataract 32 multiple types MONDO:0005129 DOID:0110227 DOID:83 cataract +MONDO:0007279 cataract 7 MONDO:0005129 DOID:0110260 DOID:83 cataract +MONDO:0007280 cataract 8 multiple types MONDO:0005129 DOID:0110228 DOID:83 cataract +MONDO:0007283 cataract 42 MONDO:0005129 DOID:0110237 DOID:83 cataract +MONDO:0007284 cataract 20 multiple types MONDO:0005129 DOID:0110240 DOID:83 cataract +MONDO:0007286 cataract 30 MONDO:0005129 DOID:0110248 DOID:83 cataract +MONDO:0007287 cataract 41 MONDO:0005129 DOID:0110241 DOID:83 cataract +MONDO:0007288 cataract 6 multiple types MONDO:0005129 DOID:0110229 DOID:83 cataract +MONDO:0007289 cataract 13 with adult I phenotype MONDO:0005129 DOID:0110242 DOID:83 cataract +MONDO:0007290 cataract 5 multiple types MONDO:0005129 DOID:0110255 DOID:83 cataract +MONDO:0007294 central core myopathy MONDO:0019952 DOID:3529 DOID:0081337 congenital myopathy +MONDO:0007296 spinocerebellar ataxia type 31 MONDO:0020380 DOID:0050980 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007298 spinocerebellar ataxia type 29 MONDO:0020380 DOID:0050978 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0000426 DOID:0110152 DOID:0050736 autosomal dominant disease +MONDO:0007321 autosomal dominant chondrodysplasia punctata MONDO:0019701 DOID:0060293 DOID:2581 chondrodysplasia punctata +MONDO:0007339 blepharocheilodontic syndrome MONDO:0002254 DOID:0080344 DOID:225 syndromic disease +MONDO:0007361 C1 inhibitor deficiency MONDO:0003832 DOID:0060002 DOID:626 complement deficiency +MONDO:0007400 Jackson-Weiss syndrome MONDO:0002254 DOID:0111337 DOID:225 syndromic disease +MONDO:0007404 Cri-du-chat syndrome MONDO:0000761 DOID:12580 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007405 Crouzon syndrome MONDO:0015469 DOID:2339 DOID:2340 craniosynostosis +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0002254 DOID:0050660 DOID:225 syndromic disease +MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 MONDO:0015448 DOID:0080111 DOID:0111139 mitochondrial complex III deficiency +MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0020380 DOID:0060162 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome MONDO:0005516 DOID:0080721 DOID:2256 osteochondrodysplasia +MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0019288 DOID:0060257 DOID:10123 skin pigmentation disorder +MONDO:0007488 Lewy body dementia MONDO:0001627 DOID:12217 DOID:1307 dementia +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0000476 DOID:0060730 DOID:0050835 generalized dystonia +MONDO:0007493 torsion dystonia 4 MONDO:0003441 DOID:0090041 DOID:543 dystonic disorder +MONDO:0007495 dystonia 5 MONDO:0003441 DOID:0090043 DOID:543 dystonic disorder +MONDO:0007496 dystonia 12 MONDO:0003441 DOID:0090056 DOID:543 dystonic disorder +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:0000426 DOID:0111663 DOID:0050736 autosomal dominant disease +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:0016535 DOID:0111663 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0020066 DOID:14756 DOID:13359 Ehlers-Danlos syndrome +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0002254 DOID:5572 DOID:225 syndromic disease +MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia MONDO:0020076 DOID:0111344 DOID:2226 myeloproliferative neoplasm +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0002254 DOID:0111348 DOID:225 syndromic disease +MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0020380 DOID:0050981 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007576 esophageal cancer MONDO:0003749 DOID:5041 DOID:6050 esophageal disorder +MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 DOID:0111412 DOID:0050535 exudative vitreoretinopathy +MONDO:0007603 Felty syndrome MONDO:0007179 DOID:11042 DOID:417 autoimmune disease +MONDO:0007619 isolated congenital adermatoglyphia MONDO:0005093 DOID:0111357 DOID:37 skin disorder +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb MONDO:0000761 DOID:0060399 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007639 fundus albipunctatus MONDO:0019118 DOID:11105 DOID:8501 inherited retinal dystrophy +MONDO:0007662 anterior segment dysgenesis 4 MONDO:0019503 DOID:0080609 DOID:0060648 anterior segment dysgenesis +MONDO:0007667 subependymoma MONDO:0016698 DOID:4843 DOID:4844 ependymoma +MONDO:0007699 Hashimoto thyroiditis MONDO:0000569 DOID:7188 DOID:0060005 autoimmune disorder of endocrine system +MONDO:0007700 hawkinsinuria MONDO:0004736 DOID:0111362 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0000761 DOID:0110029 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007732 Holt-Oram syndrome MONDO:0002254 DOID:0060468 DOID:225 syndromic disease +MONDO:0007739 Huntington disease MONDO:0005559 DOID:12858 DOID:1289 neurodegenerative disease +MONDO:0007747 isolated hyperchlorhidrosis MONDO:0005093 DOID:0111371 DOID:37 skin disorder +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive MONDO:0005093 DOID:0111373 DOID:37 skin disorder +MONDO:0007787 Ambras type hypertrichosis universalis congenita MONDO:0019280 DOID:0111060 DOID:420 hypertrichosis +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia MONDO:0018555 DOID:0090078 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0000761 DOID:0060878 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007800 chromosome 18p deletion syndrome MONDO:0000761 DOID:0060406 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007810 autosomal dominant ichthyosis vulgaris MONDO:0019269 DOID:1702 DOID:1697 ichthyosis +MONDO:0007813 superficial epidermolytic ichthyosis MONDO:0019269 DOID:0060877 DOID:1697 ichthyosis +MONDO:0007838 Jacobsen syndrome MONDO:0000761 DOID:0111723 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia MONDO:0018555 DOID:0090083 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0007846 KBG syndrome MONDO:0002254 DOID:14780 DOID:225 syndromic disease +MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0002254 DOID:0060871 DOID:225 syndromic disease +MONDO:0007858 palmoplantar keratoderma, punctate type 1A MONDO:0017675 DOID:0080214 DOID:0060361 punctate palmoplantar keratoderma +MONDO:0007860 focal palmoplantar and gingival keratoderma MONDO:0006590 DOID:0070553 DOID:3390 palmoplantar keratosis +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0002254 DOID:4998 DOID:225 syndromic disease +MONDO:0007886 uterine corpus leiomyoma MONDO:0000632 DOID:13223 DOID:0060095 uterine benign neoplasm +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0021060 DOID:14291 DOID:0080690 RASopathy +MONDO:0007915 systemic lupus erythematosus MONDO:0003900 DOID:9074 DOID:65 connective tissue disorder +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0000761 DOID:0090016 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007937 renal hypomagnesemia 2 MONDO:0018100 DOID:0060885 DOID:0060879 familial primary hypomagnesemia +MONDO:0007943 Nager acrofacial dysostosis MONDO:0018237 DOID:5768 DOID:0060379 acrofacial dysostosis +MONDO:0007947 Marfan syndrome MONDO:0003900 DOID:14323 DOID:65 connective tissue disorder +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0002254 DOID:10041 DOID:225 syndromic disease +MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0002254 DOID:0111511 DOID:225 syndromic disease +MONDO:0007970 melorheostosis MONDO:0002933 DOID:4253 DOID:4254 osteosclerosis +MONDO:0007987 Kniest dysplasia MONDO:0005516 DOID:0080045 DOID:2256 osteochondrodysplasia +MONDO:0007988 autosomal dominant primary microcephaly MONDO:0001149 DOID:14725 DOID:10907 microcephaly +MONDO:0008013 chromosome 9p deletion syndrome MONDO:0000761 DOID:0060732 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008039 tropical spastic paraparesis MONDO:0005108 DOID:321 DOID:934 viral infectious disease +MONDO:0008051 tubular aggregate myopathy MONDO:0005336 DOID:0080089 DOID:423 myopathy +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0018958 DOID:0110927 DOID:3191 nemaline myopathy +MONDO:0008075 schwannomatosis MONDO:0000426 DOID:3204 DOID:0050736 autosomal dominant disease +MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0017169 DOID:10016 DOID:3125 multiple endocrine neoplasia +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0016295 DOID:0110720 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:0005244 DOID:0060843 DOID:870 peripheral neuropathy +MONDO:0008090 cyclic hematopoiesis MONDO:0001475 DOID:5339 DOID:1227 neutropenia +MONDO:0008093 nevus, epidermal MONDO:0005093 DOID:0111162 DOID:37 skin disorder +MONDO:0008111 oculodentodigital dysplasia MONDO:0002254 DOID:0060291 DOID:225 syndromic disease +MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:0020121 DOID:11719 DOID:9884 muscular dystrophy +MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0020380 DOID:0050954 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0008133 optic atrophy 3 MONDO:0000426 DOID:0111433 DOID:0050736 autosomal dominant disease +MONDO:0008133 optic atrophy 3 MONDO:0003608 DOID:0111433 DOID:5723 optic atrophy +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0000426 DOID:0111441 DOID:0050736 autosomal dominant disease +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0003608 DOID:0111441 DOID:5723 optic atrophy +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 DOID:0110334 DOID:12347 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 DOID:0110341 DOID:12347 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 DOID:0110340 DOID:12347 osteogenesis imperfecta +MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures MONDO:0019019 DOID:0110335 DOID:12347 osteogenesis imperfecta +MONDO:0008151 gnathodiaphyseal dysplasia MONDO:0005516 DOID:0111533 DOID:2256 osteochondrodysplasia +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:0000426 DOID:0110938 DOID:0050736 autosomal dominant disease +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:0017198 DOID:0110938 DOID:13533 osteopetrosis +MONDO:0008170 ovarian cancer MONDO:0005558 DOID:2394 DOID:1100 ovarian disorder +MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0019056 DOID:0111538 DOID:440 neuromuscular disease +MONDO:0008207 chondromalacia patellae MONDO:0005381 DOID:13357 DOID:0080001 bone disorder +MONDO:0008214 Pelger-Huet anomaly MONDO:0005570 DOID:9631 DOID:74 hematologic disorder +MONDO:0008222 Andersen-Tawil syndrome MONDO:0002442 DOID:0050434 DOID:2843 long QT syndrome +MONDO:0008226 periodontitis, aggressive 1 MONDO:0005076 DOID:1474 DOID:824 periodontitis +MONDO:0008228 pernicious anemia MONDO:0002280 DOID:13381 DOID:2355 anemia +MONDO:0008231 Peyronie disease MONDO:0002036 DOID:8616 DOID:1529 penile disorder +MONDO:0008233 pheochromocytoma MONDO:0000627 DOID:0050771 DOID:0060089 benign endocrine neoplasm +MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0017169 DOID:0050430 DOID:3125 multiple endocrine neoplasia +MONDO:0008244 piebaldism MONDO:0002051 DOID:3263 DOID:16 integumentary system disorder +MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO:0005328 DOID:0111541 DOID:5614 eye disorder +MONDO:0008260 Kindler syndrome MONDO:0005093 DOID:0060472 DOID:37 skin disorder +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:0004335 DOID:0050787 DOID:77 digestive system disorder +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0002254 DOID:0111543 DOID:225 syndromic disease +MONDO:0008303 familial male-limited precocious puberty MONDO:0005151 DOID:0111545 DOID:28 endocrine system disorder +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0015333 DOID:3911 DOID:0081332 progeroid syndrome +MONDO:0008315 prostate cancer MONDO:0003105 DOID:10283 DOID:47 prostate disorder +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO:0018638 DOID:0060855 DOID:4479 pseudohypoaldosteronism +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0017415 DOID:0081321 DOID:0080110 multiple pterygium syndrome +MONDO:0008346 pulmonary hemosiderosis MONDO:0005275 DOID:12118 DOID:850 lung disorder +MONDO:0008371 Dowling-Degos disease MONDO:0019288 DOID:0060256 DOID:10123 skin pigmentation disorder +MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0020128 DOID:0111552 DOID:231 motor neuron disorder +MONDO:0008412 intestinal schistosomiasis MONDO:0005020 DOID:0050597 DOID:5295 intestinal disorder +MONDO:0008422 autosomal dominant sideroblastic anemia MONDO:0015194 DOID:0060335 DOID:8955 sideroblastic anemia +MONDO:0008457 spinocerebellar ataxia type 6 MONDO:0020380 DOID:0050956 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0004976 DOID:0060204 DOID:332 amyotrophic lateral sclerosis +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0020380 DOID:0050955 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0005516 DOID:0080677 DOID:2256 osteochondrodysplasia +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0005516 DOID:4258 DOID:2256 osteochondrodysplasia +MONDO:0008492 stiff skin syndrome MONDO:0005093 DOID:0111561 DOID:37 skin disorder +MONDO:0008512 syndactyly type 1 MONDO:0000762 DOID:0111816 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0008512 syndactyly type 1 MONDO:0021002 DOID:0111816 DOID:11193 syndactyly +MONDO:0008514 syndactyly type 3 MONDO:0021002 DOID:0111817 DOID:11193 syndactyly +MONDO:0008515 syndactyly type 4 MONDO:0021002 DOID:0111818 DOID:11193 syndactyly +MONDO:0008516 syndactyly type 5 MONDO:0021002 DOID:0111819 DOID:11193 syndactyly +MONDO:0008521 tarsal-carpal coalition syndrome MONDO:0000426 DOID:0050789 DOID:0050736 autosomal dominant disease +MONDO:0008523 Blau syndrome MONDO:0002254 DOID:0050678 DOID:225 syndromic disease +MONDO:0008559 thrombophilia due to thrombin defect MONDO:0002305 DOID:0080701 DOID:2452 thrombophilia +MONDO:0008559 thrombophilia due to thrombin defect MONDO:0002305 DOID:0111907 DOID:2452 thrombophilia +MONDO:0008560 thrombophilia due to activated protein C resistance MONDO:0002305 DOID:0111902 DOID:2452 thrombophilia +MONDO:0008564 DiGeorge syndrome MONDO:0000761 DOID:11198 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008575 nicotine dependence MONDO:0004938 DOID:0050742 DOID:9973 substance dependence +MONDO:0008582 tooth and nail syndrome MONDO:0002254 DOID:6678 DOID:225 syndromic disease +MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:0004335 DOID:0080171 DOID:77 digestive system disorder +MONDO:0008592 tricho-dento-osseous syndrome MONDO:0002254 DOID:0111565 DOID:225 syndromic disease +MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0002254 DOID:14743 DOID:225 syndromic disease +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0002254 DOID:0080376 DOID:225 syndromic disease +MONDO:0008627 ureter cancer MONDO:0001926 DOID:11819 DOID:1426 ureteral disorder +MONDO:0008633 Muckle-Wells syndrome MONDO:0002254 DOID:0050854 DOID:225 syndromic disease +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0005385 DOID:0111567 DOID:178 vascular disorder +MONDO:0008644 velocardiofacial syndrome MONDO:0000761 DOID:12583 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0005520 DOID:0050948 DOID:10609 rickets +MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0004884 DOID:0111570 DOID:9799 eye degenerative disorder +MONDO:0008671 Waardenburg syndrome type 2A MONDO:0018094 DOID:0110950 DOID:9258 Waardenburg syndrome +MONDO:0008672 Watson syndrome MONDO:0000426 DOID:0070483 DOID:0050736 autosomal dominant disease +MONDO:0008672 Watson syndrome MONDO:0021060 DOID:0070483 DOID:0080690 RASopathy +MONDO:0008678 Williams syndrome MONDO:0000761 DOID:1928 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008681 WAGR syndrome MONDO:0000761 DOID:14515 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0000761 DOID:0050460 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008686 isolated familial wooly hair disorder MONDO:0002917 DOID:0111572 DOID:421 disorder of pilosebaceous unit +MONDO:0008692 abetalipoproteinemia MONDO:0001822 DOID:1386 DOID:1387 hypolipoproteinemia +MONDO:0008692 abetalipoproteinemia MONDO:0006025 DOID:1386 DOID:0050737 autosomal recessive disease +MONDO:0008715 acrofrontofacionasal dysostosis MONDO:0018234 DOID:0060226 DOID:1934 dysostosis +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency MONDO:0005152 DOID:0080150 DOID:9406 hypopituitarism +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO:0002525 DOID:0080153 DOID:3146 inherited lipid metabolism disorder +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:0002525 DOID:0080154 DOID:3146 inherited lipid metabolism disorder +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0002525 DOID:0080155 DOID:3146 inherited lipid metabolism disorder +MONDO:0008733 familial glucocorticoid deficiency MONDO:0005495 DOID:0080620 DOID:9553 adrenal gland disorder +MONDO:0008736 peroxisome biogenesis disorder 2B MONDO:0006025 DOID:0080622 DOID:0050737 autosomal recessive disease +MONDO:0008736 peroxisome biogenesis disorder 2B MONDO:0019234 DOID:0080622 DOID:0080377 peroxisome biogenesis disorder +MONDO:0008737 congenital afibrinogenemia MONDO:0001531 DOID:2236 DOID:1247 blood coagulation disease +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0018910 DOID:0070094 DOID:0050632 oculocutaneous albinism +MONDO:0008748 Hermansky-Pudlak syndrome 1 MONDO:0019312 DOID:0060539 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0008751 corticosterone methyloxidase type 1 deficiency MONDO:0005495 DOID:0080626 DOID:9553 adrenal gland disorder +MONDO:0008753 alkaptonuria MONDO:0004736 DOID:9270 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008757 alopecia universalis congenita MONDO:0004907 DOID:0050634 DOID:987 alopecia +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0018158 DOID:0080122 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0008760 beta-ketothiolase deficiency MONDO:0004736 DOID:14723 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008764 Leber congenital amaurosis 1 MONDO:0006025 DOID:0110078 DOID:0050737 autosomal recessive disease +MONDO:0008765 Leber congenital amaurosis 2 MONDO:0006025 DOID:0110016 DOID:0050737 autosomal recessive disease +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0016295 DOID:0110731 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:0016295 DOID:0110730 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0016295 DOID:0110726 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008770 amelogenesis imperfecta type 1C MONDO:0019507 DOID:0110056 DOID:2187 amelogenesis imperfecta +MONDO:0008772 amelogenesis imperfecta type 2A1 MONDO:0019507 DOID:0110057 DOID:2187 amelogenesis imperfecta +MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria MONDO:0004736 DOID:0111453 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile MONDO:0004976 DOID:0060194 DOID:332 amyotrophic lateral sclerosis +MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia MONDO:0004976 DOID:0110067 DOID:332 amyotrophic lateral sclerosis +MONDO:0008785 sideroblastic anemia 2 MONDO:0006025 DOID:0060065 DOID:0050737 autosomal recessive disease +MONDO:0008785 sideroblastic anemia 2 MONDO:0015194 DOID:0060065 DOID:8955 sideroblastic anemia +MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO:0019284 DOID:0080082 DOID:0080683 inherited isolated nail anomaly +MONDO:0008803 Antley-Bixler syndrome MONDO:0002254 DOID:0050462 DOID:225 syndromic disease +MONDO:0008803 Antley-Bixler syndrome MONDO:0006025 DOID:0050462 DOID:0050737 autosomal recessive disease +MONDO:0008803 Antley-Bixler syndrome MONDO:0015469 DOID:0081289 DOID:2340 craniosynostosis +MONDO:0008814 hyperargininemia MONDO:0004739 DOID:9278 DOID:9267 urea cycle disorder +MONDO:0008815 argininosuccinic aciduria MONDO:0004736 DOID:14755 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008818 arterial tortuosity syndrome MONDO:0003900 DOID:0050645 DOID:65 connective tissue disorder +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood MONDO:0005516 DOID:0090004 DOID:2256 osteochondrodysplasia +MONDO:0008830 aspartylglucosaminuria MONDO:0002561 DOID:0050461 DOID:3211 lysosomal storage disease +MONDO:0008853 Barber-Say syndrome MONDO:0002254 DOID:0060549 DOID:225 syndromic disease +MONDO:0008855 MHC class II deficiency MONDO:0015974 DOID:5812 DOID:627 severe combined immunodeficiency +MONDO:0008858 Behr syndrome MONDO:0005071 DOID:0111580 DOID:863 nervous system disorder +MONDO:0008865 Bietti crystalline corneoretinal dystrophy MONDO:0004580 DOID:0050664 DOID:8466 retinal degeneration +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 MONDO:0004822 DOID:0080526 DOID:9563 bronchiectasis +MONDO:0008890 progressive bulbar palsy MONDO:0020128 DOID:681 DOID:231 motor neuron disorder +MONDO:0008893 C syndrome MONDO:0002254 DOID:0111581 DOID:225 syndromic disease +MONDO:0008903 lung cancer MONDO:0005275 DOID:1324 DOID:850 lung disorder +MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0002525 DOID:0111585 DOID:3146 inherited lipid metabolism disorder +MONDO:0008925 cataract 46 juvenile-onset MONDO:0005129 DOID:0110243 DOID:83 cataract +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0015244 DOID:0080061 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0008945 myoclonic cerebellar dyssynergia MONDO:0005559 DOID:12707 DOID:1289 neurodegenerative disease +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) MONDO:0019609 DOID:0080476 DOID:905 Zellweger spectrum disorders +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) MONDO:0019609 DOID:0080477 DOID:905 Zellweger spectrum disorders +MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0006025 DOID:0110185 DOID:0050737 autosomal recessive disease +MONDO:0008963 Chediak-Higashi syndrome MONDO:0002254 DOID:2935 DOID:225 syndromic disease +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0000249 DOID:0060296 DOID:0050129 secretory diarrhea +MONDO:0008970 chondrodysplasia Blomstrand type MONDO:0005516 DOID:0060387 DOID:2256 osteochondrodysplasia +MONDO:0008974 Greenberg dysplasia MONDO:0019052 DOID:0111588 DOID:655 inborn errors of metabolism +MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0005516 DOID:0080026 DOID:2256 osteochondrodysplasia +MONDO:0008999 Cohen syndrome MONDO:0002254 DOID:0111590 DOID:225 syndromic disease +MONDO:0009006 complement component 2 deficiency MONDO:0003832 DOID:0060295 DOID:626 complement deficiency +MONDO:0009026 Costello syndrome MONDO:0021060 DOID:0050469 DOID:0080690 RASopathy +MONDO:0009031 craniodiaphyseal dysplasia MONDO:0002933 DOID:0080032 DOID:4254 osteosclerosis +MONDO:0009032 cranioectodermal dysplasia MONDO:0002254 DOID:0050577 DOID:225 syndromic disease +MONDO:0009032 cranioectodermal dysplasia MONDO:0006025 DOID:0050577 DOID:0050737 autosomal recessive disease +MONDO:0009039 Baller-Gerold syndrome MONDO:0001411 DOID:0050654 DOID:11971 synostosis +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type MONDO:0016175 DOID:0070141 DOID:3144 cutis laxa +MONDO:0009067 cystinuria MONDO:0004736 DOID:9266 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009067 cystinuria MONDO:0005240 DOID:9266 DOID:557 kidney disorder +MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0004069 DOID:3762 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0009070 D-glyceric aciduria MONDO:0019052 DOID:0111626 DOID:655 inborn errors of metabolism +MONDO:0009105 trichohepatoenteric syndrome MONDO:0002254 DOID:0111414 DOID:225 syndromic disease +MONDO:0009109 lysinuric protein intolerance MONDO:0004736 DOID:0060439 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009110 dicarboxylic aminoaciduria MONDO:0004736 DOID:0060650 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0019214 DOID:0111633 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009115 congenital lactase deficiency MONDO:0019214 DOID:0111646 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009123 orthostatic hypotension 1 MONDO:0005071 DOID:0090145 DOID:863 nervous system disorder +MONDO:0009123 orthostatic hypotension 1 MONDO:0019052 DOID:0090145 DOID:655 inborn errors of metabolism +MONDO:0009124 Dubowitz syndrome MONDO:0002254 DOID:14796 DOID:225 syndromic disease +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0006025 DOID:0050997 DOID:0050737 autosomal recessive disease +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0005516 DOID:0090032 DOID:2256 osteochondrodysplasia +MONDO:0009141 torsion dystonia 2 MONDO:0003441 DOID:0090038 DOID:543 dystonic disorder +MONDO:0009143 Meier-Gorlin syndrome 1 MONDO:0006025 DOID:0080512 DOID:0050737 autosomal recessive disease +MONDO:0009144 Ebstein anomaly MONDO:0000471 DOID:14289 DOID:0050826 tricuspid valve disorder +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0019287 DOID:0111647 DOID:2121 ectodermal dysplasia syndrome +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0006025 DOID:0111665 DOID:0050737 autosomal recessive disease +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0016535 DOID:0111665 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0002254 DOID:0060773 DOID:225 syndromic disease +MONDO:0009153 ectopia lentis et pupillae MONDO:0005328 DOID:0111648 DOID:5614 eye disorder +MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 MONDO:0018612 DOID:0070125 DOID:0050328 congenital hypothyroidism +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0002254 DOID:12714 DOID:225 syndromic disease +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0006025 DOID:0090017 DOID:0050737 autosomal recessive disease +MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0002254 DOID:0111668 DOID:225 syndromic disease +MONDO:0009210 congenital factor V deficiency MONDO:0001531 DOID:2216 DOID:1247 blood coagulation disease +MONDO:0009211 congenital factor VII deficiency MONDO:0001531 DOID:2215 DOID:1247 blood coagulation disease +MONDO:0009212 congenital factor X deficiency MONDO:0001531 DOID:2222 DOID:1247 blood coagulation disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0019245 DOID:0050464 DOID:9455 lysosomal lipid storage disorder +MONDO:0009232 Fuhrmann syndrome MONDO:0005497 DOID:0090067 DOID:0080006 bone development disease +MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0001531 DOID:0111676 DOID:1247 blood coagulation disease +MONDO:0009235 familial benign flecked retina MONDO:0005283 DOID:0111677 DOID:5679 retinal disorder +MONDO:0009249 hereditary fructose intolerance MONDO:0019214 DOID:9869 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:0019214 DOID:5204 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009252 essential fructosuria MONDO:0019214 DOID:0111680 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009254 fucosidosis MONDO:0002561 DOID:14500 DOID:3211 lysosomal storage disease +MONDO:0009263 GAPO syndrome MONDO:0002254 DOID:0112249 DOID:225 syndromic disease +MONDO:0009277 glaucoma 3A MONDO:0020366 DOID:11211 DOID:11212 congenital glaucoma +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0019052 DOID:0060358 DOID:655 inborn errors of metabolism +MONDO:0009288 glycogen storage disease Ib MONDO:0002413 DOID:0081330 DOID:0081329 glycogen storage disease I +MONDO:0009288 glycogen storage disease Ib MONDO:0002413 DOID:0081331 DOID:0081329 glycogen storage disease I +MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0015131 DOID:0112253 DOID:0111962 combined immunodeficiency +MONDO:0009315 congenital factor XII deficiency MONDO:0001531 DOID:2231 DOID:1247 blood coagulation disease +MONDO:0009324 Hartnup disease MONDO:0004736 DOID:1060 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009341 Mowat-Wilson syndrome MONDO:0002254 DOID:0060485 DOID:225 syndromic disease +MONDO:0009354 methylcobalamin deficiency type cblE MONDO:0004736 DOID:0112255 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009354 methylcobalamin deficiency type cblE MONDO:0006025 DOID:0112255 DOID:0050737 autosomal recessive disease +MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0004736 DOID:0112257 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:0004739 DOID:9280 DOID:9267 urea cycle disorder +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0004739 DOID:0112258 DOID:9267 urea cycle disorder +MONDO:0009388 hyperlysinemia MONDO:0004736 DOID:9274 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009393 ornithine translocase deficiency MONDO:0004736 DOID:0050720 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009412 scurvy MONDO:0006873 DOID:13724 DOID:5113 nutritional deficiency disease +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria MONDO:0005520 DOID:0050947 DOID:10609 rickets +MONDO:0009439 autosomal recessive congenital ichthyosis 2 MONDO:0017265 DOID:0060710 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0017265 DOID:0060713 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0009475 isovaleric acidemia MONDO:0000688 DOID:14753 DOID:0060159 inborn organic aciduria +MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia MONDO:0018555 DOID:0090092 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0009490 Papillon-Lefevre disease MONDO:0006999 DOID:3389 DOID:1091 tooth disorder +MONDO:0009490 Papillon-Lefevre disease MONDO:0019287 DOID:3389 DOID:2121 ectodermal dysplasia syndrome +MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0018158 DOID:0080128 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0004736 DOID:0070541 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009525 split hand-foot malformation 3 MONDO:0000762 DOID:0090025 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0009528 chylomicron retention disease MONDO:0002525 DOID:0060357 DOID:3146 inherited lipid metabolism disorder +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:0018100 DOID:0060881 DOID:0060879 familial primary hypomagnesemia +MONDO:0009550 renal hypomagnesemia 3 MONDO:0018100 DOID:0060880 DOID:0060879 familial primary hypomagnesemia +MONDO:0009552 mal de Meleda MONDO:0006590 DOID:0060862 DOID:3390 palmoplantar keratosis +MONDO:0009561 alpha-mannosidosis MONDO:0002561 DOID:3413 DOID:3211 lysosomal storage disease +MONDO:0009562 beta-mannosidosis MONDO:0002561 DOID:3633 DOID:3211 lysosomal storage disease +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0006025 DOID:0080195 DOID:0050737 autosomal recessive disease +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0004736 DOID:0060949 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009609 methylcobalamin deficiency type cblG MONDO:0004736 DOID:0112256 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009609 methylcobalamin deficiency type cblG MONDO:0006025 DOID:0112256 DOID:0050737 autosomal recessive disease +MONDO:0009613 methylmalonic aciduria, cblA type MONDO:0002012 DOID:0060742 DOID:14749 methylmalonic acidemia +MONDO:0009614 methylmalonic aciduria, cblB type MONDO:0002012 DOID:0060743 DOID:14749 methylmalonic acidemia +MONDO:0009635 microvillus inclusion disease MONDO:0000824 DOID:0060775 DOID:0060774 congenital diarrhea +MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0018158 DOID:0080121 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0009637 inborn mitochondrial myopathy MONDO:0005336 DOID:699 DOID:423 myopathy +MONDO:0009650 mucolipidosis type II MONDO:0019248 DOID:0080070 DOID:0080488 mucolipidosis +MONDO:0009652 GNPTG-mucolipidosis MONDO:0019248 DOID:0080678 DOID:0080488 mucolipidosis +MONDO:0009653 mucolipidosis type IV MONDO:0019248 DOID:0080490 DOID:0080488 mucolipidosis +MONDO:0009688 myasthenia gravis MONDO:0002977 DOID:437 DOID:438 autoimmune disorder of the nervous system +MONDO:0009690 congenital myasthenic syndrome 10 MONDO:0018940 DOID:0110668 DOID:3635 congenital myasthenic syndrome +MONDO:0009692 primary myelofibrosis MONDO:0005170 DOID:4971 DOID:0070004 myeloid neoplasm +MONDO:0009693 plasma cell myeloma MONDO:0004805 DOID:9538 DOID:9500 leukocyte disorder +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0002525 DOID:0090129 DOID:3146 inherited lipid metabolism disorder +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0019952 DOID:0080102 DOID:0081337 congenital myopathy +MONDO:0009725 nemaline myopathy 2 MONDO:0018958 DOID:0110928 DOID:3191 nemaline myopathy +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0002254 DOID:0060913 DOID:225 syndromic disease +MONDO:0009735 Netherton syndrome MONDO:0005093 DOID:0050474 DOID:37 skin disorder +MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000421 DOID:0080076 DOID:0050721 inborn serine deficiency +MONDO:0009737 galactosialidosis MONDO:0002561 DOID:0080540 DOID:3211 lysosomal storage disease +MONDO:0009738 sialidosis type 2 MONDO:0019248 DOID:3343 DOID:0080488 mucolipidosis +MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0018158 DOID:0080125 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0009749 giant axonal neuropathy 1 MONDO:0004183 DOID:0090068 DOID:7319 axonal neuropathy +MONDO:0009756 Niemann-Pick disease type A MONDO:0001982 DOID:0070111 DOID:14504 Niemann-Pick disease +MONDO:0009757 Niemann-Pick disease, type C1 MONDO:0001982 DOID:0070113 DOID:14504 Niemann-Pick disease +MONDO:0009760 Norman-Roberts syndrome MONDO:0018838 DOID:0060902 DOID:0050453 lissencephaly spectrum disorders +MONDO:0009775 Oguchi disease-1 MONDO:0016293 DOID:0110712 DOID:0050534 congenital stationary night blindness +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:0005181 DOID:0111522 DOID:12558 progressive external ophthalmoplegia +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:0006025 DOID:0111522 DOID:0050737 autosomal recessive disease +MONDO:0009786 optic atrophy 6 MONDO:0003608 DOID:0111435 DOID:5723 optic atrophy +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 DOID:0110339 DOID:12347 osteogenesis imperfecta +MONDO:0009805 osteogenesis imperfecta type 9 MONDO:0019019 DOID:0110349 DOID:12347 osteogenesis imperfecta +MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0006025 DOID:0110942 DOID:0050737 autosomal recessive disease +MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0017198 DOID:0110942 DOID:13533 osteopetrosis +MONDO:0009816 autosomal recessive osteopetrosis 2 MONDO:0006025 DOID:0110943 DOID:0050737 autosomal recessive disease +MONDO:0009816 autosomal recessive osteopetrosis 2 MONDO:0017198 DOID:0110943 DOID:13533 osteopetrosis +MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO:0006025 DOID:0110939 DOID:0050737 autosomal recessive disease +MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO:0017198 DOID:0110939 DOID:13533 osteopetrosis +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0006025 DOID:0110941 DOID:0050737 autosomal recessive disease +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0017198 DOID:0110941 DOID:13533 osteopetrosis +MONDO:0009831 malignant pancreatic neoplasm MONDO:0002356 DOID:1793 DOID:26 pancreas disorder +MONDO:0009835 subacute sclerosing panencephalitis MONDO:0005108 DOID:8970 DOID:934 viral infectious disease +MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO:0019046 DOID:0060790 DOID:0060786 leukodystrophy +MONDO:0009855 d-bifunctional protein deficiency MONDO:0019053 DOID:0090031 DOID:906 peroxisomal disease +MONDO:0009857 persistent Mullerian duct syndrome MONDO:0005039 DOID:0050791 DOID:15 reproductive system disorder +MONDO:0009861 phenylketonuria MONDO:0004736 DOID:9281 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009862 dihydropteridine reductase deficiency MONDO:0006025 DOID:0081130 DOID:0050737 autosomal recessive disease +MONDO:0009863 BH4-deficient hyperphenylalaninemia A MONDO:0006025 DOID:0090106 DOID:0050737 autosomal recessive disease +MONDO:0009877 Laron syndrome MONDO:0002254 DOID:9521 DOID:225 syndromic disease +MONDO:0009885 Scott syndrome MONDO:0001531 DOID:0111052 DOID:1247 blood coagulation disease +MONDO:0009891 acquired polycythemia vera MONDO:0020076 DOID:8997 DOID:2226 myeloproliferative neoplasm +MONDO:0009902 cutaneous porphyria MONDO:0005093 DOID:13271 DOID:37 skin disorder +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0006025 DOID:0081131 DOID:0050737 autosomal recessive disease +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0015333 DOID:0081333 DOID:0081332 progeroid syndrome +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0019053 DOID:0050797 DOID:906 peroxisomal disease +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0003900 DOID:2738 DOID:65 connective tissue disorder +MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0005027 DOID:0080768 DOID:1826 epilepsy +MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0019214 DOID:3651 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0006025 DOID:0070255 DOID:0050737 autosomal recessive disease +MONDO:0009959 peroxisome biogenesis disorder type 3B MONDO:0006025 DOID:0081241 DOID:0050737 autosomal recessive disease +MONDO:0009959 peroxisome biogenesis disorder type 3B MONDO:0019234 DOID:0081241 DOID:0080377 peroxisome biogenesis disorder +MONDO:0009973 reticular dysgenesis MONDO:0015974 DOID:0060020 DOID:627 severe combined immunodeficiency +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 MONDO:0015540 DOID:0110921 DOID:0050120 hemophagocytic syndrome +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0005093 DOID:2732 DOID:37 skin disorder +MONDO:0010008 sarcosinemia MONDO:0004736 DOID:0112307 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0010024 Beemer-Langer syndrome MONDO:0002254 DOID:9249 DOID:225 syndromic disease +MONDO:0010028 sialuria MONDO:0002561 DOID:3659 DOID:3211 lysosomal storage disease +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0002254 DOID:14501 DOID:225 syndromic disease +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0002525 DOID:14692 DOID:3146 inherited lipid metabolism disorder +MONDO:0010036 congenital secretory sodium diarrhea 3 MONDO:0000249 DOID:0060781 DOID:0050129 secretory diarrhea +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0000426 DOID:0110770 DOID:0050736 autosomal dominant disease +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0019064 DOID:0110770 DOID:2476 hereditary spastic paraplegia +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0019064 DOID:0110768 DOID:2476 hereditary spastic paraplegia +MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0019064 DOID:0110774 DOID:2476 hereditary spastic paraplegia +MONDO:0010056 spinal muscular atrophy, type IV MONDO:0001516 DOID:0050529 DOID:12377 spinal muscular atrophy +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0006025 DOID:0080126 DOID:0050737 autosomal recessive disease +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0018158 DOID:0080126 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0015244 DOID:0111612 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0010078 spondyloperipheral dysplasia MONDO:0005516 DOID:0112195 DOID:2256 osteochondrodysplasia +MONDO:0010089 isolated sulfite oxidase deficiency MONDO:0019052 DOID:0111270 DOID:655 inborn errors of metabolism +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency MONDO:0019254 DOID:14218 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0010138 thyrotoxicosis MONDO:0003240 DOID:7997 DOID:50 thyroid gland disorder +MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO:0018612 DOID:0070123 DOID:0050328 congenital hypothyroidism +MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO:0018612 DOID:0070126 DOID:0050328 congenital hypothyroidism +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0002254 DOID:0111271 DOID:225 syndromic disease +MONDO:0010156 Troyer syndrome MONDO:0019064 DOID:0050886 DOID:2476 hereditary spastic paraplegia +MONDO:0010160 tyrosinemia type II MONDO:0005093 DOID:0050725 DOID:37 skin disorder +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0018772 DOID:0060376 DOID:0050777 Joubert syndrome +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:0002012 DOID:0050717 DOID:14749 methylmalonic acidemia +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0002012 DOID:0050715 DOID:14749 methylmalonic acidemia +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:0002012 DOID:0050716 DOID:14749 methylmalonic acidemia +MONDO:0010186 vitamin D-dependent rickets, type 2A MONDO:0024299 DOID:0080884 DOID:0080883 vitamin D-dependent rickets +MONDO:0010192 Waardenburg syndrome type 4A MONDO:0018094 DOID:0110953 DOID:9258 Waardenburg syndrome +MONDO:0010208 wrinkly skin syndrome MONDO:0006025 DOID:0112171 DOID:0050737 autosomal recessive disease +MONDO:0010221 CHIME syndrome MONDO:0002254 DOID:0112152 DOID:225 syndromic disease +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0018838 DOID:0112239 DOID:0050453 lissencephaly spectrum disorders +MONDO:0010241 congenital stationary night blindness 2A MONDO:0016293 DOID:0110871 DOID:0050534 congenital stationary night blindness +MONDO:0010245 X-linked cone-rod dystrophy 2 MONDO:0015993 DOID:0111006 DOID:0050572 cone-rod dystrophy +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0000004 DOID:0080156 DOID:10493 adrenocortical insufficiency +MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 MONDO:0002254 DOID:0080342 DOID:225 syndromic disease +MONDO:0010281 Danon disease MONDO:0002561 DOID:0050437 DOID:3211 lysosomal storage disease +MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0000762 DOID:0060799 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0019287 DOID:0081077 DOID:2121 ectodermal dysplasia syndrome +MONDO:0010296 immunodeficiency 61 MONDO:0002211 DOID:0111999 DOID:2115 B cell deficiency +MONDO:0010298 Lesch-Nyhan syndrome MONDO:0019254 DOID:1919 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0019052 DOID:0112127 DOID:655 inborn errors of metabolism +MONDO:0010302 Ito hypomelanosis MONDO:0005093 DOID:3156 DOID:37 skin disorder +MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0002933 DOID:0060886 DOID:4254 osteosclerosis +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0015974 DOID:0060013 DOID:627 severe combined immunodeficiency +MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO:0020119 DOID:0060806 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0010335 X-linked cone-rod dystrophy 3 MONDO:0015993 DOID:0111007 DOID:0050572 cone-rod dystrophy +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0000425 DOID:0112122 DOID:0050735 X-linked disease +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0005027 DOID:0112122 DOID:1826 epilepsy +MONDO:0010349 ovarian dysgenesis 2 MONDO:0005387 DOID:0080861 DOID:5426 primary ovarian failure +MONDO:0010350 premature ovarian failure 2A MONDO:0005387 DOID:0080858 DOID:5426 primary ovarian failure +MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0002254 DOID:0050631 DOID:225 syndromic disease +MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO:0005520 DOID:0080353 DOID:10609 rickets +MONDO:0010371 Aland island eye disease MONDO:0005328 DOID:0050630 DOID:5614 eye disorder +MONDO:0010373 premature ovarian failure 2B MONDO:0005387 DOID:0080859 DOID:5426 primary ovarian failure +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0005244 DOID:0111741 DOID:870 peripheral neuropathy +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0016537 DOID:0060706 DOID:0060704 lymphoproliferative syndrome +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0019052 DOID:0111260 DOID:655 inborn errors of metabolism +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MONDO:0005560 DOID:0111932 DOID:936 brain disorder +MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0000761 DOID:0060427 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0016830 DOID:0070251 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset MONDO:0005336 DOID:0080687 DOID:423 myopathy +MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0019064 DOID:0110785 DOID:2476 hereditary spastic paraplegia +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0015977 DOID:14179 DOID:2583 agammaglobulinemia +MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0000762 DOID:0060461 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect MONDO:0002305 DOID:0111899 DOID:2452 thrombophilia +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0002280 DOID:0112156 DOID:2355 anemia +MONDO:0010457 Ogden syndrome MONDO:0000425 DOID:0050781 DOID:0050735 X-linked disease +MONDO:0010457 Ogden syndrome MONDO:0002254 DOID:0050781 DOID:225 syndromic disease +MONDO:0010459 amyotrophic lateral sclerosis type 15 MONDO:0004976 DOID:0060206 DOID:332 amyotrophic lateral sclerosis +MONDO:0010481 angioedema MONDO:0005093 DOID:1558 DOID:37 skin disorder +MONDO:0010498 MEND syndrome MONDO:0002525 DOID:0111865 DOID:3146 inherited lipid metabolism disorder +MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis MONDO:0002254 DOID:0111859 DOID:225 syndromic disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0002254 DOID:9169 DOID:225 syndromic disease +MONDO:0010521 amelogenesis imperfecta type 1E MONDO:0019507 DOID:0110058 DOID:2187 amelogenesis imperfecta +MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0015194 DOID:0050554 DOID:8955 sideroblastic anemia +MONDO:0010542 dilated cardiomyopathy 3B MONDO:0005021 DOID:0110461 DOID:12930 dilated cardiomyopathy +MONDO:0010544 cataract 40 MONDO:0005129 DOID:0110272 DOID:83 cataract +MONDO:0010556 X-linked chondrodysplasia punctata MONDO:0019701 DOID:0060292 DOID:2581 chondrodysplasia punctata +MONDO:0010559 MASA syndrome MONDO:0019064 DOID:0060246 DOID:2476 hereditary spastic paraplegia +MONDO:0010561 Coffin-Lowry syndrome MONDO:0002254 DOID:3783 DOID:225 syndromic disease +MONDO:0010564 red-green color blindness MONDO:0001703 DOID:13909 DOID:13399 color vision disorder +MONDO:0010566 X-linked cone-rod dystrophy 1 MONDO:0015993 DOID:0111008 DOID:0050572 cone-rod dystrophy +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0018233 DOID:0111784 DOID:0111782 otopalatodigital syndrome spectrum disorder +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0007179 DOID:0090110 DOID:417 autoimmune disease +MONDO:0010584 dyskeratosis congenita, X-linked MONDO:0015780 DOID:0070025 DOID:2729 dyskeratosis congenita +MONDO:0010592 focal dermal hypoplasia MONDO:0002254 DOID:2120 DOID:225 syndromic disease +MONDO:0010598 glycogen storage disease IXa1 MONDO:0002412 DOID:2751 DOID:2747 disorder of glycogen metabolism +MONDO:0010602 hemophilia A MONDO:0001531 DOID:12134 DOID:1247 blood coagulation disease +MONDO:0010604 hemophilia B MONDO:0001531 DOID:12259 DOID:1247 blood coagulation disease +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland MONDO:0001220 DOID:0111388 DOID:11199 hypoparathyroidism +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0005520 DOID:0050445 DOID:10609 rickets +MONDO:0010621 CHILD syndrome MONDO:0002254 DOID:0111822 DOID:225 syndromic disease +MONDO:0010622 recessive X-linked ichthyosis MONDO:0019269 DOID:1700 DOID:1697 ichthyosis +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO:0018555 DOID:0090094 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0010650 Melnick-Needles syndrome MONDO:0000425 DOID:0111788 DOID:0050735 X-linked disease +MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:0020119 DOID:0080985 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0002012 DOID:0111814 DOID:14749 methylmalonic acidemia +MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 MONDO:0020119 DOID:0080982 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0010669 syndactyly type 8 MONDO:0021002 DOID:0111813 DOID:11193 syndactyly +MONDO:0010671 microphthalmia, syndromic 1 MONDO:0000425 DOID:0111799 DOID:0050735 X-linked disease +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0002254 DOID:0111875 DOID:225 syndromic disease +MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:0005336 DOID:0050760 DOID:423 myopathy +MONDO:0010686 N syndrome MONDO:0002254 DOID:0050769 DOID:225 syndromic disease +MONDO:0010690 congenital stationary night blindness 1A MONDO:0016293 DOID:0110870 DOID:0050534 congenital stationary night blindness +MONDO:0010698 optic atrophy 2 MONDO:0003608 DOID:0111443 DOID:5723 optic atrophy +MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0004739 DOID:9271 DOID:9267 urea cycle disorder +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0018233 DOID:0111783 DOID:0111782 otopalatodigital syndrome spectrum disorder +MONDO:0010706 premature ovarian failure 1 MONDO:0005387 DOID:0080857 DOID:5426 primary ovarian failure +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0002254 DOID:0111781 DOID:225 syndromic disease +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0005570 DOID:0111767 DOID:74 hematologic disorder +MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:0002869 DOID:0111765 DOID:4079 heart valve disorder +MONDO:0010763 spermatogenic failure, Y-linked, 1 MONDO:0000761 DOID:0070186 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0010771 histiocytoid cardiomyopathy MONDO:0000591 DOID:0080198 DOID:0060036 intrinsic cardiomyopathy +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0002135 DOID:705 DOID:1891 optic nerve disorder +MONDO:0010794 NARP syndrome MONDO:0004069 DOID:0111273 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B MONDO:0024299 DOID:0080887 DOID:0080883 vitamin D-dependent rickets +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0016295 DOID:0110723 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0010841 Waardenburg syndrome type 2B MONDO:0018094 DOID:0110947 DOID:9258 Waardenburg syndrome +MONDO:0010847 spinocerebellar ataxia type 4 MONDO:0020380 DOID:0050957 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0010848 spinocerebellar ataxia type 5 MONDO:0020380 DOID:0050882 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0010857 semantic dementia MONDO:0019806 DOID:0081391 DOID:0081388 primary progressive aphasia +MONDO:0010868 rippling muscle disease 1 MONDO:0003939 DOID:0070308 DOID:66 muscle tissue disorder +MONDO:0010870 tibial muscular dystrophy MONDO:0000426 DOID:0111078 DOID:0050736 autosomal dominant disease +MONDO:0010870 tibial muscular dystrophy MONDO:0018949 DOID:0111078 DOID:11720 distal myopathy +MONDO:0010886 2q37 microdeletion syndrome MONDO:0000761 DOID:0111704 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0010888 adenomyosis MONDO:0002654 DOID:288 DOID:345 uterine disorder +MONDO:0010906 orofacial cleft 11 MONDO:0000358 DOID:0080404 DOID:0050567 orofacial cleft +MONDO:0010907 familial hypertryptophanemia MONDO:0004736 DOID:0111703 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0010913 Caroli disease MONDO:0002887 DOID:0050876 DOID:4138 bile duct disorder +MONDO:0010927 orofacial cleft 3 MONDO:0000358 DOID:0080397 DOID:0050567 orofacial cleft +MONDO:0010931 vitamin D-dependent rickets, type 2B MONDO:0024299 DOID:0080885 DOID:0080883 vitamin D-dependent rickets +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0004976 DOID:0111227 DOID:332 amyotrophic lateral sclerosis +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0017276 DOID:0111227 DOID:9255 frontotemporal dementia +MONDO:0010948 cataract 10 multiple types MONDO:0005129 DOID:0110258 DOID:83 cataract +MONDO:0010951 dilated cardiomyopathy 1B MONDO:0005021 DOID:0110443 DOID:12930 dilated cardiomyopathy +MONDO:0010958 cardiac arrhythmia, ankyrin-B-related MONDO:0002442 DOID:0111701 DOID:2843 long QT syndrome +MONDO:0010958 cardiac arrhythmia, ankyrin-B-related MONDO:0005267 DOID:0111700 DOID:114 heart disorder +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0006590 DOID:0050428 DOID:3390 palmoplantar keratosis +MONDO:0010974 nephrotic syndrome, type 2 MONDO:0002350 DOID:0080379 DOID:2590 familial nephrotic syndrome +MONDO:0010979 Timothy syndrome MONDO:0002254 DOID:0060173 DOID:225 syndromic disease +MONDO:0010983 dystonia 9 MONDO:0003441 DOID:0090044 DOID:543 dystonic disorder +MONDO:0011003 dilated cardiomyopathy 1E MONDO:0005021 DOID:0110433 DOID:12930 dilated cardiomyopathy +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0000426 DOID:0110824 DOID:0050736 autosomal dominant disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0019064 DOID:0110824 DOID:2476 hereditary spastic paraplegia +MONDO:0011015 cataract 24 MONDO:0005129 DOID:0110257 DOID:83 cataract +MONDO:0011022 Potocki-Shaffer syndrome MONDO:0000761 DOID:0111687 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011025 Cayman type cerebellar ataxia MONDO:0015244 DOID:0060694 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0000426 DOID:0111683 DOID:0050736 autosomal dominant disease +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:0002254 DOID:0081441 DOID:225 syndromic disease +MONDO:0011057 cerebrovascular disorder MONDO:0005385 DOID:6713 DOID:178 vascular disorder +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0015974 DOID:0090013 DOID:627 severe combined immunodeficiency +MONDO:0011088 congenital myasthenic syndrome 1A MONDO:0018940 DOID:0110663 DOID:3635 congenital myasthenic syndrome +MONDO:0011101 peroxisome biogenesis disorder 1B MONDO:0006025 DOID:0081240 DOID:0050737 autosomal recessive disease +MONDO:0011101 peroxisome biogenesis disorder 1B MONDO:0019234 DOID:0081240 DOID:0080377 peroxisome biogenesis disorder +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0016295 DOID:0110729 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0011147 chromosome 18q deletion syndrome MONDO:0000761 DOID:0060407 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011151 exudative vitreoretinopathy 4 MONDO:0019516 DOID:0111411 DOID:0050535 exudative vitreoretinopathy +MONDO:0011152 PHGDH deficiency MONDO:0000421 DOID:0050722 DOID:0050721 inborn serine deficiency +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 MONDO:0005803 DOID:0070218 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0011162 cataract 14 multiple types MONDO:0005129 DOID:0110253 DOID:83 cataract +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0018100 DOID:0060883 DOID:0060879 familial primary hypomagnesemia +MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 MONDO:0016587 DOID:0110072 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 MONDO:0016587 DOID:0110073 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011194 Alzheimer disease 5 MONDO:0000426 DOID:0110037 DOID:0050736 autosomal dominant disease +MONDO:0011194 Alzheimer disease 5 MONDO:0004975 DOID:0110037 DOID:10652 Alzheimer disease +MONDO:0011196 amyotrophic lateral sclerosis type 5 MONDO:0004976 DOID:0060197 DOID:332 amyotrophic lateral sclerosis +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0004976 DOID:0060196 DOID:332 amyotrophic lateral sclerosis +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0015974 DOID:0090012 DOID:627 severe combined immunodeficiency +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine MONDO:0003900 DOID:0060887 DOID:65 connective tissue disorder +MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0005803 DOID:0070216 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0011242 Bartter disease type 4A MONDO:0015231 DOID:0110145 DOID:445 Bartter syndrome +MONDO:0011249 torsion dystonia with onset in infancy MONDO:0000476 DOID:0090058 DOID:0050835 generalized dystonia +MONDO:0011271 rigid spine muscular dystrophy 1 MONDO:0019950 DOID:0110633 DOID:0050557 congenital muscular dystrophy +MONDO:0011274 Muenke syndrome MONDO:0015469 DOID:0060703 DOID:2340 craniosynostosis +MONDO:0011303 focal segmental glomerulosclerosis 1 MONDO:0100313 DOID:0111128 DOID:1312 focal segmental glomerulosclerosis +MONDO:0011304 cerebral cavernous malformation 2 MONDO:0000820 DOID:0060670 DOID:0060669 cerebral cavernous malformation +MONDO:0011305 cerebral cavernous malformation 3 MONDO:0000820 DOID:0060671 DOID:0060669 cerebral cavernous malformation +MONDO:0011326 citrullinemia, type II, adult-onset MONDO:0015991 DOID:0070342 DOID:9273 citrullinemia +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0005559 DOID:0081294 DOID:1289 neurodegenerative disease +MONDO:0011330 spinocerebellar ataxia type 10 MONDO:0020380 DOID:0050960 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 MONDO:0015540 DOID:0110924 DOID:0050120 hemophagocytic syndrome +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 MONDO:0015540 DOID:0110922 DOID:0050120 hemophagocytic syndrome +MONDO:0011338 Omenn syndrome MONDO:0015974 DOID:0060010 DOID:627 severe combined immunodeficiency +MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0019064 DOID:0110823 DOID:2476 hereditary spastic paraplegia +MONDO:0011359 acromelic frontonasal dysostosis MONDO:0018234 DOID:0060342 DOID:1934 dysostosis +MONDO:0011377 long QT syndrome 3 MONDO:0002442 DOID:0110646 DOID:2843 long QT syndrome +MONDO:0011390 focal segmental glomerulosclerosis 2 MONDO:0100313 DOID:0111129 DOID:1312 focal segmental glomerulosclerosis +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0020380 DOID:0050968 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011400 dilated cardiomyopathy 1G MONDO:0005021 DOID:0110430 DOID:12930 dilated cardiomyopathy +MONDO:0011401 Alzheimer disease without neurofibrillary tangles MONDO:0004975 DOID:0110048 DOID:10652 Alzheimer disease +MONDO:0011405 poikiloderma with neutropenia MONDO:0005093 DOID:0060551 DOID:37 skin disorder +MONDO:0011425 dilated cardiomyopathy 1H MONDO:0005021 DOID:0110429 DOID:12930 dilated cardiomyopathy +MONDO:0011426 aceruloplasminemia MONDO:0002279 DOID:0050711 DOID:2351 iron metabolism disease +MONDO:0011426 aceruloplasminemia MONDO:0019052 DOID:0050711 DOID:655 inborn errors of metabolism +MONDO:0011439 spinocerebellar ataxia type 12 MONDO:0020380 DOID:0050962 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0019064 DOID:0110764 DOID:2476 hereditary spastic paraplegia +MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 MONDO:0016587 DOID:0110074 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 MONDO:0016587 DOID:0110075 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0002254 DOID:0080519 DOID:225 syndromic disease +MONDO:0011464 spinocerebellar ataxia type 11 MONDO:0020380 DOID:0050961 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011482 dilated cardiomyopathy 1I MONDO:0005021 DOID:0110431 DOID:12930 dilated cardiomyopathy +MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0019064 DOID:0110765 DOID:2476 hereditary spastic paraplegia +MONDO:0011514 tricuspid atresia MONDO:0000471 DOID:0080169 DOID:0050826 tricuspid valve disorder +MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0020380 DOID:0050963 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011536 optic atrophy 4 MONDO:0003608 DOID:0111440 DOID:5723 optic atrophy +MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0020380 DOID:0050964 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011541 dilated cardiomyopathy 1J MONDO:0005021 DOID:0110440 DOID:12930 dilated cardiomyopathy +MONDO:0011547 cataract 31 multiple types MONDO:0005129 DOID:0110265 DOID:83 cataract +MONDO:0011561 Alzheimer disease 6 MONDO:0004975 DOID:0110038 DOID:10652 Alzheimer disease +MONDO:0011567 dilated cardiomyopathy 1K MONDO:0005021 DOID:0110437 DOID:12930 dilated cardiomyopathy +MONDO:0011579 late-onset retinal degeneration MONDO:0004580 DOID:0060869 DOID:8466 retinal degeneration +MONDO:0011587 cataract 25 MONDO:0005129 DOID:0110254 DOID:83 cataract +MONDO:0011591 cataract 26 multiple types MONDO:0005129 DOID:0110246 DOID:83 cataract +MONDO:0011600 congenital myasthenic syndrome 4A MONDO:0018940 DOID:0110678 DOID:3635 congenital myasthenic syndrome +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0015991 DOID:0070341 DOID:9273 citrullinemia +MONDO:0011603 GNE myopathy MONDO:0005336 DOID:0080718 DOID:423 myopathy +MONDO:0011612 glycine encephalopathy MONDO:0004736 DOID:9268 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0011628 propionic acidemia MONDO:0000688 DOID:14701 DOID:0060159 inborn organic aciduria +MONDO:0011632 amyotrophic lateral sclerosis type 21 MONDO:0004976 DOID:0060212 DOID:332 amyotrophic lateral sclerosis +MONDO:0011647 Alzheimer disease 7 MONDO:0004975 DOID:0110039 DOID:10652 Alzheimer disease +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0000761 DOID:0060858 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011671 Huntington disease-like 2 MONDO:0005559 DOID:0090104 DOID:1289 neurodegenerative disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0000426 DOID:0110197 DOID:0050736 autosomal dominant disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0018778 DOID:0110197 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0000426 DOID:0110202 DOID:0050736 autosomal dominant disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0018778 DOID:0110202 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0011680 autosomal recessive congenital ichthyosis 3 MONDO:0017265 DOID:0060711 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0011686 DNA ligase IV deficiency MONDO:0015131 DOID:0060021 DOID:628 combined immunodeficiency +MONDO:0011691 amyotrophic lateral sclerosis type 3 MONDO:0004976 DOID:0060195 DOID:332 amyotrophic lateral sclerosis +MONDO:0011694 spinocerebellar ataxia type 15/16 MONDO:0020380 DOID:0050965 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011697 Waardenburg syndrome type 2C MONDO:0018094 DOID:0110951 DOID:9258 Waardenburg syndrome +MONDO:0011702 dilated cardiomyopathy 1L MONDO:0005021 DOID:0110436 DOID:12930 dilated cardiomyopathy +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0017279 DOID:0060556 DOID:0060894 young-onset Parkinson disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0005803 DOID:0070217 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0000087 DOID:0080922 DOID:0080918 polymicrogyria +MONDO:0011740 Carney-Stratakis syndrome MONDO:0002254 DOID:0080533 DOID:225 syndromic disease +MONDO:0011743 Alzheimer disease 4 MONDO:0000426 DOID:0110040 DOID:0050736 autosomal dominant disease +MONDO:0011743 Alzheimer disease 4 MONDO:0004975 DOID:0110040 DOID:10652 Alzheimer disease +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018910 DOID:0070095 DOID:0050632 oculocutaneous albinism +MONDO:0011777 Alzheimer disease 8 MONDO:0004975 DOID:0110041 DOID:10652 Alzheimer disease +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0020380 DOID:0050967 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0019064 DOID:0110772 DOID:2476 hereditary spastic paraplegia +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0015244 DOID:0090115 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0011808 cataract 27 MONDO:0005129 DOID:0110233 DOID:83 cataract +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0015244 DOID:0111611 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0020380 DOID:0050970 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011830 lissencephaly due to LIS1 mutation MONDO:0018838 DOID:0112237 DOID:0050453 lissencephaly spectrum disorders +MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 MONDO:0016587 DOID:0110076 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0020380 DOID:0050972 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011834 spinocerebellar ataxia type 18 MONDO:0020380 DOID:0050969 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0004069 DOID:0111276 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0011838 Bothnia retinal dystrophy MONDO:0019118 DOID:0050683 DOID:8501 inherited retinal dystrophy +MONDO:0011840 dilated cardiomyopathy 1M MONDO:0005021 DOID:0110449 DOID:12930 dilated cardiomyopathy +MONDO:0011849 psoriatic arthritis MONDO:0005578 DOID:9008 DOID:848 arthritic joint disease +MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0019064 DOID:0110775 DOID:2476 hereditary spastic paraplegia +MONDO:0011866 pontocerebellar hypoplasia type 1A MONDO:0006025 DOID:0060265 DOID:0050737 autosomal recessive disease +MONDO:0011871 Niemann-Pick disease type B MONDO:0001982 DOID:0070112 DOID:14504 Niemann-Pick disease +MONDO:0011873 Niemann-Pick disease, type C2 MONDO:0001982 DOID:0070114 DOID:14504 Niemann-Pick disease +MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:0000426 DOID:0110937 DOID:0050736 autosomal dominant disease +MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:0017198 DOID:0110937 DOID:13533 osteopetrosis +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B MONDO:0015362 DOID:0111202 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0011886 torsion dystonia 13 MONDO:0003441 DOID:0090037 DOID:543 dystonic disorder +MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0000426 DOID:0110158 DOID:0050736 autosomal dominant disease +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 DOID:0060794 DOID:0060786 leukodystrophy +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0021060 DOID:0080691 DOID:0080690 RASopathy +MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0000426 DOID:0110157 DOID:0050736 autosomal dominant disease +MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0006311 DOID:0050458 DOID:4972 myelodysplastic/myeloproliferative neoplasm +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0000426 DOID:0110200 DOID:0050736 autosomal dominant disease +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0018778 DOID:0110200 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0011913 Alzheimer disease 3 MONDO:0000426 DOID:0110042 DOID:0050736 autosomal dominant disease +MONDO:0011913 Alzheimer disease 3 MONDO:0004975 DOID:0110042 DOID:10652 Alzheimer disease +MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome MONDO:0002254 DOID:0111361 DOID:225 syndromic disease +MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0000761 DOID:0060410 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0004976 DOID:0060198 DOID:332 amyotrophic lateral sclerosis +MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0004976 DOID:0060199 DOID:332 amyotrophic lateral sclerosis +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015364 DOID:0070148 DOID:0050548 hereditary sensory and autonomic neuropathy +MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0015131 DOID:0112064 DOID:0111962 combined immunodeficiency +MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0019064 DOID:0110776 DOID:2476 hereditary spastic paraplegia +MONDO:0012004 parathyroid gland carcinoma MONDO:0001223 DOID:1540 DOID:11201 parathyroid gland disorder +MONDO:0012004 parathyroid gland carcinoma MONDO:0004993 DOID:1540 DOID:305 carcinoma +MONDO:0012004 parathyroid gland carcinoma MONDO:0021069 DOID:1540 DOID:170 malignant endocrine neoplasm +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0000426 DOID:0110199 DOID:0050736 autosomal dominant disease +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0018778 DOID:0110199 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0006025 DOID:0110201 DOID:0050737 autosomal recessive disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0018778 DOID:0110201 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0012020 chromosome 22q11.2 microduplication syndrome MONDO:0000762 DOID:0060436 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012029 microcephaly 6, primary, autosomal recessive MONDO:0016660 DOID:0070290 DOID:0070296 autosomal recessive primary microcephaly +MONDO:0012062 dilated cardiomyopathy 1O MONDO:0005021 DOID:0110451 DOID:12930 dilated cardiomyopathy +MONDO:0012077 amyotrophic lateral sclerosis type 8 MONDO:0004976 DOID:0050752 DOID:332 amyotrophic lateral sclerosis +MONDO:0012080 neuronopathy, distal hereditary motor, type 2B MONDO:0015362 DOID:0111207 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0019052 DOID:0090123 DOID:655 inborn errors of metabolism +MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive MONDO:0000359 DOID:0112362 DOID:0050568 spondylocostal dysostosis +MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive MONDO:0006025 DOID:0112362 DOID:0050737 autosomal recessive disease +MONDO:0012098 spinocerebellar ataxia type 20 MONDO:0020380 DOID:0050971 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012103 spinocerebellar ataxia type 25 MONDO:0020380 DOID:0050974 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012105 granulomatosis with polyangiitis MONDO:0005240 DOID:12132 DOID:557 kidney disorder +MONDO:0012116 spinocerebellar ataxia type 8 MONDO:0020380 DOID:0050959 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:0019046 DOID:0060787 DOID:0060786 leukodystrophy +MONDO:0012130 myofibrillar myopathy 2 MONDO:0000426 DOID:0080093 DOID:0050736 autosomal dominant disease +MONDO:0012142 orofacial cleft 5 MONDO:0000358 DOID:0080399 DOID:0050567 orofacial cleft +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 MONDO:0015540 DOID:0110923 DOID:0050120 hemophagocytic syndrome +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel MONDO:0018940 DOID:0110662 DOID:3635 congenital myasthenic syndrome +MONDO:0012157 congenital myasthenic syndrome 4C MONDO:0018940 DOID:0110679 DOID:3635 congenital myasthenic syndrome +MONDO:0012163 immunodeficiency 104 MONDO:0015974 DOID:0090014 DOID:627 severe combined immunodeficiency +MONDO:0012169 premature ovarian failure 3 MONDO:0005387 DOID:0080860 DOID:5426 primary ovarian failure +MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 MONDO:0016587 DOID:0110077 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0019064 DOID:0110778 DOID:2476 hereditary spastic paraplegia +MONDO:0012184 Pierson syndrome MONDO:0002254 DOID:0060852 DOID:225 syndromic disease +MONDO:0012188 neuronal ceroid lipofuscinosis 9 MONDO:0016295 DOID:0110733 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0019064 DOID:0110777 DOID:2476 hereditary spastic paraplegia +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000426 DOID:0080094 DOID:0050736 autosomal dominant disease +MONDO:0012237 nemaline myopathy 6 MONDO:0018958 DOID:0110935 DOID:3191 nemaline myopathy +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0000426 DOID:0111517 DOID:0050736 autosomal dominant disease +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0005181 DOID:0111517 DOID:12558 progressive external ophthalmoplegia +MONDO:0012239 congenital myopathy 4B, autosomal recessive MONDO:0018958 DOID:0110926 DOID:3191 nemaline myopathy +MONDO:0012240 congenital myopathy 23 MONDO:0018958 DOID:0110932 DOID:3191 nemaline myopathy +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0000426 DOID:0111520 DOID:0050736 autosomal dominant disease +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0005181 DOID:0111520 DOID:12558 progressive external ophthalmoplegia +MONDO:0012246 spinocerebellar ataxia type 26 MONDO:0020380 DOID:0050975 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012247 spinocerebellar ataxia type 27 MONDO:0020380 DOID:0050976 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0019064 DOID:0110779 DOID:2476 hereditary spastic paraplegia +MONDO:0012260 cataract 35 MONDO:0005129 DOID:0110261 DOID:83 cataract +MONDO:0012269 chromosome 3q29 microdeletion syndrome MONDO:0000761 DOID:0060419 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012277 myofibrillar myopathy 4 MONDO:0000426 DOID:0080095 DOID:0050736 autosomal dominant disease +MONDO:0012295 complement component 5 deficiency MONDO:0003832 DOID:8158 DOID:626 complement deficiency +MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy MONDO:0005559 DOID:0060491 DOID:1289 neurodegenerative disease +MONDO:0012306 cardiomyopathy, familial restrictive, 2 MONDO:0005201 DOID:0111426 DOID:397 restrictive cardiomyopathy +MONDO:0012315 distal 10q deletion syndrome MONDO:0000761 DOID:0060390 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012321 Alzheimer disease 10 MONDO:0004975 DOID:0110043 DOID:10652 Alzheimer disease +MONDO:0012322 holoprosencephaly 5 MONDO:0016296 DOID:0110878 DOID:4621 holoprosencephaly +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0000426 DOID:0110780 DOID:0050736 autosomal dominant disease +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0019064 DOID:0110780 DOID:2476 hereditary spastic paraplegia +MONDO:0012336 cataract 22 multiple types MONDO:0005129 DOID:0110268 DOID:83 cataract +MONDO:0012342 7q11.23 microduplication syndrome MONDO:0000762 DOID:0080926 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012344 Alzheimer disease 11 MONDO:0004975 DOID:0110044 DOID:10652 Alzheimer disease +MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive MONDO:0000359 DOID:0112361 DOID:0050568 spondylocostal dysostosis +MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive MONDO:0006025 DOID:0112361 DOID:0050737 autosomal recessive disease +MONDO:0012351 zygodactyly type 1 MONDO:0021002 DOID:0111820 DOID:11193 syndactyly +MONDO:0012360 congenital nongoitrous hypothyroidism 3 MONDO:0018612 DOID:0070127 DOID:0050328 congenital hypothyroidism +MONDO:0012362 dilated cardiomyopathy 1P MONDO:0005021 DOID:0110439 DOID:12930 dilated cardiomyopathy +MONDO:0012364 dilated cardiomyopathy 1Q MONDO:0005021 DOID:0110442 DOID:12930 dilated cardiomyopathy +MONDO:0012381 hyperinsulinism due to INSR deficiency MONDO:0005803 DOID:0070220 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0005803 DOID:0070215 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0016295 DOID:0110724 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0012396 exercise-induced hyperinsulinism MONDO:0005803 DOID:0070214 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0005528 DOID:0111329 DOID:0050718 inborn vitamin metabolic disorder +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0000426 DOID:0111189 DOID:0050736 autosomal dominant disease +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0018949 DOID:0111189 DOID:11720 distal myopathy +MONDO:0012411 giant axonal neuropathy 2 MONDO:0004183 DOID:0090069 DOID:7319 axonal neuropathy +MONDO:0012412 complement component 7 deficiency MONDO:0003832 DOID:0060300 DOID:626 complement deficiency +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0016295 DOID:0110725 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0000426 DOID:0111525 DOID:0050736 autosomal dominant disease +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0005181 DOID:0111525 DOID:12558 progressive external ophthalmoplegia +MONDO:0012426 immunodeficiency 25 MONDO:0015974 DOID:0060007 DOID:627 severe combined immunodeficiency +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 MONDO:0016587 DOID:0110081 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012437 cataract 21 multiple types MONDO:0005129 DOID:0110256 DOID:83 cataract +MONDO:0012444 neurodegeneration with brain iron accumulation 2B MONDO:0018307 DOID:0110736 DOID:0110734 neurodegeneration with brain iron accumulation +MONDO:0012449 spinocerebellar ataxia type 23 MONDO:0020380 DOID:0050973 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0020380 DOID:0050977 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012489 cataract 23 MONDO:0005129 DOID:0110271 DOID:83 cataract +MONDO:0012502 normophosphatemic familial tumoral calcinosis MONDO:0002123 DOID:0080170 DOID:182 calcinosis +MONDO:0012503 thiopurine S-methyltransferase deficiency MONDO:0019052 DOID:0080172 DOID:655 inborn errors of metabolism +MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 MONDO:0016587 DOID:0110082 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012518 congenital myasthenic syndrome 12 MONDO:0018940 DOID:0110660 DOID:3635 congenital myasthenic syndrome +MONDO:0012527 cataract 11 multiple types MONDO:0005129 DOID:0110249 DOID:83 cataract +MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia MONDO:0018555 DOID:0090077 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0012536 osteogenesis imperfecta type 7 MONDO:0019019 DOID:0110337 DOID:12347 osteogenesis imperfecta +MONDO:0012538 nemaline myopathy 7 MONDO:0018958 DOID:0110934 DOID:3191 nemaline myopathy +MONDO:0012543 optic atrophy 5 MONDO:0000426 DOID:0111438 DOID:0050736 autosomal dominant disease +MONDO:0012543 optic atrophy 5 MONDO:0003608 DOID:0111438 DOID:5723 optic atrophy +MONDO:0012546 nephrotic syndrome, type 3 MONDO:0002350 DOID:0080382 DOID:2590 familial nephrotic syndrome +MONDO:0012548 Kostmann syndrome MONDO:0006025 DOID:0112133 DOID:0050737 autosomal recessive disease +MONDO:0012548 Kostmann syndrome MONDO:0018542 DOID:0112133 DOID:0050590 severe congenital neutropenia +MONDO:0012563 holoprosencephaly 9 MONDO:0016296 DOID:0110873 DOID:4621 holoprosencephaly +MONDO:0012574 Potocki-Lupski syndrome MONDO:0000762 DOID:0060853 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012581 osteogenesis imperfecta type 8 MONDO:0019019 DOID:0110336 DOID:12347 osteogenesis imperfecta +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 DOID:0110344 DOID:12347 osteogenesis imperfecta +MONDO:0012592 osteogenesis imperfecta type 11 MONDO:0019019 DOID:0110351 DOID:12347 osteogenesis imperfecta +MONDO:0012596 PSAT deficiency MONDO:0000421 DOID:0050723 DOID:0050721 inborn serine deficiency +MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0003441 DOID:0090054 DOID:543 dystonic disorder +MONDO:0012609 Alzheimer disease 12 MONDO:0004975 DOID:0110045 DOID:10652 Alzheimer disease +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 MONDO:0003441 DOID:0090047 DOID:543 dystonic disorder +MONDO:0012630 Alzheimer disease 13 MONDO:0004975 DOID:0110046 DOID:10652 Alzheimer disease +MONDO:0012631 Alzheimer disease 14 MONDO:0004975 DOID:0110047 DOID:10652 Alzheimer disease +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0019064 DOID:0110771 DOID:2476 hereditary spastic paraplegia +MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0019064 DOID:0110783 DOID:2476 hereditary spastic paraplegia +MONDO:0012658 brachydactyly type B2 MONDO:0021004 DOID:0110975 DOID:0050581 brachydactyly +MONDO:0012664 spastic ataxia 3 MONDO:0006025 DOID:0050942 DOID:0050737 autosomal recessive disease +MONDO:0012664 spastic ataxia 3 MONDO:0017845 DOID:0050942 DOID:0050952 spastic ataxia +MONDO:0012665 cataract 33 MONDO:0005129 DOID:0110264 DOID:83 cataract +MONDO:0012667 dilated cardiomyopathy 1W MONDO:0005021 DOID:0110446 DOID:12930 dilated cardiomyopathy +MONDO:0012669 Legius syndrome MONDO:0021060 DOID:0070484 DOID:0080690 RASopathy +MONDO:0012672 cholelithiasis MONDO:0005281 DOID:10211 DOID:0060262 gallbladder disorder +MONDO:0012676 autosomal recessive osteopetrosis 4 MONDO:0006025 DOID:0110944 DOID:0050737 autosomal recessive disease +MONDO:0012676 autosomal recessive osteopetrosis 4 MONDO:0017198 DOID:0110944 DOID:13533 osteopetrosis +MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:0006025 DOID:0110945 DOID:0050737 autosomal recessive disease +MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:0017198 DOID:0110945 DOID:13533 osteopetrosis +MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 MONDO:0016587 DOID:0110083 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012688 cataract 17 multiple types MONDO:0005129 DOID:0110270 DOID:83 cataract +MONDO:0012689 premature ovarian failure 5 MONDO:0005387 DOID:0080862 DOID:5426 primary ovarian failure +MONDO:0012698 Waardenburg syndrome type 2E MONDO:0018094 DOID:0110956 DOID:9258 Waardenburg syndrome +MONDO:0012704 dilated cardiomyopathy 1X MONDO:0005021 DOID:0110444 DOID:12930 dilated cardiomyopathy +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0006025 DOID:0081341 DOID:0050737 autosomal recessive disease +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0019952 DOID:0081341 DOID:0081337 congenital myopathy +MONDO:0012717 renal hypomagnesemia 4 MONDO:0018100 DOID:0060882 DOID:0060879 familial primary hypomagnesemia +MONDO:0012719 combined PSAP deficiency MONDO:0019255 DOID:0111330 DOID:1927 sphingolipidosis +MONDO:0012736 long QT syndrome 9 MONDO:0002442 DOID:0110650 DOID:2843 long QT syndrome +MONDO:0012737 long QT syndrome 10 MONDO:0002442 DOID:0110651 DOID:2843 long QT syndrome +MONDO:0012738 long QT syndrome 11 MONDO:0002442 DOID:0110652 DOID:2843 long QT syndrome +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal MONDO:0000761 DOID:0060413 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012745 dilated cardiomyopathy 1Z MONDO:0005021 DOID:0110434 DOID:12930 dilated cardiomyopathy +MONDO:0012746 dilated cardiomyopathy 2A MONDO:0005021 DOID:0110460 DOID:12930 dilated cardiomyopathy +MONDO:0012753 amyotrophic lateral sclerosis type 9 MONDO:0004976 DOID:0060200 DOID:332 amyotrophic lateral sclerosis +MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0000761 DOID:0070515 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012761 chromosome 3q29 microduplication syndrome MONDO:0000762 DOID:0060459 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012764 RIDDLE syndrome MONDO:0006025 DOID:0090113 DOID:0050737 autosomal recessive disease +MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0019064 DOID:0110788 DOID:2476 hereditary spastic paraplegia +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0000761 DOID:0060394 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0019064 DOID:0110790 DOID:2476 hereditary spastic paraplegia +MONDO:0012790 amyotrophic lateral sclerosis type 10 MONDO:0004976 DOID:0060201 DOID:332 amyotrophic lateral sclerosis +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0018158 DOID:0080124 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0018158 DOID:0070331 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0018158 DOID:0080127 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0012796 retinitis pigmentosa 41 MONDO:0006025 DOID:0110376 DOID:0050737 autosomal recessive disease +MONDO:0012802 oculoauricular syndrome MONDO:0002254 DOID:0060482 DOID:225 syndromic disease +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0003441 DOID:0090045 DOID:543 dystonic disorder +MONDO:0012808 dilated cardiomyopathy 1AA MONDO:0005021 DOID:0110428 DOID:12930 dilated cardiomyopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:0019046 DOID:0060789 DOID:0060786 leukodystrophy +MONDO:0012830 chromosome 10q23 deletion syndrome MONDO:0000761 DOID:0060389 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0002254 DOID:0111161 DOID:225 syndromic disease +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0005381 DOID:0111161 DOID:0080001 bone disorder +MONDO:0012847 autosomal recessive congenital ichthyosis 6 MONDO:0017265 DOID:0060715 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0006025 DOID:0110946 DOID:0050737 autosomal recessive disease +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0017198 DOID:0110946 DOID:13533 osteopetrosis +MONDO:0012861 premature ovarian failure 6 MONDO:0005387 DOID:0080863 DOID:5426 primary ovarian failure +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0000761 DOID:0060428 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0002254 DOID:0060428 DOID:225 syndromic disease +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0000426 DOID:0110789 DOID:0050736 autosomal dominant disease +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0019064 DOID:0110789 DOID:2476 hereditary spastic paraplegia +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0002304 DOID:0111900 DOID:2451 protein S deficiency +MONDO:0012870 chromosome 2q31.2 deletion syndrome MONDO:0000761 DOID:0060416 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0002305 DOID:0111906 DOID:2452 thrombophilia +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0020066 DOID:0080739 DOID:13359 Ehlers-Danlos syndrome +MONDO:0012876 heparin cofactor 2 deficiency MONDO:0002305 DOID:0111901 DOID:2452 thrombophilia +MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia MONDO:0018555 DOID:0090084 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0012895 torsion dystonia 17 MONDO:0003441 DOID:0090042 DOID:543 dystonic disorder +MONDO:0012897 congenital factor XI deficiency MONDO:0001531 DOID:2229 DOID:1247 blood coagulation disease +MONDO:0012900 cardiomyopathy, familial restrictive, 3 MONDO:0005201 DOID:0111427 DOID:397 restrictive cardiomyopathy +MONDO:0012908 complement component 6 deficiency MONDO:0003832 DOID:0060299 DOID:626 complement deficiency +MONDO:0012914 chromosome 1q21.1 deletion syndrome MONDO:0000761 DOID:0060411 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012915 chromosome 1q21.1 duplication syndrome MONDO:0000762 DOID:0060435 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome MONDO:0000761 DOID:0060415 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 MONDO:0019507 DOID:0110060 DOID:2187 amelogenesis imperfecta +MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0000761 DOID:0060412 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0019064 DOID:0110794 DOID:2476 hereditary spastic paraplegia +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0006025 DOID:0112136 DOID:0050737 autosomal recessive disease +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0018542 DOID:0112136 DOID:0050590 severe congenital neutropenia +MONDO:0012941 inflammatory bowel disease 25 MONDO:0005265 DOID:0110909 DOID:0050589 inflammatory bowel disease +MONDO:0012945 amyotrophic lateral sclerosis type 11 MONDO:0004976 DOID:0060202 DOID:332 amyotrophic lateral sclerosis +MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0000761 DOID:0060422 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012964 chromosome 15q26-qter deletion syndrome MONDO:0000761 DOID:0060397 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012984 PHARC syndrome MONDO:0002254 DOID:0080181 DOID:225 syndromic disease +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria MONDO:0000087 DOID:0080923 DOID:0080918 polymicrogyria +MONDO:0012987 agammaglobulinemia 6, autosomal recessive MONDO:0015977 DOID:0081138 DOID:2583 agammaglobulinemia +MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia MONDO:0018555 DOID:0090086 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0003441 DOID:0111168 DOID:543 dystonic disorder +MONDO:0013017 hypotrichosis 5 MONDO:0003037 DOID:0110702 DOID:4535 hypotrichosis +MONDO:0013025 chromosome 6q24-q25 deletion syndrome MONDO:0000761 DOID:0060424 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013030 dilated cardiomyopathy 1BB MONDO:0005021 DOID:0110458 DOID:12930 dilated cardiomyopathy +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0006025 DOID:0070137 DOID:0050737 autosomal recessive disease +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0016175 DOID:0070137 DOID:3144 cutis laxa +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0100062 DOID:0080349 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0013062 long QT syndrome 12 MONDO:0002442 DOID:0110653 DOID:2843 long QT syndrome +MONDO:0013065 premature ovarian failure 7 MONDO:0005387 DOID:0080864 DOID:5426 primary ovarian failure +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0003608 DOID:0111437 DOID:5723 optic atrophy +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:0000426 DOID:0070249 DOID:0050736 autosomal dominant disease +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:0016830 DOID:0070249 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:0000426 DOID:0070250 DOID:0050736 autosomal dominant disease +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:0016830 DOID:0070250 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 MONDO:0004822 DOID:0080527 DOID:9563 bronchiectasis +MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0000761 DOID:0060408 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0005154 DOID:0080778 DOID:409 liver disorder +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 MONDO:0004822 DOID:0080528 DOID:9563 bronchiectasis +MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0000426 DOID:0111518 DOID:0050736 autosomal dominant disease +MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0005181 DOID:0111518 DOID:12558 progressive external ophthalmoplegia +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0000426 DOID:0110787 DOID:0050736 autosomal dominant disease +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0019064 DOID:0110787 DOID:2476 hereditary spastic paraplegia +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 MONDO:0015540 DOID:0110925 DOID:0050120 hemophagocytic syndrome +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0002305 DOID:0111903 DOID:2452 thrombophilia +MONDO:0013144 hereditary antithrombin deficiency MONDO:0002305 DOID:3755 DOID:2452 thrombophilia +MONDO:0013147 dilated cardiomyopathy 1CC MONDO:0005021 DOID:0110424 DOID:12930 dilated cardiomyopathy +MONDO:0013153 inflammatory bowel disease 28 MONDO:0005265 DOID:0110899 DOID:0050589 inflammatory bowel disease +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0019064 DOID:0110797 DOID:2476 hereditary spastic paraplegia +MONDO:0013168 dilated cardiomyopathy 1DD MONDO:0005021 DOID:0110447 DOID:12930 dilated cardiomyopathy +MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:0000762 DOID:0060460 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0019064 DOID:0110796 DOID:2476 hereditary spastic paraplegia +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 MONDO:0019507 DOID:0110061 DOID:2187 amelogenesis imperfecta +MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:0000762 DOID:0060432 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0000824 DOID:0060776 DOID:0060774 congenital diarrhea +MONDO:0013191 focal segmental glomerulosclerosis 5 MONDO:0100313 DOID:0111130 DOID:1312 focal segmental glomerulosclerosis +MONDO:0013198 dilated cardiomyopathy 1EE MONDO:0005021 DOID:0110453 DOID:12930 dilated cardiomyopathy +MONDO:0013201 Waardenburg syndrome type 4B MONDO:0018094 DOID:0110954 DOID:9258 Waardenburg syndrome +MONDO:0013202 Waardenburg syndrome type 4C MONDO:0018094 DOID:0110955 DOID:9258 Waardenburg syndrome +MONDO:0013211 dilated cardiomyopathy 1FF MONDO:0005021 DOID:0110459 DOID:12930 dilated cardiomyopathy +MONDO:0013218 exudative vitreoretinopathy 5 MONDO:0019516 DOID:0111408 DOID:0050535 exudative vitreoretinopathy +MONDO:0013229 hot water reflex epilepsy MONDO:0017768 DOID:0081104 DOID:2548 reflex epilepsy +MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome MONDO:0000761 DOID:0060405 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0019064 DOID:0110793 DOID:2476 hereditary spastic paraplegia +MONDO:0013241 spinocerebellar ataxia type 30 MONDO:0020380 DOID:0050979 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013243 neuronopathy, distal hereditary motor, type 2C MONDO:0015362 DOID:0111209 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0013244 brachydactyly type E2 MONDO:0021004 DOID:0110976 DOID:0050581 brachydactyly +MONDO:0013247 Fanconi renotubular syndrome 2 MONDO:0001083 DOID:0080758 DOID:1062 Fanconi renotubular syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:0000761 DOID:0060395 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013259 Oguchi disease-2 MONDO:0016293 DOID:0110713 DOID:0050534 congenital stationary night blindness +MONDO:0013264 amyotrophic lateral sclerosis type 12 MONDO:0004976 DOID:0060203 DOID:332 amyotrophic lateral sclerosis +MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:0000761 DOID:0060398 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013272 chromosome 14q11-q22 deletion syndrome MONDO:0000761 DOID:0060392 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013273 chromosome 16p13.3 duplication syndrome MONDO:0000762 DOID:0060431 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013279 long QT syndrome 13 MONDO:0002442 DOID:0110654 DOID:2843 long QT syndrome +MONDO:0013280 myxoid liposarcoma MONDO:0005060 DOID:5363 DOID:3382 liposarcoma +MONDO:0013280 myxoid liposarcoma MONDO:0005060 DOID:5709 DOID:3382 liposarcoma +MONDO:0013287 agammaglobulinemia 2, autosomal recessive MONDO:0002211 DOID:0060024 DOID:2115 B cell deficiency +MONDO:0013287 agammaglobulinemia 2, autosomal recessive MONDO:0015977 DOID:0081135 DOID:2583 agammaglobulinemia +MONDO:0013288 agammaglobulinemia 3, autosomal recessive MONDO:0015977 DOID:0081137 DOID:2583 agammaglobulinemia +MONDO:0013289 agammaglobulinemia 4, autosomal recessive MONDO:0015977 DOID:0060027 DOID:2583 agammaglobulinemia +MONDO:0013290 agammaglobulinemia 5, autosomal dominant MONDO:0015977 DOID:0080588 DOID:2583 agammaglobulinemia +MONDO:0013291 glycogen storage disease XV MONDO:0002412 DOID:0050579 DOID:2747 disorder of glycogen metabolism +MONDO:0013292 chromosome 4q21 deletion syndrome MONDO:0000761 DOID:0060420 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:0000762 DOID:0060434 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013299 chromosome 6q11-q14 deletion syndrome MONDO:0000761 DOID:0060423 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome MONDO:0000761 DOID:0060414 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0005523 DOID:0080925 DOID:1701 steroid inherited metabolic disorder +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome MONDO:0000761 DOID:0060400 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:0000761 DOID:0060426 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0006025 DOID:0110204 DOID:0050737 autosomal recessive disease +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0018778 DOID:0110204 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0013339 dilated cardiomyopathy 1GG MONDO:0005021 DOID:0110435 DOID:12930 dilated cardiomyopathy +MONDO:0013354 spastic ataxia 4 MONDO:0006025 DOID:0050943 DOID:0050737 autosomal recessive disease +MONDO:0013354 spastic ataxia 4 MONDO:0017845 DOID:0050943 DOID:0050952 spastic ataxia +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0000426 DOID:0060403 DOID:0050736 autosomal dominant disease +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0000761 DOID:0060403 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013363 chromosome 2q31.1 duplication syndrome MONDO:0000762 DOID:0060458 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive MONDO:0000359 DOID:0112364 DOID:0050568 spondylocostal dysostosis +MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive MONDO:0006025 DOID:0112364 DOID:0050737 autosomal recessive disease +MONDO:0013367 long QT syndrome 2 MONDO:0002442 DOID:0110645 DOID:2843 long QT syndrome +MONDO:0013370 long QT syndrome 6 MONDO:0002442 DOID:0110648 DOID:2843 long QT syndrome +MONDO:0013371 dilated cardiomyopathy 1U MONDO:0005021 DOID:0110455 DOID:12930 dilated cardiomyopathy +MONDO:0013372 long QT syndrome 5 MONDO:0002442 DOID:0110647 DOID:2843 long QT syndrome +MONDO:0013373 dilated cardiomyopathy 1V MONDO:0005021 DOID:0110427 DOID:12930 dilated cardiomyopathy +MONDO:0013378 orofacial cleft 10 MONDO:0000358 DOID:0080403 DOID:0050567 orofacial cleft +MONDO:0013389 developmental and epileptic encephalopathy, 12 MONDO:0100062 DOID:0080459 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:0000761 DOID:0060409 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013411 cataract 16 multiple types MONDO:0005129 DOID:0110250 DOID:83 cataract +MONDO:0013415 chromosome 17p13.1 deletion syndrome MONDO:0000761 DOID:0060402 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013417 complement component 3 deficiency MONDO:0003832 DOID:8354 DOID:626 complement deficiency +MONDO:0013421 type II complement component 8 deficiency MONDO:0003832 DOID:0060302 DOID:626 complement deficiency +MONDO:0013422 type I complement component 8 deficiency MONDO:0003832 DOID:0060301 DOID:626 complement deficiency +MONDO:0013424 3p- syndrome MONDO:0000761 DOID:0060417 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013425 retinitis pigmentosa 20 MONDO:0006025 DOID:0110353 DOID:0050737 autosomal recessive disease +MONDO:0013428 Meier-Gorlin syndrome 2 MONDO:0006025 DOID:0080513 DOID:0050737 autosomal recessive disease +MONDO:0013430 Meier-Gorlin syndrome 3 MONDO:0006025 DOID:0080514 DOID:0050737 autosomal recessive disease +MONDO:0013431 Meier-Gorlin syndrome 4 MONDO:0006025 DOID:0080515 DOID:0050737 autosomal recessive disease +MONDO:0013432 Meier-Gorlin syndrome 5 MONDO:0006025 DOID:0080516 DOID:0050737 autosomal recessive disease +MONDO:0013445 complement component 9 deficiency MONDO:0003832 DOID:0060303 DOID:626 complement deficiency +MONDO:0013459 osteogenesis imperfecta type 10 MONDO:0019019 DOID:0110346 DOID:12347 osteogenesis imperfecta +MONDO:0013460 osteogenesis imperfecta type 12 MONDO:0019019 DOID:0110348 DOID:12347 osteogenesis imperfecta +MONDO:0013463 congenital heart defects, multiple types, 6 MONDO:0005453 DOID:0060772 DOID:1682 congenital heart disease +MONDO:0013479 dilated cardiomyopathy 1HH MONDO:0005021 DOID:0110448 DOID:12930 dilated cardiomyopathy +MONDO:0013480 renal hypomagnesemia 6 MONDO:0018100 DOID:0060884 DOID:0060879 familial primary hypomagnesemia +MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:0000761 DOID:0060391 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013485 spinocerebellar ataxia type 35 MONDO:0020380 DOID:0050982 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013500 immunodeficiency 51 MONDO:0003778 DOID:0111996 DOID:612 inborn error of immunity +MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 MONDO:0004976 DOID:0060205 DOID:332 amyotrophic lateral sclerosis +MONDO:0013502 amyloidosis, primary localized cutaneous, 2 MONDO:0015301 DOID:0080931 DOID:0050639 primary cutaneous amyloidosis +MONDO:0013512 hemoglobin H disease MONDO:0011399 DOID:0110031 DOID:1099 alpha thalassemia spectrum +MONDO:0013515 osteogenesis imperfecta type 6 MONDO:0019019 DOID:0110350 DOID:12347 osteogenesis imperfecta +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0015333 DOID:0081334 DOID:0081332 progeroid syndrome +MONDO:0013531 PSPH deficiency MONDO:0000421 DOID:0050724 DOID:0050721 inborn serine deficiency +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement MONDO:0018949 DOID:0111190 DOID:11720 distal myopathy +MONDO:0013555 Hermansky-Pudlak syndrome 3 MONDO:0019312 DOID:0060541 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013556 Hermansky-Pudlak syndrome 4 MONDO:0019312 DOID:0060542 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013557 Hermansky-Pudlak syndrome 5 MONDO:0019312 DOID:0060543 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013558 Hermansky-Pudlak syndrome 6 MONDO:0019312 DOID:0060544 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013571 acatalasia MONDO:0019053 DOID:2582 DOID:906 peroxisomal disease +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0015364 DOID:0070158 DOID:0050548 hereditary sensory and autonomic neuropathy +MONDO:0013589 focal segmental glomerulosclerosis 6 MONDO:0100313 DOID:0111131 DOID:1312 focal segmental glomerulosclerosis +MONDO:0013592 nonsyndromic congenital nail disorder 9 MONDO:0019284 DOID:0080087 DOID:0080683 inherited isolated nail anomaly +MONDO:0013594 spinocerebellar ataxia type 36 MONDO:0020380 DOID:0050983 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0003778 DOID:0111946 DOID:612 inborn error of immunity +MONDO:0013605 brittle cornea syndrome 2 MONDO:0000942 DOID:0080729 DOID:10124 corneal disorder +MONDO:0013605 brittle cornea syndrome 2 MONDO:0006025 DOID:0080729 DOID:0050737 autosomal recessive disease +MONDO:0013605 brittle cornea syndrome 2 MONDO:0020066 DOID:0080729 DOID:13359 Ehlers-Danlos syndrome +MONDO:0013619 nephrotic syndrome, type 6 MONDO:0002350 DOID:0080384 DOID:2590 familial nephrotic syndrome +MONDO:0013620 congenital myasthenic syndrome 16 MONDO:0006025 DOID:0110682 DOID:0050737 autosomal recessive disease +MONDO:0013620 congenital myasthenic syndrome 16 MONDO:0018940 DOID:0110682 DOID:3635 congenital myasthenic syndrome +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0015244 DOID:0080063 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:0000761 DOID:0060425 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013661 combined malonic and methylmalonic acidemia MONDO:0000688 DOID:0111263 DOID:0060159 inborn organic aciduria +MONDO:0013672 chromosome 15q25 deletion syndrome MONDO:0000761 DOID:0060396 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0000426 DOID:0070252 DOID:0050736 autosomal dominant disease +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0016830 DOID:0070252 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency MONDO:0019053 DOID:0060602 DOID:906 peroxisomal disease +MONDO:0013686 distal myopathy, Tateyama type MONDO:0000426 DOID:0111191 DOID:0050736 autosomal dominant disease +MONDO:0013686 distal myopathy, Tateyama type MONDO:0018949 DOID:0111191 DOID:11720 distal myopathy +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0015244 DOID:0080060 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0013715 amyotrophic lateral sclerosis type 16 MONDO:0004976 DOID:0060207 DOID:332 amyotrophic lateral sclerosis +MONDO:0013720 complement component 4b deficiency MONDO:0003832 DOID:0060298 DOID:626 complement deficiency +MONDO:0013721 complement component 4a deficiency MONDO:0003832 DOID:0060297 DOID:626 complement deficiency +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 DOID:0060797 DOID:0060786 leukodystrophy +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0019064 DOID:0110798 DOID:2476 hereditary spastic paraplegia +MONDO:0013744 cataract 37 MONDO:0005129 DOID:0110252 DOID:83 cataract +MONDO:0013757 congenital nongoitrous hypothyroidism 6 MONDO:0018612 DOID:0070128 DOID:0050328 congenital hypothyroidism +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0000426 DOID:0110205 DOID:0050736 autosomal dominant disease +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0018778 DOID:0110205 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0002305 DOID:0111908 DOID:2452 thrombophilia +MONDO:0013776 spastic ataxia 5 MONDO:0006025 DOID:0050944 DOID:0050737 autosomal recessive disease +MONDO:0013776 spastic ataxia 5 MONDO:0017845 DOID:0050944 DOID:0050952 spastic ataxia +MONDO:0013796 chromosome 17q12 duplication syndrome MONDO:0000762 DOID:0060433 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013797 chromosome 17q12 deletion syndrome MONDO:0000761 DOID:0060404 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0000761 DOID:0060401 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013801 developmental and epileptic encephalopathy, 13 MONDO:0100062 DOID:0080445 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0005559 DOID:0050883 DOID:1289 neurodegenerative disease +MONDO:0013808 Maffucci syndrome MONDO:0002254 DOID:0060221 DOID:225 syndromic disease +MONDO:0013813 dystonia 21 MONDO:0003441 DOID:0090046 DOID:543 dystonic disorder +MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:0000762 DOID:0060430 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013848 dilated cardiomyopathy 2B MONDO:0005021 DOID:0110441 DOID:12930 dilated cardiomyopathy +MONDO:0013853 pontocerebellar hypoplasia type 1B MONDO:0006025 DOID:0060266 DOID:0050737 autosomal recessive disease +MONDO:0013859 cataract 38 MONDO:0005129 DOID:0110245 DOID:83 cataract +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0016295 DOID:0110732 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019254 DOID:0060350 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0013883 congenital myasthenic syndrome 13 MONDO:0018940 DOID:0110676 DOID:3635 congenital myasthenic syndrome +MONDO:0013884 neuronopathy, distal hereditary motor, type 5B MONDO:0015362 DOID:0111205 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0020380 DOID:0050998 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013891 amyotrophic lateral sclerosis type 18 MONDO:0004976 DOID:0060209 DOID:332 amyotrophic lateral sclerosis +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:0015244 DOID:0080062 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 MONDO:0019507 DOID:0110062 DOID:2187 amelogenesis imperfecta +MONDO:0013907 bilateral generalized polymicrogyria MONDO:0000087 DOID:0080920 DOID:0080918 polymicrogyria +MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia MONDO:0018555 DOID:0090074 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia MONDO:0018555 DOID:0090085 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia MONDO:0018555 DOID:0090071 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia MONDO:0018555 DOID:0090087 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) MONDO:0019609 DOID:0080478 DOID:905 Zellweger spectrum disorders +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) MONDO:0019609 DOID:0080479 DOID:905 Zellweger spectrum disorders +MONDO:0013931 peroxisome biogenesis disorder 4B MONDO:0006025 DOID:0081433 DOID:0050737 autosomal recessive disease +MONDO:0013931 peroxisome biogenesis disorder 4B MONDO:0019234 DOID:0081433 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) MONDO:0019609 DOID:0080480 DOID:905 Zellweger spectrum disorders +MONDO:0013933 peroxisome biogenesis disorder 5B MONDO:0006025 DOID:0081434 DOID:0050737 autosomal recessive disease +MONDO:0013933 peroxisome biogenesis disorder 5B MONDO:0019234 DOID:0081434 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) MONDO:0019609 DOID:0080481 DOID:905 Zellweger spectrum disorders +MONDO:0013937 peroxisome biogenesis disorder 6B MONDO:0006025 DOID:0081435 DOID:0050737 autosomal recessive disease +MONDO:0013937 peroxisome biogenesis disorder 6B MONDO:0019234 DOID:0081435 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) MONDO:0019609 DOID:0080482 DOID:905 Zellweger spectrum disorders +MONDO:0013939 peroxisome biogenesis disorder 7B MONDO:0006025 DOID:0081436 DOID:0050737 autosomal recessive disease +MONDO:0013939 peroxisome biogenesis disorder 7B MONDO:0019234 DOID:0081436 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) MONDO:0019609 DOID:0080483 DOID:905 Zellweger spectrum disorders +MONDO:0013943 peroxisome biogenesis disorder 8B MONDO:0006025 DOID:0081437 DOID:0050737 autosomal recessive disease +MONDO:0013943 peroxisome biogenesis disorder 8B MONDO:0019234 DOID:0081437 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013945 peroxisome biogenesis disorder 9B MONDO:0006025 DOID:0081438 DOID:0050737 autosomal recessive disease +MONDO:0013945 peroxisome biogenesis disorder 9B MONDO:0019234 DOID:0081438 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia MONDO:0018555 DOID:0090075 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) MONDO:0019609 DOID:0080484 DOID:905 Zellweger spectrum disorders +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) MONDO:0019609 DOID:0080485 DOID:905 Zellweger spectrum disorders +MONDO:0013950 peroxisome biogenesis disorder 11B MONDO:0006025 DOID:0081439 DOID:0050737 autosomal recessive disease +MONDO:0013950 peroxisome biogenesis disorder 11B MONDO:0019234 DOID:0081439 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) MONDO:0019609 DOID:0080486 DOID:905 Zellweger spectrum disorders +MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) MONDO:0019609 DOID:0080487 DOID:905 Zellweger spectrum disorders +MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia MONDO:0018555 DOID:0090080 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0019064 DOID:0110805 DOID:2476 hereditary spastic paraplegia +MONDO:0013967 peroxisome biogenesis disorder 14B MONDO:0006025 DOID:0081274 DOID:0050737 autosomal recessive disease +MONDO:0013967 peroxisome biogenesis disorder 14B MONDO:0019234 DOID:0081274 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0004736 DOID:0090126 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:0000426 DOID:0111653 DOID:0050736 autosomal dominant disease +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:0016535 DOID:0111653 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0006025 DOID:0111654 DOID:0050737 autosomal recessive disease +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0016535 DOID:0111654 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0014009 autosomal recessive congenital ichthyosis 7 MONDO:0017265 DOID:0060716 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0014010 autosomal recessive congenital ichthyosis 9 MONDO:0017265 DOID:0060718 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0014011 autosomal recessive congenital ichthyosis 10 MONDO:0017265 DOID:0060719 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0019064 DOID:0110801 DOID:2476 hereditary spastic paraplegia +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0019064 DOID:0110806 DOID:2476 hereditary spastic paraplegia +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0019064 DOID:0110807 DOID:2476 hereditary spastic paraplegia +MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0019064 DOID:0110795 DOID:2476 hereditary spastic paraplegia +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0001516 DOID:0081356 DOID:12377 spinal muscular atrophy +MONDO:0014029 osteogenesis imperfecta type 14 MONDO:0019019 DOID:0110343 DOID:12347 osteogenesis imperfecta +MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0006025 DOID:0110940 DOID:0050737 autosomal recessive disease +MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0017198 DOID:0110940 DOID:13533 osteopetrosis +MONDO:0014052 congenital myasthenic syndrome 8 MONDO:0018940 DOID:0110657 DOID:3635 congenital myasthenic syndrome +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0005181 DOID:0111519 DOID:12558 progressive external ophthalmoplegia +MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 MONDO:0015448 DOID:0060351 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 MONDO:0015448 DOID:0080112 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 MONDO:0015448 DOID:0080113 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 MONDO:0015448 DOID:0080114 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014073 dilated cardiomyopathy 1II MONDO:0005021 DOID:0110450 DOID:12930 dilated cardiomyopathy +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0000426 DOID:0110206 DOID:0050736 autosomal dominant disease +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0018778 DOID:0110206 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0014075 cataract 39 multiple types MONDO:0005129 DOID:0110236 DOID:83 cataract +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0015780 DOID:0070022 DOID:2729 dyskeratosis congenita +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0018838 DOID:0112230 DOID:0050453 lissencephaly spectrum disorders +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0015974 DOID:0111957 DOID:627 severe combined immunodeficiency +MONDO:0014083 agammaglobulinemia 7, autosomal recessive MONDO:0015977 DOID:0081139 DOID:2583 agammaglobulinemia +MONDO:0014086 osteogenesis imperfecta type 15 MONDO:0019019 DOID:0110347 DOID:12347 osteogenesis imperfecta +MONDO:0014095 dilated cardiomyopathy 1JJ MONDO:0005021 DOID:0110438 DOID:12930 dilated cardiomyopathy +MONDO:0014099 nephrotic syndrome, type 8 MONDO:0002350 DOID:0080389 DOID:2590 familial nephrotic syndrome +MONDO:0014100 dilated cardiomyopathy 1KK MONDO:0005021 DOID:0110445 DOID:12930 dilated cardiomyopathy +MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia MONDO:0018555 DOID:0090079 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia MONDO:0018555 DOID:0090076 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia MONDO:0018555 DOID:0090090 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia MONDO:0018555 DOID:0090082 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia MONDO:0018555 DOID:0090093 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014110 cataract 15 multiple types MONDO:0005129 DOID:0110251 DOID:83 cataract +MONDO:0014111 cataract 19 multiple types MONDO:0005129 DOID:0110263 DOID:83 cataract +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0006025 DOID:0112132 DOID:0050737 autosomal recessive disease +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0018542 DOID:0112132 DOID:0050590 severe congenital neutropenia +MONDO:0014133 developmental and epileptic encephalopathy, 16 MONDO:0100062 DOID:0080449 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014138 nemaline myopathy 8 MONDO:0018958 DOID:0110930 DOID:3191 nemaline myopathy +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0016295 DOID:0110727 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0014150 developmental and epileptic encephalopathy 94 MONDO:0100062 DOID:0081325 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0006025 DOID:0110198 DOID:0050737 autosomal recessive disease +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0018778 DOID:0110198 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency MONDO:0015974 DOID:0060019 DOID:627 severe combined immunodeficiency +MONDO:0014181 amyotrophic lateral sclerosis type 20 MONDO:0004976 DOID:0060211 DOID:332 amyotrophic lateral sclerosis +MONDO:0014185 chromosome 3q13.31 deletion syndrome MONDO:0000761 DOID:0060418 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 MONDO:0015448 DOID:0080115 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014198 mitochondrial DNA depletion syndrome 13 MONDO:0018158 DOID:0080131 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0014223 amyotrophic lateral sclerosis type 19 MONDO:0004976 DOID:0060210 DOID:332 amyotrophic lateral sclerosis +MONDO:0014231 juvenile onset Parkinson disease 19A MONDO:0017279 DOID:0060891 DOID:0060894 young-onset Parkinson disease +MONDO:0014234 reticulate acropigmentation of Kitamura MONDO:0019288 DOID:0060258 DOID:10123 skin pigmentation disorder +MONDO:0014235 chromosome 22q13 duplication syndrome MONDO:0000762 DOID:0060437 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:0020066 DOID:0080735 DOID:13359 Ehlers-Danlos syndrome +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:0020066 DOID:0080737 DOID:13359 Ehlers-Danlos syndrome +MONDO:0014243 Schaaf-Yang syndrome MONDO:0002254 DOID:0111715 DOID:225 syndromic disease +MONDO:0014257 nephrotic syndrome, type 9 MONDO:0002350 DOID:0080391 DOID:2590 familial nephrotic syndrome +MONDO:0014259 neuronopathy, distal hereditary motor, type 2D MONDO:0015362 DOID:0111210 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0015974 DOID:0111959 DOID:627 severe combined immunodeficiency +MONDO:0014275 Fanconi renotubular syndrome 3 MONDO:0001083 DOID:0080759 DOID:1062 Fanconi renotubular syndrome +MONDO:0014278 immunodeficiency 18 MONDO:0015974 DOID:0060017 DOID:627 severe combined immunodeficiency +MONDO:0014280 immunodeficiency 19 MONDO:0015974 DOID:0060016 DOID:627 severe combined immunodeficiency +MONDO:0014280 immunodeficiency 19 MONDO:0015974 DOID:0111972 DOID:627 severe combined immunodeficiency +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0019064 DOID:0110817 DOID:2476 hereditary spastic paraplegia +MONDO:0014294 chromosome 15q11.2 deletion syndrome MONDO:0000761 DOID:0060393 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0019064 DOID:0110809 DOID:2476 hereditary spastic paraplegia +MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:0000761 DOID:0060421 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0019064 DOID:0110813 DOID:2476 hereditary spastic paraplegia +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0019064 DOID:0110815 DOID:2476 hereditary spastic paraplegia +MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0019064 DOID:0110812 DOID:2476 hereditary spastic paraplegia +MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0019064 DOID:0110814 DOID:2476 hereditary spastic paraplegia +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0015244 DOID:0080057 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0002254 DOID:0112226 DOID:225 syndromic disease +MONDO:0014321 premature ovarian failure 8 MONDO:0005387 DOID:0080865 DOID:5426 primary ovarian failure +MONDO:0014322 premature ovarian failure 9 MONDO:0005387 DOID:0080866 DOID:5426 primary ovarian failure +MONDO:0014326 nemaline myopathy 9 MONDO:0018958 DOID:0110929 DOID:3191 nemaline myopathy +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0015974 DOID:0111937 DOID:627 severe combined immunodeficiency +MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 MONDO:0015448 DOID:0080116 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014360 developmental and epileptic encephalopathy, 21 MONDO:0100062 DOID:0080443 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 MONDO:0015448 DOID:0080117 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014373 nephrotic syndrome, type 10 MONDO:0002350 DOID:0080386 DOID:2590 familial nephrotic syndrome +MONDO:0014377 developmental and epileptic encephalopathy, 24 MONDO:0100062 DOID:0080429 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014383 myopathy, tubular aggregate, 2 MONDO:0005336 DOID:0080686 DOID:423 myopathy +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 MONDO:0019507 DOID:0110063 DOID:2187 amelogenesis imperfecta +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure MONDO:0019046 DOID:0070396 DOID:10579 leukodystrophy +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0015974 DOID:0111938 DOID:627 severe combined immunodeficiency +MONDO:0014392 developmental and epileptic encephalopathy, 25 MONDO:0100062 DOID:0080453 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 MONDO:0004976 DOID:0060214 DOID:332 amyotrophic lateral sclerosis +MONDO:0014396 dilated cardiomyopathy 1NN MONDO:0005021 DOID:0110432 DOID:12930 dilated cardiomyopathy +MONDO:0014410 spinocerebellar ataxia type 37 MONDO:0020380 DOID:0050984 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0020380 DOID:0050985 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0015974 DOID:0111961 DOID:627 severe combined immunodeficiency +MONDO:0014451 focal segmental glomerulosclerosis 7 MONDO:0100313 DOID:0111132 DOID:1312 focal segmental glomerulosclerosis +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0006025 DOID:0112134 DOID:0050737 autosomal recessive disease +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0018542 DOID:0112134 DOID:0050590 severe congenital neutropenia +MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young MONDO:0001083 DOID:0080760 DOID:1062 Fanconi renotubular syndrome +MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia MONDO:0018555 DOID:0090081 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014462 focal segmental glomerulosclerosis 8 MONDO:0100313 DOID:0111133 DOID:1312 focal segmental glomerulosclerosis +MONDO:0014466 Neu-Laxova syndrome 2 MONDO:0000421 DOID:0080075 DOID:0050721 inborn serine deficiency +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0006025 DOID:0110203 DOID:0050737 autosomal recessive disease +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0018778 DOID:0110203 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0004069 DOID:0111143 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0014475 spinocerebellar ataxia type 40 MONDO:0020380 DOID:0050986 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014477 developmental and epileptic encephalopathy, 26 MONDO:0100062 DOID:0080461 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014485 pontocerebellar hypoplasia, type 1C MONDO:0006025 DOID:0112334 DOID:0050737 autosomal recessive disease +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0015194 DOID:0080209 DOID:8955 sideroblastic anemia +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0006025 DOID:0112381 DOID:0050737 autosomal recessive disease +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0018276 DOID:0112381 DOID:0112374 muscular dystrophy-dystroglycanopathy +MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 MONDO:0015448 DOID:0080118 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0015244 DOID:0080064 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014507 Catel-Manzke syndrome MONDO:0005381 DOID:0081122 DOID:0080001 bone disorder +MONDO:0014513 nemaline myopathy 10 MONDO:0018958 DOID:0110931 DOID:3191 nemaline myopathy +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0002254 DOID:0111264 DOID:225 syndromic disease +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:0015244 DOID:0080042 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014531 amyotrophic lateral sclerosis type 22 MONDO:0004976 DOID:0060355 DOID:332 amyotrophic lateral sclerosis +MONDO:0014533 developmental and epileptic encephalopathy, 28 MONDO:0100062 DOID:0080452 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014539 focal segmental glomerulosclerosis 9 MONDO:0100313 DOID:0111134 DOID:1312 focal segmental glomerulosclerosis +MONDO:0014540 amelogenesis imperfecta type 1H MONDO:0019507 DOID:0110064 DOID:2187 amelogenesis imperfecta +MONDO:0014543 congenital myasthenic syndrome 14 MONDO:0018940 DOID:0110669 DOID:3635 congenital myasthenic syndrome +MONDO:0014544 osteogenesis imperfecta type 16 MONDO:0019019 DOID:0110345 DOID:12347 osteogenesis imperfecta +MONDO:0014548 long QT syndrome 14 MONDO:0002442 DOID:0110655 DOID:2843 long QT syndrome +MONDO:0014550 long QT syndrome 15 MONDO:0002442 DOID:0110656 DOID:2843 long QT syndrome +MONDO:0014555 peeling skin syndrome type A MONDO:0019347 DOID:0070522 DOID:0060283 peeling skin syndrome +MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0015244 DOID:0081383 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014560 amelogenesis imperfecta type 1F MONDO:0019507 DOID:0110065 DOID:2187 amelogenesis imperfecta +MONDO:0014565 cataract 43 MONDO:0005129 DOID:0110259 DOID:83 cataract +MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0019064 DOID:0110818 DOID:2476 hereditary spastic paraplegia +MONDO:0014571 optic atrophy 9 MONDO:0003608 DOID:0111442 DOID:5723 optic atrophy +MONDO:0014578 congenital myasthenic syndrome 17 MONDO:0018940 DOID:0110674 DOID:3635 congenital myasthenic syndrome +MONDO:0014581 congenital myasthenic syndrome 2A MONDO:0018940 DOID:0110681 DOID:3635 congenital myasthenic syndrome +MONDO:0014582 congenital myasthenic syndrome 2C MONDO:0018940 DOID:0110680 DOID:3635 congenital myasthenic syndrome +MONDO:0014583 congenital myasthenic syndrome 3A MONDO:0018940 DOID:0110666 DOID:3635 congenital myasthenic syndrome +MONDO:0014584 congenital myasthenic syndrome 3B MONDO:0018940 DOID:0110665 DOID:3635 congenital myasthenic syndrome +MONDO:0014585 congenital myasthenic syndrome 3C MONDO:0018940 DOID:0110664 DOID:3635 congenital myasthenic syndrome +MONDO:0014586 congenital myasthenic syndrome 4B MONDO:0018940 DOID:0110677 DOID:3635 congenital myasthenic syndrome +MONDO:0014587 congenital myasthenic syndrome 9 MONDO:0018940 DOID:0110670 DOID:3635 congenital myasthenic syndrome +MONDO:0014588 congenital myasthenic syndrome 11 MONDO:0018940 DOID:0110675 DOID:3635 congenital myasthenic syndrome +MONDO:0014591 autosomal dominant Robinow syndrome 2 MONDO:0000426 DOID:0060765 DOID:0050736 autosomal dominant disease +MONDO:0014591 autosomal dominant Robinow syndrome 2 MONDO:0019978 DOID:0060765 DOID:0060254 Robinow syndrome +MONDO:0014593 developmental and epileptic encephalopathy, 29 MONDO:0100062 DOID:0080451 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014598 developmental and epileptic encephalopathy, 31A MONDO:0100062 DOID:0080437 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014607 developmental and epileptic encephalopathy, 32 MONDO:0100062 DOID:0080416 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014625 developmental and epileptic encephalopathy, 33 MONDO:0100062 DOID:0080463 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014626 spinocerebellar ataxia type 41 MONDO:0020380 DOID:0111744 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0002254 DOID:0081242 DOID:225 syndromic disease +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0004976 DOID:0110068 DOID:332 amyotrophic lateral sclerosis +MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 MONDO:0004976 DOID:0110069 DOID:332 amyotrophic lateral sclerosis +MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0019064 DOID:0110819 DOID:2476 hereditary spastic paraplegia +MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MONDO:0005181 DOID:0111515 DOID:12558 progressive external ophthalmoplegia +MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 DOID:0060792 DOID:0060786 leukodystrophy +MONDO:0014672 osteogenesis imperfecta type 17 MONDO:0019019 DOID:0110338 DOID:12347 osteogenesis imperfecta +MONDO:0014673 cataract 44 MONDO:0005129 DOID:0110267 DOID:83 cataract +MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly MONDO:0006025 DOID:0110096 DOID:0050737 autosomal recessive disease +MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive MONDO:0000359 DOID:0112360 DOID:0050568 spondylocostal dysostosis +MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive MONDO:0006025 DOID:0112360 DOID:0050737 autosomal recessive disease +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0019064 DOID:0110825 DOID:2476 hereditary spastic paraplegia +MONDO:0014718 developmental and epileptic encephalopathy, 34 MONDO:0100062 DOID:0080460 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0000426 DOID:0111340 DOID:0050736 autosomal dominant disease +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0019064 DOID:0110820 DOID:2476 hereditary spastic paraplegia +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:0015776 DOID:0110854 DOID:2580 rhizomelic chondrodysplasia punctata +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015244 DOID:0111155 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014745 congenital myasthenic syndrome 19 MONDO:0018940 DOID:0110673 DOID:3635 congenital myasthenic syndrome +MONDO:0014752 nephrotic syndrome, type 11 MONDO:0002350 DOID:0080385 DOID:2590 familial nephrotic syndrome +MONDO:0014772 orofacial cleft 15 MONDO:0000358 DOID:0080408 DOID:0050567 orofacial cleft +MONDO:0014776 spinocerebellar ataxia type 42 MONDO:0020380 DOID:0111742 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014799 cataract 45 MONDO:0005129 DOID:0110262 DOID:83 cataract +MONDO:0014804 sideroblastic anemia 3 MONDO:0006025 DOID:0080343 DOID:0050737 autosomal recessive disease +MONDO:0014804 sideroblastic anemia 3 MONDO:0015194 DOID:0080343 DOID:8955 sideroblastic anemia +MONDO:0014808 congenital secretory sodium diarrhea 8 MONDO:0000249 DOID:0060777 DOID:0050129 secretory diarrhea +MONDO:0014817 nephrotic syndrome, type 12 MONDO:0002350 DOID:0080387 DOID:2590 familial nephrotic syndrome +MONDO:0014818 nephrotic syndrome, type 13 MONDO:0002350 DOID:0080381 DOID:2590 familial nephrotic syndrome +MONDO:0014819 autosomal dominant Robinow syndrome 3 MONDO:0000426 DOID:0060767 DOID:0050736 autosomal dominant disease +MONDO:0014819 autosomal dominant Robinow syndrome 3 MONDO:0019978 DOID:0060767 DOID:0060254 Robinow syndrome +MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0019064 DOID:0110821 DOID:2476 hereditary spastic paraplegia +MONDO:0014840 agammaglobulinemia 8, autosomal dominant MONDO:0015977 DOID:0081140 DOID:2583 agammaglobulinemia +MONDO:0014843 premature ovarian failure 11 MONDO:0005387 DOID:0080868 DOID:5426 primary ovarian failure +MONDO:0014843 premature ovarian failure 11 MONDO:0005387 DOID:0080869 DOID:5426 primary ovarian failure +MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0015244 DOID:0111613 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0006025 DOID:0112129 DOID:0050737 autosomal recessive disease +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0018542 DOID:0112129 DOID:0050590 severe congenital neutropenia +MONDO:0014894 Meier-Gorlin syndrome 7 MONDO:0006025 DOID:0080518 DOID:0050737 autosomal recessive disease +MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MONDO:0005181 DOID:0111523 DOID:12558 progressive external ophthalmoplegia +MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MONDO:0006025 DOID:0111523 DOID:0050737 autosomal recessive disease +MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0005181 DOID:0111516 DOID:12558 progressive external ophthalmoplegia +MONDO:0014916 developmental and epileptic encephalopathy, 41 MONDO:0100062 DOID:0080442 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014917 developmental and epileptic encephalopathy, 42 MONDO:0100062 DOID:0080454 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014921 developmental and epileptic encephalopathy, 43 MONDO:0100062 DOID:0080447 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014933 developmental and epileptic encephalopathy, 44 MONDO:0100062 DOID:0080424 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014942 developmental and epileptic encephalopathy, 45 MONDO:0100062 DOID:0080428 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014947 developmental and epileptic encephalopathy, 46 MONDO:0100062 DOID:0080456 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014949 developmental and epileptic encephalopathy, 47 MONDO:0100062 DOID:0080425 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 MONDO:0006025 DOID:0112104 DOID:0050737 autosomal recessive disease +MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 MONDO:0020066 DOID:0080987 DOID:13359 Ehlers-Danlos syndrome +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 MONDO:0019507 DOID:0080960 DOID:2187 amelogenesis imperfecta +MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0019064 DOID:0112348 DOID:2476 hereditary spastic paraplegia +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0003441 DOID:0081419 DOID:543 dystonic disorder +MONDO:0015004 dystonia 28, childhood-onset MONDO:0003441 DOID:0060936 DOID:543 dystonic disorder +MONDO:0015008 amelogenesis imperfecta, type 1J MONDO:0019507 DOID:0080953 DOID:2187 amelogenesis imperfecta +MONDO:0015011 optic atrophy 11 MONDO:0003608 DOID:0111436 DOID:5723 optic atrophy +MONDO:0015059 progressive non-fluent aphasia MONDO:0019806 DOID:0081390 DOID:0081388 primary progressive aphasia +MONDO:0015175 autoimmune pancreatitis MONDO:0002356 DOID:0040091 DOID:26 pancreas disorder +MONDO:0015200 anisakiasis MONDO:0004664 DOID:7033 DOID:883 helminthiasis +MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0000437 DOID:0050950 DOID:0050753 cerebellar ataxia +MONDO:0015260 diphyllobothriasis MONDO:0004664 DOID:10075 DOID:883 helminthiasis +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0015075 DOID:3973 DOID:3963 thyroid gland carcinoma +MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0005093 DOID:2058 DOID:37 skin disorder +MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0021060 DOID:0060233 DOID:0080690 RASopathy +MONDO:0015288 herpes simplex virus keratitis MONDO:0003085 DOID:0080158 DOID:4677 keratitis +MONDO:0015301 primary cutaneous amyloidosis MONDO:0005093 DOID:0050639 DOID:37 skin disorder +MONDO:0015364 hereditary sensory and autonomic neuropathy MONDO:0005244 DOID:0050548 DOID:870 peripheral neuropathy +MONDO:0015375 orofaciodigital syndrome MONDO:0002254 DOID:4501 DOID:225 syndromic disease +MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0006500 DOID:0080895 DOID:255 hemangioma +MONDO:0015408 diffuse lymphatic malformation MONDO:0005833 DOID:0081031 DOID:75 lymphatic system disorder +MONDO:0015448 mitochondrial complex III deficiency MONDO:0004069 DOID:0111139 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0015454 multiple carboxylase deficiency MONDO:0004736 DOID:857 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0015459 nasopharyngeal carcinoma MONDO:0000376 DOID:9261 DOID:0050615 respiratory system cancer +MONDO:0015459 nasopharyngeal carcinoma MONDO:0004821 DOID:9261 DOID:9561 nasopharyngeal disorder +MONDO:0015459 nasopharyngeal carcinoma MONDO:0004993 DOID:9261 DOID:305 carcinoma +MONDO:0015459 nasopharyngeal carcinoma MONDO:0005517 DOID:9261 DOID:0060119 pharynx cancer +MONDO:0015465 craniometaphyseal dysplasia MONDO:0002933 DOID:0080033 DOID:4254 osteosclerosis +MONDO:0015474 cryptosporidiosis MONDO:0005020 DOID:1733 DOID:5295 intestinal disorder +MONDO:0015517 common variable immunodeficiency MONDO:0015977 DOID:12177 DOID:2583 agammaglobulinemia +MONDO:0015597 pustulosis palmaris et plantaris MONDO:0002406 DOID:4398 DOID:2723 dermatitis +MONDO:0015609 advanced sleep phase syndrome MONDO:0003406 DOID:0050628 DOID:535 sleep-wake disorder +MONDO:0015626 Charcot-Marie-Tooth disease MONDO:0019056 DOID:10595 DOID:440 neuromuscular disease +MONDO:0015643 photosensitive epilepsy MONDO:0005027 DOID:0060281 DOID:1826 epilepsy +MONDO:0015691 hypereosinophilic syndrome MONDO:0004805 DOID:999 DOID:9500 leukocyte disorder +MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency MONDO:0015974 DOID:0060014 DOID:627 severe combined immunodeficiency +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0006025 DOID:0111216 DOID:0050737 autosomal recessive disease +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0001531 DOID:0112172 DOID:1247 blood coagulation disease +MONDO:0015748 hereditary mucosal leukokeratosis MONDO:0005093 DOID:0050448 DOID:37 skin disorder +MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0019072 DOID:0070221 DOID:1852 intrahepatic cholestasis +MONDO:0015780 dyskeratosis congenita MONDO:0005093 DOID:2729 DOID:37 skin disorder +MONDO:0015797 UV-sensitive syndrome MONDO:0005093 DOID:0060240 DOID:37 skin disorder +MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:0000426 DOID:0060307 DOID:0050736 autosomal dominant disease +MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:0001071 DOID:0060307 DOID:1059 intellectual disability +MONDO:0015803 wound botulism MONDO:0005498 DOID:0050353 DOID:11976 botulism +MONDO:0015804 infant botulism MONDO:0005498 DOID:0050354 DOID:11976 botulism +MONDO:0015805 intestinal botulism MONDO:0005498 DOID:0050141 DOID:11976 botulism +MONDO:0015864 mixed germ cell tumor MONDO:0005040 DOID:3306 DOID:2994 germ cell tumor +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0018882 DOID:3049 DOID:865 vasculitis +MONDO:0015993 cone-rod dystrophy MONDO:0004580 DOID:0050572 DOID:8466 retinal degeneration +MONDO:0016047 endophthalmitis MONDO:0005328 DOID:4692 DOID:1242 eye disorder +MONDO:0016107 myotonic dystrophy MONDO:0020121 DOID:450 DOID:9884 muscular dystrophy +MONDO:0016162 bilateral frontal polymicrogyria MONDO:0000087 DOID:0080921 DOID:0080918 polymicrogyria +MONDO:0016239 cystinosis MONDO:0002561 DOID:1064 DOID:3211 lysosomal storage disease +MONDO:0016256 Hennekam syndrome MONDO:0005833 DOID:0060366 DOID:75 lymphatic system disorder +MONDO:0016367 dermatomyositis MONDO:0005093 DOID:10223 DOID:37 skin disorder +MONDO:0016367 dermatomyositis MONDO:0021167 DOID:10223 DOID:633 myositis disease +MONDO:0016390 familial hypoparathyroidism MONDO:0001220 DOID:0111387 DOID:11199 hypoparathyroidism +MONDO:0016391 neonatal diabetes mellitus MONDO:0005015 DOID:11717 DOID:9351 diabetes mellitus +MONDO:0016472 dracunculiasis MONDO:0004664 DOID:14418 DOID:883 helminthiasis +MONDO:0016486 beta-thalassemia major MONDO:0019402 DOID:0080771 DOID:12241 beta thalassemia +MONDO:0016487 beta-thalassemia intermedia MONDO:0019402 DOID:0080772 DOID:12241 beta thalassemia +MONDO:0016576 split hand-foot malformation MONDO:0005497 DOID:0090020 DOID:0080006 bone development disease +MONDO:0016612 X-linked cerebellar ataxia MONDO:0100309 DOID:0050953 DOID:0050951 hereditary ataxia +MONDO:0016649 Warburg micro syndrome MONDO:0002254 DOID:0060237 DOID:225 syndromic disease +MONDO:0016681 gliosarcoma MONDO:0018177 DOID:3071 DOID:3068 glioblastoma +MONDO:0016682 giant cell glioblastoma MONDO:0018177 DOID:3074 DOID:3068 glioblastoma +MONDO:0016683 gliomatosis cerebri MONDO:0001657 DOID:6128 DOID:1319 brain cancer +MONDO:0016684 anaplastic astrocytoma MONDO:0021636 DOID:3078 DOID:3069 astrocytic tumor +MONDO:0016686 diffuse astrocytoma MONDO:0021637 DOID:4857 DOID:0080829 low grade glioma +MONDO:0016687 protoplasmic astrocytoma MONDO:0021636 DOID:7008 DOID:3069 astrocytic tumor +MONDO:0016688 fibrillary astrocytoma MONDO:0021636 DOID:6726 DOID:3069 astrocytic tumor +MONDO:0016689 gemistocytic astrocytoma MONDO:0021636 DOID:7005 DOID:3069 astrocytic tumor +MONDO:0016690 pleomorphic xanthoastrocytoma MONDO:0021637 DOID:4852 DOID:0080829 low grade glioma +MONDO:0016695 oligodendroglioma MONDO:0100342 DOID:3181 DOID:3070 malignant glioma +MONDO:0016698 ependymoma MONDO:0021637 DOID:4844 DOID:0080829 low grade glioma +MONDO:0016700 anaplastic ependymoma MONDO:0100342 DOID:5074 DOID:3070 malignant glioma +MONDO:0016706 chordoid glioma of the third ventricle MONDO:0100342 DOID:3774 DOID:3070 malignant glioma +MONDO:0016748 hemangioblastoma MONDO:0006500 DOID:5241 DOID:255 hemangioma +MONDO:0016787 epithelioid trophoblastic tumor MONDO:0002872 DOID:3593 DOID:4085 trophoblastic neoplasm +MONDO:0016824 infantile myofibromatosis MONDO:0000654 DOID:0080109 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0020121 DOID:11726 DOID:9884 muscular dystrophy +MONDO:0016955 partial duplication of the long arm of chromosome 4 MONDO:0000762 DOID:0111159 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0016971 limb-girdle muscular dystrophy MONDO:0020121 DOID:11724 DOID:9884 muscular dystrophy +MONDO:0016987 neuroacanthocytosis MONDO:0005559 DOID:0050765 DOID:1289 neurodegenerative disease +MONDO:0017043 congenital mesoblastic nephroma MONDO:0002367 DOID:4773 DOID:263 kidney cancer +MONDO:0017048 pseudomyxoma peritonei MONDO:0001235 DOID:3559 DOID:11239 appendix cancer +MONDO:0017093 unilateral focal polymicrogyria MONDO:0000087 DOID:0080919 DOID:0080918 polymicrogyria +MONDO:0017169 multiple endocrine neoplasia MONDO:0002254 DOID:3125 DOID:225 syndromic disease +MONDO:0017178 osteochondritis dissecans MONDO:0005380 DOID:84 DOID:0080008 osteonecrosis +MONDO:0017198 osteopetrosis MONDO:0002933 DOID:13533 DOID:4254 osteosclerosis +MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:0019269 DOID:0060655 DOID:1697 ichthyosis +MONDO:0017276 frontotemporal dementia MONDO:0001627 DOID:9255 DOID:1307 dementia +MONDO:0017319 hereditary elliptocytosis MONDO:0005570 DOID:2373 DOID:74 hematologic disorder +MONDO:0017324 autosomal recessive hypophosphatemic rickets MONDO:0005520 DOID:0050949 DOID:10609 rickets +MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome MONDO:0004069 DOID:0070330 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0017359 3-methylglutaconic aciduria MONDO:0000688 DOID:0060336 DOID:0060159 inborn organic aciduria +MONDO:0017373 poliomyelitis MONDO:0005108 DOID:4953 DOID:934 viral infectious disease +MONDO:0017387 epithelioid sarcoma MONDO:0005089 DOID:6193 DOID:1115 sarcoma +MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form MONDO:0000591 DOID:0070534 DOID:0060036 intrinsic cardiomyopathy +MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form MONDO:0000591 DOID:0070535 DOID:0060036 intrinsic cardiomyopathy +MONDO:0017410 porencephaly MONDO:0005560 DOID:0060263 DOID:936 brain disorder +MONDO:0017435 popliteal pterygium syndrome MONDO:0002254 DOID:0060055 DOID:225 syndromic disease +MONDO:0017570 leukocyte adhesion deficiency MONDO:0004805 DOID:6612 DOID:9500 leukocyte disorder +MONDO:0017572 tick-borne encephalitis MONDO:0005108 DOID:0050175 DOID:934 viral infectious disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0004993 DOID:4916 DOID:305 carcinoma +MONDO:0017590 carcinoma of the ampulla of vater MONDO:0004993 DOID:4932 DOID:305 carcinoma +MONDO:0017604 marginal zone lymphoma MONDO:0004095 DOID:0050748 DOID:707 B-cell neoplasm +MONDO:0017610 epidermolysis bullosa simplex MONDO:0006541 DOID:4644 DOID:2730 epidermolysis bullosa +MONDO:0017612 junctional epidermolysis bullosa MONDO:0006541 DOID:3209 DOID:2730 epidermolysis bullosa +MONDO:0017675 punctate palmoplantar keratoderma MONDO:0006590 DOID:0060361 DOID:3390 palmoplantar keratosis +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0002561 DOID:0112317 DOID:3211 lysosomal storage disease +MONDO:0017795 ameloblastoma MONDO:0005165 DOID:0050894 DOID:0060084 benign neoplasm +MONDO:0017810 variant ABeta2M amyloidosis MONDO:0019052 DOID:0080929 DOID:655 inborn errors of metabolism +MONDO:0017810 variant ABeta2M amyloidosis MONDO:0019065 DOID:0080929 DOID:9120 amyloidosis +MONDO:0017814 primary bone lymphoma MONDO:0005062 DOID:6759 DOID:0060058 lymphoma +MONDO:0017851 erythrokeratodermia variabilis MONDO:0005093 DOID:0050467 DOID:37 skin disorder +MONDO:0017853 hypersensitivity pneumonitis MONDO:0005271 DOID:841 DOID:1205 allergic disease +MONDO:0017858 acute erythroid leukemia MONDO:0018874 DOID:0080780 DOID:9119 acute myeloid leukemia +MONDO:0017872 Lujo hemorrhagic fever MONDO:0005108 DOID:0050202 DOID:934 viral infectious disease +MONDO:0017874 Argentine hemorrhagic fever MONDO:0005108 DOID:0050194 DOID:934 viral infectious disease +MONDO:0017875 Bolivian hemorrhagic fever MONDO:0005108 DOID:0050195 DOID:934 viral infectious disease +MONDO:0017876 Venezuelan hemorrhagic fever MONDO:0005108 DOID:0050196 DOID:934 viral infectious disease +MONDO:0017877 Brazilian hemorrhagic fever MONDO:0005108 DOID:0050197 DOID:934 viral infectious disease +MONDO:0017878 Chapare hemorrhagic fever MONDO:0005108 DOID:0050198 DOID:934 viral infectious disease +MONDO:0017879 hantavirus pulmonary syndrome MONDO:0005108 DOID:14472 DOID:934 viral infectious disease +MONDO:0017880 Rift valley fever MONDO:0005108 DOID:1328 DOID:934 viral infectious disease +MONDO:0017881 Kyasanur forest disease MONDO:0005108 DOID:11320 DOID:934 viral infectious disease +MONDO:0017882 Omsk hemorrhagic fever MONDO:0005108 DOID:992 DOID:934 viral infectious disease +MONDO:0017884 papillary renal cell carcinoma MONDO:0005086 DOID:4465 DOID:4450 renal cell carcinoma +MONDO:0017885 chromophobe renal cell carcinoma MONDO:0005086 DOID:4471 DOID:4450 renal cell carcinoma +MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:0003664 DOID:0111575 DOID:583 hemolytic anemia +MONDO:0017923 multiple synostoses syndrome MONDO:0018234 DOID:0050794 DOID:1934 dysostosis +MONDO:0017941 chikungunya MONDO:0005108 DOID:0050012 DOID:934 viral infectious disease +MONDO:0017991 Takayasu arteritis MONDO:0000473 DOID:2508 DOID:0050828 arterial disorder +MONDO:0017991 Takayasu arteritis MONDO:0018882 DOID:2508 DOID:865 vasculitis +MONDO:0018018 wild type ATTR amyloidosis MONDO:0005267 DOID:0080937 DOID:114 heart disorder +MONDO:0018029 congenital factor XIII deficiency MONDO:0001531 DOID:2211 DOID:1247 blood coagulation disease +MONDO:0018053 trichothiodystrophy MONDO:0002254 DOID:0111866 DOID:225 syndromic disease +MONDO:0018068 trisomy 13 MONDO:0019040 DOID:11665 DOID:0080014 chromosomal disorder +MONDO:0018106 hereditary xanthinuria MONDO:0019254 DOID:0060236 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0018116 galactosemia MONDO:0019214 DOID:9870 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0005395 DOID:0070490 DOID:480 movement disorder +MONDO:0018151 coenzyme Q10 deficiency MONDO:0004069 DOID:0050730 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0018155 lateral sclerosis MONDO:0020128 DOID:230 DOID:231 motor neuron disorder +MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:0004069 DOID:0070329 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0018177 glioblastoma MONDO:0021636 DOID:3068 DOID:3069 astrocytic tumor +MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0005093 DOID:9063 DOID:37 skin disorder +MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0001516 DOID:0070348 DOID:12377 spinal muscular atrophy +MONDO:0018229 Stevens-Johnson syndrome MONDO:0005093 DOID:0050426 DOID:37 skin disorder +MONDO:0018301 interstitial cystitis MONDO:0006032 DOID:13949 DOID:1679 cystitis +MONDO:0018306 Griscelli syndrome MONDO:0002051 DOID:0060831 DOID:16 integumentary system disorder +MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0005559 DOID:0110734 DOID:1289 neurodegenerative disease +MONDO:0018319 familial episodic pain syndrome MONDO:0005244 DOID:0111728 DOID:870 peripheral neuropathy +MONDO:0018368 primary peritoneal serous/papillary carcinoma MONDO:0003195 DOID:6228 DOID:4901 peritoneal serous adenocarcinoma +MONDO:0018369 immature ovarian teratoma MONDO:0018171 DOID:6331 DOID:2155 malignant germ cell tumor of ovary +MONDO:0018408 cystic echinococcosis MONDO:0005738 DOID:1495 DOID:1496 echinococcosis +MONDO:0018470 renal agenesis MONDO:0005240 DOID:14766 DOID:557 kidney disorder +MONDO:0018513 squamous cell carcinoma of colon MONDO:0005096 DOID:5519 DOID:1749 squamous cell carcinoma +MONDO:0018515 squamous cell carcinoma of rectum MONDO:0005096 DOID:5528 DOID:1749 squamous cell carcinoma +MONDO:0018515 squamous cell carcinoma of rectum MONDO:0006519 DOID:5528 DOID:1993 rectal cancer +MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0009831 DOID:0080323 DOID:1793 malignant pancreatic neoplasm +MONDO:0018542 severe congenital neutropenia MONDO:0001475 DOID:0050590 DOID:1227 neutropenia +MONDO:0018570 hypophosphatasia MONDO:0000429 DOID:14213 DOID:0050739 autosomal genetic disease +MONDO:0018626 paratyphoid fever MONDO:0000314 DOID:3055 DOID:0050338 primary bacterial infectious disease +MONDO:0018661 Zika virus infectious disease MONDO:0005108 DOID:0060478 DOID:934 viral infectious disease +MONDO:0018666 hepatoblastoma MONDO:0002691 DOID:687 DOID:3571 liver cancer +MONDO:0018687 progressive muscular atrophy MONDO:0020128 DOID:318 DOID:231 motor neuron disorder +MONDO:0018767 severe primary trimethylaminuria MONDO:0019052 DOID:0080361 DOID:655 inborn errors of metabolism +MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0003000 DOID:7232 DOID:4439 central nervous system germ cell tumor +MONDO:0018865 striate palmoplantar keratoderma MONDO:0006590 DOID:0081105 DOID:3390 palmoplantar keratosis +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0000429 DOID:0050629 DOID:0050739 autosomal genetic disease +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0002254 DOID:0050629 DOID:225 syndromic disease +MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0018874 DOID:0081082 DOID:9119 acute myeloid leukemia +MONDO:0018872 acute megakaryoblastic leukemia MONDO:0018874 DOID:8761 DOID:9119 acute myeloid leukemia +MONDO:0018875 Li-Fraumeni syndrome MONDO:0002254 DOID:3012 DOID:225 syndromic disease +MONDO:0018876 mantle cell lymphoma MONDO:0004095 DOID:0050746 DOID:707 B-cell neoplasm +MONDO:0018906 follicular lymphoma MONDO:0004095 DOID:0050873 DOID:707 B-cell neoplasm +MONDO:0018911 maturity-onset diabetes of the young MONDO:0005015 DOID:0050524 DOID:9351 diabetes mellitus +MONDO:0018920 peripartum cardiomyopathy MONDO:0005021 DOID:9997 DOID:12930 dilated cardiomyopathy +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0019248 DOID:0080071 DOID:0080488 mucolipidosis +MONDO:0018943 myofibrillar myopathy MONDO:0005336 DOID:0080307 DOID:423 myopathy +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0004736 DOID:0050710 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0018958 nemaline myopathy MONDO:0019952 DOID:3191 DOID:0081337 congenital myopathy +MONDO:0018992 IgG4-related thyroid disease MONDO:0004126 DOID:14351 DOID:7166 thyroiditis +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0015244 DOID:0050755 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0018997 Noonan syndrome MONDO:0021060 DOID:3490 DOID:0080690 RASopathy +MONDO:0018998 Leber congenital amaurosis MONDO:0005283 DOID:14791 DOID:5679 retinal disorder +MONDO:0019005 nephronophthisis MONDO:0005240 DOID:12712 DOID:557 kidney disorder +MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0019072 DOID:0070230 DOID:1852 intrahepatic cholestasis +MONDO:0019012 Carpenter syndrome MONDO:0019796 DOID:0060234 DOID:12960 acrocephalosyndactyly +MONDO:0019023 cutaneous mastocytosis MONDO:0005093 DOID:3663 DOID:37 skin disorder +MONDO:0019024 mast cell sarcoma MONDO:0002724 DOID:355 DOID:3664 mast cell neoplasm +MONDO:0019025 extracutaneous mastocytoma MONDO:0002724 DOID:4659 DOID:3664 mast cell neoplasm +MONDO:0019065 amyloidosis MONDO:0005066 DOID:9120 DOID:0014667 metabolic disease +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MONDO:0002254 DOID:0111360 DOID:225 syndromic disease +MONDO:0019086 carcinoma of esophagus MONDO:0004993 DOID:1107 DOID:305 carcinoma +MONDO:0019087 cholangiocarcinoma MONDO:0003193 DOID:4947 DOID:4896 bile duct adenocarcinoma +MONDO:0019107 Rh deficiency syndrome MONDO:0003664 DOID:0050641 DOID:583 hemolytic anemia +MONDO:0019118 inherited retinal dystrophy MONDO:0005328 DOID:8501 DOID:5614 eye disorder +MONDO:0019121 pneumocystosis MONDO:0005275 DOID:11339 DOID:850 lung disorder +MONDO:0019122 idiopathic acute eosinophilic pneumonia MONDO:0005749 DOID:9503 DOID:5870 eosinophilic pneumonia +MONDO:0019127 polymyositis MONDO:0021167 DOID:0080745 DOID:633 myositis disease +MONDO:0019142 inherited porphyria MONDO:0019052 DOID:13268 DOID:655 inborn errors of metabolism +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:0002305 DOID:3756 DOID:2452 thrombophilia +MONDO:0019154 androgen insensitivity syndrome MONDO:0002145 DOID:4674 DOID:1923 disorder of sexual differentiation +MONDO:0019159 Loeffler endocarditis MONDO:0005201 DOID:396 DOID:397 restrictive cardiomyopathy +MONDO:0019165 central precocious puberty MONDO:0005151 DOID:0112308 DOID:28 endocrine system disorder +MONDO:0019168 pyomyositis MONDO:0021167 DOID:876 DOID:633 myositis disease +MONDO:0019170 polyarteritis nodosa MONDO:0018882 DOID:9810 DOID:865 vasculitis +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0005385 DOID:1270 DOID:178 vascular disorder +MONDO:0019181 non-syndromic X-linked intellectual disability MONDO:0000425 DOID:0050776 DOID:0050735 X-linked disease +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0000426 DOID:1933 DOID:0050736 autosomal dominant disease +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0002254 DOID:1933 DOID:225 syndromic disease +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0007179 DOID:12900 DOID:417 autoimmune disease +MONDO:0019200 retinitis pigmentosa MONDO:0004580 DOID:10584 DOID:8466 retinal degeneration +MONDO:0019202 myxofibrosarcoma MONDO:0005089 DOID:0080534 DOID:1115 sarcoma +MONDO:0019209 Japanese encephalitis MONDO:0005108 DOID:10844 DOID:934 viral infectious disease +MONDO:0019209 Japanese encephalitis MONDO:0005560 DOID:10844 DOID:936 brain disorder +MONDO:0019238 inborn disorder of pyrimidine metabolism MONDO:0019052 DOID:0050832 DOID:655 inborn errors of metabolism +MONDO:0019266 SAPHO syndrome MONDO:0002254 DOID:13677 DOID:225 syndromic disease +MONDO:0019269 ichthyosis MONDO:0005093 DOID:1697 DOID:37 skin disorder +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0017612 DOID:0060738 DOID:3209 junctional epidermolysis bullosa +MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0002254 DOID:3753 DOID:225 syndromic disease +MONDO:0019313 lymphatic malformation MONDO:0019297 DOID:0050580 DOID:4977 lymphedema +MONDO:0019347 peeling skin syndrome MONDO:0005093 DOID:0060283 DOID:37 skin disorder +MONDO:0019376 West-Nile encephalitis MONDO:0005108 DOID:2365 DOID:934 viral infectious disease +MONDO:0019376 West-Nile encephalitis MONDO:0005560 DOID:2365 DOID:936 brain disorder +MONDO:0019378 la Crosse encephalitis MONDO:0005108 DOID:0050118 DOID:934 viral infectious disease +MONDO:0019378 la Crosse encephalitis MONDO:0005560 DOID:0050118 DOID:936 brain disorder +MONDO:0019380 western equine encephalitis MONDO:0005108 DOID:10843 DOID:934 viral infectious disease +MONDO:0019380 western equine encephalitis MONDO:0005560 DOID:10843 DOID:936 brain disorder +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0005156 DOID:639 DOID:640 encephalomyelitis +MONDO:0019384 encephalitis lethargica MONDO:0019956 DOID:5225 DOID:9588 encephalitis +MONDO:0019438 AL amyloidosis MONDO:0005267 DOID:0080933 DOID:114 heart disorder +MONDO:0019444 trichinellosis MONDO:0004664 DOID:9784 DOID:883 helminthiasis +MONDO:0019458 acute basophilic leukemia MONDO:0018874 DOID:0080795 DOID:9119 acute myeloid leukemia +MONDO:0019470 aggressive NK-cell leukemia MONDO:0005059 DOID:1035 DOID:1240 leukemia +MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0005108 DOID:0050523 DOID:934 viral infectious disease +MONDO:0019480 Langerhans cell sarcoma MONDO:0004805 DOID:7146 DOID:9500 leukocyte disorder +MONDO:0019480 Langerhans cell sarcoma MONDO:0005089 DOID:7146 DOID:1115 sarcoma +MONDO:0019480 Langerhans cell sarcoma MONDO:0006247 DOID:7146 DOID:5621 histiocytic and dendritic cell neoplasm +MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0002409 DOID:0050563 DOID:2742 auditory system disorder +MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO:0001071 DOID:0060308 DOID:1059 intellectual disability +MONDO:0019508 van der Woude syndrome MONDO:0002254 DOID:0060239 DOID:225 syndromic disease +MONDO:0019526 erythema elevatum diutinum MONDO:0018882 DOID:0060567 DOID:865 vasculitis +MONDO:0019538 Gaisbock syndrome MONDO:0002438 DOID:2838 DOID:2834 acquired polycythemia +MONDO:0019557 chilblain lupus MONDO:0005282 DOID:0060386 DOID:0050169 cutaneous lupus erythematosus +MONDO:0019565 hereditary von Willebrand disease MONDO:0001531 DOID:12531 DOID:1247 blood coagulation disease +MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 MONDO:0000426 DOID:14720 DOID:0050736 autosomal dominant disease +MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 MONDO:0020066 DOID:14720 DOID:13359 Ehlers-Danlos syndrome +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 MONDO:0000426 DOID:0080726 DOID:0050736 autosomal dominant disease +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 MONDO:0020066 DOID:0080726 DOID:13359 Ehlers-Danlos syndrome +MONDO:0019571 autosomal dominant cutis laxa MONDO:0016175 DOID:0070142 DOID:3144 cutis laxa +MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0016175 DOID:0070144 DOID:3144 cutis laxa +MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0000425 DOID:0050566 DOID:0050735 X-linked disease +MONDO:0019591 panhypopituitarism MONDO:0005152 DOID:9410 DOID:9406 hypopituitarism +MONDO:0019609 Zellweger spectrum disorders MONDO:0006025 DOID:905 DOID:0050737 autosomal recessive disease +MONDO:0019610 Zollinger-Ellison syndrome MONDO:0002254 DOID:0050782 DOID:225 syndromic disease +MONDO:0019669 hypochondrogenesis MONDO:0005516 DOID:0080044 DOID:2256 osteochondrodysplasia +MONDO:0019719 congenital anomaly of kidney and urinary tract MONDO:0002118 DOID:0080205 DOID:18 urinary system disorder +MONDO:0019773 myelomeningocele MONDO:0002545 DOID:0060326 DOID:319 spinal cord disorder +MONDO:0019773 myelomeningocele MONDO:0008449 DOID:0060326 DOID:0080016 spina bifida +MONDO:0019796 acrocephalosyndactyly MONDO:0001411 DOID:12960 DOID:11971 synostosis +MONDO:0019799 hepatoerythropoietic porphyria MONDO:0002520 DOID:5230 DOID:3133 hepatic porphyria +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance MONDO:0019155 DOID:0112260 DOID:0112259 Leydig cell hypoplasia +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance MONDO:0019155 DOID:0112261 DOID:0112259 Leydig cell hypoplasia +MONDO:0019947 rippling muscle disease 2 MONDO:0003939 DOID:0060255 DOID:66 muscle tissue disorder +MONDO:0019948 reducing body myopathy MONDO:0005336 DOID:0080090 DOID:423 myopathy +MONDO:0019960 VIPoma MONDO:0019496 DOID:5574 DOID:169 neuroendocrine neoplasm +MONDO:0019962 thyroid lymphoma MONDO:0005062 DOID:10011 DOID:0060058 lymphoma +MONDO:0020068 postinfectious encephalitis MONDO:0019956 DOID:10993 DOID:9588 encephalitis +MONDO:0020119 X-linked syndromic intellectual disability MONDO:0000425 DOID:0060309 DOID:0050735 X-linked disease +MONDO:0020310 familial focal epilepsy with variable foci MONDO:0005384 DOID:0081420 DOID:2234 focal epilepsy +MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0018874 DOID:0081087 DOID:9119 acute myeloid leukemia +MONDO:0020322 acute biphenotypic leukemia MONDO:0010643 DOID:9953 DOID:12603 acute leukemia +MONDO:0020325 anaplastic large cell lymphoma MONDO:0018908 DOID:0050744 DOID:0060060 non-Hodgkin lymphoma +MONDO:0020334 mast cell leukemia MONDO:0002724 DOID:9254 DOID:3664 mast cell neoplasm +MONDO:0020340 bilateral perisylvian polymicrogyria MONDO:0000087 DOID:0080924 DOID:0080918 polymicrogyria +MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0018102 DOID:0060457 DOID:2566 corneal dystrophy +MONDO:0020380 autosomal dominant cerebellar ataxia MONDO:0000437 DOID:1441 DOID:0050753 cerebellar ataxia +MONDO:0020460 acquired von willebrand syndrome MONDO:0001531 DOID:0111146 DOID:1247 blood coagulation disease +MONDO:0020496 familial porencephaly MONDO:0005560 DOID:0112313 DOID:936 brain disorder +MONDO:0020499 Nipah virus disease MONDO:0005108 DOID:0050192 DOID:934 viral infectious disease +MONDO:0020500 Marburg hemorrhagic fever MONDO:0005108 DOID:4327 DOID:934 viral infectious disease +MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0005108 DOID:12287 DOID:934 viral infectious disease +MONDO:0020502 yellow fever MONDO:0005108 DOID:9682 DOID:934 viral infectious disease +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0005062 DOID:0080638 DOID:0060058 lymphoma +MONDO:0020513 spermatocytic seminoma MONDO:0005040 DOID:5834 DOID:2994 germ cell tumor +MONDO:0020513 spermatocytic seminoma MONDO:0005447 DOID:5834 DOID:2998 testicular cancer +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 MONDO:0002254 DOID:0060248 DOID:225 syndromic disease +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0019701 DOID:0080352 DOID:2581 chondrodysplasia punctata +MONDO:0020642 polycystic kidney disease MONDO:0002473 DOID:0080322 DOID:2975 cystic kidney disease +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 MONDO:0020066 DOID:0080736 DOID:13359 Ehlers-Danlos syndrome +MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 MONDO:0020066 DOID:0080738 DOID:13359 Ehlers-Danlos syndrome +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 MONDO:0020066 DOID:0080986 DOID:13359 Ehlers-Danlos syndrome +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive MONDO:0000359 DOID:0112365 DOID:0050568 spondylocostal dysostosis +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive MONDO:0006025 DOID:0112365 DOID:0050737 autosomal recessive disease +MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0015194 DOID:0060063 DOID:8955 sideroblastic anemia +MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 MONDO:0008171 DOID:0080652 DOID:585 nephrolithiasis +MONDO:0020723 vitamin D-dependent rickets, type 1A MONDO:0024299 DOID:0080886 DOID:0080883 vitamin D-dependent rickets +MONDO:0020724 cerebral cavernous malformation 1 MONDO:0000820 DOID:0080491 DOID:0060669 cerebral cavernous malformation +MONDO:0020727 combined oxidative phosphorylation deficiency 22 MONDO:0000732 DOID:0111498 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0020729 autosomal recessive agammaglobulinemia 1 MONDO:0015977 DOID:0081136 DOID:2583 agammaglobulinemia +MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0003608 DOID:0111434 DOID:5723 optic atrophy +MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B MONDO:0006025 DOID:0081322 DOID:0050737 autosomal recessive disease +MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B MONDO:0017415 DOID:0081322 DOID:0080110 multiple pterygium syndrome +MONDO:0020753 Orthocoronavirinae infectious disease MONDO:0005108 DOID:0080599 DOID:934 viral infectious disease +MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0015244 DOID:0070465 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 MONDO:0005181 DOID:0111524 DOID:12558 progressive external ophthalmoplegia +MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0003036 DOID:0081293 DOID:4531 mucoepidermoid carcinoma +MONDO:0021022 hereditary hyperekplexia MONDO:0005071 DOID:0060695 DOID:863 nervous system disorder +MONDO:0021063 malignant colon neoplasm MONDO:0003409 DOID:219 DOID:5353 colonic disorder +MONDO:0021097 intraductal breast papilloma MONDO:0002363 DOID:1626 DOID:2615 papilloma +MONDO:0021115 luminal B breast carcinoma MONDO:0004989 DOID:0080674 DOID:3459 breast carcinoma +MONDO:0021439 benign neoplasm of pituitary gland MONDO:0003381 DOID:60009 DOID:53 pituitary gland disorder +MONDO:0021443 benign neoplasm of lymph node MONDO:0004928 DOID:0080617 DOID:9942 lymph node disorder +MONDO:0021463 benign neoplasm of parathyroid gland MONDO:0001223 DOID:60008 DOID:11201 parathyroid gland disorder +MONDO:0021503 benign neoplasm of gallbladder MONDO:0005281 DOID:0080640 DOID:0060262 gallbladder disorder +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant MONDO:0000426 DOID:0070247 DOID:0050736 autosomal dominant disease +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant MONDO:0016830 DOID:0070247 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0022519 autoimmune myocarditis MONDO:0000603 DOID:0080767 DOID:0060051 autoimmune disorder of cardiovascular system +MONDO:0022687 cerebellar degeneration MONDO:0005560 DOID:1443 DOID:936 brain disorder +MONDO:0023419 hyperprolinemia MONDO:0004736 DOID:0080541 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0024240 eccrine carcinoma MONDO:0004970 DOID:4920 DOID:299 adenocarcinoma +MONDO:0024245 ductal eccrine adenocarcinoma MONDO:0002206 DOID:5570 DOID:2095 sweat gland cancer +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 MONDO:0018612 DOID:0070124 DOID:0050328 congenital hypothyroidism +MONDO:0024268 superficial mycosis MONDO:0002041 DOID:0050133 DOID:1564 fungal infectious disease +MONDO:0024331 colorectal carcinoma MONDO:0004993 DOID:0080199 DOID:305 carcinoma +MONDO:0024358 complex sleep apnea MONDO:0005296 DOID:0080302 DOID:0050847 sleep apnea syndrome +MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type MONDO:0003406 DOID:0111141 DOID:535 sleep-wake disorder +MONDO:0024455 autosomal dominant Robinow syndrome 1 MONDO:0000426 DOID:0060766 DOID:0050736 autosomal dominant disease +MONDO:0024455 autosomal dominant Robinow syndrome 1 MONDO:0019978 DOID:0060766 DOID:0060254 Robinow syndrome +MONDO:0024456 anterior segment dysgenesis 3 MONDO:0019503 DOID:0080608 DOID:0060648 anterior segment dysgenesis +MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0018307 DOID:0110735 DOID:0110734 neurodegeneration with brain iron accumulation +MONDO:0024472 boutonneuse fever MONDO:0001195 DOID:14095 DOID:11104 spotted fever +MONDO:0024473 Astrakhan spotted fever MONDO:0001195 DOID:0050041 DOID:11104 spotted fever +MONDO:0024507 aniridia 1 MONDO:0019172 DOID:0070532 DOID:12271 aniridia +MONDO:0024522 amyloidosis, primary localized cutaneous, 1 MONDO:0015301 DOID:0080930 DOID:0050639 primary cutaneous amyloidosis +MONDO:0024525 Fanconi renotubular syndrome 1 MONDO:0001083 DOID:0080757 DOID:1062 Fanconi renotubular syndrome +MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0000426 DOID:0111521 DOID:0050736 autosomal dominant disease +MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0005181 DOID:0111521 DOID:12558 progressive external ophthalmoplegia +MONDO:0024548 peeling skin syndrome 1 MONDO:0019347 DOID:0070520 DOID:0060283 peeling skin syndrome +MONDO:0024569 optic atrophy 8 MONDO:0000426 DOID:0111439 DOID:0050736 autosomal dominant disease +MONDO:0024569 optic atrophy 8 MONDO:0003608 DOID:0111439 DOID:5723 optic atrophy +MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0006816 DOID:9898 DOID:381 arthropathy +MONDO:0025193 oculopharyngodistal myopathy MONDO:0005336 DOID:0081296 DOID:423 myopathy +MONDO:0025598 pneumonia caused by chlamydia MONDO:0004652 DOID:0040083 DOID:874 bacterial pneumonia +MONDO:0025691 dystonia 30 MONDO:0003441 DOID:0060937 DOID:543 dystonic disorder +MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 MONDO:0018612 DOID:0111837 DOID:0050328 congenital hypothyroidism +MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 MONDO:0018612 DOID:0111835 DOID:0050328 congenital hypothyroidism +MONDO:0026777 VEXAS syndrome MONDO:0002254 DOID:0080828 DOID:225 syndromic disease +MONDO:0027694 amyotrophic lateral sclerosis type 23 MONDO:0004976 DOID:0080225 DOID:332 amyotrophic lateral sclerosis +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0015131 DOID:0111984 DOID:628 combined immunodeficiency +MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:0006025 DOID:0112382 DOID:0050737 autosomal recessive disease +MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:0018276 DOID:0112382 DOID:0112374 muscular dystrophy-dystroglycanopathy +MONDO:0030056 Fanconi renotubular syndrome 5 MONDO:0001083 DOID:0080761 DOID:1062 Fanconi renotubular syndrome +MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 MONDO:0016587 DOID:0080959 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0030073 Mitchell syndrome MONDO:0019053 DOID:0070516 DOID:906 peroxisomal disease +MONDO:0030300 cardiomyopathy, dilated, 2D MONDO:0005021 DOID:0081160 DOID:12930 dilated cardiomyopathy +MONDO:0030366 cardiomyopathy, dilated, 2E MONDO:0005021 DOID:0081161 DOID:12930 dilated cardiomyopathy +MONDO:0030455 dystonia 31 MONDO:0003441 DOID:0060938 DOID:543 dystonic disorder +MONDO:0030482 spastic paraplegia 84, autosomal recessive MONDO:0019064 DOID:0112347 DOID:2476 hereditary spastic paraplegia +MONDO:0030486 dystonia 32 MONDO:0003441 DOID:0060939 DOID:543 dystonic disorder +MONDO:0030512 spastic paraplegia 85, autosomal recessive MONDO:0019064 DOID:0112345 DOID:2476 hereditary spastic paraplegia +MONDO:0030513 dystonia 33 MONDO:0003441 DOID:0060940 DOID:543 dystonic disorder +MONDO:0030538 dystonia 34, myoclonic MONDO:0003441 DOID:0060957 DOID:543 dystonic disorder +MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0002367 DOID:7571 DOID:263 kidney cancer +MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0019064 DOID:0112342 DOID:2476 hereditary spastic paraplegia +MONDO:0030680 cardiomyopathy, dilated, 2F MONDO:0005021 DOID:0081162 DOID:12930 dilated cardiomyopathy +MONDO:0030701 autoimmune cardiomyopathy MONDO:0005267 DOID:0040095 DOID:114 heart disorder +MONDO:0030860 neuronopathy, distal hereditary motor, type 5C MONDO:0015362 DOID:0081401 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0030870 premature ovarian failure 17 MONDO:0005387 DOID:0080874 DOID:5426 primary ovarian failure +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0004976 DOID:0081380 DOID:332 amyotrophic lateral sclerosis +MONDO:0030887 cardiomyopathy, dilated, 2G MONDO:0005021 DOID:0081163 DOID:12930 dilated cardiomyopathy +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 MONDO:0006025 DOID:0060919 DOID:0050737 autosomal recessive disease +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 MONDO:0006025 DOID:0060915 DOID:0050737 autosomal recessive disease +MONDO:0030939 premature ovarian failure 18 MONDO:0005387 DOID:0112269 DOID:5426 primary ovarian failure +MONDO:0030958 dystonia 35, childhood-onset MONDO:0003441 DOID:0060955 DOID:543 dystonic disorder +MONDO:0030985 premature ovarian failure 19 MONDO:0005387 DOID:0112278 DOID:5426 primary ovarian failure +MONDO:0031012 autoimmune uveitis MONDO:0002661 DOID:0040088 DOID:3480 uveal disorder +MONDO:0031014 autoimmune gastritis MONDO:0004298 DOID:0040090 DOID:76 stomach disorder +MONDO:0031043 lymphatic malformation 12 MONDO:0005833 DOID:0081030 DOID:75 lymphatic system disorder +MONDO:0031332 Glanzmann thrombasthenia 1 MONDO:0000009 DOID:2219 DOID:2218 inherited bleeding disorder, platelet-type +MONDO:0031421 Olmsted syndrome MONDO:0006566 DOID:0112011 DOID:161 keratosis +MONDO:0032592 cardiomyopathy, dilated, 2c MONDO:0005021 DOID:0081159 DOID:12930 dilated cardiomyopathy +MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:0018838 DOID:0112228 DOID:0050453 lissencephaly spectrum disorders +MONDO:0032756 long qt syndrome 8 MONDO:0002442 DOID:0110649 DOID:2843 long QT syndrome +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0018612 DOID:0111836 DOID:0050328 congenital hypothyroidism +MONDO:0032881 premature ovarian failure 16 MONDO:0005387 DOID:0080873 DOID:5426 primary ovarian failure +MONDO:0032915 long QT syndrome 16 MONDO:0002442 DOID:0070533 DOID:2843 long QT syndrome +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0000762 DOID:0070470 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0033005 Galloway-Mowat syndrome 1 MONDO:0006025 DOID:0060364 DOID:0050737 autosomal recessive disease +MONDO:0033007 Galloway-Mowat syndrome 3 MONDO:0006025 DOID:0080245 DOID:0050737 autosomal recessive disease +MONDO:0033008 Galloway-Mowat syndrome 4 MONDO:0006025 DOID:0080246 DOID:0050737 autosomal recessive disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0006025 DOID:0080252 DOID:0050737 autosomal recessive disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0017845 DOID:0080252 DOID:0050952 spastic ataxia +MONDO:0033046 Meier-Gorlin syndrome 8 MONDO:0006025 DOID:0080255 DOID:0050737 autosomal recessive disease +MONDO:0033480 spinocerebellar ataxia 45 MONDO:0020380 DOID:0080287 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0033481 spinocerebellar ataxia 46 MONDO:0020380 DOID:0080288 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0033549 optic atrophy 12 MONDO:0003608 DOID:0080840 DOID:5723 optic atrophy +MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:0015131 DOID:0112061 DOID:0111962 combined immunodeficiency +MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:0015131 DOID:0112062 DOID:0111962 combined immunodeficiency +MONDO:0042487 uterine cervix carcinoma in situ MONDO:0002256 DOID:8991 DOID:2253 cervix disorder +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant MONDO:0000426 DOID:0080625 DOID:0050736 autosomal dominant disease +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant MONDO:0018542 DOID:0080625 DOID:0050590 severe congenital neutropenia +MONDO:0043275 TORCH syndrome MONDO:0002254 DOID:0080835 DOID:225 syndromic disease +MONDO:0044210 thalassemia minor MONDO:0019402 DOID:0080774 DOID:12241 beta thalassemia +MONDO:0044317 premature ovarian failure 13 MONDO:0005387 DOID:0080870 DOID:5426 primary ovarian failure +MONDO:0044329 osteogenesis imperfecta, type 18 MONDO:0019019 DOID:0111848 DOID:12347 osteogenesis imperfecta +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0019064 DOID:0112349 DOID:2476 hereditary spastic paraplegia +MONDO:0044762 diarrheal disease secondary to increased bowel motility MONDO:0001673 DOID:0050131 DOID:13250 diarrheal disease +MONDO:0044776 premature ovarian failure 10 MONDO:0005387 DOID:0080867 DOID:5426 primary ovarian failure +MONDO:0044777 premature ovarian failure 14 MONDO:0005387 DOID:0080871 DOID:5426 primary ovarian failure +MONDO:0044789 digital papillary eccrine carcinoma MONDO:0004970 DOID:5590 DOID:299 adenocarcinoma +MONDO:0044789 digital papillary eccrine carcinoma MONDO:0005524 DOID:5590 DOID:5667 sweat gland carcinoma +MONDO:0044792 large congenital melanocytic nevus MONDO:0005093 DOID:0111359 DOID:37 skin disorder +MONDO:0049223 osteogenesis imperfecta, type 19 MONDO:0019019 DOID:0111847 DOID:12347 osteogenesis imperfecta +MONDO:0054549 peroxisome biogenesis disorder 10B MONDO:0006025 DOID:0081440 DOID:0050737 autosomal recessive disease +MONDO:0054549 peroxisome biogenesis disorder 10B MONDO:0019234 DOID:0081440 DOID:0080377 peroxisome biogenesis disorder +MONDO:0054593 microcephaly 18, primary, autosomal dominant MONDO:0000426 DOID:0070295 DOID:0050736 autosomal dominant disease +MONDO:0054593 microcephaly 18, primary, autosomal dominant MONDO:0016056 DOID:0070295 DOID:0070297 isolated congenital microcephaly +MONDO:0054601 pituitary adenoma 5, multiple types MONDO:0006373 DOID:0112008 DOID:3829 pituitary gland adenoma +MONDO:0054665 pituitary adenoma 3, multiple types MONDO:0006373 DOID:0112010 DOID:3829 pituitary gland adenoma +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 MONDO:0006025 DOID:0060916 DOID:0050737 autosomal recessive disease +MONDO:0054862 premature ovarian failure 15 MONDO:0005387 DOID:0080872 DOID:5426 primary ovarian failure +MONDO:0056798 disorder of appendix MONDO:0004335 DOID:60000 DOID:77 digestive system disorder +MONDO:0100017 pityriasis rubra pilaris MONDO:0005093 DOID:9212 DOID:37 skin disorder +MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia MONDO:0004736 DOID:0060950 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0005559 DOID:0070352 DOID:1289 neurodegenerative disease +MONDO:0100130 adult acute respiratory distress syndrome MONDO:0021113 DOID:11394 DOID:11162 respiratory failure +MONDO:0100133 mitochondrial complex I deficiency MONDO:0004069 DOID:0060536 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0006025 DOID:0112225 DOID:0050737 autosomal recessive disease +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0002254 DOID:0080836 DOID:225 syndromic disease +MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0002254 DOID:0111821 DOID:225 syndromic disease +MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MONDO:0002254 DOID:0080837 DOID:225 syndromic disease +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0002123 DOID:0111063 DOID:182 calcinosis +MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0004095 DOID:0060901 DOID:707 B-cell neoplasm +MONDO:0100288 enhanced S-cone syndrome MONDO:0005283 DOID:0090059 DOID:5679 retinal disorder +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0004069 DOID:0060537 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0100316 long QT syndrome 1 MONDO:0002442 DOID:0110644 DOID:2843 long QT syndrome +MONDO:0100339 Friedreich ataxia MONDO:0015244 DOID:12705 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0100342 malignant glioma MONDO:0004992 DOID:3070 DOID:0050687 cancer +MONDO:0100349 COACH syndrome MONDO:0006025 DOID:0111589 DOID:0050737 autosomal recessive disease +MONDO:0100352 episodic kinesigenic dyskinesia 1 MONDO:0003441 DOID:0090053 DOID:543 dystonic disorder +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0002254 DOID:0060610 DOID:225 syndromic disease +MONDO:0100435 Schwartz-Jampel syndrome type 1 MONDO:0002254 DOID:0090005 DOID:225 syndromic disease +MONDO:0100435 Schwartz-Jampel syndrome type 1 MONDO:0006025 DOID:0090005 DOID:0050737 autosomal recessive disease +MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0004860 DOID:9719 DOID:9720 vitreous disorder +MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0005283 DOID:9719 DOID:5679 retinal disorder +MONDO:0100514 familial ovarian carcinoma MONDO:0002229 DOID:6901 DOID:2152 ovarian epithelial tumor +MONDO:0100522 hypotrichosis 4 MONDO:0003037 DOID:0110701 DOID:4535 hypotrichosis +MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 DOID:0070246 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0700081 newborn respiratory distress syndrome MONDO:0021113 DOID:12716 DOID:11162 respiratory failure +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0003441 DOID:0090049 DOID:543 dystonic disorder +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy +MONDO:0800029 interstitial lung disease 2 MONDO:0015925 DOID:0060971 DOID:3082 interstitial lung disease +MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0002049 DOID:0090102 DOID:1588 thrombocytopenia +MONDO:0800368 cardiomyopathy, dilated, 1MM MONDO:0005021 DOID:0081158 DOID:12930 dilated cardiomyopathy +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0000426 DOID:0050676 DOID:0050736 autosomal dominant disease +MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0002049 DOID:0090118 DOID:1588 thrombocytopenia +MONDO:0850154 tongue carcinoma MONDO:0004993 DOID:0080641 DOID:305 carcinoma +MONDO:0850345 lung pleomorphic carcinoma MONDO:0008903 DOID:0080899 DOID:1324 lung cancer +MONDO:0850347 bladder sarcomatoid transitional cell carcinoma MONDO:0001187 DOID:0080901 DOID:11054 urinary bladder cancer +MONDO:0850415 rhabdomyolysis-myalgia syndrome MONDO:0005336 DOID:0080992 DOID:423 myopathy +MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype MONDO:0100342 DOID:0081277 DOID:3070 malignant glioma +MONDO:0858950 traumatic brain injury MONDO:0005560 DOID:0081292 DOID:936 brain disorder +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0005093 DOID:0070510 DOID:37 skin disorder +MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0003441 DOID:0060944 DOID:543 dystonic disorder +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile MONDO:0004976 DOID:0081381 DOID:332 amyotrophic lateral sclerosis +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 MONDO:0000426 DOID:0081371 DOID:0050736 autosomal dominant disease +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 MONDO:0000426 DOID:0081372 DOID:0050736 autosomal dominant disease +MONDO:0957385 dystonia 37, early-onset, with striatal lesions MONDO:0003441 DOID:0060956 DOID:543 dystonic disorder +MONDO:0957538 amyotrophic lateral sclerosis 28 MONDO:0004976 DOID:0081382 DOID:332 amyotrophic lateral sclerosis +MONDO:0957539 dystonia 22, juvenile-onset MONDO:0003441 DOID:0060966 DOID:543 dystonic disorder +MONDO:0957542 dystonia 22, adult-onset MONDO:0003441 DOID:0060967 DOID:543 dystonic disorder +MONDO:0968949 palmoplantar keratoderma, epidermolytic MONDO:0006590 DOID:0080223 DOID:3390 palmoplantar keratosis +MONDO:8000008 Martsolf syndrome 1 MONDO:0002254 DOID:0111586 DOID:225 syndromic disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index bb9dde06..1b8ae385 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -1332,7 +1332,6 @@ MONDO:0002220 tooth hard tissue disease MONDO:0006999 DOID:214 DOID:1091 tooth d MONDO:0002221 urethral urothelial papilloma MONDO:0004177 DOID:2140 DOID:730 benign urethral neoplasm MONDO:0002222 urethra leiomyoma MONDO:0001572 DOID:2142 DOID:127 leiomyoma MONDO:0002222 urethra leiomyoma MONDO:0004177 DOID:2142 DOID:730 benign urethral neoplasm -MONDO:0002223 ovarian malignant mesothelioma MONDO:0006292 DOID:2143 DOID:1790 malignant mesothelioma MONDO:0002223 ovarian malignant mesothelioma MONDO:0008170 DOID:2143 DOID:2394 ovarian cancer MONDO:0002224 malignant ovarian cyst MONDO:0008170 DOID:2145 DOID:2394 ovarian cancer MONDO:0002225 ovarian sarcoma MONDO:0008170 DOID:2146 DOID:2394 ovarian cancer @@ -2385,7 +2384,6 @@ MONDO:0003802 cornea cancer MONDO:0002236 DOID:6199 DOID:2174 ocular cancer MONDO:0003803 aortic valve disorder MONDO:0002869 DOID:62 DOID:4079 heart valve disorder MONDO:0003803 aortic valve disorder MONDO:0005561 DOID:62 DOID:520 aortic disorder MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 DOID:6201 DOID:116 pericardium cancer -MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 DOID:6201 DOID:1790 malignant mesothelioma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 DOID:6208 DOID:4050 mediastinum sarcoma MONDO:0003810 bladder diffuse clear cell adenocarcinoma MONDO:0003386 DOID:6210 DOID:5306 bladder clear cell adenocarcinoma MONDO:0003812 ovarian endometrial cancer MONDO:0002480 DOID:6212 DOID:3001 endometrioid tumor @@ -2544,7 +2542,6 @@ MONDO:0004026 skin tag MONDO:0006603 DOID:6873 DOID:2053 reactive cutaneous fibr MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 DOID:6880 DOID:5272 small intestinal sarcoma MONDO:0004028 small intestinal fibrosarcoma MONDO:0005164 DOID:6880 DOID:3355 fibrosarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 DOID:6888 DOID:4939 ureter carcinoma -MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 DOID:6898 DOID:4001 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 DOID:6903 DOID:2174 ocular cancer MONDO:0004034 eye lymphoma MONDO:0005062 DOID:6903 DOID:0060058 lymphoma MONDO:0004035 glomangiomatosis MONDO:0003342 DOID:6906 DOID:5238 benign perivascular tumor @@ -3312,7 +3309,6 @@ MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 DOID:3907 DOID:1749 squ MONDO:0005100 systemic sclerosis MONDO:0019340 DOID:418 DOID:419 scleroderma MONDO:0005101 ulcerative colitis MONDO:0005292 DOID:8577 DOID:0060180 colitis MONDO:0005108 viral infectious disease MONDO:0005550 DOID:934 DOID:0050117 infectious disease -MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 DOID:7474 DOID:1790 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 DOID:7474 DOID:5158 pleural cancer MONDO:0005113 bacterial infectious disease MONDO:0005550 DOID:104 DOID:0050117 infectious disease MONDO:0005116 Whipple disease MONDO:0005020 DOID:8476 DOID:5295 intestinal disorder @@ -3471,7 +3467,6 @@ MONDO:0005508 hereditary multiple osteochondromas MONDO:0002181 DOID:206 DOID:20 MONDO:0005510 hydronephrosis MONDO:0003330 DOID:11111 DOID:5200 urinary tract obstruction MONDO:0005511 janus kinase-3 deficiency MONDO:0015974 DOID:0060008 DOID:627 severe combined immunodeficiency MONDO:0005512 malignant peritoneal mesothelioma MONDO:0002087 DOID:1788 DOID:1725 peritoneum cancer -MONDO:0005512 malignant peritoneal mesothelioma MONDO:0006292 DOID:1788 DOID:1790 malignant mesothelioma MONDO:0005514 nanophthalmia MONDO:0021129 DOID:0080634 DOID:10629 microphthalmia MONDO:0005515 oral cavity cancer MONDO:0002516 DOID:8618 DOID:3119 digestive system cancer MONDO:0005516 osteochondrodysplasia MONDO:0005497 DOID:2256 DOID:0080006 bone development disease @@ -4537,6 +4532,7 @@ MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0004680 DOID:8924 DOID:8 MONDO:0008585 HELLP syndrome MONDO:0001641 DOID:13133 DOID:13129 severe pre-eclampsia MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 DOID:0111428 DOID:4990 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0000426 DOID:14743 DOID:0050736 autosomal dominant disease +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0000426 DOID:0080376 DOID:0050736 autosomal dominant disease MONDO:0008599 trigeminal neuralgia MONDO:0003543 DOID:12098 DOID:561 trigeminal nerve disorder MONDO:0008610 blue color blindness MONDO:0001703 DOID:11661 DOID:13399 color vision disorder MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 DOID:0080324 DOID:13515 tuberous sclerosis @@ -5561,6 +5557,7 @@ MONDO:0011945 Gaucher disease perinatal lethal MONDO:0018150 DOID:0110960 DOID:1 MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 DOID:0060272 DOID:0060264 pontocerebellar hypoplasia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 DOID:0111617 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 DOID:0070517 DOID:0070438 macular dystrophy, retinal +MONDO:0011959 sweet syndrome MONDO:0005093 DOID:0080746 DOID:37 skin disorder MONDO:0011960 schizophrenia 11 MONDO:0005090 DOID:0070087 DOID:5419 schizophrenia MONDO:0011962 endometrial cancer MONDO:0002715 DOID:1380 DOID:363 uterine cancer MONDO:0011963 Joubert syndrome 2 MONDO:0018772 DOID:0110988 DOID:0050777 Joubert syndrome @@ -7887,7 +7884,6 @@ MONDO:0100452 RPE65-related dominant retinopathy MONDO:0000426 DOID:0112144 DOID MONDO:0100459 azoospermia MONDO:0005372 DOID:14227 DOID:12336 male infertility MONDO:0100510 spondyloepimetaphyseal dysplasia MONDO:0005516 DOID:0080027 DOID:2256 osteochondrodysplasia MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0004947 DOID:0080649 DOID:0080630 B-cell acute lymphoblastic leukemia -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0005395 DOID:0070487 DOID:480 movement disorder MONDO:0700200 atypical dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070488 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 DOID:0081358 DOID:4603 epidermolytic ichthyosis diff --git a/src/ontology/reports/icd10cm.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/icd10cm.subclass.confirmed-direct-source-indirect-mondo.robot.tsv new file mode 100644 index 00000000..7b53bc08 --- /dev/null +++ b/src/ontology/reports/icd10cm.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -0,0 +1,99 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source +MONDO:0000245 tinea imbricata MONDO:0004678 ICD10CM:B35.5 ICD10CM:B35 dermatophytosis +MONDO:0000367 taeniasis MONDO:0004664 ICD10CM:B68 ICD10CM:B65-B83 helminthiasis +MONDO:0000916 intestinal infectious disease MONDO:0005550 ICD10CM:A00-A09 ICD10CM:A00-B99 infectious disease +MONDO:0001176 lens disorder MONDO:0002022 ICD10CM:H25-H28 ICD10CM:H00-H59 disorder of orbital region +MONDO:0001195 spotted fever MONDO:0006956 ICD10CM:A77 ICD10CM:A75-A79 Rickettsiosis +MONDO:0001367 chronic congestive splenomegaly MONDO:0002332 ICD10CM:D73.2 ICD10CM:D73 splenic disorder +MONDO:0001416 female reproductive organ cancer MONDO:0005070 ICD10CM:C51-C58 ICD10CM:C00-D49 neoplasm +MONDO:0001444 Chagas disease MONDO:0002428 ICD10CM:B57 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0001633 central retinal artery occlusion MONDO:0002089 ICD10CM:H34.1 ICD10CM:H34 retinal vascular occlusion +MONDO:0001797 chancroid MONDO:0021681 ICD10CM:A57 ICD10CM:A50-A64 sexually transmitted disease +MONDO:0001815 extrapyramidal and movement disease MONDO:0005071 ICD10CM:G20-G26 ICD10CM:G00-G99 nervous system disorder +MONDO:0001876 renal artery atheroma MONDO:0005311 ICD10CM:I70.1 ICD10CM:I70 atherosclerosis +MONDO:0001943 Plasmodium malariae malaria MONDO:0002428 ICD10CM:B52 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0002026 candidiasis MONDO:0002041 ICD10CM:B37 ICD10CM:B35-B49 fungal infectious disease +MONDO:0002067 female breast upper-inner quadrant cancer MONDO:0007254 ICD10CM:C50.2 ICD10CM:C50 breast cancer +MONDO:0002068 female breast lower-inner quadrant cancer MONDO:0007254 ICD10CM:C50.3 ICD10CM:C50 breast cancer +MONDO:0002069 female breast axillary tail cancer MONDO:0007254 ICD10CM:C50.6 ICD10CM:C50 breast cancer +MONDO:0002425 rectosigmoid junction cancer MONDO:0002516 ICD10CM:C19 ICD10CM:C15-C26 digestive system cancer +MONDO:0002428 protozoa infectious disease MONDO:0005550 ICD10CM:B50-B64 ICD10CM:A00-B99 infectious disease +MONDO:0002516 digestive system cancer MONDO:0005070 ICD10CM:C15-C26 ICD10CM:C00-D49 neoplasm +MONDO:0002875 parasitic ectoparasitic infectious disease MONDO:0005550 ICD10CM:B85-B89 ICD10CM:A00-B99 infectious disease +MONDO:0002898 skin cancer MONDO:0005070 ICD10CM:C43-C44 ICD10CM:C00-D49 neoplasm +MONDO:0003664 hemolytic anemia MONDO:0005570 ICD10CM:D55-D59 ICD10CM:D50-D89 hematologic disorder +MONDO:0004473 epiglottis cancer MONDO:0004608 ICD10CM:C10.1 ICD10CM:C10 oropharynx cancer +MONDO:0004525 scabies MONDO:0002875 ICD10CM:B86 ICD10CM:B85-B89 parasitic ectoparasitic infectious disease +MONDO:0004664 helminthiasis MONDO:0005550 ICD10CM:B65-B83 ICD10CM:A00-B99 infectious disease +MONDO:0004678 dermatophytosis MONDO:0002041 ICD10CM:B35 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005021 dilated cardiomyopathy MONDO:0004994 ICD10CM:I42.0 ICD10CM:I42 cardiomyopathy +MONDO:0005041 glaucoma MONDO:0002022 ICD10CM:H40-H42 ICD10CM:H00-H59 disorder of orbital region +MONDO:0005044 hypertensive disorder MONDO:0005385 ICD10CM:I10-I16 ICD10CM:I00-I99 vascular disorder +MONDO:0005109 HIV infectious disease MONDO:0005550 ICD10CM:B20-B20 ICD10CM:A00-B99 infectious disease +MONDO:0005154 liver disorder MONDO:0004335 ICD10CM:K70-K77 ICD10CM:K00-K95 digestive system disorder +MONDO:0005298 osteoporosis MONDO:0005381 ICD10CM:M81 ICD10CM:M80-M85 bone disorder +MONDO:0005311 atherosclerosis MONDO:0005385 ICD10CM:I70 ICD10CM:I70-I79 vascular disorder +MONDO:0005340 alopecia areata MONDO:0024481 ICD10CM:L63 ICD10CM:L60-L75 skin appendage disorder +MONDO:0005519 renal pelvis carcinoma MONDO:0006295 ICD10CM:C65 ICD10CM:C64-C68 malignant urinary system neoplasm +MONDO:0005654 ascariasis MONDO:0004664 ICD10CM:B77 ICD10CM:B65-B83 helminthiasis +MONDO:0005657 aspergillosis MONDO:0002041 ICD10CM:B44 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005672 blastomycosis MONDO:0002041 ICD10CM:B40 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005706 coccidioidomycosis MONDO:0002041 ICD10CM:B38 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005714 congenital syphilis MONDO:0021681 ICD10CM:A50 ICD10CM:A50-A64 sexually transmitted disease +MONDO:0005724 cryptococcosis MONDO:0002041 ICD10CM:B45 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005738 echinococcosis MONDO:0004664 ICD10CM:B67 ICD10CM:B65-B83 helminthiasis +MONDO:0005746 enterobiasis MONDO:0004664 ICD10CM:B80 ICD10CM:B65-B83 helminthiasis +MONDO:0005777 granuloma inguinale MONDO:0021681 ICD10CM:A58 ICD10CM:A50-A64 sexually transmitted disease +MONDO:0005844 chalazion MONDO:0003382 ICD10CM:H00.1 ICD10CM:H00 eyelid disorder +MONDO:0005848 miliary tuberculosis MONDO:0018076 ICD10CM:A19 ICD10CM:A15-A19 tuberculosis +MONDO:0005894 paracoccidioidomycosis MONDO:0002041 ICD10CM:B41 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005921 Plasmodium vivax malaria MONDO:0002428 ICD10CM:B51 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0005989 toxoplasmosis MONDO:0002428 ICD10CM:B58 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0005996 trichuriasis MONDO:0004664 ICD10CM:B79 ICD10CM:B65-B83 helminthiasis +MONDO:0006004 vasomotor rhinitis MONDO:0003014 ICD10CM:J30.0 ICD10CM:J30 rhinitis +MONDO:0006011 viral hepatitis MONDO:0005550 ICD10CM:B15-B19 ICD10CM:A00-B99 infectious disease +MONDO:0006014 vulvovaginal candidiasis MONDO:0002026 ICD10CM:B37.3 ICD10CM:B37 candidiasis +MONDO:0006170 conjunctival disorder MONDO:0002022 ICD10CM:H10-H11 ICD10CM:H00-H59 disorder of orbital region +MONDO:0006295 malignant urinary system neoplasm MONDO:0005070 ICD10CM:C64-C68 ICD10CM:C00-D49 neoplasm +MONDO:0006496 palsy MONDO:0005071 ICD10CM:G80-G83 ICD10CM:G00-G99 nervous system disorder +MONDO:0006534 cholinergic urticaria MONDO:0005492 ICD10CM:L50.5 ICD10CM:L50 urticaria +MONDO:0006618 vibratory urticaria MONDO:0005492 ICD10CM:L50.4 ICD10CM:L50 urticaria +MONDO:0006643 alcoholic cardiomyopathy MONDO:0004994 ICD10CM:I42.6 ICD10CM:I42 cardiomyopathy +MONDO:0006826 kwashiorkor MONDO:0006873 ICD10CM:E40 ICD10CM:E40-E46 nutritional deficiency disease +MONDO:0006848 marasmus MONDO:0006873 ICD10CM:E41 ICD10CM:E40-E46 nutritional deficiency disease +MONDO:0006946 renal osteodystrophy MONDO:0001343 ICD10CM:N25.0 ICD10CM:N25 impaired renal function disease +MONDO:0006947 renovascular hypertension MONDO:0005044 ICD10CM:I15.0 ICD10CM:I15 hypertensive disorder +MONDO:0006956 Rickettsiosis MONDO:0005550 ICD10CM:A75-A79 ICD10CM:A00-B99 infectious disease +MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0001422 ICD10CM:E26.02 ICD10CM:E26.0 primary aldosteronism +MONDO:0007448 familial dermatographia MONDO:0005492 ICD10CM:L50.3 ICD10CM:L50 urticaria +MONDO:0007810 autosomal dominant ichthyosis vulgaris MONDO:0015947 ICD10CM:Q80.0 ICD10CM:Q80 inherited ichthyosis +MONDO:0008575 nicotine dependence MONDO:0002494 ICD10CM:F17 ICD10CM:F10-F19 substance-related disorder +MONDO:0008890 progressive bulbar palsy MONDO:0020128 ICD10CM:G12.22 ICD10CM:G12.2 motor neuron disorder +MONDO:0011057 cerebrovascular disorder MONDO:0005385 ICD10CM:I60-I69 ICD10CM:I00-I99 vascular disorder +MONDO:0011728 benign essential blepharospasm MONDO:0003441 ICD10CM:G24.5 ICD10CM:G24 dystonic disorder +MONDO:0015484 cysticercosis MONDO:0004664 ICD10CM:B69 ICD10CM:B65-B83 helminthiasis +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0004670 ICD10CM:L93.1 ICD10CM:L93 lupus erythematosus +MONDO:0015925 interstitial lung disease MONDO:0005087 ICD10CM:J80-J84 ICD10CM:J00-J99 respiratory system disorder +MONDO:0016158 narcolepsy-cataplexy syndrome MONDO:0003406 ICD10CM:G47.4 ICD10CM:G47 sleep-wake disorder +MONDO:0016472 dracunculiasis MONDO:0004664 ICD10CM:B72 ICD10CM:B65-B83 helminthiasis +MONDO:0017137 onchocerciasis MONDO:0004664 ICD10CM:B73 ICD10CM:B65-B83 helminthiasis +MONDO:0017610 epidermolysis bullosa simplex MONDO:0006541 ICD10CM:Q81.0 ICD10CM:Q81 epidermolysis bullosa +MONDO:0018076 tuberculosis MONDO:0005550 ICD10CM:A15-A19 ICD10CM:A00-B99 infectious disease +MONDO:0018312 histoplasmosis MONDO:0002041 ICD10CM:B39 ICD10CM:B35-B49 fungal infectious disease +MONDO:0019136 Zygomycosis MONDO:0002041 ICD10CM:B46 ICD10CM:B35-B49 fungal infectious disease +MONDO:0019322 pemphigus vegetans MONDO:0006594 ICD10CM:L10.1 ICD10CM:L10 pemphigus +MONDO:0019345 shigellosis MONDO:0000916 ICD10CM:A03 ICD10CM:A00-A09 intestinal infectious disease +MONDO:0019356 urogenital tract malformation MONDO:0021147 ICD10CM:Q60-Q64 ICD10CM:Q00-Q99 disorder of development or morphogenesis +MONDO:0019444 trichinellosis MONDO:0004664 ICD10CM:B75 ICD10CM:B65-B83 helminthiasis +MONDO:0019558 discoid lupus erythematosus MONDO:0004670 ICD10CM:L93.0 ICD10CM:L93 lupus erythematosus +MONDO:0019992 pseudohypoparathyroidism MONDO:0001220 ICD10CM:E20.1 ICD10CM:E20 hypoparathyroidism +MONDO:0020022 central nervous system malformation MONDO:0021147 ICD10CM:Q00-Q07 ICD10CM:Q00-Q99 disorder of development or morphogenesis +MONDO:0020800 demyelinating disease of central nervous system MONDO:0005071 ICD10CM:G35-G37 ICD10CM:G00-G99 nervous system disorder +MONDO:0021527 benign neoplasm of meninges MONDO:0005165 ICD10CM:D32 ICD10CM:D10-D36 benign neoplasm +MONDO:0021697 chlamydia infectious disease MONDO:0005550 ICD10CM:A70-A74 ICD10CM:A00-B99 infectious disease +MONDO:0024356 primary central sleep apnea syndrome MONDO:0005296 ICD10CM:G47.31 ICD10CM:G47.3 sleep apnea syndrome +MONDO:0024644 myocardial ischemia MONDO:0005385 ICD10CM:I20-I25 ICD10CM:I00-I99 vascular disorder +MONDO:0044210 thalassemia minor MONDO:0000984 ICD10CM:D56.3 ICD10CM:D56 thalassemia +MONDO:0056798 disorder of appendix MONDO:0004335 ICD10CM:K35-K38 ICD10CM:K00-K95 digestive system disorder +MONDO:0100491 generalized pustular psoriasis MONDO:0005083 ICD10CM:L40.1 ICD10CM:L40 psoriasis diff --git a/src/ontology/reports/icd10who.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/icd10who.subclass.confirmed-direct-source-indirect-mondo.robot.tsv new file mode 100644 index 00000000..2ac6265c --- /dev/null +++ b/src/ontology/reports/icd10who.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -0,0 +1,2 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source diff --git a/src/ontology/reports/icd11foundation.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/icd11foundation.subclass.confirmed-direct-source-indirect-mondo.robot.tsv new file mode 100644 index 00000000..892323e5 --- /dev/null +++ b/src/ontology/reports/icd11foundation.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -0,0 +1,139 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source +MONDO:0000240 invasive aspergillosis MONDO:0005657 icd11.foundation:1314810340 icd11.foundation:1913468488 aspergillosis +MONDO:0000450 secondary progressive multiple sclerosis MONDO:0005301 icd11.foundation:1045965709 icd11.foundation:1298865187 multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis MONDO:0005301 icd11.foundation:1020720762 icd11.foundation:1298865187 multiple sclerosis +MONDO:0001076 glucose intolerance MONDO:0017706 icd11.foundation:1392580302 icd11.foundation:1315315105 disorder of carbohydrate transmembrane transport and absorption +MONDO:0001217 pseudomembranous conjunctivitis MONDO:0003799 icd11.foundation:1606516539 icd11.foundation:831696556 conjunctivitis +MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0020121 icd11.foundation:621965073 icd11.foundation:1464662404 muscular dystrophy +MONDO:0001914 scleromalacia perforans MONDO:0001718 icd11.foundation:740830358 icd11.foundation:2097802831 scleritis +MONDO:0001936 brawny scleritis MONDO:0001718 icd11.foundation:1606860546 icd11.foundation:2097802831 scleritis +MONDO:0002133 chronic rheumatic pericarditis MONDO:0005904 icd11.foundation:1473004877 icd11.foundation:1296696944 pericarditis +MONDO:0002697 ovarian gonadoblastoma MONDO:0008170 icd11.foundation:1564602847 icd11.foundation:685124533 ovarian cancer +MONDO:0003481 dysgerminoma of ovary MONDO:0008170 icd11.foundation:208782658 icd11.foundation:685124533 ovarian cancer +MONDO:0005021 dilated cardiomyopathy MONDO:0004994 icd11.foundation:1916294688 icd11.foundation:282225286 cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy MONDO:0004994 icd11.foundation:1830681485 icd11.foundation:282225286 cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy MONDO:0004994 icd11.foundation:316495940 icd11.foundation:282225286 cardiomyopathy +MONDO:0005680 Brill-Zinsser disease MONDO:0001246 icd11.foundation:1961511435 icd11.foundation:292650041 typhus +MONDO:0005696 central nervous system tuberculosis MONDO:0018076 icd11.foundation:729372485 icd11.foundation:2072728114 tuberculosis +MONDO:0005848 miliary tuberculosis MONDO:0018076 icd11.foundation:861638547 icd11.foundation:2072728114 tuberculosis +MONDO:0006976 somatostatinoma MONDO:0005815 icd11.foundation:219879696 icd11.foundation:1421495979 pancreatic neuroendocrine neoplasm +MONDO:0006982 subacute thyroiditis MONDO:0004126 icd11.foundation:1320394379 icd11.foundation:587793334 thyroiditis +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:0019701 icd11.foundation:1513713461 icd11.foundation:1923035846 chondrodysplasia punctata +MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0015079 icd11.foundation:1638765741 icd11.foundation:1316827435 multiple polyglandular tumor +MONDO:0007745 Gilbert syndrome MONDO:0017755 icd11.foundation:1947520963 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0019287 icd11.foundation:315453775 icd11.foundation:1156567558 ectodermal dysplasia syndrome +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0019695 icd11.foundation:315453775 icd11.foundation:177141175 acromelic dysplasia +MONDO:0007988 autosomal dominant primary microcephaly MONDO:0001149 icd11.foundation:774437947 icd11.foundation:179350437 microcephaly +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 icd11.foundation:1897905410 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 icd11.foundation:2024049157 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 icd11.foundation:829297901 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0008223 hypokalemic periodic paralysis MONDO:0016122 icd11.foundation:1494773635 icd11.foundation:577112387 periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis MONDO:0016122 icd11.foundation:1308452752 icd11.foundation:577112387 periodic paralysis +MONDO:0008272 polysyndactyly 4 MONDO:0019530 icd11.foundation:973656080 icd11.foundation:1736296640 non-syndromic syndactyly +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0017307 icd11.foundation:1168847652 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0018910 icd11.foundation:1168847652 icd11.foundation:1189424097 oculocutaneous albinism +MONDO:0008855 MHC class II deficiency MONDO:0015131 icd11.foundation:2021339495 icd11.foundation:1616506198 combined immunodeficiency +MONDO:0008890 progressive bulbar palsy MONDO:0020128 icd11.foundation:1143049440 icd11.foundation:661720689 motor neuron disorder +MONDO:0008973 chondrodysplasia punctata, Toriello type MONDO:0019701 icd11.foundation:1167798993 icd11.foundation:1923035846 chondrodysplasia punctata +MONDO:0009044 Crigler-Najjar syndrome MONDO:0017755 icd11.foundation:291439191 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0009066 juvenile nephropathic cystinosis MONDO:0016239 icd11.foundation:422905632 icd11.foundation:733715856 cystinosis +MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO:0019241 icd11.foundation:2074850874 icd11.foundation:34853044 inborn disorder of the gamma-glutamyl cycle +MONDO:0009379 Rotor syndrome MONDO:0017755 icd11.foundation:1965776012 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0009380 Dubin-Johnson syndrome MONDO:0017755 icd11.foundation:1691610999 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0010837 icd11.foundation:1929875111 icd11.foundation:817194045 primary hyperparathyroidism +MONDO:0009519 letterer-Siwe disease MONDO:0018310 icd11.foundation:1827474596 icd11.foundation:216625985 Langerhans cell histiocytosis +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:0019694 icd11.foundation:975738106 icd11.foundation:329165933 spondylodysplastic dysplasia +MONDO:0009756 Niemann-Pick disease type A MONDO:0001982 icd11.foundation:530611243 icd11.foundation:398872780 Niemann-Pick disease +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0019287 icd11.foundation:1256237872 icd11.foundation:1156567558 ectodermal dysplasia syndrome +MONDO:0009785 opsismodysplasia MONDO:0019694 icd11.foundation:2147268863 icd11.foundation:329165933 spondylodysplastic dysplasia +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 icd11.foundation:629873920 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0009823 primary hyperoxaluria type 1 MONDO:0017703 icd11.foundation:692812009 icd11.foundation:1800430868 disorder of glyoxylate metabolism +MONDO:0009823 primary hyperoxaluria type 1 MONDO:0019053 icd11.foundation:692812009 icd11.foundation:782299726 peroxisomal disease +MONDO:0009837 choroid plexus papilloma MONDO:0016717 icd11.foundation:1696749652 icd11.foundation:1959912502 choroid plexus neoplasm +MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0006502 icd11.foundation:343716587 icd11.foundation:1189702844 acute respiratory distress syndrome +MONDO:0010070 brachyolmia type 1, Hobaek type MONDO:0015262 icd11.foundation:1213374086 icd11.foundation:1255949169 brachyolmia +MONDO:0010074 brachyolmia type 1, toledo type MONDO:0015262 icd11.foundation:637954533 icd11.foundation:1255949169 brachyolmia +MONDO:0010160 tyrosinemia type II MONDO:0017307 icd11.foundation:1900229795 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0010161 tyrosinemia type I MONDO:0017307 icd11.foundation:2029519782 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0020121 icd11.foundation:420677690 icd11.foundation:1464662404 muscular dystrophy +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0003608 icd11.foundation:1018428959 icd11.foundation:568505454 optic atrophy +MONDO:0011224 monomelic amyotrophy MONDO:0020128 icd11.foundation:2090347823 icd11.foundation:661720689 motor neuron disorder +MONDO:0011698 glycine N-methyltransferase deficiency MONDO:0019222 icd11.foundation:16192453 icd11.foundation:67872354 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0011731 glucose-galactose malabsorption MONDO:0017706 icd11.foundation:2108415931 icd11.foundation:1315315105 disorder of carbohydrate transmembrane transport and absorption +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0017307 icd11.foundation:1233842528 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018910 icd11.foundation:1233842528 icd11.foundation:1189424097 oculocutaneous albinism +MONDO:0011870 annular epidermolytic ichthyosis MONDO:0017266 icd11.foundation:280058464 icd11.foundation:992865924 keratinopathic ichthyosis +MONDO:0011871 Niemann-Pick disease type B MONDO:0001982 icd11.foundation:327269975 icd11.foundation:398872780 Niemann-Pick disease +MONDO:0011986 tropical pancreatitis MONDO:0005003 icd11.foundation:1645607956 icd11.foundation:1758007371 chronic pancreatitis +MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0015079 icd11.foundation:157945677 icd11.foundation:1316827435 multiple polyglandular tumor +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 icd11.foundation:1718903422 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0019052 icd11.foundation:824872160 icd11.foundation:733825440 inborn errors of metabolism +MONDO:0013512 hemoglobin H disease MONDO:0011399 icd11.foundation:9436211 icd11.foundation:531667506 alpha thalassemia spectrum +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0020128 icd11.foundation:1650555742 icd11.foundation:661720689 motor neuron disorder +MONDO:0015516 symbrachydactyly of hands and feet MONDO:0021004 icd11.foundation:159463685 icd11.foundation:598200019 brachydactyly +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0004670 icd11.foundation:192274757 icd11.foundation:1443317238 lupus erythematosus +MONDO:0015574 chronic cutaneous lupus erythematosus MONDO:0004670 icd11.foundation:1849568465 icd11.foundation:1443317238 lupus erythematosus +MONDO:0015643 photosensitive epilepsy MONDO:0017768 icd11.foundation:946957931 icd11.foundation:276807111 reflex epilepsy +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019053 icd11.foundation:260357080 icd11.foundation:782299726 peroxisomal disease +MONDO:0015808 folliculotropic mycosis fungoides MONDO:0015821 icd11.foundation:1335995469 icd11.foundation:2036068731 mycosis fungoides and variants +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0015492 icd11.foundation:835880885 icd11.foundation:1404622826 anti-neutrophil cytoplasmic antibody-associated vasculitis +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0002561 icd11.foundation:1568332253 icd11.foundation:656131403 lysosomal storage disease +MONDO:0016321 pulmonary interstitial glycogenosis MONDO:0017015 icd11.foundation:1386580655 icd11.foundation:1408868257 primary interstitial lung disease specific to childhood +MONDO:0016322 neuroendocrine cell hyperplasia of infancy MONDO:0017015 icd11.foundation:1641999159 icd11.foundation:1408868257 primary interstitial lung disease specific to childhood +MONDO:0016332 hypertrophic cardiomyopathy due to intensive athletic training MONDO:0005045 icd11.foundation:183927358 icd11.foundation:1830681485 hypertrophic cardiomyopathy +MONDO:0016367 dermatomyositis MONDO:0020122 icd11.foundation:739030149 icd11.foundation:464294586 acquired idiopathic inflammatory myopathy +MONDO:0016390 familial hypoparathyroidism MONDO:0001220 icd11.foundation:1907423603 icd11.foundation:1708733050 hypoparathyroidism +MONDO:0016391 neonatal diabetes mellitus MONDO:0005015 icd11.foundation:1217915084 icd11.foundation:465177735 diabetes mellitus +MONDO:0016718 choroid plexus carcinoma MONDO:0016717 icd11.foundation:1128449352 icd11.foundation:1959912502 choroid plexus neoplasm +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0020121 icd11.foundation:749295636 icd11.foundation:1464662404 muscular dystrophy +MONDO:0016971 limb-girdle muscular dystrophy MONDO:0020121 icd11.foundation:887807212 icd11.foundation:1464662404 muscular dystrophy +MONDO:0017062 spina bifida aperta MONDO:0008449 icd11.foundation:187581000 icd11.foundation:2036217905 spina bifida +MONDO:0017069 spina bifida cystica MONDO:0008449 icd11.foundation:979482551 icd11.foundation:2036217905 spina bifida +MONDO:0017276 frontotemporal dementia MONDO:0001627 icd11.foundation:831337417 icd11.foundation:546689346 dementia +MONDO:0017835 lymphocytic hypereosinophilic syndrome MONDO:0015691 icd11.foundation:367714724 icd11.foundation:110429919 hypereosinophilic syndrome +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0015780 icd11.foundation:340127408 icd11.foundation:1531033936 dyskeratosis congenita +MONDO:0018155 lateral sclerosis MONDO:0020128 icd11.foundation:1686688462 icd11.foundation:661720689 motor neuron disorder +MONDO:0018360 neonatal lupus erythematosus MONDO:0004670 icd11.foundation:213855225 icd11.foundation:1443317238 lupus erythematosus +MONDO:0018369 immature ovarian teratoma MONDO:0008170 icd11.foundation:551209361 icd11.foundation:685124533 ovarian cancer +MONDO:0018375 traumatic avascular necrosis MONDO:0005380 icd11.foundation:822486319 icd11.foundation:536467755 osteonecrosis +MONDO:0018380 idiopathic avascular necrosis MONDO:0005380 icd11.foundation:551598148 icd11.foundation:536467755 osteonecrosis +MONDO:0018544 adrenoleukodystrophy MONDO:0019053 icd11.foundation:1085655586 icd11.foundation:782299726 peroxisomal disease +MONDO:0018687 progressive muscular atrophy MONDO:0020128 icd11.foundation:1282359533 icd11.foundation:661720689 motor neuron disorder +MONDO:0018877 retinitis punctata albescens MONDO:0016420 icd11.foundation:567796529 icd11.foundation:979898273 familial flecked retinopathy +MONDO:0018920 peripartum cardiomyopathy MONDO:0004994 icd11.foundation:1218807936 icd11.foundation:282225286 cardiomyopathy +MONDO:0018932 cirrhotic cardiomyopathy MONDO:0004994 icd11.foundation:1268082489 icd11.foundation:282225286 cardiomyopathy +MONDO:0018951 distal myopathy with vocal cord weakness MONDO:0018949 icd11.foundation:1133125258 icd11.foundation:596283352 distal myopathy +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0019222 icd11.foundation:726186034 icd11.foundation:67872354 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0015079 icd11.foundation:1837913809 icd11.foundation:1316827435 multiple polyglandular tumor +MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome MONDO:0005377 icd11.foundation:1385860879 icd11.foundation:1184209951 nephrotic syndrome +MONDO:0019025 extracutaneous mastocytoma MONDO:0007950 icd11.foundation:29932455 icd11.foundation:691643472 mastocytosis +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0017287 icd11.foundation:796087277 icd11.foundation:99883782 IgG4-related disease +MONDO:0019255 sphingolipidosis MONDO:0002561 icd11.foundation:1875237176 icd11.foundation:656131403 lysosomal storage disease +MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 icd11.foundation:1449168185 icd11.foundation:807065795 familial amyloid neuropathy +MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:0020108 icd11.foundation:715111132 icd11.foundation:1834341306 autoimmune hemolytic anemia +MONDO:0019576 telangiectasia macularis eruptiva perstans MONDO:0019023 icd11.foundation:444226072 icd11.foundation:1300710062 cutaneous mastocytosis +MONDO:0019621 chronic pneumonitis of infancy MONDO:0017015 icd11.foundation:1821220054 icd11.foundation:1408868257 primary interstitial lung disease specific to childhood +MONDO:0019669 hypochondrogenesis MONDO:0019694 icd11.foundation:1494246635 icd11.foundation:329165933 spondylodysplastic dysplasia +MONDO:0019732 ALys amyloidosis MONDO:0018634 icd11.foundation:831687561 icd11.foundation:1152878652 hereditary amyloidosis +MONDO:0019733 AFib amyloidosis MONDO:0018634 icd11.foundation:141110588 icd11.foundation:1152878652 hereditary amyloidosis +MONDO:0019773 myelomeningocele MONDO:0008449 icd11.foundation:1200528084 icd11.foundation:2036217905 spina bifida +MONDO:0019959 glucagonoma MONDO:0005815 icd11.foundation:1918063179 icd11.foundation:1421495979 pancreatic neuroendocrine neoplasm +MONDO:0019960 VIPoma MONDO:0005815 icd11.foundation:20634476 icd11.foundation:1421495979 pancreatic neuroendocrine neoplasm +MONDO:0019992 pseudohypoparathyroidism MONDO:0001220 icd11.foundation:1225154856 icd11.foundation:1708733050 hypoparathyroidism +MONDO:0020359 congenital symblepharon MONDO:0020153 icd11.foundation:1595154985 icd11.foundation:740223582 cryptophthalmia +MONDO:0020360 complete cryptophthalmia MONDO:0020153 icd11.foundation:162797488 icd11.foundation:740223582 cryptophthalmia +MONDO:0020361 partial cryptophthalmia MONDO:0020153 icd11.foundation:407675981 icd11.foundation:740223582 cryptophthalmia +MONDO:0020374 cerulean cataract MONDO:0011060 icd11.foundation:1188848969 icd11.foundation:1080602978 early-onset non-syndromic cataract +MONDO:0020518 Hashimoto-Pritzker syndrome MONDO:0018310 icd11.foundation:1011705244 icd11.foundation:216625985 Langerhans cell histiocytosis +MONDO:0020520 adult pulmonary Langerhans cell histiocytosis MONDO:0018310 icd11.foundation:792398738 icd11.foundation:216625985 Langerhans cell histiocytosis +MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0008170 icd11.foundation:148207042 icd11.foundation:685124533 ovarian cancer +MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease MONDO:0024249 icd11.foundation:1408299147 icd11.foundation:266281219 pityriasis lichenoides +MONDO:0023232 giant cell myocarditis MONDO:0004496 icd11.foundation:507103735 icd11.foundation:1018829714 myocarditis +MONDO:0024472 boutonneuse fever MONDO:0001195 icd11.foundation:1771381430 icd11.foundation:9953620 spotted fever +MONDO:0044014 postpartum thyroiditis MONDO:0004126 icd11.foundation:1577113218 icd11.foundation:587793334 thyroiditis +MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:0017266 icd11.foundation:244597687 icd11.foundation:992865924 keratinopathic ichthyosis +MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0000004 icd11.foundation:1920929898 icd11.foundation:733056203 adrenocortical insufficiency +MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 icd11.foundation:1736273667 icd11.foundation:807065795 familial amyloid neuropathy +MONDO:0957462 primary pulmonary tuberculosis MONDO:0018076 icd11.foundation:882244568 icd11.foundation:2072728114 tuberculosis +MONDO:0958076 myeloschisis MONDO:0008449 icd11.foundation:1547705800 icd11.foundation:2036217905 spina bifida diff --git a/src/ontology/reports/ncit.subclass.added.robot.tsv b/src/ontology/reports/ncit.subclass.added.robot.tsv index c8293e94..9cf0d52e 100644 --- a/src/ontology/reports/ncit.subclass.added.robot.tsv +++ b/src/ontology/reports/ncit.subclass.added.robot.tsv @@ -174,6 +174,7 @@ MONDO:0003988 sternum lymphoma MONDO:0003985 NCIT:C6716 NCIT:C6712 chest wall ly MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0004010 NCIT:C6186 NCIT:C39879 infiltrating renal pelvis/ureter urothelial carcinoma MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma MONDO:0020654 NCIT:C39879 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0004021 mediastinal malignant lymphoma MONDO:0017207 NCIT:C6633 NCIT:C7185 primary organ-specific lymphoma +MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C4908 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0017207 NCIT:C35690 NCIT:C7185 primary organ-specific lymphoma MONDO:0004048 immature gastric teratoma MONDO:0024857 NCIT:C5256 NCIT:C8884 immature extragonadal teratoma MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma MONDO:0004056 NCIT:C27202 NCIT:C7383 bladder papillary urothelial carcinoma diff --git a/src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv new file mode 100644 index 00000000..04522521 --- /dev/null +++ b/src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -0,0 +1,415 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source +MONDO:0000521 salivary gland carcinoma MONDO:0002038 NCIT:C9272 NCIT:C35850 head and neck carcinoma +MONDO:0000620 breast benign neoplasm MONDO:0005165 NCIT:C4505 NCIT:C3677 benign neoplasm +MONDO:0000654 benign connective and soft tissue neoplasm MONDO:0005165 NCIT:C53684 NCIT:C3677 benign neoplasm +MONDO:0000919 ampulla of vater cancer MONDO:0002516 NCIT:C3536 NCIT:C4890 digestive system cancer +MONDO:0000921 ampulla of vater neoplasm MONDO:0021223 NCIT:C4443 NCIT:C3052 digestive system neoplasm +MONDO:0001023 prolymphocytic leukemia MONDO:0005402 NCIT:C3181 NCIT:C7539 lymphoid leukemia +MONDO:0001082 lymph node cancer MONDO:0004992 NCIT:C35812 NCIT:C9305 cancer +MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0003098 NCIT:C6627 NCIT:C6624 mediastinal neural neoplasm +MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0005843 NCIT:C6627 NCIT:C3549 mediastinal cancer +MONDO:0001235 appendix cancer MONDO:0002516 NCIT:C9333 NCIT:C4890 digestive system cancer +MONDO:0001236 appendiceal neoplasm MONDO:0021223 NCIT:C4434 NCIT:C3052 digestive system neoplasm +MONDO:0001237 appendix lymphoma MONDO:0004699 NCIT:C5513 NCIT:C38162 gastrointestinal lymphoma +MONDO:0001322 pericardium cancer MONDO:0002100 NCIT:C4567 NCIT:C114940 cardiovascular cancer +MONDO:0001322 pericardium cancer MONDO:0003274 NCIT:C4567 NCIT:C3576 thoracic cancer +MONDO:0001608 vagus nerve neoplasm MONDO:0002633 NCIT:C5831 NCIT:C2963 cranial nerve neoplasm +MONDO:0001740 cornea squamous cell carcinoma MONDO:0005096 NCIT:C4552 NCIT:C2929 squamous cell carcinoma +MONDO:0001748 maxillary sinus carcinoma MONDO:0020669 NCIT:C3540 NCIT:C7487 paranasal sinus cancer +MONDO:0001756 frontal sinus cancer MONDO:0020669 NCIT:C3542 NCIT:C7487 paranasal sinus cancer +MONDO:0001758 paranasal sinus sarcoma MONDO:0020669 NCIT:C6849 NCIT:C7487 paranasal sinus cancer +MONDO:0001763 ethmoid sinus cancer MONDO:0020669 NCIT:C3541 NCIT:C7487 paranasal sinus cancer +MONDO:0001879 anus cancer MONDO:0002516 NCIT:C7379 NCIT:C4890 digestive system cancer +MONDO:0001888 anus lymphoma MONDO:0004699 NCIT:C5601 NCIT:C38162 gastrointestinal lymphoma +MONDO:0001994 sphenoidal sinus cancer MONDO:0020669 NCIT:C3543 NCIT:C7487 paranasal sinus cancer +MONDO:0002072 melanotic neuroectodermal tumor MONDO:0005564 NCIT:C3717 NCIT:C3264 embryonal neoplasm +MONDO:0002143 vaginal yolk sac tumor MONDO:0001402 NCIT:C6379 NCIT:C7410 vaginal cancer +MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0018078 NCIT:C40128 NCIT:C9306 soft tissue sarcoma +MONDO:0002178 placenta cancer MONDO:0001416 NCIT:C3555 NCIT:C4913 female reproductive organ cancer +MONDO:0002197 minor vestibular glands adenoma MONDO:0000643 NCIT:C40301 NCIT:C3611 vulvar benign neoplasm +MONDO:0002236 ocular cancer MONDO:0004992 NCIT:C4767 NCIT:C9305 cancer +MONDO:0002328 intracranial hemangioma MONDO:0006500 NCIT:C3633 NCIT:C3085 hemangioma +MONDO:0002386 mixed epithelial stromal tumor of the kidney MONDO:0021043 NCIT:C37263 NCIT:C6930 mixed neoplasm +MONDO:0002422 adamantinoma MONDO:0002129 NCIT:C7644 NCIT:C4016 bone cancer +MONDO:0002422 adamantinoma MONDO:0005626 NCIT:C7644 NCIT:C3709 epithelial neoplasm +MONDO:0002423 rectosigmoid junction neoplasm MONDO:0005335 NCIT:C4877 NCIT:C2956 colorectal neoplasm +MONDO:0002424 rectosigmoid carcinoma MONDO:0024331 NCIT:C7421 NCIT:C2955 colorectal carcinoma +MONDO:0002425 rectosigmoid junction cancer MONDO:0005575 NCIT:C7420 NCIT:C4978 colorectal cancer +MONDO:0002433 malignant cranial nerve neoplasm MONDO:0005872 NCIT:C3571 NCIT:C4788 nervous system cancer +MONDO:0002460 lacrimal system cancer MONDO:0021220 NCIT:C5102 NCIT:C3030 eye neoplasm +MONDO:0002466 eye carcinoma MONDO:0004993 NCIT:C6079 NCIT:C2916 carcinoma +MONDO:0002481 ovarian neuroendocrine neoplasm MONDO:0021068 NCIT:C5237 NCIT:C4984 ovarian neoplasm +MONDO:0002486 lobular neoplasia MONDO:0021100 NCIT:C27939 NCIT:C2910 breast neoplasm +MONDO:0002542 spinal cord glioma MONDO:0021042 NCIT:C4534 NCIT:C3059 glioma +MONDO:0002542 spinal cord glioma MONDO:0021234 NCIT:C4534 NCIT:C3381 spinal cord neoplasm +MONDO:0002558 melanotic neurilemmoma MONDO:0002547 NCIT:C6970 NCIT:C4972 nerve sheath neoplasm +MONDO:0002633 cranial nerve neoplasm MONDO:0021248 NCIT:C2963 NCIT:C3268 nervous system neoplasm +MONDO:0002652 anus adenocarcinoma MONDO:0004970 NCIT:C5600 NCIT:C2852 adenocarcinoma +MONDO:0002669 ampullary signet ring cell adenocarcinoma MONDO:0005092 NCIT:C6656 NCIT:C3774 signet ring cell carcinoma +MONDO:0002670 ampulla of vater adenocarcinoma MONDO:0004970 NCIT:C6650 NCIT:C2852 adenocarcinoma +MONDO:0002676 adult fibrosarcoma MONDO:0005164 NCIT:C7809 NCIT:C3043 fibrosarcoma +MONDO:0002681 choroid plexus cancer MONDO:0001657 NCIT:C4533 NCIT:C3568 brain cancer +MONDO:0002682 cerebral ventricle cancer MONDO:0021211 NCIT:C2937 NCIT:C2907 brain neoplasm +MONDO:0002707 breast mucinous carcinoma MONDO:0004988 NCIT:C9131 NCIT:C5214 breast adenocarcinoma +MONDO:0002707 breast mucinous carcinoma MONDO:0006256 NCIT:C9131 NCIT:C9245 invasive breast carcinoma +MONDO:0002717 spinal cord intramedullary teratoma MONDO:0021234 NCIT:C5428 NCIT:C3381 spinal cord neoplasm +MONDO:0002734 anal mucinous adenocarcinoma MONDO:0004957 NCIT:C5606 NCIT:C26712 mucinous adenocarcinoma +MONDO:0002736 ampulla of vater mucinous adenocarcinoma MONDO:0004957 NCIT:C27416 NCIT:C26712 mucinous adenocarcinoma +MONDO:0002740 uterine ligament mucinous adenocarcinoma MONDO:0004957 NCIT:C40137 NCIT:C26712 mucinous adenocarcinoma +MONDO:0002741 uterine ligament adenocarcinoma MONDO:0004970 NCIT:C40135 NCIT:C2852 adenocarcinoma +MONDO:0002756 solitary plasmacytoma of chest wall MONDO:0021323 NCIT:C6711 NCIT:C4580 malignant neoplasm of chest wall +MONDO:0002790 seminal vesicle tumor MONDO:0024582 NCIT:C39908 NCIT:C3054 male reproductive system neoplasm +MONDO:0002889 orbital cancer MONDO:0005627 NCIT:C3562 NCIT:C4013 head and neck cancer +MONDO:0002898 skin cancer MONDO:0004992 NCIT:C2920 NCIT:C9305 cancer +MONDO:0002900 cerebral neuroblastoma MONDO:0002714 NCIT:C4826 NCIT:C4627 central nervous system cancer +MONDO:0002911 brain stem glioma MONDO:0021042 NCIT:C8501 NCIT:C3059 glioma +MONDO:0002914 childhood brain stem neoplasm MONDO:0021228 NCIT:C5969 NCIT:C4869 brainstem neoplasm +MONDO:0002923 uterine corpus endometrial stromal sarcoma MONDO:0011962 NCIT:C40219 NCIT:C27815 endometrial cancer +MONDO:0002935 penis basal cell carcinoma MONDO:0006360 NCIT:C39961 NCIT:C9061 penile carcinoma +MONDO:0002936 scrotum basal cell carcinoma MONDO:0002650 NCIT:C6386 NCIT:C6389 scrotal carcinoma +MONDO:0002940 anal margin basal cell carcinoma MONDO:0002941 NCIT:C7473 NCIT:C7472 anal margin carcinoma +MONDO:0002943 external ear basal cell carcinoma MONDO:0002944 NCIT:C6082 NCIT:C6081 external ear carcinoma +MONDO:0002955 vulva basal cell carcinoma MONDO:0005215 NCIT:C6381 NCIT:C4866 vulvar carcinoma +MONDO:0002957 sarcomatoid basal cell carcinoma MONDO:0006406 NCIT:C38111 NCIT:C27004 sarcomatoid carcinoma +MONDO:0002969 ciliary body cancer MONDO:0002659 NCIT:C4766 NCIT:C6105 uveal cancer +MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0021163 NCIT:C4524 NCIT:C3150 kidney neoplasm +MONDO:0003011 mucinous tubular and spindle renal cell carcinoma MONDO:0005206 NCIT:C39807 NCIT:C9384 renal carcinoma +MONDO:0003036 mucoepidermoid carcinoma MONDO:0020596 NCIT:C3772 NCIT:C27825 mucin-producing carcinoma +MONDO:0003046 anus neoplasm MONDO:0021223 NCIT:C2877 NCIT:C3052 digestive system neoplasm +MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0006451 NCIT:C6457 NCIT:C7569 thymic carcinoma +MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma MONDO:0003090 NCIT:C5862 NCIT:C3860 extrahepatic bile duct carcinoma +MONDO:0003092 lacrimal gland mucoepidermoid carcinoma MONDO:0002463 NCIT:C6091 NCIT:C6129 lacrimal gland carcinoma +MONDO:0003093 mucoepidermoid esophageal carcinoma MONDO:0019086 NCIT:C5343 NCIT:C3513 carcinoma of esophagus +MONDO:0003103 nerve root neoplasm MONDO:0021248 NCIT:C5119 NCIT:C3268 nervous system neoplasm +MONDO:0003104 epicardium cancer MONDO:0001340 NCIT:C4568 NCIT:C3548 heart cancer +MONDO:0003154 hemangioma of peripheral nerve MONDO:0000648 NCIT:C27507 NCIT:C4789 nervous system benign neoplasm +MONDO:0003154 hemangioma of peripheral nerve MONDO:0001406 NCIT:C27507 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0003154 hemangioma of peripheral nerve MONDO:0006500 NCIT:C27507 NCIT:C3085 hemangioma +MONDO:0003171 pineal gland astrocytoma MONDO:0021232 NCIT:C8274 NCIT:C3328 pineal body neoplasm +MONDO:0003171 pineal gland astrocytoma MONDO:0021631 NCIT:C8274 NCIT:C60780 brain astrocytoma +MONDO:0003181 lung adenoid cystic carcinoma MONDO:0005138 NCIT:C5666 NCIT:C4878 lung carcinoma +MONDO:0003186 esophageal adenoid cystic carcinoma MONDO:0019086 NCIT:C5342 NCIT:C3513 carcinoma of esophagus +MONDO:0003187 Bartholin gland adenoid cystic carcinoma MONDO:0002829 NCIT:C40295 NCIT:C9055 bartholin gland carcinoma +MONDO:0003191 rete ovarii adenocarcinoma MONDO:0001416 NCIT:C40017 NCIT:C4913 female reproductive organ cancer +MONDO:0003191 rete ovarii adenocarcinoma MONDO:0004970 NCIT:C40017 NCIT:C2852 adenocarcinoma +MONDO:0003192 rete ovarii neoplasm MONDO:0021148 NCIT:C40016 NCIT:C3053 female reproductive system neoplasm +MONDO:0003196 appendix carcinoma MONDO:0006181 NCIT:C9330 NCIT:C96963 digestive system carcinoma +MONDO:0003199 anal carcinoma MONDO:0006181 NCIT:C9291 NCIT:C96963 digestive system carcinoma +MONDO:0003205 renal pelvis adenocarcinoma MONDO:0004970 NCIT:C6143 NCIT:C2852 adenocarcinoma +MONDO:0003208 breast secretory carcinoma MONDO:0006256 NCIT:C4189 NCIT:C9245 invasive breast carcinoma +MONDO:0003210 intrahepatic cholangiocarcinoma MONDO:0018531 NCIT:C35417 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract +MONDO:0003223 meninges hemangiopericytoma MONDO:0016743 NCIT:C4660 NCIT:C3229 tumor of meninges +MONDO:0003249 pineal gland cancer MONDO:0002071 NCIT:C3573 NCIT:C4964 supratentorial cancer +MONDO:0003250 benign granular cell tumor MONDO:0000648 NCIT:C3252 NCIT:C4789 nervous system benign neoplasm +MONDO:0003254 cardiac granular cell neoplasm MONDO:0006235 NCIT:C5360 NCIT:C3474 granular cell tumor +MONDO:0003254 cardiac granular cell neoplasm MONDO:0021379 NCIT:C5360 NCIT:C5347 neoplasm of epicardium +MONDO:0003308 pleural mesothelioma MONDO:0006856 NCIT:C9351 NCIT:C3786 mesothelial neoplasm +MONDO:0003332 malignant struma ovarii MONDO:0002372 NCIT:C4291 NCIT:C8113 ovarian monodermal and highly specialized teratoma +MONDO:0003332 malignant struma ovarii MONDO:0018171 NCIT:C4291 NCIT:C4514 malignant germ cell tumor of ovary +MONDO:0003343 retinal hemangioblastoma MONDO:0021231 NCIT:C39783 NCIT:C4800 retina neoplasm +MONDO:0003345 hilar cholangiocarcinoma MONDO:0019087 NCIT:C36077 NCIT:C4436 cholangiocarcinoma +MONDO:0003350 granular cell leiomyosarcoma MONDO:0005058 NCIT:C27494 NCIT:C3158 leiomyosarcoma +MONDO:0003384 uterine ligament clear cell adenocarcinoma MONDO:0005004 NCIT:C40139 NCIT:C3766 clear cell adenocarcinoma +MONDO:0003386 bladder clear cell adenocarcinoma MONDO:0004986 NCIT:C6179 NCIT:C4912 urinary bladder carcinoma +MONDO:0003388 ampulla of vater clear cell adenocarcinoma MONDO:0005004 NCIT:C27414 NCIT:C3766 clear cell adenocarcinoma +MONDO:0003399 pineal region yolk sac tumor MONDO:0016739 NCIT:C6752 NCIT:C7011 yolk sac tumor of central nervous system +MONDO:0003420 bile duct cystadenoma MONDO:0021662 NCIT:C4129 NCIT:C2898 bile duct neoplasm +MONDO:0003423 middle ear adenoma MONDO:0021366 NCIT:C6834 NCIT:C4412 neoplasm of middle ear +MONDO:0003428 brain hemangioma MONDO:0021451 NCIT:C7739 NCIT:C4781 benign neoplasm of brain +MONDO:0003429 functioning pituitary gland adenoma MONDO:0021120 NCIT:C8388 NCIT:C94759 functioning endocrine neoplasm +MONDO:0003455 bile duct papillary neoplasm MONDO:0021096 NCIT:C6881 NCIT:C8429 papillary epithelial neoplasm +MONDO:0003473 spinal cord ependymoma MONDO:0002542 NCIT:C3875 NCIT:C4534 spinal cord glioma +MONDO:0003481 dysgerminoma of ovary MONDO:0020580 NCIT:C8106 NCIT:C121618 germinomatous germ cell tumor +MONDO:0003490 ampulla of vater squamous cell carcinoma MONDO:0005096 NCIT:C27417 NCIT:C2929 squamous cell carcinoma +MONDO:0003492 lacrimal gland squamous cell carcinoma MONDO:0005096 NCIT:C6092 NCIT:C2929 squamous cell carcinoma +MONDO:0003504 anal canal neuroendocrine neoplasm MONDO:0003046 NCIT:C5603 NCIT:C2877 anus neoplasm +MONDO:0003504 anal canal neuroendocrine neoplasm MONDO:0024503 NCIT:C5603 NCIT:C27721 digestive system neuroendocrine neoplasm +MONDO:0003508 choriocarcinoma of testis MONDO:0002874 NCIT:C7733 NCIT:C39915 testicular pure germ cell tumor +MONDO:0003532 breast papillary carcinoma MONDO:0004988 NCIT:C9134 NCIT:C5214 breast adenocarcinoma +MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0019086 NCIT:C27421 NCIT:C3513 carcinoma of esophagus +MONDO:0003551 thymic adenosquamous carcinoma MONDO:0006451 NCIT:C6458 NCIT:C7569 thymic carcinoma +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0006074 NCIT:C27418 NCIT:C3727 adenosquamous carcinoma +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0017590 NCIT:C27418 NCIT:C3908 carcinoma of the ampulla of vater +MONDO:0003554 adenosquamous colon carcinoma MONDO:0002032 NCIT:C5491 NCIT:C4910 colon carcinoma +MONDO:0003555 Bartholin gland adenosquamous carcinoma MONDO:0002829 NCIT:C40296 NCIT:C9055 bartholin gland carcinoma +MONDO:0003556 endometrial adenosquamous carcinoma MONDO:0002447 NCIT:C114656 NCIT:C7558 endometrial carcinoma +MONDO:0003578 extragonadal nonseminomatous germ cell tumor MONDO:0021656 NCIT:C8885 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0003610 rete ovarii cystadenoma MONDO:0002369 NCIT:C40019 NCIT:C2972 cystadenoma +MONDO:0003610 rete ovarii cystadenoma MONDO:0003192 NCIT:C40019 NCIT:C40016 rete ovarii neoplasm +MONDO:0003612 uterine ligament cancer MONDO:0001416 NCIT:C126498 NCIT:C4913 female reproductive organ cancer +MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor MONDO:0019954 NCIT:C27454 NCIT:C27720 pancreatic neuroendocrine tumor +MONDO:0003624 acinic cell breast carcinoma MONDO:0004988 NCIT:C40367 NCIT:C5214 breast adenocarcinoma +MONDO:0003624 acinic cell breast carcinoma MONDO:0006256 NCIT:C40367 NCIT:C9245 invasive breast carcinoma +MONDO:0003638 lung meningioma MONDO:0021117 NCIT:C5668 NCIT:C3200 lung neoplasm +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0002165 NCIT:C5698 NCIT:C3350 rectal neoplasm +MONDO:0003663 uterine ligament endometrioid adenocarcinoma MONDO:0005026 NCIT:C40138 NCIT:C3769 endometrioid adenocarcinoma +MONDO:0003680 periosteal chondrosarcoma MONDO:0008977 NCIT:C7357 NCIT:C2946 chondrosarcoma +MONDO:0003684 clear cell chondrosarcoma MONDO:0008977 NCIT:C6475 NCIT:C2946 chondrosarcoma +MONDO:0003688 well differentiated papillary mesothelioma MONDO:0006856 NCIT:C7635 NCIT:C3786 mesothelial neoplasm +MONDO:0003746 ciliary body spindle cell melanoma MONDO:0003744 NCIT:C6117 NCIT:C7986 spindle cell intraocular melanoma +MONDO:0003761 leptomeningeal melanoma MONDO:0006320 NCIT:C5317 NCIT:C8711 non-cutaneous melanoma +MONDO:0003772 cerebral meningioma MONDO:0021374 NCIT:C4807 NCIT:C4874 neoplasm of cerebral hemisphere +MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004949 NCIT:C27911 NCIT:C27910 neoplasm of mature B-cells +MONDO:0003886 mucinous cystadenofibroma MONDO:0000624 NCIT:C8979 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0003901 cerebellar hemangioblastoma MONDO:0002913 NCIT:C5146 NCIT:C2935 cerebellar neoplasm +MONDO:0003912 malignant ciliary body melanoma MONDO:0006486 NCIT:C4558 NCIT:C7712 uveal melanoma +MONDO:0003924 adrenal cortex adenoma MONDO:0000627 NCIT:C9003 NCIT:C4621 benign endocrine neoplasm +MONDO:0003931 childhood optic tract astrocytoma MONDO:0021631 NCIT:C7534 NCIT:C60780 brain astrocytoma +MONDO:0003932 childhood optic nerve glioma MONDO:0016167 NCIT:C7535 NCIT:C8567 optic pathway glioma +MONDO:0003934 breast apocrine carcinoma MONDO:0004988 NCIT:C5141 NCIT:C5214 breast adenocarcinoma +MONDO:0003936 invasive tubular breast carcinoma MONDO:0004988 NCIT:C9135 NCIT:C5214 breast adenocarcinoma +MONDO:0003936 invasive tubular breast carcinoma MONDO:0006256 NCIT:C9135 NCIT:C9245 invasive breast carcinoma +MONDO:0003979 intrahepatic bile duct cystadenoma MONDO:0024477 NCIT:C96835 NCIT:C7106 liver and intrahepatic bile duct neoplasm +MONDO:0004005 rete ovarii adenoma MONDO:0000624 NCIT:C40018 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0004005 rete ovarii adenoma MONDO:0004972 NCIT:C40018 NCIT:C2855 adenoma +MONDO:0004005 rete ovarii adenoma MONDO:0036976 NCIT:C40018 NCIT:C4092 benign epithelial neoplasm +MONDO:0004066 intermediate cell type ciliary body melanoma MONDO:0004062 NCIT:C6118 NCIT:C7989 intermediate cell type uveal melanoma +MONDO:0004078 mucinous intrahepatic cholangiocarcinoma MONDO:0004957 NCIT:C41618 NCIT:C26712 mucinous adenocarcinoma +MONDO:0004079 lung mucous gland adenoma MONDO:0003422 NCIT:C5664 NCIT:C4455 lung adenoma +MONDO:0004095 B-cell neoplasm MONDO:0005157 NCIT:C27907 NCIT:C7065 lymphoid neoplasm +MONDO:0004131 anal verrucous carcinoma MONDO:0006006 NCIT:C7470 NCIT:C3781 verrucous carcinoma +MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0002116 NCIT:C41246 NCIT:C7430 malignant exocrine pancreas neoplasm +MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0005858 NCIT:C41246 NCIT:C3776 mucinous cystadenocarcinoma +MONDO:0004173 adenocarcinoma of skene gland origin MONDO:0004970 NCIT:C39863 NCIT:C2852 adenocarcinoma +MONDO:0004230 adenomatoid tumor MONDO:0006856 NCIT:C3762 NCIT:C3786 mesothelial neoplasm +MONDO:0004255 Wolffian adnexal tumor MONDO:0021148 NCIT:C40141 NCIT:C3053 female reproductive system neoplasm +MONDO:0004311 carcinoma of Cowper glands MONDO:0004197 NCIT:C39864 NCIT:C39867 male urethral cancer +MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor MONDO:0019954 NCIT:C27466 NCIT:C27720 pancreatic neuroendocrine tumor +MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma MONDO:0005092 NCIT:C41619 NCIT:C3774 signet ring cell carcinoma +MONDO:0004412 malignant spiradenoma MONDO:0005524 NCIT:C5117 NCIT:C6938 sweat gland carcinoma +MONDO:0004420 breast malignant eccrine spiradenoma MONDO:0007254 NCIT:C5180 NCIT:C9335 breast cancer +MONDO:0004462 extrahepatic bile duct cystadenoma MONDO:0021385 NCIT:C5851 NCIT:C4441 extrahepatic bile duct neoplasm +MONDO:0004465 periampullary adenocarcinoma MONDO:0006186 NCIT:C27322 NCIT:C7889 duodenal adenocarcinoma +MONDO:0004473 epiglottis cancer MONDO:0001724 NCIT:C4836 NCIT:C3545 supraglottis cancer +MONDO:0004477 adrenal gland ganglioneuroblastoma MONDO:0003606 NCIT:C7646 NCIT:C4396 adrenal medulla cancer +MONDO:0004509 intrahepatic biliary papillomatosis MONDO:0024477 NCIT:C7125 NCIT:C7106 liver and intrahepatic bile duct neoplasm +MONDO:0004555 kidney angiomyolipoma MONDO:0021163 NCIT:C3888 NCIT:C3150 kidney neoplasm +MONDO:0004643 myeloid leukemia MONDO:0005170 NCIT:C3172 NCIT:C9290 myeloid neoplasm +MONDO:0004643 myeloid leukemia MONDO:0021138 NCIT:C3172 NCIT:C35501 bone marrow cancer +MONDO:0004820 peripheral nerve schwannoma MONDO:0001406 NCIT:C41430 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0004947 B-cell acute lymphoblastic leukemia MONDO:0003538 NCIT:C8936 NCIT:C7055 precursor lymphoblastic lymphoma/leukemia +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0005402 NCIT:C3163 NCIT:C7539 lymphoid leukemia +MONDO:0004957 mucinous adenocarcinoma MONDO:0024338 NCIT:C26712 NCIT:C7070 mucinous neoplasm +MONDO:0004971 adenoid cystic carcinoma MONDO:0004993 NCIT:C2970 NCIT:C2916 carcinoma +MONDO:0004973 adenosquamous lung carcinoma MONDO:0005233 NCIT:C9133 NCIT:C2926 non-small cell lung carcinoma +MONDO:0004984 basal-like breast carcinoma MONDO:0006116 NCIT:C53558 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0005013 dedifferentiated chondrosarcoma MONDO:0008977 NCIT:C6476 NCIT:C2946 chondrosarcoma +MONDO:0005032 follicular thyroid adenoma MONDO:0000627 NCIT:C3502 NCIT:C4621 benign endocrine neoplasm +MONDO:0005055 Kaposi's sarcoma MONDO:0002095 NCIT:C9087 NCIT:C8538 vascular cancer +MONDO:0005058 leiomyosarcoma MONDO:0005089 NCIT:C3158 NCIT:C9118 sarcoma +MONDO:0005060 liposarcoma MONDO:0005089 NCIT:C3194 NCIT:C9118 sarcoma +MONDO:0005060 liposarcoma MONDO:0021354 NCIT:C3194 NCIT:C4248 tumor of adipose tissue +MONDO:0005070 neoplasm MONDO:0000001 NCIT:C3262 NCIT:C2991 disease +MONDO:0005073 melanocytic nevus MONDO:0021143 NCIT:C7570 NCIT:C7058 melanocytic neoplasm +MONDO:0005164 fibrosarcoma MONDO:0005089 NCIT:C3043 NCIT:C9118 sarcoma +MONDO:0005212 rhabdomyosarcoma MONDO:0005089 NCIT:C3359 NCIT:C9118 sarcoma +MONDO:0005220 collecting duct carcinoma MONDO:0005206 NCIT:C6194 NCIT:C9384 renal carcinoma +MONDO:0005341 skin basal cell carcinoma MONDO:0002656 NCIT:C2921 NCIT:C4914 skin carcinoma +MONDO:0005440 embryonal carcinoma MONDO:0006290 NCIT:C3752 NCIT:C4925 malignant germ cell tumor +MONDO:0005440 embryonal carcinoma MONDO:0021656 NCIT:C3752 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0005494 triple-negative breast carcinoma MONDO:0006116 NCIT:C71732 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0005496 bile duct carcinoma MONDO:0021662 NCIT:C27814 NCIT:C2898 bile duct neoplasm +MONDO:0005549 renal cell adenocarcinoma MONDO:0004970 NCIT:C9385 NCIT:C2852 adenocarcinoma +MONDO:0005549 renal cell adenocarcinoma MONDO:0005206 NCIT:C9385 NCIT:C9384 renal carcinoma +MONDO:0005563 nut midline carcinoma MONDO:0004993 NCIT:C45716 NCIT:C2916 carcinoma +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0005192 NCIT:C5721 NCIT:C3850 exocrine pancreatic carcinoma +MONDO:0005616 pulmonary mucoepidermoid carcinoma MONDO:0005138 NCIT:C45544 NCIT:C4878 lung carcinoma +MONDO:0005744 yolk sac tumor MONDO:0006290 NCIT:C3011 NCIT:C4925 malignant germ cell tumor +MONDO:0005744 yolk sac tumor MONDO:0021656 NCIT:C3011 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0005764 follicular dendritic cell sarcoma MONDO:0005089 NCIT:C9281 NCIT:C9118 sarcoma +MONDO:0005764 follicular dendritic cell sarcoma MONDO:0006247 NCIT:C9281 NCIT:C9294 histiocytic and dendritic cell neoplasm +MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:0005089 NCIT:C9282 NCIT:C9118 sarcoma +MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:0006247 NCIT:C9282 NCIT:C9294 histiocytic and dendritic cell neoplasm +MONDO:0005837 mandibular cancer MONDO:0002129 NCIT:C35178 NCIT:C4016 bone cancer +MONDO:0005966 spleen cancer MONDO:0004992 NCIT:C3539 NCIT:C9305 cancer +MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0002911 NCIT:C94764 NCIT:C8501 brain stem glioma +MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0002912 NCIT:C94764 NCIT:C3570 brainstem cancer +MONDO:0006034 gastric adenosquamous carcinoma MONDO:0004950 NCIT:C5474 NCIT:C4911 gastric carcinoma +MONDO:0006056 squamous cell breast carcinoma MONDO:0006256 NCIT:C5177 NCIT:C9245 invasive breast carcinoma +MONDO:0006081 anal melanoma MONDO:0045070 NCIT:C4639 NCIT:C7091 digestive system melanoma +MONDO:0006082 anal squamous cell carcinoma MONDO:0005096 NCIT:C9161 NCIT:C2929 squamous cell carcinoma +MONDO:0006087 appendix adenocarcinoma MONDO:0004970 NCIT:C7718 NCIT:C2852 adenocarcinoma +MONDO:0006088 appendix adenoma MONDO:0006180 NCIT:C43550 NCIT:C36207 digestive system adenoma +MONDO:0006092 appendix villous adenoma MONDO:0000502 NCIT:C5512 NCIT:C7399 villous adenoma +MONDO:0006132 cervical adenoid basal carcinoma MONDO:0005131 NCIT:C40213 NCIT:C9039 cervical carcinoma +MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0005131 NCIT:C6346 NCIT:C9039 cervical carcinoma +MONDO:0006134 cervical adenosquamous carcinoma MONDO:0005131 NCIT:C4519 NCIT:C9039 cervical carcinoma +MONDO:0006157 colorectal adenosquamous carcinoma MONDO:0024331 NCIT:C43589 NCIT:C2955 colorectal carcinoma +MONDO:0006173 conjunctival squamous cell carcinoma MONDO:0005096 NCIT:C4549 NCIT:C2929 squamous cell carcinoma +MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma MONDO:0003090 NCIT:C5778 NCIT:C3860 extrahepatic bile duct carcinoma +MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma MONDO:0006074 NCIT:C5778 NCIT:C3727 adenosquamous carcinoma +MONDO:0006203 extrahepatic bile duct squamous cell carcinoma MONDO:0005096 NCIT:C5777 NCIT:C2929 squamous cell carcinoma +MONDO:0006207 fallopian tube carcinosarcoma MONDO:0002158 NCIT:C40124 NCIT:C7480 fallopian tube cancer +MONDO:0006217 gallbladder adenosquamous carcinoma MONDO:0003220 NCIT:C7356 NCIT:C3844 gallbladder carcinoma +MONDO:0006232 giant cell tumor of soft tissue MONDO:0002171 NCIT:C49107 NCIT:C3055 giant cell tumor +MONDO:0006260 kidney medullary carcinoma MONDO:0005206 NCIT:C7572 NCIT:C9384 renal carcinoma +MONDO:0006262 lacrimal gland adenoid cystic carcinoma MONDO:0002463 NCIT:C4540 NCIT:C6129 lacrimal gland carcinoma +MONDO:0006270 lobular breast carcinoma in situ MONDO:0004658 NCIT:C4018 NCIT:C3641 breast carcinoma in situ +MONDO:0006279 lung sarcomatoid carcinoma MONDO:0005233 NCIT:C45540 NCIT:C2926 non-small cell lung carcinoma +MONDO:0006283 lymphoepithelioma-like lung carcinoma MONDO:0005233 NCIT:C45519 NCIT:C2926 non-small cell lung carcinoma +MONDO:0006288 malignant adrenal gland pheochromocytoma MONDO:0003606 NCIT:C4220 NCIT:C4396 adrenal medulla cancer +MONDO:0006292 malignant mesothelioma MONDO:0006856 NCIT:C4456 NCIT:C3786 mesothelial neoplasm +MONDO:0006311 myelodysplastic/myeloproliferative neoplasm MONDO:0005170 NCIT:C27262 NCIT:C9290 myeloid neoplasm +MONDO:0006311 myelodysplastic/myeloproliferative neoplasm MONDO:0021138 NCIT:C27262 NCIT:C35501 bone marrow cancer +MONDO:0006317 neurothekeoma MONDO:0001406 NCIT:C7018 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0006362 peritoneal mesothelioma MONDO:0006856 NCIT:C7633 NCIT:C3786 mesothelial neoplasm +MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0017595 NCIT:C45194 NCIT:C178541 aggressive B-cell non-Hodgkin lymphoma +MONDO:0006386 primary peritoneal serous adenocarcinoma MONDO:0005278 NCIT:C40023 NCIT:C40101 serous adenocarcinoma +MONDO:0006401 salivary gland adenosquamous carcinoma MONDO:0000521 NCIT:C35737 NCIT:C9272 salivary gland carcinoma +MONDO:0006402 salivary gland basal cell adenocarcinoma MONDO:0020804 NCIT:C3678 NCIT:C156767 basal cell carcinoma +MONDO:0006450 therapy-related myeloid neoplasm MONDO:0005170 NCIT:C27912 NCIT:C9290 myeloid neoplasm +MONDO:0006450 therapy-related myeloid neoplasm MONDO:0021138 NCIT:C27912 NCIT:C35501 bone marrow cancer +MONDO:0006463 thyroid gland mucoepidermoid carcinoma MONDO:0015075 NCIT:C38762 NCIT:C4815 thyroid gland carcinoma +MONDO:0006487 vaginal adenoid cystic carcinoma MONDO:0015867 NCIT:C40261 NCIT:C3917 vaginal carcinoma +MONDO:0006493 Warthin tumor MONDO:0004972 NCIT:C2854 NCIT:C2855 adenoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0001502 NCIT:C9325 NCIT:C7352 retroperitoneum carcinoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0004970 NCIT:C9325 NCIT:C2852 adenocarcinoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0021069 NCIT:C9325 NCIT:C3575 malignant endocrine neoplasm +MONDO:0006861 myeloid sarcoma MONDO:0004992 NCIT:C3520 NCIT:C9305 cancer +MONDO:0006861 myeloid sarcoma MONDO:0005170 NCIT:C3520 NCIT:C9290 myeloid neoplasm +MONDO:0006890 parathyroid gland adenoma MONDO:0000627 NCIT:C156757 NCIT:C4621 benign endocrine neoplasm +MONDO:0006976 somatostatinoma MONDO:0000386 NCIT:C3379 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0007254 breast cancer MONDO:0004992 NCIT:C9335 NCIT:C9305 cancer +MONDO:0007667 subependymoma MONDO:0003266 NCIT:C3795 NCIT:C6770 ependymal tumor +MONDO:0008075 schwannomatosis MONDO:0015356 NCIT:C6557 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0008380 retinoblastoma MONDO:0003072 NCIT:C7541 NCIT:C3216 retinal cancer +MONDO:0008380 retinoblastoma MONDO:0024341 NCIT:C7541 NCIT:C7061 retinal cell neoplasm +MONDO:0009755 neutrophil actin dysfunction MONDO:0021583 NCIT:C3694 NCIT:C7161 melanocytic skin neoplasm +MONDO:0010108 testicular germ cell tumor MONDO:0002259 NCIT:C8591 NCIT:C26786 gonadal disorder +MONDO:0010108 testicular germ cell tumor MONDO:0005040 NCIT:C8591 NCIT:C3708 germ cell tumor +MONDO:0011014 pleuropulmonary blastoma MONDO:0005565 NCIT:C5669 NCIT:C8997 blastoma +MONDO:0011366 ovarian germ cell tumor MONDO:0002259 NCIT:C3873 NCIT:C26786 gonadal disorder +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0020076 NCIT:C3174 NCIT:C4345 myeloproliferative neoplasm +MONDO:0012004 parathyroid gland carcinoma MONDO:0021069 NCIT:C4906 NCIT:C3575 malignant endocrine neoplasm +MONDO:0013280 myxoid liposarcoma MONDO:0005060 NCIT:C27781 NCIT:C3194 liposarcoma +MONDO:0015032 intraneural perineurioma MONDO:0001406 NCIT:C6911 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0015041 myelodysplastic syndrome with excess blasts-2 MONDO:0018881 NCIT:C7168 NCIT:C3247 myelodysplastic syndrome +MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0021375 NCIT:C135080 NCIT:C2995 tumor of duodenum +MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0000386 NCIT:C96422 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0000386 NCIT:C96540 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0015075 NCIT:C3879 NCIT:C4815 thyroid gland carcinoma +MONDO:0015686 primary peritoneal carcinoma MONDO:0002087 NCIT:C40022 NCIT:C3538 peritoneum cancer +MONDO:0015686 primary peritoneal carcinoma MONDO:0004993 NCIT:C40022 NCIT:C2916 carcinoma +MONDO:0015814 primary cutaneous follicle center lymphoma MONDO:0017594 NCIT:C7217 NCIT:C171299 indolent B-cell non-Hodgkin lymphoma +MONDO:0015863 polyembryoma MONDO:0006290 NCIT:C66776 NCIT:C4925 malignant germ cell tumor +MONDO:0016039 infantile digital fibromatosis MONDO:0005031 NCIT:C3456 NCIT:C3042 fibromatosis +MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0006003 NCIT:C9180 NCIT:C61574 uterine corpus cancer +MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0018078 NCIT:C128048 NCIT:C9306 soft tissue sarcoma +MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0018078 NCIT:C128047 NCIT:C9306 soft tissue sarcoma +MONDO:0016683 gliomatosis cerebri MONDO:0001657 NCIT:C4318 NCIT:C3568 brain cancer +MONDO:0016686 diffuse astrocytoma MONDO:0021638 NCIT:C7173 NCIT:C116342 low grade astrocytic tumor +MONDO:0016690 pleomorphic xanthoastrocytoma MONDO:0019781 NCIT:C4323 NCIT:C60781 astrocytoma (excluding glioblastoma) +MONDO:0016691 pilocytic astrocytoma MONDO:0021638 NCIT:C4047 NCIT:C116342 low grade astrocytic tumor +MONDO:0016692 pilomyxoid astrocytoma MONDO:0019781 NCIT:C40315 NCIT:C60781 astrocytoma (excluding glioblastoma) +MONDO:0016693 subependymal giant cell astrocytoma MONDO:0021638 NCIT:C3696 NCIT:C116342 low grade astrocytic tumor +MONDO:0016703 anaplastic oligoastrocytoma MONDO:0003268 NCIT:C6959 NCIT:C3903 mixed glioma +MONDO:0016706 chordoid glioma of the third ventricle MONDO:0021042 NCIT:C5592 NCIT:C3059 glioma +MONDO:0016734 anaplastic ganglioglioma MONDO:0016729 NCIT:C4717 NCIT:C4747 mixed neuronal-glial tumor +MONDO:0016739 yolk sac tumor of central nervous system MONDO:0003578 NCIT:C7011 NCIT:C8885 extragonadal nonseminomatous germ cell tumor +MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0015864 NCIT:C7016 NCIT:C4290 mixed germ cell tumor +MONDO:0016755 neurofibroma MONDO:0001406 NCIT:C3272 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0016982 angiosarcoma MONDO:0005089 NCIT:C3088 NCIT:C9118 sarcoma +MONDO:0017048 pseudomyxoma peritonei MONDO:0004957 NCIT:C3345 NCIT:C26712 mucinous adenocarcinoma +MONDO:0017169 multiple endocrine neoplasia MONDO:0021058 NCIT:C6432 NCIT:C54705 neoplastic syndrome +MONDO:0017364 POEMS syndrome MONDO:0002254 NCIT:C80303 NCIT:C28193 syndromic disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0021069 NCIT:C4536 NCIT:C3575 malignant endocrine neoplasm +MONDO:0017600 hairy cell leukemia variant MONDO:0001014 NCIT:C7401 NCIT:C3483 chronic leukemia +MONDO:0017600 hairy cell leukemia variant MONDO:0005402 NCIT:C7401 NCIT:C7539 lymphoid leukemia +MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0005089 NCIT:C3798 NCIT:C9118 sarcoma +MONDO:0018171 malignant germ cell tumor of ovary MONDO:0008170 NCIT:C4514 NCIT:C7431 ovarian cancer +MONDO:0018172 malignant sex cord stromal tumor of ovary MONDO:0008170 NCIT:C8053 NCIT:C7431 ovarian cancer +MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0004957 NCIT:C43558 NCIT:C26712 mucinous adenocarcinoma +MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0019086 NCIT:C27422 NCIT:C3513 carcinoma of esophagus +MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0024477 NCIT:C7927 NCIT:C7106 liver and intrahepatic bile duct neoplasm +MONDO:0018689 plasma cell leukemia MONDO:0005059 NCIT:C3180 NCIT:C3161 leukemia +MONDO:0018744 oligodendroglial tumor MONDO:0021042 NCIT:C6960 NCIT:C3059 glioma +MONDO:0018935 hairy cell leukemia MONDO:0001014 NCIT:C7402 NCIT:C3483 chronic leukemia +MONDO:0018935 hairy cell leukemia MONDO:0004949 NCIT:C7402 NCIT:C27910 neoplasm of mature B-cells +MONDO:0018935 hairy cell leukemia MONDO:0005402 NCIT:C7402 NCIT:C7539 lymphoid leukemia +MONDO:0019060 bone neoplasm MONDO:0003900 NCIT:C9343 NCIT:C26729 connective tissue disorder +MONDO:0019087 cholangiocarcinoma MONDO:0003193 NCIT:C4436 NCIT:C27813 bile duct adenocarcinoma +MONDO:0019460 acute leukemia of ambiguous lineage MONDO:0010643 NCIT:C7464 NCIT:C9300 acute leukemia +MONDO:0019464 heavy chain disease MONDO:0004949 NCIT:C3082 NCIT:C27910 neoplasm of mature B-cells +MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0005169 NCIT:C4752 NCIT:C27909 neoplasm of mature T-cells or NK-cells +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0005169 NCIT:C4664 NCIT:C27909 neoplasm of mature T-cells or NK-cells +MONDO:0019470 aggressive NK-cell leukemia MONDO:0005169 NCIT:C8647 NCIT:C27909 neoplasm of mature T-cells or NK-cells +MONDO:0019470 aggressive NK-cell leukemia MONDO:0005402 NCIT:C8647 NCIT:C7539 lymphoid leukemia +MONDO:0019480 Langerhans cell sarcoma MONDO:0005089 NCIT:C6921 NCIT:C9118 sarcoma +MONDO:0019613 non-functioning pituitary adenoma MONDO:0021119 NCIT:C4348 NCIT:C94760 non-functioning endocrine neoplasm +MONDO:0019960 VIPoma MONDO:0000386 NCIT:C26749 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0020179 palpebral nevus MONDO:0021605 NCIT:C3880 NCIT:C4354 benign eyelid neoplasm +MONDO:0020513 spermatocytic seminoma MONDO:0003510 NCIT:C39921 NCIT:C9063 malignant testicular germ cell tumor +MONDO:0020520 adult pulmonary Langerhans cell histiocytosis MONDO:0021117 NCIT:C142833 NCIT:C3200 lung neoplasm +MONDO:0020549 invasive hydatidiform mole MONDO:0021218 NCIT:C6985 NCIT:C4858 placenta neoplasm +MONDO:0020574 central nervous system nongerminomatous germ cell tumor MONDO:0021656 NCIT:C100093 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0020582 benign uterine ligament neoplasm MONDO:0000624 NCIT:C126493 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0020703 erythroid neoplasm MONDO:0005170 NCIT:C7064 NCIT:C9290 myeloid neoplasm +MONDO:0020703 erythroid neoplasm MONDO:0021138 NCIT:C7064 NCIT:C35501 bone marrow cancer +MONDO:0020809 benign sertoli cell tumor MONDO:0000383 NCIT:C67012 NCIT:C7617 benign reproductive system neoplasm +MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0003036 NCIT:C5908 NCIT:C3772 mucoepidermoid carcinoma +MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0004211 NCIT:C27445 NCIT:C27448 L-cell glucagon-like peptide-producing neuroendocrine tumor +MONDO:0021115 luminal B breast carcinoma MONDO:0006116 NCIT:C53555 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0021116 luminal A breast carcinoma MONDO:0006116 NCIT:C53554 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0021138 bone marrow cancer MONDO:0004992 NCIT:C35501 NCIT:C9305 cancer +MONDO:0021218 placenta neoplasm MONDO:0021148 NCIT:C4858 NCIT:C3053 female reproductive system neoplasm +MONDO:0021229 ciliary body neoplasm MONDO:0021225 NCIT:C4364 NCIT:C3436 uvea neoplasm +MONDO:0021275 papilloma of eyelid MONDO:0002363 NCIT:C4061 NCIT:C7440 papilloma +MONDO:0021281 cavernous hemangioma of retina MONDO:0003155 NCIT:C4921 NCIT:C3086 cavernous hemangioma +MONDO:0021281 cavernous hemangioma of retina MONDO:0021453 NCIT:C4921 NCIT:C3624 benign neoplasm of retina +MONDO:0021301 adenoma of nipple MONDO:0004972 NCIT:C4192 NCIT:C2855 adenoma +MONDO:0021301 adenoma of nipple MONDO:0036976 NCIT:C4192 NCIT:C4092 benign epithelial neoplasm +MONDO:0021333 carcinoma of lip MONDO:0023644 NCIT:C3490 NCIT:C9315 lip and oral cavity carcinoma +MONDO:0021427 squamous cell carcinoma of lip MONDO:0044710 NCIT:C4042 NCIT:C42690 lip and oral cavity squamous cell carcinoma +MONDO:0021440 benign neoplasm of skin MONDO:0005165 NCIT:C2896 NCIT:C3677 benign neoplasm +MONDO:0021443 benign neoplasm of lymph node MONDO:0005165 NCIT:C3636 NCIT:C3677 benign neoplasm +MONDO:0021454 benign neoplasm of eye MONDO:0005165 NCIT:C4780 NCIT:C3677 benign neoplasm +MONDO:0021465 benign neoplasm of appendix MONDO:0000385 NCIT:C4773 NCIT:C4787 benign digestive system neoplasm +MONDO:0021469 benign neoplasm of anus MONDO:0000385 NCIT:C4611 NCIT:C4787 benign digestive system neoplasm +MONDO:0021498 benign neoplasm of placenta MONDO:0000624 NCIT:C8545 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0021500 benign neoplasm of spleen MONDO:0005165 NCIT:C4902 NCIT:C3677 benign neoplasm +MONDO:0021629 uterine ligament neoplasm MONDO:0021148 NCIT:C40133 NCIT:C3053 female reproductive system neoplasm +MONDO:0021662 bile duct neoplasm MONDO:0002514 NCIT:C2898 NCIT:C8614 hepatobiliary neoplasm +MONDO:0023597 laryngeal papillomatosis MONDO:0021071 NCIT:C157733 NCIT:C3156 laryngeal neoplasm +MONDO:0024501 appendix neuroendocrine neoplasm MONDO:0024503 NCIT:C60709 NCIT:C27721 digestive system neuroendocrine neoplasm +MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0019954 NCIT:C4446 NCIT:C27720 pancreatic neuroendocrine tumor +MONDO:0024611 orbit neoplasm MONDO:0005586 NCIT:C3290 NCIT:C3077 head and neck neoplasm +MONDO:0024622 thyroid gland adenocarcinoma MONDO:0021069 NCIT:C27380 NCIT:C3575 malignant endocrine neoplasm +MONDO:0024649 optic tract astrocytoma MONDO:0019781 NCIT:C7533 NCIT:C60781 astrocytoma (excluding glioblastoma) +MONDO:0024663 primary skin meningioma MONDO:0002300 NCIT:C5277 NCIT:C4475 dermis tumor +MONDO:0024863 small size posterior uveal melanoma MONDO:0006486 NCIT:C9089 NCIT:C7712 uveal melanoma +MONDO:0024864 medium/large size posterior uveal melanoma MONDO:0006486 NCIT:C9090 NCIT:C7712 uveal melanoma +MONDO:0024868 metastatic carcinoma in the adrenal medulla MONDO:0003606 NCIT:C9276 NCIT:C4396 adrenal medulla cancer +MONDO:0040676 great vessel cancer MONDO:0002100 NCIT:C4575 NCIT:C114940 cardiovascular cancer +MONDO:0042487 uterine cervix carcinoma in situ MONDO:0004647 NCIT:C4000 NCIT:C2917 in situ carcinoma +MONDO:0044740 salivary gland squamous cell carcinoma MONDO:0010150 NCIT:C7991 NCIT:C34447 head and neck squamous cell carcinoma +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0004970 NCIT:C3828 NCIT:C2852 adenocarcinoma +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0018531 NCIT:C3828 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract +MONDO:0044794 benign melanocytic skin nevus MONDO:0021440 NCIT:C7571 NCIT:C2896 benign neoplasm of skin +MONDO:0044794 benign melanocytic skin nevus MONDO:0021583 NCIT:C7571 NCIT:C7161 melanocytic skin neoplasm +MONDO:0044881 hematopoietic and lymphoid cell neoplasm MONDO:0005570 NCIT:C27134 NCIT:C26323 hematologic disorder +MONDO:0044887 central nervous system non-hodgkin lymphoma MONDO:0018908 NCIT:C114779 NCIT:C3211 non-Hodgkin lymphoma +MONDO:0045068 minor salivary gland adenoid cystic carcinoma MONDO:0045069 NCIT:C5936 NCIT:C5957 minor salivary gland carcinoma +MONDO:0056805 benign peripheral nerve granular cell tumor MONDO:0001406 NCIT:C5502 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0056815 liver adenosquamous carcinoma MONDO:0018531 NCIT:C118630 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract +MONDO:0056817 rectal adenosquamous carcinoma MONDO:0044937 NCIT:C43594 NCIT:C9382 rectal carcinoma +MONDO:0056818 skin adenosquamous carcinoma MONDO:0002656 NCIT:C54250 NCIT:C4914 skin carcinoma +MONDO:0200000 uterine ligament adenosarcoma MONDO:0005636 NCIT:C102570 NCIT:C9474 adenosarcoma +MONDO:0700140 canine osteosarcoma MONDO:0700139 NCIT:C120045 NCIT:C134526 canine neoplasm +MONDO:0700142 canine hemangiosarcoma MONDO:0700139 NCIT:C122783 NCIT:C134526 canine neoplasm +MONDO:0700143 canine mammary carcinoma MONDO:0700139 NCIT:C124249 NCIT:C134526 canine neoplasm +MONDO:0700146 canine prostate carcinoma MONDO:0700139 NCIT:C128122 NCIT:C134526 canine neoplasm +MONDO:0700148 canine transitional cell carcinoma MONDO:0700139 NCIT:C128126 NCIT:C134526 canine neoplasm +MONDO:0700149 canine sarcoma MONDO:0700139 NCIT:C128195 NCIT:C134526 canine neoplasm +MONDO:0700150 canine mastocytoma MONDO:0700139 NCIT:C129077 NCIT:C134526 canine neoplasm +MONDO:0700152 canine hepatocellular carcinoma MONDO:0700139 NCIT:C129298 NCIT:C134526 canine neoplasm +MONDO:0700153 canine lung adenocarcinoma MONDO:0700139 NCIT:C129299 NCIT:C134526 canine neoplasm +MONDO:0700154 canine rhabdomyosarcoma MONDO:0700139 NCIT:C129300 NCIT:C134526 canine neoplasm +MONDO:0700155 canine thyroid adenocarcinoma MONDO:0700139 NCIT:C132275 NCIT:C134526 canine neoplasm +MONDO:0700156 canine soft tissue sarcoma MONDO:0700139 NCIT:C132276 NCIT:C134526 canine neoplasm +MONDO:0700157 canine oral squamous cell carcinoma MONDO:0700139 NCIT:C132823 NCIT:C134526 canine neoplasm +MONDO:0700158 canine pancreatic carcinoma MONDO:0700139 NCIT:C134944 NCIT:C134526 canine neoplasm +MONDO:0700162 canine granular cell tumor MONDO:0700139 NCIT:C158784 NCIT:C134526 canine neoplasm +MONDO:0700165 canine thyroid gland medullary carcinoma MONDO:0700139 NCIT:C161006 NCIT:C134526 canine neoplasm +MONDO:0700190 chicken bursal lymphoma MONDO:0700189 NCIT:C134556 NCIT:C135005 chicken neoplasm +MONDO:0700195 rous sarcoma MONDO:0700189 NCIT:C17466 NCIT:C135005 chicken neoplasm diff --git a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv index b7231811..b5b4638d 100644 --- a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv @@ -1705,7 +1705,6 @@ MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 NCIT:C5336 NCIT:C5335 MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 NCIT:C4830 NCIT:C8993 ureter carcinoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0020654 NCIT:C4830 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0004032 ovarian seromucinous carcinoma MONDO:0003811 NCIT:C40090 NCIT:C4508 ovarian seromucinous tumor -MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C4908 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 NCIT:C35690 NCIT:C4767 ocular cancer MONDO:0004040 urinary bladder inverted papilloma MONDO:0021109 NCIT:C39859 NCIT:C6192 inverted urothelial papilloma MONDO:0004040 urinary bladder inverted papilloma MONDO:0044906 NCIT:C39859 NCIT:C39858 bladder urothelial papilloma @@ -3437,6 +3436,7 @@ MONDO:0021310 malignant tumor of neck MONDO:0021351 NCIT:C4940 NCIT:C3260 neopla MONDO:0021311 malignant tumor of parathyroid gland MONDO:0021360 NCIT:C9322 NCIT:C3313 tumor of parathyroid gland MONDO:0021312 malignant tumor of adrenal cortex MONDO:0002817 NCIT:C9327 NCIT:C9338 adrenal gland cancer MONDO:0021312 malignant tumor of adrenal cortex MONDO:0036591 NCIT:C9327 NCIT:C2858 adrenal cortex neoplasm +MONDO:0021313 eyelid cancer MONDO:0002235 NCIT:C6786 NCIT:C3031 eyelid neoplasm MONDO:0021313 eyelid cancer MONDO:0002236 NCIT:C6786 NCIT:C4767 ocular cancer MONDO:0021315 malignant tumor of nasopharynx MONDO:0005375 NCIT:C9321 NCIT:C3257 nasopharyngeal neoplasm MONDO:0021315 malignant tumor of nasopharynx MONDO:0005517 NCIT:C9321 NCIT:C7545 pharynx cancer diff --git a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv index 4f552caa..b681653a 100644 --- a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv @@ -1,6 +1,5 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0017951 OMIM:190351 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive MONDO:0016471 OMIM:260130 OMIMPS:167200 pachyonychia congenita MONDO:0014709 obsolete Heimler syndrome 2 MONDO:0019234 OMIM:616617 OMIMPS:214100 peroxisome biogenesis disorder MONDO:0014755 skin creases, congenital symmetric circumferential, 2 MONDO:0000204 OMIM:616734 OMIMPS:156610 obsolete skin creases, congenital symmetric circumferential diff --git a/src/ontology/reports/omim.subclass.added.robot.tsv b/src/ontology/reports/omim.subclass.added.robot.tsv index f0a61365..74a724ed 100644 --- a/src/ontology/reports/omim.subclass.added.robot.tsv +++ b/src/ontology/reports/omim.subclass.added.robot.tsv @@ -236,6 +236,7 @@ MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MON MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:0017161 OMIM:619141 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0030928 microcephaly 26, primary, autosomal dominant MONDO:0016660 OMIM:619179 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0030929 microcephaly 27, primary, autosomal dominant MONDO:0016660 OMIM:619180 OMIMPS:251200 autosomal recessive primary microcephaly +MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome MONDO:0032659 mucocutaneous ulceration, chronic MONDO:0031384 OMIM:618287 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 OMIM:618357 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0032702 Coffin-Siris syndrome 8 MONDO:0100172 OMIM:618362 OMIMPS:156200 intellectual disability, autosomal dominant diff --git a/src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv new file mode 100644 index 00000000..457e4fe6 --- /dev/null +++ b/src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -0,0 +1,831 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source +MONDO:0000909 Bartter disease type 4B MONDO:0015231 OMIM:613090 OMIMPS:601678 Bartter syndrome +MONDO:0007092 amelogenesis imperfecta type 1B MONDO:0019507 OMIM:104500 OMIMPS:104500 amelogenesis imperfecta +MONDO:0007094 amelogenesis imperfecta type 1A MONDO:0019507 OMIM:104530 OMIMPS:104500 amelogenesis imperfecta +MONDO:0007135 nonsyndromic congenital nail disorder 6 MONDO:0019284 OMIM:107000 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0007157 arthrogryposis, distal, type 1A MONDO:0019942 OMIM:108120 OMIMPS:108120 distal arthrogryposis +MONDO:0007164 spastic ataxia 1 MONDO:0017845 OMIM:108600 OMIMPS:108600 spastic ataxia +MONDO:0007165 spastic ataxia 7 MONDO:0017845 OMIM:108650 OMIMPS:108600 spastic ataxia +MONDO:0007182 Machado-Joseph disease MONDO:0020380 OMIM:109150 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007278 cataract 32 multiple types MONDO:0005129 OMIM:115650 OMIMPS:116200 cataract +MONDO:0007279 cataract 7 MONDO:0005129 OMIM:115660 OMIMPS:116200 cataract +MONDO:0007280 cataract 8 multiple types MONDO:0005129 OMIM:115665 OMIMPS:116200 cataract +MONDO:0007283 cataract 42 MONDO:0005129 OMIM:115900 OMIMPS:116200 cataract +MONDO:0007284 cataract 20 multiple types MONDO:0005129 OMIM:116100 OMIMPS:116200 cataract +MONDO:0007286 cataract 30 MONDO:0005129 OMIM:116300 OMIMPS:116200 cataract +MONDO:0007287 cataract 41 MONDO:0005129 OMIM:116400 OMIMPS:116200 cataract +MONDO:0007288 cataract 6 multiple types MONDO:0005129 OMIM:116600 OMIMPS:116200 cataract +MONDO:0007289 cataract 13 with adult I phenotype MONDO:0005129 OMIM:116700 OMIMPS:116200 cataract +MONDO:0007290 cataract 5 multiple types MONDO:0005129 OMIM:116800 OMIMPS:116200 cataract +MONDO:0007294 central core myopathy MONDO:0019952 OMIM:117000 OMIMPS:117000 congenital myopathy +MONDO:0007296 spinocerebellar ataxia type 31 MONDO:0020380 OMIM:117210 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007298 spinocerebellar ataxia type 29 MONDO:0020380 OMIM:117360 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0015626 OMIM:118200 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 MONDO:0015626 OMIM:118210 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007309 Charcot-Marie-Tooth disease type 1A MONDO:0015626 OMIM:118220 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0015626 OMIM:118300 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007399 TWIST1-related craniosynostosis MONDO:0015469 OMIM:123100 OMIMPS:123100 craniosynostosis +MONDO:0007411 cutis laxa, autosomal dominant 1 MONDO:0100237 OMIM:123700 OMIMPS:123700 inherited cutis laxa +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0044807 OMIM:128100 OMIMPS:128100 inherited dystonia +MONDO:0007493 torsion dystonia 4 MONDO:0044807 OMIM:128101 OMIMPS:128100 inherited dystonia +MONDO:0007495 dystonia 5 MONDO:0044807 OMIM:128230 OMIMPS:128100 inherited dystonia +MONDO:0007496 dystonia 12 MONDO:0044807 OMIM:128235 OMIMPS:128100 inherited dystonia +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:0019287 OMIM:129490 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0020066 OMIM:130050 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0007538 amelogenesis imperfecta, type 3A MONDO:0019507 OMIM:130900 OMIMPS:104500 amelogenesis imperfecta +MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0020380 OMIM:133190 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 OMIM:133780 OMIMPS:133780 exudative vitreoretinopathy +MONDO:0007662 anterior segment dysgenesis 4 MONDO:0019503 OMIM:137600 OMIMPS:107250 anterior segment dysgenesis +MONDO:0007767 hyperparathyroidism 1 MONDO:0016166 OMIM:145000 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0016166 OMIM:145001 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia MONDO:0018555 OMIM:146110 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia MONDO:0018555 OMIM:147950 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0007933 vitelliform macular dystrophy 1 MONDO:0000390 OMIM:153840 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0007937 renal hypomagnesemia 2 MONDO:0018100 OMIM:154020 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0008002 mirror movements 1 MONDO:0016558 OMIM:157600 OMIMPS:157600 familial congenital mirror movements +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A MONDO:0015362 OMIM:158580 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A MONDO:0015362 OMIM:158590 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0008044 myoclonic dystonia 11 MONDO:0044807 OMIM:159900 OMIMPS:128100 inherited dystonia +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0018958 OMIM:161800 OMIMPS:161800 nemaline myopathy +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0019952 OMIM:161800 OMIMPS:117000 congenital myopathy +MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0017169 OMIM:162300 OMIMPS:131100 multiple endocrine neoplasia +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0016295 OMIM:162350 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A MONDO:0015364 OMIM:162400 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0020380 OMIM:164400 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0008133 optic atrophy 3 MONDO:0043878 OMIM:165300 OMIMPS:165500 hereditary optic atrophy +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0043878 OMIM:165500 OMIMPS:165500 hereditary optic atrophy +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 OMIM:166200 OMIMPS:166200 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 OMIM:166210 OMIMPS:166200 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 OMIM:166220 OMIMPS:166200 osteogenesis imperfecta +MONDO:0008200 autosomal dominant Parkinson disease 1 MONDO:0005180 OMIM:168601 OMIMPS:168600 Parkinson disease +MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0017169 OMIM:171400 OMIMPS:131100 multiple endocrine neoplasia +MONDO:0008263 polycystic kidney disease 1 MONDO:0020642 OMIM:173900 OMIMPS:173900 polycystic kidney disease +MONDO:0008266 polydactyly, postaxial, type A1 MONDO:0020927 OMIM:174200 OMIMPS:174200 postaxial polydactyly +MONDO:0008290 porokeratosis 1, Mibelli type MONDO:0006602 OMIM:175800 OMIMPS:175800 porokeratosis +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type MONDO:0006602 OMIM:175900 OMIMPS:175800 porokeratosis +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant MONDO:0100240 OMIM:176860 OMIMPS:188050 inherited thrombophilia +MONDO:0008319 protoporphyria, erythropoietic, 1 MONDO:0001676 OMIM:177000 OMIMPS:177000 erythropoietic protoporphyria +MONDO:0008457 spinocerebellar ataxia type 6 MONDO:0020380 OMIM:183086 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0020380 OMIM:183090 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0008566 thyroid cancer, nonmedullary, 2 MONDO:0017896 OMIM:188470 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0008671 Waardenburg syndrome type 2A MONDO:0018094 OMIM:193510 OMIMPS:193500 Waardenburg syndrome +MONDO:0008736 peroxisome biogenesis disorder 2B MONDO:0019234 OMIM:202370 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0018910 OMIM:203100 OMIMPS:203100 oculocutaneous albinism +MONDO:0008748 Hermansky-Pudlak syndrome 1 MONDO:0019312 OMIM:203300 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0018158 OMIM:203700 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0016295 OMIM:204200 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:0016295 OMIM:204300 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0016295 OMIM:204500 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008770 amelogenesis imperfecta type 1C MONDO:0019507 OMIM:204650 OMIMPS:104500 amelogenesis imperfecta +MONDO:0008772 amelogenesis imperfecta type 2A1 MONDO:0019507 OMIM:204700 OMIMPS:104500 amelogenesis imperfecta +MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile MONDO:0005144 OMIM:205100 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia MONDO:0005144 OMIM:205200 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0008785 sideroblastic anemia 2 MONDO:0020099 OMIM:205950 OMIMPS:300751 inherited sideroblastic anemia +MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO:0019284 OMIM:206800 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 MONDO:0004822 OMIM:211400 OMIMPS:211400 bronchiectasis +MONDO:0008925 cataract 46 juvenile-onset MONDO:0005129 OMIM:212500 OMIMPS:116200 cataract +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0015244 OMIM:213200 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) MONDO:0019234 OMIM:214100 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) MONDO:0019234 OMIM:214110 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0015626 OMIM:214400 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0000824 OMIM:214700 OMIMPS:214700 congenital diarrhea +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:0019234 OMIM:215100 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0009052 cutis laxa, autosomal recessive, type 1A MONDO:0100237 OMIM:219100 OMIMPS:123700 inherited cutis laxa +MONDO:0009135 anemia, congenital dyserythropoietic, type 1a MONDO:0019403 OMIM:224120 OMIMPS:224120 congenital dyserythropoietic anemia +MONDO:0009141 torsion dystonia 2 MONDO:0044807 OMIM:224500 OMIMPS:128100 inherited dystonia +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0019287 OMIM:224900 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0009273 hydatidiform mole, recurrent, 1 MONDO:0006248 OMIM:231090 OMIMPS:231090 hydatidiform mole +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:0002412 OMIM:232200 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009288 glycogen storage disease Ib MONDO:0002412 OMIM:232220 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009288 glycogen storage disease Ib MONDO:0002412 OMIM:232240 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0016166 OMIM:239200 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 MONDO:0000044 OMIM:241520 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0009439 autosomal recessive congenital ichthyosis 2 MONDO:0017265 OMIM:242100 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0017265 OMIM:242500 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia MONDO:0018555 OMIM:244200 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0018158 OMIM:245400 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0018838 OMIM:247200 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:0018100 OMIM:248190 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0009550 renal hypomagnesemia 3 MONDO:0018100 OMIM:248250 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0009635 microvillus inclusion disease MONDO:0000824 OMIM:251850 OMIMPS:214700 congenital diarrhea +MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0018158 OMIM:251880 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0019249 OMIM:252900 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0019249 OMIM:252920 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009657 mucopolysaccharidosis type 3C MONDO:0019249 OMIM:252930 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009659 mucopolysaccharidosis type 4A MONDO:0019249 OMIM:253000 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009660 mucopolysaccharidosis type 4B MONDO:0019249 OMIM:253010 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009690 congenital myasthenic syndrome 10 MONDO:0018940 OMIM:254300 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0009709 myopathy, centronuclear, 2 MONDO:0018947 OMIM:255200 OMIMPS:160150 centronuclear myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:0019952 OMIM:255320 OMIMPS:117000 congenital myopathy +MONDO:0009725 nemaline myopathy 2 MONDO:0018958 OMIM:256030 OMIMPS:161800 nemaline myopathy +MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0018158 OMIM:256810 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0009760 Norman-Roberts syndrome MONDO:0018838 OMIM:257320 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0019287 OMIM:257980 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0009775 Oguchi disease-1 MONDO:0016293 OMIM:258100 OMIMPS:310500 congenital stationary night blindness +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 OMIM:259420 OMIMPS:166200 osteogenesis imperfecta +MONDO:0009805 osteogenesis imperfecta type 9 MONDO:0019019 OMIM:259440 OMIMPS:166200 osteogenesis imperfecta +MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO:0019046 OMIM:260600 OMIMPS:312080 leukodystrophy +MONDO:0009878 pituitary hormone deficiency, combined, 2 MONDO:0013099 OMIM:262600 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form +MONDO:0009893 polydactyly, postaxial, type A5 MONDO:0020927 OMIM:263450 OMIMPS:174200 postaxial polydactyly +MONDO:0009959 peroxisome biogenesis disorder type 3B MONDO:0019234 OMIM:266510 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0015827 OMIM:267300 OMIMPS:179800 distal renal tubular acidosis +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0021094 OMIM:269840 OMIMPS:300755 immunodeficiency disease +MONDO:0010036 congenital secretory sodium diarrhea 3 MONDO:0000824 OMIM:270420 OMIMPS:214700 congenital diarrhea +MONDO:0010041 Charlevoix-Saguenay spastic ataxia MONDO:0017845 OMIM:270550 OMIMPS:108600 spastic ataxia +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0019064 OMIM:270685 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0019064 OMIM:270700 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0019064 OMIM:270750 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0018158 OMIM:271245 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0015244 OMIM:271250 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0010156 Troyer syndrome MONDO:0019064 OMIM:275900 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010169 Usher syndrome type 2A MONDO:0019501 OMIM:276901 OMIMPS:276900 Usher syndrome +MONDO:0010170 Usher syndrome type 3A MONDO:0019501 OMIM:276902 OMIMPS:276900 Usher syndrome +MONDO:0010171 Usher syndrome type 1C MONDO:0019501 OMIM:276904 OMIMPS:276900 Usher syndrome +MONDO:0010190 pontocerebellar hypoplasia type 2A MONDO:0020135 OMIM:277470 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0010192 Waardenburg syndrome type 4A MONDO:0018094 OMIM:277580 OMIMPS:193500 Waardenburg syndrome +MONDO:0010228 hearing loss, X-linked 3 MONDO:0020768 OMIM:300030 OMIMPS:304500 X-linked deafness +MONDO:0010238 hearing loss, X-linked 4 MONDO:0020768 OMIM:300066 OMIMPS:304500 X-linked deafness +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0018838 OMIM:300067 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0010241 congenital stationary night blindness 2A MONDO:0016293 OMIM:300071 OMIMPS:310500 congenital stationary night blindness +MONDO:0010245 X-linked cone-rod dystrophy 2 MONDO:0015993 OMIM:300085 OMIMPS:120970 cone-rod dystrophy +MONDO:0010296 immunodeficiency 61 MONDO:0021094 OMIM:300310 OMIMPS:300755 immunodeficiency disease +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0021094 OMIM:300400 OMIMPS:300755 immunodeficiency disease +MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO:0020119 OMIM:300423 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0010335 X-linked cone-rod dystrophy 3 MONDO:0015993 OMIM:300476 OMIMPS:120970 cone-rod dystrophy +MONDO:0010349 ovarian dysgenesis 2 MONDO:0019852 OMIM:300510 OMIMPS:311360 inherited primary ovarian failure +MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO:0000044 OMIM:300554 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0010360 parkinson disease 12 MONDO:0005180 OMIM:300557 OMIMPS:168600 Parkinson disease +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0020768 OMIM:300614 OMIMPS:304500 X-linked deafness +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0016537 OMIM:300635 OMIMPS:308240 lymphoproliferative syndrome +MONDO:0010386 immunodeficiency 33 MONDO:0021094 OMIM:300636 OMIMPS:300755 immunodeficiency disease +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0016830 OMIM:300696 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0019064 OMIM:300750 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0015977 OMIM:300755 OMIMPS:601495 agammaglobulinemia +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0021094 OMIM:300755 OMIMPS:300755 immunodeficiency disease +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:0015626 OMIM:300905 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010484 hearing loss, X-linked 6 MONDO:0020768 OMIM:300914 OMIMPS:304500 X-linked deafness +MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0021094 OMIM:300988 OMIMPS:300755 immunodeficiency disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0021094 OMIM:301000 OMIMPS:300755 immunodeficiency disease +MONDO:0010521 amelogenesis imperfecta type 1E MONDO:0019507 OMIM:301200 OMIMPS:104500 amelogenesis imperfecta +MONDO:0010544 cataract 40 MONDO:0005129 OMIM:302200 OMIMPS:116200 cataract +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0015626 OMIM:302800 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0015626 OMIM:302801 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0015626 OMIM:302802 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010559 MASA syndrome MONDO:0019064 OMIM:303350 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010563 blue cone monochromacy MONDO:0015993 OMIM:303700 OMIMPS:120970 cone-rod dystrophy +MONDO:0010566 X-linked cone-rod dystrophy 1 MONDO:0015993 OMIM:304020 OMIMPS:120970 cone-rod dystrophy +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher MONDO:0020768 OMIM:304400 OMIMPS:304500 X-linked deafness +MONDO:0010577 hearing loss, X-linked 1 MONDO:0020768 OMIM:304500 OMIMPS:304500 X-linked deafness +MONDO:0010584 dyskeratosis congenita, X-linked MONDO:0015780 OMIM:305000 OMIMPS:127550 dyskeratosis congenita +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO:0019287 OMIM:305100 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0010598 glycogen storage disease IXa1 MONDO:0002412 OMIM:306000 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0000044 OMIM:307800 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0010626 hyper-IgM syndrome type 1 MONDO:0021094 OMIM:308230 OMIMPS:300755 immunodeficiency disease +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO:0018555 OMIM:308700 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:0020119 OMIM:309520 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0015626 OMIM:310490 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010690 congenital stationary night blindness 1A MONDO:0016293 OMIM:310500 OMIMPS:310500 congenital stationary night blindness +MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0015626 OMIM:311070 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010730 combined immunodeficiency, X-linked MONDO:0021094 OMIM:312863 OMIMPS:300755 immunodeficiency disease +MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0044807 OMIM:314250 OMIMPS:128100 inherited dystonia +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 MONDO:0005180 OMIM:600116 OMIMPS:168600 Parkinson disease +MONDO:0010829 CARASIL syndrome MONDO:0007432 OMIM:600142 OMIMPS:125310 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0016295 OMIM:600143 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0010841 Waardenburg syndrome type 2B MONDO:0018094 OMIM:600193 OMIMPS:193500 Waardenburg syndrome +MONDO:0010844 epiphyseal dysplasia, multiple, 2 MONDO:0016648 OMIM:600204 OMIMPS:132400 multiple epiphyseal dysplasia +MONDO:0010847 spinocerebellar ataxia type 4 MONDO:0020380 OMIM:600223 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0010848 spinocerebellar ataxia type 5 MONDO:0020380 OMIM:600224 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0010906 orofacial cleft 11 MONDO:0000358 OMIM:600625 OMIMPS:119530 orofacial cleft +MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease MONDO:0020642 OMIM:600666 OMIMPS:173900 polycystic kidney disease +MONDO:0010927 orofacial cleft 3 MONDO:0000358 OMIM:600757 OMIMPS:119530 orofacial cleft +MONDO:0010929 craniosynostosis 4 MONDO:0015469 OMIM:600775 OMIMPS:123100 craniosynostosis +MONDO:0010948 cataract 10 multiple types MONDO:0005129 OMIM:600881 OMIMPS:116200 cataract +MONDO:0010949 Charcot-Marie-Tooth disease type 2B MONDO:0015626 OMIM:600882 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010964 epiphyseal dysplasia, multiple, 3 MONDO:0016648 OMIM:600969 OMIMPS:132400 multiple epiphyseal dysplasia +MONDO:0010974 nephrotic syndrome, type 2 MONDO:0002350 OMIM:600995 OMIMPS:256300 familial nephrotic syndrome +MONDO:0010983 dystonia 9 MONDO:0044807 OMIM:601042 OMIMPS:128100 inherited dystonia +MONDO:0010984 Usher syndrome type 1D MONDO:0019501 OMIM:601067 OMIMPS:276900 Usher syndrome +MONDO:0010995 Charcot-Marie-Tooth disease type 1C MONDO:0015626 OMIM:601098 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0019064 OMIM:601162 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011015 cataract 24 MONDO:0005129 OMIM:601202 OMIMPS:116200 cataract +MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 MONDO:0015626 OMIM:601382 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011085 Charcot-Marie-Tooth disease type 4D MONDO:0015626 OMIM:601455 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011088 congenital myasthenic syndrome 1A MONDO:0018940 OMIM:601462 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0011091 Charcot-Marie-Tooth disease type 2D MONDO:0015626 OMIM:601472 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011101 peroxisome biogenesis disorder 1B MONDO:0019234 OMIM:601539 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0011113 Charcot-Marie-Tooth disease type 4C MONDO:0015626 OMIM:601596 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011125 trichothiodystrophy 1, photosensitive MONDO:0018053 OMIM:601675 OMIMPS:601675 trichothiodystrophy +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0016295 OMIM:601780 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0011151 exudative vitreoretinopathy 4 MONDO:0019516 OMIM:601813 OMIMPS:133780 exudative vitreoretinopathy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 MONDO:0005803 OMIM:601820 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0011162 cataract 14 multiple types MONDO:0005129 OMIM:601885 OMIMPS:116200 cataract +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0018100 OMIM:602014 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0011177 ectodermal dysplasia 4, hair/nail type MONDO:0019287 OMIM:602032 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0011186 Usher syndrome type 1F MONDO:0019501 OMIM:602083 OMIMPS:276900 Usher syndrome +MONDO:0011187 polydactyly, postaxial, type A2 MONDO:0020927 OMIM:602085 OMIMPS:174200 postaxial polydactyly +MONDO:0011195 Usher syndrome type 1E MONDO:0019501 OMIM:602097 OMIMPS:276900 Usher syndrome +MONDO:0011196 amyotrophic lateral sclerosis type 5 MONDO:0005144 OMIM:602099 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0011216 hemochromatosis type 2A MONDO:0006507 OMIM:602390 OMIMPS:235200 hereditary hemochromatosis +MONDO:0011220 parkinson disease 3, autosomal dominant MONDO:0005180 OMIM:602404 OMIMPS:168600 Parkinson disease +MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0005803 OMIM:602485 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0011242 Bartter disease type 4A MONDO:0015231 OMIM:602522 OMIMPS:601678 Bartter syndrome +MONDO:0011264 torsion dystonia 6 MONDO:0044807 OMIM:602629 OMIMPS:128100 inherited dystonia +MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0015827 OMIM:602722 OMIMPS:179800 distal renal tubular acidosis +MONDO:0011271 rigid spine muscular dystrophy 1 MONDO:0019952 OMIM:602771 OMIMPS:117000 congenital myopathy +MONDO:0011326 citrullinemia, type II, adult-onset MONDO:0015991 OMIM:603471 OMIMPS:215700 citrullinemia +MONDO:0011330 spinocerebellar ataxia type 10 MONDO:0020380 OMIM:603516 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0019064 OMIM:603563 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011439 spinocerebellar ataxia type 12 MONDO:0020380 OMIM:604326 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0019064 OMIM:604360 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011464 spinocerebellar ataxia type 11 MONDO:0020380 OMIM:604432 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011466 distal myopathy, Welander type MONDO:0018949 OMIM:604454 OMIMPS:160500 distal myopathy +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 MONDO:0015626 OMIM:604563 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011481 craniosynostosis 2 MONDO:0015469 OMIM:604757 OMIMPS:123100 craniosynostosis +MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0019064 OMIM:604805 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0015626 OMIM:605253 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0020380 OMIM:605259 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0015626 OMIM:605285 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0020380 OMIM:605361 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011547 cataract 31 multiple types MONDO:0005129 OMIM:605387 OMIMPS:116200 cataract +MONDO:0011558 Usher syndrome type 2C MONDO:0019501 OMIM:605472 OMIMPS:276900 Usher syndrome +MONDO:0011562 autosomal dominant Parkinson disease 4 MONDO:0005180 OMIM:605543 OMIMPS:168600 Parkinson disease +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0015626 OMIM:605588 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 MONDO:0015626 OMIM:605589 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011587 cataract 25 MONDO:0005129 OMIM:605728 OMIMPS:116200 cataract +MONDO:0011591 cataract 26 multiple types MONDO:0005129 OMIM:605749 OMIMPS:116200 cataract +MONDO:0011600 congenital myasthenic syndrome 4A MONDO:0018940 OMIM:605809 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0015991 OMIM:605814 OMIMPS:215700 citrullinemia +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 MONDO:0005180 OMIM:605909 OMIMPS:168600 Parkinson disease +MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0015626 OMIM:606071 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011653 thyroid cancer, nonmedullary, 3 MONDO:0017896 OMIM:606240 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 MONDO:0005180 OMIM:606324 OMIMPS:168600 Parkinson disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0015626 OMIM:606482 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0015626 OMIM:606483 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011680 autosomal recessive congenital ichthyosis 3 MONDO:0017265 OMIM:606545 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F MONDO:0015626 OMIM:606595 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011694 spinocerebellar ataxia type 15/16 MONDO:0020380 OMIM:606658 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011697 Waardenburg syndrome type 2C MONDO:0018094 OMIM:606662 OMIMPS:193500 Waardenburg syndrome +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0005180 OMIM:606693 OMIMPS:168600 Parkinson disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0005803 OMIM:606762 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:0002408 OMIM:606785 OMIMPS:237450 hereditary hyperbilirubinemia +MONDO:0011737 parkinson disease 10 MONDO:0005180 OMIM:606852 OMIMPS:168600 Parkinson disease +MONDO:0011748 Usher syndrome type 1G MONDO:0019501 OMIM:606943 OMIMPS:276900 Usher syndrome +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018910 OMIM:606952 OMIMPS:203100 oculocutaneous albinism +MONDO:0011758 Hurler syndrome MONDO:0019249 OMIM:607014 OMIMPS:607014 mucopolysaccharidosis +MONDO:0011759 Hurler-Scheie syndrome MONDO:0019249 OMIM:607015 OMIMPS:607014 mucopolysaccharidosis +MONDO:0011760 Scheie syndrome MONDO:0019249 OMIM:607016 OMIMPS:607014 mucopolysaccharidosis +MONDO:0011764 autosomal dominant Parkinson disease 8 MONDO:0005180 OMIM:607060 OMIMPS:168600 Parkinson disease +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0020380 OMIM:607136 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0019064 OMIM:607152 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011808 cataract 27 MONDO:0005129 OMIM:607304 OMIMPS:116200 cataract +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0015244 OMIM:607317 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0011813 polydactyly, postaxial, type A3 MONDO:0020927 OMIM:607324 OMIMPS:174200 postaxial polydactyly +MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0020380 OMIM:607346 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011830 lissencephaly due to LIS1 mutation MONDO:0018838 OMIM:607432 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0020380 OMIM:607454 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011834 spinocerebellar ataxia type 18 MONDO:0020380 OMIM:607458 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011844 myoclonic dystonia 15 MONDO:0044807 OMIM:607488 OMIMPS:128100 inherited dystonia +MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0019064 OMIM:607584 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011866 pontocerebellar hypoplasia type 1A MONDO:0020135 OMIM:607596 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B MONDO:0015362 OMIM:607641 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0011886 torsion dystonia 13 MONDO:0044807 OMIM:607671 OMIMPS:128100 inherited dystonia +MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0015626 OMIM:607677 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0015626 OMIM:607678 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0015626 OMIM:607684 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 OMIM:607694 OMIMPS:312080 leukodystrophy +MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive MONDO:0015626 OMIM:607706 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011900 porokeratosis 4, disseminated superficial actinic type MONDO:0006602 OMIM:607728 OMIMPS:175800 porokeratosis +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0015626 OMIM:607731 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0015626 OMIM:607734 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0015626 OMIM:607736 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0015626 OMIM:607791 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K MONDO:0015626 OMIM:607831 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015364 OMIM:608088 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0021094 OMIM:608203 OMIMPS:300755 immunodeficiency disease +MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0019064 OMIM:608220 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0015626 OMIM:608323 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0015626 OMIM:608340 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012029 microcephaly 6, primary, autosomal recessive MONDO:0016660 OMIM:608393 OMIMPS:251200 autosomal recessive primary microcephaly +MONDO:0012059 polydactyly, postaxial, type A4 MONDO:0020927 OMIM:608562 OMIMPS:174200 postaxial polydactyly +MONDO:0012080 neuronopathy, distal hereditary motor, type 2B MONDO:0015362 OMIM:608634 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L MONDO:0015626 OMIM:608673 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive MONDO:0000359 OMIM:608681 OMIMPS:277300 spondylocostal dysostosis +MONDO:0012098 spinocerebellar ataxia type 20 MONDO:0020380 OMIM:608687 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012103 spinocerebellar ataxia type 25 MONDO:0020380 OMIM:608703 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012116 spinocerebellar ataxia type 8 MONDO:0020380 OMIM:608768 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:0019046 OMIM:608804 OMIMPS:312080 leukodystrophy +MONDO:0012142 orofacial cleft 5 MONDO:0000358 OMIM:608874 OMIMPS:119530 orofacial cleft +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel MONDO:0018940 OMIM:608930 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0012157 congenital myasthenic syndrome 4C MONDO:0018940 OMIM:608931 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0012163 immunodeficiency 104 MONDO:0021094 OMIM:608971 OMIMPS:300755 immunodeficiency disease +MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0019064 OMIM:609041 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012188 neuronal ceroid lipofuscinosis 9 MONDO:0016295 OMIM:609055 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0019064 OMIM:609195 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0015626 OMIM:609260 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012237 nemaline myopathy 6 MONDO:0018958 OMIM:609273 OMIMPS:161800 nemaline myopathy +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0000090 OMIM:609283 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0012239 congenital myopathy 4B, autosomal recessive MONDO:0018958 OMIM:609284 OMIMPS:161800 nemaline myopathy +MONDO:0012239 congenital myopathy 4B, autosomal recessive MONDO:0019952 OMIM:609284 OMIMPS:117000 congenital myopathy +MONDO:0012240 congenital myopathy 23 MONDO:0018958 OMIM:609285 OMIMPS:161800 nemaline myopathy +MONDO:0012240 congenital myopathy 23 MONDO:0019952 OMIM:609285 OMIMPS:117000 congenital myopathy +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0000090 OMIM:609286 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0012246 spinocerebellar ataxia type 26 MONDO:0020380 OMIM:609306 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012250 Charcot-Marie-Tooth disease type 4H MONDO:0015626 OMIM:609311 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0019064 OMIM:609340 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012260 cataract 35 MONDO:0005129 OMIM:609376 OMIMPS:116200 cataract +MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular MONDO:0019354 OMIM:609508 OMIMPS:108300 Stickler syndrome +MONDO:0012322 holoprosencephaly 5 MONDO:0016296 OMIM:609637 OMIMPS:236100 holoprosencephaly +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0019064 OMIM:609727 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012336 cataract 22 multiple types MONDO:0005129 OMIM:609741 OMIMPS:116200 cataract +MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive MONDO:0000359 OMIM:609813 OMIMPS:277300 spondylocostal dysostosis +MONDO:0012381 hyperinsulinism due to INSR deficiency MONDO:0005803 OMIM:609968 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0005803 OMIM:609975 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0016295 OMIM:610003 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0012396 exercise-induced hyperinsulinism MONDO:0005803 OMIM:610021 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0012406 hyperparathyroidism 3 MONDO:0016166 OMIM:610071 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0018949 OMIM:610099 OMIMPS:160500 distal myopathy +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0016295 OMIM:610127 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0000090 OMIM:610131 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0012426 immunodeficiency 25 MONDO:0021094 OMIM:610163 OMIMPS:300755 immunodeficiency disease +MONDO:0012437 cataract 21 multiple types MONDO:0005129 OMIM:610202 OMIMPS:116200 cataract +MONDO:0012444 neurodegeneration with brain iron accumulation 2B MONDO:0018307 OMIM:610217 OMIMPS:234200 neurodegeneration with brain iron accumulation +MONDO:0012449 spinocerebellar ataxia type 23 MONDO:0020380 OMIM:610245 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0020380 OMIM:610246 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012489 cataract 23 MONDO:0005129 OMIM:610425 OMIMPS:116200 cataract +MONDO:0012518 congenital myasthenic syndrome 12 MONDO:0018940 OMIM:610542 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:0019188 OMIM:610543 OMIMPS:180849 Rubinstein-Taybi syndrome +MONDO:0012527 cataract 11 multiple types MONDO:0005129 OMIM:610623 OMIMPS:116200 cataract +MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia MONDO:0018555 OMIM:610628 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0012536 osteogenesis imperfecta type 7 MONDO:0019019 OMIM:610682 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012538 nemaline myopathy 7 MONDO:0018958 OMIM:610687 OMIMPS:161800 nemaline myopathy +MONDO:0012543 optic atrophy 5 MONDO:0043878 OMIM:610708 OMIMPS:165500 hereditary optic atrophy +MONDO:0012546 nephrotic syndrome, type 3 MONDO:0002350 OMIM:610725 OMIMPS:256300 familial nephrotic syndrome +MONDO:0012548 Kostmann syndrome MONDO:0018542 OMIM:610738 OMIMPS:202700 severe congenital neutropenia +MONDO:0012563 holoprosencephaly 9 MONDO:0016296 OMIM:610829 OMIMPS:236100 holoprosencephaly +MONDO:0012581 osteogenesis imperfecta type 8 MONDO:0019019 OMIM:610915 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 OMIM:610967 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012592 osteogenesis imperfecta type 11 MONDO:0019019 OMIM:610968 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0044807 OMIM:611031 OMIMPS:128100 inherited dystonia +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 MONDO:0044807 OMIM:611147 OMIMPS:128100 inherited dystonia +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0019064 OMIM:611225 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012640 Charcot-Marie-Tooth disease type 4J MONDO:0015626 OMIM:611228 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0019064 OMIM:611252 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012650 Cernunnos-XLF deficiency MONDO:0021094 OMIM:611291 OMIMPS:300755 immunodeficiency disease +MONDO:0012662 Usher syndrome type 2D MONDO:0019501 OMIM:611383 OMIMPS:276900 Usher syndrome +MONDO:0012664 spastic ataxia 3 MONDO:0017845 OMIM:611390 OMIMPS:108600 spastic ataxia +MONDO:0012665 cataract 33 MONDO:0005129 OMIM:611391 OMIMPS:116200 cataract +MONDO:0012688 cataract 17 multiple types MONDO:0005129 OMIM:611544 OMIMPS:116200 cataract +MONDO:0012698 Waardenburg syndrome type 2E MONDO:0018094 OMIM:611584 OMIMPS:193500 Waardenburg syndrome +MONDO:0012703 lissencephaly due to TUBA1A mutation MONDO:0018838 OMIM:611603 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0019952 OMIM:611705 OMIMPS:117000 congenital myopathy +MONDO:0012717 renal hypomagnesemia 4 MONDO:0018100 OMIM:611718 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0019064 OMIM:611945 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0019064 OMIM:612020 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012789 dystonia 16 MONDO:0044807 OMIM:612067 OMIMPS:128100 inherited dystonia +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0018158 OMIM:612073 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0018158 OMIM:612075 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0044807 OMIM:612126 OMIMPS:128100 inherited dystonia +MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:0019046 OMIM:612233 OMIMPS:312080 leukodystrophy +MONDO:0012847 autosomal recessive congenital ichthyosis 6 MONDO:0017265 OMIM:612281 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0012857 porokeratosis 5, disseminated superficial actinic type MONDO:0006602 OMIM:612293 OMIMPS:175800 porokeratosis +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive MONDO:0100240 OMIM:612304 OMIMPS:188050 inherited thrombophilia +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0019064 OMIM:612335 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0100240 OMIM:612336 OMIMPS:188050 inherited thrombophilia +MONDO:0012869 intellectual disability, autosomal dominant 22 MONDO:0100172 OMIM:612337 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0020066 OMIM:612350 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type MONDO:0006602 OMIM:612353 OMIMPS:175800 porokeratosis +MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia MONDO:0018555 OMIM:612370 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0012890 pontocerebellar hypoplasia type 2B MONDO:0020135 OMIM:612389 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0012891 pontocerebellar hypoplasia type 2C MONDO:0020135 OMIM:612390 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0012895 torsion dystonia 17 MONDO:0044807 OMIM:612406 OMIMPS:128100 inherited dystonia +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 MONDO:0019507 OMIM:612529 OMIMPS:104500 amelogenesis imperfecta +MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0019064 OMIM:612539 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0018542 OMIM:612541 OMIMPS:202700 severe congenital neutropenia +MONDO:0012941 inflammatory bowel disease 25 MONDO:0005265 OMIM:612567 OMIMPS:266600 inflammatory bowel disease +MONDO:0012968 Usher syndrome type 1H MONDO:0019501 OMIM:612632 OMIMPS:276900 Usher syndrome +MONDO:0012987 agammaglobulinemia 6, autosomal recessive MONDO:0015977 OMIM:612692 OMIMPS:601495 agammaglobulinemia +MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia MONDO:0018555 OMIM:612702 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency MONDO:0021094 OMIM:612782 OMIMPS:300755 immunodeficiency disease +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency MONDO:0021094 OMIM:612783 OMIMPS:300755 immunodeficiency disease +MONDO:0013017 hypotrichosis 5 MONDO:0003037 OMIM:612841 OMIMPS:605389 hypotrichosis +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly MONDO:0957097 OMIM:612922 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly MONDO:0957097 OMIM:612923 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0957097 OMIM:612924 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly MONDO:0957097 OMIM:612925 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly MONDO:0957097 OMIM:612926 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0100237 OMIM:612940 OMIMPS:123700 inherited cutis laxa +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0100062 OMIM:612949 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0005180 OMIM:612953 OMIMPS:168600 Parkinson disease +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:0016830 OMIM:612998 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:0016830 OMIM:612999 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 MONDO:0004822 OMIM:613021 OMIMPS:211400 bronchiectasis +MONDO:0013091 glycogen storage disease IXc MONDO:0002412 OMIM:613027 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 MONDO:0004822 OMIM:613071 OMIMPS:211400 bronchiectasis +MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0000090 OMIM:613077 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0013131 polycystic kidney disease 2 MONDO:0020642 OMIM:613095 OMIMPS:173900 polycystic kidney disease +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0019064 OMIM:613096 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant MONDO:0018542 OMIM:613107 OMIMPS:202700 severe congenital neutropenia +MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B MONDO:0015364 OMIM:613115 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013153 inflammatory bowel disease 28 MONDO:0005265 OMIM:613148 OMIMPS:266600 inflammatory bowel disease +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0019064 OMIM:613162 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0019064 OMIM:613206 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 MONDO:0019507 OMIM:613211 OMIMPS:104500 amelogenesis imperfecta +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0000824 OMIM:613217 OMIMPS:214700 congenital diarrhea +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:0015244 OMIM:613227 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013201 Waardenburg syndrome type 4B MONDO:0018094 OMIM:613265 OMIMPS:193500 Waardenburg syndrome +MONDO:0013202 Waardenburg syndrome type 4C MONDO:0018094 OMIM:613266 OMIMPS:193500 Waardenburg syndrome +MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N MONDO:0015626 OMIM:613287 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013218 exudative vitreoretinopathy 5 MONDO:0019516 OMIM:613310 OMIMPS:133780 exudative vitreoretinopathy +MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 MONDO:0000044 OMIM:613312 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0013220 hemochromatosis type 2B MONDO:0006507 OMIM:613313 OMIMPS:235200 hereditary hemochromatosis +MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0019064 OMIM:613364 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013241 spinocerebellar ataxia type 30 MONDO:0020380 OMIM:613371 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013243 neuronopathy, distal hereditary motor, type 2C MONDO:0015362 OMIM:613376 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0013247 Fanconi renotubular syndrome 2 MONDO:0100238 OMIM:613388 OMIMPS:134600 inherited Fanconi renotubular syndrome +MONDO:0013259 Oguchi disease-2 MONDO:0016293 OMIM:613411 OMIMPS:310500 congenital stationary night blindness +MONDO:0013287 agammaglobulinemia 2, autosomal recessive MONDO:0015977 OMIM:613500 OMIMPS:601495 agammaglobulinemia +MONDO:0013288 agammaglobulinemia 3, autosomal recessive MONDO:0015977 OMIM:613501 OMIMPS:601495 agammaglobulinemia +MONDO:0013289 agammaglobulinemia 4, autosomal recessive MONDO:0015977 OMIM:613502 OMIMPS:601495 agammaglobulinemia +MONDO:0013290 agammaglobulinemia 5, autosomal dominant MONDO:0015977 OMIM:613506 OMIMPS:601495 agammaglobulinemia +MONDO:0013291 glycogen storage disease XV MONDO:0002412 OMIM:613507 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C MONDO:0015364 OMIM:613640 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0015626 OMIM:613641 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013354 spastic ataxia 4 MONDO:0017845 OMIM:613672 OMIMPS:108600 spastic ataxia +MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive MONDO:0000359 OMIM:613686 OMIMPS:277300 spondylocostal dysostosis +MONDO:0013378 orofacial cleft 10 MONDO:0000358 OMIM:613705 OMIMPS:119530 orofacial cleft +MONDO:0013381 neuropathy, hereditary sensory, type 1D MONDO:0015364 OMIM:613708 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013389 developmental and epileptic encephalopathy, 12 MONDO:0100062 OMIM:613722 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0013411 cataract 16 multiple types MONDO:0005129 OMIM:613763 OMIMPS:116200 cataract +MONDO:0013438 pontocerebellar hypoplasia type 2D MONDO:0020135 OMIM:613811 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0013459 osteogenesis imperfecta type 10 MONDO:0019019 OMIM:613848 OMIMPS:166200 osteogenesis imperfecta +MONDO:0013460 osteogenesis imperfecta type 12 MONDO:0019019 OMIM:613849 OMIMPS:166200 osteogenesis imperfecta +MONDO:0013480 renal hypomagnesemia 6 MONDO:0018100 OMIM:613882 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0013485 spinocerebellar ataxia type 35 MONDO:0020380 OMIM:613908 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013486 spinocerebellar ataxia type 32 MONDO:0020380 OMIM:613909 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0000137 OMIM:613925 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0000137 OMIM:613926 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0013515 osteogenesis imperfecta type 6 MONDO:0019019 OMIM:613982 OMIMPS:166200 osteogenesis imperfecta +MONDO:0013527 lissencephaly 4 MONDO:0018838 OMIM:614019 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement MONDO:0018949 OMIM:614065 OMIMPS:160500 distal myopathy +MONDO:0013555 Hermansky-Pudlak syndrome 3 MONDO:0019312 OMIM:614072 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013556 Hermansky-Pudlak syndrome 4 MONDO:0019312 OMIM:614073 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013557 Hermansky-Pudlak syndrome 5 MONDO:0019312 OMIM:614074 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013558 Hermansky-Pudlak syndrome 6 MONDO:0019312 OMIM:614075 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0015364 OMIM:614116 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013591 epiphyseal dysplasia, multiple, 6 MONDO:0016648 OMIM:614135 OMIMPS:132400 multiple epiphyseal dysplasia +MONDO:0013592 nonsyndromic congenital nail disorder 9 MONDO:0019284 OMIM:614149 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0013594 spinocerebellar ataxia type 36 MONDO:0020380 OMIM:614153 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013605 brittle cornea syndrome 2 MONDO:0020066 OMIM:614170 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0013607 monocytopenia with susceptibility to infections MONDO:0021094 OMIM:614172 OMIMPS:300755 immunodeficiency disease +MONDO:0013619 nephrotic syndrome, type 6 MONDO:0002350 OMIM:614196 OMIMPS:256300 familial nephrotic syndrome +MONDO:0013620 congenital myasthenic syndrome 16 MONDO:0018940 OMIM:614198 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0013625 Parkinson disease 17 MONDO:0005180 OMIM:614203 OMIMPS:168600 Parkinson disease +MONDO:0013634 neuropathy, hereditary sensory, type 2C MONDO:0015364 OMIM:614213 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O MONDO:0015626 OMIM:614228 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0015244 OMIM:614229 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013671 hydatidiform mole, recurrent, 2 MONDO:0006248 OMIM:614293 OMIMPS:231090 hydatidiform mole +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0016830 OMIM:614302 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0013686 distal myopathy, Tateyama type MONDO:0018949 OMIM:614321 OMIMPS:160500 distal myopathy +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0015244 OMIM:614322 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013698 arthrogryposis, distal, type 1B MONDO:0019942 OMIM:614335 OMIMPS:108120 distal arthrogryposis +MONDO:0013715 amyotrophic lateral sclerosis type 16 MONDO:0005144 OMIM:614373 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 OMIM:614381 OMIMPS:312080 leukodystrophy +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0019064 OMIM:614409 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013744 cataract 37 MONDO:0005129 OMIM:614422 OMIMPS:116200 cataract +MONDO:0013751 cutis laxa, autosomal dominant 2 MONDO:0100237 OMIM:614434 OMIMPS:123700 inherited cutis laxa +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0015626 OMIM:614436 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013754 cutis laxa, autosomal recessive, type 1B MONDO:0100237 OMIM:614437 OMIMPS:123700 inherited cutis laxa +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0015626 OMIM:614455 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013776 spastic ataxia 5 MONDO:0017845 OMIM:614487 OMIMPS:108600 spastic ataxia +MONDO:0013788 Usher syndrome type 3B MONDO:0019501 OMIM:614504 OMIMPS:276900 Usher syndrome +MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive MONDO:0100240 OMIM:614514 OMIMPS:188050 inherited thrombophilia +MONDO:0013801 developmental and epileptic encephalopathy, 13 MONDO:0100062 OMIM:614558 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0013813 dystonia 21 MONDO:0044807 OMIM:614588 OMIMPS:128100 inherited dystonia +MONDO:0013853 pontocerebellar hypoplasia type 1B MONDO:0020135 OMIM:614678 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0013859 cataract 38 MONDO:0005129 OMIM:614691 OMIMPS:116200 cataract +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0016295 OMIM:614706 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0013868 porokeratosis 7, multiple types MONDO:0006602 OMIM:614714 OMIMPS:175800 porokeratosis +MONDO:0013883 congenital myasthenic syndrome 13 MONDO:0018940 OMIM:614750 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:0015244 OMIM:614831 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 MONDO:0019507 OMIM:614832 OMIMPS:104500 amelogenesis imperfecta +MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia MONDO:0018555 OMIM:614837 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia MONDO:0018555 OMIM:614838 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia MONDO:0018555 OMIM:614840 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia MONDO:0018555 OMIM:614858 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) MONDO:0019234 OMIM:614859 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013928 dystonia 23 MONDO:0044807 OMIM:614860 OMIMPS:128100 inherited dystonia +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) MONDO:0019234 OMIM:614862 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013931 peroxisome biogenesis disorder 4B MONDO:0019234 OMIM:614863 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) MONDO:0019234 OMIM:614866 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013933 peroxisome biogenesis disorder 5B MONDO:0019234 OMIM:614867 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013934 combined immunodeficiency due to STK4 deficiency MONDO:0021094 OMIM:614868 OMIMPS:300755 immunodeficiency disease +MONDO:0013935 Usher syndrome type 1J MONDO:0019501 OMIM:614869 OMIMPS:276900 Usher syndrome +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) MONDO:0019234 OMIM:614870 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013937 peroxisome biogenesis disorder 6B MONDO:0019234 OMIM:614871 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) MONDO:0019234 OMIM:614872 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013939 peroxisome biogenesis disorder 7B MONDO:0019234 OMIM:614873 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) MONDO:0019234 OMIM:614876 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013943 peroxisome biogenesis disorder 8B MONDO:0019234 OMIM:614877 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013945 peroxisome biogenesis disorder 9B MONDO:0019234 OMIM:614879 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia MONDO:0018555 OMIM:614880 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) MONDO:0019234 OMIM:614882 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) MONDO:0019234 OMIM:614883 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013950 peroxisome biogenesis disorder 11B MONDO:0019234 OMIM:614885 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) MONDO:0019234 OMIM:614886 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) MONDO:0019234 OMIM:614887 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013959 Charcot-Marie-Tooth disease type 4F MONDO:0015626 OMIM:614895 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia MONDO:0018555 OMIM:614897 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0019064 OMIM:614898 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013967 peroxisome biogenesis disorder 14B MONDO:0019234 OMIM:614920 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013974 ectodermal dysplasia 6, hair/nail type MONDO:0019287 OMIM:614928 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013975 ectodermal dysplasia 7, hair/nail type MONDO:0019287 OMIM:614929 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013976 ectodermal dysplasia 9, hair/nail type MONDO:0019287 OMIM:614931 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:0019287 OMIM:614940 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0019287 OMIM:614941 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013996 focal facial dermal dysplasia type II MONDO:0018363 OMIM:614973 OMIMPS:136500 focal facial dermal dysplasia +MONDO:0014001 Usher syndrome type 1K MONDO:0019501 OMIM:614990 OMIMPS:276900 Usher syndrome +MONDO:0014009 autosomal recessive congenital ichthyosis 7 MONDO:0017265 OMIM:615022 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0014010 autosomal recessive congenital ichthyosis 9 MONDO:0017265 OMIM:615023 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0014011 autosomal recessive congenital ichthyosis 10 MONDO:0017265 OMIM:615024 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q MONDO:0015626 OMIM:615025 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0019064 OMIM:615033 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014019 dystonia 24 MONDO:0044807 OMIM:615034 OMIMPS:128100 inherited dystonia +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0019064 OMIM:615035 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0019064 OMIM:615043 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014029 osteogenesis imperfecta type 14 MONDO:0019019 OMIM:615066 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014033 dystonia 25 MONDO:0044807 OMIM:615073 OMIMPS:128100 inherited dystonia +MONDO:0014052 congenital myasthenic syndrome 8 MONDO:0018940 OMIM:615120 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0015626 OMIM:615185 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014075 cataract 39 multiple types MONDO:0005129 OMIM:615188 OMIMPS:116200 cataract +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0015780 OMIM:615190 OMIMPS:127550 dyskeratosis congenita +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0018838 OMIM:615191 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0021094 OMIM:615206 OMIMPS:300755 immunodeficiency disease +MONDO:0014083 agammaglobulinemia 7, autosomal recessive MONDO:0015977 OMIM:615214 OMIMPS:601495 agammaglobulinemia +MONDO:0014086 osteogenesis imperfecta type 15 MONDO:0019019 OMIM:615220 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014090 polydactyly, postaxial, type A6 MONDO:0020927 OMIM:615226 OMIMPS:174200 postaxial polydactyly +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency +MONDO:0014099 nephrotic syndrome, type 8 MONDO:0002350 OMIM:615244 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia MONDO:0018555 OMIM:615266 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia MONDO:0018555 OMIM:615267 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia MONDO:0018555 OMIM:615269 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia MONDO:0018555 OMIM:615270 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia MONDO:0018555 OMIM:615271 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014110 cataract 15 multiple types MONDO:0005129 OMIM:615274 OMIMPS:116200 cataract +MONDO:0014111 cataract 19 multiple types MONDO:0005129 OMIM:615277 OMIMPS:116200 cataract +MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0015626 OMIM:615284 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0018542 OMIM:615285 OMIMPS:202700 severe congenital neutropenia +MONDO:0014128 TCF12-related craniosynostosis MONDO:0015469 OMIM:615314 OMIMPS:123100 craniosynostosis +MONDO:0014130 Dowling-Degos disease 2 MONDO:0000118 OMIM:615327 OMIMPS:179850 reticulate pigment disorder +MONDO:0014133 developmental and epileptic encephalopathy, 16 MONDO:0100062 OMIM:615338 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014138 nemaline myopathy 8 MONDO:0018958 OMIM:615348 OMIMPS:161800 nemaline myopathy +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0020066 OMIM:615349 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0016295 OMIM:615362 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0014150 developmental and epileptic encephalopathy 94 MONDO:0100062 OMIM:615369 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0015626 OMIM:615376 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0021094 OMIM:615387 OMIMPS:300755 immunodeficiency disease +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency MONDO:0021094 OMIM:615401 OMIMPS:300755 immunodeficiency disease +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0021094 OMIM:615468 OMIMPS:300755 immunodeficiency disease +MONDO:0014198 mitochondrial DNA depletion syndrome 13 MONDO:0018158 OMIM:615471 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0014208 Charcot-Marie-Tooth disease type 2R MONDO:0015626 OMIM:615490 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014222 immunodeficiency 14 MONDO:0021094 OMIM:615513 OMIMPS:300755 immunodeficiency disease +MONDO:0014231 juvenile onset Parkinson disease 19A MONDO:0005180 OMIM:615528 OMIMPS:168600 Parkinson disease +MONDO:0014233 early-onset Parkinson disease 20 MONDO:0005180 OMIM:615530 OMIMPS:168600 Parkinson disease +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:0020066 OMIM:615539 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0014257 nephrotic syndrome, type 9 MONDO:0002350 OMIM:615573 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014259 neuronopathy, distal hereditary motor, type 2D MONDO:0015362 OMIM:615575 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0021094 OMIM:615592 OMIMPS:300755 immunodeficiency disease +MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0021094 OMIM:615593 OMIMPS:300755 immunodeficiency disease +MONDO:0014275 Fanconi renotubular syndrome 3 MONDO:0100238 OMIM:615605 OMIMPS:134600 inherited Fanconi renotubular syndrome +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0021094 OMIM:615607 OMIMPS:300755 immunodeficiency disease +MONDO:0014278 immunodeficiency 18 MONDO:0021094 OMIM:615615 OMIMPS:300755 immunodeficiency disease +MONDO:0014280 immunodeficiency 19 MONDO:0021094 OMIM:615617 OMIMPS:300755 immunodeficiency disease +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0019064 OMIM:615625 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014285 congenital dyserythropoietic anemia type type 1B MONDO:0019403 OMIM:615631 OMIMPS:224120 congenital dyserythropoietic anemia +MONDO:0014286 neuropathy, hereditary sensory, type 1F MONDO:0015364 OMIM:615632 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0019064 OMIM:615658 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014301 dowling-degos disease 3 MONDO:0000118 OMIM:615674 OMIMPS:179850 reticulate pigment disorder +MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0019064 OMIM:615681 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0019064 OMIM:615683 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0019064 OMIM:615685 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0019064 OMIM:615686 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014307 Dowling-Degos disease 4 MONDO:0000118 OMIM:615696 OMIMPS:179850 reticulate pigment disorder +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0015244 OMIM:615705 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014326 nemaline myopathy 9 MONDO:0018958 OMIM:615731 OMIMPS:161800 nemaline myopathy +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0021094 OMIM:615758 OMIMPS:300755 immunodeficiency disease +MONDO:0014360 developmental and epileptic encephalopathy, 21 MONDO:0100062 OMIM:615833 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014373 nephrotic syndrome, type 10 MONDO:0002350 OMIM:615861 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014377 developmental and epileptic encephalopathy, 24 MONDO:0100062 OMIM:615871 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 MONDO:0019507 OMIM:615887 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0021094 OMIM:615897 OMIMPS:300755 immunodeficiency disease +MONDO:0014392 developmental and epileptic encephalopathy, 25 MONDO:0100062 OMIM:615905 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014410 spinocerebellar ataxia type 37 MONDO:0020380 OMIM:615945 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0020380 OMIM:615957 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014418 myopathy, centronuclear, 5 MONDO:0018947 OMIM:615959 OMIMPS:160150 centronuclear myopathy +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0021094 OMIM:615966 OMIMPS:300755 immunodeficiency disease +MONDO:0014453 immunodeficiency 36 MONDO:0021094 OMIM:616005 OMIMPS:300755 immunodeficiency disease +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0018542 OMIM:616022 OMIMPS:202700 severe congenital neutropenia +MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia MONDO:0018555 OMIM:616030 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0015626 OMIM:616039 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014475 spinocerebellar ataxia type 40 MONDO:0020380 OMIM:616053 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014477 developmental and epileptic encephalopathy, 26 MONDO:0100062 OMIM:616056 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014479 porokeratosis 8, disseminated superficial actinic type MONDO:0006602 OMIM:616063 OMIMPS:175800 porokeratosis +MONDO:0014485 pontocerebellar hypoplasia, type 1C MONDO:0020135 OMIM:616081 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0015244 OMIM:616127 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014508 vitelliform macular dystrophy 4 MONDO:0000390 OMIM:616151 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0014509 vitelliform macular dystrophy 5 MONDO:0000390 OMIM:616152 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S MONDO:0015626 OMIM:616155 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014513 nemaline myopathy 10 MONDO:0018958 OMIM:616165 OMIMPS:161800 nemaline myopathy +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:0015244 OMIM:616204 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014533 developmental and epileptic encephalopathy, 28 MONDO:0100062 OMIM:616211 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014534 lissencephaly 6 with microcephaly MONDO:0018838 OMIM:616212 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0014540 amelogenesis imperfecta type 1H MONDO:0019507 OMIM:616221 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014543 congenital myasthenic syndrome 14 MONDO:0018940 OMIM:616228 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014544 osteogenesis imperfecta type 16 MONDO:0019019 OMIM:616229 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014555 peeling skin syndrome type A MONDO:0019347 OMIM:616265 OMIMPS:270300 peeling skin syndrome +MONDO:0014560 amelogenesis imperfecta type 1F MONDO:0019507 OMIM:616270 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014565 cataract 43 MONDO:0005129 OMIM:616279 OMIMPS:116200 cataract +MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0015626 OMIM:616280 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0019064 OMIM:616282 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014578 congenital myasthenic syndrome 17 MONDO:0018940 OMIM:616304 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014580 intellectual disability, autosomal dominant 33 MONDO:0100172 OMIM:616311 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014581 congenital myasthenic syndrome 2A MONDO:0018940 OMIM:616313 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014582 congenital myasthenic syndrome 2C MONDO:0018940 OMIM:616314 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014583 congenital myasthenic syndrome 3A MONDO:0018940 OMIM:616321 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014584 congenital myasthenic syndrome 3B MONDO:0018940 OMIM:616322 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014585 congenital myasthenic syndrome 3C MONDO:0018940 OMIM:616323 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014586 congenital myasthenic syndrome 4B MONDO:0018940 OMIM:616324 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014587 congenital myasthenic syndrome 9 MONDO:0018940 OMIM:616325 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014588 congenital myasthenic syndrome 11 MONDO:0018940 OMIM:616326 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014591 autosomal dominant Robinow syndrome 2 MONDO:0019978 OMIM:616331 OMIMPS:268310 Robinow syndrome +MONDO:0014593 developmental and epileptic encephalopathy, 29 MONDO:0100062 OMIM:616339 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014598 developmental and epileptic encephalopathy, 31A MONDO:0100062 OMIM:616346 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014599 intellectual disability, autosomal dominant 34 MONDO:0100172 OMIM:616351 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014604 Parkinson disease 21 MONDO:0005180 OMIM:616361 OMIMPS:168600 Parkinson disease +MONDO:0014607 developmental and epileptic encephalopathy, 32 MONDO:0100062 OMIM:616366 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014615 trichothiodystrophy 2, photosensitive MONDO:0018053 OMIM:616390 OMIMPS:601675 trichothiodystrophy +MONDO:0014619 trichothiodystrophy 3, photosensitive MONDO:0018053 OMIM:616395 OMIMPS:601675 trichothiodystrophy +MONDO:0014620 myoclonic dystonia 26 MONDO:0044807 OMIM:616398 OMIMPS:128100 inherited dystonia +MONDO:0014625 developmental and epileptic encephalopathy, 33 MONDO:0100062 OMIM:616409 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014626 spinocerebellar ataxia type 41 MONDO:0020380 OMIM:616410 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014627 dystonia 27 MONDO:0044807 OMIM:616411 OMIMPS:128100 inherited dystonia +MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0019064 OMIM:616451 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0015626 OMIM:616491 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 OMIM:616494 OMIMPS:312080 leukodystrophy +MONDO:0014672 osteogenesis imperfecta type 17 MONDO:0019019 OMIM:616507 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014673 cataract 44 MONDO:0005129 OMIM:616509 OMIMPS:116200 cataract +MONDO:0014681 thyroid cancer, nonmedullary, 4 MONDO:0017896 OMIM:616534 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0014682 thyroid cancer, nonmedullary, 5 MONDO:0017896 OMIM:616535 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive MONDO:0000359 OMIM:616566 OMIMPS:277300 spondylocostal dysostosis +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0019064 OMIM:616586 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014705 craniosynostosis 6 MONDO:0015469 OMIM:616602 OMIMPS:123100 craniosynostosis +MONDO:0014706 cutis laxa, autosomal dominant 3 MONDO:0100237 OMIM:616603 OMIMPS:123700 inherited cutis laxa +MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0015626 OMIM:616625 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014713 porokeratosis 9, multiple types MONDO:0006602 OMIM:616631 OMIMPS:175800 porokeratosis +MONDO:0014718 developmental and epileptic encephalopathy, 34 MONDO:0100062 OMIM:616645 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0015626 OMIM:616668 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0019064 OMIM:616680 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0015626 OMIM:616684 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014735 Charcot-Marie-Tooth disease type 2Y MONDO:0015626 OMIM:616687 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z MONDO:0015626 OMIM:616688 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014742 Parkinson disease 22, autosomal dominant MONDO:0005180 OMIM:616710 OMIMPS:168600 Parkinson disease +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:0015776 OMIM:616716 OMIMPS:215100 rhizomelic chondrodysplasia punctata +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015244 OMIM:616719 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014745 congenital myasthenic syndrome 19 MONDO:0018940 OMIM:616720 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014752 nephrotic syndrome, type 11 MONDO:0002350 OMIM:616730 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014772 orofacial cleft 15 MONDO:0000358 OMIM:616788 OMIMPS:119530 orofacial cleft +MONDO:0014776 spinocerebellar ataxia type 42 MONDO:0020380 OMIM:616795 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 MONDO:0005180 OMIM:616840 OMIMPS:168600 Parkinson disease +MONDO:0014799 cataract 45 MONDO:0005129 OMIM:616851 OMIMPS:116200 cataract +MONDO:0014804 sideroblastic anemia 3 MONDO:0020099 OMIM:616860 OMIMPS:300751 inherited sideroblastic anemia +MONDO:0014808 congenital secretory sodium diarrhea 8 MONDO:0000824 OMIM:616868 OMIMPS:214700 congenital diarrhea +MONDO:0014817 nephrotic syndrome, type 12 MONDO:0002350 OMIM:616892 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014818 nephrotic syndrome, type 13 MONDO:0002350 OMIM:616893 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014819 autosomal dominant Robinow syndrome 3 MONDO:0019978 OMIM:616894 OMIMPS:268310 Robinow syndrome +MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0019064 OMIM:616907 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC MONDO:0015626 OMIM:616924 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014837 thrombocytopenia 6 MONDO:0100241 OMIM:616937 OMIMPS:313900 inherited thrombocytopenia +MONDO:0014840 agammaglobulinemia 8, autosomal dominant MONDO:0015977 OMIM:616941 OMIMPS:601495 agammaglobulinemia +MONDO:0014842 intellectual disability, autosomal dominant 41 MONDO:0100172 OMIM:616944 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0015244 OMIM:616949 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014858 intellectual disability, autosomal dominant 43 MONDO:0100172 OMIM:616977 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0018542 OMIM:617014 OMIMPS:202700 severe congenital neutropenia +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0015626 OMIM:617017 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014874 pontocerebellar hypoplasia, type 2F MONDO:0020135 OMIM:617026 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0014916 developmental and epileptic encephalopathy, 41 MONDO:0100062 OMIM:617105 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014917 developmental and epileptic encephalopathy, 42 MONDO:0100062 OMIM:617106 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014921 developmental and epileptic encephalopathy, 43 MONDO:0100062 OMIM:617113 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014933 developmental and epileptic encephalopathy, 44 MONDO:0100062 OMIM:617132 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014942 developmental and epileptic encephalopathy, 45 MONDO:0100062 OMIM:617153 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014947 developmental and epileptic encephalopathy, 46 MONDO:0100062 OMIM:617162 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014949 developmental and epileptic encephalopathy, 47 MONDO:0100062 OMIM:617166 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 MONDO:0020066 OMIM:617174 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 MONDO:0019507 OMIM:617217 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0019064 OMIM:617225 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014981 immunodeficiency 49 MONDO:0021094 OMIM:617237 OMIMPS:300755 immunodeficiency disease +MONDO:0015008 amelogenesis imperfecta, type 1J MONDO:0019507 OMIM:617297 OMIMPS:104500 amelogenesis imperfecta +MONDO:0015023 MYPN-related myopathy MONDO:0019952 OMIM:617336 OMIMPS:117000 congenital myopathy +MONDO:0015353 neuronopathy, distal hereditary motor, type 5A MONDO:0015362 OMIM:600794 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0100237 OMIM:219200 OMIMPS:123700 inherited cutis laxa +MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 MONDO:0020066 OMIM:130000 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 MONDO:0020066 OMIM:130010 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 MONDO:0020066 OMIM:601776 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 MONDO:0020066 OMIM:130070 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 MONDO:0020066 OMIM:130080 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive MONDO:0000359 OMIM:277300 OMIMPS:277300 spondylocostal dysostosis +MONDO:0020727 combined oxidative phosphorylation deficiency 22 MONDO:0000732 OMIM:616045 OMIMPS:609060 combined oxidative phosphorylation deficiency +MONDO:0020729 autosomal recessive agammaglobulinemia 1 MONDO:0015977 OMIM:601495 OMIMPS:601495 agammaglobulinemia +MONDO:0020820 distal arthrogryposis type 2B1 MONDO:0019942 OMIM:601680 OMIMPS:108120 distal arthrogryposis +MONDO:0020847 intellectual disability, autosomal dominant 58 MONDO:0100172 OMIM:618106 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0021020 Crigler-Najjar syndrome type 1 MONDO:0002408 OMIM:218800 OMIMPS:237450 hereditary hyperbilirubinemia +MONDO:0021547 amelogenesis imperfecta type 3B MONDO:0019507 OMIM:617607 OMIMPS:104500 amelogenesis imperfecta +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant MONDO:0016830 OMIM:181350 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A MONDO:0015364 OMIM:201300 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0024455 autosomal dominant Robinow syndrome 1 MONDO:0019978 OMIM:180700 OMIMPS:268310 Robinow syndrome +MONDO:0024456 anterior segment dysgenesis 3 MONDO:0019503 OMIM:601631 OMIMPS:107250 anterior segment dysgenesis +MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0018307 OMIM:256600 OMIMPS:234200 neurodegeneration with brain iron accumulation +MONDO:0024525 Fanconi renotubular syndrome 1 MONDO:0100238 OMIM:134600 OMIMPS:134600 inherited Fanconi renotubular syndrome +MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0000090 OMIM:157640 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0024534 Dowling-Degos disease 1 MONDO:0000118 OMIM:179850 OMIMPS:179850 reticulate pigment disorder +MONDO:0024543 brittle cornea syndrome 1 MONDO:0020066 OMIM:229200 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0024548 peeling skin syndrome 1 MONDO:0019347 OMIM:270300 OMIMPS:270300 peeling skin syndrome +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0016537 OMIM:308240 OMIMPS:308240 lymphoproliferative syndrome +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0021094 OMIM:308240 OMIMPS:300755 immunodeficiency disease +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:0016073 OMIM:309801 OMIMPS:309800 syndromic microphthalmia +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:0000137 OMIM:604004 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0024561 vitelliform macular dystrophy 3 MONDO:0000390 OMIM:608161 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0024569 optic atrophy 8 MONDO:0043878 OMIM:616648 OMIMPS:165500 hereditary optic atrophy +MONDO:0024570 hyperparathyroidism 4 MONDO:0016166 OMIM:617343 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0027451 autosomal recessive cutis laxa type 2D MONDO:0100237 OMIM:617403 OMIMPS:123700 inherited cutis laxa +MONDO:0027462 autosomal recessive cutis laxa type 2C MONDO:0100237 OMIM:617402 OMIMPS:123700 inherited cutis laxa +MONDO:0029130 polydactyly, postaxial, type A8 MONDO:0020927 OMIM:618123 OMIMPS:174200 postaxial polydactyly +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0021094 OMIM:618131 OMIMPS:300755 immunodeficiency disease +MONDO:0030482 spastic paraplegia 84, autosomal recessive MONDO:0019064 OMIM:619621 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0030512 spastic paraplegia 85, autosomal recessive MONDO:0019064 OMIM:619686 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 MONDO:0030831 OMIM:619708 OMIMPS:243150 gastrointestinal defect and immunodeficiency syndrome +MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0019064 OMIM:619735 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies MONDO:0021094 OMIM:619750 OMIMPS:300755 immunodeficiency disease +MONDO:0030860 neuronopathy, distal hereditary motor, type 5C MONDO:0015362 OMIM:619112 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0030910 intellectual disability, autosomal dominant 45 MONDO:0100172 OMIM:617600 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030911 intellectual disability, autosomal dominant 46 MONDO:0100172 OMIM:617601 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0100172 OMIM:617635 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030916 intellectual disability, autosomal dominant 50 MONDO:0100172 OMIM:617787 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030917 intellectual disability, autosomal dominant 51 MONDO:0100172 OMIM:617788 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030918 intellectual disability, autosomal dominant 52 MONDO:0100172 OMIM:617796 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030919 intellectual disability, autosomal dominant 53 MONDO:0100172 OMIM:617798 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030920 intellectual disability, autosomal dominant 54 MONDO:0100172 OMIM:617799 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures MONDO:0100172 OMIM:617831 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030922 intellectual disability, autosomal dominant 56 MONDO:0100172 OMIM:617854 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030981 immunodeficiency 79 MONDO:0021094 OMIM:619238 OMIMPS:300755 immunodeficiency disease +MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0000009 OMIM:619267 OMIMPS:231200 inherited bleeding disorder, platelet-type +MONDO:0031062 polycystic kidney disease 7 MONDO:0020642 OMIM:620056 OMIMPS:173900 polycystic kidney disease +MONDO:0031332 Glanzmann thrombasthenia 1 MONDO:0000009 OMIM:273800 OMIMPS:231200 inherited bleeding disorder, platelet-type +MONDO:0032485 intellectual developmental disorder 61 MONDO:0100172 OMIM:618009 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032569 isolated growth hormone deficiency, type 5 MONDO:0013099 OMIM:618160 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form +MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:0018838 OMIM:618325 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0032717 amelogenesis imperfecta, type 3C MONDO:0019507 OMIM:618386 OMIMPS:104500 amelogenesis imperfecta +MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE MONDO:0015626 OMIM:618400 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0032750 arthrogryposis, distal, type 2B2 MONDO:0019942 OMIM:618435 OMIMPS:108120 distal arthrogryposis +MONDO:0032751 arthrogryposis, distal, type 2B3 MONDO:0019942 OMIM:618436 OMIMPS:108120 distal arthrogryposis +MONDO:0032795 intellectual developmental disorder 59 MONDO:0100172 OMIM:618522 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032823 intellectual developmental disorder 60 with seizures MONDO:0100172 OMIM:618587 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032919 intellectual developmental disorder 62 MONDO:0100172 OMIM:618793 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly MONDO:0100172 OMIM:618825 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0033004 polycystic kidney disease 4 MONDO:0020642 OMIM:263200 OMIMPS:173900 polycystic kidney disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0017845 OMIM:617560 OMIMPS:108600 spastic ataxia +MONDO:0033281 polycystic kidney disease 5 MONDO:0020642 OMIM:617610 OMIMPS:173900 polycystic kidney disease +MONDO:0033480 spinocerebellar ataxia 45 MONDO:0020380 OMIM:617769 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0033481 spinocerebellar ataxia 46 MONDO:0020380 OMIM:617770 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0033492 Coffin-Siris syndrome 6 MONDO:0100172 OMIM:617808 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:0021094 OMIM:618986 OMIMPS:300755 immunodeficiency disease +MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:0021094 OMIM:618987 OMIMPS:300755 immunodeficiency disease +MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G MONDO:0015626 OMIM:617882 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant MONDO:0018542 OMIM:202700 OMIMPS:202700 severe congenital neutropenia +MONDO:0044329 osteogenesis imperfecta, type 18 MONDO:0019019 OMIM:617952 OMIMPS:166200 osteogenesis imperfecta +MONDO:0044721 severe combined immunodeficiency due to LAT deficiency MONDO:0021094 OMIM:617514 OMIMPS:300755 immunodeficiency disease +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency MONDO:0021094 OMIM:617827 OMIMPS:300755 immunodeficiency disease +MONDO:0049223 osteogenesis imperfecta, type 19 MONDO:0019019 OMIM:301014 OMIMPS:166200 osteogenesis imperfecta +MONDO:0054549 peroxisome biogenesis disorder 10B MONDO:0019234 OMIM:617370 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0015626 OMIM:618036 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0054837 intellectual disability, autosomal dominant 57 MONDO:0100172 OMIM:618050 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease MONDO:0020642 OMIM:618061 OMIMPS:173900 polycystic kidney disease +MONDO:0060550 polydactyly, postaxial, type a7 MONDO:0020927 OMIM:617642 OMIMPS:174200 postaxial polydactyly +MONDO:0060729 protoporphyria, erythropoietic, 2 MONDO:0001676 OMIM:618015 OMIMPS:177000 erythropoietic protoporphyria +MONDO:0100352 episodic kinesigenic dyskinesia 1 MONDO:0044807 OMIM:128200 OMIMPS:128100 inherited dystonia +MONDO:0100433 ACTB-associated syndromic thrombocytopenia MONDO:0100241 OMIM:620475 OMIMPS:313900 inherited thrombocytopenia +MONDO:0100522 hypotrichosis 4 MONDO:0003037 OMIM:146550 OMIMPS:605389 hypotrichosis +MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 OMIM:310300 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0700087 Usher syndrome type 1B MONDO:0019501 OMIM:276900 OMIMPS:276900 Usher syndrome +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0044807 OMIM:118800 OMIMPS:128100 inherited dystonia +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy +MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive MONDO:0007239 OMIM:620707 OMIMPS:113800 epidermolytic ichthyosis +MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant MONDO:0007239 OMIM:620150 OMIMPS:113800 epidermolytic ichthyosis +MONDO:0800104 immunodeficiency 105 MONDO:0021094 OMIM:619924 OMIMPS:300755 immunodeficiency disease +MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0020074 OMIM:620681 OMIMPS:254800 progressive myoclonus epilepsy +MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0044807 OMIM:620245 OMIMPS:128100 inherited dystonia +MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 MONDO:0100172 OMIM:620450 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:0100223 OMIM:619382 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type +MONDO:0958199 myoclonic epilepsy of Lafora 1 MONDO:0020074 OMIM:254780 OMIMPS:254800 progressive myoclonus epilepsy +MONDO:0958335 cutis laxa, autosomal recessive, type 1d MONDO:0100237 OMIM:620780 OMIMPS:123700 inherited cutis laxa +MONDO:0971005 MHC class II deficiency 1 MONDO:0031520 OMIM:209920 OMIMPS:601457 familial severe combined immunodeficiency +MONDO:0971178 polycystic kidney disease 8 MONDO:0020642 OMIM:620903 OMIMPS:173900 polycystic kidney disease diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index b9a456ce..bd615d69 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -226,6 +226,7 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 MONDO:0017896 OMIM:188550 OMIMPS:1 MONDO:0008582 tooth and nail syndrome MONDO:0019287 OMIM:189500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 OMIM:190300 OMIMPS:190300 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0017951 OMIM:190350 OMIMPS:190350 trichorhinophalangeal syndrome +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0017951 OMIM:190351 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0008603 trigonocephaly 1 MONDO:0018065 OMIM:190440 OMIMPS:190440 isolated trigonocephaly MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 OMIM:191100 OMIMPS:191100 tuberous sclerosis MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 OMIM:191390 OMIMPS:266600 inflammatory bowel disease @@ -707,6 +708,7 @@ MONDO:0010985 epilepsy, familial adult myoclonic, 1 MONDO:0000160 OMIM:601068 OM MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0019588 OMIM:601071 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0021944 OMIM:601071 OMIMPS:609129 auditory neuropathy MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 MONDO:0019588 OMIM:601072 OMIMPS:220290 hearing loss, autosomal recessive +MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 MONDO:0019180 OMIM:601101 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:0019037 OMIM:601104 OMIMPS:601104 progressive supranuclear palsy MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0005500 OMIM:601110 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011001 Brugada syndrome 1 MONDO:0015263 OMIM:601144 OMIMPS:601144 Brugada syndrome @@ -1997,7 +1999,6 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:0016349 OMIM:615219 OMIMPS:236600 congenital hydrocephalus MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 OMIM:615222 OMIMPS:607326 Smith-McCort dysplasia MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 OMIM:615224 OMIMPS:604348 advanced sleep phase syndrome -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 OMIM:615233 OMIMPS:268000 retinitis pigmentosa MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0000104 OMIM:615234 OMIMPS:206100 anemia, hypochromic microcytic with iron overload MONDO:0014095 dilated cardiomyopathy 1JJ MONDO:0016333 OMIM:615235 OMIMPS:115200 familial dilated cardiomyopathy @@ -2982,7 +2983,6 @@ MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0100223 MONDO:0030998 hearing loss, autosomal dominant 80 MONDO:0019587 OMIM:619274 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031400 OMIM:619951 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031003 hypercholanemia, familial, 2 MONDO:0100327 OMIM:619256 OMIMPS:607748 hypercholanemia, familial -MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0100326 OMIM:619267 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031169 OMIM:619269 OMIMPS:184260 odontochondrodysplasia MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 OMIM:619966 OMIMPS:303350 hereditary spastic paraplegia @@ -3482,7 +3482,6 @@ MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO: MONDO:0100436 cataract 2, multiple types MONDO:0005129 OMIM:604307 OMIMPS:116200 cataract MONDO:0100467 preeclampsia/eclampsia 1 MONDO:0005081 OMIM:189800 OMIMPS:189800 preeclampsia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 MONDO:0015855 OMIM:113700 OMIMPS:113700 isolated congenital breast hypoplasia/aplasia -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy MONDO:0700112 heterotaxy, visceral, 5, autosomal MONDO:0018677 OMIM:270100 OMIMPS:306955 visceral heterotaxy MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 OMIM:113800 OMIMPS:113800 epidermolytic ichthyosis MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 MONDO:0033885 OMIM:220110 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type @@ -3502,6 +3501,7 @@ MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 famil MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0009697 OMIM:620681 OMIMPS:254780 Lafora disease +MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 OMIM:616901 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index 8e45b6ed..5940c11d 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -729,6 +729,7 @@ MONDO:0014791 Luscan-Lumish syndrome MONDO:0019716 Orphanet:597738 Orphanet:9346 MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome MONDO:0850064 Orphanet:488647 Orphanet:619340 inherited hematologic cancer-predisposing syndrome MONDO:0014821 complex lethal osteochondrodysplasia MONDO:0005308 Orphanet:457378 Orphanet:363250 ciliopathy MONDO:0014822 15q14 microdeletion syndrome MONDO:0958091 Orphanet:261190 Orphanet:652519 cleft palate-congenital heart defect-intellectual disability syndrome +MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015653 Orphanet:488613 Orphanet:166472 monogenic epilepsy MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:0015159 Orphanet:494344 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014867 spinocerebellar ataxia 43 MONDO:0019792 Orphanet:497764 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0005308 Orphanet:464366 Orphanet:363250 ciliopathy diff --git a/src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv new file mode 100644 index 00000000..5701f335 --- /dev/null +++ b/src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -0,0 +1,4538 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source +MONDO:0000023 infantile liver failure MONDO:0000001 Orphanet:464724 Orphanet:377788 disease +MONDO:0000050 isolated congenital growth hormone deficiency MONDO:0000001 Orphanet:631 Orphanet:377788 disease +MONDO:0000050 isolated congenital growth hormone deficiency MONDO:0019824 Orphanet:631 Orphanet:95488 non-acquired pituitary hormone deficiency +MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO:0000001 Orphanet:2340 Orphanet:377788 disease +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0000001 Orphanet:899 Orphanet:377788 disease +MONDO:0000179 Neu-Laxova syndrome MONDO:0018162 Orphanet:2671 Orphanet:35705 neurometabolic disorder due to serine deficiency +MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO:0000001 Orphanet:486811 Orphanet:377788 disease +MONDO:0000211 striatal degeneration, autosomal dominant MONDO:0000001 Orphanet:228169 Orphanet:377788 disease +MONDO:0000212 hypercalcemia, infantile MONDO:0000001 Orphanet:300547 Orphanet:377788 disease +MONDO:0000330 endemic typhus MONDO:0000001 Orphanet:83315 Orphanet:377788 disease +MONDO:0000355 Ullrich congenital muscular dystrophy MONDO:0000001 Orphanet:75840 Orphanet:377788 disease +MONDO:0000453 short QT syndrome MONDO:0000001 Orphanet:51083 Orphanet:377788 disease +MONDO:0000455 cone dystrophy MONDO:0000001 Orphanet:1871 Orphanet:377788 disease +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000001 Orphanet:52430 Orphanet:377788 disease +MONDO:0000565 infective endocarditis MONDO:0000001 Orphanet:570762 Orphanet:377788 disease +MONDO:0000645 fallopian tube benign neoplasm MONDO:0000001 Orphanet:180237 Orphanet:377788 disease +MONDO:0000736 dyschromatosis universalis hereditaria MONDO:0000001 Orphanet:241 Orphanet:377788 disease +MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0000001 Orphanet:2598 Orphanet:377788 disease +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0000001 Orphanet:1496 Orphanet:377788 disease +MONDO:0000903 myoclonus-dystonia syndrome MONDO:0000001 Orphanet:36899 Orphanet:377788 disease +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0000001 Orphanet:136 Orphanet:377788 disease +MONDO:0001032 Mooren ulcer MONDO:0000001 Orphanet:519408 Orphanet:377788 disease +MONDO:0001195 spotted fever MONDO:0006956 Orphanet:102022 Orphanet:102021 Rickettsiosis +MONDO:0001246 typhus MONDO:0006956 Orphanet:102023 Orphanet:102021 Rickettsiosis +MONDO:0001280 choroiditis MONDO:0020283 Orphanet:280892 Orphanet:98715 uveitis +MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0000001 Orphanet:269 Orphanet:377788 disease +MONDO:0001444 Chagas disease MONDO:0000001 Orphanet:3386 Orphanet:377788 disease +MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0000001 Orphanet:579 Orphanet:377788 disease +MONDO:0001595 choreatic disease MONDO:0000001 Orphanet:1429 Orphanet:377788 disease +MONDO:0001633 central retinal artery occlusion MONDO:0000001 Orphanet:648684 Orphanet:377788 disease +MONDO:0001734 tuberous sclerosis MONDO:0000001 Orphanet:805 Orphanet:377788 disease +MONDO:0001881 toxic shock syndrome MONDO:0000001 Orphanet:36234 Orphanet:377788 disease +MONDO:0001945 postencephalitic Parkinson disease MONDO:0000001 Orphanet:97349 Orphanet:377788 disease +MONDO:0001956 capillary leak syndrome MONDO:0000001 Orphanet:188 Orphanet:377788 disease +MONDO:0001971 farmer's lung disease MONDO:0000001 Orphanet:99906 Orphanet:377788 disease +MONDO:0002096 malignant conjunctival melanoma MONDO:0000001 Orphanet:617910 Orphanet:377788 disease +MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0000001 Orphanet:2023 Orphanet:377788 disease +MONDO:0002158 fallopian tube cancer MONDO:0000001 Orphanet:180242 Orphanet:377788 disease +MONDO:0002413 glycogen storage disease I MONDO:0000001 Orphanet:364 Orphanet:377788 disease +MONDO:0002422 adamantinoma MONDO:0000001 Orphanet:55881 Orphanet:377788 disease +MONDO:0002422 adamantinoma MONDO:0019060 Orphanet:55881 Orphanet:68411 bone neoplasm +MONDO:0002441 Jervell and Lange-Nielsen syndrome MONDO:0000001 Orphanet:90647 Orphanet:377788 disease +MONDO:0002474 primary hyperoxaluria MONDO:0000001 Orphanet:416 Orphanet:377788 disease +MONDO:0002546 schwannoma MONDO:0000001 Orphanet:252164 Orphanet:377788 disease +MONDO:0002571 primary central nervous system lymphoma MONDO:0000001 Orphanet:46135 Orphanet:377788 disease +MONDO:0002629 bone osteosarcoma MONDO:0000001 Orphanet:668 Orphanet:377788 disease +MONDO:0002653 Paget disease of the penis MONDO:0000001 Orphanet:398053 Orphanet:377788 disease +MONDO:0002653 Paget disease of the penis MONDO:0001325 Orphanet:398053 Orphanet:398043 penile cancer +MONDO:0002684 atypical choroid plexus papilloma MONDO:0000001 Orphanet:251902 Orphanet:377788 disease +MONDO:0002687 superior mesenteric artery syndrome MONDO:0000001 Orphanet:622099 Orphanet:377788 disease +MONDO:0002697 ovarian gonadoblastoma MONDO:0000001 Orphanet:206484 Orphanet:377788 disease +MONDO:0002697 ovarian gonadoblastoma MONDO:0018365 Orphanet:206484 Orphanet:398940 malignant non-epithelial tumor of ovary +MONDO:0002728 rhabdoid tumor MONDO:0000001 Orphanet:69077 Orphanet:377788 disease +MONDO:0002735 anal canal adenocarcinoma MONDO:0000001 Orphanet:424016 Orphanet:377788 disease +MONDO:0002752 ovarian adenocarcinoma MONDO:0000001 Orphanet:213504 Orphanet:377788 disease +MONDO:0002752 ovarian adenocarcinoma MONDO:0018364 Orphanet:213504 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0002876 cervical adenosarcoma MONDO:0000001 Orphanet:213792 Orphanet:377788 disease +MONDO:0002877 cervical carcinosarcoma MONDO:0000001 Orphanet:213787 Orphanet:377788 disease +MONDO:0002878 uterine corpus adenosarcoma MONDO:0000001 Orphanet:213600 Orphanet:377788 disease +MONDO:0002878 uterine corpus adenosarcoma MONDO:0016255 Orphanet:213600 Orphanet:213589 uterine corpus mixed epithelial and mesenchymal neoplasm +MONDO:0002882 colon neuroendocrine neoplasm MONDO:0000001 Orphanet:100080 Orphanet:377788 disease +MONDO:0002955 vulva basal cell carcinoma MONDO:0005215 Orphanet:494451 Orphanet:494418 vulvar carcinoma +MONDO:0003011 mucinous tubular and spindle renal cell carcinoma MONDO:0000001 Orphanet:319322 Orphanet:377788 disease +MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0000001 Orphanet:100075 Orphanet:377788 disease +MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0000001 Orphanet:363489 Orphanet:377788 disease +MONDO:0003198 small intestine adenocarcinoma MONDO:0000001 Orphanet:104075 Orphanet:377788 disease +MONDO:0003258 hobnail hemangioma MONDO:0000001 Orphanet:675362 Orphanet:377788 disease +MONDO:0003345 hilar cholangiocarcinoma MONDO:0000001 Orphanet:99978 Orphanet:377788 disease +MONDO:0003345 hilar cholangiocarcinoma MONDO:0018918 Orphanet:99978 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract +MONDO:0003360 small intestine leiomyosarcoma MONDO:0000001 Orphanet:104076 Orphanet:377788 disease +MONDO:0003414 skin pilomatrix carcinoma MONDO:0000001 Orphanet:499182 Orphanet:377788 disease +MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0000001 Orphanet:145 Orphanet:377788 disease +MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0000001 Orphanet:424073 Orphanet:377788 disease +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0000001 Orphanet:100081 Orphanet:377788 disease +MONDO:0003649 esophageal neuroendocrine tumor MONDO:0000001 Orphanet:506136 Orphanet:377788 disease +MONDO:0003669 testicular seminoma MONDO:0000001 Orphanet:842 Orphanet:377788 disease +MONDO:0003669 testicular seminoma MONDO:0010108 Orphanet:842 Orphanet:363504 testicular germ cell tumor +MONDO:0003789 hereditary papillary renal cell carcinoma MONDO:0000001 Orphanet:47044 Orphanet:377788 disease +MONDO:0003792 ovarian carcinosarcoma MONDO:0000001 Orphanet:213512 Orphanet:377788 disease +MONDO:0003792 ovarian carcinosarcoma MONDO:0018364 Orphanet:213512 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0003795 ovarian small cell carcinoma MONDO:0000001 Orphanet:370396 Orphanet:377788 disease +MONDO:0003999 juvenile pilocytic astrocytoma MONDO:0016691 Orphanet:673580 Orphanet:251612 pilocytic astrocytoma +MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO:0000001 Orphanet:284400 Orphanet:377788 disease +MONDO:0004132 anal canal squamous cell carcinoma MONDO:0000001 Orphanet:424019 Orphanet:377788 disease +MONDO:0004150 breast giant fibroadenoma MONDO:0000001 Orphanet:180267 Orphanet:377788 disease +MONDO:0004187 nodular fasciitis MONDO:0000001 Orphanet:477742 Orphanet:377788 disease +MONDO:0004216 pineal region germinoma MONDO:0015935 Orphanet:91352 Orphanet:182127 extragonadal germinoma +MONDO:0004234 chronic lymphoproliferative disorder of NK-cells MONDO:0000001 Orphanet:512017 Orphanet:377788 disease +MONDO:0004241 Osgood-Schlatter disease MONDO:0000001 Orphanet:97335 Orphanet:377788 disease +MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma MONDO:0000001 Orphanet:424058 Orphanet:377788 disease +MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO:0000001 Orphanet:506075 Orphanet:377788 disease +MONDO:0004351 intraocular lymphoma MONDO:0000001 Orphanet:279904 Orphanet:377788 disease +MONDO:0004380 dendritic cell sarcoma MONDO:0000001 Orphanet:86903 Orphanet:377788 disease +MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant MONDO:0000001 Orphanet:213833 Orphanet:377788 disease +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0000001 Orphanet:98824 Orphanet:377788 disease +MONDO:0004672 fasciolopsiasis MONDO:0000001 Orphanet:658909 Orphanet:377788 disease +MONDO:0004684 plantar fibromatosis MONDO:0000001 Orphanet:199251 Orphanet:377788 disease +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0000001 Orphanet:730 Orphanet:377788 disease +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0019741 Orphanet:730 Orphanet:93587 familial cystic renal disease +MONDO:0004772 glaucomatocyclitic crisis MONDO:0000001 Orphanet:636950 Orphanet:377788 disease +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0000001 Orphanet:67038 Orphanet:377788 disease +MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0000001 Orphanet:502363 Orphanet:377788 disease +MONDO:0004959 plasma cell neoplasm MONDO:0015757 Orphanet:98282 Orphanet:171898 lymphoid hemopathy +MONDO:0004976 amyotrophic lateral sclerosis MONDO:0000001 Orphanet:803 Orphanet:377788 disease +MONDO:0004977 angioimmunoblastic T-cell lymphoma MONDO:0000001 Orphanet:86886 Orphanet:377788 disease +MONDO:0004977 angioimmunoblastic T-cell lymphoma MONDO:0015760 Orphanet:86886 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0005005 clear cell renal carcinoma MONDO:0000001 Orphanet:319276 Orphanet:377788 disease +MONDO:0005005 clear cell renal carcinoma MONDO:0005086 Orphanet:319276 Orphanet:217071 renal cell carcinoma +MONDO:0005006 clear cell sarcoma of kidney MONDO:0000001 Orphanet:457246 Orphanet:377788 disease +MONDO:0005021 dilated cardiomyopathy MONDO:0004994 Orphanet:217604 Orphanet:167848 cardiomyopathy +MONDO:0005028 esophageal adenocarcinoma MONDO:0000001 Orphanet:99976 Orphanet:377788 disease +MONDO:0005029 essential thrombocythemia MONDO:0000001 Orphanet:3318 Orphanet:377788 disease +MONDO:0005033 ganglioneuroma MONDO:0000001 Orphanet:251992 Orphanet:377788 disease +MONDO:0005035 ganglioneuroblastoma MONDO:0000001 Orphanet:251877 Orphanet:377788 disease +MONDO:0005045 hypertrophic cardiomyopathy MONDO:0004994 Orphanet:217569 Orphanet:167848 cardiomyopathy +MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0000001 Orphanet:97279 Orphanet:377788 disease +MONDO:0005055 Kaposi's sarcoma MONDO:0000001 Orphanet:33276 Orphanet:377788 disease +MONDO:0005055 Kaposi's sarcoma MONDO:0018078 Orphanet:33276 Orphanet:3394 soft tissue sarcoma +MONDO:0005058 leiomyosarcoma MONDO:0000001 Orphanet:64720 Orphanet:377788 disease +MONDO:0005060 liposarcoma MONDO:0000001 Orphanet:69078 Orphanet:377788 disease +MONDO:0005072 neuroblastoma MONDO:0000001 Orphanet:635 Orphanet:377788 disease +MONDO:0005077 pertussis MONDO:0000001 Orphanet:1489 Orphanet:377788 disease +MONDO:0005081 preeclampsia MONDO:0000001 Orphanet:275555 Orphanet:377788 disease +MONDO:0005091 severe acute respiratory syndrome MONDO:0000001 Orphanet:140896 Orphanet:377788 disease +MONDO:0005100 systemic sclerosis MONDO:0000001 Orphanet:90291 Orphanet:377788 disease +MONDO:0005115 temporal lobe epilepsy MONDO:0000001 Orphanet:98819 Orphanet:377788 disease +MONDO:0005116 Whipple disease MONDO:0000001 Orphanet:3452 Orphanet:377788 disease +MONDO:0005124 leprosy MONDO:0000001 Orphanet:548 Orphanet:377788 disease +MONDO:0005136 malaria MONDO:0000001 Orphanet:673 Orphanet:377788 disease +MONDO:0005153 cervical adenocarcinoma MONDO:0000001 Orphanet:213772 Orphanet:377788 disease +MONDO:0005164 fibrosarcoma MONDO:0000001 Orphanet:2030 Orphanet:377788 disease +MONDO:0005198 vulvar intraepithelial neoplasia MONDO:0000001 Orphanet:137583 Orphanet:377788 disease +MONDO:0005201 restrictive cardiomyopathy MONDO:0004994 Orphanet:217632 Orphanet:167848 cardiomyopathy +MONDO:0005212 rhabdomyosarcoma MONDO:0000001 Orphanet:780 Orphanet:377788 disease +MONDO:0005215 vulvar carcinoma MONDO:0000001 Orphanet:494418 Orphanet:377788 disease +MONDO:0005220 collecting duct carcinoma MONDO:0000001 Orphanet:247203 Orphanet:377788 disease +MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0000001 Orphanet:98832 Orphanet:377788 disease +MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0000001 Orphanet:98833 Orphanet:377788 disease +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0000001 Orphanet:98826 Orphanet:377788 disease +MONDO:0005313 necrotizing enterocolitis MONDO:0000001 Orphanet:391673 Orphanet:377788 disease +MONDO:0005321 Fuchs' endothelial dystrophy MONDO:0000001 Orphanet:98974 Orphanet:377788 disease +MONDO:0005342 IgA glomerulonephritis MONDO:0000001 Orphanet:34145 Orphanet:377788 disease +MONDO:0005342 IgA glomerulonephritis MONDO:0019722 Orphanet:34145 Orphanet:93548 glomerular disorder +MONDO:0005388 primary biliary cholangitis MONDO:0000001 Orphanet:186 Orphanet:377788 disease +MONDO:0005440 embryonal carcinoma MONDO:0000001 Orphanet:180226 Orphanet:377788 disease +MONDO:0005440 embryonal carcinoma MONDO:0020539 Orphanet:180226 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0005459 human African trypanosomiasis MONDO:0000001 Orphanet:3385 Orphanet:377788 disease +MONDO:0005498 botulism MONDO:0000001 Orphanet:1267 Orphanet:377788 disease +MONDO:0005502 dengue disease MONDO:0000001 Orphanet:99828 Orphanet:377788 disease +MONDO:0005504 diphtheria MONDO:0000001 Orphanet:1679 Orphanet:377788 disease +MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0000001 Orphanet:251946 Orphanet:377788 disease +MONDO:0005508 hereditary multiple osteochondromas MONDO:0000001 Orphanet:321 Orphanet:377788 disease +MONDO:0005512 malignant peritoneal mesothelioma MONDO:0000001 Orphanet:168811 Orphanet:377788 disease +MONDO:0005526 tetanus MONDO:0000001 Orphanet:3299 Orphanet:377788 disease +MONDO:0005563 nut midline carcinoma MONDO:0000001 Orphanet:443167 Orphanet:377788 disease +MONDO:0005571 polycythemia MONDO:0005570 Orphanet:98427 Orphanet:97992 hematologic disorder +MONDO:0005580 esophageal squamous cell carcinoma MONDO:0000001 Orphanet:99977 Orphanet:377788 disease +MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0000001 Orphanet:494550 Orphanet:377788 disease +MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0000001 Orphanet:398961 Orphanet:377788 disease +MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0018364 Orphanet:398961 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0005615 plasmacytoma MONDO:0000001 Orphanet:86855 Orphanet:377788 disease +MONDO:0005619 typhoid fever MONDO:0000001 Orphanet:99745 Orphanet:377788 disease +MONDO:0005620 cerebral amyloid angiopathy MONDO:0000001 Orphanet:85458 Orphanet:377788 disease +MONDO:0005620 cerebral amyloid angiopathy MONDO:0019065 Orphanet:85458 Orphanet:69 amyloidosis +MONDO:0005629 Acanthamoeba keratitis MONDO:0000001 Orphanet:67043 Orphanet:377788 disease +MONDO:0005631 actinomycosis MONDO:0000001 Orphanet:457095 Orphanet:377788 disease +MONDO:0005645 ancylostomiasis MONDO:0000001 Orphanet:78 Orphanet:377788 disease +MONDO:0005657 aspergillosis MONDO:0000001 Orphanet:1163 Orphanet:377788 disease +MONDO:0005661 babesiosis MONDO:0000001 Orphanet:108 Orphanet:377788 disease +MONDO:0005662 balantidiasis MONDO:0000001 Orphanet:1223 Orphanet:377788 disease +MONDO:0005668 bird fancier's lung MONDO:0000001 Orphanet:99908 Orphanet:377788 disease +MONDO:0005674 bone giant cell tumor MONDO:0000001 Orphanet:363976 Orphanet:377788 disease +MONDO:0005683 brucellosis MONDO:0000001 Orphanet:1304 Orphanet:377788 disease +MONDO:0005692 cat-scratch disease MONDO:0000001 Orphanet:50839 Orphanet:377788 disease +MONDO:0005696 central nervous system tuberculosis MONDO:0000001 Orphanet:641396 Orphanet:377788 disease +MONDO:0005696 central nervous system tuberculosis MONDO:0018076 Orphanet:641396 Orphanet:3389 tuberculosis +MONDO:0005696 central nervous system tuberculosis MONDO:0020010 Orphanet:641396 Orphanet:98010 infectious disorder of the nervous system +MONDO:0005705 clonorchiasis MONDO:0000001 Orphanet:658917 Orphanet:377788 disease +MONDO:0005706 coccidioidomycosis MONDO:0000001 Orphanet:228123 Orphanet:377788 disease +MONDO:0005708 Colorado tick fever MONDO:0000001 Orphanet:83595 Orphanet:377788 disease +MONDO:0005710 composite lymphoma MONDO:0000001 Orphanet:168966 Orphanet:377788 disease +MONDO:0005714 congenital syphilis MONDO:0000001 Orphanet:499009 Orphanet:377788 disease +MONDO:0005715 congenital toxoplasmosis MONDO:0000001 Orphanet:858 Orphanet:377788 disease +MONDO:0005724 cryptococcosis MONDO:0000001 Orphanet:1546 Orphanet:377788 disease +MONDO:0005725 cyclosporiasis MONDO:0000001 Orphanet:210 Orphanet:377788 disease +MONDO:0005736 eastern equine encephalitis MONDO:0000001 Orphanet:83594 Orphanet:377788 disease +MONDO:0005737 Ebola hemorrhagic fever MONDO:0000001 Orphanet:319218 Orphanet:377788 disease +MONDO:0005744 yolk sac tumor MONDO:0000001 Orphanet:876 Orphanet:377788 disease +MONDO:0005744 yolk sac tumor MONDO:0020539 Orphanet:876 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0005761 filarial elephantiasis MONDO:0000001 Orphanet:2035 Orphanet:377788 disease +MONDO:0005764 follicular dendritic cell sarcoma MONDO:0000001 Orphanet:86902 Orphanet:377788 disease +MONDO:0005769 geniculate herpes zoster MONDO:0000001 Orphanet:3020 Orphanet:377788 disease +MONDO:0005773 Gerstmann syndrome MONDO:0000001 Orphanet:221117 Orphanet:377788 disease +MONDO:0005774 glanders MONDO:0000001 Orphanet:659908 Orphanet:377788 disease +MONDO:0005789 hepatitis D virus infection MONDO:0000001 Orphanet:402823 Orphanet:377788 disease +MONDO:0005802 hymenolepiasis MONDO:0000001 Orphanet:401 Orphanet:377788 disease +MONDO:0005820 Lassa fever MONDO:0000001 Orphanet:99824 Orphanet:377788 disease +MONDO:0005820 Lassa fever MONDO:0018087 Orphanet:99824 Orphanet:341 viral hemorrhagic fever +MONDO:0005823 legionellosis MONDO:0000001 Orphanet:549 Orphanet:377788 disease +MONDO:0005825 leptospirosis MONDO:0000001 Orphanet:509 Orphanet:377788 disease +MONDO:0005828 listeriosis MONDO:0000001 Orphanet:533 Orphanet:377788 disease +MONDO:0005835 Lynch syndrome MONDO:0000001 Orphanet:144 Orphanet:377788 disease +MONDO:0005838 mansonelliasis MONDO:0000001 Orphanet:2459 Orphanet:377788 disease +MONDO:0005846 microsporidiosis MONDO:0000001 Orphanet:2552 Orphanet:377788 disease +MONDO:0005851 Miller Fisher syndrome MONDO:0000001 Orphanet:98919 Orphanet:377788 disease +MONDO:0005854 mixed connective tissue disease MONDO:0000001 Orphanet:809 Orphanet:377788 disease +MONDO:0005888 ornithosis MONDO:0000001 Orphanet:660053 Orphanet:377788 disease +MONDO:0005893 pancreatic endocrine carcinoma MONDO:0000001 Orphanet:506098 Orphanet:377788 disease +MONDO:0005894 paracoccidioidomycosis MONDO:0000001 Orphanet:73260 Orphanet:377788 disease +MONDO:0005895 paragonimiasis MONDO:0000001 Orphanet:658913 Orphanet:377788 disease +MONDO:0005916 placenta accreta MONDO:0000001 Orphanet:662721 Orphanet:377788 disease +MONDO:0005933 pulmonary blastoma MONDO:0000001 Orphanet:64741 Orphanet:377788 disease +MONDO:0005942 Reye syndrome MONDO:0000001 Orphanet:3096 Orphanet:377788 disease +MONDO:0005968 sporotrichosis MONDO:0000001 Orphanet:826 Orphanet:377788 disease +MONDO:0005969 st. Louis encephalitis MONDO:0000001 Orphanet:83484 Orphanet:377788 disease +MONDO:0005969 st. Louis encephalitis MONDO:0006009 Orphanet:83484 Orphanet:98252 viral encephalitis +MONDO:0005974 strongyloidiasis MONDO:0000001 Orphanet:76 Orphanet:377788 disease +MONDO:0005979 thoracic outlet syndrome MONDO:0000001 Orphanet:97330 Orphanet:377788 disease +MONDO:0005988 toxocariasis MONDO:0000001 Orphanet:3343 Orphanet:377788 disease +MONDO:0005991 trench fever MONDO:0000001 Orphanet:64694 Orphanet:377788 disease +MONDO:0006009 viral encephalitis MONDO:0019956 Orphanet:98252 Orphanet:97275 encephalitis +MONDO:0006009 viral encephalitis MONDO:0020010 Orphanet:98252 Orphanet:98010 infectious disorder of the nervous system +MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0000001 Orphanet:497188 Orphanet:377788 disease +MONDO:0006043 metaplastic breast carcinoma MONDO:0000001 Orphanet:213531 Orphanet:377788 disease +MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0000001 Orphanet:398971 Orphanet:377788 disease +MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0018364 Orphanet:398971 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0006079 ameloblastic carcinoma MONDO:0000001 Orphanet:314422 Orphanet:377788 disease +MONDO:0006131 cerebellar liponeurocytoma MONDO:0000001 Orphanet:251931 Orphanet:377788 disease +MONDO:0006132 cervical adenoid basal carcinoma MONDO:0000001 Orphanet:213828 Orphanet:377788 disease +MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0000001 Orphanet:213823 Orphanet:377788 disease +MONDO:0006143 cervical squamous cell carcinoma MONDO:0000001 Orphanet:213767 Orphanet:377788 disease +MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0000001 Orphanet:71274 Orphanet:377788 disease +MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0000001 Orphanet:401920 Orphanet:377788 disease +MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0018531 Orphanet:401920 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract +MONDO:0006230 gastric squamous cell carcinoma MONDO:0000001 Orphanet:418959 Orphanet:377788 disease +MONDO:0006248 hydatidiform mole MONDO:0000001 Orphanet:99927 Orphanet:377788 disease +MONDO:0006260 kidney medullary carcinoma MONDO:0000001 Orphanet:319319 Orphanet:377788 disease +MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0000001 Orphanet:538 Orphanet:377788 disease +MONDO:0006292 malignant mesothelioma MONDO:0000001 Orphanet:50251 Orphanet:377788 disease +MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0000001 Orphanet:454723 Orphanet:377788 disease +MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0018364 Orphanet:454723 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0006339 ovarian microcystic stromal tumor MONDO:0000001 Orphanet:569248 Orphanet:377788 disease +MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0000001 Orphanet:424046 Orphanet:377788 disease +MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO:0000001 Orphanet:595133 Orphanet:377788 disease +MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0000001 Orphanet:168816 Orphanet:377788 disease +MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0000001 Orphanet:251919 Orphanet:377788 disease +MONDO:0006372 pituicytoma MONDO:0000001 Orphanet:251623 Orphanet:377788 disease +MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0000001 Orphanet:178544 Orphanet:377788 disease +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy MONDO:0000001 Orphanet:158014 Orphanet:377788 disease +MONDO:0006447 testicular non-seminomatous germ cell tumor MONDO:0000001 Orphanet:363494 Orphanet:377788 disease +MONDO:0006451 thymic carcinoma MONDO:0000001 Orphanet:99868 Orphanet:377788 disease +MONDO:0006456 thymoma MONDO:0000001 Orphanet:99867 Orphanet:377788 disease +MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0000001 Orphanet:142 Orphanet:377788 disease +MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0000001 Orphanet:424080 Orphanet:377788 disease +MONDO:0006486 uveal melanoma MONDO:0000001 Orphanet:39044 Orphanet:377788 disease +MONDO:0006558 pemphigoid gestationis MONDO:0000001 Orphanet:63275 Orphanet:377788 disease +MONDO:0006558 pemphigoid gestationis MONDO:0019337 Orphanet:63275 Orphanet:79669 autoimmune bullous skin disease +MONDO:0006583 necrobiosis lipoidica MONDO:0000001 Orphanet:542592 Orphanet:377788 disease +MONDO:0006606 scleredema adultorum MONDO:0000001 Orphanet:352763 Orphanet:377788 disease +MONDO:0006614 subcorneal pustular dermatosis MONDO:0000001 Orphanet:48377 Orphanet:377788 disease +MONDO:0006639 adrenal cortex carcinoma MONDO:0000001 Orphanet:1501 Orphanet:377788 disease +MONDO:0006639 adrenal cortex carcinoma MONDO:0021227 Orphanet:1501 Orphanet:100091 adrenal gland neoplasm +MONDO:0006687 burning mouth syndrome MONDO:0000001 Orphanet:353253 Orphanet:377788 disease +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0000001 Orphanet:2932 Orphanet:377788 disease +MONDO:0006745 endometrioid stromal sarcoma MONDO:0000001 Orphanet:213711 Orphanet:377788 disease +MONDO:0006806 intermediate uveitis MONDO:0000001 Orphanet:279914 Orphanet:377788 disease +MONDO:0006825 kuru MONDO:0000001 Orphanet:454745 Orphanet:377788 disease +MONDO:0006851 meconium aspiration syndrome MONDO:0000001 Orphanet:70588 Orphanet:377788 disease +MONDO:0006861 myeloid sarcoma MONDO:0000001 Orphanet:86850 Orphanet:377788 disease +MONDO:0006908 pituitary apoplexy MONDO:0000001 Orphanet:95613 Orphanet:377788 disease +MONDO:0006913 pneumococcal meningitis MONDO:0000001 Orphanet:55655 Orphanet:377788 disease +MONDO:0006913 pneumococcal meningitis MONDO:0020010 Orphanet:55655 Orphanet:98010 infectious disorder of the nervous system +MONDO:0006941 rat-bite fever MONDO:0000001 Orphanet:31205 Orphanet:377788 disease +MONDO:0006952 retinopathy of prematurity MONDO:0000001 Orphanet:90050 Orphanet:377788 disease +MONDO:0006976 somatostatinoma MONDO:0000001 Orphanet:97283 Orphanet:377788 disease +MONDO:0007012 variant Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:576370 Orphanet:377788 disease +MONDO:0007031 familial abdominal aortic aneurysm MONDO:0000001 Orphanet:86 Orphanet:377788 disease +MONDO:0007037 Achondroplasia MONDO:0000001 Orphanet:15 Orphanet:377788 disease +MONDO:0007039 NF2-related schwannomatosis MONDO:0000001 Orphanet:637 Orphanet:377788 disease +MONDO:0007041 Apert syndrome MONDO:0015338 Orphanet:87 Orphanet:139393 syndromic craniosynostosis +MONDO:0007042 Saethre-Chotzen syndrome MONDO:0015338 Orphanet:794 Orphanet:139393 syndromic craniosynostosis +MONDO:0007043 Pfeiffer syndrome MONDO:0015338 Orphanet:710 Orphanet:139393 syndromic craniosynostosis +MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0000001 Orphanet:38 Orphanet:377788 disease +MONDO:0007048 acrokeratosis verruciformis MONDO:0000001 Orphanet:79151 Orphanet:377788 disease +MONDO:0007057 Acroosteolysis dominant type MONDO:0019707 Orphanet:955 Orphanet:93449 primary osteolysis +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0000001 Orphanet:277 Orphanet:377788 disease +MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0000001 Orphanet:46 Orphanet:377788 disease +MONDO:0007070 adiposis dolorosa MONDO:0000001 Orphanet:36397 Orphanet:377788 disease +MONDO:0007078 pseudohypoparathyroidism type 1A MONDO:0000001 Orphanet:79443 Orphanet:377788 disease +MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0000001 Orphanet:403 Orphanet:377788 disease +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0000001 Orphanet:1010 Orphanet:377788 disease +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0000001 Orphanet:1008 Orphanet:377788 disease +MONDO:0007097 Finnish type amyloidosis MONDO:0000001 Orphanet:85448 Orphanet:377788 disease +MONDO:0007097 Finnish type amyloidosis MONDO:0019065 Orphanet:85448 Orphanet:69 amyloidosis +MONDO:0007099 familial visceral amyloidosis MONDO:0000001 Orphanet:85450 Orphanet:377788 disease +MONDO:0007099 familial visceral amyloidosis MONDO:0019065 Orphanet:85450 Orphanet:69 amyloidosis +MONDO:0007100 familial amyloid neuropathy MONDO:0000001 Orphanet:271861 Orphanet:377788 disease +MONDO:0007100 familial amyloid neuropathy MONDO:0019065 Orphanet:271861 Orphanet:69 amyloidosis +MONDO:0007101 familial primary localized cutaneous amyloidosis MONDO:0000001 Orphanet:353220 Orphanet:377788 disease +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:0000001 Orphanet:90020 Orphanet:377788 disease +MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO:0000001 Orphanet:98870 Orphanet:377788 disease +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0000001 Orphanet:1062 Orphanet:377788 disease +MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0000001 Orphanet:468666 Orphanet:377788 disease +MONDO:0007137 isolated congenital anosmia MONDO:0000001 Orphanet:88620 Orphanet:377788 disease +MONDO:0007163 episodic ataxia type 2 MONDO:0000001 Orphanet:97 Orphanet:377788 disease +MONDO:0007164 spastic ataxia 1 MONDO:0000001 Orphanet:251282 Orphanet:377788 disease +MONDO:0007165 spastic ataxia 7 MONDO:0000001 Orphanet:1182 Orphanet:377788 disease +MONDO:0007174 Lown-Ganong-Levine syndrome MONDO:0000001 Orphanet:844 Orphanet:377788 disease +MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO:0000001 Orphanet:86813 Orphanet:377788 disease +MONDO:0007182 Machado-Joseph disease MONDO:0000001 Orphanet:98757 Orphanet:377788 disease +MONDO:0007191 Behcet disease MONDO:0000001 Orphanet:117 Orphanet:377788 disease +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome MONDO:0000001 Orphanet:1259 Orphanet:377788 disease +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0000001 Orphanet:85182 Orphanet:377788 disease +MONDO:0007208 Boomerang dysplasia MONDO:0000001 Orphanet:1263 Orphanet:377788 disease +MONDO:0007243 Burkitt lymphoma MONDO:0000001 Orphanet:543 Orphanet:377788 disease +MONDO:0007248 hereditary painful callosities MONDO:0000001 Orphanet:79141 Orphanet:377788 disease +MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0000001 Orphanet:363705 Orphanet:377788 disease +MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0016175 Orphanet:363705 Orphanet:209 cutis laxa +MONDO:0007269 dilated cardiomyopathy 1A MONDO:0000001 Orphanet:300751 Orphanet:377788 disease +MONDO:0007271 familial cutaneous collagenoma MONDO:0000001 Orphanet:53296 Orphanet:377788 disease +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency MONDO:0000001 Orphanet:199285 Orphanet:377788 disease +MONDO:0007294 central core myopathy MONDO:0000001 Orphanet:597 Orphanet:377788 disease +MONDO:0007295 childhood epilepsy with centrotemporal spikes MONDO:0000001 Orphanet:1945 Orphanet:377788 disease +MONDO:0007296 spinocerebellar ataxia type 31 MONDO:0000001 Orphanet:217012 Orphanet:377788 disease +MONDO:0007298 spinocerebellar ataxia type 29 MONDO:0000001 Orphanet:208513 Orphanet:377788 disease +MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0000001 Orphanet:101082 Orphanet:377788 disease +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 MONDO:0000001 Orphanet:99946 Orphanet:377788 disease +MONDO:0007309 Charcot-Marie-Tooth disease type 1A MONDO:0000001 Orphanet:101081 Orphanet:377788 disease +MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0000001 Orphanet:90658 Orphanet:377788 disease +MONDO:0007313 cheilitis glandularis MONDO:0000001 Orphanet:1221 Orphanet:377788 disease +MONDO:0007319 chondrocalcinosis 2 MONDO:0000001 Orphanet:1416 Orphanet:377788 disease +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:0015775 Orphanet:79346 Orphanet:176 non-rhizomelic chondrodysplasia punctata +MONDO:0007330 congenital pseudoarthrosis of clavicle MONDO:0000001 Orphanet:66630 Orphanet:377788 disease +MONDO:0007368 familial benign copper deficiency MONDO:0000001 Orphanet:1551 Orphanet:377788 disease +MONDO:0007369 hereditary coproporphyria MONDO:0000001 Orphanet:79273 Orphanet:377788 disease +MONDO:0007374 Schnyder corneal dystrophy MONDO:0000001 Orphanet:98967 Orphanet:377788 disease +MONDO:0007375 epithelial basement membrane dystrophy MONDO:0000001 Orphanet:98956 Orphanet:377788 disease +MONDO:0007376 fleck corneal dystrophy MONDO:0000001 Orphanet:98970 Orphanet:377788 disease +MONDO:0007377 granular corneal dystrophy type I MONDO:0000001 Orphanet:98962 Orphanet:377788 disease +MONDO:0007379 Meesmann corneal dystrophy MONDO:0000001 Orphanet:98954 Orphanet:377788 disease +MONDO:0007380 lattice corneal dystrophy type I MONDO:0000001 Orphanet:98964 Orphanet:377788 disease +MONDO:0007380 lattice corneal dystrophy type I MONDO:0020213 Orphanet:98964 Orphanet:98626 stromal corneal dystrophy +MONDO:0007381 epithelial recurrent erosion dystrophy MONDO:0000001 Orphanet:293381 Orphanet:377788 disease +MONDO:0007384 congenital trigeminal anesthesia MONDO:0000001 Orphanet:231013 Orphanet:377788 disease +MONDO:0007385 idiopathic spontaneous coronary artery dissection MONDO:0000001 Orphanet:458718 Orphanet:377788 disease +MONDO:0007400 Jackson-Weiss syndrome MONDO:0015338 Orphanet:1540 Orphanet:139393 syndromic craniosynostosis +MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:282166 Orphanet:377788 disease +MONDO:0007407 Cryoglobulinemic vasculitis MONDO:0000001 Orphanet:91138 Orphanet:377788 disease +MONDO:0007417 Darier disease MONDO:0000001 Orphanet:218 Orphanet:377788 disease +MONDO:0007422 keratoderma hereditarium mutilans MONDO:0000001 Orphanet:494 Orphanet:377788 disease +MONDO:0007434 primary failure of tooth eruption MONDO:0000001 Orphanet:412206 Orphanet:377788 disease +MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0000001 Orphanet:101 Orphanet:377788 disease +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome MONDO:0000001 Orphanet:99792 Orphanet:377788 disease +MONDO:0007445 dermatopathia pigmentosa reticularis MONDO:0000001 Orphanet:86920 Orphanet:377788 disease +MONDO:0007447 autosomal dominant vibratory urticaria MONDO:0000001 Orphanet:493342 Orphanet:377788 disease +MONDO:0007471 Doyne honeycomb retinal dystrophy MONDO:0000001 Orphanet:75376 Orphanet:377788 disease +MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0000001 Orphanet:41 Orphanet:377788 disease +MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO:0000001 Orphanet:352657 Orphanet:377788 disease +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0000001 Orphanet:256 Orphanet:377788 disease +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0000476 Orphanet:256 Orphanet:376724 generalized dystonia +MONDO:0007493 torsion dystonia 4 MONDO:0000001 Orphanet:98805 Orphanet:377788 disease +MONDO:0007496 dystonia 12 MONDO:0000001 Orphanet:71517 Orphanet:377788 disease +MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0000001 Orphanet:1658 Orphanet:377788 disease +MONDO:0007510 Clouston syndrome MONDO:0000001 Orphanet:189 Orphanet:377788 disease +MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0000001 Orphanet:287 Orphanet:377788 disease +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0000001 Orphanet:285 Orphanet:377788 disease +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type MONDO:0000001 Orphanet:1899 Orphanet:377788 disease +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type MONDO:0000001 Orphanet:75392 Orphanet:377788 disease +MONDO:0007529 elastosis perforans serpiginosa MONDO:0000001 Orphanet:79148 Orphanet:377788 disease +MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0000001 Orphanet:652 Orphanet:377788 disease +MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0000001 Orphanet:79411 Orphanet:377788 disease +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0000001 Orphanet:231568 Orphanet:377788 disease +MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe MONDO:0000001 Orphanet:79396 Orphanet:377788 disease +MONDO:0007551 epidermolysis bullosa simplex 1C, localized MONDO:0000001 Orphanet:79400 Orphanet:377788 disease +MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0000001 Orphanet:79399 Orphanet:377788 disease +MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type MONDO:0000001 Orphanet:79401 Orphanet:377788 disease +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0000001 Orphanet:79397 Orphanet:377788 disease +MONDO:0007558 self-limited childhood occipital epilepsy MONDO:0000001 Orphanet:25968 Orphanet:377788 disease +MONDO:0007560 reading seizures MONDO:0000001 Orphanet:166433 Orphanet:377788 disease +MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0000001 Orphanet:93308 Orphanet:377788 disease +MONDO:0007564 pilomatrixoma MONDO:0000001 Orphanet:91414 Orphanet:377788 disease +MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0000001 Orphanet:65748 Orphanet:377788 disease +MONDO:0007570 erythema palmare hereditarium MONDO:0000001 Orphanet:231031 Orphanet:377788 disease +MONDO:0007571 primary erythermalgia MONDO:0000001 Orphanet:90026 Orphanet:377788 disease +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0000001 Orphanet:90042 Orphanet:377788 disease +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0005571 Orphanet:90042 Orphanet:98427 polycythemia +MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0000001 Orphanet:1955 Orphanet:377788 disease +MONDO:0007592 familial recurrent peripheral facial palsy MONDO:0000001 Orphanet:2809 Orphanet:377788 disease +MONDO:0007600 primary Fanconi syndrome MONDO:0000001 Orphanet:3337 Orphanet:377788 disease +MONDO:0007600 primary Fanconi syndrome MONDO:0015962 Orphanet:3337 Orphanet:183592 inherited renal tubular disease +MONDO:0007603 Felty syndrome MONDO:0000001 Orphanet:47612 Orphanet:377788 disease +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0000001 Orphanet:337 Orphanet:377788 disease +MONDO:0007608 desmoid tumor MONDO:0000001 Orphanet:873 Orphanet:377788 disease +MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0000001 Orphanet:45358 Orphanet:377788 disease +MONDO:0007619 isolated congenital adermatoglyphia MONDO:0000001 Orphanet:289465 Orphanet:377788 disease +MONDO:0007624 Flynn-Aird syndrome MONDO:0000001 Orphanet:2047 Orphanet:377788 disease +MONDO:0007626 familial congenital palsy of trochlear nerve MONDO:0000001 Orphanet:91498 Orphanet:377788 disease +MONDO:0007630 North Carolina macular dystrophy MONDO:0000001 Orphanet:75327 Orphanet:377788 disease +MONDO:0007635 Frasier syndrome MONDO:0000001 Orphanet:347 Orphanet:377788 disease +MONDO:0007639 fundus albipunctatus MONDO:0000001 Orphanet:227796 Orphanet:377788 disease +MONDO:0007640 Sorsby fundus dystrophy MONDO:0000001 Orphanet:59181 Orphanet:377788 disease +MONDO:0007646 Gamstorp-Wohlfart syndrome MONDO:0000001 Orphanet:324442 Orphanet:377788 disease +MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0000001 Orphanet:26106 Orphanet:377788 disease +MONDO:0007650 MALT lymphoma MONDO:0000001 Orphanet:52417 Orphanet:377788 disease +MONDO:0007651 gastrocutaneous syndrome MONDO:0000001 Orphanet:2069 Orphanet:377788 disease +MONDO:0007652 gastric mucosal hypertrophy MONDO:0000001 Orphanet:2494 Orphanet:377788 disease +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:0000001 Orphanet:356 Orphanet:377788 disease +MONDO:0007660 familial ossifying fibroma MONDO:0000001 Orphanet:435329 Orphanet:377788 disease +MONDO:0007660 familial ossifying fibroma MONDO:0019060 Orphanet:435329 Orphanet:68411 bone neoplasm +MONDO:0007666 glaucoma-sleep apnea syndrome MONDO:0000001 Orphanet:2085 Orphanet:377788 disease +MONDO:0007667 subependymoma MONDO:0000001 Orphanet:251639 Orphanet:377788 disease +MONDO:0007667 subependymoma MONDO:0003266 Orphanet:251639 Orphanet:301 ependymal tumor +MONDO:0007669 renal cysts and diabetes syndrome MONDO:0015967 Orphanet:93111 Orphanet:183625 monogenic diabetes +MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) MONDO:0000001 Orphanet:69735 Orphanet:377788 disease +MONDO:0007671 fibronectin glomerulopathy MONDO:0000001 Orphanet:84090 Orphanet:377788 disease +MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0000001 Orphanet:276399 Orphanet:377788 disease +MONDO:0007686 gray platelet syndrome MONDO:0000001 Orphanet:721 Orphanet:377788 disease +MONDO:0007690 aromatase excess syndrome MONDO:0000001 Orphanet:178345 Orphanet:377788 disease +MONDO:0007700 hawkinsinuria MONDO:0000001 Orphanet:2118 Orphanet:377788 disease +MONDO:0007702 heart-hand syndrome type 3 MONDO:0015161 Orphanet:1342 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007702 heart-hand syndrome type 3 MONDO:0016432 Orphanet:1342 Orphanet:228184 heart-hand syndrome +MONDO:0007710 facial hemiatrophy MONDO:0000001 Orphanet:1214 Orphanet:377788 disease +MONDO:0007713 clonic hemifacial spasm MONDO:0000001 Orphanet:221083 Orphanet:377788 disease +MONDO:0007725 hereditary progressive mucinous histiocytosis MONDO:0000001 Orphanet:158025 Orphanet:377788 disease +MONDO:0007726 hip dysplasia, Beukes type MONDO:0000001 Orphanet:2114 Orphanet:377788 disease +MONDO:0007727 autosomal dominant familial periodic fever MONDO:0000001 Orphanet:32960 Orphanet:377788 disease +MONDO:0007735 congenital Horner syndrome MONDO:0000001 Orphanet:91413 Orphanet:377788 disease +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0000001 Orphanet:263463 Orphanet:377788 disease +MONDO:0007739 Huntington disease MONDO:0000001 Orphanet:399 Orphanet:377788 disease +MONDO:0007740 Wagner disease MONDO:0000001 Orphanet:898 Orphanet:377788 disease +MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0000001 Orphanet:79506 Orphanet:377788 disease +MONDO:0007747 isolated hyperchlorhidrosis MONDO:0000001 Orphanet:542657 Orphanet:377788 disease +MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0000001 Orphanet:409 Orphanet:377788 disease +MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0000001 Orphanet:1336 Orphanet:377788 disease +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0000001 Orphanet:2199 Orphanet:377788 disease +MONDO:0007765 hyperostosis cranialis interna MONDO:0000001 Orphanet:443098 Orphanet:377788 disease +MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0000001 Orphanet:99880 Orphanet:377788 disease +MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0000001 Orphanet:64748 Orphanet:377788 disease +MONDO:0007793 hypochondroplasia MONDO:0000001 Orphanet:429 Orphanet:377788 disease +MONDO:0007800 chromosome 18p deletion syndrome MONDO:0000001 Orphanet:1598 Orphanet:377788 disease +MONDO:0007803 multiple system atrophy MONDO:0000001 Orphanet:102 Orphanet:377788 disease +MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0000001 Orphanet:79503 Orphanet:377788 disease +MONDO:0007813 superficial epidermolytic ichthyosis MONDO:0000001 Orphanet:455 Orphanet:377788 disease +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0000001 Orphanet:2314 Orphanet:377788 disease +MONDO:0007827 inclusion body myositis MONDO:0000001 Orphanet:611 Orphanet:377788 disease +MONDO:0007841 coxopodopatellar syndrome MONDO:0000001 Orphanet:1509 Orphanet:377788 disease +MONDO:0007842 joint laxity, familial MONDO:0000001 Orphanet:2295 Orphanet:377788 disease +MONDO:0007848 autosomal dominant keratitis MONDO:0000001 Orphanet:2334 Orphanet:377788 disease +MONDO:0007849 keratitis fugax hereditaria MONDO:0000001 Orphanet:647815 Orphanet:377788 disease +MONDO:0007852 palmoplantar keratoderma-deafness syndrome MONDO:0000001 Orphanet:2202 Orphanet:377788 disease +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0000001 Orphanet:538574 Orphanet:377788 disease +MONDO:0007854 keratolytic winter erythema MONDO:0000001 Orphanet:50943 Orphanet:377788 disease +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0000001 Orphanet:2198 Orphanet:377788 disease +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome MONDO:0000001 Orphanet:86919 Orphanet:377788 disease +MONDO:0007860 focal palmoplantar and gingival keratoderma MONDO:0000001 Orphanet:2200 Orphanet:377788 disease +MONDO:0007863 Kleine-Levin syndrome MONDO:0000001 Orphanet:33543 Orphanet:377788 disease +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0000001 Orphanet:90308 Orphanet:377788 disease +MONDO:0007866 Bart-Pumphrey syndrome MONDO:0000001 Orphanet:2698 Orphanet:377788 disease +MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome MONDO:0000001 Orphanet:652522 Orphanet:377788 disease +MONDO:0007885 Legg-Calve-Perthes disease MONDO:0000001 Orphanet:2380 Orphanet:377788 disease +MONDO:0007885 Legg-Calve-Perthes disease MONDO:0022800 Orphanet:2380 Orphanet:93421 type 2 collagenopathy +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0000001 Orphanet:523 Orphanet:377788 disease +MONDO:0007891 familial generalized lentiginosis MONDO:0000001 Orphanet:231040 Orphanet:377788 disease +MONDO:0007896 acute monocytic leukemia MONDO:0000001 Orphanet:514 Orphanet:377788 disease +MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0000001 Orphanet:2348 Orphanet:377788 disease +MONDO:0007908 multiple symmetric lipomatosis MONDO:0000001 Orphanet:2398 Orphanet:377788 disease +MONDO:0007909 familial multiple lipomatosis MONDO:0000001 Orphanet:199276 Orphanet:377788 disease +MONDO:0007915 systemic lupus erythematosus MONDO:0000001 Orphanet:536 Orphanet:377788 disease +MONDO:0007916 primary intestinal lymphangiectasia MONDO:0000001 Orphanet:90362 Orphanet:377788 disease +MONDO:0007919 lymphatic malformation 1 MONDO:0000001 Orphanet:79452 Orphanet:377788 disease +MONDO:0007920 lymphatic malformation 5 MONDO:0000001 Orphanet:90186 Orphanet:377788 disease +MONDO:0007921 yellow nail syndrome MONDO:0000001 Orphanet:662 Orphanet:377788 disease +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0000001 Orphanet:86841 Orphanet:377788 disease +MONDO:0007931 vitelliform macular dystrophy 2 MONDO:0000001 Orphanet:1243 Orphanet:377788 disease +MONDO:0007934 benign concentric annular macular dystrophy MONDO:0000001 Orphanet:251287 Orphanet:377788 disease +MONDO:0007935 cystoid macular edema MONDO:0000001 Orphanet:75381 Orphanet:377788 disease +MONDO:0007937 renal hypomagnesemia 2 MONDO:0000001 Orphanet:34528 Orphanet:377788 disease +MONDO:0007937 renal hypomagnesemia 2 MONDO:0015962 Orphanet:34528 Orphanet:183592 inherited renal tubular disease +MONDO:0007937 renal hypomagnesemia 2 MONDO:0017765 Orphanet:34528 Orphanet:309848 disorder of magnesium transport +MONDO:0007943 Nager acrofacial dysostosis MONDO:0018237 Orphanet:245 Orphanet:364574 acrofacial dysostosis +MONDO:0007946 jaw-winking syndrome MONDO:0000001 Orphanet:91412 Orphanet:377788 disease +MONDO:0007947 Marfan syndrome MONDO:0000001 Orphanet:558 Orphanet:377788 disease +MONDO:0007958 familial medullary thyroid carcinoma MONDO:0000001 Orphanet:99361 Orphanet:377788 disease +MONDO:0007958 familial medullary thyroid carcinoma MONDO:0015075 Orphanet:99361 Orphanet:100088 thyroid gland carcinoma +MONDO:0007959 medulloblastoma MONDO:0000001 Orphanet:616 Orphanet:377788 disease +MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0000001 Orphanet:252206 Orphanet:377788 disease +MONDO:0007982 metaphyseal chondrodysplasia, Jansen type MONDO:0000001 Orphanet:33067 Orphanet:377788 disease +MONDO:0007983 Schmid metaphyseal chondrodysplasia MONDO:0000001 Orphanet:174 Orphanet:377788 disease +MONDO:0007986 metatropic dysplasia MONDO:0000001 Orphanet:2635 Orphanet:377788 disease +MONDO:0007987 Kniest dysplasia MONDO:0000001 Orphanet:485 Orphanet:377788 disease +MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO:0000001 Orphanet:2505 Orphanet:377788 disease +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0000001 Orphanet:254892 Orphanet:377788 disease +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0005181 Orphanet:254892 Orphanet:520820 progressive external ophthalmoplegia +MONDO:0008006 Mobius syndrome MONDO:0000001 Orphanet:570 Orphanet:377788 disease +MONDO:0008009 monilethrix MONDO:0000001 Orphanet:573 Orphanet:377788 disease +MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO:0000001 Orphanet:2579 Orphanet:377788 disease +MONDO:0008029 Bethlem myopathy MONDO:0000001 Orphanet:610 Orphanet:377788 disease +MONDO:0008039 tropical spastic paraparesis MONDO:0000001 Orphanet:289326 Orphanet:377788 disease +MONDO:0008040 transient myeloproliferative syndrome MONDO:0000001 Orphanet:420611 Orphanet:377788 disease +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0000001 Orphanet:2590 Orphanet:377788 disease +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0024257 Orphanet:2590 Orphanet:98505 hereditary motor neuron disease +MONDO:0008046 autosomal dominant myoglobinuria MONDO:0000001 Orphanet:99846 Orphanet:377788 disease +MONDO:0008047 episodic ataxia type 1 MONDO:0000001 Orphanet:37612 Orphanet:377788 disease +MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0000001 Orphanet:169189 Orphanet:377788 disease +MONDO:0008050 MYH7-related skeletal myopathy MONDO:0000001 Orphanet:59135 Orphanet:377788 disease +MONDO:0008051 tubular aggregate myopathy MONDO:0000001 Orphanet:2593 Orphanet:377788 disease +MONDO:0008054 juvenile dermatomyositis MONDO:0000001 Orphanet:93672 Orphanet:377788 disease +MONDO:0008056 myotonic dystrophy type 1 MONDO:0000001 Orphanet:273 Orphanet:377788 disease +MONDO:0008058 cylindrical spirals myopathy MONDO:0000001 Orphanet:171886 Orphanet:377788 disease +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0000001 Orphanet:69087 Orphanet:377788 disease +MONDO:0008060 nonsyndromic congenital nail disorder 1 MONDO:0000001 Orphanet:79153 Orphanet:377788 disease +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0000001 Orphanet:98904 Orphanet:377788 disease +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0016193 Orphanet:98904 Orphanet:209059 qualitative or quantitative defects of alpha-actin +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0019952 Orphanet:98904 Orphanet:97245 congenital myopathy +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension MONDO:0000001 Orphanet:88659 Orphanet:377788 disease +MONDO:0008075 schwannomatosis MONDO:0000001 Orphanet:93921 Orphanet:377788 disease +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0000001 Orphanet:228343 Orphanet:377788 disease +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0016295 Orphanet:228343 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0008090 cyclic hematopoiesis MONDO:0000001 Orphanet:2686 Orphanet:377788 disease +MONDO:0008092 hereditary neutrophilia MONDO:0000001 Orphanet:279943 Orphanet:377788 disease +MONDO:0008097 linear nevus sebaceous syndrome MONDO:0000001 Orphanet:2612 Orphanet:377788 disease +MONDO:0008109 ocular cicatricial pemphigoid MONDO:0000001 Orphanet:99922 Orphanet:377788 disease +MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:0000001 Orphanet:270 Orphanet:377788 disease +MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0000001 Orphanet:98755 Orphanet:377788 disease +MONDO:0008133 optic atrophy 3 MONDO:0000001 Orphanet:67036 Orphanet:377788 disease +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0000001 Orphanet:98673 Orphanet:377788 disease +MONDO:0008142 Thiemann disease, familial form MONDO:0000001 Orphanet:3314 Orphanet:377788 disease +MONDO:0008145 Ollier disease MONDO:0000001 Orphanet:296 Orphanet:377788 disease +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 Orphanet:216796 Orphanet:666 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 Orphanet:216804 Orphanet:666 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 Orphanet:216820 Orphanet:666 osteogenesis imperfecta +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:0017198 Orphanet:53 Orphanet:2781 osteopetrosis +MONDO:0008165 southeast Asian ovalocytosis MONDO:0000001 Orphanet:98868 Orphanet:377788 disease +MONDO:0008168 ovarian fibroma MONDO:0000001 Orphanet:314473 Orphanet:377788 disease +MONDO:0008177 extramammary Paget disease MONDO:0000001 Orphanet:2800 Orphanet:377788 disease +MONDO:0008179 paroxysmal extreme pain disorder MONDO:0000001 Orphanet:46348 Orphanet:377788 disease +MONDO:0008185 hereditary chronic pancreatitis MONDO:0000001 Orphanet:676 Orphanet:377788 disease +MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0000001 Orphanet:684 Orphanet:377788 disease +MONDO:0008199 late-onset Parkinson disease MONDO:0000001 Orphanet:411602 Orphanet:377788 disease +MONDO:0008201 Perry syndrome MONDO:0000001 Orphanet:178509 Orphanet:377788 disease +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia MONDO:0000001 Orphanet:1179 Orphanet:377788 disease +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0000001 Orphanet:99027 Orphanet:377788 disease +MONDO:0008218 Hailey-Hailey disease MONDO:0000001 Orphanet:2841 Orphanet:377788 disease +MONDO:0008219 pemphigus vulgaris MONDO:0000001 Orphanet:704 Orphanet:377788 disease +MONDO:0008219 pemphigus vulgaris MONDO:0019337 Orphanet:704 Orphanet:79669 autoimmune bullous skin disease +MONDO:0008221 prolidase deficiency MONDO:0000001 Orphanet:742 Orphanet:377788 disease +MONDO:0008222 Andersen-Tawil syndrome MONDO:0000001 Orphanet:37553 Orphanet:377788 disease +MONDO:0008222 Andersen-Tawil syndrome MONDO:0016122 Orphanet:37553 Orphanet:206976 periodic paralysis +MONDO:0008223 hypokalemic periodic paralysis MONDO:0000001 Orphanet:681 Orphanet:377788 disease +MONDO:0008223 hypokalemic periodic paralysis MONDO:0016122 Orphanet:681 Orphanet:206976 periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis MONDO:0000001 Orphanet:682 Orphanet:377788 disease +MONDO:0008224 hyperkalemic periodic paralysis MONDO:0016122 Orphanet:682 Orphanet:206976 periodic paralysis +MONDO:0008244 piebaldism MONDO:0000001 Orphanet:2884 Orphanet:377788 disease +MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO:0000001 Orphanet:251295 Orphanet:377788 disease +MONDO:0008251 familial pityriasis rubra pilaris MONDO:0000001 Orphanet:2897 Orphanet:377788 disease +MONDO:0008251 familial pityriasis rubra pilaris MONDO:0019270 Orphanet:2897 Orphanet:79355 erythrokeratoderma +MONDO:0008259 familial spontaneous pneumothorax MONDO:0000001 Orphanet:2903 Orphanet:377788 disease +MONDO:0008260 Kindler syndrome MONDO:0000001 Orphanet:2908 Orphanet:377788 disease +MONDO:0008261 hereditary sclerosing poikiloderma, Weary type MONDO:0000001 Orphanet:221039 Orphanet:377788 disease +MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0000001 Orphanet:34149 Orphanet:377788 disease +MONDO:0008273 actinic prurigo MONDO:0000001 Orphanet:330061 Orphanet:377788 disease +MONDO:0008275 familial expansile osteolysis MONDO:0000001 Orphanet:85195 Orphanet:377788 disease +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0000001 Orphanet:2869 Orphanet:377788 disease +MONDO:0008283 Cronkhite-Canada syndrome MONDO:0000001 Orphanet:2930 Orphanet:377788 disease +MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0000001 Orphanet:36383 Orphanet:377788 disease +MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0000001 Orphanet:737 Orphanet:377788 disease +MONDO:0008292 punctate palmoplantar keratoderma type 2 MONDO:0000001 Orphanet:79502 Orphanet:377788 disease +MONDO:0008294 acute intermittent porphyria MONDO:0000001 Orphanet:79276 Orphanet:377788 disease +MONDO:0008297 variegate porphyria MONDO:0000001 Orphanet:79473 Orphanet:377788 disease +MONDO:0008300 Prader-Willi syndrome MONDO:0000001 Orphanet:739 Orphanet:377788 disease +MONDO:0008303 familial male-limited precocious puberty MONDO:0000001 Orphanet:3000 Orphanet:377788 disease +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0000001 Orphanet:740 Orphanet:377788 disease +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0015333 Orphanet:740 Orphanet:139033 progeroid syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0019303 Orphanet:740 Orphanet:79389 premature aging syndrome +MONDO:0008322 pseudoachondroplasia MONDO:0000001 Orphanet:750 Orphanet:377788 disease +MONDO:0008323 Liddle syndrome MONDO:0000001 Orphanet:526 Orphanet:377788 disease +MONDO:0008332 platelet-type von Willebrand disease MONDO:0000001 Orphanet:52530 Orphanet:377788 disease +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0017415 Orphanet:65743 Orphanet:294060 multiple pterygium syndrome +MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0000001 Orphanet:91411 Orphanet:377788 disease +MONDO:0008346 pulmonary hemosiderosis MONDO:0000001 Orphanet:99931 Orphanet:377788 disease +MONDO:0008348 pulmonary nodular lymphoid hyperplasia MONDO:0000001 Orphanet:60026 Orphanet:377788 disease +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy MONDO:0000001 Orphanet:64745 Orphanet:377788 disease +MONDO:0008369 proximal renal tubular acidosis MONDO:0000001 Orphanet:47159 Orphanet:377788 disease +MONDO:0008371 Dowling-Degos disease MONDO:0000001 Orphanet:79145 Orphanet:377788 disease +MONDO:0008373 retinal arterial tortuosity MONDO:0000001 Orphanet:75326 Orphanet:377788 disease +MONDO:0008380 retinoblastoma MONDO:0000001 Orphanet:790 Orphanet:377788 disease +MONDO:0008387 ring dermoid of cornea MONDO:0000001 Orphanet:91481 Orphanet:377788 disease +MONDO:0008388 ringed hair disease MONDO:0000001 Orphanet:169 Orphanet:377788 disease +MONDO:0008390 Rombo syndrome MONDO:0000001 Orphanet:3110 Orphanet:377788 disease +MONDO:0008392 Roussy-Levy syndrome MONDO:0000001 Orphanet:3115 Orphanet:377788 disease +MONDO:0008394 Silver-Russell syndrome MONDO:0000001 Orphanet:813 Orphanet:377788 disease +MONDO:0008397 aplasia of lacrimal and salivary glands MONDO:0000001 Orphanet:86815 Orphanet:377788 disease +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0000001 Orphanet:85146 Orphanet:377788 disease +MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0000001 Orphanet:431255 Orphanet:377788 disease +MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0024257 Orphanet:431255 Orphanet:98505 hereditary motor neuron disease +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome MONDO:0000001 Orphanet:384 Orphanet:377788 disease +MONDO:0008429 Singleton-Merten dysplasia MONDO:0700264 Orphanet:85191 Orphanet:477647 type 1 interferonopathy +MONDO:0008433 small cell lung carcinoma MONDO:0000001 Orphanet:70573 Orphanet:377788 disease +MONDO:0008436 Sneddon syndrome MONDO:0000001 Orphanet:820 Orphanet:377788 disease +MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0000001 Orphanet:100984 Orphanet:377788 disease +MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0000001 Orphanet:100985 Orphanet:377788 disease +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome MONDO:0000001 Orphanet:2821 Orphanet:377788 disease +MONDO:0008443 spastic paraplegia-precocious puberty syndrome MONDO:0000001 Orphanet:2826 Orphanet:377788 disease +MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0000001 Orphanet:139518 Orphanet:377788 disease +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO:0000001 Orphanet:209335 Orphanet:377788 disease +MONDO:0008457 spinocerebellar ataxia type 6 MONDO:0000001 Orphanet:98758 Orphanet:377788 disease +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0000001 Orphanet:98756 Orphanet:377788 disease +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome MONDO:0000001 Orphanet:168443 Orphanet:377788 disease +MONDO:0008471 spondyloepiphyseal dysplasia congenita MONDO:0000001 Orphanet:94068 Orphanet:377788 disease +MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type MONDO:0000001 Orphanet:263482 Orphanet:377788 disease +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0000001 Orphanet:93346 Orphanet:377788 disease +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO:0000001 Orphanet:93314 Orphanet:377788 disease +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MONDO:0000001 Orphanet:93316 Orphanet:377788 disease +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0000001 Orphanet:93315 Orphanet:377788 disease +MONDO:0008485 sebocystomatosis MONDO:0000001 Orphanet:841 Orphanet:377788 disease +MONDO:0008491 stiff-person syndrome MONDO:0000001 Orphanet:3198 Orphanet:377788 disease +MONDO:0008492 stiff skin syndrome MONDO:0000001 Orphanet:2833 Orphanet:377788 disease +MONDO:0008493 overhydrated hereditary stomatocytosis MONDO:0000001 Orphanet:3203 Orphanet:377788 disease +MONDO:0008494 cryohydrocytosis MONDO:0000001 Orphanet:398088 Orphanet:377788 disease +MONDO:0008495 platelet storage pool deficiency MONDO:0000001 Orphanet:734 Orphanet:377788 disease +MONDO:0008497 Stormorken syndrome MONDO:0000001 Orphanet:3204 Orphanet:377788 disease +MONDO:0008513 synpolydactyly type 1 MONDO:0021651 Orphanet:295195 Orphanet:93403 synpolydactyly +MONDO:0008523 Blau syndrome MONDO:0000001 Orphanet:90340 Orphanet:377788 disease +MONDO:0008534 generalized essential telangiectasia MONDO:0000001 Orphanet:280774 Orphanet:377788 disease +MONDO:0008538 temporal arteritis MONDO:0000001 Orphanet:397 Orphanet:377788 disease +MONDO:0008557 Paris-Trousseau thrombocytopenia MONDO:0000001 Orphanet:851 Orphanet:377788 disease +MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0000001 Orphanet:3002 Orphanet:377788 disease +MONDO:0008585 HELLP syndrome MONDO:0000001 Orphanet:244242 Orphanet:377788 disease +MONDO:0008587 tracheobronchopathia osteochondroplastica MONDO:0000001 Orphanet:3348 Orphanet:377788 disease +MONDO:0008588 hereditary geniospasm MONDO:0000001 Orphanet:53372 Orphanet:377788 disease +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome MONDO:0000001 Orphanet:3350 Orphanet:377788 disease +MONDO:0008594 familial multiple discoid fibromas MONDO:0000001 Orphanet:538756 Orphanet:377788 disease +MONDO:0008599 trigeminal neuralgia MONDO:0000001 Orphanet:221091 Orphanet:377788 disease +MONDO:0008610 blue color blindness MONDO:0000001 Orphanet:88629 Orphanet:377788 disease +MONDO:0008619 ulna metaphyseal dysplasia syndrome MONDO:0000001 Orphanet:1837 Orphanet:377788 disease +MONDO:0008621 uncombable hair syndrome MONDO:0000001 Orphanet:1410 Orphanet:377788 disease +MONDO:0008633 Muckle-Wells syndrome MONDO:0000001 Orphanet:575 Orphanet:377788 disease +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0000001 Orphanet:247691 Orphanet:377788 disease +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0700264 Orphanet:247691 Orphanet:477647 type 1 interferonopathy +MONDO:0008659 transcobalamin I deficiency MONDO:0000001 Orphanet:2967 Orphanet:377788 disease +MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0000001 Orphanet:89937 Orphanet:377788 disease +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy MONDO:0000001 Orphanet:3086 Orphanet:377788 disease +MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0000001 Orphanet:91496 Orphanet:377788 disease +MONDO:0008667 von Hippel-Lindau disease MONDO:0000001 Orphanet:892 Orphanet:377788 disease +MONDO:0008682 Denys-Drash syndrome MONDO:0000001 Orphanet:220 Orphanet:377788 disease +MONDO:0008686 isolated familial wooly hair disorder MONDO:0000001 Orphanet:170 Orphanet:377788 disease +MONDO:0008688 WT limb-blood syndrome MONDO:0000001 Orphanet:3466 Orphanet:377788 disease +MONDO:0008692 abetalipoproteinemia MONDO:0000001 Orphanet:14 Orphanet:377788 disease +MONDO:0008695 chorea-acanthocytosis MONDO:0000001 Orphanet:2388 Orphanet:377788 disease +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0000001 Orphanet:90301 Orphanet:377788 disease +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency MONDO:0000001 Orphanet:935 Orphanet:377788 disease +MONDO:0008705 lysosomal acid phosphatase deficiency MONDO:0000001 Orphanet:35121 Orphanet:377788 disease +MONDO:0008713 acrodermatitis enteropathica MONDO:0000001 Orphanet:37 Orphanet:377788 disease +MONDO:0008718 Morvan syndrome MONDO:0000001 Orphanet:83467 Orphanet:377788 disease +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency MONDO:0000001 Orphanet:199296 Orphanet:377788 disease +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency MONDO:0019824 Orphanet:199296 Orphanet:95488 non-acquired pituitary hormone deficiency +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:42 Orphanet:377788 disease +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:26792 Orphanet:377788 disease +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:26793 Orphanet:377788 disease +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0000001 Orphanet:90790 Orphanet:377788 disease +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0000001 Orphanet:90791 Orphanet:377788 disease +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0000001 Orphanet:90794 Orphanet:377788 disease +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:0000001 Orphanet:90795 Orphanet:377788 disease +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0000001 Orphanet:90793 Orphanet:377788 disease +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0000001 Orphanet:95700 Orphanet:377788 disease +MONDO:0008733 familial glucocorticoid deficiency MONDO:0000001 Orphanet:361 Orphanet:377788 disease +MONDO:0008737 congenital afibrinogenemia MONDO:0018060 Orphanet:98880 Orphanet:335 congenital fibrinogen deficiency +MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO:0000001 Orphanet:486 Orphanet:377788 disease +MONDO:0008746 oculocutaneous albinism type 2 MONDO:0000001 Orphanet:79432 Orphanet:377788 disease +MONDO:0008747 oculocutaneous albinism type 3 MONDO:0000001 Orphanet:79433 Orphanet:377788 disease +MONDO:0008749 pseudohypoparathyroidism type 2 MONDO:0000001 Orphanet:94090 Orphanet:377788 disease +MONDO:0008752 Alexander disease MONDO:0000001 Orphanet:58 Orphanet:377788 disease +MONDO:0008752 Alexander disease MONDO:0024237 Orphanet:58 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0008753 alkaptonuria MONDO:0000001 Orphanet:56 Orphanet:377788 disease +MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0000001 Orphanet:2850 Orphanet:377788 disease +MONDO:0008757 alopecia universalis congenita MONDO:0000001 Orphanet:701 Orphanet:377788 disease +MONDO:0008757 alopecia universalis congenita MONDO:0004907 Orphanet:701 Orphanet:79364 alopecia +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0000001 Orphanet:726 Orphanet:377788 disease +MONDO:0008759 oxoglutaricaciduria MONDO:0000001 Orphanet:31 Orphanet:377788 disease +MONDO:0008760 beta-ketothiolase deficiency MONDO:0000001 Orphanet:134 Orphanet:377788 disease +MONDO:0008763 Alstrom syndrome MONDO:0000001 Orphanet:64 Orphanet:377788 disease +MONDO:0008766 amaurosis-hypertrichosis syndrome MONDO:0000001 Orphanet:1021 Orphanet:377788 disease +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0000001 Orphanet:228346 Orphanet:377788 disease +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0016295 Orphanet:228346 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0000001 Orphanet:228349 Orphanet:377788 disease +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0016295 Orphanet:228349 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria MONDO:0000001 Orphanet:79154 Orphanet:377788 disease +MONDO:0008777 gelatinous drop-like corneal dystrophy MONDO:0000001 Orphanet:98957 Orphanet:377788 disease +MONDO:0008783 Tangier disease MONDO:0000001 Orphanet:31150 Orphanet:377788 disease +MONDO:0008787 microcytic anemia with liver iron overload MONDO:0000001 Orphanet:83642 Orphanet:377788 disease +MONDO:0008788 IRIDA syndrome MONDO:0000001 Orphanet:209981 Orphanet:377788 disease +MONDO:0008792 familial angiolipomatosis MONDO:0000001 Orphanet:199279 Orphanet:377788 disease +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0000001 Orphanet:1116 Orphanet:377788 disease +MONDO:0008814 hyperargininemia MONDO:0000001 Orphanet:90 Orphanet:377788 disease +MONDO:0008814 hyperargininemia MONDO:0004739 Orphanet:90 Orphanet:79167 urea cycle disorder +MONDO:0008815 argininosuccinic aciduria MONDO:0000001 Orphanet:23 Orphanet:377788 disease +MONDO:0008815 argininosuccinic aciduria MONDO:0004739 Orphanet:23 Orphanet:79167 urea cycle disorder +MONDO:0008818 arterial tortuosity syndrome MONDO:0016175 Orphanet:3342 Orphanet:209 cutis laxa +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type MONDO:0000001 Orphanet:1143 Orphanet:377788 disease +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood MONDO:0000001 Orphanet:1159 Orphanet:377788 disease +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:0000001 Orphanet:2848 Orphanet:377788 disease +MONDO:0008829 chylous ascites MONDO:0000001 Orphanet:1160 Orphanet:377788 disease +MONDO:0008830 aspartylglucosaminuria MONDO:0000001 Orphanet:93 Orphanet:377788 disease +MONDO:0008840 ataxia telangiectasia MONDO:0000001 Orphanet:100 Orphanet:377788 disease +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0000001 Orphanet:1168 Orphanet:377788 disease +MONDO:0008846 atransferrinemia MONDO:0000001 Orphanet:1195 Orphanet:377788 disease +MONDO:0008847 atrichia with papular lesions MONDO:0000001 Orphanet:86819 Orphanet:377788 disease +MONDO:0008849 atrophoderma vermiculata MONDO:0000001 Orphanet:79100 Orphanet:377788 disease +MONDO:0008853 Barber-Say syndrome MONDO:0019280 Orphanet:1231 Orphanet:79365 hypertrichosis +MONDO:0008855 MHC class II deficiency MONDO:0000001 Orphanet:572 Orphanet:377788 disease +MONDO:0008863 sitosterolemia MONDO:0000001 Orphanet:2882 Orphanet:377788 disease +MONDO:0008864 Biemond syndrome type 2 MONDO:0000001 Orphanet:141333 Orphanet:377788 disease +MONDO:0008865 Bietti crystalline corneoretinal dystrophy MONDO:0000001 Orphanet:41751 Orphanet:377788 disease +MONDO:0008876 Bloom syndrome MONDO:0000001 Orphanet:125 Orphanet:377788 disease +MONDO:0008877 blue diaper syndrome MONDO:0000001 Orphanet:94086 Orphanet:377788 disease +MONDO:0008889 thromboangiitis obliterans MONDO:0000001 Orphanet:36258 Orphanet:377788 disease +MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0000001 Orphanet:289601 Orphanet:377788 disease +MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0000001 Orphanet:79318 Orphanet:377788 disease +MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0000001 Orphanet:79329 Orphanet:377788 disease +MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0000001 Orphanet:159 Orphanet:377788 disease +MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0000001 Orphanet:158 Orphanet:377788 disease +MONDO:0008921 carnosinemia MONDO:0019232 Orphanet:1361 Orphanet:79187 inborn disorder of peptide metabolism +MONDO:0008922 Sengers syndrome MONDO:0000001 Orphanet:1369 Orphanet:377788 disease +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0000001 Orphanet:1366 Orphanet:377788 disease +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO:0000001 Orphanet:435930 Orphanet:377788 disease +MONDO:0008928 cataract-ataxia-deafness syndrome MONDO:0000001 Orphanet:1368 Orphanet:377788 disease +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO:0000001 Orphanet:1173 Orphanet:377788 disease +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes MONDO:0000001 Orphanet:1177 Orphanet:377788 disease +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0000001 Orphanet:1170 Orphanet:377788 disease +MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0000001 Orphanet:1980 Orphanet:377788 disease +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0000001 Orphanet:909 Orphanet:377788 disease +MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0000001 Orphanet:99948 Orphanet:377788 disease +MONDO:0008963 Chediak-Higashi syndrome MONDO:0000001 Orphanet:167 Orphanet:377788 disease +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0000001 Orphanet:53689 Orphanet:377788 disease +MONDO:0008966 Aagenaes syndrome MONDO:0000001 Orphanet:1414 Orphanet:377788 disease +MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0000001 Orphanet:79095 Orphanet:377788 disease +MONDO:0008974 Greenberg dysplasia MONDO:0000001 Orphanet:1426 Orphanet:377788 disease +MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0000001 Orphanet:1427 Orphanet:377788 disease +MONDO:0008977 chondrosarcoma MONDO:0000001 Orphanet:55880 Orphanet:377788 disease +MONDO:0008978 chordoma MONDO:0000001 Orphanet:178 Orphanet:377788 disease +MONDO:0008978 chordoma MONDO:0019060 Orphanet:178 Orphanet:68411 bone neoplasm +MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0000001 Orphanet:1180 Orphanet:377788 disease +MONDO:0008981 infantile choroidocerebral calcification syndrome MONDO:0000001 Orphanet:1313 Orphanet:377788 disease +MONDO:0008982 central areolar choroidal dystrophy MONDO:0000001 Orphanet:75377 Orphanet:377788 disease +MONDO:0008988 citrullinemia type I MONDO:0000001 Orphanet:247525 Orphanet:377788 disease +MONDO:0009000 familial reactive perforating collagenosis MONDO:0000001 Orphanet:79147 Orphanet:377788 disease +MONDO:0009009 hypoplasminogenemia MONDO:0000001 Orphanet:722 Orphanet:377788 disease +MONDO:0009018 central cloudy dystrophy of François MONDO:0000001 Orphanet:98972 Orphanet:377788 disease +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea MONDO:0000001 Orphanet:293603 Orphanet:377788 disease +MONDO:0009020 macular corneal dystrophy MONDO:0000001 Orphanet:98969 Orphanet:377788 disease +MONDO:0009025 apparent mineralocorticoid excess MONDO:0000001 Orphanet:320 Orphanet:377788 disease +MONDO:0009044 Crigler-Najjar syndrome MONDO:0000001 Orphanet:205 Orphanet:377788 disease +MONDO:0009044 Crigler-Najjar syndrome MONDO:0017755 Orphanet:205 Orphanet:309816 inborn disorder of bilirubin metabolism +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0000001 Orphanet:189427 Orphanet:377788 disease +MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:0000001 Orphanet:96253 Orphanet:377788 disease +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome MONDO:0000001 Orphanet:2881 Orphanet:377788 disease +MONDO:0009058 cystathioninuria MONDO:0000001 Orphanet:212 Orphanet:377788 disease +MONDO:0009061 cystic fibrosis MONDO:0000001 Orphanet:586 Orphanet:377788 disease +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:0000001 Orphanet:2575 Orphanet:377788 disease +MONDO:0009063 ventriculomegaly-cystic kidney disease MONDO:0000001 Orphanet:443988 Orphanet:377788 disease +MONDO:0009066 juvenile nephropathic cystinosis MONDO:0016239 Orphanet:411634 Orphanet:213 cystinosis +MONDO:0009067 cystinuria MONDO:0000001 Orphanet:214 Orphanet:377788 disease +MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0000001 Orphanet:254905 Orphanet:377788 disease +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0000001 Orphanet:70472 Orphanet:377788 disease +MONDO:0009070 D-glyceric aciduria MONDO:0000001 Orphanet:941 Orphanet:377788 disease +MONDO:0009082 high myopia-sensorineural deafness syndrome MONDO:0000001 Orphanet:363396 Orphanet:377788 disease +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome MONDO:0000001 Orphanet:3217 Orphanet:377788 disease +MONDO:0009093 dermatoleukodystrophy MONDO:0000001 Orphanet:1659 Orphanet:377788 disease +MONDO:0009094 dermochondrocorneal dystrophy MONDO:0000001 Orphanet:79149 Orphanet:377788 disease +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0000001 Orphanet:3145 Orphanet:377788 disease +MONDO:0009105 trichohepatoenteric syndrome MONDO:0000001 Orphanet:84064 Orphanet:377788 disease +MONDO:0009105 trichohepatoenteric syndrome MONDO:0700264 Orphanet:84064 Orphanet:477647 type 1 interferonopathy +MONDO:0009107 diastrophic dysplasia MONDO:0000001 Orphanet:628 Orphanet:377788 disease +MONDO:0009109 lysinuric protein intolerance MONDO:0000001 Orphanet:470 Orphanet:377788 disease +MONDO:0009110 dicarboxylic aminoaciduria MONDO:0000001 Orphanet:2195 Orphanet:377788 disease +MONDO:0009111 dihydropyrimidinuria MONDO:0000001 Orphanet:38874 Orphanet:377788 disease +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0000001 Orphanet:714 Orphanet:377788 disease +MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0000001 Orphanet:35122 Orphanet:377788 disease +MONDO:0009115 congenital lactase deficiency MONDO:0000001 Orphanet:53690 Orphanet:377788 disease +MONDO:0009123 orthostatic hypotension 1 MONDO:0000001 Orphanet:230 Orphanet:377788 disease +MONDO:0009123 orthostatic hypotension 1 MONDO:0015914 Orphanet:230 Orphanet:182058 primary orthostatic hypotension +MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0000001 Orphanet:239 Orphanet:377788 disease +MONDO:0009131 Riley-Day syndrome MONDO:0000001 Orphanet:1764 Orphanet:377788 disease +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0000001 Orphanet:1766 Orphanet:377788 disease +MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0000001 Orphanet:98873 Orphanet:377788 disease +MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type MONDO:0000001 Orphanet:156731 Orphanet:377788 disease +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0000001 Orphanet:1865 Orphanet:377788 disease +MONDO:0009141 torsion dystonia 2 MONDO:0000001 Orphanet:99657 Orphanet:377788 disease +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0000001 Orphanet:50944 Orphanet:377788 disease +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0019287 Orphanet:50944 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO:0000001 Orphanet:230851 Orphanet:377788 disease +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0000001 Orphanet:1901 Orphanet:377788 disease +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0015461 Orphanet:289 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0009169 endocardial fibroelastosis MONDO:0000001 Orphanet:2022 Orphanet:377788 disease +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency MONDO:0000001 Orphanet:168601 Orphanet:377788 disease +MONDO:0009174 protein-losing enteropathy MONDO:0000001 Orphanet:566175 Orphanet:377788 disease +MONDO:0009175 eosinophilic fasciitis MONDO:0000001 Orphanet:3165 Orphanet:377788 disease +MONDO:0009176 epidermodysplasia verruciformis MONDO:0000001 Orphanet:302 Orphanet:377788 disease +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0000001 Orphanet:231556 Orphanet:377788 disease +MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:0000001 Orphanet:79408 Orphanet:377788 disease +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0000001 Orphanet:257 Orphanet:377788 disease +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0016106 Orphanet:257 Orphanet:206644 progressive muscular dystrophy +MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:0000001 Orphanet:79404 Orphanet:377788 disease +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:0000001 Orphanet:79403 Orphanet:377788 disease +MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome MONDO:0000001 Orphanet:1459 Orphanet:377788 disease +MONDO:0009188 epilepsy-telangiectasia syndrome MONDO:0000001 Orphanet:1951 Orphanet:377788 disease +MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0000001 Orphanet:93307 Orphanet:377788 disease +MONDO:0009191 Lowry-Wood syndrome MONDO:0000001 Orphanet:1824 Orphanet:377788 disease +MONDO:0009192 Wolcott-Rallison syndrome MONDO:0000001 Orphanet:1667 Orphanet:377788 disease +MONDO:0009194 immunodeficiency 32B MONDO:0000001 Orphanet:2566 Orphanet:377788 disease +MONDO:0009197 transient erythroblastopenia of childhood MONDO:0000001 Orphanet:98871 Orphanet:377788 disease +MONDO:0009198 congenital lethal erythroderma MONDO:0000001 Orphanet:1954 Orphanet:377788 disease +MONDO:0009210 congenital factor V deficiency MONDO:0000001 Orphanet:326 Orphanet:377788 disease +MONDO:0009211 congenital factor VII deficiency MONDO:0000001 Orphanet:327 Orphanet:377788 disease +MONDO:0009212 congenital factor X deficiency MONDO:0000001 Orphanet:328 Orphanet:377788 disease +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0000001 Orphanet:2088 Orphanet:377788 disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0000001 Orphanet:333 Orphanet:377788 disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0019255 Orphanet:333 Orphanet:79225 sphingolipidosis +MONDO:0009229 hyaline fibromatosis syndrome MONDO:0000001 Orphanet:498474 Orphanet:377788 disease +MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0000001 Orphanet:483 Orphanet:377788 disease +MONDO:0009235 familial benign flecked retina MONDO:0000001 Orphanet:363989 Orphanet:377788 disease +MONDO:0009238 hereditary folate malabsorption MONDO:0000001 Orphanet:90045 Orphanet:377788 disease +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0000001 Orphanet:52901 Orphanet:377788 disease +MONDO:0009240 formiminoglutamic aciduria MONDO:0000001 Orphanet:51208 Orphanet:377788 disease +MONDO:0009242 brittle cornea syndrome MONDO:0000001 Orphanet:90354 Orphanet:377788 disease +MONDO:0009249 hereditary fructose intolerance MONDO:0000001 Orphanet:469 Orphanet:377788 disease +MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:0000001 Orphanet:348 Orphanet:377788 disease +MONDO:0009252 essential fructosuria MONDO:0000001 Orphanet:2056 Orphanet:377788 disease +MONDO:0009254 fucosidosis MONDO:0000001 Orphanet:349 Orphanet:377788 disease +MONDO:0009255 galactokinase deficiency MONDO:0000001 Orphanet:79237 Orphanet:377788 disease +MONDO:0009257 galactose epimerase deficiency MONDO:0000001 Orphanet:79238 Orphanet:377788 disease +MONDO:0009258 classic galactosemia MONDO:0000001 Orphanet:79239 Orphanet:377788 disease +MONDO:0009259 gamma-glutamylcysteine synthetase deficiency MONDO:0000001 Orphanet:33574 Orphanet:377788 disease +MONDO:0009259 gamma-glutamylcysteine synthetase deficiency MONDO:0019241 Orphanet:33574 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0009271 geroderma osteodysplastica MONDO:0016175 Orphanet:2078 Orphanet:209 cutis laxa +MONDO:0009275 neonatal hemochromatosis MONDO:0000001 Orphanet:446 Orphanet:377788 disease +MONDO:0009275 neonatal hemochromatosis MONDO:0017763 Orphanet:446 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0009276 Bernard-Soulier syndrome MONDO:0000001 Orphanet:274 Orphanet:377788 disease +MONDO:0009277 glaucoma 3A MONDO:0000001 Orphanet:98976 Orphanet:377788 disease +MONDO:0009279 triple-A syndrome MONDO:0000001 Orphanet:869 Orphanet:377788 disease +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:25 Orphanet:377788 disease +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:26791 Orphanet:377788 disease +MONDO:0009283 glutaric acidemia type 3 MONDO:0000001 Orphanet:35706 Orphanet:377788 disease +MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO:0000001 Orphanet:33573 Orphanet:377788 disease +MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO:0019241 Orphanet:33573 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0009288 glycogen storage disease Ib MONDO:0002413 Orphanet:79259 Orphanet:364 glycogen storage disease I +MONDO:0009290 glycogen storage disease II MONDO:0000001 Orphanet:365 Orphanet:377788 disease +MONDO:0009291 glycogen storage disease III MONDO:0000001 Orphanet:366 Orphanet:377788 disease +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0000001 Orphanet:367 Orphanet:377788 disease +MONDO:0009293 glycogen storage disease V MONDO:0000001 Orphanet:368 Orphanet:377788 disease +MONDO:0009294 glycogen storage disease VI MONDO:0000001 Orphanet:369 Orphanet:377788 disease +MONDO:0009295 glycogen storage disease VII MONDO:0000001 Orphanet:371 Orphanet:377788 disease +MONDO:0009297 familial renal glucosuria MONDO:0000001 Orphanet:69076 Orphanet:377788 disease +MONDO:0009303 anti-glomerular basement membrane disease MONDO:0000001 Orphanet:375 Orphanet:377788 disease +MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0000001 Orphanet:157949 Orphanet:377788 disease +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency MONDO:0000001 Orphanet:1979 Orphanet:377788 disease +MONDO:0009315 congenital factor XII deficiency MONDO:0000001 Orphanet:330 Orphanet:377788 disease +MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0000001 Orphanet:157850 Orphanet:377788 disease +MONDO:0009324 Hartnup disease MONDO:0000001 Orphanet:2116 Orphanet:377788 disease +MONDO:0009326 congenital heart block MONDO:0000001 Orphanet:60041 Orphanet:377788 disease +MONDO:0009329 pulmonary venoocclusive disease 2 MONDO:0000001 Orphanet:199241 Orphanet:377788 disease +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0000001 Orphanet:79124 Orphanet:377788 disease +MONDO:0009339 congenital bile acid synthesis defect 2 MONDO:0000001 Orphanet:79303 Orphanet:377788 disease +MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency MONDO:0000001 Orphanet:90031 Orphanet:377788 disease +MONDO:0009345 histidinemia MONDO:0000001 Orphanet:2157 Orphanet:377788 disease +MONDO:0009346 histidinuria due to a renal tubular defect MONDO:0000001 Orphanet:2158 Orphanet:377788 disease +MONDO:0009346 histidinuria due to a renal tubular defect MONDO:0019228 Orphanet:2158 Orphanet:79181 inborn disorder of histidine metabolism +MONDO:0009348 classic Hodgkin lymphoma MONDO:0000001 Orphanet:391 Orphanet:377788 disease +MONDO:0009352 classic homocystinuria MONDO:0000001 Orphanet:394 Orphanet:377788 disease +MONDO:0009352 classic homocystinuria MONDO:0019222 Orphanet:394 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0000001 Orphanet:395 Orphanet:377788 disease +MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:79314 Orphanet:377788 disease +MONDO:0009371 3-hydroxyisobutyric aciduria MONDO:0000001 Orphanet:939 Orphanet:377788 disease +MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0000001 Orphanet:79155 Orphanet:377788 disease +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0000001 Orphanet:79156 Orphanet:377788 disease +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:0000001 Orphanet:147 Orphanet:377788 disease +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:0004739 Orphanet:147 Orphanet:79167 urea cycle disorder +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0000001 Orphanet:927 Orphanet:377788 disease +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0004739 Orphanet:927 Orphanet:79167 urea cycle disorder +MONDO:0009378 hyper-beta-alaninemia MONDO:0000001 Orphanet:309147 Orphanet:377788 disease +MONDO:0009379 Rotor syndrome MONDO:0000001 Orphanet:3111 Orphanet:377788 disease +MONDO:0009379 Rotor syndrome MONDO:0017755 Orphanet:3111 Orphanet:309816 inborn disorder of bilirubin metabolism +MONDO:0009380 Dubin-Johnson syndrome MONDO:0000001 Orphanet:234 Orphanet:377788 disease +MONDO:0009380 Dubin-Johnson syndrome MONDO:0017755 Orphanet:234 Orphanet:309816 inborn disorder of bilirubin metabolism +MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0000001 Orphanet:2312 Orphanet:377788 disease +MONDO:0009388 hyperlysinemia MONDO:0000001 Orphanet:2203 Orphanet:377788 disease +MONDO:0009393 ornithine translocase deficiency MONDO:0000001 Orphanet:415 Orphanet:377788 disease +MONDO:0009393 ornithine translocase deficiency MONDO:0004739 Orphanet:415 Orphanet:79167 urea cycle disorder +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0000001 Orphanet:417 Orphanet:377788 disease +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0016166 Orphanet:417 Orphanet:208596 hereditary hyperparathyroidism +MONDO:0009400 hyperprolinemia type 1 MONDO:0000001 Orphanet:419 Orphanet:377788 disease +MONDO:0009400 hyperprolinemia type 1 MONDO:0017355 Orphanet:419 Orphanet:289866 inborn disorder of proline metabolism +MONDO:0009401 hyperprolinemia type 2 MONDO:0000001 Orphanet:79101 Orphanet:377788 disease +MONDO:0009401 hyperprolinemia type 2 MONDO:0017355 Orphanet:79101 Orphanet:289866 inborn disorder of proline metabolism +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome MONDO:0000001 Orphanet:2218 Orphanet:377788 disease +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0000001 Orphanet:3453 Orphanet:377788 disease +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0000001 Orphanet:2089 Orphanet:377788 disease +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0000001 Orphanet:293964 Orphanet:377788 disease +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0000001 Orphanet:3464 Orphanet:377788 disease +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome MONDO:0000001 Orphanet:2232 Orphanet:377788 disease +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria MONDO:0000001 Orphanet:157215 Orphanet:377788 disease +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0000001 Orphanet:457 Orphanet:377788 disease +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0017265 Orphanet:457 Orphanet:281097 autosomal recessive congenital ichthyosis +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0000001 Orphanet:2269 Orphanet:377788 disease +MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome MONDO:0000001 Orphanet:2274 Orphanet:377788 disease +MONDO:0009448 iminoglycinuria MONDO:0000001 Orphanet:42062 Orphanet:377788 disease +MONDO:0009451 Nezelof syndrome MONDO:0000001 Orphanet:83471 Orphanet:377788 disease +MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0000001 Orphanet:1830 Orphanet:377788 disease +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive MONDO:0000001 Orphanet:88642 Orphanet:377788 disease +MONDO:0009468 pseudotumor cerebri MONDO:0000001 Orphanet:238624 Orphanet:377788 disease +MONDO:0009475 isovaleric acidemia MONDO:0000001 Orphanet:33 Orphanet:377788 disease +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0000001 Orphanet:217390 Orphanet:377788 disease +MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type MONDO:0000001 Orphanet:86923 Orphanet:377788 disease +MONDO:0009490 Papillon-Lefevre disease MONDO:0000001 Orphanet:678 Orphanet:377788 disease +MONDO:0009490 Papillon-Lefevre disease MONDO:0019287 Orphanet:678 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009491 Haim-Munk syndrome MONDO:0000001 Orphanet:2342 Orphanet:377788 disease +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0000001 Orphanet:832 Orphanet:377788 disease +MONDO:0009499 Krabbe disease MONDO:0000001 Orphanet:487 Orphanet:377788 disease +MONDO:0009499 Krabbe disease MONDO:0024237 Orphanet:487 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0009501 metabolic myopathy due to lactate transporter defect MONDO:0000001 Orphanet:171690 Orphanet:377788 disease +MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0000001 Orphanet:17 Orphanet:377788 disease +MONDO:0009506 specific granule deficiency MONDO:0000001 Orphanet:169142 Orphanet:377788 disease +MONDO:0009509 Landau-Kleffner syndrome MONDO:0000001 Orphanet:98818 Orphanet:377788 disease +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0000001 Orphanet:2407 Orphanet:377788 disease +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0000001 Orphanet:20 Orphanet:377788 disease +MONDO:0009523 Lichtenstein syndrome MONDO:0000001 Orphanet:2390 Orphanet:377788 disease +MONDO:0009528 chylomicron retention disease MONDO:0000001 Orphanet:71 Orphanet:377788 disease +MONDO:0009537 lymphoid interstitial pneumonia MONDO:0000001 Orphanet:79128 Orphanet:377788 disease +MONDO:0009549 severe early-childhood-onset retinal dystrophy MONDO:0000001 Orphanet:364055 Orphanet:377788 disease +MONDO:0009552 mal de Meleda MONDO:0000001 Orphanet:87503 Orphanet:377788 disease +MONDO:0009556 malonic aciduria MONDO:0000001 Orphanet:943 Orphanet:377788 disease +MONDO:0009561 alpha-mannosidosis MONDO:0000001 Orphanet:61 Orphanet:377788 disease +MONDO:0009562 beta-mannosidosis MONDO:0000001 Orphanet:118 Orphanet:377788 disease +MONDO:0009563 maple syrup urine disease MONDO:0000001 Orphanet:511 Orphanet:377788 disease +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0000001 Orphanet:559 Orphanet:377788 disease +MONDO:0009568 mast syndrome MONDO:0000001 Orphanet:101001 Orphanet:377788 disease +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0000001 Orphanet:49827 Orphanet:377788 disease +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0017578 Orphanet:49827 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0009578 neurocutaneous melanocytosis MONDO:0000001 Orphanet:2481 Orphanet:377788 disease +MONDO:0009579 Frank-Ter Haar syndrome MONDO:0000001 Orphanet:137834 Orphanet:377788 disease +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type MONDO:0017393 Orphanet:2728 Orphanet:293642 blepharophimosis - intellectual disability syndrome +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:0019694 Orphanet:93317 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type MONDO:0000001 Orphanet:166038 Orphanet:377788 disease +MONDO:0009595 cartilage-hair hypoplasia MONDO:0000001 Orphanet:175 Orphanet:377788 disease +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type MONDO:0000001 Orphanet:2501 Orphanet:377788 disease +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0000001 Orphanet:88639 Orphanet:377788 disease +MONDO:0009607 methionine adenosyltransferase deficiency MONDO:0000001 Orphanet:168598 Orphanet:377788 disease +MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0000001 Orphanet:67046 Orphanet:377788 disease +MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0000001 Orphanet:67048 Orphanet:377788 disease +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0000001 Orphanet:27 Orphanet:377788 disease +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0000001 Orphanet:308425 Orphanet:377788 disease +MONDO:0009635 microvillus inclusion disease MONDO:0000001 Orphanet:2290 Orphanet:377788 disease +MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0000001 Orphanet:279934 Orphanet:377788 disease +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome MONDO:0000001 Orphanet:2400 Orphanet:377788 disease +MONDO:0009650 mucolipidosis type II MONDO:0000001 Orphanet:576 Orphanet:377788 disease +MONDO:0009650 mucolipidosis type II MONDO:0019248 Orphanet:576 Orphanet:79212 mucolipidosis +MONDO:0009653 mucolipidosis type IV MONDO:0000001 Orphanet:578 Orphanet:377788 disease +MONDO:0009653 mucolipidosis type IV MONDO:0019248 Orphanet:578 Orphanet:79212 mucolipidosis +MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0000001 Orphanet:583 Orphanet:377788 disease +MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0000001 Orphanet:584 Orphanet:377788 disease +MONDO:0009665 biotinidase deficiency MONDO:0000001 Orphanet:79241 Orphanet:377788 disease +MONDO:0009666 holocarboxylase synthetase deficiency MONDO:0000001 Orphanet:79242 Orphanet:377788 disease +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome MONDO:0000001 Orphanet:3068 Orphanet:377788 disease +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0000001 Orphanet:267 Orphanet:377788 disease +MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:0000001 Orphanet:268 Orphanet:377788 disease +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0000001 Orphanet:353 Orphanet:377788 disease +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome MONDO:0000001 Orphanet:1875 Orphanet:377788 disease +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0000001 Orphanet:1878 Orphanet:377788 disease +MONDO:0009685 Miyoshi myopathy MONDO:0000001 Orphanet:45448 Orphanet:377788 disease +MONDO:0009688 myasthenia gravis MONDO:0000001 Orphanet:589 Orphanet:377788 disease +MONDO:0009691 mycosis fungoides MONDO:0000001 Orphanet:2584 Orphanet:377788 disease +MONDO:0009692 primary myelofibrosis MONDO:0000001 Orphanet:824 Orphanet:377788 disease +MONDO:0009693 plasma cell myeloma MONDO:0000001 Orphanet:29073 Orphanet:377788 disease +MONDO:0009694 myeloperoxidase deficiency MONDO:0000001 Orphanet:2587 Orphanet:377788 disease +MONDO:0009696 juvenile myoclonic epilepsy MONDO:0000001 Orphanet:307 Orphanet:377788 disease +MONDO:0009697 Lafora disease MONDO:0000001 Orphanet:501 Orphanet:377788 disease +MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0000001 Orphanet:308 Orphanet:377788 disease +MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0000001 Orphanet:163696 Orphanet:377788 disease +MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0015650 Orphanet:163696 Orphanet:166463 epilepsy syndrome +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0000001 Orphanet:156 Orphanet:377788 disease +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:0000001 Orphanet:43115 Orphanet:377788 disease +MONDO:0009710 Thomsen and Becker disease MONDO:0000001 Orphanet:614 Orphanet:377788 disease +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0000001 Orphanet:2020 Orphanet:377788 disease +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0017303 Orphanet:2020 Orphanet:284790 qualitative or quantitative defects of tropomyosin +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0019952 Orphanet:2020 Orphanet:97245 congenital myopathy +MONDO:0009714 myosclerosis MONDO:0000001 Orphanet:289380 Orphanet:377788 disease +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0000001 Orphanet:800 Orphanet:377788 disease +MONDO:0009719 familial atrial myxoma MONDO:0000001 Orphanet:615 Orphanet:377788 disease +MONDO:0009723 Leigh syndrome MONDO:0000001 Orphanet:506 Orphanet:377788 disease +MONDO:0009724 nail-patella-like renal disease MONDO:0000001 Orphanet:2613 Orphanet:377788 disease +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0000001 Orphanet:324977 Orphanet:377788 disease +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0700264 Orphanet:324977 Orphanet:477647 type 1 interferonopathy +MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:0000001 Orphanet:839 Orphanet:377788 disease +MONDO:0009735 Netherton syndrome MONDO:0000001 Orphanet:634 Orphanet:377788 disease +MONDO:0009737 galactosialidosis MONDO:0000001 Orphanet:351 Orphanet:377788 disease +MONDO:0009738 sialidosis type 2 MONDO:0000001 Orphanet:87876 Orphanet:377788 disease +MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0000001 Orphanet:228329 Orphanet:377788 disease +MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0000001 Orphanet:228360 Orphanet:377788 disease +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0000001 Orphanet:642 Orphanet:377788 disease +MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0000001 Orphanet:255229 Orphanet:377788 disease +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:0000001 Orphanet:139578 Orphanet:377788 disease +MONDO:0009749 giant axonal neuropathy 1 MONDO:0000001 Orphanet:643 Orphanet:377788 disease +MONDO:0009749 giant axonal neuropathy 1 MONDO:0020127 Orphanet:643 Orphanet:98497 hereditary peripheral neuropathy +MONDO:0009756 Niemann-Pick disease type A MONDO:0000001 Orphanet:77292 Orphanet:377788 disease +MONDO:0009764 ocular motor apraxia, Cogan type MONDO:0000001 Orphanet:1125 Orphanet:377788 disease +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0000001 Orphanet:2721 Orphanet:377788 disease +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0019287 Orphanet:2721 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009785 opsismodysplasia MONDO:0000001 Orphanet:2746 Orphanet:377788 disease +MONDO:0009785 opsismodysplasia MONDO:0019694 Orphanet:2746 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0000001 Orphanet:67047 Orphanet:377788 disease +MONDO:0009796 ornithine aminotransferase deficiency MONDO:0000001 Orphanet:414 Orphanet:377788 disease +MONDO:0009797 orotic aciduria MONDO:0000001 Orphanet:30 Orphanet:377788 disease +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 Orphanet:216812 Orphanet:666 osteogenesis imperfecta +MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0000001 Orphanet:324964 Orphanet:377788 disease +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0000001 Orphanet:2785 Orphanet:377788 disease +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0017198 Orphanet:2785 Orphanet:2781 osteopetrosis +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0000001 Orphanet:2788 Orphanet:377788 disease +MONDO:0009825 5-oxoprolinase deficiency MONDO:0000001 Orphanet:33572 Orphanet:377788 disease +MONDO:0009825 5-oxoprolinase deficiency MONDO:0019241 Orphanet:33572 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0000001 Orphanet:171695 Orphanet:377788 disease +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0000001 Orphanet:811 Orphanet:377788 disease +MONDO:0009835 subacute sclerosing panencephalitis MONDO:0000001 Orphanet:2806 Orphanet:377788 disease +MONDO:0009837 choroid plexus papilloma MONDO:0000001 Orphanet:2807 Orphanet:377788 disease +MONDO:0009837 choroid plexus papilloma MONDO:0016717 Orphanet:2807 Orphanet:251896 choroid plexus neoplasm +MONDO:0009838 Parana hard-skin syndrome MONDO:0000001 Orphanet:2812 Orphanet:377788 disease +MONDO:0009841 PEHO syndrome MONDO:0000001 Orphanet:2836 Orphanet:377788 disease +MONDO:0009846 pentosuria MONDO:0000001 Orphanet:2843 Orphanet:377788 disease +MONDO:0009846 pentosuria MONDO:0018605 Orphanet:2843 Orphanet:440701 disorders of pentose/polyol metabolism +MONDO:0009848 dissecting cellulitis of the scalp MONDO:0000001 Orphanet:345 Orphanet:377788 disease +MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0000001 Orphanet:332 Orphanet:377788 disease +MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0000001 Orphanet:35858 Orphanet:377788 disease +MONDO:0009855 d-bifunctional protein deficiency MONDO:0000001 Orphanet:300 Orphanet:377788 disease +MONDO:0009861 phenylketonuria MONDO:0000001 Orphanet:716 Orphanet:377788 disease +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0000001 Orphanet:97234 Orphanet:377788 disease +MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0000001 Orphanet:439854 Orphanet:377788 disease +MONDO:0009868 glycogen storage disease IXb MONDO:0000001 Orphanet:79240 Orphanet:377788 disease +MONDO:0009870 pili torti MONDO:0000001 Orphanet:2889 Orphanet:377788 disease +MONDO:0009872 Bjornstad syndrome MONDO:0000001 Orphanet:123 Orphanet:377788 disease +MONDO:0009877 Laron syndrome MONDO:0000001 Orphanet:633 Orphanet:377788 disease +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0000001 Orphanet:85442 Orphanet:377788 disease +MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:0000001 Orphanet:79 Orphanet:377788 disease +MONDO:0009885 Scott syndrome MONDO:0000001 Orphanet:806 Orphanet:377788 disease +MONDO:0009887 desquamative interstitial pneumonia MONDO:0000001 Orphanet:98852 Orphanet:377788 disease +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0000001 Orphanet:731 Orphanet:377788 disease +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0019741 Orphanet:731 Orphanet:93587 familial cystic renal disease +MONDO:0009891 acquired polycythemia vera MONDO:0000001 Orphanet:729 Orphanet:377788 disease +MONDO:0009891 acquired polycythemia vera MONDO:0020076 Orphanet:729 Orphanet:98274 myeloproliferative neoplasm +MONDO:0009892 Chuvash polycythemia MONDO:0000001 Orphanet:238557 Orphanet:377788 disease +MONDO:0009902 cutaneous porphyria MONDO:0000001 Orphanet:79277 Orphanet:377788 disease +MONDO:0009904 Gitelman syndrome MONDO:0000001 Orphanet:358 Orphanet:377788 disease +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0015333 Orphanet:3455 Orphanet:139033 progeroid syndrome +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0019303 Orphanet:3455 Orphanet:79389 premature aging syndrome +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0000001 Orphanet:752 Orphanet:377788 disease +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0000001 Orphanet:2971 Orphanet:377788 disease +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0000001 Orphanet:753 Orphanet:377788 disease +MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO:0000001 Orphanet:289157 Orphanet:377788 disease +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0000001 Orphanet:758 Orphanet:377788 disease +MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0000001 Orphanet:60025 Orphanet:377788 disease +MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 MONDO:0000001 Orphanet:217563 Orphanet:377788 disease +MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0000001 Orphanet:2414 Orphanet:377788 disease +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0000001 Orphanet:210122 Orphanet:377788 disease +MONDO:0009937 pulmonary venoocclusive disease MONDO:0000001 Orphanet:31837 Orphanet:377788 disease +MONDO:0009940 pycnodysostosis MONDO:0000001 Orphanet:763 Orphanet:377788 disease +MONDO:0009943 Pyle disease MONDO:0000001 Orphanet:3005 Orphanet:377788 disease +MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0000001 Orphanet:3006 Orphanet:377788 disease +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO:0000001 Orphanet:35120 Orphanet:377788 disease +MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0000001 Orphanet:3008 Orphanet:377788 disease +MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0000001 Orphanet:766 Orphanet:377788 disease +MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0016789 Orphanet:766 Orphanet:254746 pyruvate metabolism disorder +MONDO:0009958 adult Refsum disease MONDO:0000001 Orphanet:773 Orphanet:377788 disease +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0000001 Orphanet:140969 Orphanet:377788 disease +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0019691 Orphanet:140969 Orphanet:93426 short rib dysplasia +MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0000001 Orphanet:70587 Orphanet:377788 disease +MONDO:0009973 reticular dysgenesis MONDO:0000001 Orphanet:33355 Orphanet:377788 disease +MONDO:0009975 reticulum cell sarcoma MONDO:0000001 Orphanet:86900 Orphanet:377788 disease +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium MONDO:0000001 Orphanet:99002 Orphanet:377788 disease +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0000001 Orphanet:2909 Orphanet:377788 disease +MONDO:0010005 saccharopinuria MONDO:0000001 Orphanet:3124 Orphanet:377788 disease +MONDO:0010006 Sandhoff disease MONDO:0000001 Orphanet:796 Orphanet:377788 disease +MONDO:0010008 sarcosinemia MONDO:0000001 Orphanet:3129 Orphanet:377788 disease +MONDO:0010011 schizencephaly MONDO:0000001 Orphanet:799 Orphanet:377788 disease +MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0000001 Orphanet:3143 Orphanet:377788 disease +MONDO:0010013 schneckenbecken dysplasia MONDO:0019694 Orphanet:3144 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0010017 sea-blue histiocyte syndrome MONDO:0000001 Orphanet:158029 Orphanet:377788 disease +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0000001 Orphanet:911 Orphanet:377788 disease +MONDO:0010024 Beemer-Langer syndrome MONDO:0015461 Orphanet:93268 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0010028 sialuria MONDO:0000001 Orphanet:3166 Orphanet:377788 disease +MONDO:0010030 Sjogren syndrome MONDO:0000001 Orphanet:289390 Orphanet:377788 disease +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0000001 Orphanet:816 Orphanet:377788 disease +MONDO:0010033 generalized peeling skin syndrome MONDO:0000001 Orphanet:263543 Orphanet:377788 disease +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0019240 Orphanet:818 Orphanet:79195 sterol biosynthesis disorder +MONDO:0010038 growth delay due to insulin-like growth factor I resistance MONDO:0000001 Orphanet:73273 Orphanet:377788 disease +MONDO:0010041 Charlevoix-Saguenay spastic ataxia MONDO:0000001 Orphanet:98 Orphanet:377788 disease +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0000001 Orphanet:100998 Orphanet:377788 disease +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0000001 Orphanet:100996 Orphanet:377788 disease +MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0000001 Orphanet:101003 Orphanet:377788 disease +MONDO:0010047 hereditary spastic paraplegia 5A MONDO:0000001 Orphanet:100986 Orphanet:377788 disease +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0000001 Orphanet:2818 Orphanet:377788 disease +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO:0000001 Orphanet:3011 Orphanet:377788 disease +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0000001 Orphanet:1186 Orphanet:377788 disease +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0000001 Orphanet:95433 Orphanet:377788 disease +MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome MONDO:0000001 Orphanet:1185 Orphanet:377788 disease +MONDO:0010064 spastic ataxia-corneal dystrophy syndrome MONDO:0000001 Orphanet:2572 Orphanet:377788 disease +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0000001 Orphanet:93357 Orphanet:377788 disease +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0000001 Orphanet:163665 Orphanet:377788 disease +MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:0000001 Orphanet:642099 Orphanet:377788 disease +MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type MONDO:0000001 Orphanet:93351 Orphanet:377788 disease +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO:0000001 Orphanet:93358 Orphanet:377788 disease +MONDO:0010078 spondyloperipheral dysplasia MONDO:0000001 Orphanet:1856 Orphanet:377788 disease +MONDO:0010079 Canavan disease MONDO:0000001 Orphanet:141 Orphanet:377788 disease +MONDO:0010079 Canavan disease MONDO:0024237 Orphanet:141 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0010080 familial infantile bilateral striatal necrosis MONDO:0000001 Orphanet:225154 Orphanet:377788 disease +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0000001 Orphanet:22 Orphanet:377788 disease +MONDO:0010085 Schilder disease MONDO:0000001 Orphanet:59298 Orphanet:377788 disease +MONDO:0010088 mucosulfatidosis MONDO:0000001 Orphanet:585 Orphanet:377788 disease +MONDO:0010091 Cold-induced sweating syndrome 1 MONDO:0018431 Orphanet:1545 Orphanet:401993 cold-induced sweating syndrome - hyperthermia spectrum +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome MONDO:0000001 Orphanet:1178 Orphanet:377788 disease +MONDO:0010099 Tay-Sachs disease AB variant MONDO:0000001 Orphanet:309246 Orphanet:377788 disease +MONDO:0010100 Tay-Sachs disease MONDO:0000001 Orphanet:845 Orphanet:377788 disease +MONDO:0010116 thoracomelic dysplasia MONDO:0000001 Orphanet:1803 Orphanet:377788 disease +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency MONDO:0000001 Orphanet:1675 Orphanet:377788 disease +MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0000001 Orphanet:95716 Orphanet:377788 disease +MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO:0000001 Orphanet:90674 Orphanet:377788 disease +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency MONDO:0000001 Orphanet:238670 Orphanet:377788 disease +MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO:0000001 Orphanet:90673 Orphanet:377788 disease +MONDO:0010146 Kerion celsi MONDO:0000001 Orphanet:499 Orphanet:377788 disease +MONDO:0010149 transcobalamin II deficiency MONDO:0000001 Orphanet:859 Orphanet:377788 disease +MONDO:0010155 Dorfman-Chanarin disease MONDO:0000001 Orphanet:98907 Orphanet:377788 disease +MONDO:0010156 Troyer syndrome MONDO:0000001 Orphanet:101000 Orphanet:377788 disease +MONDO:0010160 tyrosinemia type II MONDO:0000001 Orphanet:28378 Orphanet:377788 disease +MONDO:0010160 tyrosinemia type II MONDO:0017307 Orphanet:28378 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0010161 tyrosinemia type I MONDO:0000001 Orphanet:882 Orphanet:377788 disease +MONDO:0010161 tyrosinemia type I MONDO:0017307 Orphanet:882 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0010162 tyrosinemia type III MONDO:0000001 Orphanet:69723 Orphanet:377788 disease +MONDO:0010162 tyrosinemia type III MONDO:0017307 Orphanet:69723 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0010167 urocanic aciduria MONDO:0000001 Orphanet:210128 Orphanet:377788 disease +MONDO:0010181 oculogastrointestinal muscular dystrophy MONDO:0000001 Orphanet:1876 Orphanet:377788 disease +MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0000001 Orphanet:96 Orphanet:377788 disease +MONDO:0010196 Werner syndrome MONDO:0000001 Orphanet:902 Orphanet:377788 disease +MONDO:0010196 Werner syndrome MONDO:0019303 Orphanet:902 Orphanet:79389 premature aging syndrome +MONDO:0010200 Wilson disease MONDO:0000001 Orphanet:905 Orphanet:377788 disease +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0000001 Orphanet:90342 Orphanet:377788 disease +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015951 Orphanet:90342 Orphanet:183490 hereditary photodermatosis +MONDO:0010220 Young syndrome MONDO:0000001 Orphanet:3471 Orphanet:377788 disease +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0000001 Orphanet:2148 Orphanet:377788 disease +MONDO:0010243 X-linked immunoneurologic disorder MONDO:0000001 Orphanet:2571 Orphanet:377788 disease +MONDO:0010246 developmental and epileptic encephalopathy, 9 MONDO:0000001 Orphanet:101039 Orphanet:377788 disease +MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia MONDO:0000001 Orphanet:93349 Orphanet:377788 disease +MONDO:0010250 intellectual disability, X-linked 49 MONDO:0000001 Orphanet:485350 Orphanet:377788 disease +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0000001 Orphanet:86818 Orphanet:377788 disease +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0000001 Orphanet:95702 Orphanet:377788 disease +MONDO:0010269 Coats disease MONDO:0000001 Orphanet:190 Orphanet:377788 disease +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0000001 Orphanet:456328 Orphanet:377788 disease +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0018947 Orphanet:456328 Orphanet:595 centronuclear myopathy +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0000001 Orphanet:83629 Orphanet:377788 disease +MONDO:0010281 Danon disease MONDO:0000001 Orphanet:34587 Orphanet:377788 disease +MONDO:0010287 hereditary spastic paraplegia 16 MONDO:0000001 Orphanet:100997 Orphanet:377788 disease +MONDO:0010288 adrenomyodystrophy MONDO:0000001 Orphanet:977 Orphanet:377788 disease +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0000001 Orphanet:98813 Orphanet:377788 disease +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0019287 Orphanet:98813 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0010294 X-linked severe congenital neutropenia MONDO:0000001 Orphanet:86788 Orphanet:377788 disease +MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0000001 Orphanet:69088 Orphanet:377788 disease +MONDO:0010298 Lesch-Nyhan syndrome MONDO:0000001 Orphanet:510 Orphanet:377788 disease +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0000001 Orphanet:79233 Orphanet:377788 disease +MONDO:0010305 creatine transporter deficiency MONDO:0000001 Orphanet:52503 Orphanet:377788 disease +MONDO:0010311 Becker muscular dystrophy MONDO:0000001 Orphanet:98895 Orphanet:377788 disease +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0000001 Orphanet:276 Orphanet:377788 disease +MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO:0000001 Orphanet:93952 Orphanet:377788 disease +MONDO:0010327 HSD10 mitochondrial disease MONDO:0000001 Orphanet:391417 Orphanet:377788 disease +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome MONDO:0000001 Orphanet:231401 Orphanet:377788 disease +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0000001 Orphanet:137831 Orphanet:377788 disease +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 MONDO:0000001 Orphanet:139557 Orphanet:377788 disease +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0000001 Orphanet:85294 Orphanet:377788 disease +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0015653 Orphanet:85294 Orphanet:166472 monogenic epilepsy +MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0000001 Orphanet:59 Orphanet:377788 disease +MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis MONDO:0000001 Orphanet:93606 Orphanet:377788 disease +MONDO:0010362 glycogen storage disease IXd MONDO:0000001 Orphanet:715 Orphanet:377788 disease +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:85332 Orphanet:377788 disease +MONDO:0010367 SHOX-related short stature MONDO:0000001 Orphanet:314795 Orphanet:377788 disease +MONDO:0010371 Aland island eye disease MONDO:0000001 Orphanet:178333 Orphanet:377788 disease +MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0000001 Orphanet:163985 Orphanet:377788 disease +MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0017658 Orphanet:163985 Orphanet:306773 hyperekplexia +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0000001 Orphanet:139583 Orphanet:377788 disease +MONDO:0010379 Brunner syndrome MONDO:0000001 Orphanet:3057 Orphanet:377788 disease +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0000001 Orphanet:538934 Orphanet:377788 disease +MONDO:0010390 ocular albinism with late-onset sensorineural deafness MONDO:0000001 Orphanet:1000 Orphanet:377788 disease +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0000001 Orphanet:713 Orphanet:377788 disease +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0000001 Orphanet:3222 Orphanet:377788 disease +MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0000001 Orphanet:505652 Orphanet:377788 disease +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MONDO:0000001 Orphanet:209370 Orphanet:377788 disease +MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0000001 Orphanet:261476 Orphanet:377788 disease +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy MONDO:0000001 Orphanet:431272 Orphanet:377788 disease +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0000001 Orphanet:178461 Orphanet:377788 disease +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0016106 Orphanet:178461 Orphanet:206644 progressive muscular dystrophy +MONDO:0010404 X-linked non progressive cerebellar ataxia MONDO:0000001 Orphanet:314978 Orphanet:377788 disease +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome MONDO:0000001 Orphanet:163979 Orphanet:377788 disease +MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0000001 Orphanet:163937 Orphanet:377788 disease +MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0000001 Orphanet:171607 Orphanet:377788 disease +MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0000001 Orphanet:443197 Orphanet:377788 disease +MONDO:0010425 Lisch epithelial corneal dystrophy MONDO:0000001 Orphanet:98955 Orphanet:377788 disease +MONDO:0010426 X-linked endothelial corneal dystrophy MONDO:0000001 Orphanet:293621 Orphanet:377788 disease +MONDO:0010434 synovial sarcoma MONDO:0000001 Orphanet:3273 Orphanet:377788 disease +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0000001 Orphanet:238329 Orphanet:377788 disease +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0000001 Orphanet:363727 Orphanet:377788 disease +MONDO:0010446 X-linked cone dysfunction syndrome with myopia MONDO:0000001 Orphanet:90001 Orphanet:377788 disease +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0000001 Orphanet:280679 Orphanet:377788 disease +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0000001 Orphanet:317476 Orphanet:377788 disease +MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0000001 Orphanet:289483 Orphanet:377788 disease +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0000001 Orphanet:163956 Orphanet:377788 disease +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0000001 Orphanet:163966 Orphanet:377788 disease +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0000001 Orphanet:163961 Orphanet:377788 disease +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0015159 Orphanet:300496 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0000001 Orphanet:324422 Orphanet:377788 disease +MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0000001 Orphanet:324410 Orphanet:377788 disease +MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:0000001 Orphanet:329235 Orphanet:377788 disease +MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO:0000001 Orphanet:329284 Orphanet:377788 disease +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type MONDO:0017393 Orphanet:293707 Orphanet:293642 blepharophimosis - intellectual disability syndrome +MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0000001 Orphanet:356961 Orphanet:377788 disease +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:0000001 Orphanet:352675 Orphanet:377788 disease +MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:0000001 Orphanet:466026 Orphanet:377788 disease +MONDO:0010482 X-linked parkinsonism-spasticity syndrome MONDO:0000001 Orphanet:363654 Orphanet:377788 disease +MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0000001 Orphanet:370927 Orphanet:377788 disease +MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0000001 Orphanet:504530 Orphanet:377788 disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0000001 Orphanet:906 Orphanet:377788 disease +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0000001 Orphanet:85453 Orphanet:377788 disease +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0700264 Orphanet:85453 Orphanet:477647 type 1 interferonopathy +MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0000001 Orphanet:2802 Orphanet:377788 disease +MONDO:0010526 Fabry disease MONDO:0000001 Orphanet:324 Orphanet:377788 disease +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO:0000001 Orphanet:1145 Orphanet:377788 disease +MONDO:0010533 Arts syndrome MONDO:0000001 Orphanet:1187 Orphanet:377788 disease +MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0000001 Orphanet:85292 Orphanet:377788 disease +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0000001 Orphanet:113 Orphanet:377788 disease +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0000001 Orphanet:166113 Orphanet:377788 disease +MONDO:0010540 bullous dystrophy, macular type MONDO:0000001 Orphanet:1867 Orphanet:377788 disease +MONDO:0010541 X-linked calvarial hyperostosis MONDO:0000001 Orphanet:391327 Orphanet:377788 disease +MONDO:0010543 Barth syndrome MONDO:0000001 Orphanet:111 Orphanet:377788 disease +MONDO:0010547 X-linked progressive cerebellar ataxia MONDO:0000001 Orphanet:1175 Orphanet:377788 disease +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0000001 Orphanet:101075 Orphanet:377788 disease +MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0000001 Orphanet:101076 Orphanet:377788 disease +MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0000001 Orphanet:101077 Orphanet:377788 disease +MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:0015775 Orphanet:79345 Orphanet:176 non-rhizomelic chondrodysplasia punctata +MONDO:0010557 choroideremia MONDO:0000001 Orphanet:180 Orphanet:377788 disease +MONDO:0010563 blue cone monochromacy MONDO:0000001 Orphanet:16 Orphanet:377788 disease +MONDO:0010563 blue cone monochromacy MONDO:0001703 Orphanet:16 Orphanet:98658 color vision disorder +MONDO:0010568 Aicardi syndrome MONDO:0000001 Orphanet:50 Orphanet:377788 disease +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0018233 Orphanet:90652 Orphanet:364541 otopalatodigital syndrome spectrum disorder +MONDO:0010572 occipital horn syndrome MONDO:0000001 Orphanet:198 Orphanet:377788 disease +MONDO:0010572 occipital horn syndrome MONDO:0016175 Orphanet:198 Orphanet:209 cutis laxa +MONDO:0010578 deafness dystonia syndrome MONDO:0000001 Orphanet:52368 Orphanet:377788 disease +MONDO:0010579 X-linked corneal dermoid MONDO:0000001 Orphanet:1661 Orphanet:377788 disease +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0000001 Orphanet:37042 Orphanet:377788 disease +MONDO:0010586 X-linked Ehlers-Danlos syndrome MONDO:0000001 Orphanet:75497 Orphanet:377788 disease +MONDO:0010590 FG syndrome 1 MONDO:0000001 Orphanet:93932 Orphanet:377788 disease +MONDO:0010591 fingerprint body myopathy MONDO:0000001 Orphanet:97232 Orphanet:377788 disease +MONDO:0010602 hemophilia A MONDO:0000001 Orphanet:98878 Orphanet:377788 disease +MONDO:0010604 hemophilia B MONDO:0000001 Orphanet:98879 Orphanet:377788 disease +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland MONDO:0016390 Orphanet:2239 Orphanet:2238 familial hypoparathyroidism +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0000001 Orphanet:89936 Orphanet:377788 disease +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0000044 Orphanet:89936 Orphanet:437 hereditary hypophosphatemic rickets +MONDO:0010621 CHILD syndrome MONDO:0000001 Orphanet:139 Orphanet:377788 disease +MONDO:0010622 recessive X-linked ichthyosis MONDO:0000001 Orphanet:461 Orphanet:377788 disease +MONDO:0010651 Menkes disease MONDO:0000001 Orphanet:565 Orphanet:377788 disease +MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0000001 Orphanet:3052 Orphanet:377788 disease +MONDO:0010656 intellectual disability, X-linked 1 MONDO:0000001 Orphanet:397933 Orphanet:377788 disease +MONDO:0010659 FRAXE intellectual disability MONDO:0000001 Orphanet:100973 Orphanet:377788 disease +MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0000001 Orphanet:3063 Orphanet:377788 disease +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0000001 Orphanet:580 Orphanet:377788 disease +MONDO:0010679 Duchenne muscular dystrophy MONDO:0000001 Orphanet:98896 Orphanet:377788 disease +MONDO:0010683 X-linked myotubular myopathy MONDO:0000001 Orphanet:596 Orphanet:377788 disease +MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:0000001 Orphanet:25980 Orphanet:377788 disease +MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0000001 Orphanet:101078 Orphanet:377788 disease +MONDO:0010698 optic atrophy 2 MONDO:0000001 Orphanet:98890 Orphanet:377788 disease +MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0000001 Orphanet:99014 Orphanet:377788 disease +MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0000001 Orphanet:664 Orphanet:377788 disease +MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0004739 Orphanet:664 Orphanet:79167 urea cycle disorder +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0018233 Orphanet:90650 Orphanet:364541 otopalatodigital syndrome spectrum disorder +MONDO:0010706 premature ovarian failure 1 MONDO:0000001 Orphanet:642691 Orphanet:377788 disease +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0000001 Orphanet:2379 Orphanet:377788 disease +MONDO:0010713 properdin deficiency, X-linked MONDO:0000001 Orphanet:2966 Orphanet:377788 disease +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0000001 Orphanet:702 Orphanet:377788 disease +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0024237 Orphanet:702 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0010716 X-linked lethal multiple pterygium syndrome MONDO:0017415 Orphanet:79447 Orphanet:294060 multiple pterygium syndrome +MONDO:0010720 partial androgen insensitivity syndrome MONDO:0000001 Orphanet:90797 Orphanet:377788 disease +MONDO:0010722 X-linked retinal dysplasia MONDO:0000001 Orphanet:1852 Orphanet:377788 disease +MONDO:0010726 Rett syndrome MONDO:0000001 Orphanet:778 Orphanet:377788 disease +MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0000001 Orphanet:99015 Orphanet:377788 disease +MONDO:0010735 Kennedy disease MONDO:0000001 Orphanet:481 Orphanet:377788 disease +MONDO:0010738 spondylometaphyseal dysplasia, Golden type MONDO:0000001 Orphanet:168544 Orphanet:377788 disease +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0000001 Orphanet:231393 Orphanet:377788 disease +MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0000001 Orphanet:53351 Orphanet:377788 disease +MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015168 Orphanet:3454 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0010771 histiocytoid cardiomyopathy MONDO:0000001 Orphanet:137675 Orphanet:377788 disease +MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0000001 Orphanet:2596 Orphanet:377788 disease +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency MONDO:0000001 Orphanet:254864 Orphanet:377788 disease +MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0000001 Orphanet:1670 Orphanet:377788 disease +MONDO:0010787 Kearns-Sayre syndrome MONDO:0000001 Orphanet:480 Orphanet:377788 disease +MONDO:0010787 Kearns-Sayre syndrome MONDO:0009637 Orphanet:480 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0000001 Orphanet:104 Orphanet:377788 disease +MONDO:0010789 MELAS syndrome MONDO:0000001 Orphanet:550 Orphanet:377788 disease +MONDO:0010789 MELAS syndrome MONDO:0009637 Orphanet:550 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0010790 MERRF syndrome MONDO:0000001 Orphanet:551 Orphanet:377788 disease +MONDO:0010790 MERRF syndrome MONDO:0009637 Orphanet:551 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0010792 lethal infantile mitochondrial myopathy MONDO:0000001 Orphanet:254857 Orphanet:377788 disease +MONDO:0010794 NARP syndrome MONDO:0000001 Orphanet:644 Orphanet:377788 disease +MONDO:0010797 Pearson syndrome MONDO:0000001 Orphanet:699 Orphanet:377788 disease +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0000001 Orphanet:2255 Orphanet:377788 disease +MONDO:0010808 fatal familial insomnia MONDO:0000001 Orphanet:466 Orphanet:377788 disease +MONDO:0010816 Qazi Markouizos syndrome MONDO:0000001 Orphanet:3010 Orphanet:377788 disease +MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0000001 Orphanet:2983 Orphanet:377788 disease +MONDO:0010826 childhood absence epilepsy MONDO:0000001 Orphanet:64280 Orphanet:377788 disease +MONDO:0010829 CARASIL syndrome MONDO:0000001 Orphanet:199354 Orphanet:377788 disease +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0000001 Orphanet:228354 Orphanet:377788 disease +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0016295 Orphanet:228354 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0000001 Orphanet:1216 Orphanet:377788 disease +MONDO:0010847 spinocerebellar ataxia type 4 MONDO:0000001 Orphanet:98765 Orphanet:377788 disease +MONDO:0010848 spinocerebellar ataxia type 5 MONDO:0000001 Orphanet:98766 Orphanet:377788 disease +MONDO:0010849 palmoplantar keratoderma, Bothnian type MONDO:0000001 Orphanet:2337 Orphanet:377788 disease +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0000001 Orphanet:88924 Orphanet:377788 disease +MONDO:0010857 semantic dementia MONDO:0000001 Orphanet:100069 Orphanet:377788 disease +MONDO:0010857 semantic dementia MONDO:0017276 Orphanet:100069 Orphanet:282 frontotemporal dementia +MONDO:0010857 semantic dementia MONDO:0019806 Orphanet:100069 Orphanet:95432 primary progressive aphasia +MONDO:0010870 tibial muscular dystrophy MONDO:0000001 Orphanet:609 Orphanet:377788 disease +MONDO:0010870 tibial muscular dystrophy MONDO:0016191 Orphanet:609 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0000001 Orphanet:64751 Orphanet:377788 disease +MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0000001 Orphanet:100988 Orphanet:377788 disease +MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0000001 Orphanet:3387 Orphanet:377788 disease +MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0000001 Orphanet:101046 Orphanet:377788 disease +MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type MONDO:0000001 Orphanet:163662 Orphanet:377788 disease +MONDO:0010907 familial hypertryptophanemia MONDO:0000001 Orphanet:2224 Orphanet:377788 disease +MONDO:0010908 loose anagen syndrome MONDO:0000001 Orphanet:168 Orphanet:377788 disease +MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0000001 Orphanet:2965 Orphanet:377788 disease +MONDO:0010921 nasal dermoid cyst MONDO:0015476 Orphanet:141103 Orphanet:155835 cysts and fistulae of the face and oral cavity +MONDO:0010922 Satoyoshi syndrome MONDO:0000001 Orphanet:3130 Orphanet:377788 disease +MONDO:0010923 proximal myopathy with focal depletion of mitochondria MONDO:0000001 Orphanet:521305 Orphanet:377788 disease +MONDO:0010924 D-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:79315 Orphanet:377788 disease +MONDO:0010932 progressive bifocal chorioretinal atrophy MONDO:0000001 Orphanet:75373 Orphanet:377788 disease +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0000001 Orphanet:35078 Orphanet:377788 disease +MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0000001 Orphanet:69663 Orphanet:377788 disease +MONDO:0010947 Budd-Chiari syndrome MONDO:0000001 Orphanet:131 Orphanet:377788 disease +MONDO:0010949 Charcot-Marie-Tooth disease type 2B MONDO:0000001 Orphanet:99936 Orphanet:377788 disease +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts MONDO:0000001 Orphanet:163 Orphanet:377788 disease +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0000001 Orphanet:530838 Orphanet:377788 disease +MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:0000001 Orphanet:89838 Orphanet:377788 disease +MONDO:0010977 Brody myopathy MONDO:0000001 Orphanet:53347 Orphanet:377788 disease +MONDO:0010983 dystonia 9 MONDO:0000001 Orphanet:53583 Orphanet:377788 disease +MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0000001 Orphanet:1117 Orphanet:377788 disease +MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0019294 Orphanet:1117 Orphanet:79380 mixed dermis disorder +MONDO:0010995 Charcot-Marie-Tooth disease type 1C MONDO:0000001 Orphanet:101083 Orphanet:377788 disease +MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0000001 Orphanet:79321 Orphanet:377788 disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0000001 Orphanet:447753 Orphanet:377788 disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0015087 Orphanet:447753 Orphanet:100979 autosomal dominant complex spastic paraplegia +MONDO:0011012 African iron overload MONDO:0000001 Orphanet:139507 Orphanet:377788 disease +MONDO:0011012 African iron overload MONDO:0017763 Orphanet:139507 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0011014 pleuropulmonary blastoma MONDO:0000001 Orphanet:64742 Orphanet:377788 disease +MONDO:0011017 Naxos disease MONDO:0000001 Orphanet:34217 Orphanet:377788 disease +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0000001 Orphanet:1014 Orphanet:377788 disease +MONDO:0011023 hereditary mixed polyposis syndrome MONDO:0000001 Orphanet:157794 Orphanet:377788 disease +MONDO:0011025 Cayman type cerebellar ataxia MONDO:0000001 Orphanet:94122 Orphanet:377788 disease +MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0000001 Orphanet:219 Orphanet:377788 disease +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0000001 Orphanet:1171 Orphanet:377788 disease +MONDO:0011060 early-onset non-syndromic cataract MONDO:0000001 Orphanet:91492 Orphanet:377788 disease +MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 MONDO:0000001 Orphanet:99955 Orphanet:377788 disease +MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0000001 Orphanet:71290 Orphanet:377788 disease +MONDO:0011073 diabetes mellitus, transient neonatal, 1 MONDO:0000001 Orphanet:99886 Orphanet:377788 disease +MONDO:0011073 diabetes mellitus, transient neonatal, 1 MONDO:0016391 Orphanet:99886 Orphanet:224 neonatal diabetes mellitus +MONDO:0011076 myofibrillar myopathy 1 MONDO:0000001 Orphanet:98909 Orphanet:377788 disease +MONDO:0011085 Charcot-Marie-Tooth disease type 4D MONDO:0000001 Orphanet:99950 Orphanet:377788 disease +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0000001 Orphanet:331206 Orphanet:377788 disease +MONDO:0011091 Charcot-Marie-Tooth disease type 2D MONDO:0000001 Orphanet:99938 Orphanet:377788 disease +MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0000001 Orphanet:67041 Orphanet:377788 disease +MONDO:0011099 human HOXA1 syndromes MONDO:0000001 Orphanet:69739 Orphanet:377788 disease +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type MONDO:0000001 Orphanet:166016 Orphanet:377788 disease +MONDO:0011113 Charcot-Marie-Tooth disease type 4C MONDO:0000001 Orphanet:99949 Orphanet:377788 disease +MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome MONDO:0000001 Orphanet:168451 Orphanet:377788 disease +MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0000001 Orphanet:169095 Orphanet:377788 disease +MONDO:0011136 Quebec platelet disorder MONDO:0000001 Orphanet:220436 Orphanet:377788 disease +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0000001 Orphanet:2953 Orphanet:377788 disease +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0000001 Orphanet:228363 Orphanet:377788 disease +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0016295 Orphanet:228363 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0000001 Orphanet:363741 Orphanet:377788 disease +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0000001 Orphanet:363665 Orphanet:377788 disease +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:0000001 Orphanet:281201 Orphanet:377788 disease +MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:0000001 Orphanet:34514 Orphanet:377788 disease +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0000001 Orphanet:30924 Orphanet:377788 disease +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0015962 Orphanet:30924 Orphanet:183592 inherited renal tubular disease +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0017765 Orphanet:30924 Orphanet:309848 disorder of magnesium transport +MONDO:0011178 infantile convulsions and choreoathetosis MONDO:0000001 Orphanet:31709 Orphanet:377788 disease +MONDO:0011184 childhood apraxia of speech MONDO:0000001 Orphanet:209908 Orphanet:377788 disease +MONDO:0011185 Thiel-Behnke corneal dystrophy MONDO:0000001 Orphanet:98960 Orphanet:377788 disease +MONDO:0011197 hereditary thermosensitive neuropathy MONDO:0000001 Orphanet:84093 Orphanet:377788 disease +MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type MONDO:0000001 Orphanet:93356 Orphanet:377788 disease +MONDO:0011202 RHYNS syndrome MONDO:0000001 Orphanet:140976 Orphanet:377788 disease +MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0000001 Orphanet:168549 Orphanet:377788 disease +MONDO:0011217 desmosterolosis MONDO:0000001 Orphanet:35107 Orphanet:377788 disease +MONDO:0011217 desmosterolosis MONDO:0019240 Orphanet:35107 Orphanet:79195 sterol biosynthesis disorder +MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0000001 Orphanet:91132 Orphanet:377788 disease +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0000001 Orphanet:357043 Orphanet:377788 disease +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0024237 Orphanet:357043 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0024257 Orphanet:357043 Orphanet:98505 hereditary motor neuron disease +MONDO:0011224 monomelic amyotrophy MONDO:0000001 Orphanet:65684 Orphanet:377788 disease +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0000001 Orphanet:275 Orphanet:377788 disease +MONDO:0011229 ethylmalonic encephalopathy MONDO:0000001 Orphanet:51188 Orphanet:377788 disease +MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0000001 Orphanet:79299 Orphanet:377788 disease +MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome MONDO:0000001 Orphanet:468672 Orphanet:377788 disease +MONDO:0011246 megaconial type congenital muscular dystrophy MONDO:0000001 Orphanet:280671 Orphanet:377788 disease +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type MONDO:0000001 Orphanet:93352 Orphanet:377788 disease +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0000001 Orphanet:357158 Orphanet:377788 disease +MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0000001 Orphanet:79319 Orphanet:377788 disease +MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0000001 Orphanet:163649 Orphanet:377788 disease +MONDO:0011264 torsion dystonia 6 MONDO:0000001 Orphanet:98806 Orphanet:377788 disease +MONDO:0011266 myotonic dystrophy type 2 MONDO:0000001 Orphanet:606 Orphanet:377788 disease +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0000001 Orphanet:79320 Orphanet:377788 disease +MONDO:0011299 Huntington disease-like 1 MONDO:0000001 Orphanet:157941 Orphanet:377788 disease +MONDO:0011301 pseudohypoparathyroidism type 1B MONDO:0000001 Orphanet:94089 Orphanet:377788 disease +MONDO:0011308 GRACILE syndrome MONDO:0000001 Orphanet:53693 Orphanet:377788 disease +MONDO:0011309 familial gestational hyperthyroidism MONDO:0000001 Orphanet:99819 Orphanet:377788 disease +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0000001 Orphanet:2289 Orphanet:377788 disease +MONDO:0011330 spinocerebellar ataxia type 10 MONDO:0000001 Orphanet:98761 Orphanet:377788 disease +MONDO:0011331 congenital chylothorax MONDO:0000001 Orphanet:264688 Orphanet:377788 disease +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0000001 Orphanet:93360 Orphanet:377788 disease +MONDO:0011338 Omenn syndrome MONDO:0000001 Orphanet:39041 Orphanet:377788 disease +MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0000001 Orphanet:100989 Orphanet:377788 disease +MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0000001 Orphanet:238459 Orphanet:377788 disease +MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:0000001 Orphanet:178464 Orphanet:377788 disease +MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:0016191 Orphanet:178464 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0017393 Orphanet:3047 Orphanet:293642 blepharophimosis - intellectual disability syndrome +MONDO:0011382 sickle cell anemia MONDO:0000001 Orphanet:232 Orphanet:377788 disease +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:0000001 Orphanet:2478 Orphanet:377788 disease +MONDO:0011396 loricrin keratoderma MONDO:0000001 Orphanet:79395 Orphanet:377788 disease +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0000001 Orphanet:314404 Orphanet:377788 disease +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa MONDO:0000001 Orphanet:89843 Orphanet:377788 disease +MONDO:0011399 alpha thalassemia spectrum MONDO:0000001 Orphanet:846 Orphanet:377788 disease +MONDO:0011405 poikiloderma with neutropenia MONDO:0000001 Orphanet:221046 Orphanet:377788 disease +MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0000001 Orphanet:100991 Orphanet:377788 disease +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies MONDO:0000001 Orphanet:85110 Orphanet:377788 disease +MONDO:0011417 hemochromatosis type 3 MONDO:0000001 Orphanet:225123 Orphanet:377788 disease +MONDO:0011420 short stature due to partial GHR deficiency MONDO:0000001 Orphanet:314802 Orphanet:377788 disease +MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0000001 Orphanet:119 Orphanet:377788 disease +MONDO:0011424 Carney triad MONDO:0000001 Orphanet:139411 Orphanet:377788 disease +MONDO:0011426 aceruloplasminemia MONDO:0000001 Orphanet:48818 Orphanet:377788 disease +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 MONDO:0000001 Orphanet:98920 Orphanet:377788 disease +MONDO:0011439 spinocerebellar ataxia type 12 MONDO:0000001 Orphanet:98762 Orphanet:377788 disease +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0000001 Orphanet:2822 Orphanet:377788 disease +MONDO:0011448 PPARG-related familial partial lipodystrophy MONDO:0000001 Orphanet:79083 Orphanet:377788 disease +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0000001 Orphanet:69126 Orphanet:377788 disease +MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive MONDO:0000001 Orphanet:538096 Orphanet:377788 disease +MONDO:0011464 spinocerebellar ataxia type 11 MONDO:0000001 Orphanet:98767 Orphanet:377788 disease +MONDO:0011466 distal myopathy, Welander type MONDO:0000001 Orphanet:603 Orphanet:377788 disease +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type MONDO:0000001 Orphanet:90117 Orphanet:377788 disease +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency MONDO:0000001 Orphanet:158668 Orphanet:377788 disease +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 MONDO:0000001 Orphanet:99956 Orphanet:377788 disease +MONDO:0011476 MHC class I deficiency MONDO:0000001 Orphanet:34592 Orphanet:377788 disease +MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0000001 Orphanet:443236 Orphanet:377788 disease +MONDO:0011486 congenital muscular dystrophy 1B MONDO:0000001 Orphanet:98893 Orphanet:377788 disease +MONDO:0011487 Huntington disease-like 3 MONDO:0000001 Orphanet:157946 Orphanet:377788 disease +MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0000001 Orphanet:100993 Orphanet:377788 disease +MONDO:0011490 diffuse panbronchiolitis MONDO:0000001 Orphanet:171700 Orphanet:377788 disease +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:0000001 Orphanet:93279 Orphanet:377788 disease +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:0022800 Orphanet:93279 Orphanet:93421 type 2 collagenopathy +MONDO:0011500 Becker nevus syndrome MONDO:0000001 Orphanet:64755 Orphanet:377788 disease +MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0000001 Orphanet:352582 Orphanet:377788 disease +MONDO:0011512 Brooke-Spiegler syndrome MONDO:0000001 Orphanet:79493 Orphanet:377788 disease +MONDO:0011517 pseudohyperaldosteronism type 2 MONDO:0000001 Orphanet:88660 Orphanet:377788 disease +MONDO:0011522 hereditary spastic paraplegia 14 MONDO:0000001 Orphanet:100995 Orphanet:377788 disease +MONDO:0011524 Dianzani autoimmune lymphoproliferative disease MONDO:0000001 Orphanet:275523 Orphanet:377788 disease +MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0000001 Orphanet:99951 Orphanet:377788 disease +MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0000001 Orphanet:98768 Orphanet:377788 disease +MONDO:0011532 hereditary spastic paraplegia 13 MONDO:0000001 Orphanet:100994 Orphanet:377788 disease +MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0000001 Orphanet:99953 Orphanet:377788 disease +MONDO:0011537 macrocephaly-autism syndrome MONDO:0000001 Orphanet:210548 Orphanet:377788 disease +MONDO:0011539 nemaline myopathy 5 MONDO:0000001 Orphanet:98902 Orphanet:377788 disease +MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0000001 Orphanet:98763 Orphanet:377788 disease +MONDO:0011541 dilated cardiomyopathy 1J MONDO:0000001 Orphanet:217622 Orphanet:377788 disease +MONDO:0011551 TH-deficient dopa-responsive dystonia MONDO:0000001 Orphanet:101150 Orphanet:377788 disease +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0000001 Orphanet:98856 Orphanet:377788 disease +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 MONDO:0000001 Orphanet:101101 Orphanet:377788 disease +MONDO:0011576 familial hyperaldosteronism type II MONDO:0000001 Orphanet:404 Orphanet:377788 disease +MONDO:0011576 familial hyperaldosteronism type II MONDO:0021227 Orphanet:404 Orphanet:100091 adrenal gland neoplasm +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia MONDO:0000001 Orphanet:97290 Orphanet:377788 disease +MONDO:0011579 late-onset retinal degeneration MONDO:0000001 Orphanet:67042 Orphanet:377788 disease +MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0000001 Orphanet:65282 Orphanet:377788 disease +MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0000001 Orphanet:401869 Orphanet:377788 disease +MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0000001 Orphanet:319462 Orphanet:377788 disease +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0000001 Orphanet:139552 Orphanet:377788 disease +MONDO:0011595 nonsyndromic congenital nail disorder 7 MONDO:0000001 Orphanet:79144 Orphanet:377788 disease +MONDO:0011599 birdshot chorioretinopathy MONDO:0000001 Orphanet:179 Orphanet:377788 disease +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0000001 Orphanet:247598 Orphanet:377788 disease +MONDO:0011603 GNE myopathy MONDO:0000001 Orphanet:602 Orphanet:377788 disease +MONDO:0011605 generalized basaloid follicular hamartoma syndrome MONDO:0000001 Orphanet:168632 Orphanet:377788 disease +MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0000001 Orphanet:243343 Orphanet:377788 disease +MONDO:0011612 glycine encephalopathy MONDO:0000001 Orphanet:407 Orphanet:377788 disease +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0000001 Orphanet:35701 Orphanet:377788 disease +MONDO:0011624 transaldolase deficiency MONDO:0000001 Orphanet:101028 Orphanet:377788 disease +MONDO:0011628 propionic acidemia MONDO:0000001 Orphanet:35 Orphanet:377788 disease +MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0000001 Orphanet:79330 Orphanet:377788 disease +MONDO:0011631 hemochromatosis type 4 MONDO:0000001 Orphanet:647834 Orphanet:377788 disease +MONDO:0011631 hemochromatosis type 4 MONDO:0000001 Orphanet:648562 Orphanet:377788 disease +MONDO:0011631 hemochromatosis type 4 MONDO:0017763 Orphanet:648562 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0000001 Orphanet:99937 Orphanet:377788 disease +MONDO:0011638 neuroferritinopathy MONDO:0000001 Orphanet:157846 Orphanet:377788 disease +MONDO:0011655 alveolar soft part sarcoma MONDO:0000001 Orphanet:163699 Orphanet:377788 disease +MONDO:0011663 juvenile primary lateral sclerosis MONDO:0000001 Orphanet:247604 Orphanet:377788 disease +MONDO:0011663 juvenile primary lateral sclerosis MONDO:0024257 Orphanet:247604 Orphanet:98505 hereditary motor neuron disease +MONDO:0011664 immunodeficiency due to CD25 deficiency MONDO:0000001 Orphanet:169100 Orphanet:377788 disease +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0000001 Orphanet:163690 Orphanet:377788 disease +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0000001 Orphanet:230839 Orphanet:377788 disease +MONDO:0011671 Huntington disease-like 2 MONDO:0000001 Orphanet:98934 Orphanet:377788 disease +MONDO:0011672 persistent polyclonal B-cell lymphocytosis MONDO:0000001 Orphanet:300324 Orphanet:377788 disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0000001 Orphanet:100044 Orphanet:377788 disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0000001 Orphanet:100043 Orphanet:377788 disease +MONDO:0011681 episodic ataxia type 4 MONDO:0000001 Orphanet:79136 Orphanet:377788 disease +MONDO:0011682 episodic ataxia type 3 MONDO:0000001 Orphanet:79135 Orphanet:377788 disease +MONDO:0011683 oculocutaneous albinism type 4 MONDO:0000001 Orphanet:79435 Orphanet:377788 disease +MONDO:0011686 DNA ligase IV deficiency MONDO:0000001 Orphanet:99812 Orphanet:377788 disease +MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F MONDO:0000001 Orphanet:99940 Orphanet:377788 disease +MONDO:0011694 spinocerebellar ataxia type 15/16 MONDO:0000001 Orphanet:98769 Orphanet:377788 disease +MONDO:0011698 glycine N-methyltransferase deficiency MONDO:0000001 Orphanet:289891 Orphanet:377788 disease +MONDO:0011698 glycine N-methyltransferase deficiency MONDO:0019222 Orphanet:289891 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0000001 Orphanet:306674 Orphanet:377788 disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0000001 Orphanet:35878 Orphanet:377788 disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0004739 Orphanet:35878 Orphanet:79167 urea cycle disorder +MONDO:0011719 gastrointestinal stromal tumor MONDO:0000001 Orphanet:44890 Orphanet:377788 disease +MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0000001 Orphanet:178400 Orphanet:377788 disease +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0000001 Orphanet:397973 Orphanet:377788 disease +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0000001 Orphanet:71277 Orphanet:377788 disease +MONDO:0011730 fumaric aciduria MONDO:0000001 Orphanet:24 Orphanet:377788 disease +MONDO:0011731 glucose-galactose malabsorption MONDO:0000001 Orphanet:35710 Orphanet:377788 disease +MONDO:0011740 Carney-Stratakis syndrome MONDO:0000001 Orphanet:97286 Orphanet:377788 disease +MONDO:0011744 primary intraosseous venous malformation MONDO:0000001 Orphanet:140436 Orphanet:377788 disease +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018135 Orphanet:79434 Orphanet:352731 oculocutaneous albinism type 1 +MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0000001 Orphanet:93311 Orphanet:377788 disease +MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0000001 Orphanet:139547 Orphanet:377788 disease +MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:79332 Orphanet:377788 disease +MONDO:0011773 anauxetic dysplasia MONDO:0000001 Orphanet:93347 Orphanet:377788 disease +MONDO:0011776 CINCA syndrome MONDO:0000001 Orphanet:1451 Orphanet:377788 disease +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type MONDO:0000001 Orphanet:166024 Orphanet:377788 disease +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0000001 Orphanet:98759 Orphanet:377788 disease +MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0000001 Orphanet:79324 Orphanet:377788 disease +MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0000001 Orphanet:100999 Orphanet:377788 disease +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0000001 Orphanet:34515 Orphanet:377788 disease +MONDO:0011790 Amish lethal microcephaly MONDO:0017578 Orphanet:99742 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis MONDO:0000001 Orphanet:293168 Orphanet:377788 disease +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis MONDO:0024257 Orphanet:293168 Orphanet:98505 hereditary motor neuron disease +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0000001 Orphanet:94124 Orphanet:377788 disease +MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0000001 Orphanet:99013 Orphanet:377788 disease +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:0000001 Orphanet:275517 Orphanet:377788 disease +MONDO:0011806 osteofibrous dysplasia MONDO:0000001 Orphanet:488265 Orphanet:377788 disease +MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0000001 Orphanet:2744 Orphanet:377788 disease +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0000001 Orphanet:95434 Orphanet:377788 disease +MONDO:0011816 lathosterolosis MONDO:0000001 Orphanet:46059 Orphanet:377788 disease +MONDO:0011816 lathosterolosis MONDO:0019240 Orphanet:46059 Orphanet:79195 sterol biosynthesis disorder +MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0000001 Orphanet:98772 Orphanet:377788 disease +MONDO:0011830 lissencephaly due to LIS1 mutation MONDO:0000001 Orphanet:95232 Orphanet:377788 disease +MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0000001 Orphanet:98773 Orphanet:377788 disease +MONDO:0011834 spinocerebellar ataxia type 18 MONDO:0000001 Orphanet:98771 Orphanet:377788 disease +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0000001 Orphanet:402082 Orphanet:377788 disease +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0000001 Orphanet:70595 Orphanet:377788 disease +MONDO:0011838 Bothnia retinal dystrophy MONDO:0000001 Orphanet:85128 Orphanet:377788 disease +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0000001 Orphanet:199348 Orphanet:377788 disease +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0000001 Orphanet:65284 Orphanet:377788 disease +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0017578 Orphanet:199348 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0017578 Orphanet:65284 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0011855 granular corneal dystrophy type II MONDO:0000001 Orphanet:98963 Orphanet:377788 disease +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0000001 Orphanet:168552 Orphanet:377788 disease +MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0000001 Orphanet:101004 Orphanet:377788 disease +MONDO:0011870 annular epidermolytic ichthyosis MONDO:0000001 Orphanet:281139 Orphanet:377788 disease +MONDO:0011870 annular epidermolytic ichthyosis MONDO:0017266 Orphanet:281139 Orphanet:281103 keratinopathic ichthyosis +MONDO:0011871 Niemann-Pick disease type B MONDO:0000001 Orphanet:77293 Orphanet:377788 disease +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0000001 Orphanet:59303 Orphanet:377788 disease +MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:0017198 Orphanet:2783 Orphanet:2781 osteopetrosis +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:293165 Orphanet:377788 disease +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome MONDO:0000001 Orphanet:307766 Orphanet:377788 disease +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:307936 Orphanet:377788 disease +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0000001 Orphanet:91500 Orphanet:377788 disease +MONDO:0011886 torsion dystonia 13 MONDO:0000001 Orphanet:98807 Orphanet:377788 disease +MONDO:0011888 immunodeficiency 67 MONDO:0000001 Orphanet:70592 Orphanet:377788 disease +MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0000001 Orphanet:99942 Orphanet:377788 disease +MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0000001 Orphanet:101084 Orphanet:377788 disease +MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0000001 Orphanet:99939 Orphanet:377788 disease +MONDO:0011895 idiopathic hypereosinophilic syndrome MONDO:0000001 Orphanet:3260 Orphanet:377788 disease +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0004907 Orphanet:2701 Orphanet:79364 alopecia +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0000001 Orphanet:101102 Orphanet:377788 disease +MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0000001 Orphanet:101085 Orphanet:377788 disease +MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0000001 Orphanet:99943 Orphanet:377788 disease +MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0000001 Orphanet:140927 Orphanet:377788 disease +MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0015642 Orphanet:140927 Orphanet:166311 benign partial infantile seizures +MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0000001 Orphanet:79301 Orphanet:377788 disease +MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0000001 Orphanet:86834 Orphanet:377788 disease +MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0020077 Orphanet:86834 Orphanet:98275 myelodysplastic/myeloproliferative disease +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0000001 Orphanet:100046 Orphanet:377788 disease +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K MONDO:0000001 Orphanet:101097 Orphanet:377788 disease +MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults MONDO:0000001 Orphanet:2688 Orphanet:377788 disease +MONDO:0011927 tufted angioma MONDO:0000001 Orphanet:1063 Orphanet:377788 disease +MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0000001 Orphanet:79326 Orphanet:377788 disease +MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0000001 Orphanet:31112 Orphanet:377788 disease +MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0018078 Orphanet:31112 Orphanet:3394 soft tissue sarcoma +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0700264 Orphanet:1855 Orphanet:477647 type 1 interferonopathy +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0000001 Orphanet:284332 Orphanet:377788 disease +MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0000001 Orphanet:88619 Orphanet:377788 disease +MONDO:0011957 retinal macular dystrophy type 2 MONDO:0000001 Orphanet:319640 Orphanet:377788 disease +MONDO:0011959 sweet syndrome MONDO:0000001 Orphanet:3243 Orphanet:377788 disease +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0000001 Orphanet:139564 Orphanet:377788 disease +MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:86309 Orphanet:377788 disease +MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0000001 Orphanet:62 Orphanet:377788 disease +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0000001 Orphanet:79325 Orphanet:377788 disease +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MONDO:0000001 Orphanet:163727 Orphanet:377788 disease +MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0000001 Orphanet:64739 Orphanet:377788 disease +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0000001 Orphanet:50811 Orphanet:377788 disease +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy MONDO:0000001 Orphanet:99000 Orphanet:377788 disease +MONDO:0011984 synpolydactyly type 2 MONDO:0021651 Orphanet:295197 Orphanet:93403 synpolydactyly +MONDO:0011986 tropical pancreatitis MONDO:0000001 Orphanet:103918 Orphanet:377788 disease +MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0000001 Orphanet:183707 Orphanet:377788 disease +MONDO:0011989 leishmaniasis MONDO:0000001 Orphanet:507 Orphanet:377788 disease +MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0000001 Orphanet:101005 Orphanet:377788 disease +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0000001 Orphanet:521 Orphanet:377788 disease +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0020076 Orphanet:521 Orphanet:98274 myeloproliferative neoplasm +MONDO:0011998 autosomal dominant slowed nerve conduction velocity MONDO:0000001 Orphanet:140481 Orphanet:377788 disease +MONDO:0012004 parathyroid gland carcinoma MONDO:0000001 Orphanet:143 Orphanet:377788 disease +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0000001 Orphanet:100045 Orphanet:377788 disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0000001 Orphanet:217055 Orphanet:377788 disease +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0000001 Orphanet:93283 Orphanet:377788 disease +MONDO:0012033 bradyopsia MONDO:0000001 Orphanet:75374 Orphanet:377788 disease +MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:0000001 Orphanet:55595 Orphanet:377788 disease +MONDO:0012043 Reis-Bucklers corneal dystrophy MONDO:0000001 Orphanet:98961 Orphanet:377788 disease +MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0000001 Orphanet:79327 Orphanet:377788 disease +MONDO:0012061 familial sick sinus syndrome MONDO:0000001 Orphanet:166282 Orphanet:377788 disease +MONDO:0012072 familial partial lipodystrophy, Kobberling type MONDO:0000001 Orphanet:79084 Orphanet:377788 disease +MONDO:0012073 ribose-5-P isomerase deficiency MONDO:0000001 Orphanet:440706 Orphanet:377788 disease +MONDO:0012075 oligodontia-cancer predisposition syndrome MONDO:0000001 Orphanet:300576 Orphanet:377788 disease +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0000001 Orphanet:35708 Orphanet:377788 disease +MONDO:0012089 ichthyosis prematurity syndrome MONDO:0000001 Orphanet:88621 Orphanet:377788 disease +MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0000001 Orphanet:64752 Orphanet:377788 disease +MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L MONDO:0000001 Orphanet:99945 Orphanet:377788 disease +MONDO:0012098 spinocerebellar ataxia type 20 MONDO:0000001 Orphanet:101110 Orphanet:377788 disease +MONDO:0012099 AICA-ribosiduria MONDO:0000001 Orphanet:250977 Orphanet:377788 disease +MONDO:0012103 spinocerebellar ataxia type 25 MONDO:0000001 Orphanet:101111 Orphanet:377788 disease +MONDO:0012104 acquired partial lipodystrophy MONDO:0000001 Orphanet:79087 Orphanet:377788 disease +MONDO:0012105 granulomatosis with polyangiitis MONDO:0000001 Orphanet:900 Orphanet:377788 disease +MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type MONDO:0000001 Orphanet:156728 Orphanet:377788 disease +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency MONDO:0000001 Orphanet:73272 Orphanet:377788 disease +MONDO:0012116 spinocerebellar ataxia type 8 MONDO:0000001 Orphanet:98760 Orphanet:377788 disease +MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0000001 Orphanet:79328 Orphanet:377788 disease +MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0000001 Orphanet:79333 Orphanet:377788 disease +MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0000001 Orphanet:79322 Orphanet:377788 disease +MONDO:0012126 familial avascular necrosis of femoral head MONDO:0000001 Orphanet:86820 Orphanet:377788 disease +MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0000001 Orphanet:140922 Orphanet:377788 disease +MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0016191 Orphanet:140922 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0012130 myofibrillar myopathy 2 MONDO:0000001 Orphanet:399058 Orphanet:377788 disease +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0000001 Orphanet:319340 Orphanet:377788 disease +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO:0000001 Orphanet:168577 Orphanet:377788 disease +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0000001 Orphanet:85167 Orphanet:377788 disease +MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0000001 Orphanet:746 Orphanet:377788 disease +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:5 Orphanet:377788 disease +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:88628 Orphanet:377788 disease +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome MONDO:0020046 Orphanet:88628 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia +MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0000001 Orphanet:101007 Orphanet:377788 disease +MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0000001 Orphanet:168555 Orphanet:377788 disease +MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:0000001 Orphanet:300333 Orphanet:377788 disease +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0000001 Orphanet:137681 Orphanet:377788 disease +MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:0000001 Orphanet:55596 Orphanet:377788 disease +MONDO:0012197 idiopathic aplastic anemia MONDO:0000001 Orphanet:88 Orphanet:377788 disease +MONDO:0012198 PCWH syndrome MONDO:0000001 Orphanet:163746 Orphanet:377788 disease +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0000001 Orphanet:424 Orphanet:377788 disease +MONDO:0012204 familial pseudohyperkalemia MONDO:0000001 Orphanet:90044 Orphanet:377788 disease +MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening MONDO:0000001 Orphanet:137678 Orphanet:377788 disease +MONDO:0012208 congenital reticular ichthyosiform erythroderma MONDO:0000001 Orphanet:281190 Orphanet:377788 disease +MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0000001 Orphanet:79323 Orphanet:377788 disease +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0000001 Orphanet:101006 Orphanet:377788 disease +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000001 Orphanet:266 Orphanet:377788 disease +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000001 Orphanet:268129 Orphanet:377788 disease +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000001 Orphanet:98911 Orphanet:377788 disease +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0000001 Orphanet:397618 Orphanet:377788 disease +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0000001 Orphanet:99947 Orphanet:377788 disease +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 MONDO:0000001 Orphanet:284324 Orphanet:377788 disease +MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MONDO:0000001 Orphanet:567502 Orphanet:377788 disease +MONDO:0012246 spinocerebellar ataxia type 26 MONDO:0000001 Orphanet:101112 Orphanet:377788 disease +MONDO:0012247 spinocerebellar ataxia type 27 MONDO:0000001 Orphanet:98764 Orphanet:377788 disease +MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0000001 Orphanet:86812 Orphanet:377788 disease +MONDO:0012250 Charcot-Marie-Tooth disease type 4H MONDO:0000001 Orphanet:99954 Orphanet:377788 disease +MONDO:0012251 MEDNIK syndrome MONDO:0000001 Orphanet:171851 Orphanet:377788 disease +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia MONDO:0000001 Orphanet:166029 Orphanet:377788 disease +MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses MONDO:0000001 Orphanet:166032 Orphanet:377788 disease +MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0000001 Orphanet:101008 Orphanet:377788 disease +MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0000001 Orphanet:158681 Orphanet:377788 disease +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0000001 Orphanet:79137 Orphanet:377788 disease +MONDO:0012277 myofibrillar myopathy 4 MONDO:0000001 Orphanet:98912 Orphanet:377788 disease +MONDO:0012289 myofibrillar myopathy 5 MONDO:0000001 Orphanet:171445 Orphanet:377788 disease +MONDO:0012290 CEDNIK syndrome MONDO:0000001 Orphanet:66631 Orphanet:377788 disease +MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy MONDO:0000001 Orphanet:320406 Orphanet:377788 disease +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0000001 Orphanet:254875 Orphanet:377788 disease +MONDO:0012316 Majeed syndrome MONDO:0000001 Orphanet:77297 Orphanet:377788 disease +MONDO:0012323 lethal acantholytic epidermolysis bullosa MONDO:0000001 Orphanet:158687 Orphanet:377788 disease +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0000001 Orphanet:101009 Orphanet:377788 disease +MONDO:0012345 acral peeling skin syndrome MONDO:0000001 Orphanet:263534 Orphanet:377788 disease +MONDO:0012354 platelet-type bleeding disorder 8 MONDO:0000001 Orphanet:36355 Orphanet:377788 disease +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency MONDO:0000001 Orphanet:231154 Orphanet:377788 disease +MONDO:0012368 aminoacylase 1 deficiency MONDO:0000001 Orphanet:137754 Orphanet:377788 disease +MONDO:0012381 hyperinsulinism due to INSR deficiency MONDO:0000001 Orphanet:263458 Orphanet:377788 disease +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0000001 Orphanet:71212 Orphanet:377788 disease +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0000001 Orphanet:75391 Orphanet:377788 disease +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0000001 Orphanet:75325 Orphanet:377788 disease +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0000001 Orphanet:1947 Orphanet:377788 disease +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0016295 Orphanet:1947 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:79157 Orphanet:377788 disease +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0000001 Orphanet:71278 Orphanet:377788 disease +MONDO:0012396 exercise-induced hyperinsulinism MONDO:0000001 Orphanet:165991 Orphanet:377788 disease +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0000001 Orphanet:163681 Orphanet:377788 disease +MONDO:0012401 congenital stromal corneal dystrophy MONDO:0000001 Orphanet:101068 Orphanet:377788 disease +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0000001 Orphanet:79096 Orphanet:377788 disease +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0000001 Orphanet:399086 Orphanet:377788 disease +MONDO:0012411 giant axonal neuropathy 2 MONDO:0000001 Orphanet:401964 Orphanet:377788 disease +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0000001 Orphanet:228337 Orphanet:377788 disease +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0016295 Orphanet:228337 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0012423 MORM syndrome MONDO:0000001 Orphanet:75858 Orphanet:377788 disease +MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0000001 Orphanet:66634 Orphanet:377788 disease +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0000001 Orphanet:79118 Orphanet:377788 disease +MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements MONDO:0000001 Orphanet:168606 Orphanet:377788 disease +MONDO:0012447 synpolydactyly type 3 MONDO:0021651 Orphanet:295199 Orphanet:93403 synpolydactyly +MONDO:0012449 spinocerebellar ataxia type 23 MONDO:0000001 Orphanet:101108 Orphanet:377788 disease +MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0000001 Orphanet:101109 Orphanet:377788 disease +MONDO:0012453 hereditary spastic paraplegia 31 MONDO:0000001 Orphanet:101011 Orphanet:377788 disease +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:0000001 Orphanet:83639 Orphanet:377788 disease +MONDO:0012475 cone dystrophy with supernormal rod response MONDO:0000001 Orphanet:209932 Orphanet:377788 disease +MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0000001 Orphanet:101010 Orphanet:377788 disease +MONDO:0012479 congenital malabsorptive diarrhea 4 MONDO:0000001 Orphanet:83620 Orphanet:377788 disease +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type MONDO:0000001 Orphanet:168454 Orphanet:377788 disease +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0000001 Orphanet:85164 Orphanet:377788 disease +MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0000001 Orphanet:254920 Orphanet:377788 disease +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0000001 Orphanet:168566 Orphanet:377788 disease +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:0016894 Orphanet:353281 Orphanet:261956 partial deletion of the short arm of chromosome 16 +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:0019188 Orphanet:353281 Orphanet:783 Rubinstein-Taybi syndrome +MONDO:0012520 insulin-resistance syndrome type A MONDO:0000001 Orphanet:2297 Orphanet:377788 disease +MONDO:0012521 herpes simplex encephalitis MONDO:0000001 Orphanet:1930 Orphanet:377788 disease +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0000001 Orphanet:85112 Orphanet:377788 disease +MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0000001 Orphanet:254925 Orphanet:377788 disease +MONDO:0012545 neutral lipid storage myopathy MONDO:0000001 Orphanet:98908 Orphanet:377788 disease +MONDO:0012548 Kostmann syndrome MONDO:0000001 Orphanet:99749 Orphanet:377788 disease +MONDO:0012549 autosomal recessive ataxia, Beauce type MONDO:0000001 Orphanet:88644 Orphanet:377788 disease +MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0000001 Orphanet:276152 Orphanet:377788 disease +MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0000001 Orphanet:91131 Orphanet:377788 disease +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0000001 Orphanet:91130 Orphanet:377788 disease +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency MONDO:0000001 Orphanet:90023 Orphanet:377788 disease +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency MONDO:0000001 Orphanet:91135 Orphanet:377788 disease +MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:0000001 Orphanet:747 Orphanet:377788 disease +MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0000001 Orphanet:264675 Orphanet:377788 disease +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0000001 Orphanet:440402 Orphanet:377788 disease +MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0000001 Orphanet:228366 Orphanet:377788 disease +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 Orphanet:216828 Orphanet:666 osteogenesis imperfecta +MONDO:0012593 brain-lung-thyroid syndrome MONDO:0000001 Orphanet:209905 Orphanet:377788 disease +MONDO:0012594 complement factor I deficiency MONDO:0000001 Orphanet:200418 Orphanet:377788 disease +MONDO:0012605 isolated microphthalmia 5 MONDO:0000001 Orphanet:251279 Orphanet:377788 disease +MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0000001 Orphanet:206580 Orphanet:377788 disease +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0000001 Orphanet:500533 Orphanet:377788 disease +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0000001 Orphanet:137898 Orphanet:377788 disease +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0000001 Orphanet:99901 Orphanet:377788 disease +MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0000001 Orphanet:95428 Orphanet:377788 disease +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0000001 Orphanet:263508 Orphanet:377788 disease +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0000001 Orphanet:209951 Orphanet:377788 disease +MONDO:0012640 Charcot-Marie-Tooth disease type 4J MONDO:0000001 Orphanet:139515 Orphanet:377788 disease +MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0000001 Orphanet:171622 Orphanet:377788 disease +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:79159 Orphanet:377788 disease +MONDO:0012650 Cernunnos-XLF deficiency MONDO:0000001 Orphanet:169079 Orphanet:377788 disease +MONDO:0012651 spastic ataxia 2 MONDO:0000001 Orphanet:397946 Orphanet:377788 disease +MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0000001 Orphanet:206549 Orphanet:377788 disease +MONDO:0012664 spastic ataxia 3 MONDO:0000001 Orphanet:314603 Orphanet:377788 disease +MONDO:0012669 Legius syndrome MONDO:0021060 Orphanet:137605 Orphanet:536391 RASopathy +MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0000001 Orphanet:199247 Orphanet:377788 disease +MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:0017198 Orphanet:210110 Orphanet:2781 osteopetrosis +MONDO:0012682 immunodeficiency 35 MONDO:0000001 Orphanet:331226 Orphanet:377788 disease +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0000001 Orphanet:137625 Orphanet:377788 disease +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0000001 Orphanet:206554 Orphanet:377788 disease +MONDO:0012703 lissencephaly due to TUBA1A mutation MONDO:0018838 Orphanet:171680 Orphanet:48471 lissencephaly spectrum disorders +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0000001 Orphanet:289377 Orphanet:377788 disease +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0016191 Orphanet:289377 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type MONDO:0000001 Orphanet:163654 Orphanet:377788 disease +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia MONDO:0000001 Orphanet:137908 Orphanet:377788 disease +MONDO:0012719 combined PSAP deficiency MONDO:0000001 Orphanet:139406 Orphanet:377788 disease +MONDO:0012719 combined PSAP deficiency MONDO:0019255 Orphanet:139406 Orphanet:79225 sphingolipidosis +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0000001 Orphanet:263516 Orphanet:377788 disease +MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0000001 Orphanet:247868 Orphanet:377788 disease +MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0017953 Orphanet:247868 Orphanet:324924 hereditary periodic fever syndrome +MONDO:0012725 lipoprotein glomerulopathy MONDO:0000001 Orphanet:329481 Orphanet:377788 disease +MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:0000001 Orphanet:73229 Orphanet:377788 disease +MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0000001 Orphanet:2331 Orphanet:377788 disease +MONDO:0012733 autosomal recessive bestrophinopathy MONDO:0000001 Orphanet:139455 Orphanet:377788 disease +MONDO:0012735 Temple-Baraitser syndrome MONDO:0000001 Orphanet:420561 Orphanet:377788 disease +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal MONDO:0022760 Orphanet:261330 Orphanet:262182 chromosome 22q deletion +MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0000001 Orphanet:57 Orphanet:377788 disease +MONDO:0012755 episodic ataxia type 7 MONDO:0000001 Orphanet:209970 Orphanet:377788 disease +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0000001 Orphanet:137631 Orphanet:377788 disease +MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0000001 Orphanet:171612 Orphanet:377788 disease +MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:244310 Orphanet:377788 disease +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0000001 Orphanet:139485 Orphanet:377788 disease +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0000001 Orphanet:247794 Orphanet:377788 disease +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0000001 Orphanet:139480 Orphanet:377788 disease +MONDO:0012789 dystonia 16 MONDO:0000001 Orphanet:210571 Orphanet:377788 disease +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0000001 Orphanet:1933 Orphanet:377788 disease +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0000001 Orphanet:255235 Orphanet:377788 disease +MONDO:0012794 ANE syndrome MONDO:0000001 Orphanet:157954 Orphanet:377788 disease +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency MONDO:0000001 Orphanet:103909 Orphanet:377788 disease +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000001 Orphanet:98811 Orphanet:377788 disease +MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia MONDO:0000001 Orphanet:158684 Orphanet:377788 disease +MONDO:0012809 histiocytoma, Angiomatoid fibrous MONDO:0000001 Orphanet:569164 Orphanet:377788 disease +MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0000001 Orphanet:599373 Orphanet:377788 disease +MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0015650 Orphanet:599373 Orphanet:166463 epilepsy syndrome +MONDO:0012815 Coats plus syndrome MONDO:0000001 Orphanet:313838 Orphanet:377788 disease +MONDO:0012817 Ewing sarcoma MONDO:0000001 Orphanet:319 Orphanet:377788 disease +MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0000001 Orphanet:209916 Orphanet:377788 disease +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0000001 Orphanet:183713 Orphanet:377788 disease +MONDO:0012856 Birk-Barel syndrome MONDO:0000001 Orphanet:166108 Orphanet:377788 disease +MONDO:0012858 primary CD59 deficiency MONDO:0000001 Orphanet:169464 Orphanet:377788 disease +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0000001 Orphanet:178389 Orphanet:377788 disease +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0017198 Orphanet:178389 Orphanet:2781 osteopetrosis +MONDO:0012866 hereditary spastic paraplegia 35 MONDO:0000001 Orphanet:171629 Orphanet:377788 disease +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0000001 Orphanet:171617 Orphanet:377788 disease +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0000001 Orphanet:26349 Orphanet:377788 disease +MONDO:0012883 acute promyelocytic leukemia MONDO:0000001 Orphanet:520 Orphanet:377788 disease +MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0000001 Orphanet:324737 Orphanet:377788 disease +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness MONDO:0000001 Orphanet:300284 Orphanet:377788 disease +MONDO:0012895 torsion dystonia 17 MONDO:0000001 Orphanet:370103 Orphanet:377788 disease +MONDO:0012897 congenital factor XI deficiency MONDO:0000001 Orphanet:329 Orphanet:377788 disease +MONDO:0012901 inherited prekallikrein deficiency MONDO:0000001 Orphanet:749 Orphanet:377788 disease +MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:0000001 Orphanet:139441 Orphanet:377788 disease +MONDO:0012911 pseudohypoparathyroidism type 1C MONDO:0000001 Orphanet:79444 Orphanet:377788 disease +MONDO:0012912 pseudopseudohypoparathyroidism MONDO:0000001 Orphanet:79445 Orphanet:377788 disease +MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0000001 Orphanet:171863 Orphanet:377788 disease +MONDO:0012929 Compton-North congenital myopathy MONDO:0000001 Orphanet:210163 Orphanet:377788 disease +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0000001 Orphanet:331176 Orphanet:377788 disease +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency MONDO:0000001 Orphanet:86817 Orphanet:377788 disease +MONDO:0012982 episodic ataxia type 6 MONDO:0000001 Orphanet:209967 Orphanet:377788 disease +MONDO:0012984 PHARC syndrome MONDO:0000001 Orphanet:171848 Orphanet:377788 disease +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0000001 Orphanet:199337 Orphanet:377788 disease +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0000001 Orphanet:70594 Orphanet:377788 disease +MONDO:0012996 AGAT deficiency MONDO:0000001 Orphanet:35704 Orphanet:377788 disease +MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0000001 Orphanet:382 Orphanet:377788 disease +MONDO:0013000 porphyria due to ALA dehydratase deficiency MONDO:0000001 Orphanet:100924 Orphanet:377788 disease +MONDO:0013005 EAST syndrome MONDO:0000001 Orphanet:199343 Orphanet:377788 disease +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type MONDO:0000001 Orphanet:171866 Orphanet:377788 disease +MONDO:0013016 leukocyte adhesion deficiency 3 MONDO:0017198 Orphanet:99844 Orphanet:2781 osteopetrosis +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0000001 Orphanet:210115 Orphanet:377788 disease +MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO:0000001 Orphanet:70591 Orphanet:377788 disease +MONDO:0013026 subepithelial mucinous corneal dystrophy MONDO:0000001 Orphanet:98959 Orphanet:377788 disease +MONDO:0013027 posterior amorphous corneal dystrophy MONDO:0000001 Orphanet:98971 Orphanet:377788 disease +MONDO:0013028 adenosine monophosphate deaminase deficiency MONDO:0000001 Orphanet:45 Orphanet:377788 disease +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0000001 Orphanet:99849 Orphanet:377788 disease +MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0000001 Orphanet:263494 Orphanet:377788 disease +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0000001 Orphanet:357064 Orphanet:377788 disease +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0000001 Orphanet:353217 Orphanet:377788 disease +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0020070 Orphanet:353217 Orphanet:98257 neonatal epilepsy syndrome +MONDO:0013058 cystic leukoencephalopathy without megalencephaly MONDO:0000001 Orphanet:85136 Orphanet:377788 disease +MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0000001 Orphanet:199351 Orphanet:377788 disease +MONDO:0013061 myofibrillar myopathy 6 MONDO:0000001 Orphanet:199340 Orphanet:377788 disease +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0000001 Orphanet:227976 Orphanet:377788 disease +MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0000001 Orphanet:2396 Orphanet:377788 disease +MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0000001 Orphanet:538963 Orphanet:377788 disease +MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO:0000001 Orphanet:95494 Orphanet:377788 disease +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0000001 Orphanet:217382 Orphanet:377788 disease +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0000001 Orphanet:217371 Orphanet:377788 disease +MONDO:0013115 RIN2 syndrome MONDO:0016175 Orphanet:217335 Orphanet:209 cutis laxa +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0000001 Orphanet:330054 Orphanet:377788 disease +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015461 Orphanet:93270 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015461 Orphanet:93271 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0000001 Orphanet:320365 Orphanet:377788 disease +MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles MONDO:0000001 Orphanet:217407 Orphanet:377788 disease +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0000001 Orphanet:217467 Orphanet:377788 disease +MONDO:0013144 hereditary antithrombin deficiency MONDO:0000001 Orphanet:82 Orphanet:377788 disease +MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0000001 Orphanet:238455 Orphanet:377788 disease +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0000001 Orphanet:206564 Orphanet:377788 disease +MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0000001 Orphanet:206559 Orphanet:377788 disease +MONDO:0013164 beta-ureidopropionase deficiency MONDO:0000001 Orphanet:65287 Orphanet:377788 disease +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0000001 Orphanet:320396 Orphanet:377788 disease +MONDO:0013166 GABA aminotransaminase deficiency MONDO:0000001 Orphanet:2066 Orphanet:377788 disease +MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0016175 Orphanet:221145 Orphanet:209 cutis laxa +MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0000001 Orphanet:760 Orphanet:377788 disease +MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0000001 Orphanet:363992 Orphanet:377788 disease +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:0000001 Orphanet:34520 Orphanet:377788 disease +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0000001 Orphanet:157973 Orphanet:377788 disease +MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0000001 Orphanet:320401 Orphanet:377788 disease +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0000001 Orphanet:92050 Orphanet:377788 disease +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0000001 Orphanet:309854 Orphanet:377788 disease +MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N MONDO:0000001 Orphanet:228174 Orphanet:377788 disease +MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0000001 Orphanet:399096 Orphanet:377788 disease +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0019694 Orphanet:401979 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0000001 Orphanet:221139 Orphanet:377788 disease +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:0000001 Orphanet:465 Orphanet:377788 disease +MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia MONDO:0000001 Orphanet:228387 Orphanet:377788 disease +MONDO:0013229 hot water reflex epilepsy MONDO:0000001 Orphanet:166412 Orphanet:377788 disease +MONDO:0013229 hot water reflex epilepsy MONDO:0017768 Orphanet:166412 Orphanet:310 reflex epilepsy +MONDO:0013232 brachydactylous dwarfism, Mseleni type MONDO:0000001 Orphanet:2619 Orphanet:377788 disease +MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type MONDO:0000001 Orphanet:99642 Orphanet:377788 disease +MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0000001 Orphanet:320355 Orphanet:377788 disease +MONDO:0013241 spinocerebellar ataxia type 30 MONDO:0000001 Orphanet:211017 Orphanet:377788 disease +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0000001 Orphanet:228426 Orphanet:377788 disease +MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency MONDO:0000001 Orphanet:712 Orphanet:377788 disease +MONDO:0013276 Reynolds syndrome MONDO:0000001 Orphanet:779 Orphanet:377788 disease +MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0000001 Orphanet:263501 Orphanet:377788 disease +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0000001 Orphanet:60 Orphanet:377788 disease +MONDO:0013291 glycogen storage disease XV MONDO:0000001 Orphanet:263297 Orphanet:377788 disease +MONDO:0013291 glycogen storage disease XV MONDO:0002412 Orphanet:263297 Orphanet:79201 disorder of glycogen metabolism +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement MONDO:0000001 Orphanet:168953 Orphanet:377788 disease +MONDO:0013301 aromatase deficiency MONDO:0000001 Orphanet:91 Orphanet:377788 disease +MONDO:0013306 combined oxidative phosphorylation defect type 7 MONDO:0000001 Orphanet:254930 Orphanet:377788 disease +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0000001 Orphanet:95699 Orphanet:377788 disease +MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome MONDO:0019287 Orphanet:247827 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0013316 occult macular dystrophy MONDO:0000001 Orphanet:247834 Orphanet:377788 disease +MONDO:0013317 torsade-de-pointes syndrome with short coupling interval MONDO:0000001 Orphanet:51084 Orphanet:377788 disease +MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0000001 Orphanet:263487 Orphanet:377788 disease +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0000001 Orphanet:254334 Orphanet:377788 disease +MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0000001 Orphanet:306511 Orphanet:377788 disease +MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0000001 Orphanet:280071 Orphanet:377788 disease +MONDO:0013354 spastic ataxia 4 MONDO:0000001 Orphanet:254343 Orphanet:377788 disease +MONDO:0013355 congenital dyserythropoietic anemia type 4 MONDO:0000001 Orphanet:293825 Orphanet:377788 disease +MONDO:0013359 familial hyperaldosteronism type III MONDO:0000001 Orphanet:251274 Orphanet:377788 disease +MONDO:0013361 congenital prothrombin deficiency MONDO:0000001 Orphanet:325 Orphanet:377788 disease +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0000001 Orphanet:217396 Orphanet:377788 disease +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0017578 Orphanet:217396 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0013387 developmental and epileptic encephalopathy, 7 MONDO:0000001 Orphanet:439218 Orphanet:377788 disease +MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:0000001 Orphanet:254361 Orphanet:377788 disease +MONDO:0013391 sterol carrier protein 2 deficiency MONDO:0000001 Orphanet:163684 Orphanet:377788 disease +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 MONDO:0000001 Orphanet:284289 Orphanet:377788 disease +MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0000001 Orphanet:168558 Orphanet:377788 disease +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0000001 Orphanet:88618 Orphanet:377788 disease +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0019222 Orphanet:88618 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0013408 FADD-related immunodeficiency MONDO:0000001 Orphanet:306550 Orphanet:377788 disease +MONDO:0013417 complement component 3 deficiency MONDO:0000001 Orphanet:280133 Orphanet:377788 disease +MONDO:0013417 complement component 3 deficiency MONDO:0003832 Orphanet:280133 Orphanet:459345 complement deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency MONDO:0000001 Orphanet:331187 Orphanet:377788 disease +MONDO:0013423 immunodeficiency due to MASP-2 deficiency MONDO:0003832 Orphanet:331187 Orphanet:459345 complement deficiency +MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0000001 Orphanet:284984 Orphanet:377788 disease +MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0017310 Orphanet:284984 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0013427 immunodeficiency 31B MONDO:0000001 Orphanet:391311 Orphanet:377788 disease +MONDO:0013433 primary sclerosing cholangitis MONDO:0000001 Orphanet:171 Orphanet:377788 disease +MONDO:0013439 congenital bile acid synthesis defect 3 MONDO:0000001 Orphanet:79302 Orphanet:377788 disease +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0000001 Orphanet:280333 Orphanet:377788 disease +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0000001 Orphanet:404463 Orphanet:377788 disease +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease MONDO:0000001 Orphanet:319651 Orphanet:377788 disease +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0000001 Orphanet:363694 Orphanet:377788 disease +MONDO:0013464 episodic ataxia type 5 MONDO:0000001 Orphanet:211067 Orphanet:377788 disease +MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO:0000001 Orphanet:331190 Orphanet:377788 disease +MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO:0003832 Orphanet:331190 Orphanet:459345 complement deficiency +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0000001 Orphanet:280553 Orphanet:377788 disease +MONDO:0013478 PLIN1-related familial partial lipodystrophy MONDO:0000001 Orphanet:280356 Orphanet:377788 disease +MONDO:0013485 spinocerebellar ataxia type 35 MONDO:0000001 Orphanet:276193 Orphanet:377788 disease +MONDO:0013486 spinocerebellar ataxia type 32 MONDO:0000001 Orphanet:276183 Orphanet:377788 disease +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency MONDO:0000001 Orphanet:169467 Orphanet:377788 disease +MONDO:0013512 hemoglobin H disease MONDO:0011399 Orphanet:93616 Orphanet:846 alpha thalassemia spectrum +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0015333 Orphanet:280576 Orphanet:139033 progeroid syndrome +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0019303 Orphanet:280576 Orphanet:79389 premature aging syndrome +MONDO:0013526 progressive myoclonic epilepsy type 6 MONDO:0000001 Orphanet:280620 Orphanet:377788 disease +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency MONDO:0000001 Orphanet:140905 Orphanet:377788 disease +MONDO:0013536 heme oxygenase 1 deficiency MONDO:0000001 Orphanet:562509 Orphanet:377788 disease +MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome MONDO:0000001 Orphanet:79507 Orphanet:377788 disease +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0000001 Orphanet:300570 Orphanet:377788 disease +MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0000001 Orphanet:1194 Orphanet:377788 disease +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement MONDO:0000001 Orphanet:63273 Orphanet:377788 disease +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0015159 Orphanet:280633 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly MONDO:0015461 Orphanet:498497 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0013570 combined oxidative phosphorylation defect type 8 MONDO:0000001 Orphanet:319504 Orphanet:377788 disease +MONDO:0013571 acatalasia MONDO:0000001 Orphanet:926 Orphanet:377788 disease +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0000001 Orphanet:183675 Orphanet:377788 disease +MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency MONDO:0000001 Orphanet:289307 Orphanet:377788 disease +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0000001 Orphanet:456318 Orphanet:377788 disease +MONDO:0013594 spinocerebellar ataxia type 36 MONDO:0000001 Orphanet:276198 Orphanet:377788 disease +MONDO:0013595 hyperbiliverdinemia MONDO:0000001 Orphanet:276405 Orphanet:377788 disease +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0000001 Orphanet:391487 Orphanet:377788 disease +MONDO:0013607 monocytopenia with susceptibility to infections MONDO:0000001 Orphanet:228423 Orphanet:377788 disease +MONDO:0013626 psoriasis 14, pustular MONDO:0000001 Orphanet:163931 Orphanet:377788 disease +MONDO:0013626 psoriasis 14, pustular MONDO:0000001 Orphanet:404546 Orphanet:377788 disease +MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O MONDO:0000001 Orphanet:284232 Orphanet:377788 disease +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0000001 Orphanet:284271 Orphanet:377788 disease +MONDO:0013648 familial progressive hyperpigmentation MONDO:0000001 Orphanet:79146 Orphanet:377788 disease +MONDO:0013656 intellectual disability, autosomal dominant 9 MONDO:0000001 Orphanet:662367 Orphanet:377788 disease +MONDO:0013661 combined malonic and methylmalonic acidemia MONDO:0000001 Orphanet:289504 Orphanet:377788 disease +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0000001 Orphanet:443087 Orphanet:377788 disease +MONDO:0013673 Wolfram-like syndrome MONDO:0000001 Orphanet:411590 Orphanet:377788 disease +MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:0000001 Orphanet:289560 Orphanet:377788 disease +MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 MONDO:0000001 Orphanet:401874 Orphanet:377788 disease +MONDO:0013678 EDICT syndrome MONDO:0000001 Orphanet:293936 Orphanet:377788 disease +MONDO:0013686 distal myopathy, Tateyama type MONDO:0000001 Orphanet:488650 Orphanet:377788 disease +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0000001 Orphanet:284282 Orphanet:377788 disease +MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0000001 Orphanet:79150 Orphanet:377788 disease +MONDO:0013692 BAP1-related tumor predisposition syndrome MONDO:0000001 Orphanet:289539 Orphanet:377788 disease +MONDO:0013700 pancreatic triacylglycerol lipase deficiency MONDO:0000001 Orphanet:309031 Orphanet:377788 disease +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0000001 Orphanet:397744 Orphanet:377788 disease +MONDO:0013730 graft versus host disease MONDO:0000001 Orphanet:39812 Orphanet:377788 disease +MONDO:0013731 MEGF10-related myopathy MONDO:0000001 Orphanet:439212 Orphanet:377788 disease +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0000001 Orphanet:320391 Orphanet:377788 disease +MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0000001 Orphanet:300345 Orphanet:377788 disease +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0000001 Orphanet:300319 Orphanet:377788 disease +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0000001 Orphanet:99941 Orphanet:377788 disease +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0000001 Orphanet:93114 Orphanet:377788 disease +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0000001 Orphanet:293822 Orphanet:377788 disease +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0015356 Orphanet:293822 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0000001 Orphanet:352333 Orphanet:377788 disease +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0000001 Orphanet:293955 Orphanet:377788 disease +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0017578 Orphanet:293955 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0013762 lipoic acid synthetase deficiency MONDO:0000001 Orphanet:401859 Orphanet:377788 disease +MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0000001 Orphanet:300359 Orphanet:377788 disease +MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0000001 Orphanet:268114 Orphanet:377788 disease +MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0000001 Orphanet:300293 Orphanet:377788 disease +MONDO:0013772 Huppke-Brendel syndrome MONDO:0000001 Orphanet:300313 Orphanet:377788 disease +MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0000001 Orphanet:436169 Orphanet:377788 disease +MONDO:0013776 spastic ataxia 5 MONDO:0000001 Orphanet:313772 Orphanet:377788 disease +MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0000001 Orphanet:300536 Orphanet:377788 disease +MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0000001 Orphanet:658540 Orphanet:377788 disease +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0000001 Orphanet:313850 Orphanet:377788 disease +MONDO:0013803 leukoencephalopathy with calcifications and cysts MONDO:0000001 Orphanet:542310 Orphanet:377788 disease +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0000001 Orphanet:313846 Orphanet:377788 disease +MONDO:0013808 Maffucci syndrome MONDO:0000001 Orphanet:163634 Orphanet:377788 disease +MONDO:0013808 Maffucci syndrome MONDO:0019060 Orphanet:163634 Orphanet:68411 bone neoplasm +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0000001 Orphanet:464443 Orphanet:377788 disease +MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000001 Orphanet:319509 Orphanet:377788 disease +MONDO:0013813 dystonia 21 MONDO:0000001 Orphanet:306734 Orphanet:377788 disease +MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0000001 Orphanet:313855 Orphanet:377788 disease +MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0019698 Orphanet:313855 Orphanet:93439 bent bone dysplasia +MONDO:0013825 congenital diarrhea 6 MONDO:0000001 Orphanet:314373 Orphanet:377788 disease +MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0000001 Orphanet:280406 Orphanet:377788 disease +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0000001 Orphanet:254898 Orphanet:377788 disease +MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 MONDO:0000001 Orphanet:314381 Orphanet:377788 disease +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0000001 Orphanet:319678 Orphanet:377788 disease +MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency MONDO:0000001 Orphanet:314376 Orphanet:377788 disease +MONDO:0013851 autosomal dominant aplasia and myelodysplasia MONDO:0000001 Orphanet:314399 Orphanet:377788 disease +MONDO:0013860 idiopathic membranous glomerulonephritis MONDO:0000001 Orphanet:97560 Orphanet:377788 disease +MONDO:0013860 idiopathic membranous glomerulonephritis MONDO:0019722 Orphanet:97560 Orphanet:93548 glomerular disorder +MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0000001 Orphanet:445018 Orphanet:377788 disease +MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0000001 Orphanet:314637 Orphanet:377788 disease +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0000001 Orphanet:314629 Orphanet:377788 disease +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0016295 Orphanet:314629 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0000001 Orphanet:976 Orphanet:377788 disease +MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0000001 Orphanet:314667 Orphanet:377788 disease +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0000001 Orphanet:352328 Orphanet:377788 disease +MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0000001 Orphanet:447784 Orphanet:377788 disease +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0000001 Orphanet:306504 Orphanet:377788 disease +MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0000001 Orphanet:314647 Orphanet:377788 disease +MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0000001 Orphanet:319160 Orphanet:377788 disease +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0000001 Orphanet:314394 Orphanet:377788 disease +MONDO:0013898 karyomegalic interstitial nephritis MONDO:0000001 Orphanet:401996 Orphanet:377788 disease +MONDO:0013928 dystonia 23 MONDO:0000001 Orphanet:420492 Orphanet:377788 disease +MONDO:0013934 combined immunodeficiency due to STK4 deficiency MONDO:0000001 Orphanet:314689 Orphanet:377788 disease +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:99646 Orphanet:377788 disease +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:0000001 Orphanet:324530 Orphanet:377788 disease +MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0000001 Orphanet:314485 Orphanet:377788 disease +MONDO:0013959 Charcot-Marie-Tooth disease type 4F MONDO:0000001 Orphanet:99952 Orphanet:377788 disease +MONDO:0013960 sinoatrial node dysfunction and deafness MONDO:0000001 Orphanet:324321 Orphanet:377788 disease +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0000001 Orphanet:319199 Orphanet:377788 disease +MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0000001 Orphanet:319646 Orphanet:377788 disease +MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0000001 Orphanet:324535 Orphanet:377788 disease +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0000001 Orphanet:308410 Orphanet:377788 disease +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0000001 Orphanet:314051 Orphanet:377788 disease +MONDO:0013977 combined oxidative phosphorylation defect type 13 MONDO:0000001 Orphanet:319514 Orphanet:377788 disease +MONDO:0013981 myoclonus, familial MONDO:0000001 Orphanet:319189 Orphanet:377788 disease +MONDO:0013986 combined oxidative phosphorylation defect type 14 MONDO:0000001 Orphanet:319519 Orphanet:377788 disease +MONDO:0013987 combined oxidative phosphorylation defect type 15 MONDO:0000001 Orphanet:319524 Orphanet:377788 disease +MONDO:0013996 focal facial dermal dysplasia type II MONDO:0018363 Orphanet:398173 Orphanet:398166 focal facial dermal dysplasia +MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0000001 Orphanet:313800 Orphanet:377788 disease +MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q MONDO:0000001 Orphanet:329258 Orphanet:377788 disease +MONDO:0014013 maternal riboflavin deficiency MONDO:0000001 Orphanet:411712 Orphanet:377788 disease +MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0000001 Orphanet:412189 Orphanet:377788 disease +MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0000001 Orphanet:320411 Orphanet:377788 disease +MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0000001 Orphanet:320385 Orphanet:377788 disease +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0000001 Orphanet:320380 Orphanet:377788 disease +MONDO:0014019 dystonia 24 MONDO:0000001 Orphanet:420485 Orphanet:377788 disease +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0000001 Orphanet:320375 Orphanet:377788 disease +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0000001 Orphanet:329178 Orphanet:377788 disease +MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0000001 Orphanet:320370 Orphanet:377788 disease +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0000001 Orphanet:276435 Orphanet:377788 disease +MONDO:0014028 distal arthrogryposis type 5D MONDO:0000001 Orphanet:329457 Orphanet:377788 disease +MONDO:0014033 dystonia 25 MONDO:0000001 Orphanet:329466 Orphanet:377788 disease +MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:0000001 Orphanet:363686 Orphanet:377788 disease +MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0000001 Orphanet:352447 Orphanet:377788 disease +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0000001 Orphanet:352712 Orphanet:377788 disease +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO:0000001 Orphanet:352718 Orphanet:377788 disease +MONDO:0014061 Steel syndrome MONDO:0000001 Orphanet:438117 Orphanet:377788 disease +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0000001 Orphanet:352470 Orphanet:377788 disease +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0009637 Orphanet:352470 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0014070 oculocutaneous albinism type 7 MONDO:0000001 Orphanet:352745 Orphanet:377788 disease +MONDO:0014072 D,L-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:356978 Orphanet:377788 disease +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0000001 Orphanet:352670 Orphanet:377788 disease +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0000001 Orphanet:352682 Orphanet:377788 disease +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0000001 Orphanet:357237 Orphanet:377788 disease +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0000001 Orphanet:357329 Orphanet:377788 disease +MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0000001 Orphanet:352662 Orphanet:377788 disease +MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0000001 Orphanet:300298 Orphanet:377788 disease +MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0000001 Orphanet:435651 Orphanet:377788 disease +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity MONDO:0000001 Orphanet:363412 Orphanet:377788 disease +MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0000001 Orphanet:363981 Orphanet:377788 disease +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0000001 Orphanet:369852 Orphanet:377788 disease +MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0000001 Orphanet:363528 Orphanet:377788 disease +MONDO:0014127 oculocutaneous albinism type 5 MONDO:0000001 Orphanet:370091 Orphanet:377788 disease +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0000001 Orphanet:363523 Orphanet:377788 disease +MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0000001 Orphanet:363424 Orphanet:377788 disease +MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0000001 Orphanet:363623 Orphanet:377788 disease +MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0000001 Orphanet:369840 Orphanet:377788 disease +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0000001 Orphanet:352709 Orphanet:377788 disease +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0016295 Orphanet:352709 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0014148 estrogen resistance syndrome MONDO:0000001 Orphanet:785 Orphanet:377788 disease +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0000001 Orphanet:363409 Orphanet:377788 disease +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0000001 Orphanet:369867 Orphanet:377788 disease +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0000001 Orphanet:363649 Orphanet:377788 disease +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 MONDO:0000001 Orphanet:352403 Orphanet:377788 disease +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0000001 Orphanet:397959 Orphanet:377788 disease +MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0000001 Orphanet:352563 Orphanet:377788 disease +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0015159 Orphanet:369837 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency MONDO:0000001 Orphanet:228003 Orphanet:377788 disease +MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0000001 Orphanet:371364 Orphanet:377788 disease +MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency MONDO:0000001 Orphanet:412181 Orphanet:377788 disease +MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0000001 Orphanet:369913 Orphanet:377788 disease +MONDO:0014195 microcornea-myopic chorioretinal atrophy MONDO:0000001 Orphanet:369970 Orphanet:377788 disease +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0000001 Orphanet:397964 Orphanet:377788 disease +MONDO:0014198 mitochondrial DNA depletion syndrome 13 MONDO:0000001 Orphanet:369897 Orphanet:377788 disease +MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0000001 Orphanet:369929 Orphanet:377788 disease +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:0000001 Orphanet:352577 Orphanet:377788 disease +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0000001 Orphanet:440427 Orphanet:377788 disease +MONDO:0014208 Charcot-Marie-Tooth disease type 2R MONDO:0000001 Orphanet:397968 Orphanet:377788 disease +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0000001 Orphanet:352654 Orphanet:377788 disease +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0024237 Orphanet:352654 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome MONDO:0000001 Orphanet:356996 Orphanet:377788 disease +MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO:0000001 Orphanet:363611 Orphanet:377788 disease +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0000001 Orphanet:369992 Orphanet:377788 disease +MONDO:0014221 triosephosphate isomerase deficiency MONDO:0000001 Orphanet:868 Orphanet:377788 disease +MONDO:0014224 developmental delay with autism spectrum disorder and gait instability MONDO:0000001 Orphanet:329195 Orphanet:377788 disease +MONDO:0014225 hemochromatosis type 5 MONDO:0000001 Orphanet:247790 Orphanet:377788 disease +MONDO:0014225 hemochromatosis type 5 MONDO:0017763 Orphanet:247790 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:324561 Orphanet:377788 disease +MONDO:0014234 reticulate acropigmentation of Kitamura MONDO:0000001 Orphanet:178307 Orphanet:377788 disease +MONDO:0014243 Schaaf-Yang syndrome MONDO:0000001 Orphanet:398069 Orphanet:377788 disease +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 MONDO:0000001 Orphanet:391397 Orphanet:377788 disease +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0000001 Orphanet:370943 Orphanet:377788 disease +MONDO:0014250 familial hyperprolactinemia MONDO:0000001 Orphanet:397685 Orphanet:377788 disease +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0000001 Orphanet:391376 Orphanet:377788 disease +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0000001 Orphanet:391348 Orphanet:377788 disease +MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0000001 Orphanet:397787 Orphanet:377788 disease +MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0000001 Orphanet:431149 Orphanet:377788 disease +MONDO:0014269 combined oxidative phosphorylation deficiency 19 MONDO:0000001 Orphanet:397593 Orphanet:377788 disease +MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0000001 Orphanet:370921 Orphanet:377788 disease +MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0000001 Orphanet:370924 Orphanet:377788 disease +MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0000001 Orphanet:140966 Orphanet:377788 disease +MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0000001 Orphanet:397951 Orphanet:377788 disease +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0000001 Orphanet:169082 Orphanet:377788 disease +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0000001 Orphanet:401849 Orphanet:377788 disease +MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0000001 Orphanet:397725 Orphanet:377788 disease +MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0000001 Orphanet:363540 Orphanet:377788 disease +MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0000001 Orphanet:431329 Orphanet:377788 disease +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0000001 Orphanet:401768 Orphanet:377788 disease +MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0000001 Orphanet:401785 Orphanet:377788 disease +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0000001 Orphanet:401810 Orphanet:377788 disease +MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0000001 Orphanet:401780 Orphanet:377788 disease +MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0000001 Orphanet:401805 Orphanet:377788 disease +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0000001 Orphanet:404553 Orphanet:377788 disease +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0700264 Orphanet:404553 Orphanet:477647 type 1 interferonopathy +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0957408 Orphanet:404553 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0000001 Orphanet:221043 Orphanet:377788 disease +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0000001 Orphanet:404499 Orphanet:377788 disease +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0000001 Orphanet:437552 Orphanet:377788 disease +MONDO:0014317 pancytopenia-developmental delay syndrome MONDO:0000001 Orphanet:401764 Orphanet:377788 disease +MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0000001 Orphanet:401777 Orphanet:377788 disease +MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse MONDO:0000001 Orphanet:402003 Orphanet:377788 disease +MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0000001 Orphanet:401945 Orphanet:377788 disease +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0000001 Orphanet:401948 Orphanet:377788 disease +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0004739 Orphanet:401948 Orphanet:79167 urea cycle disorder +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0000001 Orphanet:280142 Orphanet:377788 disease +MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0000001 Orphanet:477661 Orphanet:377788 disease +MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0000001 Orphanet:412057 Orphanet:377788 disease +MONDO:0014342 female infertility due to zona pellucida defect MONDO:0000001 Orphanet:404466 Orphanet:377788 disease +MONDO:0014353 immunodeficiency 23 MONDO:0000001 Orphanet:443811 Orphanet:377788 disease +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0000001 Orphanet:476096 Orphanet:377788 disease +MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0000001 Orphanet:352490 Orphanet:377788 disease +MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0000001 Orphanet:329242 Orphanet:377788 disease +MONDO:0014386 platelet-type bleeding disorder 18 MONDO:0000001 Orphanet:420566 Orphanet:377788 disease +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0000001 Orphanet:397937 Orphanet:377788 disease +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0000001 Orphanet:420573 Orphanet:377788 disease +MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0000001 Orphanet:420728 Orphanet:377788 disease +MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0000001 Orphanet:420733 Orphanet:377788 disease +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0000001 Orphanet:438134 Orphanet:377788 disease +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0024237 Orphanet:438134 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0000001 Orphanet:329191 Orphanet:377788 disease +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy MONDO:0000001 Orphanet:363400 Orphanet:377788 disease +MONDO:0014403 short stature due to GHSR deficiency MONDO:0000001 Orphanet:314811 Orphanet:377788 disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0000001 Orphanet:425120 Orphanet:377788 disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0700264 Orphanet:425120 Orphanet:477647 type 1 interferonopathy +MONDO:0014410 spinocerebellar ataxia type 37 MONDO:0000001 Orphanet:363710 Orphanet:377788 disease +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0000001 Orphanet:438159 Orphanet:377788 disease +MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0000001 Orphanet:423296 Orphanet:377788 disease +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0000001 Orphanet:370022 Orphanet:377788 disease +MONDO:0014420 short stature due to primary acid-labile subunit deficiency MONDO:0000001 Orphanet:140941 Orphanet:377788 disease +MONDO:0014421 glucocorticoid resistance MONDO:0000001 Orphanet:786 Orphanet:377788 disease +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0000001 Orphanet:317425 Orphanet:377788 disease +MONDO:0014431 LIPE-related familial partial lipodystrophy MONDO:0000001 Orphanet:435660 Orphanet:377788 disease +MONDO:0014449 congenital analbuminemia MONDO:0000001 Orphanet:86816 Orphanet:377788 disease +MONDO:0014449 congenital analbuminemia MONDO:0005570 Orphanet:86816 Orphanet:97992 hematologic disorder +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0000001 Orphanet:436174 Orphanet:377788 disease +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0000001 Orphanet:423384 Orphanet:377788 disease +MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0000001 Orphanet:423454 Orphanet:377788 disease +MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0000001 Orphanet:431361 Orphanet:377788 disease +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0000001 Orphanet:435998 Orphanet:377788 disease +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0000001 Orphanet:254913 Orphanet:377788 disease +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0000001 Orphanet:436166 Orphanet:377788 disease +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0000001 Orphanet:352479 Orphanet:377788 disease +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0016155 Orphanet:352479 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +MONDO:0014475 spinocerebellar ataxia type 40 MONDO:0000001 Orphanet:423275 Orphanet:377788 disease +MONDO:0014476 episodic ataxia type 8 MONDO:0000001 Orphanet:401953 Orphanet:377788 disease +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MONDO:0000001 Orphanet:397758 Orphanet:377788 disease +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0000001 Orphanet:369861 Orphanet:377788 disease +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0000001 Orphanet:445110 Orphanet:377788 disease +MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency MONDO:0000001 Orphanet:438075 Orphanet:377788 disease +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:420686 Orphanet:377788 disease +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0000001 Orphanet:436159 Orphanet:377788 disease +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0000001 Orphanet:436245 Orphanet:377788 disease +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0000001 Orphanet:453533 Orphanet:377788 disease +MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0000001 Orphanet:576349 Orphanet:377788 disease +MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0017953 Orphanet:576349 Orphanet:324924 hereditary periodic fever syndrome +MONDO:0014500 atrial conduction disease MONDO:0000001 Orphanet:436242 Orphanet:377788 disease +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0000001 Orphanet:453521 Orphanet:377788 disease +MONDO:0014506 hypomyelinating leukodystrophy 9 MONDO:0000001 Orphanet:438114 Orphanet:377788 disease +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0000001 Orphanet:438178 Orphanet:377788 disease +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0017986 Orphanet:438178 Orphanet:3276 disorder of plasmalogens biosynthesis +MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S MONDO:0000001 Orphanet:443073 Orphanet:377788 disease +MONDO:0014518 platelet-type bleeding disorder 19 MONDO:0000001 Orphanet:438207 Orphanet:377788 disease +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0000001 Orphanet:444048 Orphanet:377788 disease +MONDO:0014521 progressive myoclonic epilepsy type 7 MONDO:0000001 Orphanet:435438 Orphanet:377788 disease +MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0000001 Orphanet:445062 Orphanet:377788 disease +MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0000001 Orphanet:444013 Orphanet:377788 disease +MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0000001 Orphanet:456369 Orphanet:377788 disease +MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0002412 Orphanet:456369 Orphanet:79201 disorder of glycogen metabolism +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0000001 Orphanet:435953 Orphanet:377788 disease +MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0000001 Orphanet:435988 Orphanet:377788 disease +MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0000001 Orphanet:457050 Orphanet:377788 disease +MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO:0000001 Orphanet:424027 Orphanet:377788 disease +MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload MONDO:0000001 Orphanet:88635 Orphanet:377788 disease +MONDO:0014547 combined oxidative phosphorylation defect type 24 MONDO:0000001 Orphanet:444458 Orphanet:377788 disease +MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0000001 Orphanet:459033 Orphanet:377788 disease +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0000001 Orphanet:457212 Orphanet:377788 disease +MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0000001 Orphanet:445038 Orphanet:377788 disease +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0000001 Orphanet:457185 Orphanet:377788 disease +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0000001 Orphanet:653880 Orphanet:377788 disease +MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0000001 Orphanet:397735 Orphanet:377788 disease +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0000001 Orphanet:477673 Orphanet:377788 disease +MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0000001 Orphanet:444099 Orphanet:377788 disease +MONDO:0014572 Lichtenstein-Knorr syndrome MONDO:0000001 Orphanet:448251 Orphanet:377788 disease +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0000001 Orphanet:444138 Orphanet:377788 disease +MONDO:0014576 lipoyl transferase 1 deficiency MONDO:0000001 Orphanet:401862 Orphanet:377788 disease +MONDO:0014597 immunodeficiency 39 MONDO:0000001 Orphanet:574918 Orphanet:377788 disease +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0000001 Orphanet:468678 Orphanet:377788 disease +MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0000001 Orphanet:457406 Orphanet:377788 disease +MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0024237 Orphanet:457406 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma MONDO:0000001 Orphanet:448264 Orphanet:377788 disease +MONDO:0014626 spinocerebellar ataxia type 41 MONDO:0000001 Orphanet:458798 Orphanet:377788 disease +MONDO:0014627 dystonia 27 MONDO:0000001 Orphanet:464440 Orphanet:377788 disease +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0000001 Orphanet:444092 Orphanet:377788 disease +MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0000001 Orphanet:447954 Orphanet:377788 disease +MONDO:0014637 DOCK2 deficiency MONDO:0000001 Orphanet:447737 Orphanet:377788 disease +MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0000001 Orphanet:468661 Orphanet:377788 disease +MONDO:0014645 BENTA disease MONDO:0000001 Orphanet:464336 Orphanet:377788 disease +MONDO:0014647 developmental and epileptic encephalopathy, 50 MONDO:0000001 Orphanet:448010 Orphanet:377788 disease +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0000001 Orphanet:85165 Orphanet:377788 disease +MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0000001 Orphanet:478664 Orphanet:377788 disease +MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0000001 Orphanet:447964 Orphanet:377788 disease +MONDO:0014684 combined oxidative phosphorylation defect type 26 MONDO:0000001 Orphanet:477684 Orphanet:377788 disease +MONDO:0014685 progressive myoclonic epilepsy type 9 MONDO:0000001 Orphanet:457265 Orphanet:377788 disease +MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type MONDO:0000001 Orphanet:459051 Orphanet:377788 disease +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0000001 Orphanet:447760 Orphanet:377788 disease +MONDO:0014707 14q32 duplication syndrome MONDO:0000001 Orphanet:488280 Orphanet:377788 disease +MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0000001 Orphanet:488333 Orphanet:377788 disease +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:0000001 Orphanet:431166 Orphanet:377788 disease +MONDO:0014717 early-onset Lafora body disease MONDO:0000001 Orphanet:324290 Orphanet:377788 disease +MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0000001 Orphanet:457375 Orphanet:377788 disease +MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0000001 Orphanet:1215 Orphanet:377788 disease +MONDO:0014722 Roifman syndrome MONDO:0000001 Orphanet:353298 Orphanet:377788 disease +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0000001 Orphanet:447997 Orphanet:377788 disease +MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0000001 Orphanet:466775 Orphanet:377788 disease +MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0000001 Orphanet:477774 Orphanet:377788 disease +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0000001 Orphanet:459056 Orphanet:377788 disease +MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0000001 Orphanet:466926 Orphanet:377788 disease +MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0000001 Orphanet:466934 Orphanet:377788 disease +MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0000001 Orphanet:391351 Orphanet:377788 disease +MONDO:0014735 Charcot-Marie-Tooth disease type 2Y MONDO:0000001 Orphanet:435387 Orphanet:377788 disease +MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z MONDO:0000001 Orphanet:466768 Orphanet:377788 disease +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:0015776 Orphanet:468717 Orphanet:177 rhizomelic chondrodysplasia punctata +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0000001 Orphanet:466794 Orphanet:377788 disease +MONDO:0014746 SLC39A8-CDG MONDO:0000001 Orphanet:468699 Orphanet:377788 disease +MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:0000001 Orphanet:488197 Orphanet:377788 disease +MONDO:0014760 TFRC-related combined immunodeficiency MONDO:0000001 Orphanet:476113 Orphanet:377788 disease +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0000001 Orphanet:464282 Orphanet:377788 disease +MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0000001 Orphanet:466784 Orphanet:377788 disease +MONDO:0014776 spinocerebellar ataxia type 42 MONDO:0000001 Orphanet:458803 Orphanet:377788 disease +MONDO:0014778 Lamb-Shaffer syndrome MONDO:0000001 Orphanet:530983 Orphanet:377788 disease +MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0000001 Orphanet:478029 Orphanet:377788 disease +MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0000001 Orphanet:476084 Orphanet:377788 disease +MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0000001 Orphanet:467176 Orphanet:377788 disease +MONDO:0014789 CCDC115-CDG MONDO:0000001 Orphanet:468684 Orphanet:377788 disease +MONDO:0014790 TMEM199-CDG MONDO:0000001 Orphanet:466703 Orphanet:377788 disease +MONDO:0014800 progressive scapulohumeroperoneal distal myopathy MONDO:0000001 Orphanet:447977 Orphanet:377788 disease +MONDO:0014803 spasticity-ataxia-gait anomalies syndrome MONDO:0000001 Orphanet:401866 Orphanet:377788 disease +MONDO:0014804 sideroblastic anemia 3 MONDO:0000001 Orphanet:255132 Orphanet:377788 disease +MONDO:0014804 sideroblastic anemia 3 MONDO:0020099 Orphanet:255132 Orphanet:98362 inherited sideroblastic anemia +MONDO:0014805 Hao-Fountain syndrome MONDO:0000001 Orphanet:643549 Orphanet:377788 disease +MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome MONDO:0000001 Orphanet:488647 Orphanet:377788 disease +MONDO:0014810 pancytopenia due to IKZF1 mutations MONDO:0000001 Orphanet:317473 Orphanet:377788 disease +MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:0015159 Orphanet:488632 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0000001 Orphanet:488594 Orphanet:377788 disease +MONDO:0014830 platelet-type bleeding disorder 20 MONDO:0000001 Orphanet:466806 Orphanet:377788 disease +MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome MONDO:0000001 Orphanet:300382 Orphanet:377788 disease +MONDO:0014832 intellectual disability, autosomal recessive 53 MONDO:0000001 Orphanet:488635 Orphanet:377788 disease +MONDO:0014837 thrombocytopenia 6 MONDO:0000001 Orphanet:480851 Orphanet:377788 disease +MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0000001 Orphanet:404493 Orphanet:377788 disease +MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0000001 Orphanet:478042 Orphanet:377788 disease +MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0000001 Orphanet:521406 Orphanet:377788 disease +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0000001 Orphanet:420702 Orphanet:377788 disease +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0000001 Orphanet:443950 Orphanet:377788 disease +MONDO:0014867 spinocerebellar ataxia 43 MONDO:0000001 Orphanet:497764 Orphanet:377788 disease +MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome MONDO:0000001 Orphanet:528091 Orphanet:377788 disease +MONDO:0014873 nevus comedonicus syndrome MONDO:0000001 Orphanet:64754 Orphanet:377788 disease +MONDO:0014875 hyperaldosteronism, familial, type IV MONDO:0000001 Orphanet:642671 Orphanet:377788 disease +MONDO:0014877 myopathy, distal, 5 MONDO:0000001 Orphanet:482601 Orphanet:377788 disease +MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0000001 Orphanet:466722 Orphanet:377788 disease +MONDO:0014888 MIRAGE syndrome MONDO:0000001 Orphanet:494433 Orphanet:377788 disease +MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0000001 Orphanet:497906 Orphanet:377788 disease +MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0024237 Orphanet:497906 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014890 PERCHING syndrome MONDO:0018431 Orphanet:603684 Orphanet:401993 cold-induced sweating syndrome - hyperthermia spectrum +MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome MONDO:0000001 Orphanet:486815 Orphanet:377788 disease +MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0000001 Orphanet:329314 Orphanet:377788 disease +MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0009637 Orphanet:329314 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0000001 Orphanet:424261 Orphanet:377788 disease +MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0000001 Orphanet:541423 Orphanet:377788 disease +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome MONDO:0000001 Orphanet:500062 Orphanet:377788 disease +MONDO:0014920 patterned macular dystrophy 3 MONDO:0000001 Orphanet:466718 Orphanet:377788 disease +MONDO:0014946 Sifrim-Hitz-Weiss syndrome MONDO:0000001 Orphanet:653712 Orphanet:377788 disease +MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome MONDO:0000001 Orphanet:468620 Orphanet:377788 disease +MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0000001 Orphanet:542306 Orphanet:377788 disease +MONDO:0014958 Harel-Yoon syndrome MONDO:0000001 Orphanet:496790 Orphanet:377788 disease +MONDO:0014969 isolated sedoheptulokinase deficiency MONDO:0000001 Orphanet:440713 Orphanet:377788 disease +MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0000001 Orphanet:513436 Orphanet:377788 disease +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0000001 Orphanet:478049 Orphanet:377788 disease +MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0000001 Orphanet:480682 Orphanet:377788 disease +MONDO:0015004 dystonia 28, childhood-onset MONDO:0000001 Orphanet:589618 Orphanet:377788 disease +MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0000001 Orphanet:508529 Orphanet:377788 disease +MONDO:0015021 hypotonia, ataxia, and delayed development syndrome MONDO:0000001 Orphanet:658843 Orphanet:377788 disease +MONDO:0015027 familial isolated hyperparathyroidism MONDO:0000001 Orphanet:99879 Orphanet:377788 disease +MONDO:0015031 extraneural perineurioma MONDO:0000001 Orphanet:100002 Orphanet:377788 disease +MONDO:0015032 intraneural perineurioma MONDO:0000001 Orphanet:100003 Orphanet:377788 disease +MONDO:0015033 ABeta amyloidosis, dutch type MONDO:0005620 Orphanet:100006 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0015049 solitary necrotic nodule of the liver MONDO:0000001 Orphanet:100035 Orphanet:377788 disease +MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema MONDO:0000001 Orphanet:100057 Orphanet:377788 disease +MONDO:0015059 progressive non-fluent aphasia MONDO:0000001 Orphanet:100070 Orphanet:377788 disease +MONDO:0015059 progressive non-fluent aphasia MONDO:0017276 Orphanet:100070 Orphanet:282 frontotemporal dementia +MONDO:0015059 progressive non-fluent aphasia MONDO:0019806 Orphanet:100070 Orphanet:95432 primary progressive aphasia +MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0018510 Orphanet:100076 Orphanet:423975 small intestine neuroendocrine neoplasm +MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0018510 Orphanet:100077 Orphanet:423975 small intestine neuroendocrine neoplasm +MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0000001 Orphanet:100078 Orphanet:377788 disease +MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0018510 Orphanet:100078 Orphanet:423975 small intestine neuroendocrine neoplasm +MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0000001 Orphanet:100079 Orphanet:377788 disease +MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0000001 Orphanet:100082 Orphanet:377788 disease +MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0018516 Orphanet:100082 Orphanet:424010 epithelial tumor of anal canal +MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0000001 Orphanet:100083 Orphanet:377788 disease +MONDO:0015071 middle ear neuroendocrine tumor MONDO:0000001 Orphanet:100084 Orphanet:377788 disease +MONDO:0015072 liver neuroendocrine carcinoma MONDO:0000001 Orphanet:100085 Orphanet:377788 disease +MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0000001 Orphanet:100086 Orphanet:377788 disease +MONDO:0015075 thyroid gland carcinoma MONDO:0015074 Orphanet:100088 Orphanet:100087 thyroid tumor +MONDO:0015082 alopecia antibody deficiency MONDO:0000001 Orphanet:1006 Orphanet:377788 disease +MONDO:0015084 FRAXF syndrome MONDO:0000001 Orphanet:100974 Orphanet:377788 disease +MONDO:0015085 bathing suit ichthyosis MONDO:0000001 Orphanet:100976 Orphanet:377788 disease +MONDO:0015096 familial hypofibrinogenemia MONDO:0018060 Orphanet:101041 Orphanet:335 congenital fibrinogen deficiency +MONDO:0015104 porphyria cutanea tarda MONDO:0000001 Orphanet:101330 Orphanet:377788 disease +MONDO:0015140 early-onset autosomal dominant Alzheimer disease MONDO:0000001 Orphanet:1020 Orphanet:377788 disease +MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent MONDO:0000001 Orphanet:102379 Orphanet:377788 disease +MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor MONDO:0000001 Orphanet:102381 Orphanet:377788 disease +MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation MONDO:0000001 Orphanet:102724 Orphanet:377788 disease +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:0000001 Orphanet:103907 Orphanet:377788 disease +MONDO:0015170 congenital sodium diarrhea MONDO:0000001 Orphanet:103908 Orphanet:377788 disease +MONDO:0015171 congenital enterocyte heparan sulfate deficiency MONDO:0000001 Orphanet:103910 Orphanet:377788 disease +MONDO:0015176 undetermined colitis MONDO:0000001 Orphanet:103920 Orphanet:377788 disease +MONDO:0015177 metaphyseal anadysplasia MONDO:0000001 Orphanet:1040 Orphanet:377788 disease +MONDO:0015200 anisakiasis MONDO:0000001 Orphanet:1070 Orphanet:377788 disease +MONDO:0015205 isolated lissencephaly type 1 without known genetic defects MONDO:0000001 Orphanet:1084 Orphanet:377788 disease +MONDO:0015229 Bardet-Biedl syndrome MONDO:0000001 Orphanet:110 Orphanet:377788 disease +MONDO:0015231 Bartter syndrome MONDO:0000001 Orphanet:112 Orphanet:377788 disease +MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0000001 Orphanet:1164 Orphanet:377788 disease +MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0100309 Orphanet:1172 Orphanet:183518 hereditary ataxia +MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0000001 Orphanet:1183 Orphanet:377788 disease +MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome MONDO:0000001 Orphanet:1217 Orphanet:377788 disease +MONDO:0015253 Diamond-Blackfan anemia MONDO:0000001 Orphanet:124 Orphanet:377788 disease +MONDO:0015254 schistosomiasis MONDO:0000001 Orphanet:1247 Orphanet:377788 disease +MONDO:0015260 diphyllobothriasis MONDO:0000001 Orphanet:128 Orphanet:377788 disease +MONDO:0015261 pseudopelade of Brocq MONDO:0000001 Orphanet:129 Orphanet:377788 disease +MONDO:0015263 Brugada syndrome MONDO:0000001 Orphanet:130 Orphanet:377788 disease +MONDO:0015264 cryptogenic organizing pneumonia MONDO:0000001 Orphanet:1302 Orphanet:377788 disease +MONDO:0015269 symmetrical thalamic calcifications MONDO:0000001 Orphanet:1314 Orphanet:377788 disease +MONDO:0015270 butyrylcholinesterase deficiency MONDO:0000001 Orphanet:132 Orphanet:377788 disease +MONDO:0015274 chronic beryllium disease MONDO:0000001 Orphanet:133 Orphanet:377788 disease +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0000001 Orphanet:1332 Orphanet:377788 disease +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0015075 Orphanet:1332 Orphanet:100088 thyroid gland carcinoma +MONDO:0015278 familial pancreatic carcinoma MONDO:0000001 Orphanet:1333 Orphanet:377788 disease +MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0000001 Orphanet:1334 Orphanet:377788 disease +MONDO:0015281 atrial standstill MONDO:0000001 Orphanet:1344 Orphanet:377788 disease +MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome MONDO:0000001 Orphanet:1345 Orphanet:377788 disease +MONDO:0015285 Carney complex MONDO:0000001 Orphanet:1359 Orphanet:377788 disease +MONDO:0015289 infectious epithelial keratitis MONDO:0000001 Orphanet:137593 Orphanet:377788 disease +MONDO:0015290 neurotrophic keratopathy MONDO:0000001 Orphanet:137596 Orphanet:377788 disease +MONDO:0015291 stromal keratitis MONDO:0000001 Orphanet:137599 Orphanet:377788 disease +MONDO:0015291 stromal keratitis MONDO:0023865 Orphanet:137599 Orphanet:519278 corneal infection +MONDO:0015292 endotheliitis MONDO:0000001 Orphanet:137602 Orphanet:377788 disease +MONDO:0015292 endotheliitis MONDO:0023865 Orphanet:137602 Orphanet:519278 corneal infection +MONDO:0015294 nephrogenic systemic fibrosis MONDO:0000001 Orphanet:137617 Orphanet:377788 disease +MONDO:0015298 pellucid marginal degeneration MONDO:0000001 Orphanet:137672 Orphanet:377788 disease +MONDO:0015299 Asherman syndrome MONDO:0000001 Orphanet:137686 Orphanet:377788 disease +MONDO:0015302 nodular cutaneous amyloidosis MONDO:0000001 Orphanet:137810 Orphanet:377788 disease +MONDO:0015303 macular amyloidosis MONDO:0000001 Orphanet:137814 Orphanet:377788 disease +MONDO:0015304 arachnoiditis MONDO:0000001 Orphanet:137817 Orphanet:377788 disease +MONDO:0015306 Lemierre syndrome MONDO:0000001 Orphanet:137839 Orphanet:377788 disease +MONDO:0015307 Madras motor neuron disease MONDO:0000001 Orphanet:137867 Orphanet:377788 disease +MONDO:0015315 neonatal brainstem dysfunction MONDO:0000001 Orphanet:137929 Orphanet:377788 disease +MONDO:0015317 laryngotracheal angioma MONDO:0000001 Orphanet:137935 Orphanet:377788 disease +MONDO:0015340 drug rash with eosinophilia and systemic symptoms MONDO:0000001 Orphanet:139402 Orphanet:377788 disease +MONDO:0015341 congenital panfollicular nevus MONDO:0000001 Orphanet:139414 Orphanet:377788 disease +MONDO:0015342 acute transverse myelitis MONDO:0000001 Orphanet:139417 Orphanet:377788 disease +MONDO:0015345 perioral myoclonia with absences MONDO:0000001 Orphanet:139426 Orphanet:377788 disease +MONDO:0015346 epilepsy with eyelid myoclonia MONDO:0000001 Orphanet:139431 Orphanet:377788 disease +MONDO:0015347 multicentric reticulohistiocytosis MONDO:0000001 Orphanet:139436 Orphanet:377788 disease +MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO:0000001 Orphanet:139444 Orphanet:377788 disease +MONDO:0015349 progressive cavitating leukoencephalopathy MONDO:0000001 Orphanet:139447 Orphanet:377788 disease +MONDO:0015351 neuropathy with hearing impairment MONDO:0000001 Orphanet:139512 Orphanet:377788 disease +MONDO:0015352 distal hereditary motor neuropathy type 2 MONDO:0000001 Orphanet:139525 Orphanet:377788 disease +MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay MONDO:0000001 Orphanet:139573 Orphanet:377788 disease +MONDO:0015355 distal hereditary motor neuropathy type 7 MONDO:0000001 Orphanet:139589 Orphanet:377788 disease +MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion MONDO:0000001 Orphanet:140286 Orphanet:377788 disease +MONDO:0015371 linear atrophoderma of Moulin MONDO:0000001 Orphanet:140933 Orphanet:377788 disease +MONDO:0015372 autosomal dominant macrothrombocytopenia MONDO:0000001 Orphanet:140957 Orphanet:377788 disease +MONDO:0015374 primary central nervous system vasculitis MONDO:0000001 Orphanet:140989 Orphanet:377788 disease +MONDO:0015392 nasal glial heterotopia MONDO:0000001 Orphanet:141112 Orphanet:377788 disease +MONDO:0015397 craniofacial microsomia MONDO:0015161 Orphanet:141132 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015403 non-involuting congenital hemangioma MONDO:0000001 Orphanet:141179 Orphanet:377788 disease +MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0000001 Orphanet:141184 Orphanet:377788 disease +MONDO:0015447 differentiated thyroid carcinoma MONDO:0000001 Orphanet:146 Orphanet:377788 disease +MONDO:0015448 mitochondrial complex III deficiency MONDO:0000001 Orphanet:1460 Orphanet:377788 disease +MONDO:0015453 Cogan syndrome MONDO:0000001 Orphanet:1467 Orphanet:377788 disease +MONDO:0015455 gonococcal conjunctivitis MONDO:0000001 Orphanet:1482 Orphanet:377788 disease +MONDO:0015459 nasopharyngeal carcinoma MONDO:0000001 Orphanet:150 Orphanet:377788 disease +MONDO:0015469 craniosynostosis MONDO:0018234 Orphanet:1531 Orphanet:364559 dysostosis +MONDO:0015471 benign focal seizures of adolescence MONDO:0000001 Orphanet:1544 Orphanet:377788 disease +MONDO:0015484 cysticercosis MONDO:0000001 Orphanet:1560 Orphanet:377788 disease +MONDO:0015487 fatal infantile encephalocardiomyopathy MONDO:0000001 Orphanet:1561 Orphanet:377788 disease +MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0000001 Orphanet:157 Orphanet:377788 disease +MONDO:0015517 common variable immunodeficiency MONDO:0000001 Orphanet:1572 Orphanet:377788 disease +MONDO:0015523 epithelioid hemangioendothelioma MONDO:0000001 Orphanet:157791 Orphanet:377788 disease +MONDO:0015524 hyperplastic polyposis syndrome MONDO:0000001 Orphanet:157798 Orphanet:377788 disease +MONDO:0015526 cold-induced sweating syndrome MONDO:0000001 Orphanet:157820 Orphanet:377788 disease +MONDO:0015528 congenital epulis MONDO:0000001 Orphanet:157826 Orphanet:377788 disease +MONDO:0015529 paroxysmal Hemicrania MONDO:0000001 Orphanet:157835 Orphanet:377788 disease +MONDO:0015532 generalized eruptive histiocytosis MONDO:0000001 Orphanet:157991 Orphanet:377788 disease +MONDO:0015533 benign cephalic histiocytosis MONDO:0000001 Orphanet:157997 Orphanet:377788 disease +MONDO:0015534 juvenile xanthogranuloma MONDO:0000001 Orphanet:158000 Orphanet:377788 disease +MONDO:0015535 xanthoma disseminatum MONDO:0000001 Orphanet:158003 Orphanet:377788 disease +MONDO:0015536 papular xanthoma MONDO:0000001 Orphanet:158008 Orphanet:377788 disease +MONDO:0015537 necrobiotic xanthogranuloma MONDO:0000001 Orphanet:158011 Orphanet:377788 disease +MONDO:0015538 indeterminate dendritic cell tumor MONDO:0000001 Orphanet:158019 Orphanet:377788 disease +MONDO:0015539 progressive nodular histiocytosis MONDO:0000001 Orphanet:158022 Orphanet:377788 disease +MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0000001 Orphanet:540 Orphanet:377788 disease +MONDO:0015548 Huntington disease-like syndrome MONDO:0024237 Orphanet:158266 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0015557 Smouldering systemic mastocytosis MONDO:0000001 Orphanet:158775 Orphanet:377788 disease +MONDO:0015557 Smouldering systemic mastocytosis MONDO:0016586 Orphanet:158775 Orphanet:2467 systemic mastocytosis +MONDO:0015558 isolated bone marrow mastocytosis MONDO:0000001 Orphanet:158778 Orphanet:377788 disease +MONDO:0015558 isolated bone marrow mastocytosis MONDO:0016586 Orphanet:158778 Orphanet:2467 systemic mastocytosis +MONDO:0015564 Castleman disease MONDO:0000001 Orphanet:160 Orphanet:377788 disease +MONDO:0015565 cap polyposis MONDO:0000001 Orphanet:160148 Orphanet:377788 disease +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0000001 Orphanet:163525 Orphanet:377788 disease +MONDO:0015579 Hb Bart's hydrops fetalis MONDO:0011399 Orphanet:163596 Orphanet:846 alpha thalassemia spectrum +MONDO:0015583 2p21 microdeletion syndrome MONDO:0000001 Orphanet:163693 Orphanet:377788 disease +MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:0000001 Orphanet:163703 Orphanet:377788 disease +MONDO:0015585 cryptogenic late-onset epileptic spasms MONDO:0000001 Orphanet:163708 Orphanet:377788 disease +MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome MONDO:0000001 Orphanet:163721 Orphanet:377788 disease +MONDO:0015595 posttransplant acute limbic encephalitis MONDO:0019956 Orphanet:163921 Orphanet:97275 encephalitis +MONDO:0015597 pustulosis palmaris et plantaris MONDO:0000001 Orphanet:163927 Orphanet:377788 disease +MONDO:0015599 atopic keratoconjunctivitis MONDO:0000001 Orphanet:163934 Orphanet:377788 disease +MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0000001 Orphanet:163971 Orphanet:377788 disease +MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0000001 Orphanet:164726 Orphanet:377788 disease +MONDO:0015609 advanced sleep phase syndrome MONDO:0000001 Orphanet:164736 Orphanet:377788 disease +MONDO:0015612 Dent disease MONDO:0000001 Orphanet:1652 Orphanet:377788 disease +MONDO:0015613 dentin dysplasia MONDO:0000001 Orphanet:1653 Orphanet:377788 disease +MONDO:0015614 dermatitis herpetiformis MONDO:0000001 Orphanet:1656 Orphanet:377788 disease +MONDO:0015622 wound myiasis MONDO:0000001 Orphanet:165955 Orphanet:377788 disease +MONDO:0015623 cavitary myiasis MONDO:0000001 Orphanet:165958 Orphanet:377788 disease +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0000001 Orphanet:166002 Orphanet:377788 disease +MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0000001 Orphanet:166105 Orphanet:377788 disease +MONDO:0015634 isolated osteopoikilosis MONDO:0000001 Orphanet:166119 Orphanet:377788 disease +MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0000001 Orphanet:166286 Orphanet:377788 disease +MONDO:0015636 dirofilariasis MONDO:0000001 Orphanet:166291 Orphanet:377788 disease +MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures MONDO:0000001 Orphanet:166299 Orphanet:377788 disease +MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy MONDO:0000001 Orphanet:166302 Orphanet:377788 disease +MONDO:0015640 benign infantile seizures associated with mild gastroenteritis MONDO:0000001 Orphanet:166305 Orphanet:377788 disease +MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0000001 Orphanet:166308 Orphanet:377788 disease +MONDO:0015643 photosensitive epilepsy MONDO:0000001 Orphanet:166409 Orphanet:377788 disease +MONDO:0015643 photosensitive epilepsy MONDO:0017768 Orphanet:166409 Orphanet:310 reflex epilepsy +MONDO:0015644 audiogenic seizures MONDO:0000001 Orphanet:166415 Orphanet:377788 disease +MONDO:0015645 eating seizures MONDO:0000001 Orphanet:166418 Orphanet:377788 disease +MONDO:0015646 orgasm-induced seizures MONDO:0000001 Orphanet:166421 Orphanet:377788 disease +MONDO:0015647 thinking seizures MONDO:0000001 Orphanet:166424 Orphanet:377788 disease +MONDO:0015648 startle epilepsy MONDO:0000001 Orphanet:166427 Orphanet:377788 disease +MONDO:0015649 micturation-induced seizures MONDO:0000001 Orphanet:166430 Orphanet:377788 disease +MONDO:0015663 diencephalic syndrome MONDO:0000001 Orphanet:1672 Orphanet:377788 disease +MONDO:0015664 idiopathic pulmonary artery dilatation MONDO:0000001 Orphanet:1676 Orphanet:377788 disease +MONDO:0015665 scleromyxedema MONDO:0000001 Orphanet:167635 Orphanet:377788 disease +MONDO:0015678 dysplasia of head of femur, Meyer type MONDO:0000001 Orphanet:168621 Orphanet:377788 disease +MONDO:0015681 childhood disintegrative disorder MONDO:0000001 Orphanet:168782 Orphanet:377788 disease +MONDO:0015686 primary peritoneal carcinoma MONDO:0000001 Orphanet:168829 Orphanet:377788 disease +MONDO:0015687 chronic eosinophilic leukemia MONDO:0000001 Orphanet:168940 Orphanet:377788 disease +MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement MONDO:0000001 Orphanet:168947 Orphanet:377788 disease +MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement MONDO:0000001 Orphanet:168950 Orphanet:377788 disease +MONDO:0015692 refractory anemia with excess blasts in transformation MONDO:0000001 Orphanet:168960 Orphanet:377788 disease +MONDO:0015694 malignant melanoma of the mucosa MONDO:0000001 Orphanet:168999 Orphanet:377788 disease +MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction MONDO:0000001 Orphanet:169090 Orphanet:377788 disease +MONDO:0015696 Good syndrome MONDO:0000001 Orphanet:169105 Orphanet:377788 disease +MONDO:0015697 immunoglobulin heavy chain deficiency MONDO:0000001 Orphanet:169110 Orphanet:377788 disease +MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:0000001 Orphanet:169139 Orphanet:377788 disease +MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency MONDO:0000001 Orphanet:169147 Orphanet:377788 disease +MONDO:0015700 immunodeficiency due to a late component of complement deficiency MONDO:0000001 Orphanet:169150 Orphanet:377788 disease +MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency MONDO:0000001 Orphanet:169154 Orphanet:377788 disease +MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency MONDO:0000001 Orphanet:169157 Orphanet:377788 disease +MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta MONDO:0000001 Orphanet:169160 Orphanet:377788 disease +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0000001 Orphanet:169186 Orphanet:377788 disease +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0016191 Orphanet:169186 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0000001 Orphanet:98434 Orphanet:377788 disease +MONDO:0015735 severe congenital nemaline myopathy MONDO:0000001 Orphanet:171430 Orphanet:377788 disease +MONDO:0015736 intermediate nemaline myopathy MONDO:0000001 Orphanet:171433 Orphanet:377788 disease +MONDO:0015737 typical nemaline myopathy MONDO:0000001 Orphanet:171436 Orphanet:377788 disease +MONDO:0015738 childhood-onset nemaline myopathy MONDO:0000001 Orphanet:171439 Orphanet:377788 disease +MONDO:0015739 adult-onset nemaline myopathy MONDO:0000001 Orphanet:171442 Orphanet:377788 disease +MONDO:0015743 idiopathic bilateral vestibulopathy MONDO:0000001 Orphanet:171684 Orphanet:377788 disease +MONDO:0015748 hereditary mucosal leukokeratosis MONDO:0000001 Orphanet:171723 Orphanet:377788 disease +MONDO:0015749 6q16 deletion syndrome MONDO:0000001 Orphanet:171829 Orphanet:377788 disease +MONDO:0015753 cap myopathy MONDO:0000001 Orphanet:171881 Orphanet:377788 disease +MONDO:0015753 cap myopathy MONDO:0017303 Orphanet:171881 Orphanet:284790 qualitative or quantitative defects of tropomyosin +MONDO:0015753 cap myopathy MONDO:0019952 Orphanet:171881 Orphanet:97245 congenital myopathy +MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays MONDO:0000001 Orphanet:171889 Orphanet:377788 disease +MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0000001 Orphanet:172 Orphanet:377788 disease +MONDO:0015766 cholera MONDO:0000001 Orphanet:173 Orphanet:377788 disease +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0000001 Orphanet:177 Orphanet:377788 disease +MONDO:0015780 dyskeratosis congenita MONDO:0000001 Orphanet:1775 Orphanet:377788 disease +MONDO:0015790 central diabetes insipidus MONDO:0000001 Orphanet:178029 Orphanet:377788 disease +MONDO:0015795 undifferentiated embryonal sarcoma of the liver MONDO:0000001 Orphanet:178315 Orphanet:377788 disease +MONDO:0015797 UV-sensitive syndrome MONDO:0000001 Orphanet:178338 Orphanet:377788 disease +MONDO:0015798 inflammatory myofibroblastic tumor MONDO:0000001 Orphanet:178342 Orphanet:377788 disease +MONDO:0015799 Smith-McCort dysplasia MONDO:0000001 Orphanet:178355 Orphanet:377788 disease +MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0000001 Orphanet:178396 Orphanet:377788 disease +MONDO:0015808 folliculotropic mycosis fungoides MONDO:0000001 Orphanet:178512 Orphanet:377788 disease +MONDO:0015808 folliculotropic mycosis fungoides MONDO:0015821 Orphanet:178512 Orphanet:178566 mycosis fungoides and variants +MONDO:0015809 localized pagetoid reticulosis MONDO:0000001 Orphanet:178517 Orphanet:377788 disease +MONDO:0015809 localized pagetoid reticulosis MONDO:0015821 Orphanet:178517 Orphanet:178566 mycosis fungoides and variants +MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma MONDO:0000001 Orphanet:178522 Orphanet:377788 disease +MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma MONDO:0000001 Orphanet:178528 Orphanet:377788 disease +MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma MONDO:0000001 Orphanet:178533 Orphanet:377788 disease +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma MONDO:0000001 Orphanet:178536 Orphanet:377788 disease +MONDO:0015814 primary cutaneous follicle center lymphoma MONDO:0000001 Orphanet:178540 Orphanet:377788 disease +MONDO:0015827 distal renal tubular acidosis MONDO:0000001 Orphanet:18 Orphanet:377788 disease +MONDO:0015863 polyembryoma MONDO:0000001 Orphanet:180229 Orphanet:377788 disease +MONDO:0015863 polyembryoma MONDO:0020539 Orphanet:180229 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0015864 mixed germ cell tumor MONDO:0000001 Orphanet:180234 Orphanet:377788 disease +MONDO:0015867 vaginal carcinoma MONDO:0000001 Orphanet:180247 Orphanet:377788 disease +MONDO:0015871 benign breast phyllodes tumor MONDO:0000001 Orphanet:180261 Orphanet:377788 disease +MONDO:0015873 Paget disease of the nipple MONDO:0000001 Orphanet:180275 Orphanet:377788 disease +MONDO:0015908 chromomycosis MONDO:0000001 Orphanet:182 Orphanet:377788 disease +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0000001 Orphanet:182050 Orphanet:377788 disease +MONDO:0015935 extragonadal germinoma MONDO:0000001 Orphanet:182127 Orphanet:377788 disease +MONDO:0015935 extragonadal germinoma MONDO:0018201 Orphanet:182127 Orphanet:363579 extragonadal germ cell tumor +MONDO:0015942 frontometaphyseal dysplasia MONDO:0000001 Orphanet:1826 Orphanet:377788 disease +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0000001 Orphanet:183 Orphanet:377788 disease +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0015492 Orphanet:183 Orphanet:156152 anti-neutrophil cytoplasmic antibody-associated vasculitis +MONDO:0015987 scimitar syndrome MONDO:0020295 Orphanet:185 Orphanet:98729 congenital pulmonary veins anomaly +MONDO:0015993 cone-rod dystrophy MONDO:0000001 Orphanet:1872 Orphanet:377788 disease +MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0000001 Orphanet:1884 Orphanet:377788 disease +MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016390 Orphanet:189466 Orphanet:2238 familial hypoparathyroidism +MONDO:0016003 ehrlichiosis MONDO:0000001 Orphanet:1902 Orphanet:377788 disease +MONDO:0016003 ehrlichiosis MONDO:0006956 Orphanet:1902 Orphanet:102021 Rickettsiosis +MONDO:0016006 Cockayne syndrome MONDO:0000001 Orphanet:191 Orphanet:377788 disease +MONDO:0016006 Cockayne syndrome MONDO:0019303 Orphanet:191 Orphanet:79389 premature aging syndrome +MONDO:0016019 Rasmussen subacute encephalitis MONDO:0000001 Orphanet:1929 Orphanet:377788 disease +MONDO:0016025 myoclonic-astatic epilepsy MONDO:0000001 Orphanet:1942 Orphanet:377788 disease +MONDO:0016026 infant epilepsy with migrant focal crisis MONDO:0000001 Orphanet:1943 Orphanet:377788 disease +MONDO:0016027 benign neonatal seizures MONDO:0000001 Orphanet:1949 Orphanet:377788 disease +MONDO:0016029 esthesioneuroblastoma MONDO:0000001 Orphanet:1957 Orphanet:377788 disease +MONDO:0016030 Evans syndrome MONDO:0000001 Orphanet:1959 Orphanet:377788 disease +MONDO:0016038 calcified aponeurotic fibroma MONDO:0000001 Orphanet:199260 Orphanet:377788 disease +MONDO:0016039 infantile digital fibromatosis MONDO:0000001 Orphanet:199267 Orphanet:377788 disease +MONDO:0016040 harlequin syndrome MONDO:0000001 Orphanet:199282 Orphanet:377788 disease +MONDO:0016042 late-onset isolated ACTH deficiency MONDO:0000001 Orphanet:199299 Orphanet:377788 disease +MONDO:0016047 endophthalmitis MONDO:0000001 Orphanet:199323 Orphanet:377788 disease +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0000001 Orphanet:199326 Orphanet:377788 disease +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0015962 Orphanet:199326 Orphanet:183592 inherited renal tubular disease +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0017765 Orphanet:199326 Orphanet:309848 disorder of magnesium transport +MONDO:0016049 congenital myopathy, Paradas type MONDO:0000001 Orphanet:199329 Orphanet:377788 disease +MONDO:0016052 atypical autism MONDO:0000001 Orphanet:199627 Orphanet:377788 disease +MONDO:0016061 immunodeficiency with factor H anomaly MONDO:0000001 Orphanet:200421 Orphanet:377788 disease +MONDO:0016063 Cowden disease MONDO:0000001 Orphanet:201 Orphanet:377788 disease +MONDO:0016067 Crandall syndrome MONDO:0000001 Orphanet:202 Orphanet:377788 disease +MONDO:0016068 fibrochondrogenesis MONDO:0000001 Orphanet:2021 Orphanet:377788 disease +MONDO:0016071 juvenile hyaline fibromatosis MONDO:0021154 Orphanet:2028 Orphanet:79381 dermis disorder +MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:204 Orphanet:377788 disease +MONDO:0016083 FLOTCH syndrome MONDO:0000001 Orphanet:2045 Orphanet:377788 disease +MONDO:0016086 osteochondritis of tarsal/metatarsal bone MONDO:0000001 Orphanet:563991 Orphanet:377788 disease +MONDO:0016092 serous or mucinous cystadenoma of childhood MONDO:0000001 Orphanet:206470 Orphanet:377788 disease +MONDO:0016094 vaginal germ cell malignant tumor MONDO:0000001 Orphanet:206489 Orphanet:377788 disease +MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0000001 Orphanet:206492 Orphanet:377788 disease +MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0000001 Orphanet:206538 Orphanet:377788 disease +MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0018171 Orphanet:206538 Orphanet:35807 malignant germ cell tumor of ovary +MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0000001 Orphanet:206546 Orphanet:377788 disease +MONDO:0016098 immune-mediated necrotizing myopathy MONDO:0000001 Orphanet:206569 Orphanet:377788 disease +MONDO:0016099 overlap myositis MONDO:0000001 Orphanet:206572 Orphanet:377788 disease +MONDO:0016100 rippling muscle disease with myasthenia gravis MONDO:0000001 Orphanet:206575 Orphanet:377788 disease +MONDO:0016101 neurolymphomatosis MONDO:0000001 Orphanet:206586 Orphanet:377788 disease +MONDO:0016102 subacute inflammatory demyelinating polyneuropathy MONDO:0000001 Orphanet:206594 Orphanet:377788 disease +MONDO:0016113 bulbospinal muscular atrophy MONDO:0024257 Orphanet:206701 Orphanet:98505 hereditary motor neuron disease +MONDO:0016126 viral myositis MONDO:0000001 Orphanet:206991 Orphanet:377788 disease +MONDO:0016127 bacterial myositis MONDO:0000001 Orphanet:206994 Orphanet:377788 disease +MONDO:0016129 eosinophilic gastroenteritis MONDO:0000001 Orphanet:2070 Orphanet:377788 disease +MONDO:0016130 fungal myositis MONDO:0000001 Orphanet:207000 Orphanet:377788 disease +MONDO:0016158 narcolepsy-cataplexy syndrome MONDO:0000001 Orphanet:2073 Orphanet:377788 disease +MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0000001 Orphanet:94147 Orphanet:377788 disease +MONDO:0016164 herpetiform pemphigus MONDO:0000001 Orphanet:208524 Orphanet:377788 disease +MONDO:0016167 optic pathway glioma MONDO:0000001 Orphanet:2086 Orphanet:377788 disease +MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy MONDO:0000001 Orphanet:209004 Orphanet:377788 disease +MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment MONDO:0000001 Orphanet:209867 Orphanet:377788 disease +MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO:0000001 Orphanet:209902 Orphanet:377788 disease +MONDO:0016204 idiopathic copper-associated cirrhosis MONDO:0000001 Orphanet:209919 Orphanet:377788 disease +MONDO:0016205 IRVAN syndrome MONDO:0000001 Orphanet:209943 Orphanet:377788 disease +MONDO:0016206 idiopathic uveal effusion syndrome MONDO:0000001 Orphanet:209956 Orphanet:377788 disease +MONDO:0016206 idiopathic uveal effusion syndrome MONDO:0017255 Orphanet:209956 Orphanet:280898 panuveitis +MONDO:0016207 phacoanaphylactic uveitis MONDO:0000001 Orphanet:209959 Orphanet:377788 disease +MONDO:0016208 solitary rectal ulcer syndrome MONDO:0000001 Orphanet:209964 Orphanet:377788 disease +MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood MONDO:0000001 Orphanet:209973 Orphanet:377788 disease +MONDO:0016211 non-papillary transitional cell carcinoma of the bladder MONDO:0000001 Orphanet:209989 Orphanet:377788 disease +MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome MONDO:0000001 Orphanet:210133 Orphanet:377788 disease +MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO:0000001 Orphanet:210136 Orphanet:377788 disease +MONDO:0016215 spastic quadriplegic cerebral palsy MONDO:0000001 Orphanet:210141 Orphanet:377788 disease +MONDO:0016216 adult hepatocellular carcinoma MONDO:0000001 Orphanet:210159 Orphanet:377788 disease +MONDO:0016220 congenital temporomandibular joint ankylosis MONDO:0000001 Orphanet:210576 Orphanet:377788 disease +MONDO:0016222 spindle cell hemangioma MONDO:0000001 Orphanet:210584 Orphanet:377788 disease +MONDO:0016236 kaposiform hemangioendothelioma MONDO:0000001 Orphanet:2122 Orphanet:377788 disease +MONDO:0016238 solitary fibrous tumor MONDO:0000001 Orphanet:2126 Orphanet:377788 disease +MONDO:0016239 cystinosis MONDO:0000001 Orphanet:213 Orphanet:377788 disease +MONDO:0016241 alternating hemiplegia of childhood MONDO:0000001 Orphanet:2131 Orphanet:377788 disease +MONDO:0016242 hemoglobin C disease MONDO:0000001 Orphanet:2132 Orphanet:377788 disease +MONDO:0016243 hemoglobin E disease MONDO:0000001 Orphanet:2133 Orphanet:377788 disease +MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0000001 Orphanet:2134 Orphanet:377788 disease +MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0001549 Orphanet:2134 Orphanet:544458 hemolytic-uremic syndrome +MONDO:0016258 uterine corpus carcinofibroma MONDO:0000001 Orphanet:213605 Orphanet:377788 disease +MONDO:0016258 uterine corpus carcinofibroma MONDO:0016255 Orphanet:213605 Orphanet:213589 uterine corpus mixed epithelial and mesenchymal neoplasm +MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0000001 Orphanet:213610 Orphanet:377788 disease +MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0016255 Orphanet:213610 Orphanet:213589 uterine corpus mixed epithelial and mesenchymal neoplasm +MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0000001 Orphanet:213615 Orphanet:377788 disease +MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0000001 Orphanet:213625 Orphanet:377788 disease +MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri MONDO:0000001 Orphanet:213630 Orphanet:377788 disease +MONDO:0016264 autoimmune hepatitis MONDO:0000001 Orphanet:2137 Orphanet:377788 disease +MONDO:0016266 squamous cell carcinoma of the corpus uteri MONDO:0000001 Orphanet:213716 Orphanet:377788 disease +MONDO:0016267 undifferentiated carcinoma of the corpus uteri MONDO:0000001 Orphanet:213721 Orphanet:377788 disease +MONDO:0016268 papillary carcinoma of the corpus uteri MONDO:0000001 Orphanet:213726 Orphanet:377788 disease +MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri MONDO:0000001 Orphanet:213731 Orphanet:377788 disease +MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri MONDO:0000001 Orphanet:213736 Orphanet:377788 disease +MONDO:0016272 transitional cell carcinoma of the corpus uteri MONDO:0000001 Orphanet:213746 Orphanet:377788 disease +MONDO:0016273 malignant germ cell tumor of corpus uteri MONDO:0000001 Orphanet:213751 Orphanet:377788 disease +MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri MONDO:0000001 Orphanet:213777 Orphanet:377788 disease +MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0000001 Orphanet:213802 Orphanet:377788 disease +MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0000001 Orphanet:213807 Orphanet:377788 disease +MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri MONDO:0000001 Orphanet:213812 Orphanet:377788 disease +MONDO:0016289 malignant germ cell tumor of cervix uteri MONDO:0000001 Orphanet:213837 Orphanet:377788 disease +MONDO:0016293 congenital stationary night blindness MONDO:0000001 Orphanet:215 Orphanet:377788 disease +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0002561 Orphanet:216 Orphanet:68366 lysosomal storage disease +MONDO:0016318 progressive multifocal leukoencephalopathy MONDO:0000001 Orphanet:217260 Orphanet:377788 disease +MONDO:0016319 congenital insensitivity to pain with hyperhidrosis MONDO:0000001 Orphanet:217399 Orphanet:377788 disease +MONDO:0016321 pulmonary interstitial glycogenosis MONDO:0000001 Orphanet:217557 Orphanet:377788 disease +MONDO:0016322 neuroendocrine cell hyperplasia of infancy MONDO:0000001 Orphanet:217560 Orphanet:377788 disease +MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency MONDO:0000001 Orphanet:217566 Orphanet:377788 disease +MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0000001 Orphanet:217656 Orphanet:377788 disease +MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome MONDO:0000001 Orphanet:2201 Orphanet:377788 disease +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0000001 Orphanet:220295 Orphanet:377788 disease +MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency MONDO:0000001 Orphanet:220448 Orphanet:377788 disease +MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0000001 Orphanet:220460 Orphanet:377788 disease +MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0015185 Orphanet:220460 Orphanet:104010 intestinal polyposis syndrome +MONDO:0016366 maternal phenylketonuria MONDO:0017306 Orphanet:2209 Orphanet:284814 disorder of phenylalanine metabolism +MONDO:0016367 dermatomyositis MONDO:0000001 Orphanet:221 Orphanet:377788 disease +MONDO:0016367 dermatomyositis MONDO:0020122 Orphanet:221 Orphanet:98482 acquired idiopathic inflammatory myopathy +MONDO:0016370 Marchiafava-Bignami disease MONDO:0000001 Orphanet:221074 Orphanet:377788 disease +MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves MONDO:0000001 Orphanet:221078 Orphanet:377788 disease +MONDO:0016372 glossopharyngeal neuralgia MONDO:0000001 Orphanet:221098 Orphanet:377788 disease +MONDO:0016376 confetti-like macular atrophy MONDO:0000001 Orphanet:221142 Orphanet:377788 disease +MONDO:0016379 erosive pustular dermatosis of the scalp MONDO:0000001 Orphanet:222 Orphanet:377788 disease +MONDO:0016380 acquired hypertrichosis lanuginosa MONDO:0000001 Orphanet:2221 Orphanet:377788 disease +MONDO:0016381 hypertrichosis lanuginosa congenita MONDO:0000001 Orphanet:2222 Orphanet:377788 disease +MONDO:0016383 nephrogenic diabetes insipidus MONDO:0000001 Orphanet:223 Orphanet:377788 disease +MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome MONDO:0000001 Orphanet:2230 Orphanet:377788 disease +MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0000001 Orphanet:2233 Orphanet:377788 disease +MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:2235 Orphanet:377788 disease +MONDO:0016390 familial hypoparathyroidism MONDO:0000001 Orphanet:2238 Orphanet:377788 disease +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0000001 Orphanet:2250 Orphanet:377788 disease +MONDO:0016394 sporadic infantile bilateral striatal necrosis MONDO:0000001 Orphanet:225147 Orphanet:377788 disease +MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MONDO:0000001 Orphanet:2253 Orphanet:377788 disease +MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function MONDO:0000001 Orphanet:226307 Orphanet:377788 disease +MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs MONDO:0000001 Orphanet:226313 Orphanet:377788 disease +MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0000001 Orphanet:2266 Orphanet:377788 disease +MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome MONDO:0000001 Orphanet:2271 Orphanet:377788 disease +MONDO:0016419 hereditary breast carcinoma MONDO:0000001 Orphanet:227535 Orphanet:377788 disease +MONDO:0016421 toxic oil syndrome MONDO:0000001 Orphanet:227972 Orphanet:377788 disease +MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0000001 Orphanet:227982 Orphanet:377788 disease +MONDO:0016423 autoimmune polyendocrinopathy type 4 MONDO:0000001 Orphanet:227990 Orphanet:377788 disease +MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0000001 Orphanet:228012 Orphanet:377788 disease +MONDO:0016425 Hughes-Stovin syndrome MONDO:0000001 Orphanet:228116 Orphanet:377788 disease +MONDO:0016426 fusariosis MONDO:0000001 Orphanet:228119 Orphanet:377788 disease +MONDO:0016429 Marburg acute multiple sclerosis MONDO:0000001 Orphanet:228157 Orphanet:377788 disease +MONDO:0016430 Balo concentric sclerosis MONDO:0000001 Orphanet:228165 Orphanet:377788 disease +MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:0000001 Orphanet:228179 Orphanet:377788 disease +MONDO:0016437 late-onset focal dermal elastosis MONDO:0000001 Orphanet:228227 Orphanet:377788 disease +MONDO:0016438 linear focal dermal elastosis MONDO:0000001 Orphanet:228236 Orphanet:377788 disease +MONDO:0016439 elastoderma MONDO:0000001 Orphanet:228240 Orphanet:377788 disease +MONDO:0016440 elastofibroma dorsi MONDO:0000001 Orphanet:228243 Orphanet:377788 disease +MONDO:0016441 acquired pseudoxanthoma elasticum MONDO:0000001 Orphanet:228247 Orphanet:377788 disease +MONDO:0016442 elastoma MONDO:0000001 Orphanet:228254 Orphanet:377788 disease +MONDO:0016443 papular elastorrhexis MONDO:0000001 Orphanet:228264 Orphanet:377788 disease +MONDO:0016444 primary anetoderma MONDO:0000001 Orphanet:228272 Orphanet:377788 disease +MONDO:0016445 familial anetoderma MONDO:0000001 Orphanet:228277 Orphanet:377788 disease +MONDO:0016446 acquired cutis laxa MONDO:0000001 Orphanet:228285 Orphanet:377788 disease +MONDO:0016447 white fibrous papulosis of the neck MONDO:0000001 Orphanet:228290 Orphanet:377788 disease +MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis MONDO:0000001 Orphanet:228293 Orphanet:377788 disease +MONDO:0016449 mid-dermal elastolysis MONDO:0000001 Orphanet:228299 Orphanet:377788 disease +MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 MONDO:0000001 Orphanet:228374 Orphanet:377788 disease +MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0000001 Orphanet:228379 Orphanet:377788 disease +MONDO:0016462 isolated agammaglobulinemia MONDO:0000001 Orphanet:229717 Orphanet:377788 disease +MONDO:0016464 insulin-resistance syndrome type B MONDO:0000001 Orphanet:2298 Orphanet:377788 disease +MONDO:0016466 asbestosis MONDO:0000001 Orphanet:2302 Orphanet:377788 disease +MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0000001 Orphanet:230857 Orphanet:377788 disease +MONDO:0016471 pachyonychia congenita MONDO:0000001 Orphanet:2309 Orphanet:377788 disease +MONDO:0016472 dracunculiasis MONDO:0000001 Orphanet:231 Orphanet:377788 disease +MONDO:0016473 familial rhabdoid tumor MONDO:0000001 Orphanet:231108 Orphanet:377788 disease +MONDO:0016474 drug-induced lupus erythematosus MONDO:0000001 Orphanet:231111 Orphanet:377788 disease +MONDO:0016483 intracranial berry aneurysm MONDO:0000001 Orphanet:231160 Orphanet:377788 disease +MONDO:0016486 beta-thalassemia major MONDO:0019402 Orphanet:231214 Orphanet:848 beta thalassemia +MONDO:0016487 beta-thalassemia intermedia MONDO:0019402 Orphanet:231222 Orphanet:848 beta thalassemia +MONDO:0016489 delta-beta-thalassemia MONDO:0000001 Orphanet:231237 Orphanet:377788 disease +MONDO:0016490 hemoglobin C-beta-thalassemia syndrome MONDO:0000001 Orphanet:231242 Orphanet:377788 disease +MONDO:0016491 hemoglobin E-beta-thalassemia syndrome MONDO:0000001 Orphanet:231249 Orphanet:377788 disease +MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome MONDO:0000001 Orphanet:231426 Orphanet:377788 disease +MONDO:0016497 paraparetic variant of Guillain-Barre syndrome MONDO:0000001 Orphanet:231445 Orphanet:377788 disease +MONDO:0016498 acute pure sensory neuropathy MONDO:0000001 Orphanet:231450 Orphanet:377788 disease +MONDO:0016499 autoimmune autonomic ganglionopathy MONDO:0000001 Orphanet:231457 Orphanet:377788 disease +MONDO:0016500 acute sensory ataxic neuropathy MONDO:0000001 Orphanet:231466 Orphanet:377788 disease +MONDO:0016503 congenital erosive and vesicular dermatosis MONDO:0000001 Orphanet:231573 Orphanet:377788 disease +MONDO:0016504 primary unilateral adrenal hyperplasia MONDO:0000001 Orphanet:231580 Orphanet:377788 disease +MONDO:0016505 aldosterone-producing adrenal cortex adenoma MONDO:0000001 Orphanet:231625 Orphanet:377788 disease +MONDO:0016506 ectopic aldosterone-producing tumor MONDO:0000001 Orphanet:231632 Orphanet:377788 disease +MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome MONDO:0000001 Orphanet:2349 Orphanet:377788 disease +MONDO:0016526 trisomy 9p MONDO:0016930 Orphanet:262767 Orphanet:262643 partial trisomy/tetrasomy of chromosome 9 +MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0000001 Orphanet:2364 Orphanet:377788 disease +MONDO:0016532 Lennox-Gastaut syndrome MONDO:0000001 Orphanet:2382 Orphanet:377788 disease +MONDO:0016534 infundibulo-neurohypophysitis MONDO:0000001 Orphanet:238305 Orphanet:377788 disease +MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0000001 Orphanet:238468 Orphanet:377788 disease +MONDO:0016539 atypical hypotonia-cystinuria syndrome MONDO:0000001 Orphanet:238523 Orphanet:377788 disease +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0000001 Orphanet:238569 Orphanet:377788 disease +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0000001 Orphanet:238583 Orphanet:377788 disease +MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:2386 Orphanet:377788 disease +MONDO:0016546 primary orthostatic tremor MONDO:0000001 Orphanet:238606 Orphanet:377788 disease +MONDO:0016548 megacystis-megaureter syndrome MONDO:0000001 Orphanet:238637 Orphanet:377788 disease +MONDO:0016553 isolated congenital hypogonadotropic hypogonadism MONDO:0000001 Orphanet:238666 Orphanet:377788 disease +MONDO:0016554 neonatal iodine exposure MONDO:0000001 Orphanet:238688 Orphanet:377788 disease +MONDO:0016557 leukonychia totalis MONDO:0000001 Orphanet:2387 Orphanet:377788 disease +MONDO:0016558 familial congenital mirror movements MONDO:0000001 Orphanet:238722 Orphanet:377788 disease +MONDO:0016566 loiasis MONDO:0000001 Orphanet:2404 Orphanet:377788 disease +MONDO:0016570 primary pulmonary lymphoma MONDO:0000001 Orphanet:2420 Orphanet:377788 disease +MONDO:0016573 acute fatty liver of pregnancy MONDO:0000001 Orphanet:243367 Orphanet:377788 disease +MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO:0000001 Orphanet:2435 Orphanet:377788 disease +MONDO:0016575 primary ciliary dyskinesia MONDO:0000001 Orphanet:244 Orphanet:377788 disease +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:0004994 Orphanet:247 Orphanet:167848 cardiomyopathy +MONDO:0016588 infantile mercury poisoning MONDO:0000001 Orphanet:247165 Orphanet:377788 disease +MONDO:0016591 sporadic adult-onset ataxia of unknown etiology MONDO:0000001 Orphanet:247234 Orphanet:377788 disease +MONDO:0016594 superficial siderosis MONDO:0000001 Orphanet:247245 Orphanet:377788 disease +MONDO:0016595 inhalational anthrax MONDO:0000001 Orphanet:247257 Orphanet:377788 disease +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0000001 Orphanet:247262 Orphanet:377788 disease +MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene MONDO:0000001 Orphanet:247378 Orphanet:377788 disease +MONDO:0016603 citrullinemia type II MONDO:0000001 Orphanet:247585 Orphanet:377788 disease +MONDO:0016609 inflammatory myopathy with abundant macrophages MONDO:0000001 Orphanet:247718 Orphanet:377788 disease +MONDO:0016610 idiopathic eosinophilic myositis MONDO:0000001 Orphanet:247724 Orphanet:377788 disease +MONDO:0016611 lipoblastoma MONDO:0000001 Orphanet:247762 Orphanet:377788 disease +MONDO:0016612 X-linked cerebellar ataxia MONDO:0100309 Orphanet:247765 Orphanet:183518 hereditary ataxia +MONDO:0016613 APC-related attenuated familial adenomatous polyposis MONDO:0016362 Orphanet:247806 Orphanet:220460 attenuated familial adenomatous polyposis +MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency MONDO:0000001 Orphanet:247815 Orphanet:377788 disease +MONDO:0016621 juvenile Huntington disease MONDO:0000001 Orphanet:248111 Orphanet:377788 disease +MONDO:0016630 isolated delta-storage pool disease MONDO:0000001 Orphanet:248340 Orphanet:377788 disease +MONDO:0016638 familial hypodysfibrinogenemia MONDO:0018060 Orphanet:248408 Orphanet:335 congenital fibrinogen deficiency +MONDO:0016642 meningioma MONDO:0000001 Orphanet:2495 Orphanet:377788 disease +MONDO:0016644 logopenic progressive aphasia MONDO:0000001 Orphanet:250831 Orphanet:377788 disease +MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy MONDO:0000001 Orphanet:250932 Orphanet:377788 disease +MONDO:0016649 Warburg micro syndrome MONDO:0016073 Orphanet:2510 Orphanet:202948 syndromic microphthalmia +MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0000001 Orphanet:251304 Orphanet:377788 disease +MONDO:0016662 idiopathic recurrent pericarditis MONDO:0000001 Orphanet:251307 Orphanet:377788 disease +MONDO:0016664 drug-induced vasculitis MONDO:0000001 Orphanet:251325 Orphanet:377788 disease +MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome MONDO:0000001 Orphanet:251332 Orphanet:377788 disease +MONDO:0016668 sickle cell-beta-thalassemia disease syndrome MONDO:0000001 Orphanet:251359 Orphanet:377788 disease +MONDO:0016669 sickle cell-hemoglobin c disease syndrome MONDO:0000001 Orphanet:251365 Orphanet:377788 disease +MONDO:0016670 sickle cell-hemoglobin d disease syndrome MONDO:0000001 Orphanet:251370 Orphanet:377788 disease +MONDO:0016671 sickle cell-hemoglobin E disease syndrome MONDO:0000001 Orphanet:251375 Orphanet:377788 disease +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome MONDO:0000001 Orphanet:251380 Orphanet:377788 disease +MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type MONDO:0000001 Orphanet:251393 Orphanet:377788 disease +MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type MONDO:0017612 Orphanet:251393 Orphanet:305 junctional epidermolysis bullosa +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0000001 Orphanet:251523 Orphanet:377788 disease +MONDO:0016681 gliosarcoma MONDO:0018177 Orphanet:251576 Orphanet:360 glioblastoma +MONDO:0016682 giant cell glioblastoma MONDO:0018177 Orphanet:251579 Orphanet:360 glioblastoma +MONDO:0016683 gliomatosis cerebri MONDO:0000001 Orphanet:251582 Orphanet:377788 disease +MONDO:0016684 anaplastic astrocytoma MONDO:0000001 Orphanet:251589 Orphanet:377788 disease +MONDO:0016685 low-grade astrocytoma MONDO:0021636 Orphanet:251592 Orphanet:94 astrocytic tumor +MONDO:0016686 diffuse astrocytoma MONDO:0000001 Orphanet:251595 Orphanet:377788 disease +MONDO:0016690 pleomorphic xanthoastrocytoma MONDO:0000001 Orphanet:251607 Orphanet:377788 disease +MONDO:0016691 pilocytic astrocytoma MONDO:0000001 Orphanet:251612 Orphanet:377788 disease +MONDO:0016693 subependymal giant cell astrocytoma MONDO:0000001 Orphanet:251618 Orphanet:377788 disease +MONDO:0016695 oligodendroglioma MONDO:0000001 Orphanet:251627 Orphanet:377788 disease +MONDO:0016696 anaplastic oligodendroglioma MONDO:0000001 Orphanet:251630 Orphanet:377788 disease +MONDO:0016698 ependymoma MONDO:0000001 Orphanet:251636 Orphanet:377788 disease +MONDO:0016699 myxopapillary ependymoma MONDO:0000001 Orphanet:251643 Orphanet:377788 disease +MONDO:0016700 anaplastic ependymoma MONDO:0000001 Orphanet:251646 Orphanet:377788 disease +MONDO:0016702 oligoastrocytoma MONDO:0000001 Orphanet:251656 Orphanet:377788 disease +MONDO:0016703 anaplastic oligoastrocytoma MONDO:0000001 Orphanet:251663 Orphanet:377788 disease +MONDO:0016705 angiocentric glioma MONDO:0000001 Orphanet:251671 Orphanet:377788 disease +MONDO:0016706 chordoid glioma of the third ventricle MONDO:0000001 Orphanet:251674 Orphanet:377788 disease +MONDO:0016707 astroblastoma MONDO:0000001 Orphanet:251679 Orphanet:377788 disease +MONDO:0016718 choroid plexus carcinoma MONDO:0000001 Orphanet:251899 Orphanet:377788 disease +MONDO:0016718 choroid plexus carcinoma MONDO:0016717 Orphanet:251899 Orphanet:251896 choroid plexus neoplasm +MONDO:0016722 pineoblastoma MONDO:0000001 Orphanet:251909 Orphanet:377788 disease +MONDO:0016723 pineocytoma MONDO:0000001 Orphanet:251912 Orphanet:377788 disease +MONDO:0016724 papillary tumor of the pineal region MONDO:0000001 Orphanet:251915 Orphanet:377788 disease +MONDO:0016727 extraventricular neurocytoma MONDO:0000001 Orphanet:251927 Orphanet:377788 disease +MONDO:0016730 gangliocytoma MONDO:0000001 Orphanet:251937 Orphanet:377788 disease +MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma MONDO:0000001 Orphanet:251940 Orphanet:377788 disease +MONDO:0016733 ganglioglioma MONDO:0000001 Orphanet:251949 Orphanet:377788 disease +MONDO:0016734 anaplastic ganglioglioma MONDO:0000001 Orphanet:251957 Orphanet:377788 disease +MONDO:0016734 anaplastic ganglioglioma MONDO:0016729 Orphanet:251957 Orphanet:251934 mixed neuronal-glial tumor +MONDO:0016735 papillary glioneuronal tumor MONDO:0000001 Orphanet:251962 Orphanet:377788 disease +MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule MONDO:0000001 Orphanet:251975 Orphanet:377788 disease +MONDO:0016740 choriocarcinoma of the central nervous system MONDO:0000001 Orphanet:252015 Orphanet:377788 disease +MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0015864 Orphanet:252021 Orphanet:180234 mixed germ cell tumor +MONDO:0016745 diffuse leptomeningeal melanocytosis MONDO:0000001 Orphanet:252031 Orphanet:377788 disease +MONDO:0016746 meningeal melanocytoma MONDO:0000001 Orphanet:252046 Orphanet:377788 disease +MONDO:0016747 primary melanoma of the central nervous system MONDO:0000001 Orphanet:252050 Orphanet:377788 disease +MONDO:0016748 hemangioblastoma MONDO:0000001 Orphanet:252054 Orphanet:377788 disease +MONDO:0016755 neurofibroma MONDO:0000001 Orphanet:252183 Orphanet:377788 disease +MONDO:0016769 linear lichen planus MONDO:0000001 Orphanet:254379 Orphanet:377788 disease +MONDO:0016770 actinic lichen planus MONDO:0000001 Orphanet:254395 Orphanet:377788 disease +MONDO:0016771 annular atrophic lichen planus MONDO:0000001 Orphanet:254411 Orphanet:377788 disease +MONDO:0016772 annular lichen planus MONDO:0000001 Orphanet:254424 Orphanet:377788 disease +MONDO:0016773 atrophic lichen planus MONDO:0000001 Orphanet:254449 Orphanet:377788 disease +MONDO:0016774 lichen planus pigmentosus MONDO:0000001 Orphanet:254463 Orphanet:377788 disease +MONDO:0016775 lichen planus pemphigoides MONDO:0000001 Orphanet:254478 Orphanet:377788 disease +MONDO:0016776 frontal fibrosing alopecia MONDO:0000001 Orphanet:254492 Orphanet:377788 disease +MONDO:0016787 epithelioid trophoblastic tumor MONDO:0000001 Orphanet:254698 Orphanet:377788 disease +MONDO:0016806 maternally-inherited mitochondrial dystonia MONDO:0000001 Orphanet:254851 Orphanet:377788 disease +MONDO:0016807 pure mitochondrial myopathy MONDO:0000001 Orphanet:254854 Orphanet:377788 disease +MONDO:0016809 spinocerebellar ataxia with epilepsy MONDO:0000001 Orphanet:254881 Orphanet:377788 disease +MONDO:0016809 spinocerebellar ataxia with epilepsy MONDO:0016798 Orphanet:254881 Orphanet:254818 ataxia neuropathy spectrum +MONDO:0016810 autosomal recessive progressive external ophthalmoplegia MONDO:0000001 Orphanet:254886 Orphanet:377788 disease +MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome MONDO:0000001 Orphanet:254902 Orphanet:377788 disease +MONDO:0016814 maternally-inherited Leigh syndrome MONDO:0000001 Orphanet:255210 Orphanet:377788 disease +MONDO:0016820 Moyamoya disease MONDO:0000001 Orphanet:2573 Orphanet:377788 disease +MONDO:0016823 mycetoma MONDO:0000001 Orphanet:2583 Orphanet:377788 disease +MONDO:0016824 infantile myofibromatosis MONDO:0000001 Orphanet:2591 Orphanet:377788 disease +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0000001 Orphanet:2597 Orphanet:377788 disease +MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0000001 Orphanet:26 Orphanet:377788 disease +MONDO:0016828 autosomal recessive sideroblastic anemia MONDO:0000001 Orphanet:260305 Orphanet:377788 disease +MONDO:0016829 familial visceral myopathy MONDO:0000001 Orphanet:2604 Orphanet:377788 disease +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0000001 Orphanet:261 Orphanet:377788 disease +MONDO:0016831 linear verrucous nevus syndrome MONDO:0000001 Orphanet:2611 Orphanet:377788 disease +MONDO:0016832 distal 7q11.23 microduplication syndrome MONDO:0016958 Orphanet:261102 Orphanet:262887 partial duplication of the long arm of chromosome 7 +MONDO:0016846 distal 22q11.2 microduplication syndrome MONDO:0016972 Orphanet:261337 Orphanet:263004 partial duplication of the long arm of chromosome 22 +MONDO:0016848 juvenile temporal arteritis MONDO:0000001 Orphanet:26137 Orphanet:377788 disease +MONDO:0016979 MRCS syndrome MONDO:0000001 Orphanet:263347 Orphanet:377788 disease +MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO:0000001 Orphanet:263410 Orphanet:377788 disease +MONDO:0016982 angiosarcoma MONDO:0000001 Orphanet:263413 Orphanet:377788 disease +MONDO:0016984 nevus of Ota MONDO:0000001 Orphanet:263425 Orphanet:377788 disease +MONDO:0016985 nevus of Ito MONDO:0000001 Orphanet:263432 Orphanet:377788 disease +MONDO:0016986 congenital smooth muscle hamartoma MONDO:0000001 Orphanet:263435 Orphanet:377788 disease +MONDO:0016988 hyperinsulinism due to HNF4A deficiency MONDO:0000001 Orphanet:263455 Orphanet:377788 disease +MONDO:0016989 Fuchs heterochromic iridocyclitis MONDO:0000001 Orphanet:263479 Orphanet:377788 disease +MONDO:0016990 acquired prothrombin deficiency MONDO:0000001 Orphanet:26348 Orphanet:377788 disease +MONDO:0016991 acute necrotizing encephalopathy of childhood MONDO:0000001 Orphanet:263524 Orphanet:377788 disease +MONDO:0016995 familial multiple meningioma MONDO:0000001 Orphanet:263662 Orphanet:377788 disease +MONDO:0016996 NK-cell enteropathy MONDO:0000001 Orphanet:263665 Orphanet:377788 disease +MONDO:0017018 isolated pulmonary capillaritis MONDO:0000001 Orphanet:264691 Orphanet:377788 disease +MONDO:0017042 thanatophoric dysplasia MONDO:0000001 Orphanet:2655 Orphanet:377788 disease +MONDO:0017043 congenital mesoblastic nephroma MONDO:0000001 Orphanet:2665 Orphanet:377788 disease +MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome MONDO:0000001 Orphanet:2666 Orphanet:377788 disease +MONDO:0017048 pseudomyxoma peritonei MONDO:0000001 Orphanet:26790 Orphanet:377788 disease +MONDO:0017050 intraocular medulloepithelioma MONDO:0000001 Orphanet:268139 Orphanet:377788 disease +MONDO:0017100 neutropenia-monocytopenia-deafness syndrome MONDO:0000001 Orphanet:2690 Orphanet:377788 disease +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0015168 Orphanet:2697 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0017124 noma MONDO:0000001 Orphanet:2700 Orphanet:377788 disease +MONDO:0017137 onchocerciasis MONDO:0000001 Orphanet:2737 Orphanet:377788 disease +MONDO:0017160 behavioral variant of frontotemporal dementia MONDO:0000001 Orphanet:275864 Orphanet:377788 disease +MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0000001 Orphanet:275872 Orphanet:377788 disease +MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization MONDO:0000001 Orphanet:275944 Orphanet:377788 disease +MONDO:0017165 bile acid CoA ligase deficiency and defective amidation MONDO:0000001 Orphanet:276066 Orphanet:377788 disease +MONDO:0017167 malignant epithelial tumor of salivary glands MONDO:0000001 Orphanet:276145 Orphanet:377788 disease +MONDO:0017168 benign epithelial tumor of salivary glands MONDO:0000001 Orphanet:276148 Orphanet:377788 disease +MONDO:0017170 idiopathic recurrent stupor MONDO:0000001 Orphanet:276174 Orphanet:377788 disease +MONDO:0017178 osteochondritis dissecans MONDO:0000001 Orphanet:2764 Orphanet:377788 disease +MONDO:0017178 osteochondritis dissecans MONDO:0005380 Orphanet:2764 Orphanet:399158 osteonecrosis +MONDO:0017181 hypnic headache MONDO:0000001 Orphanet:276429 Orphanet:377788 disease +MONDO:0017183 hyperinsulinism due to UCP2 deficiency MONDO:0000001 Orphanet:276556 Orphanet:377788 disease +MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency MONDO:0000001 Orphanet:276575 Orphanet:377788 disease +MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency MONDO:0000001 Orphanet:276580 Orphanet:377788 disease +MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency MONDO:0000001 Orphanet:276598 Orphanet:377788 disease +MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency MONDO:0000001 Orphanet:276603 Orphanet:377788 disease +MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia MONDO:0000001 Orphanet:276608 Orphanet:377788 disease +MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma MONDO:0000001 Orphanet:276621 Orphanet:377788 disease +MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome MONDO:0000001 Orphanet:2795 Orphanet:377788 disease +MONDO:0017202 acute endophthalmitis MONDO:0016047 Orphanet:279888 Orphanet:199323 endophthalmitis +MONDO:0017203 chronic endophthalmitis MONDO:0016047 Orphanet:279891 Orphanet:199323 endophthalmitis +MONDO:0017204 toxic maculopathy due to antimalarial drugs MONDO:0000001 Orphanet:279894 Orphanet:377788 disease +MONDO:0017205 primary oculocerebral lymphoma MONDO:0000001 Orphanet:279897 Orphanet:377788 disease +MONDO:0017209 infectious posterior uveitis MONDO:0000001 Orphanet:279919 Orphanet:377788 disease +MONDO:0017210 infectious anterior uveitis MONDO:0000001 Orphanet:279922 Orphanet:377788 disease +MONDO:0017210 infectious anterior uveitis MONDO:0006651 Orphanet:279922 Orphanet:280886 anterior uveitis +MONDO:0017211 infectious panuveitis MONDO:0000001 Orphanet:279925 Orphanet:377788 disease +MONDO:0017212 paraneoplastic uveitis MONDO:0000001 Orphanet:279928 Orphanet:377788 disease +MONDO:0017214 vitamin B12-responsive methylmalonic acidemia MONDO:0000001 Orphanet:28 Orphanet:377788 disease +MONDO:0017215 calciphylaxis MONDO:0000001 Orphanet:280062 Orphanet:377788 disease +MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:0000001 Orphanet:280270 Orphanet:377788 disease +MONDO:0017227 autoimmune pancreatitis type 1 MONDO:0017287 Orphanet:280302 Orphanet:596448 IgG4-related disease +MONDO:0017228 autoimmune pancreatitis type 2 MONDO:0000001 Orphanet:280315 Orphanet:377788 disease +MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0000001 Orphanet:280365 Orphanet:377788 disease +MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy MONDO:0000001 Orphanet:280379 Orphanet:377788 disease +MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome MONDO:0000001 Orphanet:280384 Orphanet:377788 disease +MONDO:0017233 familial Alzheimer-like prion disease MONDO:0000001 Orphanet:280397 Orphanet:377788 disease +MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin MONDO:0000001 Orphanet:280598 Orphanet:377788 disease +MONDO:0017238 hemoglobinopathy Toms River MONDO:0000001 Orphanet:280615 Orphanet:377788 disease +MONDO:0017239 familial progressive hyper- and hypopigmentation MONDO:0000001 Orphanet:280628 Orphanet:377788 disease +MONDO:0017239 familial progressive hyper- and hypopigmentation MONDO:0019288 Orphanet:280628 Orphanet:79374 skin pigmentation disorder +MONDO:0017242 cutaneous collagenous vasculopathy MONDO:0000001 Orphanet:280779 Orphanet:377788 disease +MONDO:0017257 idiopathic posterior uveitis MONDO:0000001 Orphanet:280917 Orphanet:377788 disease +MONDO:0017258 idiopathic panuveitis MONDO:0000001 Orphanet:280921 Orphanet:377788 disease +MONDO:0017264 syndromic recessive X-linked ichthyosis MONDO:0000001 Orphanet:281090 Orphanet:377788 disease +MONDO:0017267 self-healing collodion baby MONDO:0000001 Orphanet:281122 Orphanet:377788 disease +MONDO:0017268 acral self-healing collodion baby MONDO:0000001 Orphanet:281127 Orphanet:377788 disease +MONDO:0017279 young-onset Parkinson disease MONDO:0000001 Orphanet:2828 Orphanet:377788 disease +MONDO:0017280 demodicidosis MONDO:0000001 Orphanet:283 Orphanet:377788 disease +MONDO:0017282 alveolar echinococcosis MONDO:0000001 Orphanet:284 Orphanet:377788 disease +MONDO:0017287 IgG4-related disease MONDO:0000001 Orphanet:596448 Orphanet:377788 disease +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0000001 Orphanet:284395 Orphanet:377788 disease +MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids MONDO:0000001 Orphanet:284448 Orphanet:377788 disease +MONDO:0017298 acute zonal occult outer retinopathy MONDO:0000001 Orphanet:284454 Orphanet:377788 disease +MONDO:0017299 acute annular outer retinopathy MONDO:0000001 Orphanet:284460 Orphanet:377788 disease +MONDO:0017309 neonatal Marfan syndrome MONDO:0000001 Orphanet:284979 Orphanet:377788 disease +MONDO:0017309 neonatal Marfan syndrome MONDO:0017310 Orphanet:284979 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0017312 Perrault syndrome MONDO:0000001 Orphanet:2855 Orphanet:377788 disease +MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0000001 Orphanet:286 Orphanet:377788 disease +MONDO:0017318 phakomatosis pigmentovascularis MONDO:0000001 Orphanet:2875 Orphanet:377788 disease +MONDO:0017319 hereditary elliptocytosis MONDO:0000001 Orphanet:288 Orphanet:377788 disease +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency MONDO:0000001 Orphanet:2880 Orphanet:377788 disease +MONDO:0017324 autosomal recessive hypophosphatemic rickets MONDO:0000001 Orphanet:289176 Orphanet:377788 disease +MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO:0000001 Orphanet:289266 Orphanet:377788 disease +MONDO:0017326 infective dermatitis associated with HTLV-1 MONDO:0000001 Orphanet:289347 Orphanet:377788 disease +MONDO:0017327 primary non-gestational choriocarcinoma of ovary MONDO:0000001 Orphanet:289356 Orphanet:377788 disease +MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome MONDO:0000001 Orphanet:289478 Orphanet:377788 disease +MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency MONDO:0000001 Orphanet:289548 Orphanet:377788 disease +MONDO:0017339 exfoliative ichthyosis MONDO:0000001 Orphanet:289586 Orphanet:377788 disease +MONDO:0017340 juvenile nasopharyngeal angiofibroma MONDO:0000001 Orphanet:289596 Orphanet:377788 disease +MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0000001 Orphanet:289661 Orphanet:377788 disease +MONDO:0017347 plasmablastic lymphoma MONDO:0000001 Orphanet:289666 Orphanet:377788 disease +MONDO:0017347 plasmablastic lymphoma MONDO:0017595 Orphanet:289666 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma +MONDO:0017348 lymphoepithelial-like carcinoma MONDO:0000001 Orphanet:289682 Orphanet:377788 disease +MONDO:0017349 myopericytoma MONDO:0000001 Orphanet:289685 Orphanet:377788 disease +MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism MONDO:0019189 Orphanet:289832 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0017361 congenital rubella syndrome MONDO:0000001 Orphanet:290 Orphanet:377788 disease +MONDO:0017362 neuralgic amyotrophy MONDO:0000001 Orphanet:2901 Orphanet:377788 disease +MONDO:0017363 idiopathic chronic eosinophilic pneumonia MONDO:0000001 Orphanet:2902 Orphanet:377788 disease +MONDO:0017364 POEMS syndrome MONDO:0000001 Orphanet:2905 Orphanet:377788 disease +MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type MONDO:0000001 Orphanet:2907 Orphanet:377788 disease +MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0000001 Orphanet:29072 Orphanet:377788 disease +MONDO:0017372 congenital varicella syndrome MONDO:0000001 Orphanet:291 Orphanet:377788 disease +MONDO:0017373 poliomyelitis MONDO:0000001 Orphanet:2912 Orphanet:377788 disease +MONDO:0017373 poliomyelitis MONDO:0020010 Orphanet:2912 Orphanet:98010 infectious disorder of the nervous system +MONDO:0017375 congenital enterovirus infection MONDO:0000001 Orphanet:292 Orphanet:377788 disease +MONDO:0017376 reactive arthritis MONDO:0000001 Orphanet:29207 Orphanet:377788 disease +MONDO:0017380 juvenile polyposis syndrome MONDO:0000001 Orphanet:2929 Orphanet:377788 disease +MONDO:0017381 congenital herpes simplex virus infection MONDO:0000001 Orphanet:293 Orphanet:377788 disease +MONDO:0017381 congenital herpes simplex virus infection MONDO:0016511 Orphanet:293 Orphanet:232035 infectious embryofetopathy +MONDO:0017382 familial clubfoot due to 5q31 microdeletion MONDO:0016046 Orphanet:293144 Orphanet:199315 familial clubfoot with or without associated lower limb anomalies +MONDO:0017383 familial clubfoot due to PITX1 point mutation MONDO:0016046 Orphanet:293150 Orphanet:199315 familial clubfoot with or without associated lower limb anomalies +MONDO:0017384 acute generalized exanthematous pustulosis MONDO:0000001 Orphanet:293173 Orphanet:377788 disease +MONDO:0017385 malignant migrating partial seizures of infancy MONDO:0000001 Orphanet:293181 Orphanet:377788 disease +MONDO:0017387 epithelioid sarcoma MONDO:0000001 Orphanet:293202 Orphanet:377788 disease +MONDO:0017388 celiac trunk compression syndrome MONDO:0000001 Orphanet:293208 Orphanet:377788 disease +MONDO:0017391 Grayson-Wilbrandt corneal dystrophy MONDO:0000001 Orphanet:293375 Orphanet:377788 disease +MONDO:0017392 pre-descemet corneal dystrophy MONDO:0000001 Orphanet:293462 Orphanet:377788 disease +MONDO:0017394 ketamine-induced biliary dilatation MONDO:0000001 Orphanet:293807 Orphanet:377788 disease +MONDO:0017395 fixed pigmented erythema MONDO:0000001 Orphanet:293812 Orphanet:377788 disease +MONDO:0017404 distal Xq28 microduplication syndrome MONDO:0017010 Orphanet:293939 Orphanet:263783 partial duplication of the long arm of chromosome X +MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0000001 Orphanet:293978 Orphanet:377788 disease +MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0000001 Orphanet:293987 Orphanet:377788 disease +MONDO:0017409 fetal cytomegalovirus syndrome MONDO:0000001 Orphanet:294 Orphanet:377788 disease +MONDO:0017410 porencephaly MONDO:0000001 Orphanet:2940 Orphanet:377788 disease +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0000001 Orphanet:294023 Orphanet:377788 disease +MONDO:0017416 postpoliomyelitis syndrome MONDO:0000001 Orphanet:2942 Orphanet:377788 disease +MONDO:0017416 postpoliomyelitis syndrome MONDO:0020129 Orphanet:2942 Orphanet:98506 acquired motor neuron disease +MONDO:0017569 de Barsy syndrome MONDO:0000001 Orphanet:2962 Orphanet:377788 disease +MONDO:0017570 leukocyte adhesion deficiency MONDO:0000001 Orphanet:2968 Orphanet:377788 disease +MONDO:0017571 Proteus-like syndrome MONDO:0000001 Orphanet:2969 Orphanet:377788 disease +MONDO:0017572 tick-borne encephalitis MONDO:0000001 Orphanet:297 Orphanet:377788 disease +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0000001 Orphanet:298 Orphanet:377788 disease +MONDO:0017577 spontaneous periodic hypothermia MONDO:0000001 Orphanet:29822 Orphanet:377788 disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0000001 Orphanet:300385 Orphanet:377788 disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0017611 Orphanet:300385 Orphanet:304055 pituitary tumor +MONDO:0017586 onychocytic matricoma MONDO:0000001 Orphanet:300504 Orphanet:377788 disease +MONDO:0017587 onychomatricoma MONDO:0000001 Orphanet:300512 Orphanet:377788 disease +MONDO:0017589 follicular cholangitis and pancreatitis MONDO:0000001 Orphanet:300552 Orphanet:377788 disease +MONDO:0017590 carcinoma of the ampulla of vater MONDO:0000001 Orphanet:300557 Orphanet:377788 disease +MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome MONDO:0000001 Orphanet:300564 Orphanet:377788 disease +MONDO:0017593 juvenile amyotrophic lateral sclerosis MONDO:0000001 Orphanet:300605 Orphanet:377788 disease +MONDO:0017593 juvenile amyotrophic lateral sclerosis MONDO:0024257 Orphanet:300605 Orphanet:98505 hereditary motor neuron disease +MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0000001 Orphanet:300849 Orphanet:377788 disease +MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma MONDO:0000001 Orphanet:300857 Orphanet:377788 disease +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0000001 Orphanet:300865 Orphanet:377788 disease +MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma MONDO:0000001 Orphanet:300869 Orphanet:377788 disease +MONDO:0017600 hairy cell leukemia variant MONDO:0000001 Orphanet:300878 Orphanet:377788 disease +MONDO:0017600 hairy cell leukemia variant MONDO:0017594 Orphanet:300878 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma +MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation MONDO:0000001 Orphanet:300888 Orphanet:377788 disease +MONDO:0017615 benign familial infantile epilepsy MONDO:0000001 Orphanet:306 Orphanet:377788 disease +MONDO:0017617 acquired adult-onset immunodeficiency MONDO:0000001 Orphanet:306431 Orphanet:377788 disease +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0000001 Orphanet:306516 Orphanet:377788 disease +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0015962 Orphanet:306516 Orphanet:183592 inherited renal tubular disease +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0017765 Orphanet:306516 Orphanet:309848 disorder of magnesium transport +MONDO:0017628 myospherulosis MONDO:0000001 Orphanet:306553 Orphanet:377788 disease +MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome MONDO:0000001 Orphanet:306669 Orphanet:377788 disease +MONDO:0017638 manganese poisoning MONDO:0000001 Orphanet:306682 Orphanet:377788 disease +MONDO:0017639 carbon monoxide-induced parkinsonism MONDO:0000001 Orphanet:306686 Orphanet:377788 disease +MONDO:0017640 cyanide-induced parkinsonism MONDO:0000001 Orphanet:306692 Orphanet:377788 disease +MONDO:0017649 hemidystonia-hemiatrophy syndrome MONDO:0000001 Orphanet:306741 Orphanet:377788 disease +MONDO:0017659 sporadic hyperekplexia MONDO:0000001 Orphanet:306776 Orphanet:377788 disease +MONDO:0017677 focal acral hyperkeratosis MONDO:0000001 Orphanet:308013 Orphanet:377788 disease +MONDO:0017708 mevalonate kinase deficiency MONDO:0000001 Orphanet:309025 Orphanet:377788 disease +MONDO:0017711 pancreatic colipase deficiency MONDO:0000001 Orphanet:309108 Orphanet:377788 disease +MONDO:0017712 combined pancreatic lipase-colipase deficiency MONDO:0000001 Orphanet:309111 Orphanet:377788 disease +MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:0018868 Orphanet:309256 Orphanet:512 metachromatic leukodystrophy +MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:0018868 Orphanet:309271 Orphanet:512 metachromatic leukodystrophy +MONDO:0017746 atypical Rett syndrome MONDO:0000001 Orphanet:3095 Orphanet:377788 disease +MONDO:0017767 rheumatic fever MONDO:0000001 Orphanet:3099 Orphanet:377788 disease +MONDO:0017775 melioidosis MONDO:0000001 Orphanet:31202 Orphanet:377788 disease +MONDO:0017776 nocardiosis MONDO:0000001 Orphanet:31204 Orphanet:377788 disease +MONDO:0017778 lamellar ichthyosis MONDO:0000001 Orphanet:313 Orphanet:377788 disease +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0000001 Orphanet:3137 Orphanet:377788 disease +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma MONDO:0000001 Orphanet:313920 Orphanet:377788 disease +MONDO:0017785 PENS syndrome MONDO:0000001 Orphanet:313936 Orphanet:377788 disease +MONDO:0017787 erythroderma desquamativum MONDO:0000001 Orphanet:314 Orphanet:377788 disease +MONDO:0017789 idiopathic linear interstitial keratitis MONDO:0000001 Orphanet:314017 Orphanet:377788 disease +MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0000001 Orphanet:314022 Orphanet:377788 disease +MONDO:0017791 high bone mass osteogenesis imperfecta MONDO:0000001 Orphanet:314029 Orphanet:377788 disease +MONDO:0017795 ameloblastoma MONDO:0000001 Orphanet:314419 Orphanet:377788 disease +MONDO:0017802 ovarian fibrothecoma MONDO:0000001 Orphanet:314478 Orphanet:377788 disease +MONDO:0017803 primary progressive apraxia of speech MONDO:0000001 Orphanet:314566 Orphanet:377788 disease +MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:314572 Orphanet:377788 disease +MONDO:0017809 parkinsonism due to ATP13A2 deficiency MONDO:0000001 Orphanet:314632 Orphanet:377788 disease +MONDO:0017809 parkinsonism due to ATP13A2 deficiency MONDO:0016295 Orphanet:314632 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0017810 variant ABeta2M amyloidosis MONDO:0000001 Orphanet:314652 Orphanet:377788 disease +MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia MONDO:0000001 Orphanet:314662 Orphanet:377788 disease +MONDO:0017814 primary bone lymphoma MONDO:0000001 Orphanet:314684 Orphanet:377788 disease +MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO:0000001 Orphanet:314718 Orphanet:377788 disease +MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency MONDO:0015613 Orphanet:314721 Orphanet:1653 dentin dysplasia +MONDO:0017823 somatomammotropinoma MONDO:0000001 Orphanet:314769 Orphanet:377788 disease +MONDO:0017824 familial isolated pituitary adenoma MONDO:0000001 Orphanet:314777 Orphanet:377788 disease +MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0000001 Orphanet:3148 Orphanet:377788 disease +MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0018078 Orphanet:3148 Orphanet:3394 soft tissue sarcoma +MONDO:0017833 primary hypereosinophilic syndrome MONDO:0000001 Orphanet:314950 Orphanet:377788 disease +MONDO:0017834 secondary hypereosinophilic syndrome MONDO:0000001 Orphanet:314962 Orphanet:377788 disease +MONDO:0017836 erythrokeratoderma en cocardes MONDO:0000001 Orphanet:315 Orphanet:377788 disease +MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO:0000001 Orphanet:3151 Orphanet:377788 disease +MONDO:0017842 Senior-Loken syndrome MONDO:0000001 Orphanet:3156 Orphanet:377788 disease +MONDO:0017844 Sezary syndrome MONDO:0000001 Orphanet:3162 Orphanet:377788 disease +MONDO:0017850 sirenomelia MONDO:0018639 Orphanet:3169 Orphanet:444941 caudal regression-sirenomelia spectrum +MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:316 Orphanet:377788 disease +MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:317 Orphanet:377788 disease +MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0000001 Orphanet:3173 Orphanet:377788 disease +MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0015650 Orphanet:3173 Orphanet:166463 epilepsy syndrome +MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0000001 Orphanet:3175 Orphanet:377788 disease +MONDO:0017858 acute erythroid leukemia MONDO:0000001 Orphanet:318 Orphanet:377788 disease +MONDO:0017860 methanol poisoning MONDO:0000001 Orphanet:31825 Orphanet:377788 disease +MONDO:0017861 ethylene glycol poisoning MONDO:0000001 Orphanet:31826 Orphanet:377788 disease +MONDO:0017862 paraquat poisoning MONDO:0000001 Orphanet:31827 Orphanet:377788 disease +MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO:0022754 Orphanet:319171 Orphanet:261965 chromosome 17p deletion +MONDO:0017869 chondroectodermal dysplasia with night blindness MONDO:0000001 Orphanet:319195 Orphanet:377788 disease +MONDO:0017872 Lujo hemorrhagic fever MONDO:0000001 Orphanet:319213 Orphanet:377788 disease +MONDO:0017874 Argentine hemorrhagic fever MONDO:0000001 Orphanet:319223 Orphanet:377788 disease +MONDO:0017874 Argentine hemorrhagic fever MONDO:0018087 Orphanet:319223 Orphanet:341 viral hemorrhagic fever +MONDO:0017875 Bolivian hemorrhagic fever MONDO:0000001 Orphanet:319229 Orphanet:377788 disease +MONDO:0017876 Venezuelan hemorrhagic fever MONDO:0000001 Orphanet:319234 Orphanet:377788 disease +MONDO:0017877 Brazilian hemorrhagic fever MONDO:0000001 Orphanet:319239 Orphanet:377788 disease +MONDO:0017878 Chapare hemorrhagic fever MONDO:0000001 Orphanet:319244 Orphanet:377788 disease +MONDO:0017879 hantavirus pulmonary syndrome MONDO:0000001 Orphanet:319247 Orphanet:377788 disease +MONDO:0017880 Rift valley fever MONDO:0000001 Orphanet:319251 Orphanet:377788 disease +MONDO:0017881 Kyasanur forest disease MONDO:0000001 Orphanet:319254 Orphanet:377788 disease +MONDO:0017882 Omsk hemorrhagic fever MONDO:0000001 Orphanet:319266 Orphanet:377788 disease +MONDO:0017884 papillary renal cell carcinoma MONDO:0000001 Orphanet:319298 Orphanet:377788 disease +MONDO:0017884 papillary renal cell carcinoma MONDO:0005086 Orphanet:319298 Orphanet:217071 renal cell carcinoma +MONDO:0017885 chromophobe renal cell carcinoma MONDO:0000001 Orphanet:319303 Orphanet:377788 disease +MONDO:0017885 chromophobe renal cell carcinoma MONDO:0005086 Orphanet:319303 Orphanet:217071 renal cell carcinoma +MONDO:0017886 MIT family translocation renal cell carcinoma MONDO:0000001 Orphanet:319308 Orphanet:377788 disease +MONDO:0017890 tubulocystic renal cell carcinoma MONDO:0000001 Orphanet:319325 Orphanet:377788 disease +MONDO:0017890 tubulocystic renal cell carcinoma MONDO:0005086 Orphanet:319325 Orphanet:217071 renal cell carcinoma +MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita MONDO:0000001 Orphanet:319332 Orphanet:377788 disease +MONDO:0017893 inherited acute myeloid leukemia MONDO:0000001 Orphanet:319465 Orphanet:377788 disease +MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0000001 Orphanet:319480 Orphanet:377788 disease +MONDO:0017895 familial papillary or follicular thyroid carcinoma MONDO:0000001 Orphanet:319487 Orphanet:377788 disease +MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0000001 Orphanet:3196 Orphanet:377788 disease +MONDO:0017906 amyloidosis cutis dyschromia MONDO:0000001 Orphanet:319635 Orphanet:377788 disease +MONDO:0017907 primary lymphoma of the conjunctiva MONDO:0000001 Orphanet:319667 Orphanet:377788 disease +MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0000001 Orphanet:32 Orphanet:377788 disease +MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0019241 Orphanet:32 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:0000001 Orphanet:3202 Orphanet:377788 disease +MONDO:0017917 maternally-inherited spastic paraplegia MONDO:0000001 Orphanet:320360 Orphanet:377788 disease +MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0000001 Orphanet:3240 Orphanet:377788 disease +MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0000001 Orphanet:324294 Orphanet:377788 disease +MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0000001 Orphanet:324299 Orphanet:377788 disease +MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations MONDO:0000001 Orphanet:324364 Orphanet:377788 disease +MONDO:0017931 hereditary inclusion body myopathy type 4 MONDO:0000001 Orphanet:324381 Orphanet:377788 disease +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0000001 Orphanet:324525 Orphanet:377788 disease +MONDO:0017935 hyperinsulinism due to HNF1A deficiency MONDO:0000001 Orphanet:324575 Orphanet:377788 disease +MONDO:0017936 benign Samaritan congenital myopathy MONDO:0000001 Orphanet:324581 Orphanet:377788 disease +MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain MONDO:0000001 Orphanet:324585 Orphanet:377788 disease +MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO:0000001 Orphanet:324611 Orphanet:377788 disease +MONDO:0017941 chikungunya MONDO:0000001 Orphanet:324625 Orphanet:377788 disease +MONDO:0017942 Hendra virus infection MONDO:0000001 Orphanet:324632 Orphanet:377788 disease +MONDO:0017943 autoerythrocyte sensitization syndrome MONDO:0000001 Orphanet:324636 Orphanet:377788 disease +MONDO:0017944 invasive non-typhoidal salmonellosis MONDO:0000001 Orphanet:324648 Orphanet:377788 disease +MONDO:0017945 ABetaL34V amyloidosis MONDO:0005620 Orphanet:324703 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017946 ABeta amyloidosis, Iowa type MONDO:0005620 Orphanet:324708 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017947 ABeta amyloidosis, Italian type MONDO:0005620 Orphanet:324713 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017948 ABetaA21G amyloidosis MONDO:0005620 Orphanet:324718 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017949 ABeta amyloidosis, Arctic type MONDO:0005620 Orphanet:324723 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017958 magic syndrome MONDO:0000001 Orphanet:324972 Orphanet:377788 disease +MONDO:0017968 46,XY ovotesticular disorder of sex development MONDO:0000001 Orphanet:325345 Orphanet:377788 disease +MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0000001 Orphanet:3261 Orphanet:377788 disease +MONDO:0017986 disorder of plasmalogens biosynthesis MONDO:0019053 Orphanet:3276 Orphanet:68373 peroxisomal disease +MONDO:0017988 multifocal atrial tachycardia MONDO:0000001 Orphanet:3282 Orphanet:377788 disease +MONDO:0017989 His bundle tachycardia MONDO:0000001 Orphanet:3283 Orphanet:377788 disease +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:0000001 Orphanet:3286 Orphanet:377788 disease +MONDO:0017991 Takayasu arteritis MONDO:0000001 Orphanet:3287 Orphanet:377788 disease +MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0000001 Orphanet:329173 Orphanet:377788 disease +MONDO:0017993 cerebral sinovenous thrombosis MONDO:0000001 Orphanet:329217 Orphanet:377788 disease +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0000001 Orphanet:329308 Orphanet:377788 disease +MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0000001 Orphanet:329319 Orphanet:377788 disease +MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0000001 Orphanet:329324 Orphanet:377788 disease +MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0000001 Orphanet:329336 Orphanet:377788 disease +MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0000001 Orphanet:329475 Orphanet:377788 disease +MONDO:0018006 adult-onset distal myopathy due to VCP mutation MONDO:0000001 Orphanet:329478 Orphanet:377788 disease +MONDO:0018008 idiopathic giant cell myocarditis MONDO:0000001 Orphanet:329874 Orphanet:377788 disease +MONDO:0018008 idiopathic giant cell myocarditis MONDO:0004994 Orphanet:329874 Orphanet:167848 cardiomyopathy +MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy MONDO:0000001 Orphanet:329883 Orphanet:377788 disease +MONDO:0018011 juvenile overlap myositis MONDO:0000001 Orphanet:329894 Orphanet:377788 disease +MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:329942 Orphanet:377788 disease +MONDO:0018015 intermittent hydrarthrosis MONDO:0000001 Orphanet:329967 Orphanet:377788 disease +MONDO:0018018 wild type ATTR amyloidosis MONDO:0000001 Orphanet:330001 Orphanet:377788 disease +MONDO:0018019 lead poisoning MONDO:0000001 Orphanet:330015 Orphanet:377788 disease +MONDO:0018020 mercury poisoning MONDO:0000001 Orphanet:330021 Orphanet:377788 disease +MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0000001 Orphanet:330029 Orphanet:377788 disease +MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome MONDO:0000001 Orphanet:330032 Orphanet:377788 disease +MONDO:0018023 hemoglobin M disease MONDO:0000001 Orphanet:330041 Orphanet:377788 disease +MONDO:0018023 hemoglobin M disease MONDO:0019050 Orphanet:330041 Orphanet:68364 inherited hemoglobinopathy +MONDO:0018024 hydroa vacciniforme MONDO:0000001 Orphanet:330058 Orphanet:377788 disease +MONDO:0018025 chronic actinic dermatitis MONDO:0000001 Orphanet:330064 Orphanet:377788 disease +MONDO:0018029 congenital factor XIII deficiency MONDO:0000001 Orphanet:331 Orphanet:377788 disease +MONDO:0018031 granulomatous slack skin disease MONDO:0000001 Orphanet:33111 Orphanet:377788 disease +MONDO:0018031 granulomatous slack skin disease MONDO:0015821 Orphanet:33111 Orphanet:178566 mycosis fungoides and variants +MONDO:0018039 selective IgM deficiency MONDO:0000001 Orphanet:331235 Orphanet:377788 disease +MONDO:0018044 idiopathic hypersomnia MONDO:0000001 Orphanet:33208 Orphanet:377788 disease +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0000001 Orphanet:3322 Orphanet:377788 disease +MONDO:0018047 familial thrombomodulin anomalies MONDO:0000001 Orphanet:3324 Orphanet:377788 disease +MONDO:0018048 heparin-induced thrombocytopenia MONDO:0000001 Orphanet:3325 Orphanet:377788 disease +MONDO:0018051 Jessner lymphocytic infiltration of the skin MONDO:0000001 Orphanet:33314 Orphanet:377788 disease +MONDO:0018053 trichothiodystrophy MONDO:0000001 Orphanet:33364 Orphanet:377788 disease +MONDO:0018054 familial atrial fibrillation MONDO:0000001 Orphanet:334 Orphanet:377788 disease +MONDO:0018055 pediatric hepatocellular carcinoma MONDO:0000001 Orphanet:33402 Orphanet:377788 disease +MONDO:0018056 bullous lichen planus MONDO:0000001 Orphanet:33408 Orphanet:377788 disease +MONDO:0018059 meningococcal meningitis MONDO:0000001 Orphanet:33475 Orphanet:377788 disease +MONDO:0018059 meningococcal meningitis MONDO:0020010 Orphanet:33475 Orphanet:98010 infectious disorder of the nervous system +MONDO:0018060 congenital fibrinogen deficiency MONDO:0000001 Orphanet:335 Orphanet:377788 disease +MONDO:0018063 nodular non-suppurative panniculitis MONDO:0000001 Orphanet:33577 Orphanet:377788 disease +MONDO:0018077 tularemia MONDO:0000001 Orphanet:3392 Orphanet:377788 disease +MONDO:0018081 hemorrhagic fever-renal syndrome MONDO:0000001 Orphanet:340 Orphanet:377788 disease +MONDO:0018083 transient tyrosinemia of the newborn MONDO:0000001 Orphanet:3402 Orphanet:377788 disease +MONDO:0018083 transient tyrosinemia of the newborn MONDO:0017307 Orphanet:3402 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0018086 ulerythema ophryogenesis MONDO:0000001 Orphanet:3406 Orphanet:377788 disease +MONDO:0018088 familial Mediterranean fever MONDO:0000001 Orphanet:342 Orphanet:377788 disease +MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0000001 Orphanet:3437 Orphanet:377788 disease +MONDO:0018094 Waardenburg syndrome MONDO:0000001 Orphanet:3440 Orphanet:377788 disease +MONDO:0018103 Quinquaud's folliculitis decalvans MONDO:0000001 Orphanet:346 Orphanet:377788 disease +MONDO:0018105 Wolfram syndrome MONDO:0000001 Orphanet:3463 Orphanet:377788 disease +MONDO:0018106 hereditary xanthinuria MONDO:0000001 Orphanet:3467 Orphanet:377788 disease +MONDO:0018108 idiopathic disseminated cytomegalovirus infection MONDO:0000001 Orphanet:35062 Orphanet:377788 disease +MONDO:0018109 fulminant viral hepatitis MONDO:0000001 Orphanet:35063 Orphanet:377788 disease +MONDO:0018115 epidermal nevus syndrome MONDO:0000001 Orphanet:35125 Orphanet:377788 disease +MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0000001 Orphanet:352530 Orphanet:377788 disease +MONDO:0018124 Oncogenic osteomalacia MONDO:0000001 Orphanet:352540 Orphanet:377788 disease +MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0000001 Orphanet:352587 Orphanet:377788 disease +MONDO:0018126 progressive myoclonic epilepsy with dystonia MONDO:0000001 Orphanet:352596 Orphanet:377788 disease +MONDO:0018127 16q24.1 microdeletion syndrome MONDO:0000001 Orphanet:352629 Orphanet:377788 disease +MONDO:0018128 phalangeal microgeodic syndrome MONDO:0000001 Orphanet:352636 Orphanet:377788 disease +MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity MONDO:0000001 Orphanet:352641 Orphanet:377788 disease +MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0000001 Orphanet:352649 Orphanet:377788 disease +MONDO:0018133 attenuated Chédiak-Higashi syndrome MONDO:0000001 Orphanet:352723 Orphanet:377788 disease +MONDO:0018135 oculocutaneous albinism type 1 MONDO:0000001 Orphanet:352731 Orphanet:377788 disease +MONDO:0018146 idiopathic macular telangiectasia type 1 MONDO:0000001 Orphanet:353344 Orphanet:377788 disease +MONDO:0018147 idiopathic macular telangiectasia type 3 MONDO:0000001 Orphanet:353351 Orphanet:377788 disease +MONDO:0018148 vasoproliferative tumor of retina MONDO:0000001 Orphanet:353356 Orphanet:377788 disease +MONDO:0018149 GM1 gangliosidosis MONDO:0000001 Orphanet:354 Orphanet:377788 disease +MONDO:0018150 Gaucher disease MONDO:0000001 Orphanet:355 Orphanet:377788 disease +MONDO:0018152 serpiginous choroiditis MONDO:0000001 Orphanet:35686 Orphanet:377788 disease +MONDO:0018153 Erdheim-Chester disease MONDO:0000001 Orphanet:35687 Orphanet:377788 disease +MONDO:0018155 lateral sclerosis MONDO:0000001 Orphanet:35689 Orphanet:377788 disease +MONDO:0018155 lateral sclerosis MONDO:0020128 Orphanet:35689 Orphanet:98503 motor neuron disorder +MONDO:0018155 lateral sclerosis MONDO:0024237 Orphanet:35689 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0000001 Orphanet:357008 Orphanet:377788 disease +MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0001549 Orphanet:357008 Orphanet:544458 hemolytic-uremic syndrome +MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0957097 Orphanet:357008 Orphanet:576742 hereditary hemolytic uremic syndrome +MONDO:0018162 neurometabolic disorder due to serine deficiency MONDO:0019239 Orphanet:35705 Orphanet:79194 inborn disorder of serine family metabolism +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0000001 Orphanet:357058 Orphanet:377788 disease +MONDO:0018166 oral submucous fibrosis MONDO:0000001 Orphanet:357154 Orphanet:377788 disease +MONDO:0018167 primary essential cutis verticis gyrata MONDO:0000001 Orphanet:357220 Orphanet:377788 disease +MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0000001 Orphanet:357225 Orphanet:377788 disease +MONDO:0018173 acute opioid poisoning MONDO:0000001 Orphanet:35889 Orphanet:377788 disease +MONDO:0018175 combined deficiency of factor V and factor VIII MONDO:0000001 Orphanet:35909 Orphanet:377788 disease +MONDO:0018177 glioblastoma MONDO:0000001 Orphanet:360 Orphanet:377788 disease +MONDO:0018180 staphylococcal scarlet fever MONDO:0000001 Orphanet:36235 Orphanet:377788 disease +MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0000001 Orphanet:36236 Orphanet:377788 disease +MONDO:0018182 bullous impetigo MONDO:0000001 Orphanet:36237 Orphanet:377788 disease +MONDO:0018183 staphylococcal necrotizing pneumonia MONDO:0000001 Orphanet:36238 Orphanet:377788 disease +MONDO:0018184 gastric linitis plastica MONDO:0000001 Orphanet:36273 Orphanet:377788 disease +MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO:0000001 Orphanet:363429 Orphanet:377788 disease +MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0000001 Orphanet:363447 Orphanet:377788 disease +MONDO:0018192 paratesticular adenocarcinoma MONDO:0000001 Orphanet:363478 Orphanet:377788 disease +MONDO:0018193 testicular teratoma MONDO:0000001 Orphanet:363483 Orphanet:377788 disease +MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0000001 Orphanet:363534 Orphanet:377788 disease +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0000001 Orphanet:363549 Orphanet:377788 disease +MONDO:0018199 new-onset refractory status epilepticus MONDO:0000001 Orphanet:363558 Orphanet:377788 disease +MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0000001 Orphanet:363618 Orphanet:377788 disease +MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0000001 Orphanet:363677 Orphanet:377788 disease +MONDO:0018211 Balint syndrome MONDO:0000001 Orphanet:363746 Orphanet:377788 disease +MONDO:0018212 familial cervical artery dissection MONDO:0000001 Orphanet:36382 Orphanet:377788 disease +MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0000001 Orphanet:36386 Orphanet:377788 disease +MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0000001 Orphanet:36387 Orphanet:377788 disease +MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0000001 Orphanet:363969 Orphanet:377788 disease +MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0000001 Orphanet:364033 Orphanet:377788 disease +MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0015760 Orphanet:364033 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0000001 Orphanet:364039 Orphanet:377788 disease +MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0015760 Orphanet:364039 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0000001 Orphanet:364043 Orphanet:377788 disease +MONDO:0018226 infantile epileptic-dyskinetic encephalopathy MONDO:0000001 Orphanet:364063 Orphanet:377788 disease +MONDO:0018227 hypocomplementemic urticarial vasculitis MONDO:0000001 Orphanet:36412 Orphanet:377788 disease +MONDO:0018233 otopalatodigital syndrome spectrum disorder MONDO:0018230 Orphanet:364541 Orphanet:364526 skeletal dysplasia +MONDO:0018242 autoimmune hypoparathyroidism MONDO:0000001 Orphanet:36913 Orphanet:377788 disease +MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0000001 Orphanet:369847 Orphanet:377788 disease +MONDO:0018247 CADDS MONDO:0000001 Orphanet:369942 Orphanet:377788 disease +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0000001 Orphanet:369950 Orphanet:377788 disease +MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures MONDO:0000001 Orphanet:369999 Orphanet:377788 disease +MONDO:0018252 focal palmoplantar keratoderma with joint keratoses MONDO:0000001 Orphanet:370002 Orphanet:377788 disease +MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type MONDO:0000001 Orphanet:370015 Orphanet:377788 disease +MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation MONDO:0000001 Orphanet:370026 Orphanet:377788 disease +MONDO:0018258 Angora hair nevus MONDO:0000001 Orphanet:370039 Orphanet:377788 disease +MONDO:0018259 didymosis aplasticosebacea MONDO:0000001 Orphanet:370046 Orphanet:377788 disease +MONDO:0018260 scalp syndrome MONDO:0000001 Orphanet:370052 Orphanet:377788 disease +MONDO:0018261 Nevada syndrome MONDO:0000001 Orphanet:370059 Orphanet:377788 disease +MONDO:0018264 oculocutaneous albinism type 6 MONDO:0000001 Orphanet:370097 Orphanet:377788 disease +MONDO:0018266 ataxia - telangiectasia variant MONDO:0000001 Orphanet:370109 Orphanet:377788 disease +MONDO:0018268 Medich giant platelet syndrome MONDO:0000001 Orphanet:370127 Orphanet:377788 disease +MONDO:0018269 white platelet syndrome MONDO:0000001 Orphanet:370131 Orphanet:377788 disease +MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0000001 Orphanet:370334 Orphanet:377788 disease +MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0000001 Orphanet:370348 Orphanet:377788 disease +MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:370930 Orphanet:377788 disease +MONDO:0018274 GM3 synthase deficiency MONDO:0000001 Orphanet:370933 Orphanet:377788 disease +MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0000001 Orphanet:370968 Orphanet:377788 disease +MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy MONDO:0000001 Orphanet:370997 Orphanet:377788 disease +MONDO:0018281 congenital muscular dystrophy with hyperlaxity MONDO:0000001 Orphanet:371007 Orphanet:377788 disease +MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum MONDO:0000001 Orphanet:371428 Orphanet:377788 disease +MONDO:0018301 interstitial cystitis MONDO:0000001 Orphanet:37202 Orphanet:377788 disease +MONDO:0018302 acquired kinky hair syndrome MONDO:0000001 Orphanet:37559 Orphanet:377788 disease +MONDO:0018305 chronic granulomatous disease MONDO:0000001 Orphanet:379 Orphanet:377788 disease +MONDO:0018306 Griscelli syndrome MONDO:0000001 Orphanet:381 Orphanet:377788 disease +MONDO:0018308 liver mesenchymal hamartoma MONDO:0000001 Orphanet:386 Orphanet:377788 disease +MONDO:0018309 Hirschsprung disease MONDO:0000001 Orphanet:388 Orphanet:377788 disease +MONDO:0018310 Langerhans cell histiocytosis MONDO:0000001 Orphanet:389 Orphanet:377788 disease +MONDO:0018311 acromelanosis MONDO:0000001 Orphanet:39 Orphanet:377788 disease +MONDO:0018312 histoplasmosis MONDO:0000001 Orphanet:390 Orphanet:377788 disease +MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression MONDO:0000001 Orphanet:391316 Orphanet:377788 disease +MONDO:0018315 X-linked osteoporosis with fractures MONDO:0000001 Orphanet:391330 Orphanet:377788 disease +MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0000001 Orphanet:391343 Orphanet:377788 disease +MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO:0000001 Orphanet:391366 Orphanet:377788 disease +MONDO:0018319 familial episodic pain syndrome MONDO:0000001 Orphanet:391384 Orphanet:377788 disease +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0000001 Orphanet:391408 Orphanet:377788 disease +MONDO:0018321 atypical juvenile parkinsonism MONDO:0000001 Orphanet:391411 Orphanet:377788 disease +MONDO:0018327 glomus tumor MONDO:0000001 Orphanet:391651 Orphanet:377788 disease +MONDO:0018328 homozygous familial hypercholesterolemia MONDO:0000001 Orphanet:391665 Orphanet:377788 disease +MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0000001 Orphanet:391723 Orphanet:377788 disease +MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0018511 Orphanet:391723 Orphanet:423982 epithelial tumor of the appendix +MONDO:0018334 chronic hiccup MONDO:0000001 Orphanet:396 Orphanet:377788 disease +MONDO:0018338 activated PI3K-delta syndrome MONDO:0000001 Orphanet:397596 Orphanet:377788 disease +MONDO:0018339 PrP systemic amyloidosis MONDO:0000001 Orphanet:397606 Orphanet:377788 disease +MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0000001 Orphanet:397695 Orphanet:377788 disease +MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0000001 Orphanet:397750 Orphanet:377788 disease +MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0016122 Orphanet:397750 Orphanet:206976 periodic paralysis +MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0000001 Orphanet:397922 Orphanet:377788 disease +MONDO:0018349 MAN1B1-congenital disorder of glycosylation MONDO:0000001 Orphanet:397941 Orphanet:377788 disease +MONDO:0018352 squamous cell carcinoma of penis MONDO:0000001 Orphanet:398058 Orphanet:377788 disease +MONDO:0018352 squamous cell carcinoma of penis MONDO:0001325 Orphanet:398058 Orphanet:398043 penile cancer +MONDO:0018353 refractory celiac disease MONDO:0000001 Orphanet:398063 Orphanet:377788 disease +MONDO:0018355 SIM1-related Prader-Willi-like syndrome MONDO:0000001 Orphanet:398079 Orphanet:377788 disease +MONDO:0018357 neonatal antiphospholipid syndrome MONDO:0000001 Orphanet:398097 Orphanet:377788 disease +MONDO:0018358 neonatal autoimmune hemolytic anemia MONDO:0000001 Orphanet:398109 Orphanet:377788 disease +MONDO:0018359 neonatal dermatomyositis MONDO:0000001 Orphanet:398117 Orphanet:377788 disease +MONDO:0018360 neonatal lupus erythematosus MONDO:0000001 Orphanet:398124 Orphanet:377788 disease +MONDO:0018361 neonatal scleroderma MONDO:0000001 Orphanet:398127 Orphanet:377788 disease +MONDO:0018362 persistent idiopathic facial pain MONDO:0000001 Orphanet:398147 Orphanet:377788 disease +MONDO:0018369 immature ovarian teratoma MONDO:0000001 Orphanet:398987 Orphanet:377788 disease +MONDO:0018369 immature ovarian teratoma MONDO:0018365 Orphanet:398987 Orphanet:398940 malignant non-epithelial tumor of ovary +MONDO:0018370 KLHL9-related early-onset distal myopathy MONDO:0000001 Orphanet:399081 Orphanet:377788 disease +MONDO:0018371 nebulin-related early-onset distal myopathy MONDO:0000001 Orphanet:399103 Orphanet:377788 disease +MONDO:0018375 traumatic avascular necrosis MONDO:0000001 Orphanet:399175 Orphanet:377788 disease +MONDO:0018376 secondary non-traumatic avascular necrosis MONDO:0000001 Orphanet:399180 Orphanet:377788 disease +MONDO:0018378 osteonecrosis of the jaw MONDO:0000001 Orphanet:399293 Orphanet:377788 disease +MONDO:0018380 idiopathic avascular necrosis MONDO:0000001 Orphanet:399307 Orphanet:377788 disease +MONDO:0018382 epiphysiolysis of the hip MONDO:0000001 Orphanet:399329 Orphanet:377788 disease +MONDO:0018382 epiphysiolysis of the hip MONDO:0005380 Orphanet:399329 Orphanet:399158 osteonecrosis +MONDO:0018394 male infertility with teratozoospermia due to single gene mutation MONDO:0000001 Orphanet:399808 Orphanet:377788 disease +MONDO:0018408 cystic echinococcosis MONDO:0000001 Orphanet:400 Orphanet:377788 disease +MONDO:0018416 autosomal recessive spastic paraplegia type 59 MONDO:0000001 Orphanet:401795 Orphanet:377788 disease +MONDO:0018417 autosomal recessive spastic paraplegia type 60 MONDO:0000001 Orphanet:401800 Orphanet:377788 disease +MONDO:0018418 autosomal recessive spastic paraplegia type 66 MONDO:0000001 Orphanet:401815 Orphanet:377788 disease +MONDO:0018419 autosomal recessive spastic paraplegia type 67 MONDO:0000001 Orphanet:401820 Orphanet:377788 disease +MONDO:0018421 autosomal recessive spastic paraplegia type 69 MONDO:0000001 Orphanet:401830 Orphanet:377788 disease +MONDO:0018422 autosomal recessive spastic paraplegia type 70 MONDO:0000001 Orphanet:401835 Orphanet:377788 disease +MONDO:0018423 autosomal recessive spastic paraplegia type 71 MONDO:0000001 Orphanet:401840 Orphanet:377788 disease +MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0000001 Orphanet:401901 Orphanet:377788 disease +MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) MONDO:0000001 Orphanet:402014 Orphanet:377788 disease +MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) MONDO:0000001 Orphanet:402017 Orphanet:377788 disease +MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) MONDO:0000001 Orphanet:402020 Orphanet:377788 disease +MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) MONDO:0000001 Orphanet:402023 Orphanet:377788 disease +MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations MONDO:0000001 Orphanet:402026 Orphanet:377788 disease +MONDO:0018439 eosinophilic colitis MONDO:0000001 Orphanet:402035 Orphanet:377788 disease +MONDO:0018439 eosinophilic colitis MONDO:0018438 Orphanet:402035 Orphanet:402029 eosinophilic gastrointestinal disease +MONDO:0018447 chondromyxoid fibroma MONDO:0000001 Orphanet:404507 Orphanet:377788 disease +MONDO:0018447 chondromyxoid fibroma MONDO:0019060 Orphanet:404507 Orphanet:68411 bone neoplasm +MONDO:0018449 acquired cystic disease-associated renal cell carcinoma MONDO:0000001 Orphanet:404514 Orphanet:377788 disease +MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 MONDO:0000001 Orphanet:404521 Orphanet:377788 disease +MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0000001 Orphanet:404560 Orphanet:377788 disease +MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0000001 Orphanet:405 Orphanet:377788 disease +MONDO:0018459 isolated glycerol kinase deficiency MONDO:0000001 Orphanet:408 Orphanet:377788 disease +MONDO:0018460 Eales disease MONDO:0000001 Orphanet:40923 Orphanet:377788 disease +MONDO:0018465 insulin autoimmune syndrome MONDO:0000001 Orphanet:411593 Orphanet:377788 disease +MONDO:0018467 nephropathic infantile cystinosis MONDO:0016239 Orphanet:411629 Orphanet:213 cystinosis +MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia MONDO:0000001 Orphanet:411696 Orphanet:377788 disease +MONDO:0018469 pulmonary non-tuberculous mycobacterial infection MONDO:0000001 Orphanet:411703 Orphanet:377788 disease +MONDO:0018471 generalized eruptive keratoacanthoma MONDO:0000001 Orphanet:411777 Orphanet:377788 disease +MONDO:0018472 familial isolated trichomegaly MONDO:0000001 Orphanet:411788 Orphanet:377788 disease +MONDO:0018473 hyperlipoproteinemia type 3 MONDO:0000001 Orphanet:412 Orphanet:377788 disease +MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO:0000001 Orphanet:412066 Orphanet:377788 disease +MONDO:0018476 dystonia-aphonia syndrome MONDO:0000001 Orphanet:412217 Orphanet:377788 disease +MONDO:0018480 carcinoma of esophagus, salivary gland type MONDO:0000001 Orphanet:418945 Orphanet:377788 disease +MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0000001 Orphanet:418951 Orphanet:377788 disease +MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0019086 Orphanet:418951 Orphanet:70482 carcinoma of esophagus +MONDO:0018483 secondary pulmonary alveolar proteinosis MONDO:0000001 Orphanet:420259 Orphanet:377788 disease +MONDO:0018486 visual snow syndrome MONDO:0000001 Orphanet:420556 Orphanet:377788 disease +MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency MONDO:0000001 Orphanet:420699 Orphanet:377788 disease +MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO:0000001 Orphanet:420789 Orphanet:377788 disease +MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0000001 Orphanet:422526 Orphanet:377788 disease +MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0000001 Orphanet:423 Orphanet:377788 disease +MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0000001 Orphanet:423479 Orphanet:377788 disease +MONDO:0018500 cutaneous larva migrans MONDO:0000001 Orphanet:423717 Orphanet:377788 disease +MONDO:0018504 undifferentiated carcinoma of stomach MONDO:0000001 Orphanet:423786 Orphanet:377788 disease +MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome MONDO:0000001 Orphanet:423894 Orphanet:377788 disease +MONDO:0018509 squamous cell carcinoma of the small intestine MONDO:0000001 Orphanet:423968 Orphanet:377788 disease +MONDO:0018513 squamous cell carcinoma of colon MONDO:0000001 Orphanet:423994 Orphanet:377788 disease +MONDO:0018515 squamous cell carcinoma of rectum MONDO:0000001 Orphanet:424002 Orphanet:377788 disease +MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0000001 Orphanet:424039 Orphanet:377788 disease +MONDO:0018523 pancreatic mucinous cystadenoma MONDO:0000001 Orphanet:424053 Orphanet:377788 disease +MONDO:0018525 solid pseudopapillary carcinoma of pancreas MONDO:0000001 Orphanet:424065 Orphanet:377788 disease +MONDO:0018528 congenital myopathy with myasthenic-like onset MONDO:0000001 Orphanet:424107 Orphanet:377788 disease +MONDO:0018528 congenital myopathy with myasthenic-like onset MONDO:0019952 Orphanet:424107 Orphanet:97245 congenital myopathy +MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract MONDO:0000001 Orphanet:424970 Orphanet:377788 disease +MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract MONDO:0000001 Orphanet:424975 Orphanet:377788 disease +MONDO:0018535 biliary cystadenocarcinoma MONDO:0000001 Orphanet:424982 Orphanet:377788 disease +MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract MONDO:0000001 Orphanet:424991 Orphanet:377788 disease +MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract MONDO:0000001 Orphanet:424996 Orphanet:377788 disease +MONDO:0018540 PFAPA syndrome MONDO:0000001 Orphanet:42642 Orphanet:377788 disease +MONDO:0018541 familial hypoaldosteronism MONDO:0000001 Orphanet:427 Orphanet:377788 disease +MONDO:0018544 adrenoleukodystrophy MONDO:0000001 Orphanet:43 Orphanet:377788 disease +MONDO:0018544 adrenoleukodystrophy MONDO:0024237 Orphanet:43 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0018546 serotonin syndrome MONDO:0000001 Orphanet:43116 Orphanet:377788 disease +MONDO:0018556 Lambert-Eaton myasthenic syndrome MONDO:0000001 Orphanet:43393 Orphanet:377788 disease +MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0000001 Orphanet:435804 Orphanet:377788 disease +MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation MONDO:0000001 Orphanet:435819 Orphanet:377788 disease +MONDO:0018570 hypophosphatasia MONDO:0000001 Orphanet:436 Orphanet:377788 disease +MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO:0000001 Orphanet:436144 Orphanet:377788 disease +MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0000001 Orphanet:436271 Orphanet:377788 disease +MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO:0000001 Orphanet:436274 Orphanet:377788 disease +MONDO:0018582 GCGR-related hyperglucagonemia MONDO:0000001 Orphanet:438274 Orphanet:377788 disease +MONDO:0018583 human infection by orthopoxvirus MONDO:0000001 Orphanet:438279 Orphanet:377788 disease +MONDO:0018587 non-recovering obstetric brachial plexus lesion MONDO:0000001 Orphanet:439202 Orphanet:377788 disease +MONDO:0018588 ALECT2 amyloidosis MONDO:0000001 Orphanet:439224 Orphanet:377788 disease +MONDO:0018589 AApoAIV amyloidosis MONDO:0000001 Orphanet:439232 Orphanet:377788 disease +MONDO:0018591 ITM2B amyloidosis MONDO:0000001 Orphanet:439254 Orphanet:377788 disease +MONDO:0018591 ITM2B amyloidosis MONDO:0019065 Orphanet:439254 Orphanet:69 amyloidosis +MONDO:0018599 congenital oculomotor nerve palsy MONDO:0000001 Orphanet:440221 Orphanet:377788 disease +MONDO:0018599 congenital oculomotor nerve palsy MONDO:0001309 Orphanet:440221 Orphanet:98685 oculomotor nerve paralysis +MONDO:0018600 congenital abducens nerve palsy MONDO:0000001 Orphanet:440233 Orphanet:377788 disease +MONDO:0018602 necrotizing soft tissue infection MONDO:0000001 Orphanet:440368 Orphanet:377788 disease +MONDO:0018603 SFTPC- related interstitial lung disease MONDO:0000001 Orphanet:440392 Orphanet:377788 disease +MONDO:0018604 familial colorectal cancer type X MONDO:0000001 Orphanet:440437 Orphanet:377788 disease +MONDO:0018606 extensive peripapillary myelinated nerve fibers MONDO:0000001 Orphanet:440724 Orphanet:377788 disease +MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium MONDO:0000001 Orphanet:440727 Orphanet:377788 disease +MONDO:0018608 pure autonomic failure MONDO:0000001 Orphanet:441 Orphanet:377788 disease +MONDO:0018611 early-onset lamellar cataract MONDO:0020379 Orphanet:441452 Orphanet:98995 early-onset zonular cataract +MONDO:0018613 AH amyloidosis MONDO:0000001 Orphanet:442582 Orphanet:377788 disease +MONDO:0018614 undetermined early-onset epileptic encephalopathy MONDO:0000001 Orphanet:442835 Orphanet:377788 disease +MONDO:0018615 hemicrania continua MONDO:0000001 Orphanet:443070 Orphanet:377788 disease +MONDO:0018616 central serous chorioretinopathy MONDO:0000001 Orphanet:443079 Orphanet:377788 disease +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:0000001 Orphanet:443101 Orphanet:377788 disease +MONDO:0018621 lymphoplasmacytic lymphoma without IgM production MONDO:0000001 Orphanet:443159 Orphanet:377788 disease +MONDO:0018623 postpartum psychosis MONDO:0000001 Orphanet:443173 Orphanet:377788 disease +MONDO:0018624 spontaneous intracranial hypotension MONDO:0000001 Orphanet:443180 Orphanet:377788 disease +MONDO:0018626 paratyphoid fever MONDO:0000001 Orphanet:443227 Orphanet:377788 disease +MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0000001 Orphanet:444 Orphanet:377788 disease +MONDO:0018635 idiopathic phalangeal acro-osteolysis MONDO:0000001 Orphanet:444316 Orphanet:377788 disease +MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO:0000001 Orphanet:444463 Orphanet:377788 disease +MONDO:0018637 familial chylomicronemia syndrome MONDO:0000001 Orphanet:444490 Orphanet:377788 disease +MONDO:0018642 NIK deficiency MONDO:0000001 Orphanet:447731 Orphanet:377788 disease +MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B MONDO:0000001 Orphanet:447757 Orphanet:377788 disease +MONDO:0018647 secondary sclerosing cholangitis MONDO:0000001 Orphanet:447774 Orphanet:377788 disease +MONDO:0018648 Keratocystic odontogenic tumor MONDO:0000001 Orphanet:447777 Orphanet:377788 disease +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0000001 Orphanet:447961 Orphanet:377788 disease +MONDO:0018661 Zika virus infectious disease MONDO:0000001 Orphanet:448237 Orphanet:377788 disease +MONDO:0018666 hepatoblastoma MONDO:0000001 Orphanet:449 Orphanet:377788 disease +MONDO:0018668 scedosporiosis MONDO:0000001 Orphanet:449280 Orphanet:377788 disease +MONDO:0018669 snakebite envenomation MONDO:0000001 Orphanet:449285 Orphanet:377788 disease +MONDO:0018670 symptomatic form of fragile X syndrome in female carrier MONDO:0000001 Orphanet:449291 Orphanet:377788 disease +MONDO:0018670 symptomatic form of fragile X syndrome in female carrier MONDO:0019852 Orphanet:449291 Orphanet:95710 inherited primary ovarian failure +MONDO:0018676 eosinophilic angiocentric fibrosis MONDO:0000001 Orphanet:449566 Orphanet:377788 disease +MONDO:0018679 primary cutaneous plasmacytosis MONDO:0000001 Orphanet:451602 Orphanet:377788 disease +MONDO:0018680 cutaneous pseudolymphoma MONDO:0000001 Orphanet:451607 Orphanet:377788 disease +MONDO:0018682 congenital insensitivity to pain with severe intellectual disability MONDO:0000001 Orphanet:453510 Orphanet:377788 disease +MONDO:0018683 acquired ichthyosis MONDO:0000001 Orphanet:454 Orphanet:377788 disease +MONDO:0018684 idiopathic neonatal atrial flutter MONDO:0000001 Orphanet:45452 Orphanet:377788 disease +MONDO:0018685 incessant infant ventricular tachycardia MONDO:0000001 Orphanet:45453 Orphanet:377788 disease +MONDO:0018687 progressive muscular atrophy MONDO:0000001 Orphanet:454706 Orphanet:377788 disease +MONDO:0018687 progressive muscular atrophy MONDO:0020128 Orphanet:454706 Orphanet:98503 motor neuron disorder +MONDO:0018688 anti-p200 pemphigoid MONDO:0000001 Orphanet:454710 Orphanet:377788 disease +MONDO:0018689 plasma cell leukemia MONDO:0000001 Orphanet:454714 Orphanet:377788 disease +MONDO:0018690 Holmes-Adie syndrome MONDO:0000001 Orphanet:454718 Orphanet:377788 disease +MONDO:0018692 variably protease-sensitive prionopathy MONDO:0000001 Orphanet:454742 Orphanet:377788 disease +MONDO:0018695 avian influenza MONDO:0000001 Orphanet:454836 Orphanet:377788 disease +MONDO:0018696 corticobasal syndrome MONDO:0000001 Orphanet:454887 Orphanet:377788 disease +MONDO:0018698 hereditary neuroendocrine tumor of small intestine MONDO:0000001 Orphanet:456333 Orphanet:377788 disease +MONDO:0018702 Castleman-Kojima disease MONDO:0000001 Orphanet:457077 Orphanet:377788 disease +MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0000001 Orphanet:457205 Orphanet:377788 disease +MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome MONDO:0000001 Orphanet:457260 Orphanet:377788 disease +MONDO:0018712 composite hemangioendothelioma MONDO:0000001 Orphanet:458758 Orphanet:377788 disease +MONDO:0018713 retiform hemangioendothelioma MONDO:0000001 Orphanet:458763 Orphanet:377788 disease +MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0000001 Orphanet:458768 Orphanet:377788 disease +MONDO:0018716 partially involuting congenital hemangioma MONDO:0000001 Orphanet:458785 Orphanet:377788 disease +MONDO:0018734 verrucous hemangioma MONDO:0000001 Orphanet:464318 Orphanet:377788 disease +MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0000001 Orphanet:464321 Orphanet:377788 disease +MONDO:0018736 kaposiform lymphangiomatosis MONDO:0000001 Orphanet:464329 Orphanet:377788 disease +MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0000001 Orphanet:464343 Orphanet:377788 disease +MONDO:0018738 benign metanephric tumor MONDO:0000001 Orphanet:464359 Orphanet:377788 disease +MONDO:0018739 neonatal alloimmune neutropenia MONDO:0000001 Orphanet:464370 Orphanet:377788 disease +MONDO:0018740 drug-induced methemoglobinemia MONDO:0000001 Orphanet:464453 Orphanet:377788 disease +MONDO:0018742 familial gastric type 1 neuroendocrine tumor MONDO:0000001 Orphanet:464756 Orphanet:377788 disease +MONDO:0018744 oligodendroglial tumor MONDO:0021042 Orphanet:46484 Orphanet:182067 glioma +MONDO:0018746 mucous membrane pemphigoid MONDO:0000001 Orphanet:46486 Orphanet:377788 disease +MONDO:0018747 acquired epidermolysis bullosa MONDO:0000001 Orphanet:46487 Orphanet:377788 disease +MONDO:0018748 linear IgA Dermatosis MONDO:0000001 Orphanet:46488 Orphanet:377788 disease +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome MONDO:0000001 Orphanet:46532 Orphanet:377788 disease +MONDO:0018752 exercise-induced malignant hyperthermia MONDO:0000001 Orphanet:466650 Orphanet:377788 disease +MONDO:0018755 scorpion envenomation MONDO:0000001 Orphanet:466677 Orphanet:377788 disease +MONDO:0018756 euthyroid Graves orbitopathy MONDO:0000001 Orphanet:466682 Orphanet:377788 disease +MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome MONDO:0000001 Orphanet:466921 Orphanet:377788 disease +MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO:0000001 Orphanet:466962 Orphanet:377788 disease +MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0000001 Orphanet:467166 Orphanet:377788 disease +MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis MONDO:0000001 Orphanet:468635 Orphanet:377788 disease +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:0000001 Orphanet:468641 Orphanet:377788 disease +MONDO:0018767 severe primary trimethylaminuria MONDO:0000001 Orphanet:468726 Orphanet:377788 disease +MONDO:0018768 familial cold autoinflammatory syndrome MONDO:0000001 Orphanet:47045 Orphanet:377788 disease +MONDO:0018769 isosporiasis MONDO:0000001 Orphanet:472 Orphanet:377788 disease +MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0000001 Orphanet:476093 Orphanet:377788 disease +MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0000001 Orphanet:476406 Orphanet:377788 disease +MONDO:0018781 KID syndrome MONDO:0000001 Orphanet:477 Orphanet:377788 disease +MONDO:0018783 fibroblastic rheumatism MONDO:0000001 Orphanet:477650 Orphanet:377788 disease +MONDO:0018784 pediatric multiple sclerosis MONDO:0000001 Orphanet:477738 Orphanet:377788 disease +MONDO:0018793 primary condylar hyperplasia MONDO:0000001 Orphanet:477781 Orphanet:377788 disease +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0000001 Orphanet:477787 Orphanet:377788 disease +MONDO:0018806 primary intrahepatic lithiasis MONDO:0000001 Orphanet:480506 Orphanet:377788 disease +MONDO:0018807 idiopathic ductopenia MONDO:0000001 Orphanet:480512 Orphanet:377788 disease +MONDO:0018809 idiopathic peliosis hepatis MONDO:0000001 Orphanet:480524 Orphanet:377788 disease +MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement MONDO:0000001 Orphanet:480541 Orphanet:377788 disease +MONDO:0018815 aneurysmal bone cyst MONDO:0000001 Orphanet:480553 Orphanet:377788 disease +MONDO:0018816 isolated neonatal sclerosing cholangitis MONDO:0000001 Orphanet:480556 Orphanet:377788 disease +MONDO:0018818 facial diplegia with paresthesias MONDO:0000001 Orphanet:480701 Orphanet:377788 disease +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0000001 Orphanet:480864 Orphanet:377788 disease +MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0000001 Orphanet:480898 Orphanet:377788 disease +MONDO:0018824 pyoderma gangrenosum MONDO:0000001 Orphanet:48104 Orphanet:377788 disease +MONDO:0018827 familial chilblain lupus MONDO:0000001 Orphanet:481662 Orphanet:377788 disease +MONDO:0018827 familial chilblain lupus MONDO:0015574 Orphanet:481662 Orphanet:163531 chronic cutaneous lupus erythematosus +MONDO:0018827 familial chilblain lupus MONDO:0019293 Orphanet:481662 Orphanet:79379 skin vascular disease +MONDO:0018827 familial chilblain lupus MONDO:0700264 Orphanet:481662 Orphanet:477647 type 1 interferonopathy +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0000001 Orphanet:481665 Orphanet:377788 disease +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0700264 Orphanet:481665 Orphanet:477647 type 1 interferonopathy +MONDO:0018830 Kimura disease MONDO:0000001 Orphanet:482 Orphanet:377788 disease +MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease MONDO:0000001 Orphanet:482077 Orphanet:377788 disease +MONDO:0018837 postinfectious vasculitis MONDO:0000001 Orphanet:48435 Orphanet:377788 disease +MONDO:0018840 isolated congenital hepatic fibrosis MONDO:0000001 Orphanet:485426 Orphanet:377788 disease +MONDO:0018842 primary effusion lymphoma MONDO:0000001 Orphanet:48686 Orphanet:377788 disease +MONDO:0018842 primary effusion lymphoma MONDO:0017595 Orphanet:48686 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma +MONDO:0018845 focal myositis MONDO:0000001 Orphanet:48918 Orphanet:377788 disease +MONDO:0018849 dentinogenesis imperfecta MONDO:0000001 Orphanet:49042 Orphanet:377788 disease +MONDO:0018850 proliferating trichilemmal cyst MONDO:0000001 Orphanet:492 Orphanet:377788 disease +MONDO:0018851 familial keratoacanthoma MONDO:0000001 Orphanet:493 Orphanet:377788 disease +MONDO:0018852 achromatopsia MONDO:0000001 Orphanet:49382 Orphanet:377788 disease +MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma MONDO:0000001 Orphanet:495 Orphanet:377788 disease +MONDO:0018854 acquired purpura fulminans MONDO:0000001 Orphanet:49566 Orphanet:377788 disease +MONDO:0018856 lichen amyloidosis MONDO:0000001 Orphanet:49804 Orphanet:377788 disease +MONDO:0018857 creeping myiasis MONDO:0000001 Orphanet:504 Orphanet:377788 disease +MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome MONDO:0000001 Orphanet:505 Orphanet:377788 disease +MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0000001 Orphanet:50812 Orphanet:377788 disease +MONDO:0018864 Kikuchi-Fujimoto disease MONDO:0000001 Orphanet:50918 Orphanet:377788 disease +MONDO:0018865 striate palmoplantar keratoderma MONDO:0000001 Orphanet:50942 Orphanet:377788 disease +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0000001 Orphanet:51 Orphanet:377788 disease +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0700264 Orphanet:51 Orphanet:477647 type 1 interferonopathy +MONDO:0018868 metachromatic leukodystrophy MONDO:0000001 Orphanet:512 Orphanet:377788 disease +MONDO:0018870 arterial calcification of infancy MONDO:0000001 Orphanet:51608 Orphanet:377788 disease +MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0000001 Orphanet:517 Orphanet:377788 disease +MONDO:0018872 acute megakaryoblastic leukemia MONDO:0000001 Orphanet:518 Orphanet:377788 disease +MONDO:0018873 anterior cutaneous nerve entrapment syndrome MONDO:0000001 Orphanet:51890 Orphanet:377788 disease +MONDO:0018874 acute myeloid leukemia MONDO:0015756 Orphanet:519 Orphanet:171895 myeloid hemopathy +MONDO:0018875 Li-Fraumeni syndrome MONDO:0000001 Orphanet:524 Orphanet:377788 disease +MONDO:0018876 mantle cell lymphoma MONDO:0000001 Orphanet:52416 Orphanet:377788 disease +MONDO:0018877 retinitis punctata albescens MONDO:0000001 Orphanet:52427 Orphanet:377788 disease +MONDO:0018879 lichen planopilaris MONDO:0000001 Orphanet:525 Orphanet:377788 disease +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0000001 Orphanet:528 Orphanet:377788 disease +MONDO:0018884 Roch-Leri mesosomatous lipomatosis MONDO:0000001 Orphanet:529 Orphanet:377788 disease +MONDO:0018885 orbital leiomyoma MONDO:0000001 Orphanet:52994 Orphanet:377788 disease +MONDO:0018889 hyaline body myopathy MONDO:0000001 Orphanet:53698 Orphanet:377788 disease +MONDO:0018891 familial tumoral calcinosis MONDO:0000001 Orphanet:53715 Orphanet:377788 disease +MONDO:0018895 Plummer-Vinson syndrome MONDO:0000001 Orphanet:54028 Orphanet:377788 disease +MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0000001 Orphanet:54057 Orphanet:377788 disease +MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0019737 Orphanet:54057 Orphanet:93573 thrombotic microangiopathy +MONDO:0018899 posterior cortical atrophy MONDO:0000001 Orphanet:54247 Orphanet:377788 disease +MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome MONDO:0000001 Orphanet:54251 Orphanet:377788 disease +MONDO:0018901 left ventricular noncompaction MONDO:0000001 Orphanet:54260 Orphanet:377788 disease +MONDO:0018902 hepatocellular adenoma MONDO:0000001 Orphanet:54272 Orphanet:377788 disease +MONDO:0018903 sarcocystosis MONDO:0000001 Orphanet:54368 Orphanet:377788 disease +MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:0000001 Orphanet:54370 Orphanet:377788 disease +MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:0019722 Orphanet:54370 Orphanet:93548 glomerular disorder +MONDO:0018906 follicular lymphoma MONDO:0000001 Orphanet:545 Orphanet:377788 disease +MONDO:0018907 craniopharyngioma MONDO:0000001 Orphanet:54595 Orphanet:377788 disease +MONDO:0018911 maturity-onset diabetes of the young MONDO:0000001 Orphanet:552 Orphanet:377788 disease +MONDO:0018913 malakoplakia MONDO:0000001 Orphanet:556 Orphanet:377788 disease +MONDO:0018914 hypotrichosis simplex MONDO:0000001 Orphanet:55654 Orphanet:377788 disease +MONDO:0018919 McCune-Albright syndrome MONDO:0000001 Orphanet:562 Orphanet:377788 disease +MONDO:0018920 peripartum cardiomyopathy MONDO:0000001 Orphanet:563 Orphanet:377788 disease +MONDO:0018922 cold agglutinin disease MONDO:0000001 Orphanet:56425 Orphanet:377788 disease +MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0000001 Orphanet:569 Orphanet:377788 disease +MONDO:0018927 SUNCT syndrome MONDO:0000001 Orphanet:57145 Orphanet:377788 disease +MONDO:0018929 medial condensing osteitis of the clavicle MONDO:0000001 Orphanet:57196 Orphanet:377788 disease +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0000001 Orphanet:577 Orphanet:377788 disease +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0019248 Orphanet:577 Orphanet:79212 mucolipidosis +MONDO:0018932 cirrhotic cardiomyopathy MONDO:0000001 Orphanet:57777 Orphanet:377788 disease +MONDO:0018935 hairy cell leukemia MONDO:0000001 Orphanet:58017 Orphanet:377788 disease +MONDO:0018935 hairy cell leukemia MONDO:0017594 Orphanet:58017 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma +MONDO:0018936 osteoblastoma MONDO:0000001 Orphanet:58040 Orphanet:377788 disease +MONDO:0018936 osteoblastoma MONDO:0019060 Orphanet:58040 Orphanet:68411 bone neoplasm +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0000001 Orphanet:581 Orphanet:377788 disease +MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0000001 Orphanet:582 Orphanet:377788 disease +MONDO:0018940 congenital myasthenic syndrome MONDO:0000001 Orphanet:590 Orphanet:377788 disease +MONDO:0018941 furuncular myiasis MONDO:0000001 Orphanet:591 Orphanet:377788 disease +MONDO:0018942 macrophagic myofasciitis MONDO:0000001 Orphanet:592 Orphanet:377788 disease +MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0000001 Orphanet:59306 Orphanet:377788 disease +MONDO:0018948 multiminicore myopathy MONDO:0000001 Orphanet:598 Orphanet:377788 disease +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0000001 Orphanet:6 Orphanet:377788 disease +MONDO:0018951 distal myopathy with vocal cord weakness MONDO:0000001 Orphanet:600 Orphanet:377788 disease +MONDO:0018952 argyria MONDO:0000001 Orphanet:60014 Orphanet:377788 disease +MONDO:0018955 recurrent respiratory papillomatosis MONDO:0000001 Orphanet:60032 Orphanet:377788 disease +MONDO:0018956 idiopathic bronchiectasis MONDO:0000001 Orphanet:60033 Orphanet:377788 disease +MONDO:0018957 pudendal neuralgia MONDO:0000001 Orphanet:60039 Orphanet:377788 disease +MONDO:0018961 familial melanoma MONDO:0000001 Orphanet:618 Orphanet:377788 disease +MONDO:0018963 hereditary methemoglobinemia MONDO:0000001 Orphanet:621 Orphanet:377788 disease +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0000001 Orphanet:622 Orphanet:377788 disease +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0019222 Orphanet:622 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0018965 Alport syndrome MONDO:0000001 Orphanet:63 Orphanet:377788 disease +MONDO:0018974 paraneoplastic pemphigus MONDO:0000001 Orphanet:63455 Orphanet:377788 disease +MONDO:0018975 neurofibromatosis type 1 MONDO:0000001 Orphanet:636 Orphanet:377788 disease +MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0000001 Orphanet:639 Orphanet:377788 disease +MONDO:0018979 multifocal motor neuropathy MONDO:0000001 Orphanet:641 Orphanet:377788 disease +MONDO:0018981 benign idiopathic neonatal seizures MONDO:0000001 Orphanet:64545 Orphanet:377788 disease +MONDO:0018982 Niemann-Pick disease type C MONDO:0000001 Orphanet:646 Orphanet:377788 disease +MONDO:0018982 Niemann-Pick disease type C MONDO:0019245 Orphanet:646 Orphanet:79204 lysosomal lipid storage disorder +MONDO:0018983 Tolosa-Hunt syndrome MONDO:0000001 Orphanet:64686 Orphanet:377788 disease +MONDO:0018984 Oroya fever MONDO:0000001 Orphanet:64692 Orphanet:377788 disease +MONDO:0018987 granulomatous mastitis MONDO:0000001 Orphanet:64722 Orphanet:377788 disease +MONDO:0018988 iridocorneal endothelial syndrome MONDO:0000001 Orphanet:64734 Orphanet:377788 disease +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0000001 Orphanet:64753 Orphanet:377788 disease +MONDO:0018998 Leber congenital amaurosis MONDO:0000001 Orphanet:65 Orphanet:377788 disease +MONDO:0018999 LCAT deficiency MONDO:0000001 Orphanet:650 Orphanet:377788 disease +MONDO:0019002 Lhermitte-Duclos disease MONDO:0000001 Orphanet:65285 Orphanet:377788 disease +MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0000001 Orphanet:653 Orphanet:377788 disease +MONDO:0019004 kidney Wilms tumor MONDO:0000001 Orphanet:654 Orphanet:377788 disease +MONDO:0019005 nephronophthisis MONDO:0000001 Orphanet:655 Orphanet:377788 disease +MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome MONDO:0000001 Orphanet:656 Orphanet:377788 disease +MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0000001 Orphanet:65682 Orphanet:377788 disease +MONDO:0019009 isolated focal cortical dysplasia MONDO:0000001 Orphanet:65683 Orphanet:377788 disease +MONDO:0019012 Carpenter syndrome MONDO:0015338 Orphanet:65759 Orphanet:139393 syndromic craniosynostosis +MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0000001 Orphanet:663 Orphanet:377788 disease +MONDO:0019017 short fifth metacarpals-insulin resistance syndrome MONDO:0000001 Orphanet:66518 Orphanet:377788 disease +MONDO:0019018 Tako-tsubo cardiomyopathy MONDO:0000001 Orphanet:66529 Orphanet:377788 disease +MONDO:0019019 osteogenesis imperfecta MONDO:0000001 Orphanet:666 Orphanet:377788 disease +MONDO:0019020 PANDAS MONDO:0000001 Orphanet:66624 Orphanet:377788 disease +MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0000001 Orphanet:66633 Orphanet:377788 disease +MONDO:0019024 mast cell sarcoma MONDO:0000001 Orphanet:66661 Orphanet:377788 disease +MONDO:0019025 extracutaneous mastocytoma MONDO:0000001 Orphanet:66662 Orphanet:377788 disease +MONDO:0019025 extracutaneous mastocytoma MONDO:0007950 Orphanet:66662 Orphanet:98292 mastocytosis +MONDO:0019028 amoebiasis due to Entamoeba histolytica MONDO:0000001 Orphanet:67 Orphanet:377788 disease +MONDO:0019029 segmental odontomaxillary dysplasia MONDO:0000001 Orphanet:67039 Orphanet:377788 disease +MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia MONDO:0000001 Orphanet:67044 Orphanet:377788 disease +MONDO:0019035 pancreatoblastoma MONDO:0000001 Orphanet:677 Orphanet:377788 disease +MONDO:0019036 amoebiasis due to free-living amoebae MONDO:0000001 Orphanet:68 Orphanet:377788 disease +MONDO:0019037 progressive supranuclear palsy MONDO:0000001 Orphanet:683 Orphanet:377788 disease +MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization MONDO:0000001 Orphanet:69063 Orphanet:377788 disease +MONDO:0019074 bilateral acute depigmentation of the iris MONDO:0000001 Orphanet:69736 Orphanet:377788 disease +MONDO:0019076 circumscribed palmoplantar hypokeratosis MONDO:0000001 Orphanet:69744 Orphanet:377788 disease +MONDO:0019077 warty dyskeratoma MONDO:0000001 Orphanet:69745 Orphanet:377788 disease +MONDO:0019079 proximal spinal muscular atrophy MONDO:0000001 Orphanet:70 Orphanet:377788 disease +MONDO:0019079 proximal spinal muscular atrophy MONDO:0024257 Orphanet:70 Orphanet:98505 hereditary motor neuron disease +MONDO:0019080 alopecia totalis MONDO:0000001 Orphanet:700 Orphanet:377788 disease +MONDO:0019082 bullous pemphigoid MONDO:0000001 Orphanet:703 Orphanet:377788 disease +MONDO:0019084 radiation proctitis MONDO:0000001 Orphanet:70475 Orphanet:377788 disease +MONDO:0019085 vernal keratoconjunctivitis MONDO:0000001 Orphanet:70476 Orphanet:377788 disease +MONDO:0019087 cholangiocarcinoma MONDO:0000001 Orphanet:70567 Orphanet:377788 disease +MONDO:0019087 cholangiocarcinoma MONDO:0018531 Orphanet:70567 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract +MONDO:0019087 cholangiocarcinoma MONDO:0018918 Orphanet:70567 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract +MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0000001 Orphanet:70568 Orphanet:377788 disease +MONDO:0019092 infantile apnea MONDO:0000001 Orphanet:70590 Orphanet:377788 disease +MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency MONDO:0000001 Orphanet:70593 Orphanet:377788 disease +MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0000001 Orphanet:70596 Orphanet:377788 disease +MONDO:0019095 plague MONDO:0000001 Orphanet:707 Orphanet:377788 disease +MONDO:0019100 neuromyelitis optica MONDO:0000001 Orphanet:71211 Orphanet:377788 disease +MONDO:0019101 retinal capillary malformation MONDO:0000001 Orphanet:71213 Orphanet:377788 disease +MONDO:0019104 Sandifer syndrome MONDO:0000001 Orphanet:71272 Orphanet:377788 disease +MONDO:0019105 renal nutcracker syndrome MONDO:0000001 Orphanet:71273 Orphanet:377788 disease +MONDO:0019107 Rh deficiency syndrome MONDO:0000001 Orphanet:71275 Orphanet:377788 disease +MONDO:0019108 silent sinus syndrome MONDO:0000001 Orphanet:71276 Orphanet:377788 disease +MONDO:0019109 CANOMAD syndrome MONDO:0000001 Orphanet:71279 Orphanet:377788 disease +MONDO:0019111 familial thrombocytosis MONDO:0000001 Orphanet:71493 Orphanet:377788 disease +MONDO:0019112 cancer-associated retinopathy MONDO:0000001 Orphanet:71505 Orphanet:377788 disease +MONDO:0019113 benign paroxysmal torticollis of infancy MONDO:0000001 Orphanet:71518 Orphanet:377788 disease +MONDO:0019120 pili bifurcati MONDO:0000001 Orphanet:720 Orphanet:377788 disease +MONDO:0019121 pneumocystosis MONDO:0000001 Orphanet:723 Orphanet:377788 disease +MONDO:0019122 idiopathic acute eosinophilic pneumonia MONDO:0000001 Orphanet:724 Orphanet:377788 disease +MONDO:0019123 continuous spikes and waves during sleep MONDO:0000001 Orphanet:725 Orphanet:377788 disease +MONDO:0019123 continuous spikes and waves during sleep MONDO:0020072 Orphanet:725 Orphanet:98259 childhood-onset epilepsy syndrome +MONDO:0019124 microscopic polyangiitis MONDO:0000001 Orphanet:727 Orphanet:377788 disease +MONDO:0019125 relapsing polychondritis MONDO:0000001 Orphanet:728 Orphanet:377788 disease +MONDO:0019127 polymyositis MONDO:0000001 Orphanet:732 Orphanet:377788 disease +MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0000001 Orphanet:73224 Orphanet:377788 disease +MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0000001 Orphanet:73230 Orphanet:377788 disease +MONDO:0019134 central neurocytoma MONDO:0000001 Orphanet:73256 Orphanet:377788 disease +MONDO:0019136 Zygomycosis MONDO:0000001 Orphanet:73263 Orphanet:377788 disease +MONDO:0019137 non-24-hour sleep-wake syndrome MONDO:0000001 Orphanet:73267 Orphanet:377788 disease +MONDO:0019140 acute ackee fruit intoxication MONDO:0000001 Orphanet:73423 Orphanet:377788 disease +MONDO:0019141 porokeratosis of Mibelli MONDO:0000001 Orphanet:735 Orphanet:377788 disease +MONDO:0019143 angiostrongyliasis MONDO:0000001 Orphanet:74 Orphanet:377788 disease +MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency MONDO:0000001 Orphanet:743 Orphanet:377788 disease +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:0000001 Orphanet:745 Orphanet:377788 disease +MONDO:0019151 oligocone trichromacy MONDO:0000001 Orphanet:75378 Orphanet:377788 disease +MONDO:0019155 Leydig cell hypoplasia MONDO:0000001 Orphanet:755 Orphanet:377788 disease +MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0000001 Orphanet:75564 Orphanet:377788 disease +MONDO:0019158 tropical endomyocardial fibrosis MONDO:0000001 Orphanet:75565 Orphanet:377788 disease +MONDO:0019159 Loeffler endocarditis MONDO:0000001 Orphanet:75566 Orphanet:377788 disease +MONDO:0019161 pseudohypoaldosteronism type 1 MONDO:0000001 Orphanet:756 Orphanet:377788 disease +MONDO:0019161 pseudohypoaldosteronism type 1 MONDO:0018638 Orphanet:756 Orphanet:444916 pseudohypoaldosteronism +MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:0000001 Orphanet:757 Orphanet:377788 disease +MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:0018638 Orphanet:757 Orphanet:444916 pseudohypoaldosteronism +MONDO:0019167 immunoglobulin A vasculitis MONDO:0000001 Orphanet:761 Orphanet:377788 disease +MONDO:0019168 pyomyositis MONDO:0000001 Orphanet:764 Orphanet:377788 disease +MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0000001 Orphanet:765 Orphanet:377788 disease +MONDO:0019170 polyarteritis nodosa MONDO:0000001 Orphanet:767 Orphanet:377788 disease +MONDO:0019171 familial long QT syndrome MONDO:0000001 Orphanet:101016 Orphanet:377788 disease +MONDO:0019173 rabies MONDO:0000001 Orphanet:770 Orphanet:377788 disease +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0000001 Orphanet:774 Orphanet:377788 disease +MONDO:0019186 Q fever MONDO:0000001 Orphanet:781 Orphanet:377788 disease +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0017287 Orphanet:79078 Orphanet:596448 IgG4-related disease +MONDO:0019192 AKT2-related familial partial lipodystrophy MONDO:0000001 Orphanet:79085 Orphanet:377788 disease +MONDO:0019193 acquired generalized lipodystrophy MONDO:0000001 Orphanet:79086 Orphanet:377788 disease +MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome MONDO:0000001 Orphanet:79091 Orphanet:377788 disease +MONDO:0019197 folinic acid-responsive seizures MONDO:0000001 Orphanet:79097 Orphanet:377788 disease +MONDO:0019198 sympathetic ophthalmia MONDO:0000001 Orphanet:79098 Orphanet:377788 disease +MONDO:0019199 interstitial granulomatous dermatitis with arthritis MONDO:0000001 Orphanet:79099 Orphanet:377788 disease +MONDO:0019200 retinitis pigmentosa MONDO:0000001 Orphanet:791 Orphanet:377788 disease +MONDO:0019201 thyrotoxic periodic paralysis MONDO:0000001 Orphanet:79102 Orphanet:377788 disease +MONDO:0019201 thyrotoxic periodic paralysis MONDO:0016122 Orphanet:79102 Orphanet:206976 periodic paralysis +MONDO:0019202 myxofibrosarcoma MONDO:0000001 Orphanet:79105 Orphanet:377788 disease +MONDO:0019203 acute interstitial pneumonia MONDO:0000001 Orphanet:79126 Orphanet:377788 disease +MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome MONDO:0000001 Orphanet:79127 Orphanet:377788 disease +MONDO:0019207 DEND syndrome MONDO:0000001 Orphanet:79134 Orphanet:377788 disease +MONDO:0019207 DEND syndrome MONDO:0016391 Orphanet:79134 Orphanet:224 neonatal diabetes mellitus +MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:0000001 Orphanet:79138 Orphanet:377788 disease +MONDO:0019209 Japanese encephalitis MONDO:0000001 Orphanet:79139 Orphanet:377788 disease +MONDO:0019209 Japanese encephalitis MONDO:0006009 Orphanet:79139 Orphanet:98252 viral encephalitis +MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0000001 Orphanet:79140 Orphanet:377788 disease +MONDO:0019211 isolated congenital anonychia MONDO:0000001 Orphanet:79143 Orphanet:377788 disease +MONDO:0019212 disseminated superficial actinic porokeratosis MONDO:0000001 Orphanet:79152 Orphanet:377788 disease +MONDO:0019255 sphingolipidosis MONDO:0002561 Orphanet:79225 Orphanet:68366 lysosomal storage disease +MONDO:0019257 hemochromatosis type 2 MONDO:0000001 Orphanet:79230 Orphanet:377788 disease +MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0000001 Orphanet:79278 Orphanet:377788 disease +MONDO:0019266 SAPHO syndrome MONDO:0000001 Orphanet:793 Orphanet:377788 disease +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:0000001 Orphanet:79394 Orphanet:377788 disease +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0000001 Orphanet:79402 Orphanet:377788 disease +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0017612 Orphanet:79402 Orphanet:305 junctional epidermolysis bullosa +MONDO:0019308 junctional epidermolysis bullosa inversa MONDO:0000001 Orphanet:79405 Orphanet:377788 disease +MONDO:0019309 late-onset junctional epidermolysis bullosa MONDO:0000001 Orphanet:79406 Orphanet:377788 disease +MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa MONDO:0000001 Orphanet:79409 Orphanet:377788 disease +MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa MONDO:0006543 Orphanet:79409 Orphanet:303 epidermolysis bullosa dystrophica +MONDO:0019311 wooly hair nevus MONDO:0000001 Orphanet:79414 Orphanet:377788 disease +MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0000001 Orphanet:79430 Orphanet:377788 disease +MONDO:0019314 cutaneous mastocytoma MONDO:0000001 Orphanet:79455 Orphanet:377788 disease +MONDO:0019315 diffuse cutaneous mastocytosis MONDO:0000001 Orphanet:79456 Orphanet:377788 disease +MONDO:0019316 maculopapular cutaneous mastocytosis MONDO:0000001 Orphanet:79457 Orphanet:377788 disease +MONDO:0019321 atypical Werner syndrome MONDO:0000001 Orphanet:79474 Orphanet:377788 disease +MONDO:0019322 pemphigus vegetans MONDO:0000001 Orphanet:79479 Orphanet:377788 disease +MONDO:0019322 pemphigus vegetans MONDO:0019337 Orphanet:79479 Orphanet:79669 autoimmune bullous skin disease +MONDO:0019323 pemphigus erythematosus MONDO:0000001 Orphanet:79480 Orphanet:377788 disease +MONDO:0019324 pemphigus foliaceus MONDO:0000001 Orphanet:79481 Orphanet:377788 disease +MONDO:0019330 pili gemini MONDO:0000001 Orphanet:79492 Orphanet:377788 disease +MONDO:0019332 punctate palmoplantar keratoderma type 1 MONDO:0000001 Orphanet:79501 Orphanet:377788 disease +MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency MONDO:0000001 Orphanet:79643 Orphanet:377788 disease +MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency MONDO:0000001 Orphanet:79644 Orphanet:377788 disease +MONDO:0019338 sarcoidosis MONDO:0000001 Orphanet:797 Orphanet:377788 disease +MONDO:0019344 antisynthetase syndrome MONDO:0000001 Orphanet:81 Orphanet:377788 disease +MONDO:0019345 shigellosis MONDO:0000001 Orphanet:810 Orphanet:377788 disease +MONDO:0019346 sialidosis type 1 MONDO:0000001 Orphanet:812 Orphanet:377788 disease +MONDO:0019349 Sotos syndrome MONDO:0000001 Orphanet:821 Orphanet:377788 disease +MONDO:0019350 hereditary spherocytosis MONDO:0000001 Orphanet:822 Orphanet:377788 disease +MONDO:0019353 Stargardt disease MONDO:0000001 Orphanet:827 Orphanet:377788 disease +MONDO:0019354 Stickler syndrome MONDO:0000001 Orphanet:828 Orphanet:377788 disease +MONDO:0019355 adult-onset Still disease MONDO:0000001 Orphanet:829 Orphanet:377788 disease +MONDO:0019357 congenital narrowing of cervical spinal canal MONDO:0000001 Orphanet:831 Orphanet:377788 disease +MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0000001 Orphanet:833 Orphanet:377788 disease +MONDO:0019359 Rocky mountain spotted fever MONDO:0000001 Orphanet:83311 Orphanet:377788 disease +MONDO:0019360 rickettsialpox MONDO:0000001 Orphanet:83312 Orphanet:377788 disease +MONDO:0019362 epidemic louse-borne typhus MONDO:0000001 Orphanet:83314 Orphanet:377788 disease +MONDO:0019364 pseudotyphus of California MONDO:0000001 Orphanet:83316 Orphanet:377788 disease +MONDO:0019365 scrub typhus MONDO:0000001 Orphanet:83317 Orphanet:377788 disease +MONDO:0019366 free sialic acid storage disease MONDO:0000001 Orphanet:834 Orphanet:377788 disease +MONDO:0019367 regional odontodysplasia MONDO:0000001 Orphanet:83450 Orphanet:377788 disease +MONDO:0019368 florid cemento-osseous dysplasia MONDO:0000001 Orphanet:83451 Orphanet:377788 disease +MONDO:0019369 complex regional pain syndrome MONDO:0000001 Orphanet:83452 Orphanet:377788 disease +MONDO:0019370 vulvovaginal gingival syndrome MONDO:0000001 Orphanet:83453 Orphanet:377788 disease +MONDO:0019371 narcolepsy without cataplexy MONDO:0000001 Orphanet:83465 Orphanet:377788 disease +MONDO:0019372 solitary bone cyst MONDO:0000001 Orphanet:83468 Orphanet:377788 disease +MONDO:0019373 desmoplastic small round cell tumor MONDO:0000001 Orphanet:83469 Orphanet:377788 disease +MONDO:0019376 West-Nile encephalitis MONDO:0000001 Orphanet:83476 Orphanet:377788 disease +MONDO:0019376 West-Nile encephalitis MONDO:0006009 Orphanet:83476 Orphanet:98252 viral encephalitis +MONDO:0019377 Mycoplasma encephalitis MONDO:0000001 Orphanet:83482 Orphanet:377788 disease +MONDO:0019378 la Crosse encephalitis MONDO:0000001 Orphanet:83483 Orphanet:377788 disease +MONDO:0019378 la Crosse encephalitis MONDO:0006009 Orphanet:83483 Orphanet:98252 viral encephalitis +MONDO:0019380 western equine encephalitis MONDO:0000001 Orphanet:83593 Orphanet:377788 disease +MONDO:0019380 western equine encephalitis MONDO:0006009 Orphanet:83593 Orphanet:98252 viral encephalitis +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0000001 Orphanet:83597 Orphanet:377788 disease +MONDO:0019384 encephalitis lethargica MONDO:0000001 Orphanet:83600 Orphanet:377788 disease +MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0000001 Orphanet:83601 Orphanet:377788 disease +MONDO:0019386 progressive rubella panencephalitis MONDO:0000001 Orphanet:83616 Orphanet:377788 disease +MONDO:0019390 Susac syndrome MONDO:0000001 Orphanet:838 Orphanet:377788 disease +MONDO:0019392 syringocystadenoma papilliferum MONDO:0000001 Orphanet:840 Orphanet:377788 disease +MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects MONDO:0000001 Orphanet:84065 Orphanet:377788 disease +MONDO:0019394 Senior-Boichis syndrome MONDO:0000001 Orphanet:84081 Orphanet:377788 disease +MONDO:0019395 Hinman syndrome MONDO:0000001 Orphanet:84085 Orphanet:377788 disease +MONDO:0019396 collagen type III glomerulopathy MONDO:0000001 Orphanet:84087 Orphanet:377788 disease +MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0000001 Orphanet:84132 Orphanet:377788 disease +MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0016187 Orphanet:84132 Orphanet:209041 qualitative or quantitative defects of desmin +MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0016197 Orphanet:84132 Orphanet:209193 qualitative or quantitative defects of selenoprotein N1 +MONDO:0019399 Isaac syndrome MONDO:0000001 Orphanet:84142 Orphanet:377788 disease +MONDO:0019402 beta thalassemia MONDO:0000001 Orphanet:848 Orphanet:377788 disease +MONDO:0019405 facial onset sensory and motor neuronopathy MONDO:0000001 Orphanet:85162 Orphanet:377788 disease +MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0000001 Orphanet:85172 Orphanet:377788 disease +MONDO:0019411 genochondromatosis type 1 MONDO:0000001 Orphanet:85197 Orphanet:377788 disease +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia MONDO:0000001 Orphanet:853 Orphanet:377788 disease +MONDO:0019421 X-linked intellectual disability, Seemanova type MONDO:0000001 Orphanet:85323 Orphanet:377788 disease +MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO:0000001 Orphanet:85327 Orphanet:377788 disease +MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type MONDO:0000001 Orphanet:85334 Orphanet:377788 disease +MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type MONDO:0000001 Orphanet:85336 Orphanet:377788 disease +MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome MONDO:0000001 Orphanet:85338 Orphanet:377788 disease +MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0000001 Orphanet:85408 Orphanet:377788 disease +MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0000001 Orphanet:85410 Orphanet:377788 disease +MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:0000001 Orphanet:85414 Orphanet:377788 disease +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis MONDO:0000001 Orphanet:85435 Orphanet:377788 disease +MONDO:0019436 psoriasis-related juvenile idiopathic arthritis MONDO:0000001 Orphanet:85436 Orphanet:377788 disease +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0000001 Orphanet:85438 Orphanet:377788 disease +MONDO:0019438 AL amyloidosis MONDO:0000001 Orphanet:85443 Orphanet:377788 disease +MONDO:0019439 AA amyloidosis MONDO:0000001 Orphanet:85445 Orphanet:377788 disease +MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0000001 Orphanet:85446 Orphanet:377788 disease +MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 Orphanet:85451 Orphanet:271861 familial amyloid neuropathy +MONDO:0019444 trichinellosis MONDO:0000001 Orphanet:863 Orphanet:377788 disease +MONDO:0019445 trichofolliculoma MONDO:0000001 Orphanet:864 Orphanet:377788 disease +MONDO:0019447 atypical lichen myxedematosus MONDO:0000001 Orphanet:86797 Orphanet:377788 disease +MONDO:0019448 benign adult familial myoclonic epilepsy MONDO:0000001 Orphanet:86814 Orphanet:377788 disease +MONDO:0019451 chronic neutrophilic leukemia MONDO:0000001 Orphanet:86829 Orphanet:377788 disease +MONDO:0019452 myeloproliferative neoplasm, unclassifiable MONDO:0000001 Orphanet:86830 Orphanet:377788 disease +MONDO:0019454 myelodysplastic syndrome with excess blasts MONDO:0000001 Orphanet:86839 Orphanet:377788 disease +MONDO:0019455 acute panmyelosis with myelofibrosis MONDO:0000001 Orphanet:86843 Orphanet:377788 disease +MONDO:0019456 acute myeloid leukemia with multilineage dysplasia MONDO:0000001 Orphanet:86845 Orphanet:377788 disease +MONDO:0019458 acute basophilic leukemia MONDO:0000001 Orphanet:86849 Orphanet:377788 disease +MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0000001 Orphanet:86852 Orphanet:377788 disease +MONDO:0019462 splenic marginal zone lymphoma MONDO:0000001 Orphanet:86854 Orphanet:377788 disease +MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease MONDO:0000001 Orphanet:86861 Orphanet:377788 disease +MONDO:0019464 heavy chain disease MONDO:0000001 Orphanet:86864 Orphanet:377788 disease +MONDO:0019465 nodal marginal zone B-cell lymphoma MONDO:0000001 Orphanet:86867 Orphanet:377788 disease +MONDO:0019466 lymphomatoid granulomatosis MONDO:0000001 Orphanet:86869 Orphanet:377788 disease +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0000001 Orphanet:86870 Orphanet:377788 disease +MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0000001 Orphanet:86871 Orphanet:377788 disease +MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0015760 Orphanet:86871 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0000001 Orphanet:86872 Orphanet:377788 disease +MONDO:0019470 aggressive NK-cell leukemia MONDO:0000001 Orphanet:86873 Orphanet:377788 disease +MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0000001 Orphanet:86875 Orphanet:377788 disease +MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0000001 Orphanet:86879 Orphanet:377788 disease +MONDO:0019473 enteropathy-associated T-cell lymphoma MONDO:0000001 Orphanet:86880 Orphanet:377788 disease +MONDO:0019474 hepatosplenic T-cell lymphoma MONDO:0000001 Orphanet:86882 Orphanet:377788 disease +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma MONDO:0000001 Orphanet:86884 Orphanet:377788 disease +MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified MONDO:0000001 Orphanet:86885 Orphanet:377788 disease +MONDO:0019479 histiocytic sarcoma MONDO:0000001 Orphanet:86896 Orphanet:377788 disease +MONDO:0019480 Langerhans cell sarcoma MONDO:0000001 Orphanet:86897 Orphanet:377788 disease +MONDO:0019480 Langerhans cell sarcoma MONDO:0020082 Orphanet:86897 Orphanet:98289 dendritic cell tumor +MONDO:0019483 methotrexate-associated lymphoproliferative disorders MONDO:0000001 Orphanet:86904 Orphanet:377788 disease +MONDO:0019484 hypothalamic hamartomas with gelastic seizures MONDO:0000001 Orphanet:86906 Orphanet:377788 disease +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome MONDO:0000001 Orphanet:86908 Orphanet:377788 disease +MONDO:0019487 epilepsy with myoclonic absences MONDO:0000001 Orphanet:86911 Orphanet:377788 disease +MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome MONDO:0000001 Orphanet:86918 Orphanet:377788 disease +MONDO:0019490 progressive familial heart block MONDO:0000001 Orphanet:871 Orphanet:377788 disease +MONDO:0019493 primary adult heart tumor MONDO:0000001 Orphanet:874 Orphanet:377788 disease +MONDO:0019494 primary pediatric heart tumor MONDO:0000001 Orphanet:875 Orphanet:377788 disease +MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0000001 Orphanet:87884 Orphanet:377788 disease +MONDO:0019498 tungiasis MONDO:0000001 Orphanet:879 Orphanet:377788 disease +MONDO:0019500 extragonadal teratoma MONDO:0000001 Orphanet:883 Orphanet:377788 disease +MONDO:0019501 Usher syndrome MONDO:0000001 Orphanet:886 Orphanet:377788 disease +MONDO:0019504 superior limbic keratoconjunctivitis MONDO:0000001 Orphanet:88633 Orphanet:377788 disease +MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome MONDO:0000001 Orphanet:88643 Orphanet:377788 disease +MONDO:0019507 amelogenesis imperfecta MONDO:0000001 Orphanet:88661 Orphanet:377788 disease +MONDO:0019509 cutaneous leukocytoclastic angiitis MONDO:0000001 Orphanet:889 Orphanet:377788 disease +MONDO:0019514 hepatic veno-occlusive disease MONDO:0000001 Orphanet:890 Orphanet:377788 disease +MONDO:0019516 exudative vitreoretinopathy MONDO:0000001 Orphanet:891 Orphanet:377788 disease +MONDO:0019518 Waardenburg-Shah syndrome MONDO:0000001 Orphanet:897 Orphanet:377788 disease +MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other MONDO:0000001 Orphanet:89842 Orphanet:377788 disease +MONDO:0019526 erythema elevatum diutinum MONDO:0000001 Orphanet:90000 Orphanet:377788 disease +MONDO:0019527 undifferentiated connective tissue syndrome MONDO:0000001 Orphanet:90002 Orphanet:377788 disease +MONDO:0019528 inflammatory pseudotumor of the liver MONDO:0000001 Orphanet:90003 Orphanet:377788 disease +MONDO:0019529 radiation myelitis MONDO:0000001 Orphanet:90021 Orphanet:377788 disease +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency MONDO:0000001 Orphanet:90030 Orphanet:377788 disease +MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:0000001 Orphanet:90033 Orphanet:377788 disease +MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:0000001 Orphanet:90035 Orphanet:377788 disease +MONDO:0019534 mixed-type autoimmune hemolytic anemia MONDO:0000001 Orphanet:90036 Orphanet:377788 disease +MONDO:0019535 drug-induced autoimmune hemolytic anemia MONDO:0000001 Orphanet:90037 Orphanet:377788 disease +MONDO:0019537 hemoglobin D disease MONDO:0000001 Orphanet:90039 Orphanet:377788 disease +MONDO:0019538 Gaisbock syndrome MONDO:0000001 Orphanet:90041 Orphanet:377788 disease +MONDO:0019544 cocaine intoxication MONDO:0000001 Orphanet:90068 Orphanet:377788 disease +MONDO:0019545 systemic monochloroacetate poisoning MONDO:0000001 Orphanet:90069 Orphanet:377788 disease +MONDO:0019547 Wells syndrome MONDO:0000001 Orphanet:901 Orphanet:377788 disease +MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency MONDO:0000001 Orphanet:90118 Orphanet:377788 disease +MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy MONDO:0000001 Orphanet:90119 Orphanet:377788 disease +MONDO:0019551 hereditary motor and sensory neuropathy type 6 MONDO:0000001 Orphanet:90120 Orphanet:377788 disease +MONDO:0019552 centrifugal lipodystrophy MONDO:0000001 Orphanet:90156 Orphanet:377788 disease +MONDO:0019553 drug-induced localized lipodystrophy MONDO:0000001 Orphanet:90157 Orphanet:377788 disease +MONDO:0019554 idiopathic localized lipodystrophy MONDO:0000001 Orphanet:90158 Orphanet:377788 disease +MONDO:0019555 panniculitis and localized lipodystrophy MONDO:0000001 Orphanet:90159 Orphanet:377788 disease +MONDO:0019556 pressure-induced localized lipoatrophy MONDO:0000001 Orphanet:90160 Orphanet:377788 disease +MONDO:0019557 chilblain lupus MONDO:0000001 Orphanet:90280 Orphanet:377788 disease +MONDO:0019558 discoid lupus erythematosus MONDO:0000001 Orphanet:90281 Orphanet:377788 disease +MONDO:0019559 hypertrophic or verrucous lupus erythematosus MONDO:0000001 Orphanet:90282 Orphanet:377788 disease +MONDO:0019560 lupus erythematosus tumidus MONDO:0000001 Orphanet:90283 Orphanet:377788 disease +MONDO:0019561 lupus erythematosus panniculitis MONDO:0000001 Orphanet:90285 Orphanet:377788 disease +MONDO:0019562 localized scleroderma MONDO:0000001 Orphanet:90289 Orphanet:377788 disease +MONDO:0019565 hereditary von Willebrand disease MONDO:0000001 Orphanet:903 Orphanet:377788 disease +MONDO:0019571 autosomal dominant cutis laxa MONDO:0000001 Orphanet:90348 Orphanet:377788 disease +MONDO:0019571 autosomal dominant cutis laxa MONDO:0016175 Orphanet:90348 Orphanet:209 cutis laxa +MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0000001 Orphanet:90349 Orphanet:377788 disease +MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0016175 Orphanet:90349 Orphanet:209 cutis laxa +MONDO:0019573 autosomal recessive cutis laxa type 2 MONDO:0016175 Orphanet:90350 Orphanet:209 cutis laxa +MONDO:0019574 secondary intestinal lymphangiectasia MONDO:0000001 Orphanet:90363 Orphanet:377788 disease +MONDO:0019575 hypotrichosis simplex of the scalp MONDO:0000001 Orphanet:90368 Orphanet:377788 disease +MONDO:0019578 nodular lichen myxedematosus MONDO:0000001 Orphanet:90393 Orphanet:377788 disease +MONDO:0019579 discrete papular lichen myxedematosus MONDO:0000001 Orphanet:90394 Orphanet:377788 disease +MONDO:0019580 papular mucinosis of infancy MONDO:0000001 Orphanet:90395 Orphanet:377788 disease +MONDO:0019581 acral persistent papular mucinosis MONDO:0000001 Orphanet:90396 Orphanet:377788 disease +MONDO:0019582 self-healing papular mucinosis MONDO:0000001 Orphanet:90397 Orphanet:377788 disease +MONDO:0019591 panhypopituitarism MONDO:0000001 Orphanet:90695 Orphanet:377788 disease +MONDO:0019600 xeroderma pigmentosum MONDO:0000001 Orphanet:910 Orphanet:377788 disease +MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome MONDO:0000001 Orphanet:91136 Orphanet:377788 disease +MONDO:0019606 simple cryoglobulinemia MONDO:0000001 Orphanet:91139 Orphanet:377788 disease +MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:0000001 Orphanet:91140 Orphanet:377788 disease +MONDO:0019609 Zellweger spectrum disorders MONDO:0000001 Orphanet:912 Orphanet:377788 disease +MONDO:0019610 Zollinger-Ellison syndrome MONDO:0000001 Orphanet:913 Orphanet:377788 disease +MONDO:0019611 TSH-secreting pituitary adenoma MONDO:0000001 Orphanet:91347 Orphanet:377788 disease +MONDO:0019611 TSH-secreting pituitary adenoma MONDO:0003429 Orphanet:91347 Orphanet:314753 functioning pituitary gland adenoma +MONDO:0019612 functioning gonadotropic adenoma MONDO:0000001 Orphanet:91348 Orphanet:377788 disease +MONDO:0019613 non-functioning pituitary adenoma MONDO:0000001 Orphanet:91349 Orphanet:377788 disease +MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts MONDO:0000001 Orphanet:91350 Orphanet:377788 disease +MONDO:0019615 pituitary dermoid and epidermoid cysts MONDO:0000001 Orphanet:91351 Orphanet:377788 disease +MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome MONDO:0000001 Orphanet:91354 Orphanet:377788 disease +MONDO:0019621 chronic pneumonitis of infancy MONDO:0000001 Orphanet:91359 Orphanet:377788 disease +MONDO:0019622 non-specific interstitial pneumonia MONDO:0000001 Orphanet:91364 Orphanet:377788 disease +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection MONDO:0000001 Orphanet:91387 Orphanet:377788 disease +MONDO:0019627 isolated congenital alacrima MONDO:0000001 Orphanet:91416 Orphanet:377788 disease +MONDO:0019631 persistent hyperplastic primary vitreous MONDO:0000001 Orphanet:91495 Orphanet:377788 disease +MONDO:0019632 Lyme disease MONDO:0000001 Orphanet:91546 Orphanet:377788 disease +MONDO:0019633 relapsing fever MONDO:0000001 Orphanet:91547 Orphanet:377788 disease +MONDO:0019634 familial nasal acilia MONDO:0000001 Orphanet:922 Orphanet:377788 disease +MONDO:0019635 idiopathic achalasia MONDO:0000001 Orphanet:930 Orphanet:377788 disease +MONDO:0019641 Pauci-immune glomerulonephritis MONDO:0000001 Orphanet:93126 Orphanet:377788 disease +MONDO:0019642 vitamin D-dependent rickets, type 2 MONDO:0000001 Orphanet:93160 Orphanet:377788 disease +MONDO:0019643 transient pseudohypoaldosteronism MONDO:0000001 Orphanet:93164 Orphanet:377788 disease +MONDO:0019648 achondrogenesis MONDO:0000001 Orphanet:932 Orphanet:377788 disease +MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:0000001 Orphanet:93282 Orphanet:377788 disease +MONDO:0019667 spondyloepiphyseal dysplasia tarda MONDO:0000001 Orphanet:93284 Orphanet:377788 disease +MONDO:0019668 adenoma of pancreas MONDO:0000001 Orphanet:93292 Orphanet:377788 disease +MONDO:0019680 genochondromatosis type 2 MONDO:0000001 Orphanet:93398 Orphanet:377788 disease +MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0000001 Orphanet:93552 Orphanet:377788 disease +MONDO:0019734 juvenile polymyositis MONDO:0000001 Orphanet:93568 Orphanet:377788 disease +MONDO:0019771 oromandibular dystonia MONDO:0000001 Orphanet:93958 Orphanet:377788 disease +MONDO:0019772 blepharospasm-oromandibular dystonia syndrome MONDO:0000001 Orphanet:93964 Orphanet:377788 disease +MONDO:0019788 non-secreting paraganglioma MONDO:0000001 Orphanet:94080 Orphanet:377788 disease +MONDO:0019789 cytophagic histiocytic panniculitis MONDO:0000001 Orphanet:94087 Orphanet:377788 disease +MONDO:0019790 neuroleptic malignant syndrome MONDO:0000001 Orphanet:94093 Orphanet:377788 disease +MONDO:0019791 recessive mitochondrial ataxia syndrome MONDO:0000001 Orphanet:94125 Orphanet:377788 disease +MONDO:0019799 hepatoerythropoietic porphyria MONDO:0000001 Orphanet:95159 Orphanet:377788 disease +MONDO:0019802 secondary short bowel syndrome MONDO:0000001 Orphanet:95427 Orphanet:377788 disease +MONDO:0019803 angioma serpiginosum MONDO:0000001 Orphanet:95429 Orphanet:377788 disease +MONDO:0019805 twin to twin transfusion syndrome MONDO:0000001 Orphanet:95431 Orphanet:377788 disease +MONDO:0019810 toxic epidermal necrolysis MONDO:0000001 Orphanet:95455 Orphanet:377788 disease +MONDO:0019838 adenohypophysitis MONDO:0000001 Orphanet:95512 Orphanet:377788 disease +MONDO:0019839 panhypophysitis MONDO:0000001 Orphanet:95513 Orphanet:377788 disease +MONDO:0019845 iatrogenic or traumatic pituitary deficiency MONDO:0000001 Orphanet:95619 Orphanet:377788 disease +MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies MONDO:0000001 Orphanet:95715 Orphanet:377788 disease +MONDO:0019858 idiopathic congenital hypothyroidism MONDO:0000001 Orphanet:95717 Orphanet:377788 disease +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion MONDO:0012455 Orphanet:96147 Orphanet:261494 Kleefstra syndrome +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance MONDO:0019155 Orphanet:96265 Orphanet:755 Leydig cell hypoplasia +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance MONDO:0019155 Orphanet:96266 Orphanet:755 Leydig cell hypoplasia +MONDO:0019933 acromegaly MONDO:0000001 Orphanet:963 Orphanet:377788 disease +MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 MONDO:0000001 Orphanet:970 Orphanet:377788 disease +MONDO:0019943 hereditary continuous muscle fiber activity MONDO:0000001 Orphanet:972 Orphanet:377788 disease +MONDO:0019945 solar urticaria MONDO:0000001 Orphanet:97230 Orphanet:377788 disease +MONDO:0019947 rippling muscle disease 2 MONDO:0000001 Orphanet:97238 Orphanet:377788 disease +MONDO:0019948 reducing body myopathy MONDO:0000001 Orphanet:97239 Orphanet:377788 disease +MONDO:0019949 zebra body myopathy MONDO:0000001 Orphanet:97240 Orphanet:377788 disease +MONDO:0019949 zebra body myopathy MONDO:0019952 Orphanet:97240 Orphanet:97245 congenital myopathy +MONDO:0019951 rigid spine syndrome MONDO:0000001 Orphanet:97244 Orphanet:377788 disease +MONDO:0019955 GRFoma MONDO:0000001 Orphanet:97261 Orphanet:377788 disease +MONDO:0019957 PPoma MONDO:0000001 Orphanet:97278 Orphanet:377788 disease +MONDO:0019959 glucagonoma MONDO:0000001 Orphanet:97280 Orphanet:377788 disease +MONDO:0019960 VIPoma MONDO:0000001 Orphanet:97282 Orphanet:377788 disease +MONDO:0019962 thyroid lymphoma MONDO:0000001 Orphanet:97285 Orphanet:377788 disease +MONDO:0019962 thyroid lymphoma MONDO:0015074 Orphanet:97285 Orphanet:100087 thyroid tumor +MONDO:0019963 bronchial endocrine tumor MONDO:0000001 Orphanet:97287 Orphanet:377788 disease +MONDO:0019964 thymic neuroendocrine tumor MONDO:0000001 Orphanet:97289 Orphanet:377788 disease +MONDO:0019967 Kienbock disease MONDO:0000001 Orphanet:97332 Orphanet:377788 disease +MONDO:0019969 panner disease MONDO:0000001 Orphanet:97336 Orphanet:377788 disease +MONDO:0019970 Sinding-Larsen-Johansson disease MONDO:0000001 Orphanet:97337 Orphanet:377788 disease +MONDO:0019971 melanoma of soft tissue MONDO:0000001 Orphanet:97338 Orphanet:377788 disease +MONDO:0019973 persistent placoid maculopathy MONDO:0000001 Orphanet:97341 Orphanet:377788 disease +MONDO:0019975 pellagra MONDO:0000001 Orphanet:97352 Orphanet:377788 disease +MONDO:0019976 dementia pugilistica MONDO:0000001 Orphanet:97353 Orphanet:377788 disease +MONDO:0019977 parkinsonism with dementia of Guadeloupe MONDO:0000001 Orphanet:97355 Orphanet:377788 disease +MONDO:0019990 non-amyloid fibrillary glomerulopathy MONDO:0000001 Orphanet:97566 Orphanet:377788 disease +MONDO:0019991 immunotactoid glomerulopathy MONDO:0000001 Orphanet:97567 Orphanet:377788 disease +MONDO:0019993 congenital renal artery stenosis MONDO:0000001 Orphanet:97598 Orphanet:377788 disease +MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0000001 Orphanet:98784 Orphanet:377788 disease +MONDO:0020310 familial focal epilepsy with variable foci MONDO:0000001 Orphanet:98820 Orphanet:377788 disease +MONDO:0020311 chronic myelomonocytic leukemia MONDO:0000001 Orphanet:98823 Orphanet:377788 disease +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) MONDO:0000001 Orphanet:98829 Orphanet:377788 disease +MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities MONDO:0000001 Orphanet:98831 Orphanet:377788 disease +MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0000001 Orphanet:98834 Orphanet:377788 disease +MONDO:0020321 acute undifferentiated leukemia MONDO:0000001 Orphanet:98835 Orphanet:377788 disease +MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0000001 Orphanet:98838 Orphanet:377788 disease +MONDO:0020324 intravascular large B-cell lymphoma MONDO:0000001 Orphanet:98839 Orphanet:377788 disease +MONDO:0020325 anaplastic large cell lymphoma MONDO:0000001 Orphanet:98841 Orphanet:377788 disease +MONDO:0020325 anaplastic large cell lymphoma MONDO:0015760 Orphanet:98841 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0020326 lymphomatoid papulosis MONDO:0000001 Orphanet:98842 Orphanet:377788 disease +MONDO:0020331 indolent systemic mastocytosis MONDO:0000001 Orphanet:98848 Orphanet:377788 disease +MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease MONDO:0000001 Orphanet:98849 Orphanet:377788 disease +MONDO:0020333 aggressive systemic mastocytosis MONDO:0000001 Orphanet:98850 Orphanet:377788 disease +MONDO:0020334 mast cell leukemia MONDO:0000001 Orphanet:98851 Orphanet:377788 disease +MONDO:0020337 congenital dyserythropoietic anemia type 1 MONDO:0000001 Orphanet:98869 Orphanet:377788 disease +MONDO:0020338 adult pure red cell aplasia MONDO:0000001 Orphanet:98872 Orphanet:377788 disease +MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy MONDO:0000001 Orphanet:98916 Orphanet:377788 disease +MONDO:0020348 acute motor and sensory axonal neuropathy MONDO:0000001 Orphanet:98917 Orphanet:377788 disease +MONDO:0020349 acute motor axonal neuropathy MONDO:0000001 Orphanet:98918 Orphanet:377788 disease +MONDO:0020363 honey-droplet corneal dystrophy MONDO:0000001 Orphanet:98958 Orphanet:377788 disease +MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0000001 Orphanet:98973 Orphanet:377788 disease +MONDO:0020367 juvenile open angle glaucoma MONDO:0000001 Orphanet:98977 Orphanet:377788 disease +MONDO:0020378 early-onset posterior polar cataract MONDO:0020377 Orphanet:98993 Orphanet:98992 early-onset partial cataract +MONDO:0020380 autosomal dominant cerebellar ataxia MONDO:0100309 Orphanet:99 Orphanet:183518 hereditary ataxia +MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus MONDO:0000001 Orphanet:99003 Orphanet:377788 disease +MONDO:0020383 fundus pulverulentus MONDO:0000001 Orphanet:99004 Orphanet:377788 disease +MONDO:0020457 6-phosphogluconate dehydrogenase deficiency MONDO:0000001 Orphanet:99135 Orphanet:377788 disease +MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0000001 Orphanet:99138 Orphanet:377788 disease +MONDO:0020459 unstable hemoglobin disease MONDO:0000001 Orphanet:99139 Orphanet:377788 disease +MONDO:0020460 acquired von willebrand syndrome MONDO:0000001 Orphanet:99147 Orphanet:377788 disease +MONDO:0020467 mosaic monosomy X MONDO:0019499 Orphanet:99228 Orphanet:881 Turner syndrome +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis MONDO:0000001 Orphanet:99701 Orphanet:377788 disease +MONDO:0020478 Leber plus disease MONDO:0000001 Orphanet:99718 Orphanet:377788 disease +MONDO:0020479 pituitary gigantism MONDO:0000001 Orphanet:99725 Orphanet:377788 disease +MONDO:0020481 myotonia fluctuans MONDO:0000001 Orphanet:99734 Orphanet:377788 disease +MONDO:0020482 myotonia permanens MONDO:0000001 Orphanet:99735 Orphanet:377788 disease +MONDO:0020483 acetazolamide-responsive myotonia MONDO:0000001 Orphanet:99736 Orphanet:377788 disease +MONDO:0020485 King-Denborough syndrome MONDO:0019952 Orphanet:99741 Orphanet:97245 congenital myopathy +MONDO:0020487 Pontiac fever MONDO:0000001 Orphanet:99748 Orphanet:377788 disease +MONDO:0020495 PEHO-like syndrome MONDO:0000001 Orphanet:99807 Orphanet:377788 disease +MONDO:0020499 Nipah virus disease MONDO:0000001 Orphanet:99825 Orphanet:377788 disease +MONDO:0020500 Marburg hemorrhagic fever MONDO:0000001 Orphanet:99826 Orphanet:377788 disease +MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0000001 Orphanet:99827 Orphanet:377788 disease +MONDO:0020502 yellow fever MONDO:0000001 Orphanet:99829 Orphanet:377788 disease +MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0000001 Orphanet:99845 Orphanet:377788 disease +MONDO:0020505 ravine syndrome MONDO:0000001 Orphanet:99852 Orphanet:377788 disease +MONDO:0020509 secondary syringomyelia MONDO:0000001 Orphanet:99857 Orphanet:377788 disease +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0000001 Orphanet:99860 Orphanet:377788 disease +MONDO:0020512 precursor T-cell acute lymphoblastic leukemia MONDO:0000001 Orphanet:99861 Orphanet:377788 disease +MONDO:0020513 spermatocytic seminoma MONDO:0000001 Orphanet:99865 Orphanet:377788 disease +MONDO:0020513 spermatocytic seminoma MONDO:0010108 Orphanet:99865 Orphanet:363504 testicular germ cell tumor +MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0000001 Orphanet:99869 Orphanet:377788 disease +MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0018079 Orphanet:99869 Orphanet:3398 thymic epithelial neoplasm +MONDO:0020527 ectopic Cushing syndrome MONDO:0000001 Orphanet:99889 Orphanet:377788 disease +MONDO:0020535 house allergic alveolitis MONDO:0000001 Orphanet:99907 Orphanet:377788 disease +MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary MONDO:0000001 Orphanet:99912 Orphanet:377788 disease +MONDO:0020540 ovarian gynandroblastoma MONDO:0000001 Orphanet:99914 Orphanet:377788 disease +MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0000001 Orphanet:99915 Orphanet:377788 disease +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary MONDO:0000001 Orphanet:99916 Orphanet:377788 disease +MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified MONDO:0000001 Orphanet:99917 Orphanet:377788 disease +MONDO:0020549 invasive hydatidiform mole MONDO:0000001 Orphanet:99925 Orphanet:377788 disease +MONDO:0020550 gestational choriocarcinoma MONDO:0000001 Orphanet:99926 Orphanet:377788 disease +MONDO:0020550 gestational choriocarcinoma MONDO:0020539 Orphanet:99926 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0020552 placental site trophoblastic tumor MONDO:0000001 Orphanet:99928 Orphanet:377788 disease +MONDO:0020553 secondary pulmonary hemosiderosis MONDO:0000001 Orphanet:99930 Orphanet:377788 disease +MONDO:0020554 Heiner syndrome MONDO:0000001 Orphanet:99932 Orphanet:377788 disease +MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K MONDO:0000001 Orphanet:99944 Orphanet:377788 disease +MONDO:0020559 O'Sullivan-McLeod syndrome MONDO:0000001 Orphanet:99965 Orphanet:377788 disease +MONDO:0020559 O'Sullivan-McLeod syndrome MONDO:0020129 Orphanet:99965 Orphanet:98506 acquired motor neuron disease +MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0000001 Orphanet:99966 Orphanet:377788 disease +MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0018078 Orphanet:99966 Orphanet:3394 soft tissue sarcoma +MONDO:0020567 apnea of prematurity MONDO:0000001 Orphanet:99981 Orphanet:377788 disease +MONDO:0020569 intermediate DEND syndrome MONDO:0000001 Orphanet:99989 Orphanet:377788 disease +MONDO:0020569 intermediate DEND syndrome MONDO:0016391 Orphanet:99989 Orphanet:224 neonatal diabetes mellitus +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0000001 Orphanet:35173 Orphanet:377788 disease +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0015775 Orphanet:35173 Orphanet:176 non-rhizomelic chondrodysplasia punctata +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0019240 Orphanet:35173 Orphanet:79195 sterol biosynthesis disorder +MONDO:0020654 renal pelvis/ureter urothelial carcinoma MONDO:0000001 Orphanet:598216 Orphanet:377788 disease +MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0000001 Orphanet:264580 Orphanet:377788 disease +MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:0000001 Orphanet:312 Orphanet:377788 disease +MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:0017266 Orphanet:312 Orphanet:281103 keratinopathic ichthyosis +MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0000001 Orphanet:75563 Orphanet:377788 disease +MONDO:0020743 mixed phenotype acute leukemia MONDO:0000001 Orphanet:530995 Orphanet:377788 disease +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0000001 Orphanet:555407 Orphanet:377788 disease +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0024237 Orphanet:555407 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0020783 capillary malformation-arteriovenous malformation 1 MONDO:0000001 Orphanet:90307 Orphanet:377788 disease +MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0000001 Orphanet:34516 Orphanet:377788 disease +MONDO:0021019 X-linked recessive ocular albinism MONDO:0000001 Orphanet:54 Orphanet:377788 disease +MONDO:0021022 hereditary hyperekplexia MONDO:0000001 Orphanet:3197 Orphanet:377788 disease +MONDO:0021023 complete androgen insensitivity syndrome MONDO:0000001 Orphanet:99429 Orphanet:377788 disease +MONDO:0021054 bone sarcoma MONDO:0019060 Orphanet:223727 Orphanet:68411 bone neoplasm +MONDO:0021055 classic familial adenomatous polyposis MONDO:0000001 Orphanet:733 Orphanet:377788 disease +MONDO:0021055 classic familial adenomatous polyposis MONDO:0015185 Orphanet:733 Orphanet:104010 intestinal polyposis syndrome +MONDO:0021081 anti-NMDA receptor encephalitis MONDO:0000001 Orphanet:217253 Orphanet:377788 disease +MONDO:0021102 prostate phyllodes tumor MONDO:0000001 Orphanet:498228 Orphanet:377788 disease +MONDO:0021133 acquired factor XIII deficiency MONDO:0000001 Orphanet:599513 Orphanet:377788 disease +MONDO:0021134 acquired factor X deficiency MONDO:0000001 Orphanet:599501 Orphanet:377788 disease +MONDO:0021169 epithelioid hemangioma MONDO:0000001 Orphanet:675396 Orphanet:377788 disease +MONDO:0021427 squamous cell carcinoma of lip MONDO:0000001 Orphanet:502366 Orphanet:377788 disease +MONDO:0021427 squamous cell carcinoma of lip MONDO:0044710 Orphanet:502366 Orphanet:502369 lip and oral cavity squamous cell carcinoma +MONDO:0021588 eyelid sebaceous gland carcinoma MONDO:0000001 Orphanet:658590 Orphanet:377788 disease +MONDO:0021660 deep seated dermatophytosis MONDO:0000001 Orphanet:397587 Orphanet:377788 disease +MONDO:0022513 atrophoderma of Pierini and Pasini MONDO:0000001 Orphanet:658810 Orphanet:377788 disease +MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0000001 Orphanet:617916 Orphanet:377788 disease +MONDO:0023188 Freiberg disease MONDO:0000001 Orphanet:564003 Orphanet:377788 disease +MONDO:0023275 Graham-Boyle-Troxell syndrome MONDO:0000001 Orphanet:2111 Orphanet:377788 disease +MONDO:0024326 pleural adenomatoid tumor MONDO:0000001 Orphanet:675814 Orphanet:377788 disease +MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0000001 Orphanet:35069 Orphanet:377788 disease +MONDO:0024472 boutonneuse fever MONDO:0000001 Orphanet:101334 Orphanet:377788 disease +MONDO:0024472 boutonneuse fever MONDO:0000001 Orphanet:83313 Orphanet:377788 disease +MONDO:0024472 boutonneuse fever MONDO:0001195 Orphanet:101334 Orphanet:102022 spotted fever +MONDO:0024472 boutonneuse fever MONDO:0001195 Orphanet:83313 Orphanet:102022 spotted fever +MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0000001 Orphanet:506090 Orphanet:377788 disease +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0000001 Orphanet:538931 Orphanet:377788 disease +MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0000001 Orphanet:251347 Orphanet:377788 disease +MONDO:0024559 aortic aneurysm, familial thoracic 1 MONDO:0000001 Orphanet:229 Orphanet:377788 disease +MONDO:0024568 infantile liver failure syndrome 1 MONDO:0000001 Orphanet:370088 Orphanet:377788 disease +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0000001 Orphanet:662184 Orphanet:377788 disease +MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0000001 Orphanet:66627 Orphanet:377788 disease +MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0000001 Orphanet:676125 Orphanet:377788 disease +MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked MONDO:0000001 Orphanet:675628 Orphanet:377788 disease +MONDO:0024781 immunodeficiency 102 MONDO:0000001 Orphanet:653751 Orphanet:377788 disease +MONDO:0025193 oculopharyngodistal myopathy MONDO:0000001 Orphanet:98897 Orphanet:377788 disease +MONDO:0025667 limbal stem cell deficiency MONDO:0000001 Orphanet:171673 Orphanet:377788 disease +MONDO:0026777 VEXAS syndrome MONDO:0000001 Orphanet:596753 Orphanet:377788 disease +MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 MONDO:0000001 Orphanet:565909 Orphanet:377788 disease +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0000001 Orphanet:542301 Orphanet:377788 disease +MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0000001 Orphanet:565837 Orphanet:377788 disease +MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000001 Orphanet:570491 Orphanet:377788 disease +MONDO:0030048 harderoporphyria MONDO:0000001 Orphanet:659672 Orphanet:377788 disease +MONDO:0030073 Mitchell syndrome MONDO:0000001 Orphanet:631248 Orphanet:377788 disease +MONDO:0030105 galactosemia 4 MONDO:0000001 Orphanet:570422 Orphanet:377788 disease +MONDO:0030482 spastic paraplegia 84, autosomal recessive MONDO:0000001 Orphanet:631079 Orphanet:377788 disease +MONDO:0030512 spastic paraplegia 85, autosomal recessive MONDO:0000001 Orphanet:631082 Orphanet:377788 disease +MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0000001 Orphanet:662216 Orphanet:377788 disease +MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0000001 Orphanet:631085 Orphanet:377788 disease +MONDO:0030805 spinocerebellar ataxia 49 MONDO:0000001 Orphanet:631106 Orphanet:377788 disease +MONDO:0030894 AMED syndrome, digenic MONDO:0000001 Orphanet:611216 Orphanet:377788 disease +MONDO:0030898 immunodeficiency 76 MONDO:0000001 Orphanet:647804 Orphanet:377788 disease +MONDO:0030899 oculocutaneous albinism type 8 MONDO:0000001 Orphanet:597733 Orphanet:377788 disease +MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0000001 Orphanet:610573 Orphanet:377788 disease +MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0000001 Orphanet:631088 Orphanet:377788 disease +MONDO:0031213 restrictive dermopathy MONDO:0000001 Orphanet:1662 Orphanet:377788 disease +MONDO:0031219 mismatch repair cancer syndrome MONDO:0000001 Orphanet:252202 Orphanet:377788 disease +MONDO:0031421 Olmsted syndrome MONDO:0000001 Orphanet:659 Orphanet:377788 disease +MONDO:0031446 hypercholanemia, familial 1 MONDO:0000001 Orphanet:238475 Orphanet:377788 disease +MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0000001 Orphanet:306558 Orphanet:377788 disease +MONDO:0032526 spinocerebellar ataxia 48 MONDO:0000001 Orphanet:631103 Orphanet:377788 disease +MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0000001 Orphanet:565788 Orphanet:377788 disease +MONDO:0032653 cardiac-urogenital syndrome MONDO:0000001 Orphanet:647811 Orphanet:377788 disease +MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0000001 Orphanet:557064 Orphanet:377788 disease +MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0017352 Orphanet:557064 Orphanet:289841 disorder of glutamine metabolism +MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0000001 Orphanet:636941 Orphanet:377788 disease +MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0000001 Orphanet:597874 Orphanet:377788 disease +MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0000001 Orphanet:615964 Orphanet:377788 disease +MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0000001 Orphanet:642085 Orphanet:377788 disease +MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0000001 Orphanet:565624 Orphanet:377788 disease +MONDO:0032737 spastic paraplegia 80, autosomal dominant MONDO:0000001 Orphanet:631068 Orphanet:377788 disease +MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0000001 Orphanet:477749 Orphanet:377788 disease +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0000001 Orphanet:99832 Orphanet:377788 disease +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0000001 Orphanet:659609 Orphanet:377788 disease +MONDO:0032830 snijders blok-fisher syndrome MONDO:0000001 Orphanet:656135 Orphanet:377788 disease +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0000001 Orphanet:664923 Orphanet:377788 disease +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant MONDO:0000001 Orphanet:675767 Orphanet:377788 disease +MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0000001 Orphanet:631073 Orphanet:377788 disease +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0000001 Orphanet:676039 Orphanet:377788 disease +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0000001 Orphanet:656279 Orphanet:377788 disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0000001 Orphanet:527497 Orphanet:377788 disease +MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0000001 Orphanet:476394 Orphanet:377788 disease +MONDO:0033203 nephrotic syndrome 14 MONDO:0000001 Orphanet:506334 Orphanet:377788 disease +MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0000001 Orphanet:569274 Orphanet:377788 disease +MONDO:0033479 spinocerebellar ataxia 44 MONDO:0000001 Orphanet:631095 Orphanet:377788 disease +MONDO:0033480 spinocerebellar ataxia 45 MONDO:0000001 Orphanet:589527 Orphanet:377788 disease +MONDO:0033481 spinocerebellar ataxia 46 MONDO:0000001 Orphanet:589522 Orphanet:377788 disease +MONDO:0033482 spinocerebellar ataxia 47 MONDO:0000001 Orphanet:642747 Orphanet:377788 disease +MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:0000001 Orphanet:641353 Orphanet:377788 disease +MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0000001 Orphanet:631076 Orphanet:377788 disease +MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0000001 Orphanet:544488 Orphanet:377788 disease +MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0000001 Orphanet:50817 Orphanet:377788 disease +MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0000001 Orphanet:508533 Orphanet:377788 disease +MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0000001 Orphanet:508542 Orphanet:377788 disease +MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation MONDO:0000001 Orphanet:512260 Orphanet:377788 disease +MONDO:0033809 isolated blepharochalasis MONDO:0000001 Orphanet:519390 Orphanet:377788 disease +MONDO:0033810 isolated iridoschisis MONDO:0000001 Orphanet:519392 Orphanet:377788 disease +MONDO:0033816 thygeson superficial punctate keratopathy MONDO:0000001 Orphanet:519406 Orphanet:377788 disease +MONDO:0033818 Terrien marginal degeneration MONDO:0000001 Orphanet:519410 Orphanet:377788 disease +MONDO:0033821 fungal keratitis MONDO:0000001 Orphanet:519930 Orphanet:377788 disease +MONDO:0033838 radiation-induced plexopathy MONDO:0000001 Orphanet:521123 Orphanet:377788 disease +MONDO:0033839 osteoradionecrosis of the mandible MONDO:0000001 Orphanet:521127 Orphanet:377788 disease +MONDO:0033839 osteoradionecrosis of the mandible MONDO:0005380 Orphanet:521127 Orphanet:399158 osteonecrosis +MONDO:0033839 osteoradionecrosis of the mandible MONDO:0043459 Orphanet:521127 Orphanet:521132 radiation-induced disorder +MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0000001 Orphanet:521411 Orphanet:377788 disease +MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0000001 Orphanet:521432 Orphanet:377788 disease +MONDO:0033856 LAMA5-related multisystemic syndrome MONDO:0000001 Orphanet:521450 Orphanet:377788 disease +MONDO:0033862 primary autoimmune enteropathy MONDO:0000001 Orphanet:522037 Orphanet:377788 disease +MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0000001 Orphanet:522077 Orphanet:377788 disease +MONDO:0033925 pediatric-onset Graves disease MONDO:0000001 Orphanet:525731 Orphanet:377788 disease +MONDO:0033926 prepubertal anorexia nervosa MONDO:0000001 Orphanet:525738 Orphanet:377788 disease +MONDO:0033946 hereditary angioedema with C1Inh deficiency MONDO:0000001 Orphanet:528623 Orphanet:377788 disease +MONDO:0033948 acquired angioedema with C1Inh deficiency MONDO:0000001 Orphanet:528663 Orphanet:377788 disease +MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0000001 Orphanet:529468 Orphanet:377788 disease +MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0000001 Orphanet:529977 Orphanet:377788 disease +MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome MONDO:0000001 Orphanet:529980 Orphanet:377788 disease +MONDO:0033980 RELA fusion-positive ependymoma MONDO:0000001 Orphanet:530792 Orphanet:377788 disease +MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome MONDO:0000001 Orphanet:536471 Orphanet:377788 disease +MONDO:0034022 Bethlem myopathy 2 MONDO:0000001 Orphanet:536516 Orphanet:377788 disease +MONDO:0034022 Bethlem myopathy 2 MONDO:0019950 Orphanet:536516 Orphanet:97242 congenital muscular dystrophy +MONDO:0034041 congenital axonal neuropathy with encephalopathy MONDO:0000001 Orphanet:538101 Orphanet:377788 disease +MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0000001 Orphanet:538958 Orphanet:377788 disease +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0000001 Orphanet:543470 Orphanet:377788 disease +MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy MONDO:0000001 Orphanet:544254 Orphanet:377788 disease +MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0000001 Orphanet:544482 Orphanet:377788 disease +MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0000001 Orphanet:544503 Orphanet:377788 disease +MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0000001 Orphanet:544602 Orphanet:377788 disease +MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0000001 Orphanet:544628 Orphanet:377788 disease +MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0000001 Orphanet:555402 Orphanet:377788 disease +MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0024237 Orphanet:555402 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0034127 IgA pemphigus MONDO:0000001 Orphanet:555905 Orphanet:377788 disease +MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0000001 Orphanet:556955 Orphanet:377788 disease +MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0000001 Orphanet:556985 Orphanet:377788 disease +MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0024237 Orphanet:556985 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0034145 oculocerebrodental syndrome MONDO:0000001 Orphanet:557003 Orphanet:377788 disease +MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0000001 Orphanet:557056 Orphanet:377788 disease +MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0017352 Orphanet:557056 Orphanet:289841 disorder of glutamine metabolism +MONDO:0034150 idiopathic gastroparesis MONDO:0000001 Orphanet:558411 Orphanet:377788 disease +MONDO:0034186 autosomal recessive extra-oral halitosis MONDO:0000001 Orphanet:562538 Orphanet:377788 disease +MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO:0000001 Orphanet:562639 Orphanet:377788 disease +MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0000001 Orphanet:563708 Orphanet:377788 disease +MONDO:0034212 methotrexate toxicity MONDO:0000001 Orphanet:565782 Orphanet:377788 disease +MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha MONDO:0000001 Orphanet:566231 Orphanet:377788 disease +MONDO:0034846 primary desmosis coli MONDO:0000001 Orphanet:565641 Orphanet:377788 disease +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:576379 Orphanet:377788 disease +MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas MONDO:0000001 Orphanet:580572 Orphanet:377788 disease +MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome MONDO:0000001 Orphanet:508512 Orphanet:377788 disease +MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form MONDO:0000001 Orphanet:583595 Orphanet:377788 disease +MONDO:0035008 isolated splenic vein thrombosis MONDO:0000001 Orphanet:583856 Orphanet:377788 disease +MONDO:0035009 isolated mesenteric vein thrombosis MONDO:0000001 Orphanet:583861 Orphanet:377788 disease +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0000001 Orphanet:585867 Orphanet:377788 disease +MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome MONDO:0000001 Orphanet:589515 Orphanet:377788 disease +MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement MONDO:0000001 Orphanet:589542 Orphanet:377788 disease +MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder MONDO:0000001 Orphanet:589547 Orphanet:377788 disease +MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0000001 Orphanet:589608 Orphanet:377788 disease +MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0000001 Orphanet:589905 Orphanet:377788 disease +MONDO:0035136 isolated melanotic schwannoma MONDO:0000001 Orphanet:590539 Orphanet:377788 disease +MONDO:0035136 isolated melanotic schwannoma MONDO:0016752 Orphanet:590539 Orphanet:252131 benign peripheral nerve sheath tumor +MONDO:0035136 isolated melanotic schwannoma MONDO:0018078 Orphanet:590539 Orphanet:3394 soft tissue sarcoma +MONDO:0035149 secondary erythromelalgia MONDO:0000001 Orphanet:529864 Orphanet:377788 disease +MONDO:0035349 localized dystrophic epidermolysis bullosa MONDO:0000001 Orphanet:595356 Orphanet:377788 disease +MONDO:0035357 portosinusoidal vascular disease MONDO:0000001 Orphanet:596937 Orphanet:377788 disease +MONDO:0035362 TRIM22-related inflammatory bowel disease MONDO:0000001 Orphanet:597201 Orphanet:377788 disease +MONDO:0035370 ALPI-related inflammatory bowel disease MONDO:0000001 Orphanet:597887 Orphanet:377788 disease +MONDO:0035375 multisystem inflammatory syndrome in children and adults MONDO:0000001 Orphanet:598363 Orphanet:377788 disease +MONDO:0035383 FOXG1 syndrome MONDO:0000001 Orphanet:561854 Orphanet:377788 disease +MONDO:0035423 triglyceride deposit cardiomyovasculopathy MONDO:0000001 Orphanet:565612 Orphanet:377788 disease +MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0000001 Orphanet:565899 Orphanet:377788 disease +MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome MONDO:0000001 Orphanet:566067 Orphanet:377788 disease +MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia MONDO:0000001 Orphanet:566192 Orphanet:377788 disease +MONDO:0035447 liver adenomatosis MONDO:0000001 Orphanet:566841 Orphanet:377788 disease +MONDO:0035452 mueller-weiss syndrome MONDO:0000001 Orphanet:566943 Orphanet:377788 disease +MONDO:0035472 GJC2-related late-onset primary lymphedema MONDO:0000001 Orphanet:568051 Orphanet:377788 disease +MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0000001 Orphanet:568056 Orphanet:377788 disease +MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis MONDO:0000001 Orphanet:568062 Orphanet:377788 disease +MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis MONDO:0000001 Orphanet:568065 Orphanet:377788 disease +MONDO:0035499 CELSR1-related late-onset primary lymphedema MONDO:0000001 Orphanet:569816 Orphanet:377788 disease +MONDO:0035500 congenital primary lymphedema of Gordon MONDO:0000001 Orphanet:569821 Orphanet:377788 disease +MONDO:0035511 ricin poisoning MONDO:0000001 Orphanet:570470 Orphanet:377788 disease +MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0019852 Orphanet:572354 Orphanet:95710 inherited primary ovarian failure +MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia MONDO:0000001 Orphanet:572428 Orphanet:377788 disease +MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0000001 Orphanet:575553 Orphanet:377788 disease +MONDO:0035584 punctate inner choroidopathy MONDO:0000001 Orphanet:580951 Orphanet:377788 disease +MONDO:0035586 Cramp-fasciculation syndrome MONDO:0000001 Orphanet:581271 Orphanet:377788 disease +MONDO:0035592 congenital infiltrating lipomatosis of the face MONDO:0000001 Orphanet:583097 Orphanet:377788 disease +MONDO:0035614 sporadic fatal insomnia MONDO:0000001 Orphanet:586130 Orphanet:377788 disease +MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0000001 Orphanet:592564 Orphanet:377788 disease +MONDO:0035678 Timothy syndrome type 1 MONDO:0010979 Orphanet:595098 Orphanet:65283 Timothy syndrome +MONDO:0035679 Timothy syndrome type 2 MONDO:0010979 Orphanet:595105 Orphanet:65283 Timothy syndrome +MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0000001 Orphanet:596759 Orphanet:377788 disease +MONDO:0035735 acquired hemophilia A MONDO:0000001 Orphanet:599480 Orphanet:377788 disease +MONDO:0035736 acquired hemophilia B MONDO:0000001 Orphanet:599485 Orphanet:377788 disease +MONDO:0035737 acquired factor V deficiency MONDO:0000001 Orphanet:599490 Orphanet:377788 disease +MONDO:0035738 acquired factor VII deficiency MONDO:0000001 Orphanet:599495 Orphanet:377788 disease +MONDO:0035740 acquired factor XI deficiency MONDO:0000001 Orphanet:599507 Orphanet:377788 disease +MONDO:0035742 factor V short isoforms-related bleeding disorder MONDO:0000001 Orphanet:599519 Orphanet:377788 disease +MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance MONDO:0018170 Orphanet:567546 Orphanet:357502 idiopathic nephrotic syndrome +MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0000001 Orphanet:600668 Orphanet:377788 disease +MONDO:0035776 combined deficiency of factor VII and factor X MONDO:0000001 Orphanet:600691 Orphanet:377788 disease +MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome MONDO:0000001 Orphanet:603694 Orphanet:377788 disease +MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers MONDO:0000001 Orphanet:604680 Orphanet:377788 disease +MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers MONDO:0018947 Orphanet:604680 Orphanet:595 centronuclear myopathy +MONDO:0035879 granuloma faciale MONDO:0000001 Orphanet:615943 Orphanet:377788 disease +MONDO:0035882 chronic intervillositis of unknown etiology MONDO:0000001 Orphanet:615970 Orphanet:377788 disease +MONDO:0035892 Mills syndrome MONDO:0000001 Orphanet:94091 Orphanet:377788 disease +MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia MONDO:0000001 Orphanet:597939 Orphanet:377788 disease +MONDO:0036193 parkinsonism with polyneuropathy MONDO:0000001 Orphanet:611237 Orphanet:377788 disease +MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation MONDO:0000001 Orphanet:99710 Orphanet:377788 disease +MONDO:0041186 Rowell syndrome MONDO:0000001 Orphanet:658584 Orphanet:377788 disease +MONDO:0043257 pemphigus and fogo selvagem MONDO:0000001 Orphanet:636955 Orphanet:377788 disease +MONDO:0043317 amyopathic dermatomyositis MONDO:0016367 Orphanet:645617 Orphanet:221 dermatomyositis +MONDO:0043349 intravascular papillary endothelial hyperplasia MONDO:0000001 Orphanet:673525 Orphanet:377788 disease +MONDO:0043361 May-Thurner syndrome MONDO:0000001 Orphanet:675404 Orphanet:377788 disease +MONDO:0044067 candidiasis, invasive MONDO:0000001 Orphanet:636945 Orphanet:377788 disease +MONDO:0044202 episodic kinesigenic dyskinesia MONDO:0000001 Orphanet:98809 Orphanet:377788 disease +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0000001 Orphanet:646278 Orphanet:377788 disease +MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0000001 Orphanet:508523 Orphanet:377788 disease +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0000001 Orphanet:500545 Orphanet:377788 disease +MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MONDO:0000001 Orphanet:653767 Orphanet:377788 disease +MONDO:0044332 childhood-onset benign chorea with striatal involvement MONDO:0000001 Orphanet:494541 Orphanet:377788 disease +MONDO:0044355 isolated sternocostoclavicular hyperostosis MONDO:0000001 Orphanet:178311 Orphanet:377788 disease +MONDO:0044622 EMILIN-1-related connective tissue disease MONDO:0000001 Orphanet:485418 Orphanet:377788 disease +MONDO:0044624 pediatric collagenous gastritis MONDO:0000001 Orphanet:487809 Orphanet:377788 disease +MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation MONDO:0000001 Orphanet:487814 Orphanet:377788 disease +MONDO:0044626 female infertility due to oocyte meiotic arrest MONDO:0000001 Orphanet:488191 Orphanet:377788 disease +MONDO:0044627 acute macular neuroretinopathy MONDO:0000001 Orphanet:488239 Orphanet:377788 disease +MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis MONDO:0000001 Orphanet:494428 Orphanet:377788 disease +MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome MONDO:0000001 Orphanet:494444 Orphanet:377788 disease +MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement MONDO:0000001 Orphanet:494526 Orphanet:377788 disease +MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0000001 Orphanet:494547 Orphanet:377788 disease +MONDO:0044640 Charcot-Marie-Tooth disease type 2T MONDO:0000001 Orphanet:495274 Orphanet:377788 disease +MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy MONDO:0000001 Orphanet:495844 Orphanet:377788 disease +MONDO:0044645 familial monosomy 7 syndrome MONDO:0000001 Orphanet:495930 Orphanet:377788 disease +MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome MONDO:0000001 Orphanet:496686 Orphanet:377788 disease +MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome MONDO:0000001 Orphanet:496689 Orphanet:377788 disease +MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0000001 Orphanet:496756 Orphanet:377788 disease +MONDO:0044656 epidermolytic nevus MONDO:0000001 Orphanet:497737 Orphanet:377788 disease +MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0000001 Orphanet:497757 Orphanet:377788 disease +MONDO:0044660 menstrual cycle-dependent periodic fever MONDO:0000001 Orphanet:498251 Orphanet:377788 disease +MONDO:0044663 aquagenic palmoplantar keratoderma MONDO:0000001 Orphanet:498359 Orphanet:377788 disease +MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO:0000001 Orphanet:498693 Orphanet:377788 disease +MONDO:0044688 isolated optic neuritis MONDO:0000001 Orphanet:499096 Orphanet:377788 disease +MONDO:0044689 recurrent idiopathic neuroretinitis MONDO:0000001 Orphanet:499103 Orphanet:377788 disease +MONDO:0044690 optic perineuritis MONDO:0000001 Orphanet:499107 Orphanet:377788 disease +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0000001 Orphanet:500180 Orphanet:377788 disease +MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0000001 Orphanet:500478 Orphanet:377788 disease +MONDO:0044705 paranasal sinus squamous cell carcinoma MONDO:0000001 Orphanet:500464 Orphanet:377788 disease +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0000001 Orphanet:502423 Orphanet:377788 disease +MONDO:0044718 alkaline ceramidase 3 deficiency MONDO:0000001 Orphanet:502444 Orphanet:377788 disease +MONDO:0044719 erythema multiforme major MONDO:0000001 Orphanet:502499 Orphanet:377788 disease +MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0000001 Orphanet:504476 Orphanet:377788 disease +MONDO:0044721 severe combined immunodeficiency due to LAT deficiency MONDO:0000001 Orphanet:504523 Orphanet:377788 disease +MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0000001 Orphanet:505208 Orphanet:377788 disease +MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0000001 Orphanet:505216 Orphanet:377788 disease +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency MONDO:0000001 Orphanet:505227 Orphanet:377788 disease +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0000001 Orphanet:505242 Orphanet:377788 disease +MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0000001 Orphanet:506112 Orphanet:377788 disease +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0000001 Orphanet:506353 Orphanet:377788 disease +MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:0000001 Orphanet:512103 Orphanet:377788 disease +MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:0017266 Orphanet:512103 Orphanet:281103 keratinopathic ichthyosis +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0000001 Orphanet:86893 Orphanet:377788 disease +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0000001 Orphanet:529852 Orphanet:377788 disease +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0018531 Orphanet:529852 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0018918 Orphanet:529852 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract +MONDO:0044792 large congenital melanocytic nevus MONDO:0000001 Orphanet:626 Orphanet:377788 disease +MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0000001 Orphanet:623626 Orphanet:377788 disease +MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0000001 Orphanet:435934 Orphanet:377788 disease +MONDO:0054636 Skraban-Deardorff syndrome MONDO:0000001 Orphanet:513456 Orphanet:377788 disease +MONDO:0054680 epiphyseal dysplasia, multiple, 7 MONDO:0000001 Orphanet:647676 Orphanet:377788 disease +MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000001 Orphanet:457223 Orphanet:377788 disease +MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0000001 Orphanet:569290 Orphanet:377788 disease +MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0000001 Orphanet:536532 Orphanet:377788 disease +MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0000001 Orphanet:521414 Orphanet:377788 disease +MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0000001 Orphanet:527276 Orphanet:377788 disease +MONDO:0060507 retinal dystrophy with or without macular staphyloma MONDO:0000001 Orphanet:653709 Orphanet:377788 disease +MONDO:0060532 congenital heart defects and skeletal malformations syndrome MONDO:0000001 Orphanet:643503 Orphanet:377788 disease +MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0000001 Orphanet:656130 Orphanet:377788 disease +MONDO:0060564 HELIX syndrome MONDO:0000001 Orphanet:528105 Orphanet:377788 disease +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0000001 Orphanet:572798 Orphanet:377788 disease +MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0000001 Orphanet:542585 Orphanet:377788 disease +MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0000001 Orphanet:658813 Orphanet:377788 disease +MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language MONDO:0000001 Orphanet:647788 Orphanet:377788 disease +MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0000001 Orphanet:610569 Orphanet:377788 disease +MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0000001 Orphanet:597623 Orphanet:377788 disease +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0000001 Orphanet:662829 Orphanet:377788 disease +MONDO:0100038 complex neurodevelopmental disorder MONDO:0000001 Orphanet:528084 Orphanet:377788 disease +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015161 Orphanet:994 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015168 Orphanet:994 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015929 Orphanet:994 Orphanet:182108 thoracic malformation +MONDO:0100115 acute flaccid myelitis MONDO:0000001 Orphanet:623801 Orphanet:377788 disease +MONDO:0100116 Middle East respiratory syndrome MONDO:0000001 Orphanet:576074 Orphanet:377788 disease +MONDO:0100130 adult acute respiratory distress syndrome MONDO:0000001 Orphanet:70578 Orphanet:377788 disease +MONDO:0100133 mitochondrial complex I deficiency MONDO:0000001 Orphanet:2609 Orphanet:377788 disease +MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0000001 Orphanet:99885 Orphanet:377788 disease +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0000001 Orphanet:220465 Orphanet:377788 disease +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0015892 Orphanet:220465 Orphanet:181393 growth hormone insensitivity syndrome +MONDO:0100212 IFAP syndrome MONDO:0000001 Orphanet:2273 Orphanet:377788 disease +MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0000001 Orphanet:178506 Orphanet:377788 disease +MONDO:0100234 paroxysmal familial ventricular fibrillation MONDO:0000001 Orphanet:228140 Orphanet:377788 disease +MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0000001 Orphanet:447 Orphanet:377788 disease +MONDO:0100255 adenosine kinase deficiency MONDO:0000001 Orphanet:289290 Orphanet:377788 disease +MONDO:0100255 adenosine kinase deficiency MONDO:0019222 Orphanet:289290 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0000001 Orphanet:33226 Orphanet:377788 disease +MONDO:0100289 Goldmann-Favre syndrome MONDO:0000001 Orphanet:53540 Orphanet:377788 disease +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0000001 Orphanet:3208 Orphanet:377788 disease +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0009637 Orphanet:3208 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0100325 odontochondrodysplasia 1 MONDO:0016763 Orphanet:166272 Orphanet:254 spondylometaphyseal dysplasia +MONDO:0100326 Glanzmann thrombasthenia MONDO:0000001 Orphanet:849 Orphanet:377788 disease +MONDO:0100339 Friedreich ataxia MONDO:0000001 Orphanet:95 Orphanet:377788 disease +MONDO:0100349 COACH syndrome MONDO:0000001 Orphanet:1454 Orphanet:377788 disease +MONDO:0100350 neuronopathy, distal hereditary motor, type 5 MONDO:0000001 Orphanet:139536 Orphanet:377788 disease +MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0000001 Orphanet:69665 Orphanet:377788 disease +MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0000001 Orphanet:329211 Orphanet:377788 disease +MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0000001 Orphanet:251262 Orphanet:377788 disease +MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0005380 Orphanet:251262 Orphanet:399158 osteonecrosis +MONDO:0100466 butterfly-shaped pigment dystrophy MONDO:0000001 Orphanet:99001 Orphanet:377788 disease +MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0000001 Orphanet:85138 Orphanet:377788 disease +MONDO:0100491 generalized pustular psoriasis MONDO:0000001 Orphanet:247353 Orphanet:377788 disease +MONDO:0100508 salivary gland type cancer of the breast MONDO:0000001 Orphanet:213557 Orphanet:377788 disease +MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 Orphanet:85447 Orphanet:271861 familial amyloid neuropathy +MONDO:0100566 myoclonic epilepsy in infancy MONDO:0000001 Orphanet:86909 Orphanet:377788 disease +MONDO:0100567 hereditary angioedema with normal C1Inh MONDO:0000001 Orphanet:528647 Orphanet:377788 disease +MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0000001 Orphanet:98810 Orphanet:377788 disease +MONDO:0700275 prostate cancer, hereditary MONDO:0000001 Orphanet:1331 Orphanet:377788 disease +MONDO:0700282 POLR3-related leukodystrophy MONDO:0000001 Orphanet:289494 Orphanet:377788 disease +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0000001 Orphanet:661 Orphanet:377788 disease +MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0000001 Orphanet:313808 Orphanet:377788 disease +MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant MONDO:0000001 Orphanet:324588 Orphanet:377788 disease +MONDO:0800029 interstitial lung disease 2 MONDO:0000001 Orphanet:2032 Orphanet:377788 disease +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0000001 Orphanet:436252 Orphanet:377788 disease +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0000001 Orphanet:404454 Orphanet:377788 disease +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0000001 Orphanet:674762 Orphanet:377788 disease +MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0000001 Orphanet:171706 Orphanet:377788 disease +MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency MONDO:0000001 Orphanet:220443 Orphanet:377788 disease +MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0000001 Orphanet:135 Orphanet:377788 disease +MONDO:0800449 lysosomal acid lipase deficiency MONDO:0000001 Orphanet:275761 Orphanet:377788 disease +MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0000001 Orphanet:3319 Orphanet:377788 disease +MONDO:0800453 juvenile absence epilepsy MONDO:0000001 Orphanet:1941 Orphanet:377788 disease +MONDO:0800478 trigeminal trophic syndrome MONDO:0000001 Orphanet:664901 Orphanet:377788 disease +MONDO:0850013 twin anemia-polycythemia sequence MONDO:0000001 Orphanet:617294 Orphanet:377788 disease +MONDO:0850014 twin-reversed arterial perfusion sequence MONDO:0000001 Orphanet:617297 Orphanet:377788 disease +MONDO:0850015 selective intrauterine growth restriction MONDO:0000001 Orphanet:617301 Orphanet:377788 disease +MONDO:0850046 amniotic fluid embolism MONDO:0000001 Orphanet:617304 Orphanet:377788 disease +MONDO:0850048 classic eosinophilic pustular folliculitis MONDO:0000001 Orphanet:617408 Orphanet:377788 disease +MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome MONDO:0000001 Orphanet:617449 Orphanet:377788 disease +MONDO:0850053 F12-associated cold autoinflammatory syndrome MONDO:0000001 Orphanet:617919 Orphanet:377788 disease +MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0000001 Orphanet:618891 Orphanet:377788 disease +MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0000001 Orphanet:619233 Orphanet:377788 disease +MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0000001 Orphanet:619363 Orphanet:377788 disease +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0000001 Orphanet:619367 Orphanet:377788 disease +MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0000001 Orphanet:619941 Orphanet:377788 disease +MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0000001 Orphanet:619948 Orphanet:377788 disease +MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0000001 Orphanet:619953 Orphanet:377788 disease +MONDO:0850070 CADINS disease MONDO:0000001 Orphanet:619972 Orphanet:377788 disease +MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0000001 Orphanet:619979 Orphanet:377788 disease +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0000001 Orphanet:620363 Orphanet:377788 disease +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0000001 Orphanet:620368 Orphanet:377788 disease +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0015962 Orphanet:620368 Orphanet:183592 inherited renal tubular disease +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0017765 Orphanet:620368 Orphanet:309848 disorder of magnesium transport +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0000001 Orphanet:620371 Orphanet:377788 disease +MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0000001 Orphanet:621758 Orphanet:377788 disease +MONDO:0850097 autoimmune limbic encephalitis MONDO:0000001 Orphanet:623615 Orphanet:377788 disease +MONDO:0850100 body integrity dysphoria MONDO:0000001 Orphanet:623789 Orphanet:377788 disease +MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0000001 Orphanet:624166 Orphanet:377788 disease +MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0000001 Orphanet:624178 Orphanet:377788 disease +MONDO:0850104 paraneoplastic isolated brainstem encephalitis MONDO:0000001 Orphanet:624190 Orphanet:377788 disease +MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies MONDO:0000001 Orphanet:624199 Orphanet:377788 disease +MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies MONDO:0000001 Orphanet:624216 Orphanet:377788 disease +MONDO:0850107 postinfectious cerebellitis MONDO:0000001 Orphanet:624244 Orphanet:377788 disease +MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies MONDO:0000001 Orphanet:624259 Orphanet:377788 disease +MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies MONDO:0000001 Orphanet:624268 Orphanet:377788 disease +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma MONDO:0000001 Orphanet:667662 Orphanet:377788 disease +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma MONDO:0015760 Orphanet:667662 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0000001 Orphanet:99704 Orphanet:377788 disease +MONDO:0858997 cancer of unknown primary site MONDO:0000001 Orphanet:631251 Orphanet:377788 disease +MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0000001 Orphanet:633004 Orphanet:377788 disease +MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0000001 Orphanet:633014 Orphanet:377788 disease +MONDO:0859001 CPE-related Prader-Willi-like syndrome MONDO:0000001 Orphanet:633028 Orphanet:377788 disease +MONDO:0859004 invasive scopulariopsis infection MONDO:0000001 Orphanet:633124 Orphanet:377788 disease +MONDO:0859007 mosaic Legius syndrome MONDO:0000001 Orphanet:634511 Orphanet:377788 disease +MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO:0000001 Orphanet:641361 Orphanet:377788 disease +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0000001 Orphanet:660017 Orphanet:377788 disease +MONDO:0859267 tumor predisposition syndrome 2 MONDO:0000001 Orphanet:661526 Orphanet:377788 disease +MONDO:0859340 spinocerebellar ataxia 27B, late-onset MONDO:0000001 Orphanet:675216 Orphanet:377788 disease +MONDO:0859763 mosaic neurofibromatosis type 1 MONDO:0000001 Orphanet:634461 Orphanet:377788 disease +MONDO:0859764 mosaic NF2-related schwannomatosis MONDO:0000001 Orphanet:634475 Orphanet:377788 disease +MONDO:0859765 mosaic schwannomatosis MONDO:0000001 Orphanet:634492 Orphanet:377788 disease +MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 MONDO:0000001 Orphanet:653725 Orphanet:377788 disease +MONDO:0957421 borna virus encephalitis MONDO:0000001 Orphanet:637051 Orphanet:377788 disease +MONDO:0957423 immunotherapy induced hypophysitis MONDO:0000001 Orphanet:641350 Orphanet:377788 disease +MONDO:0957426 autosomal recessive hyper-IgE syndrome MONDO:0000001 Orphanet:641368 Orphanet:377788 disease +MONDO:0957430 childhood-onset schizophrenia MONDO:0000001 Orphanet:641496 Orphanet:377788 disease +MONDO:0957433 primary pulmonary vein stenosis MONDO:0000001 Orphanet:642071 Orphanet:377788 disease +MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0000001 Orphanet:642954 Orphanet:377788 disease +MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0000001 Orphanet:642965 Orphanet:377788 disease +MONDO:0957452 segmental arterial mediolysis MONDO:0000001 Orphanet:645350 Orphanet:377788 disease +MONDO:0957460 spontaneous intestinal perforation MONDO:0000001 Orphanet:645793 Orphanet:377788 disease +MONDO:0957461 primary tuberculous lymphadenitis MONDO:0000001 Orphanet:645807 Orphanet:377788 disease +MONDO:0957462 primary pulmonary tuberculosis MONDO:0000001 Orphanet:645814 Orphanet:377788 disease +MONDO:0957462 primary pulmonary tuberculosis MONDO:0018076 Orphanet:645814 Orphanet:3389 tuberculosis +MONDO:0957463 primary bone and joint tuberculosis MONDO:0000001 Orphanet:645822 Orphanet:377788 disease +MONDO:0957464 primary cutaneous tuberculosis MONDO:0000001 Orphanet:645849 Orphanet:377788 disease +MONDO:0957464 primary cutaneous tuberculosis MONDO:0018076 Orphanet:645849 Orphanet:3389 tuberculosis +MONDO:0957465 multifocal tuberculosis MONDO:0000001 Orphanet:645854 Orphanet:377788 disease +MONDO:0957466 primary tuberculosis of the digestive system MONDO:0000001 Orphanet:645859 Orphanet:377788 disease +MONDO:0957467 primary genito-urinary tuberculosis MONDO:0000001 Orphanet:645874 Orphanet:377788 disease +MONDO:0957467 primary genito-urinary tuberculosis MONDO:0018076 Orphanet:645874 Orphanet:3389 tuberculosis +MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0000001 Orphanet:647799 Orphanet:377788 disease +MONDO:0957481 idiopathic pregnancy-associated osteoporosis MONDO:0000001 Orphanet:647823 Orphanet:377788 disease +MONDO:0957487 idiopathic catatonia MONDO:0000001 Orphanet:648919 Orphanet:377788 disease +MONDO:0958085 digenic hemochromatosis MONDO:0000001 Orphanet:648581 Orphanet:377788 disease +MONDO:0958091 cleft palate-congenital heart defect-intellectual disability syndrome MONDO:0000001 Orphanet:652519 Orphanet:377788 disease +MONDO:0958094 adult-onset progressive leukoencephalopathy-early-onset deafness MONDO:0000001 Orphanet:652532 Orphanet:377788 disease +MONDO:0958095 Nodal T-follicular helper cell lymphoma, follicular type MONDO:0000001 Orphanet:652650 Orphanet:377788 disease +MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma MONDO:0000001 Orphanet:652658 Orphanet:377788 disease +MONDO:0958099 idiopathic subglottic stenosis MONDO:0000001 Orphanet:652681 Orphanet:377788 disease +MONDO:0958101 lymphocytic mastitis MONDO:0000001 Orphanet:653698 Orphanet:377788 disease +MONDO:0958106 congenital insensitivity to pain syndrome, Marsili type MONDO:0000001 Orphanet:653728 Orphanet:377788 disease +MONDO:0958110 atrophic papulosis MONDO:0000001 Orphanet:656071 Orphanet:377788 disease +MONDO:0958115 autosomal recessive combined immunodeficiency due to complete IL6ST deficiency MONDO:0000001 Orphanet:656283 Orphanet:377788 disease +MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency MONDO:0000001 Orphanet:656300 Orphanet:377788 disease +MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency MONDO:0000001 Orphanet:656313 Orphanet:377788 disease +MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency MONDO:0000001 Orphanet:656326 Orphanet:377788 disease +MONDO:0958119 embryonal tumor with multilayered rosettes MONDO:0000001 Orphanet:656417 Orphanet:377788 disease +MONDO:0958120 autosomal dominant combined immunodeficiency due to ERBIN deficiency MONDO:0000001 Orphanet:656912 Orphanet:377788 disease +MONDO:0958122 idiopathic small fibers neuropathy MONDO:0000001 Orphanet:658549 Orphanet:377788 disease +MONDO:0958127 transplant-related bronchiolitis obliterans MONDO:0000001 Orphanet:658602 Orphanet:377788 disease +MONDO:0958128 non-transplant-related bronchiolitis obliterans MONDO:0000001 Orphanet:658612 Orphanet:377788 disease +MONDO:0958129 COQ7-related distal hereditary motor neuropathy MONDO:0000001 Orphanet:658778 Orphanet:377788 disease +MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency MONDO:0000001 Orphanet:658946 Orphanet:377788 disease +MONDO:0958138 early-onset immune dysregulation due to DOCK11 complete deficiency MONDO:0000001 Orphanet:658951 Orphanet:377788 disease +MONDO:0958256 pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome MONDO:0000001 Orphanet:641385 Orphanet:377788 disease +MONDO:0958257 psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome MONDO:0000001 Orphanet:641390 Orphanet:377788 disease +MONDO:0958258 Cushing syndrome due to cortisol-producing adrenocortical adenoma MONDO:0000001 Orphanet:642788 Orphanet:377788 disease +MONDO:0958262 isolated primary pigmented nodular adrenocortical disease MONDO:0000001 Orphanet:647772 Orphanet:377788 disease +MONDO:0958263 isolated micronodular adrenocortical disease MONDO:0000001 Orphanet:647782 Orphanet:377788 disease +MONDO:0958264 infectious scleritis MONDO:0000001 Orphanet:648665 Orphanet:377788 disease +MONDO:0958265 idiopathic scleritis MONDO:0000001 Orphanet:648675 Orphanet:377788 disease +MONDO:0958266 immune-mediated scleritis MONDO:0000001 Orphanet:648681 Orphanet:377788 disease +MONDO:0958275 segmental spinal dysgenesis MONDO:0000001 Orphanet:656126 Orphanet:377788 disease +MONDO:0958343 PAPASH syndrome MONDO:0000001 Orphanet:641380 Orphanet:377788 disease +MONDO:0958353 intermediate collagen VI-related muscular dystrophy MONDO:0000001 Orphanet:646113 Orphanet:377788 disease +MONDO:0958354 genetic central precocious puberty in female MONDO:0000001 Orphanet:650077 Orphanet:377788 disease +MONDO:0958355 secondary central precocious puberty in female MONDO:0000001 Orphanet:650082 Orphanet:377788 disease +MONDO:0958356 primary central precocious puberty in male MONDO:0000001 Orphanet:650087 Orphanet:377788 disease +MONDO:0958357 secondary central precocious puberty in male MONDO:0000001 Orphanet:650092 Orphanet:377788 disease +MONDO:0971056 ocular surface squamous neoplasia MONDO:0000001 Orphanet:659744 Orphanet:377788 disease +MONDO:0971063 autosomal dominant dopa-responsive dystonia MONDO:0000001 Orphanet:98808 Orphanet:377788 disease +MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0000001 Orphanet:661412 Orphanet:377788 disease +MONDO:0971077 episodic memory defect leukoencephalopathy MONDO:0000001 Orphanet:662229 Orphanet:377788 disease +MONDO:0971105 neonatal renal venous thrombosis MONDO:0000001 Orphanet:664912 Orphanet:377788 disease +MONDO:0971111 intraoral basal cell carcinoma MONDO:0000001 Orphanet:667678 Orphanet:377788 disease +MONDO:0971123 isolated retinal racemose hemangioma MONDO:0000001 Orphanet:674924 Orphanet:377788 disease +MONDO:0971124 perifoveal exudative vascular anomalous complex MONDO:0000001 Orphanet:674930 Orphanet:377788 disease +MONDO:0971125 torpedo maculopathy MONDO:0000001 Orphanet:674935 Orphanet:377788 disease +MONDO:0971126 isolated angioid streaks MONDO:0000001 Orphanet:674943 Orphanet:377788 disease +MONDO:0971127 diffuse unilateral subacute neuroretinitis MONDO:0000001 Orphanet:674947 Orphanet:377788 disease +MONDO:0971128 multiple evanescent white dot syndrome MONDO:0000001 Orphanet:674953 Orphanet:377788 disease +MONDO:0971129 stellate multiform amelanotic choroidopathy MONDO:0000001 Orphanet:674958 Orphanet:377788 disease +MONDO:0971130 choroidal osteoma MONDO:0000001 Orphanet:674965 Orphanet:377788 disease +MONDO:0971131 bilateral diffuse uveal melanocytic proliferation disease MONDO:0000001 Orphanet:674968 Orphanet:377788 disease +MONDO:0971133 isolated segmental infantile hemangioma MONDO:0000001 Orphanet:675380 Orphanet:377788 disease +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0000001 Orphanet:675775 Orphanet:377788 disease +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0000001 Orphanet:675782 Orphanet:377788 disease +MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura MONDO:0000001 Orphanet:675822 Orphanet:377788 disease +MONDO:0971145 peritoneal mesothelioma in situ MONDO:0000001 Orphanet:676036 Orphanet:377788 disease +MONDO:0975752 littoral cell hemangioma of the spleen MONDO:0000001 Orphanet:673538 Orphanet:377788 disease +MONDO:0975753 papillary hemangioma MONDO:0000001 Orphanet:673543 Orphanet:377788 disease +MONDO:0975754 pseudomyogenic hemangioendothelioma MONDO:0000001 Orphanet:673556 Orphanet:377788 disease +MONDO:0975755 eccrine angiomatous hamartoma MONDO:0000001 Orphanet:673568 Orphanet:377788 disease +MONDO:0975756 reactive angioendotheliomatosis MONDO:0000001 Orphanet:673574 Orphanet:377788 disease +MONDO:0975757 anastomosing haemangioma MONDO:0000001 Orphanet:675359 Orphanet:377788 disease +MONDO:0975758 microvenular haemangioma MONDO:0000001 Orphanet:675369 Orphanet:377788 disease +MONDO:0975759 acquired elastotic haemangioma MONDO:0000001 Orphanet:675597 Orphanet:377788 disease +MONDO:1040033 congenital muscular dystrophy without intellectual disability MONDO:0000001 Orphanet:370980 Orphanet:377788 disease +MONDO:8000006 WHIM syndrome 1 MONDO:0000001 Orphanet:51636 Orphanet:377788 disease +MONDO:8000010 antiphospholipid syndrome MONDO:0000001 Orphanet:80 Orphanet:377788 disease +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0000001 Orphanet:456312 Orphanet:377788 disease diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index 4b78a576..1884cf85 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -1337,7 +1337,6 @@ MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0015 MONDO:0010886 2q37 microdeletion syndrome MONDO:0016901 Orphanet:1001 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0019280 Orphanet:3387 Orphanet:79365 hypertrichosis MONDO:0010890 acrocardiofacial syndrome MONDO:0015159 Orphanet:2008 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy MONDO:0010907 familial hypertryptophanemia MONDO:0017350 Orphanet:2224 Orphanet:289829 inborn disorder of tryptophan metabolism MONDO:0010908 loose anagen syndrome MONDO:0004907 Orphanet:168 Orphanet:79364 alopecia MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:0015515 Orphanet:228305 Orphanet:157 carnitine palmitoyltransferase II deficiency @@ -2201,7 +2200,6 @@ MONDO:0014837 thrombocytopenia 6 MONDO:0018795 Orphanet:480851 Orphanet:477794 s MONDO:0014837 thrombocytopenia 6 MONDO:0020076 Orphanet:480851 Orphanet:98274 myeloproliferative neoplasm MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0018446 Orphanet:404493 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0015159 Orphanet:488642 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015653 Orphanet:488613 Orphanet:166472 monogenic epilepsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0017766 Orphanet:521406 Orphanet:309851 disorder of manganese transport MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0028226 Orphanet:420702 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0015929 Orphanet:464366 Orphanet:182108 thoracic malformation diff --git a/src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv b/src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv new file mode 100644 index 00000000..33d8e05e --- /dev/null +++ b/src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv @@ -0,0 +1,8960 @@ +subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label +ID SC % >A oboInOwl:source +MONDO:0000023 infantile liver failure MONDO:0005154 DOID:0080716 DOID:409 liver disorder +MONDO:0000050 isolated congenital growth hormone deficiency MONDO:0005152 DOID:0060870 DOID:9406 hypopituitarism +MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0002254 DOID:0080688 DOID:225 syndromic disease +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0019950 DOID:0050560 DOID:0050557 congenital muscular dystrophy +MONDO:0000193 cortisone reductase deficiency MONDO:0005151 DOID:0090139 DOID:28 endocrine system disorder +MONDO:0000229 Indian tick typhus MONDO:0001195 DOID:0050042 DOID:11104 spotted fever +MONDO:0000230 Israeli tick typhus MONDO:0001195 DOID:0050043 DOID:11104 spotted fever +MONDO:0000231 Far eastern spotted fever MONDO:0001195 DOID:0050046 DOID:11104 spotted fever +MONDO:0000240 invasive aspergillosis MONDO:0005275 DOID:0050073 DOID:850 lung disorder +MONDO:0000240 invasive aspergillosis MONDO:0005657 DOID:0050073 DOID:13564 aspergillosis +MONDO:0000242 tinea barbae MONDO:0005093 DOID:0050096 DOID:37 skin disorder +MONDO:0000244 endothrix infectious disease MONDO:0002917 DOID:0050105 DOID:421 disorder of pilosebaceous unit +MONDO:0000248 dengue shock syndrome MONDO:0005502 DOID:0050125 DOID:12205 dengue disease +MONDO:0000250 osmotic diarrheal disease MONDO:0001673 DOID:0050130 DOID:13250 diarrheal disease +MONDO:0000255 subcutaneous mycosis MONDO:0002041 DOID:0050135 DOID:1564 fungal infectious disease +MONDO:0000261 adenoiditis MONDO:0004867 DOID:0050145 DOID:974 upper respiratory tract disorder +MONDO:0000263 laryngotracheitis MONDO:0004867 DOID:0050148 DOID:974 upper respiratory tract disorder +MONDO:0000266 pulmonary aspergilloma MONDO:0005275 DOID:0050153 DOID:850 lung disorder +MONDO:0000271 tuberculous salpingitis MONDO:0002156 DOID:0050166 DOID:1962 fallopian tube disorder +MONDO:0000290 primary amebic meningoencephalitis MONDO:0002602 DOID:0050242 DOID:331 central nervous system disorder +MONDO:0000291 granulomatous amebic encephalitis MONDO:0005560 DOID:0050246 DOID:936 brain disorder +MONDO:0000292 philophthalmiasis MONDO:0004664 DOID:0050250 DOID:883 helminthiasis +MONDO:0000293 coenurosis MONDO:0004664 DOID:0050251 DOID:883 helminthiasis +MONDO:0000294 mesocestoidiasis MONDO:0004664 DOID:0050253 DOID:883 helminthiasis +MONDO:0000297 baylisascariasis MONDO:0004664 DOID:0050259 DOID:883 helminthiasis +MONDO:0000298 dioctophymiasis MONDO:0004664 DOID:0050260 DOID:883 helminthiasis +MONDO:0000299 thelaziasis MONDO:0004664 DOID:0050261 DOID:883 helminthiasis +MONDO:0000301 ophthalmomyiasis MONDO:0019147 DOID:0050268 DOID:11080 myiasis +MONDO:0000304 penicilliosis MONDO:0002312 DOID:0050288 DOID:2473 opportunistic mycosis +MONDO:0000306 trichosporonosis MONDO:0002312 DOID:0050290 DOID:2473 opportunistic mycosis +MONDO:0000334 multinodular goiter MONDO:0005397 DOID:0050489 DOID:12176 goiter +MONDO:0000339 spinal polio MONDO:0002545 DOID:0050513 DOID:319 spinal cord disorder +MONDO:0000341 paralytic poliomyelitis MONDO:0002602 DOID:0050515 DOID:331 central nervous system disorder +MONDO:0000342 O'nyong'nyong fever MONDO:0005108 DOID:0050516 DOID:934 viral infectious disease +MONDO:0000343 Barmah forest virus disease MONDO:0005108 DOID:0050517 DOID:934 viral infectious disease +MONDO:0000344 Ross river fever MONDO:0005108 DOID:0050518 DOID:934 viral infectious disease +MONDO:0000345 Oropouche fever MONDO:0005108 DOID:0050521 DOID:934 viral infectious disease +MONDO:0000351 disorder of methionine catabolism MONDO:0004736 DOID:0050544 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0000365 primary congenital glaucoma MONDO:0005041 DOID:0050593 DOID:1686 glaucoma +MONDO:0000367 taeniasis MONDO:0004664 DOID:0050596 DOID:883 helminthiasis +MONDO:0000371 oral cavity carcinoma in situ MONDO:0006858 DOID:0050610 DOID:403 mouth disorder +MONDO:0000373 gall bladder carcinoma in situ MONDO:0005281 DOID:0050612 DOID:0060262 gallbladder disorder +MONDO:0000374 bile duct carcinoma in situ MONDO:0002887 DOID:0050613 DOID:4138 bile duct disorder +MONDO:0000374 bile duct carcinoma in situ MONDO:0004647 DOID:0050613 DOID:8719 in situ carcinoma +MONDO:0000375 bronchus carcinoma in situ MONDO:0001358 DOID:0050614 DOID:1176 bronchial disorder +MONDO:0000375 bronchus carcinoma in situ MONDO:0004647 DOID:0050614 DOID:8719 in situ carcinoma +MONDO:0000380 paranasal sinus carcinoma MONDO:0000376 DOID:0050619 DOID:0050615 respiratory system cancer +MONDO:0000380 paranasal sinus carcinoma MONDO:0001735 DOID:0050619 DOID:1352 paranasal sinus disorder +MONDO:0000383 benign reproductive system neoplasm MONDO:0005039 DOID:0050622 DOID:15 reproductive system disorder +MONDO:0000384 bladder benign neoplasm MONDO:0006026 DOID:0050623 DOID:365 urinary bladder disorder +MONDO:0000402 small cell carcinoma MONDO:0004993 DOID:0050685 DOID:305 carcinoma +MONDO:0000409 chorioamnionitis MONDO:0005917 DOID:0050697 DOID:780 placenta disorder +MONDO:0000421 inborn serine deficiency MONDO:0004736 DOID:0050721 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0000450 secondary progressive multiple sclerosis MONDO:0005301 DOID:0050783 DOID:2377 multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis MONDO:0005301 DOID:0050784 DOID:2377 multiple sclerosis +MONDO:0000452 progressive relapsing multiple sclerosis MONDO:0005301 DOID:0050785 DOID:2377 multiple sclerosis +MONDO:0000455 cone dystrophy MONDO:0005283 DOID:0050795 DOID:5679 retinal disorder +MONDO:0000461 nutritional biotin deficiency MONDO:0006873 DOID:0050810 DOID:5113 nutritional deficiency disease +MONDO:0000469 sinoatrial node disorder MONDO:0003939 DOID:0050824 DOID:0080000 muscle tissue disorder +MONDO:0000474 pericardium disorder MONDO:0004995 DOID:0050829 DOID:1287 cardiovascular disorder +MONDO:0000476 generalized dystonia MONDO:0003441 DOID:0050835 DOID:543 dystonic disorder +MONDO:0000488 periampullary adenoma MONDO:0004972 DOID:0050849 DOID:657 adenoma +MONDO:0000494 renal fibrosis MONDO:0005240 DOID:0050855 DOID:557 kidney disorder +MONDO:0000500 tongue squamous cell carcinoma MONDO:0010150 DOID:0050865 DOID:5520 head and neck squamous cell carcinoma +MONDO:0000510 synucleinopathy MONDO:0005559 DOID:0050890 DOID:1289 neurodegenerative disease +MONDO:0000519 corpus callosum oligodendroglioma MONDO:0016695 DOID:0050901 DOID:3181 oligodendroglioma +MONDO:0000521 salivary gland carcinoma MONDO:0004993 DOID:0050904 DOID:305 carcinoma +MONDO:0000525 cecum villous adenoma MONDO:0004972 DOID:0050910 DOID:657 adenoma +MONDO:0000527 colon adenoma MONDO:0004972 DOID:0050912 DOID:657 adenoma +MONDO:0000530 rectum adenoma MONDO:0002165 DOID:0050915 DOID:1984 rectal neoplasm +MONDO:0000530 rectum adenoma MONDO:0004972 DOID:0050915 DOID:657 adenoma +MONDO:0000531 bronchus mucoepidermoid carcinoma MONDO:0003036 DOID:0050916 DOID:4531 mucoepidermoid carcinoma +MONDO:0000532 lung combined type small cell adenocarcinoma MONDO:0004970 DOID:0050917 DOID:299 adenocarcinoma +MONDO:0000534 trachea mucoepidermoid carcinoma MONDO:0001407 DOID:0050919 DOID:11920 tracheal cancer +MONDO:0000536 pharyngeal squamous cell carcinoma MONDO:0005096 DOID:0050921 DOID:1749 squamous cell carcinoma +MONDO:0000540 small intestinal neuroendocrine tumor G1 MONDO:0019496 DOID:0050925 DOID:169 neuroendocrine neoplasm +MONDO:0000541 jejunal adenocarcinoma MONDO:0004970 DOID:0050926 DOID:299 adenocarcinoma +MONDO:0000544 mucosal melanoma MONDO:0005105 DOID:0050929 DOID:1909 melanoma +MONDO:0000545 sublingual gland adenoid cystic carcinoma MONDO:0004667 DOID:0050930 DOID:8849 sublingual gland cancer +MONDO:0000552 breast lobular carcinoma MONDO:0004989 DOID:0050938 DOID:3459 breast carcinoma +MONDO:0000554 endocervical adenocarcinoma MONDO:0004970 DOID:0050940 DOID:299 adenocarcinoma +MONDO:0000596 paraphilic disorder MONDO:0000595 DOID:0060044 DOID:0060043 sexual and gender identity disorders +MONDO:0000608 familial juvenile hyperuricemic nephropathy MONDO:0005240 DOID:0060062 DOID:557 kidney disorder +MONDO:0000615 progesterone-receptor positive breast cancer MONDO:0007254 DOID:0060077 DOID:1612 breast cancer +MONDO:0000616 progesterone-receptor negative breast cancer MONDO:0007254 DOID:0060078 DOID:1612 breast cancer +MONDO:0000618 Her2-receptor negative breast cancer MONDO:0007254 DOID:0060080 DOID:1612 breast cancer +MONDO:0000620 breast benign neoplasm MONDO:0002657 DOID:0060082 DOID:3463 breast disorder +MONDO:0000624 benign female reproductive system neoplasm MONDO:0002263 DOID:0060086 DOID:229 female reproductive system disorder +MONDO:0000626 vestibular gland benign neoplasm MONDO:0000624 DOID:0060088 DOID:0060086 benign female reproductive system neoplasm +MONDO:0000628 central nervous system organ benign neoplasm MONDO:0002602 DOID:0060090 DOID:331 central nervous system disorder +MONDO:0000629 cardiovascular organ benign neoplasm MONDO:0004995 DOID:0060091 DOID:1287 cardiovascular disorder +MONDO:0000631 bone benign neoplasm MONDO:0005381 DOID:0060094 DOID:0080001 bone disorder +MONDO:0000632 uterine benign neoplasm MONDO:0002654 DOID:0060095 DOID:345 uterine disorder +MONDO:0000643 vulvar benign neoplasm MONDO:0002187 DOID:0060109 DOID:2059 vulvar disease +MONDO:0000644 cervical benign neoplasm MONDO:0002256 DOID:0060110 DOID:2253 cervix disorder +MONDO:0000645 fallopian tube benign neoplasm MONDO:0002156 DOID:0060111 DOID:1962 fallopian tube disorder +MONDO:0000646 ovarian benign neoplasm MONDO:0005558 DOID:0060112 DOID:1100 ovarian disorder +MONDO:0000647 benign vaginal neoplasm MONDO:0001433 DOID:0060114 DOID:121 vaginal disorder +MONDO:0000648 nervous system benign neoplasm MONDO:0005071 DOID:0060115 DOID:863 nervous system disorder +MONDO:0000664 apperceptive agnosia MONDO:0005638 DOID:0060134 DOID:4090 agnosia +MONDO:0000666 associative visual agnosia MONDO:0005638 DOID:0060136 DOID:4090 agnosia +MONDO:0000669 color agnosia MONDO:0005638 DOID:0060139 DOID:4090 agnosia +MONDO:0000670 cortical deafness MONDO:0005638 DOID:0060140 DOID:4090 agnosia +MONDO:0000672 form agnosia MONDO:0005638 DOID:0060142 DOID:4090 agnosia +MONDO:0000684 verbal auditory agnosia MONDO:0005638 DOID:0060154 DOID:4090 agnosia +MONDO:0000700 familial hemiplegic migraine MONDO:0005475 DOID:0060178 DOID:10024 migraine with aura +MONDO:0000705 Clostridium difficile colitis MONDO:0005292 DOID:0060185 DOID:0060180 colitis +MONDO:0000708 Crohn jejunoileitis MONDO:0005011 DOID:0060188 DOID:8778 Crohn disease +MONDO:0000709 Crohn ileitis MONDO:0005011 DOID:0060189 DOID:8778 Crohn disease +MONDO:0000710 gastroduodenal Crohn disease MONDO:0005011 DOID:0060191 DOID:8778 Crohn disease +MONDO:0000722 non-syndromic synpolydactyly MONDO:0021002 DOID:0060242 DOID:11193 syndactyly +MONDO:0000727 scapuloperoneal myopathy MONDO:0020121 DOID:0060253 DOID:9884 muscular dystrophy +MONDO:0000732 combined oxidative phosphorylation deficiency MONDO:0004069 DOID:0060286 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0000736 dyschromatosis universalis hereditaria MONDO:0019288 DOID:0060304 DOID:10123 skin pigmentation disorder +MONDO:0000757 glucocorticoid-induced osteoporosis MONDO:0005298 DOID:0060343 DOID:11476 osteoporosis +MONDO:0000813 cardiac tuberculosis MONDO:0018076 DOID:0060570 DOID:399 tuberculosis +MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0005062 DOID:0060592 DOID:0060058 lymphoma +MONDO:0000840 dysbaric osteonecrosis MONDO:0005380 DOID:0080018 DOID:0080008 osteonecrosis +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:0005062 DOID:0080146 DOID:0060058 lymphoma +MONDO:0000873 lymphoblastic lymphoma MONDO:0005062 DOID:0080147 DOID:0060058 lymphoma +MONDO:0000879 cutaneous candidiasis MONDO:0005093 DOID:0080161 DOID:37 skin disorder +MONDO:0000890 Zika virus congenital syndrome MONDO:0002254 DOID:0080180 DOID:225 syndromic disease +MONDO:0000892 colon medullary carcinoma MONDO:0002032 DOID:0080183 DOID:1520 colon carcinoma +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0005559 DOID:0090003 DOID:1289 neurodegenerative disease +MONDO:0000903 myoclonus-dystonia syndrome MONDO:0003441 DOID:0090033 DOID:543 dystonic disorder +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO:0016587 DOID:0110084 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0000909 Bartter disease type 4B MONDO:0015231 DOID:0110146 DOID:445 Bartter syndrome +MONDO:0000916 intestinal infectious disease MONDO:0005020 DOID:100 DOID:5295 intestinal disorder +MONDO:0000919 ampulla of vater cancer MONDO:0003059 DOID:10020 DOID:4606 bile duct cancer +MONDO:0000920 duodenum cancer MONDO:0002866 DOID:10021 DOID:4072 duodenal disorder +MONDO:0000921 ampulla of vater neoplasm MONDO:0002887 DOID:10022 DOID:4138 bile duct disorder +MONDO:0000921 ampulla of vater neoplasm MONDO:0005304 DOID:10022 DOID:0050625 biliary tract neoplasm +MONDO:0000925 hyperlucent lung MONDO:0005275 DOID:10032 DOID:850 lung disorder +MONDO:0000936 syphilitic meningitis MONDO:0006670 DOID:10073 DOID:9470 bacterial meningitis +MONDO:0000937 syphilitic encephalitis MONDO:0019956 DOID:10081 DOID:9588 encephalitis +MONDO:0000938 gastric leiomyoma MONDO:0000385 DOID:10087 DOID:0050624 benign digestive system neoplasm +MONDO:0000939 intracranial abscess MONDO:0002602 DOID:10095 DOID:331 central nervous system disorder +MONDO:0000944 cerebral artery occlusion MONDO:0011057 DOID:10127 DOID:6713 cerebrovascular disorder +MONDO:0000951 thymus lymphoma MONDO:0005062 DOID:10146 DOID:0060058 lymphoma +MONDO:0000952 cancer of long bone of lower limb MONDO:0002129 DOID:10149 DOID:184 bone cancer +MONDO:0000953 cancer of short bone of lower limb MONDO:0002129 DOID:10151 DOID:184 bone cancer +MONDO:0000958 neuroretinitis MONDO:0005328 DOID:10176 DOID:5614 eye disorder +MONDO:0000963 esophageal lipoma MONDO:0000385 DOID:10187 DOID:0050624 benign digestive system neoplasm +MONDO:0000963 esophageal lipoma MONDO:0003749 DOID:10187 DOID:6050 esophageal disorder +MONDO:0000964 skin lipoma MONDO:0002531 DOID:10188 DOID:3165 skin neoplasm +MONDO:0000969 pleural lipoma MONDO:0000382 DOID:10195 DOID:0050621 respiratory system benign neoplasm +MONDO:0000969 pleural lipoma MONDO:0002037 DOID:10195 DOID:1532 pleural disorder +MONDO:0000971 chest wall lipoma MONDO:0000634 DOID:10200 DOID:0060097 thoracic benign neoplasm +MONDO:0000974 axillary lipoma MONDO:0000634 DOID:10205 DOID:0060097 thoracic benign neoplasm +MONDO:0000978 extrahepatic bile duct lipoma MONDO:0002887 DOID:10209 DOID:4138 bile duct disorder +MONDO:0000978 extrahepatic bile duct lipoma MONDO:0005106 DOID:10209 DOID:3315 lipoma +MONDO:0000978 extrahepatic bile duct lipoma MONDO:0005304 DOID:10209 DOID:0050625 biliary tract neoplasm +MONDO:0001005 kaolin pneumoconiosis MONDO:0015926 DOID:10331 DOID:10316 pneumoconiosis +MONDO:0001036 hypopyon MONDO:0004773 DOID:10443 DOID:9383 iridocyclitis +MONDO:0001052 chronic fungal otitis externa MONDO:0002041 DOID:10519 DOID:1564 fungal infectious disease +MONDO:0001053 acute infection of pinna MONDO:0004795 DOID:10520 DOID:9463 otitis externa +MONDO:0001055 conjunctival pterygium MONDO:0006170 DOID:10526 DOID:4251 conjunctival disorder +MONDO:0001056 gastric cancer MONDO:0004298 DOID:10534 DOID:76 stomach disorder +MONDO:0001059 gastric lymphoma MONDO:0005062 DOID:10540 DOID:0060058 lymphoma +MONDO:0001065 supine hypotensive syndrome MONDO:0005385 DOID:10556 DOID:178 vascular disorder +MONDO:0001078 tropical sprue MONDO:0005020 DOID:10607 DOID:5295 intestinal disorder +MONDO:0001082 lymph node cancer MONDO:0004928 DOID:10619 DOID:9942 lymph node disorder +MONDO:0001091 lipoma of colon MONDO:0003409 DOID:10655 DOID:5353 colonic disorder +MONDO:0001092 colon leiomyoma MONDO:0003409 DOID:10656 DOID:5353 colonic disorder +MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0003098 DOID:10661 DOID:4691 mediastinal neural neoplasm +MONDO:0001119 premature menopause MONDO:0001889 DOID:10787 DOID:1414 ovarian dysfunction +MONDO:0001125 acute gonococcal epididymo-orchitis MONDO:0004778 DOID:10802 DOID:9401 epididymo-orchitis +MONDO:0001128 nasal cavity cancer MONDO:0002232 DOID:10811 DOID:2163 nasal cavity disorder +MONDO:0001136 chylocele of tunica vaginalis MONDO:0003150 DOID:10835 DOID:48 male reproductive system disorder +MONDO:0001137 Murray valley encephalitis MONDO:0005108 DOID:10842 DOID:934 viral infectious disease +MONDO:0001170 hemiplegia MONDO:0002602 DOID:10969 DOID:331 central nervous system disorder +MONDO:0001184 chronic rapidly progressive glomerulonephritis MONDO:0002462 DOID:11036 DOID:2921 glomerulonephritis +MONDO:0001187 urinary bladder cancer MONDO:0006026 DOID:11054 DOID:365 urinary bladder disorder +MONDO:0001188 esophagus lymphoma MONDO:0005062 DOID:1106 DOID:0060058 lymphoma +MONDO:0001203 prolapse of lacrimal gland MONDO:0001854 DOID:11134 DOID:1400 lacrimal apparatus disorder +MONDO:0001204 esophagus sarcoma MONDO:0005089 DOID:1114 DOID:1115 sarcoma +MONDO:0001207 neonatal respiratory failure MONDO:0021113 DOID:11161 DOID:11162 respiratory failure +MONDO:0001213 serous glue ear MONDO:0001212 DOID:11181 DOID:11180 non-suppurative otitis media +MONDO:0001221 esophageal varices MONDO:0004634 DOID:112 DOID:866 vein disorder +MONDO:0001227 chronic tympanitis MONDO:0003648 DOID:11217 DOID:5782 tympanic membrane disorder +MONDO:0001235 appendix cancer MONDO:0005814 DOID:11239 DOID:10155 intestinal cancer +MONDO:0001235 appendix cancer MONDO:0056798 DOID:11239 DOID:60000 disorder of appendix +MONDO:0001236 appendiceal neoplasm MONDO:0021118 DOID:11240 DOID:4610 intestinal neoplasm +MONDO:0001237 appendix lymphoma MONDO:0005062 DOID:11241 DOID:0060058 lymphoma +MONDO:0001244 vitamin K deficiency hemorrhagic disease MONDO:0006873 DOID:11249 DOID:5113 nutritional deficiency disease +MONDO:0001249 trachoma MONDO:0000315 DOID:11265 DOID:0050339 commensal bacterial infectious disease +MONDO:0001258 vertebral artery occlusion MONDO:0000473 DOID:11299 DOID:0050828 arterial disorder +MONDO:0001260 cercarial dermatitis MONDO:0005093 DOID:11302 DOID:37 skin disorder +MONDO:0001262 African histoplasmosis MONDO:0018312 DOID:11315 DOID:1731 histoplasmosis +MONDO:0001266 erysipelas MONDO:0002406 DOID:11330 DOID:2723 dermatitis +MONDO:0001275 spinal meningioma MONDO:0016642 DOID:1138 DOID:3565 meningioma +MONDO:0001290 allergic cutaneous vasculitis MONDO:0005271 DOID:11450 DOID:1205 allergic disease +MONDO:0001313 acute allergic serous otitis media MONDO:0005271 DOID:11558 DOID:1205 allergic disease +MONDO:0001322 pericardium cancer MONDO:0000474 DOID:116 DOID:0050829 pericardium disorder +MONDO:0001323 infant gynecomastia MONDO:0002657 DOID:11603 DOID:3463 breast disorder +MONDO:0001325 penile cancer MONDO:0002036 DOID:11615 DOID:1529 penile disorder +MONDO:0001340 heart cancer MONDO:0005267 DOID:117 DOID:114 heart disorder +MONDO:0001341 selective IgA deficiency disease MONDO:0002211 DOID:0060025 DOID:2115 B cell deficiency +MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0020121 DOID:11727 DOID:9884 muscular dystrophy +MONDO:0001350 parametrium malignant neoplasm MONDO:0001351 DOID:11746 DOID:11747 uterine adnexa cancer +MONDO:0001356 iron deficiency anemia MONDO:0001245 DOID:11758 DOID:11252 microcytic anemia +MONDO:0001365 necrosis of ear ossicle MONDO:0002409 DOID:11783 DOID:2742 auditory system disorder +MONDO:0001367 chronic congestive splenomegaly MONDO:0002332 DOID:11787 DOID:2529 splenic disorder +MONDO:0001374 bladder sarcoma MONDO:0005089 DOID:11812 DOID:1115 sarcoma +MONDO:0001375 bladder trigone cancer MONDO:0001187 DOID:11813 DOID:11054 urinary bladder cancer +MONDO:0001379 ureteric orifice cancer MONDO:0001187 DOID:11818 DOID:11054 urinary bladder cancer +MONDO:0001386 visual epilepsy MONDO:0005027 DOID:11832 DOID:1826 epilepsy +MONDO:0001387 penile sarcoma MONDO:0005089 DOID:11838 DOID:1115 sarcoma +MONDO:0001398 ureter benign neoplasm MONDO:0001926 DOID:11885 DOID:1426 ureteral disorder +MONDO:0001402 vaginal cancer MONDO:0001433 DOID:119 DOID:121 vaginal disorder +MONDO:0001407 tracheal cancer MONDO:0002567 DOID:11920 DOID:3225 tracheal disorder +MONDO:0001416 female reproductive organ cancer MONDO:0002263 DOID:120 DOID:229 female reproductive system disorder +MONDO:0001418 trachea sarcoma MONDO:0005089 DOID:12002 DOID:1115 sarcoma +MONDO:0001449 lymphocytic choriomeningitis MONDO:0005108 DOID:12155 DOID:934 viral infectious disease +MONDO:0001461 tinea corporis MONDO:0005093 DOID:12179 DOID:37 skin disorder +MONDO:0001470 anal margin squamous cell carcinoma MONDO:0005096 DOID:12239 DOID:1749 squamous cell carcinoma +MONDO:0001516 spinal muscular atrophy MONDO:0020128 DOID:12377 DOID:231 motor neuron disorder +MONDO:0001528 vulva cancer MONDO:0002187 DOID:1245 DOID:2059 vulvar disease +MONDO:0001530 secondary hyperparathyroidism of renal origin MONDO:0005240 DOID:12465 DOID:557 kidney disorder +MONDO:0001532 capillariasis MONDO:0004664 DOID:12474 DOID:883 helminthiasis +MONDO:0001537 tuberculous epididymitis MONDO:0006002 DOID:1251 DOID:2149 urogenital tuberculosis +MONDO:0001568 mixed receptive-expressive language disorder MONDO:0002182 DOID:12685 DOID:2033 communication disorder +MONDO:0001572 leiomyoma MONDO:0005165 DOID:127 DOID:0060084 benign neoplasm +MONDO:0001577 respiratory syncytial virus infectious disease MONDO:0005108 DOID:1273 DOID:934 viral infectious disease +MONDO:0001590 quadriplegia MONDO:0002602 DOID:12835 DOID:331 central nervous system disorder +MONDO:0001593 rectal disorder MONDO:0005020 DOID:1285 DOID:5295 intestinal disorder +MONDO:0001618 balanoposthitis MONDO:0002036 DOID:13031 DOID:1529 penile disorder +MONDO:0001628 tinea unguium MONDO:0002884 DOID:13074 DOID:4123 nail disorder +MONDO:0001638 protein-deficiency anemia MONDO:0002280 DOID:13120 DOID:2355 anemia +MONDO:0001642 hordeolum externum MONDO:0004785 DOID:13134 DOID:9423 blepharitis +MONDO:0001644 acute proliferative glomerulonephritis MONDO:0002462 DOID:13138 DOID:2921 glomerulonephritis +MONDO:0001648 esophageal candidiasis MONDO:0003749 DOID:13146 DOID:6050 esophageal disorder +MONDO:0001657 brain cancer MONDO:0005560 DOID:1319 DOID:936 brain disorder +MONDO:0001672 bronchus cancer MONDO:0001358 DOID:1325 DOID:1176 bronchial disorder +MONDO:0001678 intestinal tuberculosis MONDO:0005020 DOID:13282 DOID:5295 intestinal disorder +MONDO:0001699 tinea manuum MONDO:0005093 DOID:13369 DOID:37 skin disorder +MONDO:0001702 labia majora carcinoma MONDO:0002898 DOID:13389 DOID:4159 skin cancer +MONDO:0001706 cerebral sarcoidosis MONDO:0019338 DOID:13403 DOID:11335 sarcoidosis +MONDO:0001708 pulmonary sarcoidosis MONDO:0005275 DOID:13406 DOID:850 lung disorder +MONDO:0001710 perforation of bile duct MONDO:0004868 DOID:13409 DOID:9741 biliary tract disorder +MONDO:0001712 alexia MONDO:0005638 DOID:13417 DOID:4090 agnosia +MONDO:0001714 bejel MONDO:0000314 DOID:13431 DOID:0050338 primary bacterial infectious disease +MONDO:0001715 basilar artery occlusion MONDO:0000473 DOID:13446 DOID:0050828 arterial disorder +MONDO:0001733 occlusion of tributary of retinal vein MONDO:0002089 DOID:13514 DOID:1729 retinal vascular occlusion +MONDO:0001734 tuberous sclerosis MONDO:0002254 DOID:13515 DOID:225 syndromic disease +MONDO:0001740 cornea squamous cell carcinoma MONDO:0005096 DOID:13538 DOID:1749 squamous cell carcinoma +MONDO:0001743 paranasal sinus lymphoma MONDO:0005062 DOID:1355 DOID:0060058 lymphoma +MONDO:0001750 non-renal secondary hyperparathyroidism MONDO:0001741 DOID:13575 DOID:13543 hyperparathyroidism +MONDO:0001758 paranasal sinus sarcoma MONDO:0005089 DOID:1362 DOID:1115 sarcoma +MONDO:0001769 acquired tear duct stenosis MONDO:0001854 DOID:13655 DOID:1400 lacrimal apparatus disorder +MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0000632 DOID:1371 DOID:0060095 uterine benign neoplasm +MONDO:0001783 endometrial stromal nodule MONDO:0000632 DOID:1373 DOID:0060095 uterine benign neoplasm +MONDO:0001790 spinal cord lipoma MONDO:0002545 DOID:13743 DOID:319 spinal cord disorder +MONDO:0001791 neonatal urinary tract infectious disease MONDO:0002118 DOID:1375 DOID:18 urinary system disorder +MONDO:0001794 Pthirus pubis infestation MONDO:0005093 DOID:13760 DOID:37 skin disorder +MONDO:0001795 plantar wart MONDO:0005108 DOID:13775 DOID:934 viral infectious disease +MONDO:0001802 acute tympanitis MONDO:0003648 DOID:13790 DOID:5782 tympanic membrane disorder +MONDO:0001824 polyneuropathy MONDO:0003620 DOID:1389 DOID:574 peripheral nervous system disorder +MONDO:0001827 white piedra MONDO:0024268 DOID:13902 DOID:0050133 superficial mycosis +MONDO:0001829 lumbosacral plexus lesion MONDO:0003620 DOID:13913 DOID:574 peripheral nervous system disorder +MONDO:0001833 lacrimal duct obstruction MONDO:0001854 DOID:13929 DOID:1400 lacrimal apparatus disorder +MONDO:0001838 acute gonococcal prostatitis MONDO:0005280 DOID:13943 DOID:14654 prostatitis +MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0000632 DOID:13958 DOID:0060095 uterine benign neoplasm +MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0001572 DOID:13958 DOID:127 leiomyoma +MONDO:0001852 small intestine lymphoma MONDO:0005062 DOID:13996 DOID:0060058 lymphoma +MONDO:0001869 paraurethral gland cancer MONDO:0001416 DOID:14059 DOID:120 female reproductive organ cancer +MONDO:0001876 renal artery atheroma MONDO:0005311 DOID:14092 DOID:1936 atherosclerosis +MONDO:0001878 acquired hypertrophic pyloric stenosis MONDO:0001561 DOID:14099 DOID:12639 pyloric stenosis +MONDO:0001879 anus cancer MONDO:0002519 DOID:14110 DOID:3128 anus disorder +MONDO:0001879 anus cancer MONDO:0005575 DOID:14110 DOID:5672 colorectal cancer +MONDO:0001888 anus lymphoma MONDO:0005062 DOID:14139 DOID:0060058 lymphoma +MONDO:0001892 spinal cord lymphoma MONDO:0003641 DOID:14150 DOID:5772 central nervous system hematopoietic neoplasm +MONDO:0001892 spinal cord lymphoma MONDO:0005062 DOID:14150 DOID:0060058 lymphoma +MONDO:0001893 spinal cord melanoma MONDO:0005105 DOID:14151 DOID:1909 melanoma +MONDO:0001894 spinal cord sarcoma MONDO:0005089 DOID:14152 DOID:1115 sarcoma +MONDO:0001895 acute retrobulbar neuritis MONDO:0005885 DOID:14155 DOID:1210 optic neuritis +MONDO:0001901 selective IgG subclass deficiency MONDO:0001342 DOID:14176 DOID:11702 dysgammaglobulinemia +MONDO:0001902 congenital agammaglobulinemia MONDO:0002211 DOID:14177 DOID:2115 B cell deficiency +MONDO:0001906 posterior dislocation of lens MONDO:0005328 DOID:14199 DOID:1242 eye disorder +MONDO:0001914 scleromalacia perforans MONDO:0001269 DOID:14230 DOID:11343 scleral disorder +MONDO:0001939 skin epithelioid hemangioma MONDO:0002531 DOID:14308 DOID:3165 skin neoplasm +MONDO:0001939 skin epithelioid hemangioma MONDO:0006500 DOID:14308 DOID:255 hemangioma +MONDO:0001969 mixed gonadal dysgenesis MONDO:0001967 DOID:14449 DOID:14447 gonadal dysgenesis +MONDO:0001993 seminal vesicle adenocarcinoma MONDO:0005836 DOID:14545 DOID:3856 male reproductive organ cancer +MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0005096 DOID:14547 DOID:1749 squamous cell carcinoma +MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type MONDO:0020066 DOID:14759 DOID:13359 Ehlers-Danlos syndrome +MONDO:0002025 psychiatric disorder MONDO:0000001 DOID:150 DOID:4 disease +MONDO:0002031 cecal disorder MONDO:0005020 DOID:1518 DOID:5295 intestinal disorder +MONDO:0002032 colon carcinoma MONDO:0004993 DOID:1520 DOID:305 carcinoma +MONDO:0002033 cecum cancer MONDO:0002031 DOID:1521 DOID:1518 cecal disorder +MONDO:0002033 cecum cancer MONDO:0005575 DOID:1521 DOID:5672 colorectal cancer +MONDO:0002034 cecum lymphoma MONDO:0005062 DOID:1522 DOID:0060058 lymphoma +MONDO:0002035 colon lymphoma MONDO:0005062 DOID:1523 DOID:0060058 lymphoma +MONDO:0002086 clear cell acanthoma MONDO:0002531 DOID:172 DOID:3165 skin neoplasm +MONDO:0002092 small intestine leiomyoma MONDO:0004251 DOID:1738 DOID:7505 small intestine neoplasm +MONDO:0002095 vascular cancer MONDO:0005385 DOID:175 DOID:178 vascular disorder +MONDO:0002100 cardiovascular cancer MONDO:0004995 DOID:176 DOID:1287 cardiovascular disorder +MONDO:0002108 thyroid cancer MONDO:0003240 DOID:1781 DOID:50 thyroid gland disorder +MONDO:0002109 pituitary cancer MONDO:0003381 DOID:1785 DOID:53 pituitary gland disorder +MONDO:0002114 pancreas lymphoma MONDO:0005062 DOID:1792 DOID:0060058 lymphoma +MONDO:0002117 pancreas sarcoma MONDO:0005089 DOID:1796 DOID:1115 sarcoma +MONDO:0002129 bone cancer MONDO:0005381 DOID:184 DOID:0080001 bone disorder +MONDO:0002131 jaw cancer MONDO:0002129 DOID:1862 DOID:184 bone cancer +MONDO:0002133 chronic rheumatic pericarditis MONDO:0005904 DOID:1869 DOID:1787 pericarditis +MONDO:0002138 allergic contact dermatitis of eyelid MONDO:0005271 DOID:1895 DOID:1205 allergic disease +MONDO:0002140 vagina sarcoma MONDO:0005089 DOID:1901 DOID:1115 sarcoma +MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0003363 DOID:1906 DOID:5274 malignant dermis tumor +MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0005089 DOID:1907 DOID:1115 sarcoma +MONDO:0002143 vaginal yolk sac tumor MONDO:0001402 DOID:1910 DOID:119 vaginal cancer +MONDO:0002149 reproductive system cancer MONDO:0005039 DOID:193 DOID:15 reproductive system disorder +MONDO:0002150 hypothalamic disorder MONDO:0005560 DOID:1931 DOID:936 brain disorder +MONDO:0002158 fallopian tube cancer MONDO:0002156 DOID:1964 DOID:1962 fallopian tube disorder +MONDO:0002163 thymus lipoma MONDO:0000627 DOID:1975 DOID:0060089 benign endocrine neoplasm +MONDO:0002163 thymus lipoma MONDO:0000630 DOID:1975 DOID:0060092 immune system organ benign neoplasm +MONDO:0002163 thymus lipoma MONDO:0003393 DOID:1975 DOID:533 thymus gland disorder +MONDO:0002165 rectal neoplasm MONDO:0021118 DOID:1984 DOID:4610 intestinal neoplasm +MONDO:0002166 rectum lymphoma MONDO:0005062 DOID:1988 DOID:0060058 lymphoma +MONDO:0002167 rectum malignant melanoma MONDO:0005105 DOID:1992 DOID:1909 melanoma +MONDO:0002169 rectum adenocarcinoma MONDO:0004970 DOID:1996 DOID:299 adenocarcinoma +MONDO:0002169 rectum adenocarcinoma MONDO:0006519 DOID:1996 DOID:1993 rectal cancer +MONDO:0002177 hyperinsulinism MONDO:0002356 DOID:2018 DOID:26 pancreas disorder +MONDO:0002178 placenta cancer MONDO:0005917 DOID:2021 DOID:780 placenta disorder +MONDO:0002204 transient arthritis MONDO:0006816 DOID:2092 DOID:381 arthropathy +MONDO:0002206 sweat gland cancer MONDO:0006615 DOID:2095 DOID:1383 sweat gland disorder +MONDO:0002214 brain germinoma MONDO:0005040 DOID:2127 DOID:2994 germ cell tumor +MONDO:0002217 central nervous system sarcoma MONDO:0005089 DOID:2133 DOID:1115 sarcoma +MONDO:0002225 ovarian sarcoma MONDO:0005089 DOID:2146 DOID:1115 sarcoma +MONDO:0002226 tuberculous oophoritis MONDO:0005558 DOID:2148 DOID:1100 ovarian disorder +MONDO:0002236 ocular cancer MONDO:0005328 DOID:2174 DOID:5614 eye disorder +MONDO:0002254 syndromic disease MONDO:0000001 DOID:225 DOID:4 disease +MONDO:0002260 hidradenitis MONDO:0006615 DOID:2282 DOID:1383 sweat gland disorder +MONDO:0002269 gastroenteritis MONDO:0004335 DOID:2326 DOID:77 digestive system disorder +MONDO:0002271 colon adenocarcinoma MONDO:0004970 DOID:234 DOID:299 adenocarcinoma +MONDO:0002278 benign colon neoplasm MONDO:0003409 DOID:235 DOID:5353 colonic disorder +MONDO:0002278 benign colon neoplasm MONDO:0021118 DOID:235 DOID:4610 intestinal neoplasm +MONDO:0002282 West Nile fever MONDO:0005108 DOID:2366 DOID:934 viral infectious disease +MONDO:0002285 pupil disorder MONDO:0005328 DOID:238 DOID:5614 eye disorder +MONDO:0002286 renal artery disease MONDO:0000473 DOID:2388 DOID:0050828 arterial disorder +MONDO:0002291 cutaneous granular cell tumor MONDO:0002531 DOID:2410 DOID:3165 skin neoplasm +MONDO:0002293 cutaneous ganglioneuroma MONDO:0002531 DOID:2425 DOID:3165 skin neoplasm +MONDO:0002298 cutaneous glomangioma MONDO:0002531 DOID:2435 DOID:3165 skin neoplasm +MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0005096 DOID:2441 DOID:1749 squamous cell carcinoma +MONDO:0002311 retinal vascular disorder MONDO:0005385 DOID:2462 DOID:178 vascular disorder +MONDO:0002318 trachea leiomyoma MONDO:0000382 DOID:248 DOID:0050621 respiratory system benign neoplasm +MONDO:0002318 trachea leiomyoma MONDO:0002567 DOID:248 DOID:3225 tracheal disorder +MONDO:0002323 cherry hemangioma MONDO:0002531 DOID:2495 DOID:3165 skin neoplasm +MONDO:0002328 intracranial hemangioma MONDO:0006500 DOID:2517 DOID:255 hemangioma +MONDO:0002341 granulomatous angiitis MONDO:0018882 DOID:2555 DOID:865 vasculitis +MONDO:0002343 splenic hemangioma MONDO:0002332 DOID:256 DOID:2529 splenic disorder +MONDO:0002352 larynx cancer MONDO:0004382 DOID:2596 DOID:786 laryngeal disorder +MONDO:0002354 benign laryngeal neoplasm MONDO:0004382 DOID:2598 DOID:786 laryngeal disorder +MONDO:0002355 glottis carcinoma MONDO:0004993 DOID:2599 DOID:305 carcinoma +MONDO:0002360 chondroma MONDO:0005165 DOID:2602 DOID:0060084 benign neoplasm +MONDO:0002363 papilloma MONDO:0005165 DOID:2615 DOID:0060084 benign neoplasm +MONDO:0002367 kidney cancer MONDO:0005240 DOID:263 DOID:557 kidney disorder +MONDO:0002368 papillary serous cystadenocarcinoma MONDO:0002512 DOID:2632 DOID:3112 papillary adenocarcinoma +MONDO:0002381 sweat gland neoplasm MONDO:0002531 DOID:2664 DOID:3165 skin neoplasm +MONDO:0002387 liver angiosarcoma MONDO:0002691 DOID:268 DOID:3571 liver cancer +MONDO:0002399 tenosynovial giant cell tumor, localized type MONDO:0000654 DOID:2701 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0002404 liver hemangioma MONDO:0006500 DOID:271 DOID:255 hemangioma +MONDO:0002408 hereditary hyperbilirubinemia MONDO:0019052 DOID:2741 DOID:655 inborn errors of metabolism +MONDO:0002414 gastric hemangioma MONDO:0000385 DOID:275 DOID:0050624 benign digestive system neoplasm +MONDO:0002414 gastric hemangioma MONDO:0004298 DOID:275 DOID:76 stomach disorder +MONDO:0002414 gastric hemangioma MONDO:0006500 DOID:275 DOID:255 hemangioma +MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0005096 DOID:2763 DOID:1749 squamous cell carcinoma +MONDO:0002422 adamantinoma MONDO:0002129 DOID:2776 DOID:184 bone cancer +MONDO:0002426 lung sarcoma MONDO:0005089 DOID:2784 DOID:1115 sarcoma +MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0001563 DOID:2814 DOID:12657 vestibulocochlear nerve disorder +MONDO:0002433 malignant cranial nerve neoplasm MONDO:0001406 DOID:2815 DOID:1192 peripheral nervous system neoplasm +MONDO:0002433 malignant cranial nerve neoplasm MONDO:0003569 DOID:2815 DOID:5656 cranial nerve neuropathy +MONDO:0002437 dehydration polycythemia MONDO:0002438 DOID:2833 DOID:2834 acquired polycythemia +MONDO:0002440 erythropoietin polycythemia MONDO:0002438 DOID:2839 DOID:2834 acquired polycythemia +MONDO:0002441 Jervell and Lange-Nielsen syndrome MONDO:0002442 DOID:2842 DOID:2843 long QT syndrome +MONDO:0002447 endometrial carcinoma MONDO:0004993 DOID:2871 DOID:305 carcinoma +MONDO:0002448 laryngeal sarcoma MONDO:0005089 DOID:2877 DOID:1115 sarcoma +MONDO:0002450 prostatic adenoma MONDO:0000625 DOID:2883 DOID:0060087 benign male reproductive system neoplasm +MONDO:0002450 prostatic adenoma MONDO:0003105 DOID:2883 DOID:47 prostate disorder +MONDO:0002450 prostatic adenoma MONDO:0005165 DOID:2883 DOID:0060084 benign neoplasm +MONDO:0002451 benign prostate phyllodes tumor MONDO:0000625 DOID:2885 DOID:0060087 benign male reproductive system neoplasm +MONDO:0002452 prostate leiomyoma MONDO:0000625 DOID:2887 DOID:0060087 benign male reproductive system neoplasm +MONDO:0002452 prostate leiomyoma MONDO:0003105 DOID:2887 DOID:47 prostate disorder +MONDO:0002463 lacrimal gland carcinoma MONDO:0004993 DOID:293 DOID:305 carcinoma +MONDO:0002466 eye carcinoma MONDO:0004993 DOID:295 DOID:305 carcinoma +MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002464 DOID:296 DOID:294 lacrimal gland cancer +MONDO:0002479 Sertoli-Leydig cell tumor MONDO:0006055 DOID:2997 DOID:192 sex cord-stromal tumor +MONDO:0002509 non-specific granulomatous orchitis MONDO:0002329 DOID:3089 DOID:2519 testicular disorder +MONDO:0002513 kidney benign neoplasm MONDO:0005240 DOID:3116 DOID:557 kidney disorder +MONDO:0002536 skin papilloma MONDO:0002531 DOID:3178 DOID:3165 skin neoplasm +MONDO:0002549 schwannoma of twelfth cranial nerve MONDO:0001810 DOID:3197 DOID:13814 hypoglossal nerve disorder +MONDO:0002562 demyelinating disease MONDO:0002602 DOID:3213 DOID:331 central nervous system disorder +MONDO:0002571 primary central nervous system lymphoma MONDO:0005062 DOID:3234 DOID:0060058 lymphoma +MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma MONDO:0003059 DOID:3254 DOID:4606 bile duct cancer +MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma MONDO:0005212 DOID:3254 DOID:3247 rhabdomyosarcoma +MONDO:0002582 subacute leukemia MONDO:0005059 DOID:3264 DOID:1240 leukemia +MONDO:0002586 thymus cancer MONDO:0003393 DOID:3277 DOID:533 thymus gland disorder +MONDO:0002594 monkeypox MONDO:0005108 DOID:3292 DOID:934 viral infectious disease +MONDO:0002598 germinoma MONDO:0005040 DOID:3304 DOID:2994 germ cell tumor +MONDO:0002625 Ewing sarcoma of bone MONDO:0002129 DOID:3368 DOID:184 bone cancer +MONDO:0002627 chondroblastic osteosarcoma MONDO:0009807 DOID:3372 DOID:3347 osteosarcoma +MONDO:0002632 metachronous osteosarcoma of the bone MONDO:0009807 DOID:3379 DOID:3347 osteosarcoma +MONDO:0002634 liposarcoma of bone MONDO:0002129 DOID:3381 DOID:184 bone cancer +MONDO:0002635 periodontal disorder MONDO:0006858 DOID:3388 DOID:403 mouth disorder +MONDO:0002646 viral laryngitis MONDO:0005108 DOID:3436 DOID:934 viral infectious disease +MONDO:0002650 scrotal carcinoma MONDO:0003319 DOID:3445 DOID:518 scrotum neoplasm +MONDO:0002652 anus adenocarcinoma MONDO:0004970 DOID:3447 DOID:299 adenocarcinoma +MONDO:0002658 iris cancer MONDO:0002289 DOID:3478 DOID:240 iris disorder +MONDO:0002659 uveal cancer MONDO:0002661 DOID:3479 DOID:3480 uveal disorder +MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0005496 DOID:3494 DOID:4897 bile duct carcinoma +MONDO:0002670 ampulla of vater adenocarcinoma MONDO:0004970 DOID:3502 DOID:299 adenocarcinoma +MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0005082 DOID:3504 DOID:2526 prostate adenocarcinoma +MONDO:0002676 adult fibrosarcoma MONDO:0005164 DOID:3516 DOID:3355 fibrosarcoma +MONDO:0002685 childhood choroid plexus carcinoma MONDO:0002681 DOID:3545 DOID:3540 choroid plexus cancer +MONDO:0002691 liver cancer MONDO:0002514 DOID:3571 DOID:0080355 hepatobiliary neoplasm +MONDO:0002691 liver cancer MONDO:0005154 DOID:3571 DOID:409 liver disorder +MONDO:0002698 testicular gonadoblastoma MONDO:0002329 DOID:3579 DOID:2519 testicular disorder +MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0006087 DOID:3607 DOID:3608 appendix adenocarcinoma +MONDO:0002707 breast mucinous carcinoma MONDO:0004988 DOID:3610 DOID:3458 breast adenocarcinoma +MONDO:0002714 central nervous system cancer MONDO:0002602 DOID:3620 DOID:331 central nervous system disorder +MONDO:0002715 uterine cancer MONDO:0002654 DOID:363 DOID:345 uterine disorder +MONDO:0002718 central nervous system teratoma MONDO:0003000 DOID:3640 DOID:4439 central nervous system germ cell tumor +MONDO:0002724 mast cell neoplasm MONDO:0002334 DOID:3664 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0002732 lung benign neoplasm MONDO:0005275 DOID:3683 DOID:850 lung disorder +MONDO:0002735 anal canal adenocarcinoma MONDO:0000405 DOID:3692 DOID:0050688 anal canal cancer +MONDO:0002735 anal canal adenocarcinoma MONDO:0004970 DOID:3692 DOID:299 adenocarcinoma +MONDO:0002736 ampulla of vater mucinous adenocarcinoma MONDO:0004957 DOID:3693 DOID:3030 mucinous adenocarcinoma +MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma MONDO:0003193 DOID:3698 DOID:4896 bile duct adenocarcinoma +MONDO:0002764 urethra squamous cell carcinoma MONDO:0004192 DOID:3750 DOID:734 urethra cancer +MONDO:0002779 central nervous system chondroma MONDO:0002360 DOID:3813 DOID:2602 chondroma +MONDO:0002805 hidradenoma MONDO:0002381 DOID:3896 DOID:2664 sweat gland neoplasm +MONDO:0002806 bronchogenic carcinoma MONDO:0004993 DOID:3904 DOID:305 carcinoma +MONDO:0002809 pancreatic cystadenoma MONDO:0002356 DOID:3918 DOID:26 pancreas disorder +MONDO:0002814 adrenal carcinoma MONDO:0004993 DOID:3950 DOID:305 carcinoma +MONDO:0002817 adrenal gland cancer MONDO:0005495 DOID:3953 DOID:9553 adrenal gland disorder +MONDO:0002829 bartholin gland carcinoma MONDO:0001528 DOID:60003 DOID:1245 vulva cancer +MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma MONDO:0004993 DOID:4003 DOID:305 carcinoma +MONDO:0002836 urethra transitional cell carcinoma MONDO:0004192 DOID:4013 DOID:734 urethra cancer +MONDO:0002836 urethra transitional cell carcinoma MONDO:0006474 DOID:4013 DOID:2671 transitional cell carcinoma +MONDO:0002850 central nervous system rhabdomyosarcoma MONDO:0002714 DOID:4048 DOID:3620 central nervous system cancer +MONDO:0002852 mediastinum sarcoma MONDO:0005089 DOID:4050 DOID:1115 sarcoma +MONDO:0002852 mediastinum sarcoma MONDO:0005843 DOID:4050 DOID:5559 mediastinal cancer +MONDO:0002854 prostate sarcoma MONDO:0005089 DOID:4054 DOID:1115 sarcoma +MONDO:0002856 gallbladder rhabdomyosarcoma MONDO:0005411 DOID:4057 DOID:3121 gallbladder cancer +MONDO:0002857 gallbladder sarcoma MONDO:0005089 DOID:4058 DOID:1115 sarcoma +MONDO:0002861 testis sarcoma MONDO:0005089 DOID:4062 DOID:1115 sarcoma +MONDO:0002862 bile duct sarcoma MONDO:0005089 DOID:4064 DOID:1115 sarcoma +MONDO:0002864 anus rhabdomyosarcoma MONDO:0001879 DOID:4066 DOID:14110 anus cancer +MONDO:0002864 anus rhabdomyosarcoma MONDO:0005212 DOID:4066 DOID:3247 rhabdomyosarcoma +MONDO:0002865 anus sarcoma MONDO:0005089 DOID:4067 DOID:1115 sarcoma +MONDO:0002866 duodenal disorder MONDO:0005020 DOID:4072 DOID:5295 intestinal disorder +MONDO:0002875 parasitic ectoparasitic infectious disease MONDO:0005135 DOID:4110 DOID:1398 parasitic infectious disease +MONDO:0002877 cervical carcinosarcoma MONDO:0002974 DOID:4112 DOID:4362 cervical cancer +MONDO:0002889 orbital cancer MONDO:0002129 DOID:4143 DOID:184 bone cancer +MONDO:0002898 skin cancer MONDO:0005093 DOID:4159 DOID:37 skin disorder +MONDO:0002911 brain stem glioma MONDO:0100342 DOID:4202 DOID:3070 malignant glioma +MONDO:0002926 clear cell sarcoma MONDO:0005089 DOID:4233 DOID:1115 sarcoma +MONDO:0002935 penis basal cell carcinoma MONDO:0006360 DOID:4277 DOID:3449 penile carcinoma +MONDO:0002936 scrotum basal cell carcinoma MONDO:0002650 DOID:4278 DOID:3445 scrotal carcinoma +MONDO:0002941 anal margin carcinoma MONDO:0002898 DOID:4284 DOID:4159 skin cancer +MONDO:0002943 external ear basal cell carcinoma MONDO:0002944 DOID:4287 DOID:4288 external ear carcinoma +MONDO:0002944 external ear carcinoma MONDO:0004993 DOID:4288 DOID:305 carcinoma +MONDO:0002955 vulva basal cell carcinoma MONDO:0005215 DOID:4301 DOID:1294 vulvar carcinoma +MONDO:0002965 parovarian cyst MONDO:0002263 DOID:4333 DOID:229 female reproductive system disorder +MONDO:0002969 ciliary body cancer MONDO:0002970 DOID:4352 DOID:4353 ciliary body disorder +MONDO:0002974 cervical cancer MONDO:0002256 DOID:4362 DOID:2253 cervix disorder +MONDO:0002993 pancreatic somatostatinoma MONDO:0005815 DOID:4432 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0002994 pancreatic delta cell neuroendocrine tumor MONDO:0005815 DOID:4433 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0002996 cavernous sinus meningioma MONDO:0002785 DOID:4435 DOID:3842 skull base neoplasm +MONDO:0002996 cavernous sinus meningioma MONDO:0016642 DOID:4435 DOID:3565 meningioma +MONDO:0003000 central nervous system germ cell tumor MONDO:0005040 DOID:4439 DOID:2994 germ cell tumor +MONDO:0003001 seminoma MONDO:0005040 DOID:4440 DOID:2994 germ cell tumor +MONDO:0003002 dysgerminoma MONDO:0005040 DOID:4441 DOID:2994 germ cell tumor +MONDO:0003003 cervical alveolar soft part sarcoma MONDO:0002974 DOID:4442 DOID:4362 cervical cancer +MONDO:0003007 childhood kidney cell carcinoma MONDO:0005086 DOID:4454 DOID:4450 renal cell carcinoma +MONDO:0003008 hereditary renal cell carcinoma MONDO:0005086 DOID:4455 DOID:4450 renal cell carcinoma +MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0005086 DOID:4463 DOID:4450 renal cell carcinoma +MONDO:0003012 sarcomatoid renal cell carcinoma MONDO:0005086 DOID:4473 DOID:4450 renal cell carcinoma +MONDO:0003023 aorta angiosarcoma MONDO:0005561 DOID:4510 DOID:520 aortic disorder +MONDO:0003026 gallbladder angiosarcoma MONDO:0005411 DOID:4513 DOID:3121 gallbladder cancer +MONDO:0003028 thyroid sarcoma MONDO:0005089 DOID:4515 DOID:1115 sarcoma +MONDO:0003035 ovarian angiosarcoma MONDO:0005089 DOID:4527 DOID:1115 sarcoma +MONDO:0003035 ovarian angiosarcoma MONDO:0008170 DOID:4527 DOID:2394 ovarian cancer +MONDO:0003036 mucoepidermoid carcinoma MONDO:0004993 DOID:4531 DOID:305 carcinoma +MONDO:0003046 anus neoplasm MONDO:0021118 DOID:4551 DOID:4610 intestinal neoplasm +MONDO:0003047 thymic large cell neuroendocrine carcinoma MONDO:0006451 DOID:4553 DOID:3284 thymic carcinoma +MONDO:0003051 non specific chronic endometritis MONDO:0000918 DOID:4560 DOID:1002 endometritis +MONDO:0003052 granulomatous endometritis MONDO:0000918 DOID:4561 DOID:1002 endometritis +MONDO:0003054 benign meningioma MONDO:0000628 DOID:4587 DOID:0060090 central nervous system organ benign neoplasm +MONDO:0003059 bile duct cancer MONDO:0002887 DOID:4606 DOID:4138 bile duct disorder +MONDO:0003060 biliary tract cancer MONDO:0002514 DOID:4607 DOID:0080355 hepatobiliary neoplasm +MONDO:0003061 benign muscle neoplasm MONDO:0003939 DOID:461 DOID:0080000 muscle tissue disorder +MONDO:0003072 retinal cancer MONDO:0005283 DOID:4645 DOID:5679 retinal disorder +MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0002586 DOID:4678 DOID:3277 thymus cancer +MONDO:0003088 intramuscular hemangioma MONDO:0006500 DOID:468 DOID:255 hemangioma +MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma MONDO:0003059 DOID:4681 DOID:4606 bile duct cancer +MONDO:0003092 lacrimal gland mucoepidermoid carcinoma MONDO:0002464 DOID:4685 DOID:294 lacrimal gland cancer +MONDO:0003093 mucoepidermoid esophageal carcinoma MONDO:0019086 DOID:4686 DOID:1107 carcinoma of esophagus +MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0002352 DOID:4688 DOID:2596 larynx cancer +MONDO:0003109 foramen magnum meningioma MONDO:0016642 DOID:4708 DOID:3565 meningioma +MONDO:0003110 skin hemangioma MONDO:0002531 DOID:471 DOID:3165 skin neoplasm +MONDO:0003113 extragonadal germ cell cancer MONDO:0005040 DOID:4717 DOID:2994 germ cell tumor +MONDO:0003115 subglottic hemangioma MONDO:0000933 DOID:472 DOID:10069 subglottis neoplasm +MONDO:0003154 hemangioma of peripheral nerve MONDO:0003620 DOID:482 DOID:574 peripheral nervous system disorder +MONDO:0003154 hemangioma of peripheral nerve MONDO:0006500 DOID:482 DOID:255 hemangioma +MONDO:0003169 diencephalic astrocytomas MONDO:0100342 DOID:4855 DOID:3070 malignant glioma +MONDO:0003171 pineal gland astrocytoma MONDO:0100342 DOID:4858 DOID:3070 malignant glioma +MONDO:0003177 prostate adenoid cystic carcinoma MONDO:0005159 DOID:4868 DOID:10286 prostate carcinoma +MONDO:0003180 cutaneous adenocystic carcinoma MONDO:0002656 DOID:4871 DOID:3451 skin carcinoma +MONDO:0003181 lung adenoid cystic carcinoma MONDO:0005138 DOID:4872 DOID:3905 lung carcinoma +MONDO:0003185 adenoid cystic breast carcinoma MONDO:0004989 DOID:4877 DOID:3459 breast carcinoma +MONDO:0003186 esophageal adenoid cystic carcinoma MONDO:0019086 DOID:4878 DOID:1107 carcinoma of esophagus +MONDO:0003187 Bartholin gland adenoid cystic carcinoma MONDO:0002829 DOID:4879 DOID:3999 bartholin gland carcinoma +MONDO:0003190 middle ear carcinoma MONDO:0004993 DOID:4893 DOID:305 carcinoma +MONDO:0003196 appendix carcinoma MONDO:0004993 DOID:4902 DOID:305 carcinoma +MONDO:0003197 granular cell carcinoma MONDO:0004993 DOID:4903 DOID:305 carcinoma +MONDO:0003199 anal carcinoma MONDO:0004993 DOID:4908 DOID:305 carcinoma +MONDO:0003200 urethra adenocarcinoma MONDO:0004192 DOID:4910 DOID:734 urethra cancer +MONDO:0003202 pituitary gland basophilic carcinoma MONDO:0004970 DOID:4915 DOID:299 adenocarcinoma +MONDO:0003205 renal pelvis adenocarcinoma MONDO:0004970 DOID:4918 DOID:299 adenocarcinoma +MONDO:0003208 breast secretory carcinoma MONDO:0004988 DOID:4922 DOID:3458 breast adenocarcinoma +MONDO:0003212 nasal cavity carcinoma MONDO:0004993 DOID:4931 DOID:305 carcinoma +MONDO:0003214 apocrine adenocarcinoma MONDO:0004970 DOID:4933 DOID:299 adenocarcinoma +MONDO:0003220 gallbladder carcinoma MONDO:0004993 DOID:4948 DOID:305 carcinoma +MONDO:0003231 acute nonparalytic poliomyelitis MONDO:0020128 DOID:4986 DOID:231 motor neuron disorder +MONDO:0003234 optic nerve astrocytoma MONDO:0100342 DOID:4991 DOID:3070 malignant glioma +MONDO:0003237 adenomyoma of uterine corpus MONDO:0000632 DOID:4994 DOID:0060095 uterine benign neoplasm +MONDO:0003254 cardiac granular cell neoplasm MONDO:0000629 DOID:5044 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0003265 adjustment disorder MONDO:0002025 DOID:507 DOID:150 psychiatric disorder +MONDO:0003275 middle ear cancer MONDO:0003276 DOID:5099 DOID:5100 middle ear disorder +MONDO:0003278 inner ear cancer MONDO:0002467 DOID:5102 DOID:2952 inner ear disorder +MONDO:0003284 mediastinum leiomyoma MONDO:0000634 DOID:5123 DOID:0060097 thoracic benign neoplasm +MONDO:0003286 extrahepatic bile duct leiomyoma MONDO:0001572 DOID:5125 DOID:127 leiomyoma +MONDO:0003286 extrahepatic bile duct leiomyoma MONDO:0002887 DOID:5125 DOID:4138 bile duct disorder +MONDO:0003286 extrahepatic bile duct leiomyoma MONDO:0005304 DOID:5125 DOID:0050625 biliary tract neoplasm +MONDO:0003292 anus leiomyoma MONDO:0001572 DOID:5134 DOID:127 leiomyoma +MONDO:0003292 anus leiomyoma MONDO:0003046 DOID:5134 DOID:4551 anus neoplasm +MONDO:0003294 pericardium leiomyoma MONDO:0000474 DOID:5137 DOID:0050829 pericardium disorder +MONDO:0003294 pericardium leiomyoma MONDO:0000629 DOID:5137 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0003294 pericardium leiomyoma MONDO:0000634 DOID:5137 DOID:0060097 thoracic benign neoplasm +MONDO:0003299 colorectal leiomyoma MONDO:0021118 DOID:5143 DOID:4610 intestinal neoplasm +MONDO:0003300 appendix leiomyoma MONDO:0000385 DOID:5146 DOID:0050624 benign digestive system neoplasm +MONDO:0003300 appendix leiomyoma MONDO:0001572 DOID:5146 DOID:127 leiomyoma +MONDO:0003300 appendix leiomyoma MONDO:0056798 DOID:5146 DOID:60000 disorder of appendix +MONDO:0003308 pleural mesothelioma MONDO:0002037 DOID:5157 DOID:1532 pleural disorder +MONDO:0003315 endometrium carcinoma in situ MONDO:0004647 DOID:5172 DOID:8719 in situ carcinoma +MONDO:0003332 malignant struma ovarii MONDO:0002372 DOID:5208 DOID:2641 ovarian monodermal and highly specialized teratoma +MONDO:0003336 acute necrotizing encephalitis MONDO:0019956 DOID:5222 DOID:9588 encephalitis +MONDO:0003337 acute hemorrhagic encephalitis MONDO:0019956 DOID:5224 DOID:9588 encephalitis +MONDO:0003341 subungual glomus tumor MONDO:0018327 DOID:5236 DOID:2431 glomus tumor +MONDO:0003349 central nervous system leiomyosarcoma MONDO:0003244 DOID:5254 DOID:502 central nervous system mesenchymal non-meningothelial tumor +MONDO:0003350 granular cell leiomyosarcoma MONDO:0005058 DOID:5258 DOID:1967 leiomyosarcoma +MONDO:0003358 anus leiomyosarcoma MONDO:0005058 DOID:5267 DOID:1967 leiomyosarcoma +MONDO:0003360 small intestine leiomyosarcoma MONDO:0000956 DOID:5271 DOID:10154 small intestine cancer +MONDO:0003364 gallbladder leiomyosarcoma MONDO:0005411 DOID:5275 DOID:3121 gallbladder cancer +MONDO:0003377 extrahepatic bile duct leiomyosarcoma MONDO:0005058 DOID:5293 DOID:1967 leiomyosarcoma +MONDO:0003401 central nervous system endodermal sinus tumor MONDO:0003000 DOID:5343 DOID:4439 central nervous system germ cell tumor +MONDO:0003409 colonic disorder MONDO:0005020 DOID:5353 DOID:5295 intestinal disorder +MONDO:0003413 hair follicle neoplasm MONDO:0002531 DOID:5375 DOID:3165 skin neoplasm +MONDO:0003414 skin pilomatrix carcinoma MONDO:0002656 DOID:5376 DOID:3451 skin carcinoma +MONDO:0003420 bile duct cystadenoma MONDO:0002887 DOID:5384 DOID:4138 bile duct disorder +MONDO:0003420 bile duct cystadenoma MONDO:0005304 DOID:5384 DOID:0050625 biliary tract neoplasm +MONDO:0003423 middle ear adenoma MONDO:0003276 DOID:5387 DOID:5100 middle ear disorder +MONDO:0003423 middle ear adenoma MONDO:0005165 DOID:5387 DOID:0060084 benign neoplasm +MONDO:0003427 bronchus adenoma MONDO:0004972 DOID:5391 DOID:657 adenoma +MONDO:0003428 brain hemangioma MONDO:0000628 DOID:5393 DOID:0060090 central nervous system organ benign neoplasm +MONDO:0003428 brain hemangioma MONDO:0006500 DOID:5393 DOID:255 hemangioma +MONDO:0003439 urinary bladder villous adenoma MONDO:0004972 DOID:5427 DOID:657 adenoma +MONDO:0003441 dystonic disorder MONDO:0005395 DOID:543 DOID:480 movement disorder +MONDO:0003450 eccrine papillary adenoma MONDO:0004972 DOID:5446 DOID:657 adenoma +MONDO:0003453 conjunctival intraepithelial neoplasm MONDO:0006170 DOID:5465 DOID:4251 conjunctival disorder +MONDO:0003454 conjunctival cancer MONDO:0006170 DOID:5467 DOID:4251 conjunctival disorder +MONDO:0003455 bile duct papillary neoplasm MONDO:0002363 DOID:5468 DOID:2615 papilloma +MONDO:0003455 bile duct papillary neoplasm MONDO:0005304 DOID:5468 DOID:0050625 biliary tract neoplasm +MONDO:0003458 uterine corpus adenofibroma MONDO:0000632 DOID:5475 DOID:0060095 uterine benign neoplasm +MONDO:0003461 fallopian tube serous adenofibroma MONDO:0006071 DOID:5478 DOID:2683 adenofibroma +MONDO:0003466 spindle cell synovial sarcoma MONDO:0010434 DOID:5487 DOID:5485 synovial sarcoma +MONDO:0003469 epithelioid cell synovial sarcoma MONDO:0010434 DOID:5494 DOID:5485 synovial sarcoma +MONDO:0003473 spinal cord ependymoma MONDO:0002542 DOID:5503 DOID:3185 spinal cord glioma +MONDO:0003490 ampulla of vater squamous cell carcinoma MONDO:0005096 DOID:5527 DOID:1749 squamous cell carcinoma +MONDO:0003492 lacrimal gland squamous cell carcinoma MONDO:0005096 DOID:5529 DOID:1749 squamous cell carcinoma +MONDO:0003494 ovarian squamous cell carcinoma MONDO:0008170 DOID:5531 DOID:2394 ovarian cancer +MONDO:0003500 squamous cell bile duct carcinoma MONDO:0005096 DOID:5537 DOID:1749 squamous cell carcinoma +MONDO:0003501 external ear squamous cell carcinoma MONDO:0005096 DOID:5538 DOID:1749 squamous cell carcinoma +MONDO:0003504 anal canal neuroendocrine neoplasm MONDO:0003046 DOID:5545 DOID:4551 anus neoplasm +MONDO:0003505 femoral cancer MONDO:0002129 DOID:5546 DOID:184 bone cancer +MONDO:0003506 pulmonary artery choriocarcinoma MONDO:0002095 DOID:5547 DOID:175 vascular cancer +MONDO:0003523 gastrin-producing neuroendocrine tumor MONDO:0019496 DOID:5577 DOID:169 neuroendocrine neoplasm +MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0005815 DOID:5580 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0003532 breast papillary carcinoma MONDO:0004989 DOID:5592 DOID:3459 breast carcinoma +MONDO:0003544 spinal cord cancer MONDO:0002545 DOID:5612 DOID:319 spinal cord disorder +MONDO:0003548 adenosquamous breast carcinoma MONDO:0005096 DOID:5623 DOID:1749 squamous cell carcinoma +MONDO:0003548 adenosquamous breast carcinoma MONDO:0007254 DOID:5623 DOID:1612 breast cancer +MONDO:0003549 adenosquamous bile duct carcinoma MONDO:0003059 DOID:5624 DOID:4606 bile duct cancer +MONDO:0003549 adenosquamous bile duct carcinoma MONDO:0005096 DOID:5624 DOID:1749 squamous cell carcinoma +MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0005096 DOID:5625 DOID:1749 squamous cell carcinoma +MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0007576 DOID:5625 DOID:5041 esophageal cancer +MONDO:0003551 thymic adenosquamous carcinoma MONDO:0002586 DOID:5626 DOID:3277 thymus cancer +MONDO:0003551 thymic adenosquamous carcinoma MONDO:0005096 DOID:5626 DOID:1749 squamous cell carcinoma +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0000919 DOID:5628 DOID:10020 ampulla of vater cancer +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0005096 DOID:5628 DOID:1749 squamous cell carcinoma +MONDO:0003554 adenosquamous colon carcinoma MONDO:0005096 DOID:5629 DOID:1749 squamous cell carcinoma +MONDO:0003554 adenosquamous colon carcinoma MONDO:0021063 DOID:5629 DOID:219 malignant colon neoplasm +MONDO:0003555 Bartholin gland adenosquamous carcinoma MONDO:0002829 DOID:5630 DOID:3999 bartholin gland carcinoma +MONDO:0003556 endometrial adenosquamous carcinoma MONDO:0005096 DOID:5631 DOID:1749 squamous cell carcinoma +MONDO:0003556 endometrial adenosquamous carcinoma MONDO:0011962 DOID:5631 DOID:1380 endometrial cancer +MONDO:0003558 adenosquamous prostate carcinoma MONDO:0005096 DOID:5634 DOID:1749 squamous cell carcinoma +MONDO:0003558 adenosquamous prostate carcinoma MONDO:0008315 DOID:5634 DOID:10283 prostate cancer +MONDO:0003565 urethral villous adenoma MONDO:0004972 DOID:5643 DOID:657 adenoma +MONDO:0003572 nasopharyngeal type undifferentiated carcinoma MONDO:0004993 DOID:5660 DOID:305 carcinoma +MONDO:0003574 external ear cancer MONDO:0002776 DOID:5665 DOID:379 external ear disorder +MONDO:0003578 extragonadal nonseminomatous germ cell tumor MONDO:0005040 DOID:5677 DOID:2994 germ cell tumor +MONDO:0003581 ovarian embryonal carcinoma MONDO:0008170 DOID:5681 DOID:2394 ovarian cancer +MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0002254 DOID:5683 DOID:225 syndromic disease +MONDO:0003586 esophagus liposarcoma MONDO:0007576 DOID:5694 DOID:5041 esophageal cancer +MONDO:0003588 larynx liposarcoma MONDO:0002352 DOID:5696 DOID:2596 larynx cancer +MONDO:0003589 liposarcoma of the ovary MONDO:0005089 DOID:5697 DOID:1115 sarcoma +MONDO:0003589 liposarcoma of the ovary MONDO:0008170 DOID:5697 DOID:2394 ovarian cancer +MONDO:0003591 kidney liposarcoma MONDO:0002367 DOID:5699 DOID:263 kidney cancer +MONDO:0003599 vulvar liposarcoma MONDO:0001528 DOID:5711 DOID:1245 vulva cancer +MONDO:0003599 vulvar liposarcoma MONDO:0005089 DOID:5711 DOID:1115 sarcoma +MONDO:0003612 uterine ligament cancer MONDO:0002715 DOID:5727 DOID:363 uterine cancer +MONDO:0003615 nerve compression syndrome MONDO:0003620 DOID:573 DOID:574 peripheral nervous system disorder +MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor MONDO:0005815 DOID:5741 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0003624 acinic cell breast carcinoma MONDO:0004988 DOID:5743 DOID:3458 breast adenocarcinoma +MONDO:0003635 sebaceous breast carcinoma MONDO:0004989 DOID:5760 DOID:3459 breast carcinoma +MONDO:0003636 vulvar sebaceous carcinoma MONDO:0005215 DOID:5761 DOID:1294 vulvar carcinoma +MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0002334 DOID:5772 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0003644 cavernous hemangioma of colon MONDO:0003409 DOID:5775 DOID:5353 colonic disorder +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0019496 DOID:5777 DOID:169 neuroendocrine neoplasm +MONDO:0003655 cerebral lymphoma MONDO:0003641 DOID:5815 DOID:5772 central nervous system hematopoietic neoplasm +MONDO:0003655 cerebral lymphoma MONDO:0005062 DOID:5815 DOID:0060058 lymphoma +MONDO:0003669 testicular seminoma MONDO:0005040 DOID:5842 DOID:2994 germ cell tumor +MONDO:0003669 testicular seminoma MONDO:0005447 DOID:5842 DOID:2998 testicular cancer +MONDO:0003680 periosteal chondrosarcoma MONDO:0008977 DOID:5859 DOID:3371 chondrosarcoma +MONDO:0003680 periosteal chondrosarcoma MONDO:0008977 DOID:5866 DOID:3371 chondrosarcoma +MONDO:0003684 clear cell chondrosarcoma MONDO:0008977 DOID:5867 DOID:3371 chondrosarcoma +MONDO:0003687 endocardium cancer MONDO:0000470 DOID:5877 DOID:0050825 endocardium disorder +MONDO:0003698 penis verrucous carcinoma MONDO:0018352 DOID:5908 DOID:5518 squamous cell carcinoma of penis +MONDO:0003704 uterine corpus diffuse leiomyomatosis MONDO:0000632 DOID:5916 DOID:0060095 uterine benign neoplasm +MONDO:0003704 uterine corpus diffuse leiomyomatosis MONDO:0001572 DOID:5916 DOID:127 leiomyoma +MONDO:0003707 distal biliary tract carcinoma MONDO:0005496 DOID:5923 DOID:4897 bile duct carcinoma +MONDO:0003713 angiokeratoma circumscriptum MONDO:0002531 DOID:5949 DOID:3165 skin neoplasm +MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0005096 DOID:5957 DOID:1749 squamous cell carcinoma +MONDO:0003744 spindle cell intraocular melanoma MONDO:0006325 DOID:6037 DOID:1752 ocular melanoma +MONDO:0003745 choroid spindle cell melanoma MONDO:0005105 DOID:6041 DOID:1909 melanoma +MONDO:0003746 ciliary body spindle cell melanoma MONDO:0002969 DOID:6043 DOID:4352 ciliary body cancer +MONDO:0003746 ciliary body spindle cell melanoma MONDO:0005105 DOID:6043 DOID:1909 melanoma +MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0001757 DOID:6054 DOID:1361 frontal sinus neoplasm +MONDO:0003753 nasal vestibule squamous papilloma MONDO:0000382 DOID:6059 DOID:0050621 respiratory system benign neoplasm +MONDO:0003753 nasal vestibule squamous papilloma MONDO:0002363 DOID:6059 DOID:2615 papilloma +MONDO:0003757 paraplegia MONDO:0002602 DOID:607 DOID:331 central nervous system disorder +MONDO:0003775 lateral ventricle meningioma MONDO:0002682 DOID:6115 DOID:3541 cerebral ventricle cancer +MONDO:0003776 renal pelvis inverted papilloma MONDO:0002363 DOID:6118 DOID:2615 papilloma +MONDO:0003778 inborn error of immunity MONDO:0005046 DOID:612 DOID:2914 immune system disorder +MONDO:0003784 nasal cavity carcinoma in situ MONDO:0002232 DOID:6148 DOID:2163 nasal cavity disorder +MONDO:0003792 ovarian carcinosarcoma MONDO:0018364 DOID:6170 DOID:2151 malignant epithelial tumor of ovary +MONDO:0003800 conventional malignant hemangiopericytoma MONDO:0005094 DOID:6197 DOID:264 hemangiopericytoma +MONDO:0003801 corneal intraepithelial neoplasm MONDO:0000942 DOID:6198 DOID:10124 corneal disorder +MONDO:0003802 cornea cancer MONDO:0000942 DOID:6199 DOID:10124 corneal disorder +MONDO:0003809 malignant mediastinum hemangiopericytoma MONDO:0005094 DOID:6209 DOID:264 hemangiopericytoma +MONDO:0003812 ovarian endometrial cancer MONDO:0002229 DOID:6212 DOID:2152 ovarian epithelial tumor +MONDO:0003826 mediastinum seminoma MONDO:0005040 DOID:6249 DOID:2994 germ cell tumor +MONDO:0003826 mediastinum seminoma MONDO:0005843 DOID:6249 DOID:5559 mediastinal cancer +MONDO:0003827 transient hypogammaglobulinemia MONDO:0015977 DOID:625 DOID:2583 agammaglobulinemia +MONDO:0003835 gastric cardia adenocarcinoma MONDO:0001063 DOID:6271 DOID:10548 cardia cancer +MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0003604 DOID:6274 DOID:5716 functioning pituitary gland neoplasm +MONDO:0003839 ovarian mucinous adenocarcinofibroma MONDO:0003756 DOID:6278 DOID:6067 ovarian mucinous neoplasm +MONDO:0003841 heart lipoma MONDO:0000629 DOID:6285 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0003841 heart lipoma MONDO:0000634 DOID:6285 DOID:0060097 thoracic benign neoplasm +MONDO:0003841 heart lipoma MONDO:0005267 DOID:6285 DOID:114 heart disorder +MONDO:0003847 hereditary disease MONDO:0000001 DOID:630 DOID:4 disease +MONDO:0003853 Bartholin gland adenocarcinoma MONDO:0004970 DOID:6316 DOID:299 adenocarcinoma +MONDO:0003856 adult malignant hemangiopericytoma MONDO:0005094 DOID:6332 DOID:264 hemangiopericytoma +MONDO:0003858 anterior optic tract meningioma MONDO:0016642 DOID:6334 DOID:3565 meningioma +MONDO:0003859 bilateral meningioma of optic nerve MONDO:0016642 DOID:6335 DOID:3565 meningioma +MONDO:0003866 liver extraskeletal osteosarcoma MONDO:0002691 DOID:6370 DOID:3571 liver cancer +MONDO:0003874 ovarian serous surface papillary adenocarcinoma MONDO:0005140 DOID:6408 DOID:4001 ovarian carcinoma +MONDO:0003876 eyelid carcinoma MONDO:0003382 DOID:6425 DOID:530 eyelid disorder +MONDO:0003884 lipoma of the rectum MONDO:0002165 DOID:6459 DOID:1984 rectal neoplasm +MONDO:0003884 lipoma of the rectum MONDO:0005106 DOID:6459 DOID:3315 lipoma +MONDO:0003885 colorectal lipoma MONDO:0021118 DOID:6460 DOID:4610 intestinal neoplasm +MONDO:0003901 cerebellar hemangioblastoma MONDO:0002913 DOID:6500 DOID:4205 cerebellar neoplasm +MONDO:0003911 ciliary body mixed cell melanoma MONDO:0002969 DOID:6523 DOID:4352 ciliary body cancer +MONDO:0003922 ovarian clear cell malignant adenofibroma MONDO:0008170 DOID:6554 DOID:2394 ovarian cancer +MONDO:0003923 ethmoid sinus Schneiderian papilloma MONDO:0001764 DOID:6559 DOID:1364 ethmoidal sinus neoplasm +MONDO:0003924 adrenal cortex adenoma MONDO:0000627 DOID:656 DOID:0060089 benign endocrine neoplasm +MONDO:0003924 adrenal cortex adenoma MONDO:0005495 DOID:656 DOID:9553 adrenal gland disorder +MONDO:0003925 ethmoid sinus inverted papilloma MONDO:0001764 DOID:6562 DOID:1364 ethmoidal sinus neoplasm +MONDO:0003925 ethmoid sinus inverted papilloma MONDO:0002363 DOID:6562 DOID:2615 papilloma +MONDO:0003926 neurilemmoma of the pleura MONDO:0002037 DOID:6564 DOID:1532 pleural disorder +MONDO:0003934 breast apocrine carcinoma MONDO:0004988 DOID:6581 DOID:3458 breast adenocarcinoma +MONDO:0003936 invasive tubular breast carcinoma MONDO:0004988 DOID:6587 DOID:3458 breast adenocarcinoma +MONDO:0003951 scrotal hemangioma MONDO:0002531 DOID:663 DOID:3165 skin neoplasm +MONDO:0003951 scrotal hemangioma MONDO:0006500 DOID:663 DOID:255 hemangioma +MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0002714 DOID:6634 DOID:3620 central nervous system cancer +MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0005207 DOID:6634 DOID:3594 choriocarcinoma +MONDO:0003953 pediatric CNS choriocarcinoma MONDO:0005207 DOID:6639 DOID:3594 choriocarcinoma +MONDO:0003954 angiokeratoma of Fordyce MONDO:0002531 DOID:664 DOID:3165 skin neoplasm +MONDO:0003959 breast large cell neuroendocrine carcinoma MONDO:0004989 DOID:6657 DOID:3459 breast carcinoma +MONDO:0003970 gastric fundus carcinoma MONDO:0004993 DOID:6700 DOID:305 carcinoma +MONDO:0003975 Littre gland carcinoma MONDO:0004993 DOID:6721 DOID:305 carcinoma +MONDO:0003978 colon small cell neuroendocrine carcinoma MONDO:0004993 DOID:6727 DOID:305 carcinoma +MONDO:0003978 colon small cell neuroendocrine carcinoma MONDO:0021063 DOID:6727 DOID:219 malignant colon neoplasm +MONDO:0003985 chest wall lymphoma MONDO:0003274 DOID:6758 DOID:5093 thoracic cancer +MONDO:0003988 sternum lymphoma MONDO:0005062 DOID:6762 DOID:0060058 lymphoma +MONDO:0003989 polyembryoma of the ovary MONDO:0003408 DOID:6774 DOID:5351 ovarian primitive germ cell tumor +MONDO:0003990 malignant breast myoepithelioma MONDO:0004989 DOID:6776 DOID:3459 breast carcinoma +MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0001402 DOID:6788 DOID:119 vaginal cancer +MONDO:0003999 juvenile pilocytic astrocytoma MONDO:0016691 DOID:6811 DOID:4851 pilocytic astrocytoma +MONDO:0004005 rete ovarii adenoma MONDO:0005165 DOID:6837 DOID:0060084 benign neoplasm +MONDO:0004006 rete ovarii cystadenofibroma MONDO:0006071 DOID:6838 DOID:2683 adenofibroma +MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0005519 DOID:6844 DOID:4919 renal pelvis carcinoma +MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0006474 DOID:6844 DOID:2671 transitional cell carcinoma +MONDO:0004030 ureter transitional cell carcinoma MONDO:0006474 DOID:6888 DOID:2671 transitional cell carcinoma +MONDO:0004040 urinary bladder inverted papilloma MONDO:0000384 DOID:6932 DOID:0050623 bladder benign neoplasm +MONDO:0004040 urinary bladder inverted papilloma MONDO:0002363 DOID:6932 DOID:2615 papilloma +MONDO:0004042 urethra inverted papilloma MONDO:0002363 DOID:6934 DOID:2615 papilloma +MONDO:0004043 ureter inverted papilloma MONDO:0002363 DOID:6935 DOID:2615 papilloma +MONDO:0004053 bartholin gland squamous cell carcinoma MONDO:0005096 DOID:6961 DOID:1749 squamous cell carcinoma +MONDO:0004062 intermediate cell type uveal melanoma MONDO:0006325 DOID:6992 DOID:1752 ocular melanoma +MONDO:0004066 intermediate cell type ciliary body melanoma MONDO:0004062 DOID:6997 DOID:6992 intermediate cell type uveal melanoma +MONDO:0004067 gallbladder mucinous adenocarcinoma MONDO:0003220 DOID:6998 DOID:4948 gallbladder carcinoma +MONDO:0004069 inborn mitochondrial metabolism disorder MONDO:0019052 DOID:700 DOID:655 inborn errors of metabolism +MONDO:0004076 tendon sheath lipoma MONDO:0002528 DOID:7016 DOID:315 synovium neoplasm +MONDO:0004080 glottis squamous cell carcinoma MONDO:0005096 DOID:7031 DOID:1749 squamous cell carcinoma +MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma MONDO:0003193 DOID:7032 DOID:4896 bile duct adenocarcinoma +MONDO:0004085 choroid epithelioid cell melanoma MONDO:0002973 DOID:7041 DOID:4360 epithelioid cell melanoma +MONDO:0004086 ciliary body epithelioid cell melanoma MONDO:0002969 DOID:7042 DOID:4352 ciliary body cancer +MONDO:0004089 basaloid carcinoma of the penis MONDO:0018352 DOID:7047 DOID:5518 squamous cell carcinoma of penis +MONDO:0004091 skin basaloid carcinoma MONDO:0002898 DOID:7049 DOID:4159 skin cancer +MONDO:0004091 skin basaloid carcinoma MONDO:0005096 DOID:7049 DOID:1749 squamous cell carcinoma +MONDO:0004092 thymic basaloid carcinoma MONDO:0002586 DOID:7050 DOID:3277 thymus cancer +MONDO:0004092 thymic basaloid carcinoma MONDO:0004993 DOID:7050 DOID:305 carcinoma +MONDO:0004093 esophageal basaloid carcinoma MONDO:0005096 DOID:7051 DOID:1749 squamous cell carcinoma +MONDO:0004093 esophageal basaloid carcinoma MONDO:0007576 DOID:7051 DOID:5041 esophageal cancer +MONDO:0004096 spinal cord dermoid cyst MONDO:0002545 DOID:7071 DOID:319 spinal cord disorder +MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0001406 DOID:7077 DOID:1192 peripheral nervous system neoplasm +MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0005843 DOID:7077 DOID:5559 mediastinal cancer +MONDO:0004111 refractory hematologic cancer MONDO:0002334 DOID:712 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0004122 thymus small cell carcinoma MONDO:0006451 DOID:7142 DOID:3284 thymic carcinoma +MONDO:0004125 rectum leiomyoma MONDO:0001572 DOID:7160 DOID:127 leiomyoma +MONDO:0004125 rectum leiomyoma MONDO:0002165 DOID:7160 DOID:1984 rectal neoplasm +MONDO:0004132 anal canal squamous cell carcinoma MONDO:0000405 DOID:7177 DOID:0050688 anal canal cancer +MONDO:0004132 anal canal squamous cell carcinoma MONDO:0005096 DOID:7177 DOID:1749 squamous cell carcinoma +MONDO:0004135 subacute lymphocytic thyroiditis MONDO:0004126 DOID:7187 DOID:7166 thyroiditis +MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma MONDO:0004993 DOID:7221 DOID:305 carcinoma +MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma MONDO:0005411 DOID:7221 DOID:3121 gallbladder cancer +MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0000632 DOID:7242 DOID:0060095 uterine benign neoplasm +MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0001572 DOID:7242 DOID:127 leiomyoma +MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0005082 DOID:7246 DOID:2526 prostate adenocarcinoma +MONDO:0004173 adenocarcinoma of skene gland origin MONDO:0004993 DOID:7284 DOID:305 carcinoma +MONDO:0004177 benign urethral neoplasm MONDO:0004184 DOID:730 DOID:732 urethral disorder +MONDO:0004180 benign urinary system neoplasm MONDO:0002118 DOID:731 DOID:18 urinary system disorder +MONDO:0004188 iris spindle cell melanoma MONDO:0005105 DOID:7328 DOID:1909 melanoma +MONDO:0004192 urethra cancer MONDO:0004184 DOID:734 DOID:732 urethral disorder +MONDO:0004196 rectal sarcomatoid carcinoma MONDO:0006519 DOID:7356 DOID:1993 rectal cancer +MONDO:0004202 adrenal medulla carcinoma MONDO:0004993 DOID:7379 DOID:305 carcinoma +MONDO:0004206 pulmonary vein leiomyosarcoma MONDO:0002095 DOID:7388 DOID:175 vascular cancer +MONDO:0004207 pulmonary artery leiomyosarcoma MONDO:0002095 DOID:7389 DOID:175 vascular cancer +MONDO:0004208 superior vena cava leiomyosarcoma MONDO:0002095 DOID:7390 DOID:175 vascular cancer +MONDO:0004208 superior vena cava leiomyosarcoma MONDO:0004634 DOID:7390 DOID:866 vein disorder +MONDO:0004215 cutaneous anthrax MONDO:0005093 DOID:7426 DOID:37 skin disorder +MONDO:0004223 polyp of middle ear MONDO:0003276 DOID:7439 DOID:5100 middle ear disorder +MONDO:0004227 epididymal adenomatoid tumor MONDO:0000625 DOID:745 DOID:0060087 benign male reproductive system neoplasm +MONDO:0004276 ceruminoma MONDO:0003686 DOID:7549 DOID:5876 apocrine sweat gland neoplasm +MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0005215 DOID:7565 DOID:1294 vulvar carcinoma +MONDO:0004283 vulvar clear cell hidradenocarcinoma MONDO:0005215 DOID:7567 DOID:1294 vulvar carcinoma +MONDO:0004287 pancreatic foamy gland adenocarcinoma MONDO:0006047 DOID:7577 DOID:4074 pancreatic adenocarcinoma +MONDO:0004288 scirrhous breast carcinoma MONDO:0004989 DOID:7578 DOID:3459 breast carcinoma +MONDO:0004291 subglottis squamous cell carcinoma MONDO:0005096 DOID:7585 DOID:1749 squamous cell carcinoma +MONDO:0004293 supraglottis squamous cell carcinoma MONDO:0005096 DOID:7587 DOID:1749 squamous cell carcinoma +MONDO:0004308 meningeal sarcoma MONDO:0005089 DOID:7614 DOID:1115 sarcoma +MONDO:0004311 carcinoma of Cowper glands MONDO:0004993 DOID:7632 DOID:305 carcinoma +MONDO:0004312 suprasellar meningioma MONDO:0016642 DOID:7634 DOID:3565 meningioma +MONDO:0004326 sphenoid sinus inverted papilloma MONDO:0002363 DOID:7678 DOID:2615 papilloma +MONDO:0004326 sphenoid sinus inverted papilloma MONDO:0004047 DOID:7678 DOID:6947 sphenoidal sinus neoplasm +MONDO:0004327 sphenoid sinus Schneiderian papilloma MONDO:0004047 DOID:7679 DOID:6947 sphenoidal sinus neoplasm +MONDO:0004330 leptomeningeal sarcoma MONDO:0005089 DOID:7689 DOID:1115 sarcoma +MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor MONDO:0005815 DOID:7697 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO:0005815 DOID:7698 DOID:1799 pancreatic neuroendocrine neoplasm +MONDO:0004341 colloid carcinoma of the pancreas MONDO:0005192 DOID:7717 DOID:4905 exocrine pancreatic carcinoma +MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0005596 DOID:7729 DOID:3111 cystadenocarcinoma +MONDO:0004344 childhood malignant hemangiopericytoma MONDO:0005094 DOID:7731 DOID:264 hemangiopericytoma +MONDO:0004349 retina lymphoma MONDO:0005062 DOID:774 DOID:0060058 lymphoma +MONDO:0004364 choroid necrotic melanoma MONDO:0006700 DOID:7807 DOID:12759 choroid cancer +MONDO:0004379 female breast carcinoma MONDO:0007254 DOID:0050671 DOID:1612 breast cancer +MONDO:0004380 dendritic cell sarcoma MONDO:0006247 DOID:7849 DOID:5621 histiocytic and dendritic cell neoplasm +MONDO:0004384 maxillary sinus inverted papilloma MONDO:0002363 DOID:7868 DOID:2615 papilloma +MONDO:0004384 maxillary sinus inverted papilloma MONDO:0006850 DOID:7868 DOID:1358 maxillary sinus neoplasm +MONDO:0004385 adult xanthogranuloma MONDO:0015531 DOID:7875 DOID:4330 non-Langerhans cell histiocytosis +MONDO:0004394 maxillary sinus squamous cell carcinoma MONDO:0005096 DOID:7910 DOID:1749 squamous cell carcinoma +MONDO:0004412 malignant spiradenoma MONDO:0005506 DOID:7960 DOID:4921 eccrine sweat gland cancer +MONDO:0004420 breast malignant eccrine spiradenoma MONDO:0007254 DOID:7983 DOID:1612 breast cancer +MONDO:0004423 central nervous system extraskeletal osteosarcoma MONDO:0003244 DOID:7994 DOID:502 central nervous system mesenchymal non-meningothelial tumor +MONDO:0004428 alveoli adenoma MONDO:0004972 DOID:8003 DOID:657 adenoma +MONDO:0004432 mature pericardial teratoma MONDO:0000474 DOID:8012 DOID:0050829 pericardium disorder +MONDO:0004447 pituitary stalk meningioma MONDO:0002720 DOID:8058 DOID:3643 sella turcica neoplasm +MONDO:0004447 pituitary stalk meningioma MONDO:0016642 DOID:8058 DOID:3565 meningioma +MONDO:0004448 frontal sinus inverted papilloma MONDO:0001757 DOID:8060 DOID:1361 frontal sinus neoplasm +MONDO:0004448 frontal sinus inverted papilloma MONDO:0002363 DOID:8060 DOID:2615 papilloma +MONDO:0004457 maxillary sinus Schneiderian papilloma MONDO:0006850 DOID:8093 DOID:1358 maxillary sinus neoplasm +MONDO:0004471 bacterial arthritis MONDO:0005578 DOID:813 DOID:848 arthritic joint disease +MONDO:0004473 epiglottis cancer MONDO:0001724 DOID:8133 DOID:13476 supraglottis cancer +MONDO:0004474 gallbladder lymphoma MONDO:0005062 DOID:8135 DOID:0060058 lymphoma +MONDO:0004477 adrenal gland ganglioneuroblastoma MONDO:0002817 DOID:8140 DOID:3953 adrenal gland cancer +MONDO:0004484 gallbladder melanoma MONDO:0005105 DOID:8167 DOID:1909 melanoma +MONDO:0004491 uterine corpus choriocarcinoma MONDO:0005207 DOID:8188 DOID:3594 choriocarcinoma +MONDO:0004491 uterine corpus choriocarcinoma MONDO:0006003 DOID:8188 DOID:9460 uterine corpus cancer +MONDO:0004512 meningeal melanomatosis MONDO:0003222 DOID:8243 DOID:4955 central nervous system melanocytic neoplasm +MONDO:0004519 synovial angioma MONDO:0000654 DOID:8274 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0004533 perineural angioma MONDO:0006500 DOID:8331 DOID:255 hemangioma +MONDO:0004535 childhood choriocarcinoma of the ovary MONDO:0003507 DOID:8336 DOID:5550 choriocarcinoma of ovary +MONDO:0004539 aortic malignant tumor MONDO:0002095 DOID:8352 DOID:175 vascular cancer +MONDO:0004544 chordoid meningioma MONDO:0016642 DOID:8368 DOID:3565 meningioma +MONDO:0004551 Meckel diverticulitis MONDO:0004235 DOID:8408 DOID:7475 diverticulitis +MONDO:0004568 paralytic ileus MONDO:0004565 DOID:8442 DOID:8437 intestinal obstruction +MONDO:0004574 pyridoxine deficiency anemia MONDO:0006873 DOID:8455 DOID:5113 nutritional deficiency disease +MONDO:0004584 maple bark strippers' lung MONDO:0005275 DOID:8484 DOID:850 lung disorder +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0004952 DOID:8543 DOID:8567 Hodgkins lymphoma +MONDO:0004609 herpes simplex infectious disease MONDO:0005108 DOID:8566 DOID:934 viral infectious disease +MONDO:0004613 acute intestinal ischemia MONDO:0005020 DOID:8590 DOID:5295 intestinal disorder +MONDO:0004619 measles MONDO:0005108 DOID:8622 DOID:934 viral infectious disease +MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:0004952 DOID:8628 DOID:8567 Hodgkins lymphoma +MONDO:0004627 duodenitis MONDO:0005020 DOID:8643 DOID:5295 intestinal disorder +MONDO:0004628 gastroduodenitis MONDO:0004247 DOID:8644 DOID:750 peptic ulcer disease +MONDO:0004631 tongue cancer MONDO:0001165 DOID:8649 DOID:10944 tongue disorder +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0004952 DOID:8654 DOID:8567 Hodgkins lymphoma +MONDO:0004636 lip carcinoma in situ MONDO:0004748 DOID:8661 DOID:9297 lip disorder +MONDO:0004639 perinatal necrotizing enterocolitis MONDO:0004335 DOID:8677 DOID:77 digestive system disorder +MONDO:0004641 skin carcinoma in situ MONDO:0005093 DOID:8687 DOID:37 skin disorder +MONDO:0004642 tonsillar pillar cancer MONDO:0004608 DOID:8688 DOID:8557 oropharynx cancer +MONDO:0004644 subacute monocytic leukemia MONDO:0004600 DOID:8696 DOID:8527 monocytic leukemia +MONDO:0004651 smallpox MONDO:0005108 DOID:8736 DOID:934 viral infectious disease +MONDO:0004658 breast carcinoma in situ MONDO:0002657 DOID:8791 DOID:3463 breast disorder +MONDO:0004659 eye carcinoma in situ MONDO:0005328 DOID:8792 DOID:5614 eye disorder +MONDO:0004661 trachea carcinoma in situ MONDO:0002567 DOID:8802 DOID:3225 tracheal disorder +MONDO:0004661 trachea carcinoma in situ MONDO:0004647 DOID:8802 DOID:8719 in situ carcinoma +MONDO:0004663 colon carcinoma in situ MONDO:0003409 DOID:8826 DOID:5353 colonic disorder +MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma MONDO:0004952 DOID:8838 DOID:8567 Hodgkins lymphoma +MONDO:0004667 sublingual gland cancer MONDO:0004669 DOID:8849 DOID:8850 salivary gland cancer +MONDO:0004669 salivary gland cancer MONDO:0001142 DOID:8850 DOID:10854 salivary gland disorder +MONDO:0004671 penis carcinoma in situ MONDO:0002036 DOID:8872 DOID:1529 penile disorder +MONDO:0004671 penis carcinoma in situ MONDO:0004647 DOID:8872 DOID:8719 in situ carcinoma +MONDO:0004674 chorioretinitis MONDO:0005328 DOID:8886 DOID:5614 eye disorder +MONDO:0004678 dermatophytosis MONDO:0000254 DOID:8913 DOID:0050134 cutaneous mycosis +MONDO:0004684 plantar fibromatosis MONDO:0003900 DOID:8936 DOID:65 connective tissue disorder +MONDO:0004687 severe nonproliferative diabetic retinopathy MONDO:0005266 DOID:8946 DOID:8947 diabetic retinopathy +MONDO:0004690 tonsillar fossa cancer MONDO:0004608 DOID:8969 DOID:8557 oropharynx cancer +MONDO:0004695 liver lymphoma MONDO:0005062 DOID:901 DOID:0060058 lymphoma +MONDO:0004696 larynx carcinoma in situ MONDO:0004382 DOID:9011 DOID:786 laryngeal disorder +MONDO:0004698 intestine carcinoma in situ MONDO:0005020 DOID:9024 DOID:5295 intestinal disorder +MONDO:0004700 parotid gland cancer MONDO:0004669 DOID:9036 DOID:8850 salivary gland cancer +MONDO:0004700 parotid gland cancer MONDO:0005899 DOID:9036 DOID:10302 parotid disorder +MONDO:0004703 bladder carcinoma in situ MONDO:0006026 DOID:9053 DOID:365 urinary bladder disorder +MONDO:0004707 anal canal carcinoma in situ MONDO:0004647 DOID:9087 DOID:8719 in situ carcinoma +MONDO:0004708 esophagus carcinoma in situ MONDO:0003749 DOID:9095 DOID:6050 esophageal disorder +MONDO:0004710 uterus carcinoma in situ MONDO:0002654 DOID:9108 DOID:345 uterine disorder +MONDO:0004712 herpes simplex dermatitis MONDO:0005093 DOID:9123 DOID:37 skin disorder +MONDO:0004715 liver carcinoma in situ MONDO:0005154 DOID:9132 DOID:409 liver disorder +MONDO:0004716 stomach carcinoma in situ MONDO:0004298 DOID:9138 DOID:76 stomach disorder +MONDO:0004724 submandibular gland cancer MONDO:0001597 DOID:9173 DOID:12897 submandibular gland disorder +MONDO:0004724 submandibular gland cancer MONDO:0004669 DOID:9173 DOID:8850 salivary gland cancer +MONDO:0004725 rectum carcinoma in situ MONDO:0004647 DOID:9174 DOID:8719 in situ carcinoma +MONDO:0004726 liver inflammatory myofibroblastic tumor MONDO:0005154 DOID:918 DOID:409 liver disorder +MONDO:0004732 kidney carcinoma in situ MONDO:0005240 DOID:9234 DOID:557 kidney disorder +MONDO:0004741 tyrosinemia MONDO:0004736 DOID:9275 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0004742 primary cerebellar degeneration MONDO:0005559 DOID:9277 DOID:1289 neurodegenerative disease +MONDO:0004743 hyperhomocysteinemia MONDO:0004736 DOID:9279 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0004745 priapism MONDO:0002036 DOID:9286 DOID:1529 penile disorder +MONDO:0004767 vesiculitis MONDO:0003150 DOID:9365 DOID:48 male reproductive system disorder +MONDO:0004768 keratoconjunctivitis MONDO:0005328 DOID:9368 DOID:5614 eye disorder +MONDO:0004774 gonococcal iridocyclitis MONDO:0004773 DOID:9384 DOID:9383 iridocyclitis +MONDO:0004788 cervix squamous papilloma MONDO:0002363 DOID:9445 DOID:2615 papilloma +MONDO:0004789 cholangitis MONDO:0002887 DOID:9446 DOID:4138 bile duct disorder +MONDO:0004796 infectious meningitis MONDO:0002602 DOID:9471 DOID:331 central nervous system disorder +MONDO:0004804 dacryoadenitis MONDO:0001854 DOID:950 DOID:1400 lacrimal apparatus disorder +MONDO:0004819 indolent plasma cell myeloma MONDO:0009693 DOID:9550 DOID:9538 plasma cell myeloma +MONDO:0004827 esophagus squamous cell papilloma MONDO:0000385 DOID:959 DOID:0050624 benign digestive system neoplasm +MONDO:0004827 esophagus squamous cell papilloma MONDO:0003749 DOID:959 DOID:6050 esophageal disorder +MONDO:0004828 lower urinary tract calculus MONDO:0002118 DOID:9590 DOID:18 urinary system disorder +MONDO:0004829 Krukenberg carcinoma MONDO:0002229 DOID:9597 DOID:2152 ovarian epithelial tumor +MONDO:0004832 esophagus leiomyoma MONDO:0000385 DOID:960 DOID:0050624 benign digestive system neoplasm +MONDO:0004832 esophagus leiomyoma MONDO:0003749 DOID:960 DOID:6050 esophageal disorder +MONDO:0004844 oral mucosa leukoplakia MONDO:0006858 DOID:9655 DOID:403 mouth disorder +MONDO:0004852 gonococcal keratitis MONDO:0003085 DOID:9697 DOID:4677 keratitis +MONDO:0004854 ophthalmia neonatorum MONDO:0006668 DOID:9699 DOID:9700 bacterial conjunctivitis +MONDO:0004860 vitreous disorder MONDO:0005328 DOID:9720 DOID:5614 eye disorder +MONDO:0004905 intestinal disaccharidase deficiency MONDO:0005020 DOID:9868 DOID:5295 intestinal disorder +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0005062 DOID:1040 DOID:0060058 lymphoma +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0005402 DOID:1040 DOID:1037 lymphoid leukemia +MONDO:0004950 gastric carcinoma MONDO:0004993 DOID:5517 DOID:305 carcinoma +MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0005096 DOID:0050866 DOID:1749 squamous cell carcinoma +MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0005515 DOID:0050866 DOID:8618 oral cavity cancer +MONDO:0004965 acinar cell carcinoma MONDO:0004993 DOID:3025 DOID:305 carcinoma +MONDO:0004971 adenoid cystic carcinoma MONDO:0004993 DOID:0080202 DOID:305 carcinoma +MONDO:0004973 adenosquamous lung carcinoma MONDO:0005096 DOID:4829 DOID:1749 squamous cell carcinoma +MONDO:0004973 adenosquamous lung carcinoma MONDO:0008903 DOID:4829 DOID:1324 lung cancer +MONDO:0004990 breast tumor luminal A or B MONDO:0004989 DOID:0060548 DOID:3459 breast carcinoma +MONDO:0004997 chondroblastoma MONDO:0005165 DOID:2649 DOID:0060084 benign neoplasm +MONDO:0005005 clear cell renal carcinoma MONDO:0005086 DOID:4467 DOID:4450 renal cell carcinoma +MONDO:0005008 colorectal adenocarcinoma MONDO:0005575 DOID:0050913 DOID:5672 colorectal cancer +MONDO:0005009 congestive heart failure MONDO:0005267 DOID:6000 DOID:114 heart disorder +MONDO:0005013 dedifferentiated chondrosarcoma MONDO:0008977 DOID:0081247 DOID:3371 chondrosarcoma +MONDO:0005032 follicular thyroid adenoma MONDO:0000627 DOID:2891 DOID:0060089 benign endocrine neoplasm +MONDO:0005032 follicular thyroid adenoma MONDO:0003240 DOID:2891 DOID:50 thyroid gland disorder +MONDO:0005059 leukemia MONDO:0002334 DOID:1240 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0005062 lymphoma MONDO:0002334 DOID:0060058 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0005063 medullary breast carcinoma MONDO:0004988 DOID:5605 DOID:3458 breast adenocarcinoma +MONDO:0005066 metabolic disease MONDO:0000001 DOID:0014667 DOID:4 disease +MONDO:0005070 neoplasm MONDO:0000001 DOID:14566 DOID:4 disease +MONDO:0005076 periodontitis MONDO:0006999 DOID:9893 DOID:1091 tooth disorder +MONDO:0005081 preeclampsia MONDO:0005044 DOID:10591 DOID:10763 hypertensive disorder +MONDO:0005085 pterygium MONDO:0000942 DOID:0002116 DOID:10124 corneal disorder +MONDO:0005106 lipoma MONDO:0000654 DOID:3315 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0005106 lipoma MONDO:0005165 DOID:3315 DOID:0060084 benign neoplasm +MONDO:0005109 HIV infectious disease MONDO:0005108 DOID:526 DOID:934 viral infectious disease +MONDO:0005111 Epstein-Barr virus infection MONDO:0005108 DOID:2938 DOID:934 viral infectious disease +MONDO:0005112 malignant pleural mesothelioma MONDO:0000376 DOID:7474 DOID:0050615 respiratory system cancer +MONDO:0005112 malignant pleural mesothelioma MONDO:0002037 DOID:7474 DOID:1532 pleural disorder +MONDO:0005115 temporal lobe epilepsy MONDO:0005384 DOID:3328 DOID:2234 focal epilepsy +MONDO:0005131 cervical carcinoma MONDO:0004993 DOID:2893 DOID:305 carcinoma +MONDO:0005133 endometriosis MONDO:0002263 DOID:289 DOID:229 female reproductive system disorder +MONDO:0005146 post-traumatic stress disorder MONDO:0005618 DOID:2055 DOID:2030 anxiety disorder +MONDO:0005161 human papilloma virus infection MONDO:0005108 DOID:11166 DOID:934 viral infectious disease +MONDO:0005183 ovarian cystadenoma MONDO:0000646 DOID:3269 DOID:0060112 ovarian benign neoplasm +MONDO:0005184 pancreatic ductal adenocarcinoma MONDO:0005192 DOID:3587 DOID:4905 exocrine pancreatic carcinoma +MONDO:0005192 exocrine pancreatic carcinoma MONDO:0004993 DOID:4905 DOID:305 carcinoma +MONDO:0005211 ovarian serous adenocarcinoma MONDO:0005140 DOID:0050933 DOID:4001 ovarian carcinoma +MONDO:0005212 rhabdomyosarcoma MONDO:0005089 DOID:3247 DOID:1115 sarcoma +MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0006474 DOID:5974 DOID:2671 transitional cell carcinoma +MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0018874 DOID:0081085 DOID:9119 acute myeloid leukemia +MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0018874 DOID:0081086 DOID:9119 acute myeloid leukemia +MONDO:0005230 cellulitis MONDO:0005093 DOID:3488 DOID:37 skin disorder +MONDO:0005231 hepatitis C virus infection MONDO:0005108 DOID:1883 DOID:934 viral infectious disease +MONDO:0005238 round cell liposarcoma MONDO:0005060 DOID:5692 DOID:3382 liposarcoma +MONDO:0005249 pneumonia MONDO:0005275 DOID:552 DOID:850 lung disorder +MONDO:0005271 allergic disease MONDO:0005046 DOID:1205 DOID:2914 immune system disorder +MONDO:0005281 gallbladder disorder MONDO:0004335 DOID:0060262 DOID:77 digestive system disorder +MONDO:0005301 multiple sclerosis MONDO:0002562 DOID:2377 DOID:3213 demyelinating disease +MONDO:0005302 attention deficit hyperactivity disorder, inattentive type MONDO:0000592 DOID:1094 DOID:0060038 specific developmental disorder +MONDO:0005306 ankylosing spondylitis MONDO:0000589 DOID:7147 DOID:0060032 autoimmune disorder of musculoskeletal system +MONDO:0005306 ankylosing spondylitis MONDO:0000812 DOID:7147 DOID:0060564 vertebral column disorder +MONDO:0005306 ankylosing spondylitis MONDO:0005578 DOID:7147 DOID:848 arthritic joint disease +MONDO:0005316 bacterial vaginosis MONDO:0002234 DOID:3385 DOID:2170 vaginitis +MONDO:0005316 bacterial vaginosis MONDO:0005113 DOID:3385 DOID:104 bacterial infectious disease +MONDO:0005336 myopathy MONDO:0003939 DOID:423 DOID:66 muscle tissue disorder +MONDO:0005339 androgenetic alopecia MONDO:0004907 DOID:0050801 DOID:987 alopecia +MONDO:0005341 skin basal cell carcinoma MONDO:0002656 DOID:2513 DOID:3451 skin carcinoma +MONDO:0005344 hepatitis B virus infection MONDO:0005108 DOID:2043 DOID:934 viral infectious disease +MONDO:0005364 Graves disease MONDO:0000569 DOID:12361 DOID:0060005 autoimmune disorder of endocrine system +MONDO:0005387 primary ovarian failure MONDO:0005558 DOID:5426 DOID:1100 ovarian disorder +MONDO:0005388 primary biliary cholangitis MONDO:0005155 DOID:12236 DOID:5082 cirrhosis of liver +MONDO:0005411 gallbladder cancer MONDO:0005281 DOID:3121 DOID:0060262 gallbladder disorder +MONDO:0005417 wet macular degeneration MONDO:0002175 DOID:10873 DOID:2007 degeneration of macula and posterior pole +MONDO:0005429 prion disease MONDO:0005550 DOID:649 DOID:0050117 infectious disease +MONDO:0005446 cutaneous leishmaniasis MONDO:0005093 DOID:9111 DOID:37 skin disorder +MONDO:0005447 testicular cancer MONDO:0002329 DOID:2998 DOID:2519 testicular disorder +MONDO:0005484 colorectal adenoma MONDO:0004972 DOID:0050860 DOID:657 adenoma +MONDO:0005484 colorectal adenoma MONDO:0004972 DOID:0050914 DOID:657 adenoma +MONDO:0005484 colorectal adenoma MONDO:0021118 DOID:0050860 DOID:4610 intestinal neoplasm +MONDO:0005484 colorectal adenoma MONDO:0021118 DOID:0050914 DOID:4610 intestinal neoplasm +MONDO:0005492 urticaria MONDO:0005093 DOID:1555 DOID:37 skin disorder +MONDO:0005494 triple-negative breast carcinoma MONDO:0007254 DOID:0060081 DOID:1612 breast cancer +MONDO:0005496 bile duct carcinoma MONDO:0004993 DOID:4897 DOID:305 carcinoma +MONDO:0005502 dengue disease MONDO:0005108 DOID:12205 DOID:934 viral infectious disease +MONDO:0005503 developmental disorder of mental health MONDO:0002025 DOID:0060037 DOID:150 psychiatric disorder +MONDO:0005515 oral cavity cancer MONDO:0006858 DOID:8618 DOID:403 mouth disorder +MONDO:0005518 pseudohermaphroditism MONDO:0002145 DOID:3765 DOID:1923 disorder of sexual differentiation +MONDO:0005519 renal pelvis carcinoma MONDO:0002367 DOID:4919 DOID:263 kidney cancer +MONDO:0005519 renal pelvis carcinoma MONDO:0004993 DOID:4919 DOID:305 carcinoma +MONDO:0005522 small intestine carcinoma MONDO:0004993 DOID:4907 DOID:305 carcinoma +MONDO:0005524 sweat gland carcinoma MONDO:0004993 DOID:5667 DOID:305 carcinoma +MONDO:0005534 ileocolitis MONDO:0005011 DOID:0060190 DOID:8778 Crohn disease +MONDO:0005538 proctitis MONDO:0001593 DOID:3127 DOID:1285 rectal disorder +MONDO:0005541 spondylolysis MONDO:0000812 DOID:2300 DOID:0060564 vertebral column disorder +MONDO:0005550 infectious disease MONDO:0000001 DOID:0050117 DOID:4 disease +MONDO:0005563 nut midline carcinoma MONDO:0004993 DOID:0060463 DOID:305 carcinoma +MONDO:0005572 polycythemia due to hypoxia MONDO:0002438 DOID:2835 DOID:2834 acquired polycythemia +MONDO:0005579 idiopathic generalized epilepsy MONDO:0005027 DOID:1827 DOID:1826 epilepsy +MONDO:0005590 breast ductal adenocarcinoma MONDO:0004989 DOID:3007 DOID:3459 breast carcinoma +MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0005096 DOID:2876 DOID:1749 squamous cell carcinoma +MONDO:0005609 herpes zoster MONDO:0005108 DOID:8536 DOID:934 viral infectious disease +MONDO:0005611 bladder transitional cell carcinoma MONDO:0006474 DOID:4006 DOID:2671 transitional cell carcinoma +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0005096 DOID:5637 DOID:1749 squamous cell carcinoma +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0009831 DOID:5637 DOID:1793 malignant pancreatic neoplasm +MONDO:0005616 pulmonary mucoepidermoid carcinoma MONDO:0005138 DOID:0050932 DOID:3905 lung carcinoma +MONDO:0005619 typhoid fever MONDO:0000314 DOID:13258 DOID:0050338 primary bacterial infectious disease +MONDO:0005620 cerebral amyloid angiopathy MONDO:0019052 DOID:9246 DOID:655 inborn errors of metabolism +MONDO:0005620 cerebral amyloid angiopathy MONDO:0019065 DOID:9246 DOID:9120 amyloidosis +MONDO:0005628 male breast carcinoma MONDO:0007254 DOID:1614 DOID:1612 breast cancer +MONDO:0005634 acute hemorrhagic conjunctivitis MONDO:0005108 DOID:11227 DOID:934 viral infectious disease +MONDO:0005634 acute hemorrhagic conjunctivitis MONDO:0006170 DOID:11227 DOID:4251 conjunctival disorder +MONDO:0005635 adenomyoma MONDO:0005165 DOID:2609 DOID:0060084 benign neoplasm +MONDO:0005642 atopic conjunctivitis MONDO:0005271 DOID:11204 DOID:1205 allergic disease +MONDO:0005645 ancylostomiasis MONDO:0004664 DOID:12841 DOID:883 helminthiasis +MONDO:0005647 anogenital human papillomavirus infection MONDO:0005108 DOID:11168 DOID:934 viral infectious disease +MONDO:0005650 Arenaviridae infectious disease MONDO:0005108 DOID:3944 DOID:934 viral infectious disease +MONDO:0005654 ascariasis MONDO:0004664 DOID:456 DOID:883 helminthiasis +MONDO:0005655 ascaridiasis MONDO:0004664 DOID:3108 DOID:883 helminthiasis +MONDO:0005669 black piedra MONDO:0024268 DOID:12711 DOID:0050133 superficial mycosis +MONDO:0005673 blind loop syndrome MONDO:0005020 DOID:10606 DOID:5295 intestinal disorder +MONDO:0005688 campylobacteriosis MONDO:0005113 DOID:13622 DOID:104 bacterial infectious disease +MONDO:0005692 cat-scratch disease MONDO:0004928 DOID:11258 DOID:9942 lymph node disorder +MONDO:0005694 cecal neoplasm MONDO:0021118 DOID:1517 DOID:4610 intestinal neoplasm +MONDO:0005696 central nervous system tuberculosis MONDO:0002602 DOID:1638 DOID:331 central nervous system disorder +MONDO:0005700 chickenpox MONDO:0005108 DOID:8659 DOID:934 viral infectious disease +MONDO:0005708 Colorado tick fever MONDO:0005108 DOID:4885 DOID:934 viral infectious disease +MONDO:0005709 common cold MONDO:0004867 DOID:10459 DOID:974 upper respiratory tract disorder +MONDO:0005720 cowpox MONDO:0005108 DOID:8956 DOID:934 viral infectious disease +MONDO:0005722 croup MONDO:0005087 DOID:9395 DOID:1579 respiratory system disorder +MONDO:0005728 diaphragm disorder MONDO:0003939 DOID:10481 DOID:0080000 muscle tissue disorder +MONDO:0005736 eastern equine encephalitis MONDO:0005108 DOID:10841 DOID:934 viral infectious disease +MONDO:0005736 eastern equine encephalitis MONDO:0005560 DOID:10841 DOID:936 brain disorder +MONDO:0005737 Ebola hemorrhagic fever MONDO:0005108 DOID:4325 DOID:934 viral infectious disease +MONDO:0005738 echinococcosis MONDO:0004664 DOID:1496 DOID:883 helminthiasis +MONDO:0005744 yolk sac tumor MONDO:0005040 DOID:1911 DOID:2994 germ cell tumor +MONDO:0005746 enterobiasis MONDO:0004664 DOID:7457 DOID:883 helminthiasis +MONDO:0005752 epidural abscess MONDO:0002602 DOID:11387 DOID:331 central nervous system disorder +MONDO:0005769 geniculate herpes zoster MONDO:0002098 DOID:9210 DOID:1756 facial nerve disorder +MONDO:0005779 hand, foot and mouth disease MONDO:0005108 DOID:10881 DOID:934 viral infectious disease +MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome MONDO:0005108 DOID:11266 DOID:934 viral infectious disease +MONDO:0005787 hepatic tuberculosis MONDO:0005154 DOID:407 DOID:409 liver disorder +MONDO:0005788 hepatitis E virus infection MONDO:0005108 DOID:4411 DOID:934 viral infectious disease +MONDO:0005789 hepatitis D virus infection MONDO:0005108 DOID:2047 DOID:934 viral infectious disease +MONDO:0005790 hepatitis A virus infection MONDO:0005108 DOID:12549 DOID:934 viral infectious disease +MONDO:0005800 hordeolum MONDO:0003382 DOID:9909 DOID:530 eyelid disorder +MONDO:0005800 hordeolum MONDO:0005113 DOID:9909 DOID:104 bacterial infectious disease +MONDO:0005808 inclusion conjunctivitis MONDO:0000315 DOID:13800 DOID:0050339 commensal bacterial infectious disease +MONDO:0005808 inclusion conjunctivitis MONDO:0006170 DOID:13800 DOID:4251 conjunctival disorder +MONDO:0005812 influenza MONDO:0005087 DOID:8469 DOID:1579 respiratory system disorder +MONDO:0005812 influenza MONDO:0005108 DOID:8469 DOID:934 viral infectious disease +MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:0006247 DOID:7848 DOID:5621 histiocytic and dendritic cell neoplasm +MONDO:0005814 intestinal cancer MONDO:0005020 DOID:10155 DOID:5295 intestinal disorder +MONDO:0005820 Lassa fever MONDO:0005108 DOID:9537 DOID:934 viral infectious disease +MONDO:0005833 lymphatic system disorder MONDO:0005046 DOID:75 DOID:2914 immune system disorder +MONDO:0005835 Lynch syndrome MONDO:0002254 DOID:3883 DOID:225 syndromic disease +MONDO:0005836 male reproductive organ cancer MONDO:0003150 DOID:3856 DOID:48 male reproductive system disorder +MONDO:0005844 chalazion MONDO:0004785 DOID:9903 DOID:9423 blepharitis +MONDO:0005845 meningoencephalitis MONDO:0002602 DOID:10554 DOID:331 central nervous system disorder +MONDO:0005861 multidrug-resistant tuberculosis MONDO:0018076 DOID:401 DOID:399 tuberculosis +MONDO:0005868 myelophthisic anemia MONDO:0015909 DOID:2354 DOID:12449 aplastic anemia +MONDO:0005872 nervous system cancer MONDO:0005071 DOID:3093 DOID:863 nervous system disorder +MONDO:0005880 oesophagostomiasis MONDO:0004664 DOID:3983 DOID:883 helminthiasis +MONDO:0005903 pericardial tuberculosis MONDO:0000474 DOID:4962 DOID:0050829 pericardium disorder +MONDO:0005913 phlebotomus fever MONDO:0005108 DOID:11360 DOID:934 viral infectious disease +MONDO:0005922 pleural tuberculosis MONDO:0002037 DOID:106 DOID:1532 pleural disorder +MONDO:0005933 pulmonary blastoma MONDO:0008903 DOID:4765 DOID:1324 lung cancer +MONDO:0005952 scarlet fever MONDO:0005113 DOID:8596 DOID:104 bacterial infectious disease +MONDO:0005963 sparganosis MONDO:0004664 DOID:10080 DOID:883 helminthiasis +MONDO:0005966 spleen cancer MONDO:0002332 DOID:672 DOID:2529 splenic disorder +MONDO:0005969 st. Louis encephalitis MONDO:0005108 DOID:10845 DOID:934 viral infectious disease +MONDO:0005974 strongyloidiasis MONDO:0004664 DOID:10955 DOID:883 helminthiasis +MONDO:0005984 tinea pedis MONDO:0005093 DOID:12403 DOID:37 skin disorder +MONDO:0005987 toxascariasis MONDO:0004664 DOID:3107 DOID:883 helminthiasis +MONDO:0005988 toxocariasis MONDO:0004664 DOID:9790 DOID:883 helminthiasis +MONDO:0005996 trichuriasis MONDO:0004664 DOID:1252 DOID:883 helminthiasis +MONDO:0006004 vasomotor rhinitis MONDO:0003014 DOID:4730 DOID:4483 rhinitis +MONDO:0006005 Venezuelan equine encephalitis MONDO:0005108 DOID:9584 DOID:934 viral infectious disease +MONDO:0006006 verrucous carcinoma MONDO:0005096 DOID:3737 DOID:1749 squamous cell carcinoma +MONDO:0006009 viral encephalitis MONDO:0005108 DOID:646 DOID:934 viral infectious disease +MONDO:0006009 viral encephalitis MONDO:0019956 DOID:646 DOID:9588 encephalitis +MONDO:0006011 viral hepatitis MONDO:0005108 DOID:1884 DOID:934 viral infectious disease +MONDO:0006012 viral pneumonia MONDO:0005108 DOID:10533 DOID:934 viral infectious disease +MONDO:0006014 vulvovaginal candidiasis MONDO:0001433 DOID:2272 DOID:121 vaginal disorder +MONDO:0006014 vulvovaginal candidiasis MONDO:0002026 DOID:2272 DOID:1508 candidiasis +MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:0005495 DOID:9931 DOID:9553 adrenal gland disorder +MONDO:0006019 yaws MONDO:0000314 DOID:10371 DOID:0050338 primary bacterial infectious disease +MONDO:0006028 cecum adenocarcinoma MONDO:0004970 DOID:3039 DOID:299 adenocarcinoma +MONDO:0006029 cecum carcinoma MONDO:0004993 DOID:1519 DOID:305 carcinoma +MONDO:0006034 gastric adenosquamous carcinoma MONDO:0004950 DOID:5635 DOID:5517 gastric carcinoma +MONDO:0006034 gastric adenosquamous carcinoma MONDO:0005096 DOID:5635 DOID:1749 squamous cell carcinoma +MONDO:0006043 metaplastic breast carcinoma MONDO:0004989 DOID:4680 DOID:3459 breast carcinoma +MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0001128 DOID:5515 DOID:10811 nasal cavity cancer +MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0005096 DOID:5515 DOID:1749 squamous cell carcinoma +MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0005082 DOID:3703 DOID:2526 prostate adenocarcinoma +MONDO:0006071 adenofibroma MONDO:0005165 DOID:2683 DOID:0060084 benign neoplasm +MONDO:0006076 adrenal gland neuroblastoma MONDO:0002817 DOID:5718 DOID:3953 adrenal gland cancer +MONDO:0006081 anal melanoma MONDO:0005105 DOID:14145 DOID:1909 melanoma +MONDO:0006082 anal squamous cell carcinoma MONDO:0005096 DOID:5525 DOID:1749 squamous cell carcinoma +MONDO:0006087 appendix adenocarcinoma MONDO:0004970 DOID:3608 DOID:299 adenocarcinoma +MONDO:0006108 bile duct adenoma MONDO:0002887 DOID:5381 DOID:4138 bile duct disorder +MONDO:0006108 bile duct adenoma MONDO:0004972 DOID:5381 DOID:657 adenoma +MONDO:0006108 bile duct adenoma MONDO:0005304 DOID:5381 DOID:0050625 biliary tract neoplasm +MONDO:0006132 cervical adenoid basal carcinoma MONDO:0005131 DOID:6428 DOID:2893 cervical carcinoma +MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0005131 DOID:4867 DOID:2893 cervical carcinoma +MONDO:0006134 cervical adenosquamous carcinoma MONDO:0002974 DOID:5636 DOID:4362 cervical cancer +MONDO:0006134 cervical adenosquamous carcinoma MONDO:0005096 DOID:5636 DOID:1749 squamous cell carcinoma +MONDO:0006172 conjunctival nevus MONDO:0000633 DOID:0050906 DOID:0060096 sensory organ benign neoplasm +MONDO:0006172 conjunctival nevus MONDO:0006170 DOID:0050906 DOID:4251 conjunctival disorder +MONDO:0006173 conjunctival squamous cell carcinoma MONDO:0005096 DOID:1748 DOID:1749 squamous cell carcinoma +MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0001572 DOID:5728 DOID:127 leiomyoma +MONDO:0006186 duodenal adenocarcinoma MONDO:0000920 DOID:10816 DOID:10021 duodenum cancer +MONDO:0006186 duodenal adenocarcinoma MONDO:0004970 DOID:10816 DOID:299 adenocarcinoma +MONDO:0006187 duodenal villous adenoma MONDO:0004972 DOID:0050927 DOID:657 adenoma +MONDO:0006189 eccrine porocarcinoma MONDO:0005506 DOID:7566 DOID:4921 eccrine sweat gland cancer +MONDO:0006197 endometrial small cell carcinoma MONDO:0004993 DOID:7139 DOID:305 carcinoma +MONDO:0006197 endometrial small cell carcinoma MONDO:0011962 DOID:7139 DOID:1380 endometrial cancer +MONDO:0006207 fallopian tube carcinosarcoma MONDO:0002158 DOID:1970 DOID:1964 fallopian tube cancer +MONDO:0006216 gallbladder adenoma MONDO:0004972 DOID:0050893 DOID:657 adenoma +MONDO:0006217 gallbladder adenosquamous carcinoma MONDO:0003220 DOID:5627 DOID:4948 gallbladder carcinoma +MONDO:0006217 gallbladder adenosquamous carcinoma MONDO:0005096 DOID:5627 DOID:1749 squamous cell carcinoma +MONDO:0006234 grade III prostatic intraepithelial neoplasia MONDO:0003105 DOID:8634 DOID:47 prostate disorder +MONDO:0006244 HER2 positive breast carcinoma MONDO:0007254 DOID:0060079 DOID:1612 breast cancer +MONDO:0006247 histiocytic and dendritic cell neoplasm MONDO:0002334 DOID:5621 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0006265 laryngeal small cell carcinoma MONDO:0002352 DOID:7144 DOID:2596 larynx cancer +MONDO:0006265 laryngeal small cell carcinoma MONDO:0004993 DOID:7144 DOID:305 carcinoma +MONDO:0006275 lung giant cell carcinoma MONDO:0003050 DOID:5583 DOID:4556 lung large cell carcinoma +MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0005275 DOID:3319 DOID:850 lung disorder +MONDO:0006279 lung sarcomatoid carcinoma MONDO:0005138 DOID:0080777 DOID:3905 lung carcinoma +MONDO:0006280 lung sclerosing hemangioma MONDO:0002732 DOID:5766 DOID:3683 lung benign neoplasm +MONDO:0006280 lung sclerosing hemangioma MONDO:0006500 DOID:495 DOID:255 hemangioma +MONDO:0006280 lung sclerosing hemangioma MONDO:0006500 DOID:5766 DOID:255 hemangioma +MONDO:0006288 malignant adrenal gland pheochromocytoma MONDO:0003606 DOID:0080347 DOID:5719 adrenal medulla cancer +MONDO:0006295 malignant urinary system neoplasm MONDO:0002118 DOID:3996 DOID:18 urinary system disorder +MONDO:0006303 middle ear squamous cell carcinoma MONDO:0005096 DOID:5526 DOID:1749 squamous cell carcinoma +MONDO:0006311 myelodysplastic/myeloproliferative neoplasm MONDO:0005170 DOID:4972 DOID:0070004 myeloid neoplasm +MONDO:0006343 ovarian transitional cell carcinoma MONDO:0002229 DOID:4000 DOID:2152 ovarian epithelial tumor +MONDO:0006344 ovarian yolk sac tumor MONDO:0003408 DOID:5350 DOID:5351 ovarian primitive germ cell tumor +MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0004700 DOID:0050931 DOID:9036 parotid gland cancer +MONDO:0006375 placental hemangioma MONDO:0000632 DOID:277 DOID:0060095 uterine benign neoplasm +MONDO:0006375 placental hemangioma MONDO:0005917 DOID:277 DOID:780 placenta disorder +MONDO:0006390 prostate small cell carcinoma MONDO:0004993 DOID:7141 DOID:305 carcinoma +MONDO:0006390 prostate small cell carcinoma MONDO:0008315 DOID:7141 DOID:10283 prostate cancer +MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma MONDO:0004669 DOID:297 DOID:8850 salivary gland cancer +MONDO:0006414 skin sarcoma MONDO:0002898 DOID:2687 DOID:4159 skin cancer +MONDO:0006414 skin sarcoma MONDO:0005089 DOID:2687 DOID:1115 sarcoma +MONDO:0006423 soft tissue chondroma MONDO:0000654 DOID:3814 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0006426 spinal cord primitive neuroectodermal tumor MONDO:0005462 DOID:6872 DOID:171 primitive neuroectodermal tumor +MONDO:0006446 testicular embryonal carcinoma MONDO:0005447 DOID:5680 DOID:2998 testicular cancer +MONDO:0006463 thyroid gland mucoepidermoid carcinoma MONDO:0015075 DOID:4687 DOID:3963 thyroid gland carcinoma +MONDO:0006470 tonsillar squamous cell carcinoma MONDO:0005096 DOID:0050920 DOID:1749 squamous cell carcinoma +MONDO:0006470 tonsillar squamous cell carcinoma MONDO:0006998 DOID:0050920 DOID:8858 tonsil cancer +MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0005184 DOID:7718 DOID:3498 pancreatic ductal adenocarcinoma +MONDO:0006482 ureter small cell carcinoma MONDO:0004993 DOID:6886 DOID:305 carcinoma +MONDO:0006482 ureter small cell carcinoma MONDO:0008627 DOID:6886 DOID:11819 ureter cancer +MONDO:0006486 uveal melanoma MONDO:0005105 DOID:6039 DOID:1909 melanoma +MONDO:0006497 cerebral palsy MONDO:0005560 DOID:1969 DOID:936 brain disorder +MONDO:0006500 hemangioma MONDO:0000629 DOID:255 DOID:0060091 cardiovascular organ benign neoplasm +MONDO:0006500 hemangioma MONDO:0005165 DOID:255 DOID:0060084 benign neoplasm +MONDO:0006500 hemangioma MONDO:0005385 DOID:255 DOID:178 vascular disorder +MONDO:0006512 estrogen-receptor positive breast cancer MONDO:0007254 DOID:0060075 DOID:1612 breast cancer +MONDO:0006513 estrogen-receptor negative breast cancer MONDO:0007254 DOID:0060076 DOID:1612 breast cancer +MONDO:0006525 allergic contact dermatitis MONDO:0005271 DOID:3042 DOID:1205 allergic disease +MONDO:0006526 allergic urticaria MONDO:0005271 DOID:10612 DOID:1205 allergic disease +MONDO:0006528 bacterial exanthem MONDO:0005113 DOID:0050487 DOID:104 bacterial infectious disease +MONDO:0006543 epidermolysis bullosa dystrophica MONDO:0006541 DOID:4959 DOID:2730 epidermolysis bullosa +MONDO:0006549 fibroepithelial polyp of the anus MONDO:0002519 DOID:8170 DOID:3128 anus disorder +MONDO:0006583 necrobiosis lipoidica MONDO:0005093 DOID:3486 DOID:37 skin disorder +MONDO:0006597 photosensitivity disease MONDO:0002406 DOID:3159 DOID:2723 dermatitis +MONDO:0006606 scleredema adultorum MONDO:0005093 DOID:3140 DOID:37 skin disorder +MONDO:0006639 adrenal cortex carcinoma MONDO:0002816 DOID:660 DOID:3952 adrenal cortex disorder +MONDO:0006639 adrenal cortex carcinoma MONDO:0002817 DOID:660 DOID:3953 adrenal gland cancer +MONDO:0006639 adrenal cortex carcinoma MONDO:0004970 DOID:3959 DOID:299 adenocarcinoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0004993 DOID:3948 DOID:305 carcinoma +MONDO:0006640 adrenal gland hyperfunction MONDO:0005495 DOID:3947 DOID:9553 adrenal gland disorder +MONDO:0006658 arteriolosclerosis MONDO:0002277 DOID:5162 DOID:2349 arteriosclerosis disorder +MONDO:0006659 arteriosclerosis obliterans MONDO:0002277 DOID:5160 DOID:2349 arteriosclerosis disorder +MONDO:0006665 chronic atrophic gastritis MONDO:0004966 DOID:8929 DOID:4029 gastritis +MONDO:0006676 beriberi MONDO:0006873 DOID:0070313 DOID:5113 nutritional deficiency disease +MONDO:0006683 brachial plexus neuropathy MONDO:0005244 DOID:3690 DOID:870 peripheral neuropathy +MONDO:0006700 choroid cancer MONDO:0001898 DOID:12759 DOID:1417 optic choroid disorder +MONDO:0006709 common bile duct neoplasm MONDO:0005304 DOID:4608 DOID:0050625 biliary tract neoplasm +MONDO:0006717 cutaneous fibrous histiocytoma MONDO:0002531 DOID:4418 DOID:3165 skin neoplasm +MONDO:0006734 benign duodenal neoplasm MONDO:0002866 DOID:1737 DOID:4072 duodenal disorder +MONDO:0006734 benign duodenal neoplasm MONDO:0004251 DOID:1737 DOID:7505 small intestine neoplasm +MONDO:0006793 hyperpituitarism MONDO:0003381 DOID:2444 DOID:53 pituitary gland disorder +MONDO:0006834 lip cancer MONDO:0004748 DOID:8564 DOID:9297 lip disorder +MONDO:0006851 meconium aspiration syndrome MONDO:0005275 DOID:11049 DOID:850 lung disorder +MONDO:0006861 myeloid sarcoma MONDO:0002334 DOID:8683 DOID:2531 hematopoietic and lymphoid system neoplasm +MONDO:0006876 ocular tuberculosis MONDO:0005328 DOID:0070344 DOID:5614 eye disorder +MONDO:0006876 ocular tuberculosis MONDO:0018076 DOID:0070344 DOID:399 tuberculosis +MONDO:0006915 polyradiculoneuropathy MONDO:0003620 DOID:4308 DOID:574 peripheral nervous system disorder +MONDO:0006932 pulmonary edema MONDO:0021113 DOID:11396 DOID:11162 respiratory failure +MONDO:0006938 pyelitis MONDO:0005240 DOID:2744 DOID:557 kidney disorder +MONDO:0006946 renal osteodystrophy MONDO:0005240 DOID:13068 DOID:557 kidney disorder +MONDO:0006952 retinopathy of prematurity MONDO:0005283 DOID:13025 DOID:5679 retinal disorder +MONDO:0006957 root caries MONDO:0005276 DOID:14089 DOID:216 dental caries +MONDO:0006962 sebaceous adenocarcinoma MONDO:0002898 DOID:4840 DOID:4159 skin cancer +MONDO:0006962 sebaceous adenocarcinoma MONDO:0004993 DOID:4840 DOID:305 carcinoma +MONDO:0006962 sebaceous adenocarcinoma MONDO:0006607 DOID:4840 DOID:9098 sebaceous gland disorder +MONDO:0006963 sebaceous gland neoplasm MONDO:0002531 DOID:5759 DOID:3165 skin neoplasm +MONDO:0006976 somatostatinoma MONDO:0019496 DOID:4430 DOID:169 neuroendocrine neoplasm +MONDO:0006982 subacute thyroiditis MONDO:0004126 DOID:7165 DOID:7166 thyroiditis +MONDO:0006984 subdural empyema MONDO:0002602 DOID:11389 DOID:331 central nervous system disorder +MONDO:0006996 thyroid crisis MONDO:0003240 DOID:12837 DOID:50 thyroid gland disorder +MONDO:0006998 tonsil cancer MONDO:0004608 DOID:8858 DOID:8557 oropharynx cancer +MONDO:0007001 tricuspid valve prolapse MONDO:0000471 DOID:5644 DOID:0050826 tricuspid valve disorder +MONDO:0007012 variant Creutzfeldt-Jakob disease MONDO:0005429 DOID:5435 DOID:649 prion disease +MONDO:0007019 vulvovaginitis MONDO:0002263 DOID:2273 DOID:229 female reproductive system disorder +MONDO:0007040 Sakati-Nyhan syndrome MONDO:0019796 DOID:0060359 DOID:12960 acrocephalosyndactyly +MONDO:0007043 Pfeiffer syndrome MONDO:0019796 DOID:14705 DOID:12960 acrocephalosyndactyly +MONDO:0007052 growth hormone secreting pituitary adenoma 1 MONDO:0006373 DOID:0112009 DOID:3829 pituitary gland adenoma +MONDO:0007057 Acroosteolysis dominant type MONDO:0005381 DOID:2736 DOID:0080001 bone disorder +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0015974 DOID:5810 DOID:627 severe combined immunodeficiency +MONDO:0007072 ADULT syndrome MONDO:0002254 DOID:0050601 DOID:225 syndromic disease +MONDO:0007079 alcohol dependence MONDO:0004938 DOID:0050741 DOID:9973 substance dependence +MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0003009 DOID:14080 DOID:446 hyperaldosteronism +MONDO:0007088 Alzheimer disease type 1 MONDO:0000426 DOID:0080348 DOID:0050736 autosomal dominant disease +MONDO:0007088 Alzheimer disease type 1 MONDO:0004975 DOID:0080348 DOID:10652 Alzheimer disease +MONDO:0007089 Alzheimer disease 2 MONDO:0004975 DOID:0110035 DOID:10652 Alzheimer disease +MONDO:0007092 amelogenesis imperfecta type 1B MONDO:0019507 DOID:0110052 DOID:2187 amelogenesis imperfecta +MONDO:0007094 amelogenesis imperfecta type 1A MONDO:0019507 DOID:0110054 DOID:2187 amelogenesis imperfecta +MONDO:0007097 Finnish type amyloidosis MONDO:0005328 DOID:0050637 DOID:5614 eye disorder +MONDO:0007099 familial visceral amyloidosis MONDO:0019052 DOID:0050636 DOID:655 inborn errors of metabolism +MONDO:0007099 familial visceral amyloidosis MONDO:0019065 DOID:0050636 DOID:9120 amyloidosis +MONDO:0007100 familial amyloid neuropathy MONDO:0019052 DOID:0050638 DOID:655 inborn errors of metabolism +MONDO:0007100 familial amyloid neuropathy MONDO:0019065 DOID:0050638 DOID:9120 amyloidosis +MONDO:0007103 amyotrophic lateral sclerosis type 1 MONDO:0004976 DOID:0060193 DOID:332 amyotrophic lateral sclerosis +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:0005559 DOID:0111246 DOID:1289 neurodegenerative disease +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0004976 DOID:0060213 DOID:332 amyotrophic lateral sclerosis +MONDO:0007108 anal canal carcinoma MONDO:0004993 DOID:6126 DOID:305 carcinoma +MONDO:0007130 congenital total pulmonary venous return anomaly MONDO:0005453 DOID:4297 DOID:1682 congenital heart disease +MONDO:0007135 nonsyndromic congenital nail disorder 6 MONDO:0019284 DOID:0080084 DOID:0080683 inherited isolated nail anomaly +MONDO:0007145 aplasia cutis congenita MONDO:0005093 DOID:0080661 DOID:37 skin disorder +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 MONDO:0016587 DOID:0110070 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0007154 arteriovenous malformations of the brain MONDO:0006500 DOID:0060688 DOID:255 hemangioma +MONDO:0007164 spastic ataxia 1 MONDO:0000426 DOID:0050772 DOID:0050736 autosomal dominant disease +MONDO:0007164 spastic ataxia 1 MONDO:0017845 DOID:0050772 DOID:0050952 spastic ataxia +MONDO:0007165 spastic ataxia 7 MONDO:0000426 DOID:0050945 DOID:0050736 autosomal dominant disease +MONDO:0007165 spastic ataxia 7 MONDO:0017845 DOID:0050945 DOID:0050952 spastic ataxia +MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO:0005328 DOID:0111228 DOID:5614 eye disorder +MONDO:0007181 axial osteomalacia MONDO:0002933 DOID:0080039 DOID:4254 osteosclerosis +MONDO:0007182 Machado-Joseph disease MONDO:0020380 DOID:1440 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007186 gastroesophageal reflux disease MONDO:0004335 DOID:8534 DOID:77 digestive system disorder +MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0002254 DOID:2512 DOID:225 syndromic disease +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0000429 DOID:14778 DOID:0050739 autosomal genetic disease +MONDO:0007220 brachydactyly type B1 MONDO:0021004 DOID:0110969 DOID:0050581 brachydactyly +MONDO:0007223 brachydactyly type E1 MONDO:0021004 DOID:0110972 DOID:0050581 brachydactyly +MONDO:0007239 epidermolytic ichthyosis MONDO:0019269 DOID:4603 DOID:1697 ichthyosis +MONDO:0007254 breast cancer MONDO:0002657 DOID:1612 DOID:3463 breast disorder +MONDO:0007254 breast cancer MONDO:0004992 DOID:1612 DOID:0050686 cancer +MONDO:0007256 hepatocellular carcinoma MONDO:0002691 DOID:686 DOID:3571 liver cancer +MONDO:0007256 hepatocellular carcinoma MONDO:0004993 DOID:686 DOID:305 carcinoma +MONDO:0007269 dilated cardiomyopathy 1A MONDO:0005021 DOID:0110425 DOID:12930 dilated cardiomyopathy +MONDO:0007270 cardiomyopathy, familial restrictive, 1 MONDO:0005201 DOID:0111425 DOID:397 restrictive cardiomyopathy +MONDO:0007278 cataract 32 multiple types MONDO:0005129 DOID:0110227 DOID:83 cataract +MONDO:0007279 cataract 7 MONDO:0005129 DOID:0110260 DOID:83 cataract +MONDO:0007280 cataract 8 multiple types MONDO:0005129 DOID:0110228 DOID:83 cataract +MONDO:0007283 cataract 42 MONDO:0005129 DOID:0110237 DOID:83 cataract +MONDO:0007284 cataract 20 multiple types MONDO:0005129 DOID:0110240 DOID:83 cataract +MONDO:0007286 cataract 30 MONDO:0005129 DOID:0110248 DOID:83 cataract +MONDO:0007287 cataract 41 MONDO:0005129 DOID:0110241 DOID:83 cataract +MONDO:0007288 cataract 6 multiple types MONDO:0005129 DOID:0110229 DOID:83 cataract +MONDO:0007289 cataract 13 with adult I phenotype MONDO:0005129 DOID:0110242 DOID:83 cataract +MONDO:0007290 cataract 5 multiple types MONDO:0005129 DOID:0110255 DOID:83 cataract +MONDO:0007294 central core myopathy MONDO:0019952 DOID:3529 DOID:0081337 congenital myopathy +MONDO:0007296 spinocerebellar ataxia type 31 MONDO:0020380 DOID:0050980 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007298 spinocerebellar ataxia type 29 MONDO:0020380 DOID:0050978 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0000426 DOID:0110152 DOID:0050736 autosomal dominant disease +MONDO:0007321 autosomal dominant chondrodysplasia punctata MONDO:0019701 DOID:0060293 DOID:2581 chondrodysplasia punctata +MONDO:0007339 blepharocheilodontic syndrome MONDO:0002254 DOID:0080344 DOID:225 syndromic disease +MONDO:0007361 C1 inhibitor deficiency MONDO:0003832 DOID:0060002 DOID:626 complement deficiency +MONDO:0007400 Jackson-Weiss syndrome MONDO:0002254 DOID:0111337 DOID:225 syndromic disease +MONDO:0007404 Cri-du-chat syndrome MONDO:0000761 DOID:12580 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007405 Crouzon syndrome MONDO:0015469 DOID:2339 DOID:2340 craniosynostosis +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0002254 DOID:0050660 DOID:225 syndromic disease +MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 MONDO:0015448 DOID:0080111 DOID:0111139 mitochondrial complex III deficiency +MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0020380 DOID:0060162 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome MONDO:0005516 DOID:0080721 DOID:2256 osteochondrodysplasia +MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0019288 DOID:0060257 DOID:10123 skin pigmentation disorder +MONDO:0007488 Lewy body dementia MONDO:0001627 DOID:12217 DOID:1307 dementia +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0000476 DOID:0060730 DOID:0050835 generalized dystonia +MONDO:0007493 torsion dystonia 4 MONDO:0003441 DOID:0090041 DOID:543 dystonic disorder +MONDO:0007495 dystonia 5 MONDO:0003441 DOID:0090043 DOID:543 dystonic disorder +MONDO:0007496 dystonia 12 MONDO:0003441 DOID:0090056 DOID:543 dystonic disorder +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:0000426 DOID:0111663 DOID:0050736 autosomal dominant disease +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:0016535 DOID:0111663 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0020066 DOID:14756 DOID:13359 Ehlers-Danlos syndrome +MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0002254 DOID:5572 DOID:225 syndromic disease +MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia MONDO:0020076 DOID:0111344 DOID:2226 myeloproliferative neoplasm +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0002254 DOID:0111348 DOID:225 syndromic disease +MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0020380 DOID:0050981 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0007576 esophageal cancer MONDO:0003749 DOID:5041 DOID:6050 esophageal disorder +MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 DOID:0111412 DOID:0050535 exudative vitreoretinopathy +MONDO:0007603 Felty syndrome MONDO:0007179 DOID:11042 DOID:417 autoimmune disease +MONDO:0007619 isolated congenital adermatoglyphia MONDO:0005093 DOID:0111357 DOID:37 skin disorder +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb MONDO:0000761 DOID:0060399 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007639 fundus albipunctatus MONDO:0019118 DOID:11105 DOID:8501 inherited retinal dystrophy +MONDO:0007662 anterior segment dysgenesis 4 MONDO:0019503 DOID:0080609 DOID:0060648 anterior segment dysgenesis +MONDO:0007667 subependymoma MONDO:0016698 DOID:4843 DOID:4844 ependymoma +MONDO:0007699 Hashimoto thyroiditis MONDO:0000569 DOID:7188 DOID:0060005 autoimmune disorder of endocrine system +MONDO:0007700 hawkinsinuria MONDO:0004736 DOID:0111362 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0000761 DOID:0110029 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007732 Holt-Oram syndrome MONDO:0002254 DOID:0060468 DOID:225 syndromic disease +MONDO:0007739 Huntington disease MONDO:0005559 DOID:12858 DOID:1289 neurodegenerative disease +MONDO:0007747 isolated hyperchlorhidrosis MONDO:0005093 DOID:0111371 DOID:37 skin disorder +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive MONDO:0005093 DOID:0111373 DOID:37 skin disorder +MONDO:0007787 Ambras type hypertrichosis universalis congenita MONDO:0019280 DOID:0111060 DOID:420 hypertrichosis +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia MONDO:0018555 DOID:0090078 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0000761 DOID:0060878 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007800 chromosome 18p deletion syndrome MONDO:0000761 DOID:0060406 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007810 autosomal dominant ichthyosis vulgaris MONDO:0019269 DOID:1702 DOID:1697 ichthyosis +MONDO:0007813 superficial epidermolytic ichthyosis MONDO:0019269 DOID:0060877 DOID:1697 ichthyosis +MONDO:0007838 Jacobsen syndrome MONDO:0000761 DOID:0111723 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia MONDO:0018555 DOID:0090083 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0007846 KBG syndrome MONDO:0002254 DOID:14780 DOID:225 syndromic disease +MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0002254 DOID:0060871 DOID:225 syndromic disease +MONDO:0007858 palmoplantar keratoderma, punctate type 1A MONDO:0017675 DOID:0080214 DOID:0060361 punctate palmoplantar keratoderma +MONDO:0007860 focal palmoplantar and gingival keratoderma MONDO:0006590 DOID:0070553 DOID:3390 palmoplantar keratosis +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0002254 DOID:4998 DOID:225 syndromic disease +MONDO:0007886 uterine corpus leiomyoma MONDO:0000632 DOID:13223 DOID:0060095 uterine benign neoplasm +MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0021060 DOID:14291 DOID:0080690 RASopathy +MONDO:0007915 systemic lupus erythematosus MONDO:0003900 DOID:9074 DOID:65 connective tissue disorder +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0000761 DOID:0090016 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0007937 renal hypomagnesemia 2 MONDO:0018100 DOID:0060885 DOID:0060879 familial primary hypomagnesemia +MONDO:0007943 Nager acrofacial dysostosis MONDO:0018237 DOID:5768 DOID:0060379 acrofacial dysostosis +MONDO:0007947 Marfan syndrome MONDO:0003900 DOID:14323 DOID:65 connective tissue disorder +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0002254 DOID:10041 DOID:225 syndromic disease +MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0002254 DOID:0111511 DOID:225 syndromic disease +MONDO:0007970 melorheostosis MONDO:0002933 DOID:4253 DOID:4254 osteosclerosis +MONDO:0007987 Kniest dysplasia MONDO:0005516 DOID:0080045 DOID:2256 osteochondrodysplasia +MONDO:0007988 autosomal dominant primary microcephaly MONDO:0001149 DOID:14725 DOID:10907 microcephaly +MONDO:0008013 chromosome 9p deletion syndrome MONDO:0000761 DOID:0060732 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008039 tropical spastic paraparesis MONDO:0005108 DOID:321 DOID:934 viral infectious disease +MONDO:0008051 tubular aggregate myopathy MONDO:0005336 DOID:0080089 DOID:423 myopathy +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0018958 DOID:0110927 DOID:3191 nemaline myopathy +MONDO:0008075 schwannomatosis MONDO:0000426 DOID:3204 DOID:0050736 autosomal dominant disease +MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0017169 DOID:10016 DOID:3125 multiple endocrine neoplasia +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0016295 DOID:0110720 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:0005244 DOID:0060843 DOID:870 peripheral neuropathy +MONDO:0008090 cyclic hematopoiesis MONDO:0001475 DOID:5339 DOID:1227 neutropenia +MONDO:0008093 nevus, epidermal MONDO:0005093 DOID:0111162 DOID:37 skin disorder +MONDO:0008111 oculodentodigital dysplasia MONDO:0002254 DOID:0060291 DOID:225 syndromic disease +MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:0020121 DOID:11719 DOID:9884 muscular dystrophy +MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0020380 DOID:0050954 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0008133 optic atrophy 3 MONDO:0000426 DOID:0111433 DOID:0050736 autosomal dominant disease +MONDO:0008133 optic atrophy 3 MONDO:0003608 DOID:0111433 DOID:5723 optic atrophy +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0000426 DOID:0111441 DOID:0050736 autosomal dominant disease +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0003608 DOID:0111441 DOID:5723 optic atrophy +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 DOID:0110334 DOID:12347 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 DOID:0110341 DOID:12347 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 DOID:0110340 DOID:12347 osteogenesis imperfecta +MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures MONDO:0019019 DOID:0110335 DOID:12347 osteogenesis imperfecta +MONDO:0008151 gnathodiaphyseal dysplasia MONDO:0005516 DOID:0111533 DOID:2256 osteochondrodysplasia +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:0000426 DOID:0110938 DOID:0050736 autosomal dominant disease +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:0017198 DOID:0110938 DOID:13533 osteopetrosis +MONDO:0008170 ovarian cancer MONDO:0005558 DOID:2394 DOID:1100 ovarian disorder +MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0019056 DOID:0111538 DOID:440 neuromuscular disease +MONDO:0008207 chondromalacia patellae MONDO:0005381 DOID:13357 DOID:0080001 bone disorder +MONDO:0008214 Pelger-Huet anomaly MONDO:0005570 DOID:9631 DOID:74 hematologic disorder +MONDO:0008222 Andersen-Tawil syndrome MONDO:0002442 DOID:0050434 DOID:2843 long QT syndrome +MONDO:0008226 periodontitis, aggressive 1 MONDO:0005076 DOID:1474 DOID:824 periodontitis +MONDO:0008228 pernicious anemia MONDO:0002280 DOID:13381 DOID:2355 anemia +MONDO:0008231 Peyronie disease MONDO:0002036 DOID:8616 DOID:1529 penile disorder +MONDO:0008233 pheochromocytoma MONDO:0000627 DOID:0050771 DOID:0060089 benign endocrine neoplasm +MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0017169 DOID:0050430 DOID:3125 multiple endocrine neoplasia +MONDO:0008244 piebaldism MONDO:0002051 DOID:3263 DOID:16 integumentary system disorder +MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO:0005328 DOID:0111541 DOID:5614 eye disorder +MONDO:0008260 Kindler syndrome MONDO:0005093 DOID:0060472 DOID:37 skin disorder +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:0004335 DOID:0050787 DOID:77 digestive system disorder +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0002254 DOID:0111543 DOID:225 syndromic disease +MONDO:0008303 familial male-limited precocious puberty MONDO:0005151 DOID:0111545 DOID:28 endocrine system disorder +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0015333 DOID:3911 DOID:0081332 progeroid syndrome +MONDO:0008315 prostate cancer MONDO:0003105 DOID:10283 DOID:47 prostate disorder +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO:0018638 DOID:0060855 DOID:4479 pseudohypoaldosteronism +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0017415 DOID:0081321 DOID:0080110 multiple pterygium syndrome +MONDO:0008346 pulmonary hemosiderosis MONDO:0005275 DOID:12118 DOID:850 lung disorder +MONDO:0008371 Dowling-Degos disease MONDO:0019288 DOID:0060256 DOID:10123 skin pigmentation disorder +MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0020128 DOID:0111552 DOID:231 motor neuron disorder +MONDO:0008412 intestinal schistosomiasis MONDO:0005020 DOID:0050597 DOID:5295 intestinal disorder +MONDO:0008422 autosomal dominant sideroblastic anemia MONDO:0015194 DOID:0060335 DOID:8955 sideroblastic anemia +MONDO:0008457 spinocerebellar ataxia type 6 MONDO:0020380 DOID:0050956 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0004976 DOID:0060204 DOID:332 amyotrophic lateral sclerosis +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0020380 DOID:0050955 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0005516 DOID:0080677 DOID:2256 osteochondrodysplasia +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0005516 DOID:4258 DOID:2256 osteochondrodysplasia +MONDO:0008492 stiff skin syndrome MONDO:0005093 DOID:0111561 DOID:37 skin disorder +MONDO:0008512 syndactyly type 1 MONDO:0000762 DOID:0111816 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0008512 syndactyly type 1 MONDO:0021002 DOID:0111816 DOID:11193 syndactyly +MONDO:0008514 syndactyly type 3 MONDO:0021002 DOID:0111817 DOID:11193 syndactyly +MONDO:0008515 syndactyly type 4 MONDO:0021002 DOID:0111818 DOID:11193 syndactyly +MONDO:0008516 syndactyly type 5 MONDO:0021002 DOID:0111819 DOID:11193 syndactyly +MONDO:0008521 tarsal-carpal coalition syndrome MONDO:0000426 DOID:0050789 DOID:0050736 autosomal dominant disease +MONDO:0008523 Blau syndrome MONDO:0002254 DOID:0050678 DOID:225 syndromic disease +MONDO:0008559 thrombophilia due to thrombin defect MONDO:0002305 DOID:0080701 DOID:2452 thrombophilia +MONDO:0008559 thrombophilia due to thrombin defect MONDO:0002305 DOID:0111907 DOID:2452 thrombophilia +MONDO:0008560 thrombophilia due to activated protein C resistance MONDO:0002305 DOID:0111902 DOID:2452 thrombophilia +MONDO:0008564 DiGeorge syndrome MONDO:0000761 DOID:11198 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008575 nicotine dependence MONDO:0004938 DOID:0050742 DOID:9973 substance dependence +MONDO:0008582 tooth and nail syndrome MONDO:0002254 DOID:6678 DOID:225 syndromic disease +MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:0004335 DOID:0080171 DOID:77 digestive system disorder +MONDO:0008592 tricho-dento-osseous syndrome MONDO:0002254 DOID:0111565 DOID:225 syndromic disease +MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0002254 DOID:14743 DOID:225 syndromic disease +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0002254 DOID:0080376 DOID:225 syndromic disease +MONDO:0008627 ureter cancer MONDO:0001926 DOID:11819 DOID:1426 ureteral disorder +MONDO:0008633 Muckle-Wells syndrome MONDO:0002254 DOID:0050854 DOID:225 syndromic disease +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0005385 DOID:0111567 DOID:178 vascular disorder +MONDO:0008644 velocardiofacial syndrome MONDO:0000761 DOID:12583 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0005520 DOID:0050948 DOID:10609 rickets +MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0004884 DOID:0111570 DOID:9799 eye degenerative disorder +MONDO:0008671 Waardenburg syndrome type 2A MONDO:0018094 DOID:0110950 DOID:9258 Waardenburg syndrome +MONDO:0008672 Watson syndrome MONDO:0000426 DOID:0070483 DOID:0050736 autosomal dominant disease +MONDO:0008672 Watson syndrome MONDO:0021060 DOID:0070483 DOID:0080690 RASopathy +MONDO:0008678 Williams syndrome MONDO:0000761 DOID:1928 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008681 WAGR syndrome MONDO:0000761 DOID:14515 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0000761 DOID:0050460 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0008686 isolated familial wooly hair disorder MONDO:0002917 DOID:0111572 DOID:421 disorder of pilosebaceous unit +MONDO:0008692 abetalipoproteinemia MONDO:0001822 DOID:1386 DOID:1387 hypolipoproteinemia +MONDO:0008692 abetalipoproteinemia MONDO:0006025 DOID:1386 DOID:0050737 autosomal recessive disease +MONDO:0008715 acrofrontofacionasal dysostosis MONDO:0018234 DOID:0060226 DOID:1934 dysostosis +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency MONDO:0005152 DOID:0080150 DOID:9406 hypopituitarism +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO:0002525 DOID:0080153 DOID:3146 inherited lipid metabolism disorder +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:0002525 DOID:0080154 DOID:3146 inherited lipid metabolism disorder +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0002525 DOID:0080155 DOID:3146 inherited lipid metabolism disorder +MONDO:0008733 familial glucocorticoid deficiency MONDO:0005495 DOID:0080620 DOID:9553 adrenal gland disorder +MONDO:0008736 peroxisome biogenesis disorder 2B MONDO:0006025 DOID:0080622 DOID:0050737 autosomal recessive disease +MONDO:0008736 peroxisome biogenesis disorder 2B MONDO:0019234 DOID:0080622 DOID:0080377 peroxisome biogenesis disorder +MONDO:0008737 congenital afibrinogenemia MONDO:0001531 DOID:2236 DOID:1247 blood coagulation disease +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0018910 DOID:0070094 DOID:0050632 oculocutaneous albinism +MONDO:0008748 Hermansky-Pudlak syndrome 1 MONDO:0019312 DOID:0060539 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0008751 corticosterone methyloxidase type 1 deficiency MONDO:0005495 DOID:0080626 DOID:9553 adrenal gland disorder +MONDO:0008753 alkaptonuria MONDO:0004736 DOID:9270 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008757 alopecia universalis congenita MONDO:0004907 DOID:0050634 DOID:987 alopecia +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0018158 DOID:0080122 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0008760 beta-ketothiolase deficiency MONDO:0004736 DOID:14723 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008764 Leber congenital amaurosis 1 MONDO:0006025 DOID:0110078 DOID:0050737 autosomal recessive disease +MONDO:0008765 Leber congenital amaurosis 2 MONDO:0006025 DOID:0110016 DOID:0050737 autosomal recessive disease +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0016295 DOID:0110731 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:0016295 DOID:0110730 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0016295 DOID:0110726 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0008770 amelogenesis imperfecta type 1C MONDO:0019507 DOID:0110056 DOID:2187 amelogenesis imperfecta +MONDO:0008772 amelogenesis imperfecta type 2A1 MONDO:0019507 DOID:0110057 DOID:2187 amelogenesis imperfecta +MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria MONDO:0004736 DOID:0111453 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile MONDO:0004976 DOID:0060194 DOID:332 amyotrophic lateral sclerosis +MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia MONDO:0004976 DOID:0110067 DOID:332 amyotrophic lateral sclerosis +MONDO:0008785 sideroblastic anemia 2 MONDO:0006025 DOID:0060065 DOID:0050737 autosomal recessive disease +MONDO:0008785 sideroblastic anemia 2 MONDO:0015194 DOID:0060065 DOID:8955 sideroblastic anemia +MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO:0019284 DOID:0080082 DOID:0080683 inherited isolated nail anomaly +MONDO:0008803 Antley-Bixler syndrome MONDO:0002254 DOID:0050462 DOID:225 syndromic disease +MONDO:0008803 Antley-Bixler syndrome MONDO:0006025 DOID:0050462 DOID:0050737 autosomal recessive disease +MONDO:0008803 Antley-Bixler syndrome MONDO:0015469 DOID:0081289 DOID:2340 craniosynostosis +MONDO:0008814 hyperargininemia MONDO:0004739 DOID:9278 DOID:9267 urea cycle disorder +MONDO:0008815 argininosuccinic aciduria MONDO:0004736 DOID:14755 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0008818 arterial tortuosity syndrome MONDO:0003900 DOID:0050645 DOID:65 connective tissue disorder +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood MONDO:0005516 DOID:0090004 DOID:2256 osteochondrodysplasia +MONDO:0008830 aspartylglucosaminuria MONDO:0002561 DOID:0050461 DOID:3211 lysosomal storage disease +MONDO:0008853 Barber-Say syndrome MONDO:0002254 DOID:0060549 DOID:225 syndromic disease +MONDO:0008855 MHC class II deficiency MONDO:0015974 DOID:5812 DOID:627 severe combined immunodeficiency +MONDO:0008858 Behr syndrome MONDO:0005071 DOID:0111580 DOID:863 nervous system disorder +MONDO:0008865 Bietti crystalline corneoretinal dystrophy MONDO:0004580 DOID:0050664 DOID:8466 retinal degeneration +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 MONDO:0004822 DOID:0080526 DOID:9563 bronchiectasis +MONDO:0008890 progressive bulbar palsy MONDO:0020128 DOID:681 DOID:231 motor neuron disorder +MONDO:0008893 C syndrome MONDO:0002254 DOID:0111581 DOID:225 syndromic disease +MONDO:0008903 lung cancer MONDO:0005275 DOID:1324 DOID:850 lung disorder +MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0002525 DOID:0111585 DOID:3146 inherited lipid metabolism disorder +MONDO:0008925 cataract 46 juvenile-onset MONDO:0005129 DOID:0110243 DOID:83 cataract +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0015244 DOID:0080061 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0008945 myoclonic cerebellar dyssynergia MONDO:0005559 DOID:12707 DOID:1289 neurodegenerative disease +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) MONDO:0019609 DOID:0080476 DOID:905 Zellweger spectrum disorders +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) MONDO:0019609 DOID:0080477 DOID:905 Zellweger spectrum disorders +MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0006025 DOID:0110185 DOID:0050737 autosomal recessive disease +MONDO:0008963 Chediak-Higashi syndrome MONDO:0002254 DOID:2935 DOID:225 syndromic disease +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0000249 DOID:0060296 DOID:0050129 secretory diarrhea +MONDO:0008970 chondrodysplasia Blomstrand type MONDO:0005516 DOID:0060387 DOID:2256 osteochondrodysplasia +MONDO:0008974 Greenberg dysplasia MONDO:0019052 DOID:0111588 DOID:655 inborn errors of metabolism +MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0005516 DOID:0080026 DOID:2256 osteochondrodysplasia +MONDO:0008999 Cohen syndrome MONDO:0002254 DOID:0111590 DOID:225 syndromic disease +MONDO:0009006 complement component 2 deficiency MONDO:0003832 DOID:0060295 DOID:626 complement deficiency +MONDO:0009026 Costello syndrome MONDO:0021060 DOID:0050469 DOID:0080690 RASopathy +MONDO:0009031 craniodiaphyseal dysplasia MONDO:0002933 DOID:0080032 DOID:4254 osteosclerosis +MONDO:0009032 cranioectodermal dysplasia MONDO:0002254 DOID:0050577 DOID:225 syndromic disease +MONDO:0009032 cranioectodermal dysplasia MONDO:0006025 DOID:0050577 DOID:0050737 autosomal recessive disease +MONDO:0009039 Baller-Gerold syndrome MONDO:0001411 DOID:0050654 DOID:11971 synostosis +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type MONDO:0016175 DOID:0070141 DOID:3144 cutis laxa +MONDO:0009067 cystinuria MONDO:0004736 DOID:9266 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009067 cystinuria MONDO:0005240 DOID:9266 DOID:557 kidney disorder +MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0004069 DOID:3762 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0009070 D-glyceric aciduria MONDO:0019052 DOID:0111626 DOID:655 inborn errors of metabolism +MONDO:0009105 trichohepatoenteric syndrome MONDO:0002254 DOID:0111414 DOID:225 syndromic disease +MONDO:0009109 lysinuric protein intolerance MONDO:0004736 DOID:0060439 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009110 dicarboxylic aminoaciduria MONDO:0004736 DOID:0060650 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0019214 DOID:0111633 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009115 congenital lactase deficiency MONDO:0019214 DOID:0111646 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009123 orthostatic hypotension 1 MONDO:0005071 DOID:0090145 DOID:863 nervous system disorder +MONDO:0009123 orthostatic hypotension 1 MONDO:0019052 DOID:0090145 DOID:655 inborn errors of metabolism +MONDO:0009124 Dubowitz syndrome MONDO:0002254 DOID:14796 DOID:225 syndromic disease +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0006025 DOID:0050997 DOID:0050737 autosomal recessive disease +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0005516 DOID:0090032 DOID:2256 osteochondrodysplasia +MONDO:0009141 torsion dystonia 2 MONDO:0003441 DOID:0090038 DOID:543 dystonic disorder +MONDO:0009143 Meier-Gorlin syndrome 1 MONDO:0006025 DOID:0080512 DOID:0050737 autosomal recessive disease +MONDO:0009144 Ebstein anomaly MONDO:0000471 DOID:14289 DOID:0050826 tricuspid valve disorder +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0019287 DOID:0111647 DOID:2121 ectodermal dysplasia syndrome +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0006025 DOID:0111665 DOID:0050737 autosomal recessive disease +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0016535 DOID:0111665 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0002254 DOID:0060773 DOID:225 syndromic disease +MONDO:0009153 ectopia lentis et pupillae MONDO:0005328 DOID:0111648 DOID:5614 eye disorder +MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 MONDO:0018612 DOID:0070125 DOID:0050328 congenital hypothyroidism +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0002254 DOID:12714 DOID:225 syndromic disease +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0006025 DOID:0090017 DOID:0050737 autosomal recessive disease +MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0002254 DOID:0111668 DOID:225 syndromic disease +MONDO:0009210 congenital factor V deficiency MONDO:0001531 DOID:2216 DOID:1247 blood coagulation disease +MONDO:0009211 congenital factor VII deficiency MONDO:0001531 DOID:2215 DOID:1247 blood coagulation disease +MONDO:0009212 congenital factor X deficiency MONDO:0001531 DOID:2222 DOID:1247 blood coagulation disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0019245 DOID:0050464 DOID:9455 lysosomal lipid storage disorder +MONDO:0009232 Fuhrmann syndrome MONDO:0005497 DOID:0090067 DOID:0080006 bone development disease +MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0001531 DOID:0111676 DOID:1247 blood coagulation disease +MONDO:0009235 familial benign flecked retina MONDO:0005283 DOID:0111677 DOID:5679 retinal disorder +MONDO:0009249 hereditary fructose intolerance MONDO:0019214 DOID:9869 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:0019214 DOID:5204 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009252 essential fructosuria MONDO:0019214 DOID:0111680 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009254 fucosidosis MONDO:0002561 DOID:14500 DOID:3211 lysosomal storage disease +MONDO:0009263 GAPO syndrome MONDO:0002254 DOID:0112249 DOID:225 syndromic disease +MONDO:0009277 glaucoma 3A MONDO:0020366 DOID:11211 DOID:11212 congenital glaucoma +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0019052 DOID:0060358 DOID:655 inborn errors of metabolism +MONDO:0009288 glycogen storage disease Ib MONDO:0002413 DOID:0081330 DOID:0081329 glycogen storage disease I +MONDO:0009288 glycogen storage disease Ib MONDO:0002413 DOID:0081331 DOID:0081329 glycogen storage disease I +MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0015131 DOID:0112253 DOID:0111962 combined immunodeficiency +MONDO:0009315 congenital factor XII deficiency MONDO:0001531 DOID:2231 DOID:1247 blood coagulation disease +MONDO:0009324 Hartnup disease MONDO:0004736 DOID:1060 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009341 Mowat-Wilson syndrome MONDO:0002254 DOID:0060485 DOID:225 syndromic disease +MONDO:0009354 methylcobalamin deficiency type cblE MONDO:0004736 DOID:0112255 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009354 methylcobalamin deficiency type cblE MONDO:0006025 DOID:0112255 DOID:0050737 autosomal recessive disease +MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0004736 DOID:0112257 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:0004739 DOID:9280 DOID:9267 urea cycle disorder +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0004739 DOID:0112258 DOID:9267 urea cycle disorder +MONDO:0009388 hyperlysinemia MONDO:0004736 DOID:9274 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009393 ornithine translocase deficiency MONDO:0004736 DOID:0050720 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009412 scurvy MONDO:0006873 DOID:13724 DOID:5113 nutritional deficiency disease +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria MONDO:0005520 DOID:0050947 DOID:10609 rickets +MONDO:0009439 autosomal recessive congenital ichthyosis 2 MONDO:0017265 DOID:0060710 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0017265 DOID:0060713 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0009475 isovaleric acidemia MONDO:0000688 DOID:14753 DOID:0060159 inborn organic aciduria +MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia MONDO:0018555 DOID:0090092 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0009490 Papillon-Lefevre disease MONDO:0006999 DOID:3389 DOID:1091 tooth disorder +MONDO:0009490 Papillon-Lefevre disease MONDO:0019287 DOID:3389 DOID:2121 ectodermal dysplasia syndrome +MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0018158 DOID:0080128 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0004736 DOID:0070541 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009525 split hand-foot malformation 3 MONDO:0000762 DOID:0090025 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0009528 chylomicron retention disease MONDO:0002525 DOID:0060357 DOID:3146 inherited lipid metabolism disorder +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:0018100 DOID:0060881 DOID:0060879 familial primary hypomagnesemia +MONDO:0009550 renal hypomagnesemia 3 MONDO:0018100 DOID:0060880 DOID:0060879 familial primary hypomagnesemia +MONDO:0009552 mal de Meleda MONDO:0006590 DOID:0060862 DOID:3390 palmoplantar keratosis +MONDO:0009561 alpha-mannosidosis MONDO:0002561 DOID:3413 DOID:3211 lysosomal storage disease +MONDO:0009562 beta-mannosidosis MONDO:0002561 DOID:3633 DOID:3211 lysosomal storage disease +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0006025 DOID:0080195 DOID:0050737 autosomal recessive disease +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0004736 DOID:0060949 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009609 methylcobalamin deficiency type cblG MONDO:0004736 DOID:0112256 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009609 methylcobalamin deficiency type cblG MONDO:0006025 DOID:0112256 DOID:0050737 autosomal recessive disease +MONDO:0009613 methylmalonic aciduria, cblA type MONDO:0002012 DOID:0060742 DOID:14749 methylmalonic acidemia +MONDO:0009614 methylmalonic aciduria, cblB type MONDO:0002012 DOID:0060743 DOID:14749 methylmalonic acidemia +MONDO:0009635 microvillus inclusion disease MONDO:0000824 DOID:0060775 DOID:0060774 congenital diarrhea +MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0018158 DOID:0080121 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0009637 inborn mitochondrial myopathy MONDO:0005336 DOID:699 DOID:423 myopathy +MONDO:0009650 mucolipidosis type II MONDO:0019248 DOID:0080070 DOID:0080488 mucolipidosis +MONDO:0009652 GNPTG-mucolipidosis MONDO:0019248 DOID:0080678 DOID:0080488 mucolipidosis +MONDO:0009653 mucolipidosis type IV MONDO:0019248 DOID:0080490 DOID:0080488 mucolipidosis +MONDO:0009688 myasthenia gravis MONDO:0002977 DOID:437 DOID:438 autoimmune disorder of the nervous system +MONDO:0009690 congenital myasthenic syndrome 10 MONDO:0018940 DOID:0110668 DOID:3635 congenital myasthenic syndrome +MONDO:0009692 primary myelofibrosis MONDO:0005170 DOID:4971 DOID:0070004 myeloid neoplasm +MONDO:0009693 plasma cell myeloma MONDO:0004805 DOID:9538 DOID:9500 leukocyte disorder +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0002525 DOID:0090129 DOID:3146 inherited lipid metabolism disorder +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0019952 DOID:0080102 DOID:0081337 congenital myopathy +MONDO:0009725 nemaline myopathy 2 MONDO:0018958 DOID:0110928 DOID:3191 nemaline myopathy +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0002254 DOID:0060913 DOID:225 syndromic disease +MONDO:0009735 Netherton syndrome MONDO:0005093 DOID:0050474 DOID:37 skin disorder +MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000421 DOID:0080076 DOID:0050721 inborn serine deficiency +MONDO:0009737 galactosialidosis MONDO:0002561 DOID:0080540 DOID:3211 lysosomal storage disease +MONDO:0009738 sialidosis type 2 MONDO:0019248 DOID:3343 DOID:0080488 mucolipidosis +MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0018158 DOID:0080125 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0009749 giant axonal neuropathy 1 MONDO:0004183 DOID:0090068 DOID:7319 axonal neuropathy +MONDO:0009756 Niemann-Pick disease type A MONDO:0001982 DOID:0070111 DOID:14504 Niemann-Pick disease +MONDO:0009757 Niemann-Pick disease, type C1 MONDO:0001982 DOID:0070113 DOID:14504 Niemann-Pick disease +MONDO:0009760 Norman-Roberts syndrome MONDO:0018838 DOID:0060902 DOID:0050453 lissencephaly spectrum disorders +MONDO:0009775 Oguchi disease-1 MONDO:0016293 DOID:0110712 DOID:0050534 congenital stationary night blindness +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:0005181 DOID:0111522 DOID:12558 progressive external ophthalmoplegia +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:0006025 DOID:0111522 DOID:0050737 autosomal recessive disease +MONDO:0009786 optic atrophy 6 MONDO:0003608 DOID:0111435 DOID:5723 optic atrophy +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 DOID:0110339 DOID:12347 osteogenesis imperfecta +MONDO:0009805 osteogenesis imperfecta type 9 MONDO:0019019 DOID:0110349 DOID:12347 osteogenesis imperfecta +MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0006025 DOID:0110942 DOID:0050737 autosomal recessive disease +MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0017198 DOID:0110942 DOID:13533 osteopetrosis +MONDO:0009816 autosomal recessive osteopetrosis 2 MONDO:0006025 DOID:0110943 DOID:0050737 autosomal recessive disease +MONDO:0009816 autosomal recessive osteopetrosis 2 MONDO:0017198 DOID:0110943 DOID:13533 osteopetrosis +MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO:0006025 DOID:0110939 DOID:0050737 autosomal recessive disease +MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO:0017198 DOID:0110939 DOID:13533 osteopetrosis +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0006025 DOID:0110941 DOID:0050737 autosomal recessive disease +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0017198 DOID:0110941 DOID:13533 osteopetrosis +MONDO:0009831 malignant pancreatic neoplasm MONDO:0002356 DOID:1793 DOID:26 pancreas disorder +MONDO:0009835 subacute sclerosing panencephalitis MONDO:0005108 DOID:8970 DOID:934 viral infectious disease +MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO:0019046 DOID:0060790 DOID:0060786 leukodystrophy +MONDO:0009855 d-bifunctional protein deficiency MONDO:0019053 DOID:0090031 DOID:906 peroxisomal disease +MONDO:0009857 persistent Mullerian duct syndrome MONDO:0005039 DOID:0050791 DOID:15 reproductive system disorder +MONDO:0009861 phenylketonuria MONDO:0004736 DOID:9281 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0009862 dihydropteridine reductase deficiency MONDO:0006025 DOID:0081130 DOID:0050737 autosomal recessive disease +MONDO:0009863 BH4-deficient hyperphenylalaninemia A MONDO:0006025 DOID:0090106 DOID:0050737 autosomal recessive disease +MONDO:0009877 Laron syndrome MONDO:0002254 DOID:9521 DOID:225 syndromic disease +MONDO:0009885 Scott syndrome MONDO:0001531 DOID:0111052 DOID:1247 blood coagulation disease +MONDO:0009891 acquired polycythemia vera MONDO:0020076 DOID:8997 DOID:2226 myeloproliferative neoplasm +MONDO:0009902 cutaneous porphyria MONDO:0005093 DOID:13271 DOID:37 skin disorder +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0006025 DOID:0081131 DOID:0050737 autosomal recessive disease +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0015333 DOID:0081333 DOID:0081332 progeroid syndrome +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0019053 DOID:0050797 DOID:906 peroxisomal disease +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0003900 DOID:2738 DOID:65 connective tissue disorder +MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0005027 DOID:0080768 DOID:1826 epilepsy +MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0019214 DOID:3651 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0006025 DOID:0070255 DOID:0050737 autosomal recessive disease +MONDO:0009959 peroxisome biogenesis disorder type 3B MONDO:0006025 DOID:0081241 DOID:0050737 autosomal recessive disease +MONDO:0009959 peroxisome biogenesis disorder type 3B MONDO:0019234 DOID:0081241 DOID:0080377 peroxisome biogenesis disorder +MONDO:0009973 reticular dysgenesis MONDO:0015974 DOID:0060020 DOID:627 severe combined immunodeficiency +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 MONDO:0015540 DOID:0110921 DOID:0050120 hemophagocytic syndrome +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0005093 DOID:2732 DOID:37 skin disorder +MONDO:0010008 sarcosinemia MONDO:0004736 DOID:0112307 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0010024 Beemer-Langer syndrome MONDO:0002254 DOID:9249 DOID:225 syndromic disease +MONDO:0010028 sialuria MONDO:0002561 DOID:3659 DOID:3211 lysosomal storage disease +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0002254 DOID:14501 DOID:225 syndromic disease +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0002525 DOID:14692 DOID:3146 inherited lipid metabolism disorder +MONDO:0010036 congenital secretory sodium diarrhea 3 MONDO:0000249 DOID:0060781 DOID:0050129 secretory diarrhea +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0000426 DOID:0110770 DOID:0050736 autosomal dominant disease +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0019064 DOID:0110770 DOID:2476 hereditary spastic paraplegia +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0019064 DOID:0110768 DOID:2476 hereditary spastic paraplegia +MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0019064 DOID:0110774 DOID:2476 hereditary spastic paraplegia +MONDO:0010056 spinal muscular atrophy, type IV MONDO:0001516 DOID:0050529 DOID:12377 spinal muscular atrophy +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0006025 DOID:0080126 DOID:0050737 autosomal recessive disease +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0018158 DOID:0080126 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0015244 DOID:0111612 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0010078 spondyloperipheral dysplasia MONDO:0005516 DOID:0112195 DOID:2256 osteochondrodysplasia +MONDO:0010089 isolated sulfite oxidase deficiency MONDO:0019052 DOID:0111270 DOID:655 inborn errors of metabolism +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency MONDO:0019254 DOID:14218 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0010138 thyrotoxicosis MONDO:0003240 DOID:7997 DOID:50 thyroid gland disorder +MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO:0018612 DOID:0070123 DOID:0050328 congenital hypothyroidism +MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO:0018612 DOID:0070126 DOID:0050328 congenital hypothyroidism +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0002254 DOID:0111271 DOID:225 syndromic disease +MONDO:0010156 Troyer syndrome MONDO:0019064 DOID:0050886 DOID:2476 hereditary spastic paraplegia +MONDO:0010160 tyrosinemia type II MONDO:0005093 DOID:0050725 DOID:37 skin disorder +MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0018772 DOID:0060376 DOID:0050777 Joubert syndrome +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:0002012 DOID:0050717 DOID:14749 methylmalonic acidemia +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0002012 DOID:0050715 DOID:14749 methylmalonic acidemia +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:0002012 DOID:0050716 DOID:14749 methylmalonic acidemia +MONDO:0010186 vitamin D-dependent rickets, type 2A MONDO:0024299 DOID:0080884 DOID:0080883 vitamin D-dependent rickets +MONDO:0010192 Waardenburg syndrome type 4A MONDO:0018094 DOID:0110953 DOID:9258 Waardenburg syndrome +MONDO:0010208 wrinkly skin syndrome MONDO:0006025 DOID:0112171 DOID:0050737 autosomal recessive disease +MONDO:0010221 CHIME syndrome MONDO:0002254 DOID:0112152 DOID:225 syndromic disease +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0018838 DOID:0112239 DOID:0050453 lissencephaly spectrum disorders +MONDO:0010241 congenital stationary night blindness 2A MONDO:0016293 DOID:0110871 DOID:0050534 congenital stationary night blindness +MONDO:0010245 X-linked cone-rod dystrophy 2 MONDO:0015993 DOID:0111006 DOID:0050572 cone-rod dystrophy +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0000004 DOID:0080156 DOID:10493 adrenocortical insufficiency +MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 MONDO:0002254 DOID:0080342 DOID:225 syndromic disease +MONDO:0010281 Danon disease MONDO:0002561 DOID:0050437 DOID:3211 lysosomal storage disease +MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0000762 DOID:0060799 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0019287 DOID:0081077 DOID:2121 ectodermal dysplasia syndrome +MONDO:0010296 immunodeficiency 61 MONDO:0002211 DOID:0111999 DOID:2115 B cell deficiency +MONDO:0010298 Lesch-Nyhan syndrome MONDO:0019254 DOID:1919 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0019052 DOID:0112127 DOID:655 inborn errors of metabolism +MONDO:0010302 Ito hypomelanosis MONDO:0005093 DOID:3156 DOID:37 skin disorder +MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0002933 DOID:0060886 DOID:4254 osteosclerosis +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0015974 DOID:0060013 DOID:627 severe combined immunodeficiency +MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO:0020119 DOID:0060806 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0010335 X-linked cone-rod dystrophy 3 MONDO:0015993 DOID:0111007 DOID:0050572 cone-rod dystrophy +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0000425 DOID:0112122 DOID:0050735 X-linked disease +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0005027 DOID:0112122 DOID:1826 epilepsy +MONDO:0010349 ovarian dysgenesis 2 MONDO:0005387 DOID:0080861 DOID:5426 primary ovarian failure +MONDO:0010350 premature ovarian failure 2A MONDO:0005387 DOID:0080858 DOID:5426 primary ovarian failure +MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0002254 DOID:0050631 DOID:225 syndromic disease +MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO:0005520 DOID:0080353 DOID:10609 rickets +MONDO:0010371 Aland island eye disease MONDO:0005328 DOID:0050630 DOID:5614 eye disorder +MONDO:0010373 premature ovarian failure 2B MONDO:0005387 DOID:0080859 DOID:5426 primary ovarian failure +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0005244 DOID:0111741 DOID:870 peripheral neuropathy +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0016537 DOID:0060706 DOID:0060704 lymphoproliferative syndrome +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0019052 DOID:0111260 DOID:655 inborn errors of metabolism +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MONDO:0005560 DOID:0111932 DOID:936 brain disorder +MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0000761 DOID:0060427 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0016830 DOID:0070251 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset MONDO:0005336 DOID:0080687 DOID:423 myopathy +MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0019064 DOID:0110785 DOID:2476 hereditary spastic paraplegia +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0015977 DOID:14179 DOID:2583 agammaglobulinemia +MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0000762 DOID:0060461 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect MONDO:0002305 DOID:0111899 DOID:2452 thrombophilia +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0002280 DOID:0112156 DOID:2355 anemia +MONDO:0010457 Ogden syndrome MONDO:0000425 DOID:0050781 DOID:0050735 X-linked disease +MONDO:0010457 Ogden syndrome MONDO:0002254 DOID:0050781 DOID:225 syndromic disease +MONDO:0010459 amyotrophic lateral sclerosis type 15 MONDO:0004976 DOID:0060206 DOID:332 amyotrophic lateral sclerosis +MONDO:0010481 angioedema MONDO:0005093 DOID:1558 DOID:37 skin disorder +MONDO:0010498 MEND syndrome MONDO:0002525 DOID:0111865 DOID:3146 inherited lipid metabolism disorder +MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis MONDO:0002254 DOID:0111859 DOID:225 syndromic disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0002254 DOID:9169 DOID:225 syndromic disease +MONDO:0010521 amelogenesis imperfecta type 1E MONDO:0019507 DOID:0110058 DOID:2187 amelogenesis imperfecta +MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0015194 DOID:0050554 DOID:8955 sideroblastic anemia +MONDO:0010542 dilated cardiomyopathy 3B MONDO:0005021 DOID:0110461 DOID:12930 dilated cardiomyopathy +MONDO:0010544 cataract 40 MONDO:0005129 DOID:0110272 DOID:83 cataract +MONDO:0010556 X-linked chondrodysplasia punctata MONDO:0019701 DOID:0060292 DOID:2581 chondrodysplasia punctata +MONDO:0010559 MASA syndrome MONDO:0019064 DOID:0060246 DOID:2476 hereditary spastic paraplegia +MONDO:0010561 Coffin-Lowry syndrome MONDO:0002254 DOID:3783 DOID:225 syndromic disease +MONDO:0010564 red-green color blindness MONDO:0001703 DOID:13909 DOID:13399 color vision disorder +MONDO:0010566 X-linked cone-rod dystrophy 1 MONDO:0015993 DOID:0111008 DOID:0050572 cone-rod dystrophy +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0018233 DOID:0111784 DOID:0111782 otopalatodigital syndrome spectrum disorder +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0007179 DOID:0090110 DOID:417 autoimmune disease +MONDO:0010584 dyskeratosis congenita, X-linked MONDO:0015780 DOID:0070025 DOID:2729 dyskeratosis congenita +MONDO:0010592 focal dermal hypoplasia MONDO:0002254 DOID:2120 DOID:225 syndromic disease +MONDO:0010598 glycogen storage disease IXa1 MONDO:0002412 DOID:2751 DOID:2747 disorder of glycogen metabolism +MONDO:0010602 hemophilia A MONDO:0001531 DOID:12134 DOID:1247 blood coagulation disease +MONDO:0010604 hemophilia B MONDO:0001531 DOID:12259 DOID:1247 blood coagulation disease +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland MONDO:0001220 DOID:0111388 DOID:11199 hypoparathyroidism +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0005520 DOID:0050445 DOID:10609 rickets +MONDO:0010621 CHILD syndrome MONDO:0002254 DOID:0111822 DOID:225 syndromic disease +MONDO:0010622 recessive X-linked ichthyosis MONDO:0019269 DOID:1700 DOID:1697 ichthyosis +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO:0018555 DOID:0090094 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0010650 Melnick-Needles syndrome MONDO:0000425 DOID:0111788 DOID:0050735 X-linked disease +MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:0020119 DOID:0080985 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0002012 DOID:0111814 DOID:14749 methylmalonic acidemia +MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 MONDO:0020119 DOID:0080982 DOID:0060309 X-linked syndromic intellectual disability +MONDO:0010669 syndactyly type 8 MONDO:0021002 DOID:0111813 DOID:11193 syndactyly +MONDO:0010671 microphthalmia, syndromic 1 MONDO:0000425 DOID:0111799 DOID:0050735 X-linked disease +MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0002254 DOID:0111875 DOID:225 syndromic disease +MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:0005336 DOID:0050760 DOID:423 myopathy +MONDO:0010686 N syndrome MONDO:0002254 DOID:0050769 DOID:225 syndromic disease +MONDO:0010690 congenital stationary night blindness 1A MONDO:0016293 DOID:0110870 DOID:0050534 congenital stationary night blindness +MONDO:0010698 optic atrophy 2 MONDO:0003608 DOID:0111443 DOID:5723 optic atrophy +MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0004739 DOID:9271 DOID:9267 urea cycle disorder +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0018233 DOID:0111783 DOID:0111782 otopalatodigital syndrome spectrum disorder +MONDO:0010706 premature ovarian failure 1 MONDO:0005387 DOID:0080857 DOID:5426 primary ovarian failure +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0002254 DOID:0111781 DOID:225 syndromic disease +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0005570 DOID:0111767 DOID:74 hematologic disorder +MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO:0002869 DOID:0111765 DOID:4079 heart valve disorder +MONDO:0010763 spermatogenic failure, Y-linked, 1 MONDO:0000761 DOID:0070186 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0010771 histiocytoid cardiomyopathy MONDO:0000591 DOID:0080198 DOID:0060036 intrinsic cardiomyopathy +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0002135 DOID:705 DOID:1891 optic nerve disorder +MONDO:0010794 NARP syndrome MONDO:0004069 DOID:0111273 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B MONDO:0024299 DOID:0080887 DOID:0080883 vitamin D-dependent rickets +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0016295 DOID:0110723 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0010841 Waardenburg syndrome type 2B MONDO:0018094 DOID:0110947 DOID:9258 Waardenburg syndrome +MONDO:0010847 spinocerebellar ataxia type 4 MONDO:0020380 DOID:0050957 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0010848 spinocerebellar ataxia type 5 MONDO:0020380 DOID:0050882 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0010857 semantic dementia MONDO:0019806 DOID:0081391 DOID:0081388 primary progressive aphasia +MONDO:0010868 rippling muscle disease 1 MONDO:0003939 DOID:0070308 DOID:66 muscle tissue disorder +MONDO:0010870 tibial muscular dystrophy MONDO:0000426 DOID:0111078 DOID:0050736 autosomal dominant disease +MONDO:0010870 tibial muscular dystrophy MONDO:0018949 DOID:0111078 DOID:11720 distal myopathy +MONDO:0010886 2q37 microdeletion syndrome MONDO:0000761 DOID:0111704 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0010888 adenomyosis MONDO:0002654 DOID:288 DOID:345 uterine disorder +MONDO:0010906 orofacial cleft 11 MONDO:0000358 DOID:0080404 DOID:0050567 orofacial cleft +MONDO:0010907 familial hypertryptophanemia MONDO:0004736 DOID:0111703 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0010913 Caroli disease MONDO:0002887 DOID:0050876 DOID:4138 bile duct disorder +MONDO:0010927 orofacial cleft 3 MONDO:0000358 DOID:0080397 DOID:0050567 orofacial cleft +MONDO:0010931 vitamin D-dependent rickets, type 2B MONDO:0024299 DOID:0080885 DOID:0080883 vitamin D-dependent rickets +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0004976 DOID:0111227 DOID:332 amyotrophic lateral sclerosis +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0017276 DOID:0111227 DOID:9255 frontotemporal dementia +MONDO:0010948 cataract 10 multiple types MONDO:0005129 DOID:0110258 DOID:83 cataract +MONDO:0010951 dilated cardiomyopathy 1B MONDO:0005021 DOID:0110443 DOID:12930 dilated cardiomyopathy +MONDO:0010958 cardiac arrhythmia, ankyrin-B-related MONDO:0002442 DOID:0111701 DOID:2843 long QT syndrome +MONDO:0010958 cardiac arrhythmia, ankyrin-B-related MONDO:0005267 DOID:0111700 DOID:114 heart disorder +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0006590 DOID:0050428 DOID:3390 palmoplantar keratosis +MONDO:0010974 nephrotic syndrome, type 2 MONDO:0002350 DOID:0080379 DOID:2590 familial nephrotic syndrome +MONDO:0010979 Timothy syndrome MONDO:0002254 DOID:0060173 DOID:225 syndromic disease +MONDO:0010983 dystonia 9 MONDO:0003441 DOID:0090044 DOID:543 dystonic disorder +MONDO:0011003 dilated cardiomyopathy 1E MONDO:0005021 DOID:0110433 DOID:12930 dilated cardiomyopathy +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0000426 DOID:0110824 DOID:0050736 autosomal dominant disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0019064 DOID:0110824 DOID:2476 hereditary spastic paraplegia +MONDO:0011015 cataract 24 MONDO:0005129 DOID:0110257 DOID:83 cataract +MONDO:0011022 Potocki-Shaffer syndrome MONDO:0000761 DOID:0111687 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011025 Cayman type cerebellar ataxia MONDO:0015244 DOID:0060694 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0000426 DOID:0111683 DOID:0050736 autosomal dominant disease +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:0002254 DOID:0081441 DOID:225 syndromic disease +MONDO:0011057 cerebrovascular disorder MONDO:0005385 DOID:6713 DOID:178 vascular disorder +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0015974 DOID:0090013 DOID:627 severe combined immunodeficiency +MONDO:0011088 congenital myasthenic syndrome 1A MONDO:0018940 DOID:0110663 DOID:3635 congenital myasthenic syndrome +MONDO:0011101 peroxisome biogenesis disorder 1B MONDO:0006025 DOID:0081240 DOID:0050737 autosomal recessive disease +MONDO:0011101 peroxisome biogenesis disorder 1B MONDO:0019234 DOID:0081240 DOID:0080377 peroxisome biogenesis disorder +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0016295 DOID:0110729 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0011147 chromosome 18q deletion syndrome MONDO:0000761 DOID:0060407 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011151 exudative vitreoretinopathy 4 MONDO:0019516 DOID:0111411 DOID:0050535 exudative vitreoretinopathy +MONDO:0011152 PHGDH deficiency MONDO:0000421 DOID:0050722 DOID:0050721 inborn serine deficiency +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 MONDO:0005803 DOID:0070218 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0011162 cataract 14 multiple types MONDO:0005129 DOID:0110253 DOID:83 cataract +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0018100 DOID:0060883 DOID:0060879 familial primary hypomagnesemia +MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 MONDO:0016587 DOID:0110072 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 MONDO:0016587 DOID:0110073 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011194 Alzheimer disease 5 MONDO:0000426 DOID:0110037 DOID:0050736 autosomal dominant disease +MONDO:0011194 Alzheimer disease 5 MONDO:0004975 DOID:0110037 DOID:10652 Alzheimer disease +MONDO:0011196 amyotrophic lateral sclerosis type 5 MONDO:0004976 DOID:0060197 DOID:332 amyotrophic lateral sclerosis +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0004976 DOID:0060196 DOID:332 amyotrophic lateral sclerosis +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0015974 DOID:0090012 DOID:627 severe combined immunodeficiency +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine MONDO:0003900 DOID:0060887 DOID:65 connective tissue disorder +MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0005803 DOID:0070216 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0011242 Bartter disease type 4A MONDO:0015231 DOID:0110145 DOID:445 Bartter syndrome +MONDO:0011249 torsion dystonia with onset in infancy MONDO:0000476 DOID:0090058 DOID:0050835 generalized dystonia +MONDO:0011271 rigid spine muscular dystrophy 1 MONDO:0019950 DOID:0110633 DOID:0050557 congenital muscular dystrophy +MONDO:0011274 Muenke syndrome MONDO:0015469 DOID:0060703 DOID:2340 craniosynostosis +MONDO:0011303 focal segmental glomerulosclerosis 1 MONDO:0100313 DOID:0111128 DOID:1312 focal segmental glomerulosclerosis +MONDO:0011304 cerebral cavernous malformation 2 MONDO:0000820 DOID:0060670 DOID:0060669 cerebral cavernous malformation +MONDO:0011305 cerebral cavernous malformation 3 MONDO:0000820 DOID:0060671 DOID:0060669 cerebral cavernous malformation +MONDO:0011326 citrullinemia, type II, adult-onset MONDO:0015991 DOID:0070342 DOID:9273 citrullinemia +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0005559 DOID:0081294 DOID:1289 neurodegenerative disease +MONDO:0011330 spinocerebellar ataxia type 10 MONDO:0020380 DOID:0050960 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 MONDO:0015540 DOID:0110924 DOID:0050120 hemophagocytic syndrome +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 MONDO:0015540 DOID:0110922 DOID:0050120 hemophagocytic syndrome +MONDO:0011338 Omenn syndrome MONDO:0015974 DOID:0060010 DOID:627 severe combined immunodeficiency +MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0019064 DOID:0110823 DOID:2476 hereditary spastic paraplegia +MONDO:0011359 acromelic frontonasal dysostosis MONDO:0018234 DOID:0060342 DOID:1934 dysostosis +MONDO:0011377 long QT syndrome 3 MONDO:0002442 DOID:0110646 DOID:2843 long QT syndrome +MONDO:0011390 focal segmental glomerulosclerosis 2 MONDO:0100313 DOID:0111129 DOID:1312 focal segmental glomerulosclerosis +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0020380 DOID:0050968 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011400 dilated cardiomyopathy 1G MONDO:0005021 DOID:0110430 DOID:12930 dilated cardiomyopathy +MONDO:0011401 Alzheimer disease without neurofibrillary tangles MONDO:0004975 DOID:0110048 DOID:10652 Alzheimer disease +MONDO:0011405 poikiloderma with neutropenia MONDO:0005093 DOID:0060551 DOID:37 skin disorder +MONDO:0011425 dilated cardiomyopathy 1H MONDO:0005021 DOID:0110429 DOID:12930 dilated cardiomyopathy +MONDO:0011426 aceruloplasminemia MONDO:0002279 DOID:0050711 DOID:2351 iron metabolism disease +MONDO:0011426 aceruloplasminemia MONDO:0019052 DOID:0050711 DOID:655 inborn errors of metabolism +MONDO:0011439 spinocerebellar ataxia type 12 MONDO:0020380 DOID:0050962 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0019064 DOID:0110764 DOID:2476 hereditary spastic paraplegia +MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 MONDO:0016587 DOID:0110074 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 MONDO:0016587 DOID:0110075 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0002254 DOID:0080519 DOID:225 syndromic disease +MONDO:0011464 spinocerebellar ataxia type 11 MONDO:0020380 DOID:0050961 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011482 dilated cardiomyopathy 1I MONDO:0005021 DOID:0110431 DOID:12930 dilated cardiomyopathy +MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0019064 DOID:0110765 DOID:2476 hereditary spastic paraplegia +MONDO:0011514 tricuspid atresia MONDO:0000471 DOID:0080169 DOID:0050826 tricuspid valve disorder +MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0020380 DOID:0050963 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011536 optic atrophy 4 MONDO:0003608 DOID:0111440 DOID:5723 optic atrophy +MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0020380 DOID:0050964 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011541 dilated cardiomyopathy 1J MONDO:0005021 DOID:0110440 DOID:12930 dilated cardiomyopathy +MONDO:0011547 cataract 31 multiple types MONDO:0005129 DOID:0110265 DOID:83 cataract +MONDO:0011561 Alzheimer disease 6 MONDO:0004975 DOID:0110038 DOID:10652 Alzheimer disease +MONDO:0011567 dilated cardiomyopathy 1K MONDO:0005021 DOID:0110437 DOID:12930 dilated cardiomyopathy +MONDO:0011579 late-onset retinal degeneration MONDO:0004580 DOID:0060869 DOID:8466 retinal degeneration +MONDO:0011587 cataract 25 MONDO:0005129 DOID:0110254 DOID:83 cataract +MONDO:0011591 cataract 26 multiple types MONDO:0005129 DOID:0110246 DOID:83 cataract +MONDO:0011600 congenital myasthenic syndrome 4A MONDO:0018940 DOID:0110678 DOID:3635 congenital myasthenic syndrome +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0015991 DOID:0070341 DOID:9273 citrullinemia +MONDO:0011603 GNE myopathy MONDO:0005336 DOID:0080718 DOID:423 myopathy +MONDO:0011612 glycine encephalopathy MONDO:0004736 DOID:9268 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0011628 propionic acidemia MONDO:0000688 DOID:14701 DOID:0060159 inborn organic aciduria +MONDO:0011632 amyotrophic lateral sclerosis type 21 MONDO:0004976 DOID:0060212 DOID:332 amyotrophic lateral sclerosis +MONDO:0011647 Alzheimer disease 7 MONDO:0004975 DOID:0110039 DOID:10652 Alzheimer disease +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0000761 DOID:0060858 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011671 Huntington disease-like 2 MONDO:0005559 DOID:0090104 DOID:1289 neurodegenerative disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0000426 DOID:0110197 DOID:0050736 autosomal dominant disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0018778 DOID:0110197 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0000426 DOID:0110202 DOID:0050736 autosomal dominant disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0018778 DOID:0110202 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0011680 autosomal recessive congenital ichthyosis 3 MONDO:0017265 DOID:0060711 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0011686 DNA ligase IV deficiency MONDO:0015131 DOID:0060021 DOID:628 combined immunodeficiency +MONDO:0011691 amyotrophic lateral sclerosis type 3 MONDO:0004976 DOID:0060195 DOID:332 amyotrophic lateral sclerosis +MONDO:0011694 spinocerebellar ataxia type 15/16 MONDO:0020380 DOID:0050965 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011697 Waardenburg syndrome type 2C MONDO:0018094 DOID:0110951 DOID:9258 Waardenburg syndrome +MONDO:0011702 dilated cardiomyopathy 1L MONDO:0005021 DOID:0110436 DOID:12930 dilated cardiomyopathy +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0017279 DOID:0060556 DOID:0060894 young-onset Parkinson disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0005803 DOID:0070217 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0000087 DOID:0080922 DOID:0080918 polymicrogyria +MONDO:0011740 Carney-Stratakis syndrome MONDO:0002254 DOID:0080533 DOID:225 syndromic disease +MONDO:0011743 Alzheimer disease 4 MONDO:0000426 DOID:0110040 DOID:0050736 autosomal dominant disease +MONDO:0011743 Alzheimer disease 4 MONDO:0004975 DOID:0110040 DOID:10652 Alzheimer disease +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018910 DOID:0070095 DOID:0050632 oculocutaneous albinism +MONDO:0011777 Alzheimer disease 8 MONDO:0004975 DOID:0110041 DOID:10652 Alzheimer disease +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0020380 DOID:0050967 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0019064 DOID:0110772 DOID:2476 hereditary spastic paraplegia +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0015244 DOID:0090115 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0011808 cataract 27 MONDO:0005129 DOID:0110233 DOID:83 cataract +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0015244 DOID:0111611 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0020380 DOID:0050970 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011830 lissencephaly due to LIS1 mutation MONDO:0018838 DOID:0112237 DOID:0050453 lissencephaly spectrum disorders +MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 MONDO:0016587 DOID:0110076 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0020380 DOID:0050972 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011834 spinocerebellar ataxia type 18 MONDO:0020380 DOID:0050969 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0004069 DOID:0111276 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0011838 Bothnia retinal dystrophy MONDO:0019118 DOID:0050683 DOID:8501 inherited retinal dystrophy +MONDO:0011840 dilated cardiomyopathy 1M MONDO:0005021 DOID:0110449 DOID:12930 dilated cardiomyopathy +MONDO:0011849 psoriatic arthritis MONDO:0005578 DOID:9008 DOID:848 arthritic joint disease +MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0019064 DOID:0110775 DOID:2476 hereditary spastic paraplegia +MONDO:0011866 pontocerebellar hypoplasia type 1A MONDO:0006025 DOID:0060265 DOID:0050737 autosomal recessive disease +MONDO:0011871 Niemann-Pick disease type B MONDO:0001982 DOID:0070112 DOID:14504 Niemann-Pick disease +MONDO:0011873 Niemann-Pick disease, type C2 MONDO:0001982 DOID:0070114 DOID:14504 Niemann-Pick disease +MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:0000426 DOID:0110937 DOID:0050736 autosomal dominant disease +MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:0017198 DOID:0110937 DOID:13533 osteopetrosis +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B MONDO:0015362 DOID:0111202 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0011886 torsion dystonia 13 MONDO:0003441 DOID:0090037 DOID:543 dystonic disorder +MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0000426 DOID:0110158 DOID:0050736 autosomal dominant disease +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 DOID:0060794 DOID:0060786 leukodystrophy +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0021060 DOID:0080691 DOID:0080690 RASopathy +MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0000426 DOID:0110157 DOID:0050736 autosomal dominant disease +MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0006311 DOID:0050458 DOID:4972 myelodysplastic/myeloproliferative neoplasm +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0000426 DOID:0110200 DOID:0050736 autosomal dominant disease +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0018778 DOID:0110200 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0011913 Alzheimer disease 3 MONDO:0000426 DOID:0110042 DOID:0050736 autosomal dominant disease +MONDO:0011913 Alzheimer disease 3 MONDO:0004975 DOID:0110042 DOID:10652 Alzheimer disease +MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome MONDO:0002254 DOID:0111361 DOID:225 syndromic disease +MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0000761 DOID:0060410 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0004976 DOID:0060198 DOID:332 amyotrophic lateral sclerosis +MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0004976 DOID:0060199 DOID:332 amyotrophic lateral sclerosis +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015364 DOID:0070148 DOID:0050548 hereditary sensory and autonomic neuropathy +MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0015131 DOID:0112064 DOID:0111962 combined immunodeficiency +MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0019064 DOID:0110776 DOID:2476 hereditary spastic paraplegia +MONDO:0012004 parathyroid gland carcinoma MONDO:0001223 DOID:1540 DOID:11201 parathyroid gland disorder +MONDO:0012004 parathyroid gland carcinoma MONDO:0004993 DOID:1540 DOID:305 carcinoma +MONDO:0012004 parathyroid gland carcinoma MONDO:0021069 DOID:1540 DOID:170 malignant endocrine neoplasm +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0000426 DOID:0110199 DOID:0050736 autosomal dominant disease +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0018778 DOID:0110199 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0006025 DOID:0110201 DOID:0050737 autosomal recessive disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0018778 DOID:0110201 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0012020 chromosome 22q11.2 microduplication syndrome MONDO:0000762 DOID:0060436 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012029 microcephaly 6, primary, autosomal recessive MONDO:0016660 DOID:0070290 DOID:0070296 autosomal recessive primary microcephaly +MONDO:0012062 dilated cardiomyopathy 1O MONDO:0005021 DOID:0110451 DOID:12930 dilated cardiomyopathy +MONDO:0012077 amyotrophic lateral sclerosis type 8 MONDO:0004976 DOID:0050752 DOID:332 amyotrophic lateral sclerosis +MONDO:0012080 neuronopathy, distal hereditary motor, type 2B MONDO:0015362 DOID:0111207 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0019052 DOID:0090123 DOID:655 inborn errors of metabolism +MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive MONDO:0000359 DOID:0112362 DOID:0050568 spondylocostal dysostosis +MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive MONDO:0006025 DOID:0112362 DOID:0050737 autosomal recessive disease +MONDO:0012098 spinocerebellar ataxia type 20 MONDO:0020380 DOID:0050971 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012103 spinocerebellar ataxia type 25 MONDO:0020380 DOID:0050974 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012105 granulomatosis with polyangiitis MONDO:0005240 DOID:12132 DOID:557 kidney disorder +MONDO:0012116 spinocerebellar ataxia type 8 MONDO:0020380 DOID:0050959 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:0019046 DOID:0060787 DOID:0060786 leukodystrophy +MONDO:0012130 myofibrillar myopathy 2 MONDO:0000426 DOID:0080093 DOID:0050736 autosomal dominant disease +MONDO:0012142 orofacial cleft 5 MONDO:0000358 DOID:0080399 DOID:0050567 orofacial cleft +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 MONDO:0015540 DOID:0110923 DOID:0050120 hemophagocytic syndrome +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel MONDO:0018940 DOID:0110662 DOID:3635 congenital myasthenic syndrome +MONDO:0012157 congenital myasthenic syndrome 4C MONDO:0018940 DOID:0110679 DOID:3635 congenital myasthenic syndrome +MONDO:0012163 immunodeficiency 104 MONDO:0015974 DOID:0090014 DOID:627 severe combined immunodeficiency +MONDO:0012169 premature ovarian failure 3 MONDO:0005387 DOID:0080860 DOID:5426 primary ovarian failure +MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 MONDO:0016587 DOID:0110077 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0019064 DOID:0110778 DOID:2476 hereditary spastic paraplegia +MONDO:0012184 Pierson syndrome MONDO:0002254 DOID:0060852 DOID:225 syndromic disease +MONDO:0012188 neuronal ceroid lipofuscinosis 9 MONDO:0016295 DOID:0110733 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0019064 DOID:0110777 DOID:2476 hereditary spastic paraplegia +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000426 DOID:0080094 DOID:0050736 autosomal dominant disease +MONDO:0012237 nemaline myopathy 6 MONDO:0018958 DOID:0110935 DOID:3191 nemaline myopathy +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0000426 DOID:0111517 DOID:0050736 autosomal dominant disease +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0005181 DOID:0111517 DOID:12558 progressive external ophthalmoplegia +MONDO:0012239 congenital myopathy 4B, autosomal recessive MONDO:0018958 DOID:0110926 DOID:3191 nemaline myopathy +MONDO:0012240 congenital myopathy 23 MONDO:0018958 DOID:0110932 DOID:3191 nemaline myopathy +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0000426 DOID:0111520 DOID:0050736 autosomal dominant disease +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0005181 DOID:0111520 DOID:12558 progressive external ophthalmoplegia +MONDO:0012246 spinocerebellar ataxia type 26 MONDO:0020380 DOID:0050975 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012247 spinocerebellar ataxia type 27 MONDO:0020380 DOID:0050976 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0019064 DOID:0110779 DOID:2476 hereditary spastic paraplegia +MONDO:0012260 cataract 35 MONDO:0005129 DOID:0110261 DOID:83 cataract +MONDO:0012269 chromosome 3q29 microdeletion syndrome MONDO:0000761 DOID:0060419 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012277 myofibrillar myopathy 4 MONDO:0000426 DOID:0080095 DOID:0050736 autosomal dominant disease +MONDO:0012295 complement component 5 deficiency MONDO:0003832 DOID:8158 DOID:626 complement deficiency +MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy MONDO:0005559 DOID:0060491 DOID:1289 neurodegenerative disease +MONDO:0012306 cardiomyopathy, familial restrictive, 2 MONDO:0005201 DOID:0111426 DOID:397 restrictive cardiomyopathy +MONDO:0012315 distal 10q deletion syndrome MONDO:0000761 DOID:0060390 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012321 Alzheimer disease 10 MONDO:0004975 DOID:0110043 DOID:10652 Alzheimer disease +MONDO:0012322 holoprosencephaly 5 MONDO:0016296 DOID:0110878 DOID:4621 holoprosencephaly +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0000426 DOID:0110780 DOID:0050736 autosomal dominant disease +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0019064 DOID:0110780 DOID:2476 hereditary spastic paraplegia +MONDO:0012336 cataract 22 multiple types MONDO:0005129 DOID:0110268 DOID:83 cataract +MONDO:0012342 7q11.23 microduplication syndrome MONDO:0000762 DOID:0080926 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012344 Alzheimer disease 11 MONDO:0004975 DOID:0110044 DOID:10652 Alzheimer disease +MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive MONDO:0000359 DOID:0112361 DOID:0050568 spondylocostal dysostosis +MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive MONDO:0006025 DOID:0112361 DOID:0050737 autosomal recessive disease +MONDO:0012351 zygodactyly type 1 MONDO:0021002 DOID:0111820 DOID:11193 syndactyly +MONDO:0012360 congenital nongoitrous hypothyroidism 3 MONDO:0018612 DOID:0070127 DOID:0050328 congenital hypothyroidism +MONDO:0012362 dilated cardiomyopathy 1P MONDO:0005021 DOID:0110439 DOID:12930 dilated cardiomyopathy +MONDO:0012364 dilated cardiomyopathy 1Q MONDO:0005021 DOID:0110442 DOID:12930 dilated cardiomyopathy +MONDO:0012381 hyperinsulinism due to INSR deficiency MONDO:0005803 DOID:0070220 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0005803 DOID:0070215 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0016295 DOID:0110724 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0012396 exercise-induced hyperinsulinism MONDO:0005803 DOID:0070214 DOID:13317 hyperinsulinemic hypoglycemia +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0005528 DOID:0111329 DOID:0050718 inborn vitamin metabolic disorder +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0000426 DOID:0111189 DOID:0050736 autosomal dominant disease +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0018949 DOID:0111189 DOID:11720 distal myopathy +MONDO:0012411 giant axonal neuropathy 2 MONDO:0004183 DOID:0090069 DOID:7319 axonal neuropathy +MONDO:0012412 complement component 7 deficiency MONDO:0003832 DOID:0060300 DOID:626 complement deficiency +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0016295 DOID:0110725 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0000426 DOID:0111525 DOID:0050736 autosomal dominant disease +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0005181 DOID:0111525 DOID:12558 progressive external ophthalmoplegia +MONDO:0012426 immunodeficiency 25 MONDO:0015974 DOID:0060007 DOID:627 severe combined immunodeficiency +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 MONDO:0016587 DOID:0110081 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012437 cataract 21 multiple types MONDO:0005129 DOID:0110256 DOID:83 cataract +MONDO:0012444 neurodegeneration with brain iron accumulation 2B MONDO:0018307 DOID:0110736 DOID:0110734 neurodegeneration with brain iron accumulation +MONDO:0012449 spinocerebellar ataxia type 23 MONDO:0020380 DOID:0050973 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0020380 DOID:0050977 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0012489 cataract 23 MONDO:0005129 DOID:0110271 DOID:83 cataract +MONDO:0012502 normophosphatemic familial tumoral calcinosis MONDO:0002123 DOID:0080170 DOID:182 calcinosis +MONDO:0012503 thiopurine S-methyltransferase deficiency MONDO:0019052 DOID:0080172 DOID:655 inborn errors of metabolism +MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 MONDO:0016587 DOID:0110082 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012518 congenital myasthenic syndrome 12 MONDO:0018940 DOID:0110660 DOID:3635 congenital myasthenic syndrome +MONDO:0012527 cataract 11 multiple types MONDO:0005129 DOID:0110249 DOID:83 cataract +MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia MONDO:0018555 DOID:0090077 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0012536 osteogenesis imperfecta type 7 MONDO:0019019 DOID:0110337 DOID:12347 osteogenesis imperfecta +MONDO:0012538 nemaline myopathy 7 MONDO:0018958 DOID:0110934 DOID:3191 nemaline myopathy +MONDO:0012543 optic atrophy 5 MONDO:0000426 DOID:0111438 DOID:0050736 autosomal dominant disease +MONDO:0012543 optic atrophy 5 MONDO:0003608 DOID:0111438 DOID:5723 optic atrophy +MONDO:0012546 nephrotic syndrome, type 3 MONDO:0002350 DOID:0080382 DOID:2590 familial nephrotic syndrome +MONDO:0012548 Kostmann syndrome MONDO:0006025 DOID:0112133 DOID:0050737 autosomal recessive disease +MONDO:0012548 Kostmann syndrome MONDO:0018542 DOID:0112133 DOID:0050590 severe congenital neutropenia +MONDO:0012563 holoprosencephaly 9 MONDO:0016296 DOID:0110873 DOID:4621 holoprosencephaly +MONDO:0012574 Potocki-Lupski syndrome MONDO:0000762 DOID:0060853 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012581 osteogenesis imperfecta type 8 MONDO:0019019 DOID:0110336 DOID:12347 osteogenesis imperfecta +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 DOID:0110344 DOID:12347 osteogenesis imperfecta +MONDO:0012592 osteogenesis imperfecta type 11 MONDO:0019019 DOID:0110351 DOID:12347 osteogenesis imperfecta +MONDO:0012596 PSAT deficiency MONDO:0000421 DOID:0050723 DOID:0050721 inborn serine deficiency +MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0003441 DOID:0090054 DOID:543 dystonic disorder +MONDO:0012609 Alzheimer disease 12 MONDO:0004975 DOID:0110045 DOID:10652 Alzheimer disease +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 MONDO:0003441 DOID:0090047 DOID:543 dystonic disorder +MONDO:0012630 Alzheimer disease 13 MONDO:0004975 DOID:0110046 DOID:10652 Alzheimer disease +MONDO:0012631 Alzheimer disease 14 MONDO:0004975 DOID:0110047 DOID:10652 Alzheimer disease +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0019064 DOID:0110771 DOID:2476 hereditary spastic paraplegia +MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0019064 DOID:0110783 DOID:2476 hereditary spastic paraplegia +MONDO:0012658 brachydactyly type B2 MONDO:0021004 DOID:0110975 DOID:0050581 brachydactyly +MONDO:0012664 spastic ataxia 3 MONDO:0006025 DOID:0050942 DOID:0050737 autosomal recessive disease +MONDO:0012664 spastic ataxia 3 MONDO:0017845 DOID:0050942 DOID:0050952 spastic ataxia +MONDO:0012665 cataract 33 MONDO:0005129 DOID:0110264 DOID:83 cataract +MONDO:0012667 dilated cardiomyopathy 1W MONDO:0005021 DOID:0110446 DOID:12930 dilated cardiomyopathy +MONDO:0012669 Legius syndrome MONDO:0021060 DOID:0070484 DOID:0080690 RASopathy +MONDO:0012672 cholelithiasis MONDO:0005281 DOID:10211 DOID:0060262 gallbladder disorder +MONDO:0012676 autosomal recessive osteopetrosis 4 MONDO:0006025 DOID:0110944 DOID:0050737 autosomal recessive disease +MONDO:0012676 autosomal recessive osteopetrosis 4 MONDO:0017198 DOID:0110944 DOID:13533 osteopetrosis +MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:0006025 DOID:0110945 DOID:0050737 autosomal recessive disease +MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:0017198 DOID:0110945 DOID:13533 osteopetrosis +MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 MONDO:0016587 DOID:0110083 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0012688 cataract 17 multiple types MONDO:0005129 DOID:0110270 DOID:83 cataract +MONDO:0012689 premature ovarian failure 5 MONDO:0005387 DOID:0080862 DOID:5426 primary ovarian failure +MONDO:0012698 Waardenburg syndrome type 2E MONDO:0018094 DOID:0110956 DOID:9258 Waardenburg syndrome +MONDO:0012704 dilated cardiomyopathy 1X MONDO:0005021 DOID:0110444 DOID:12930 dilated cardiomyopathy +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0006025 DOID:0081341 DOID:0050737 autosomal recessive disease +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0019952 DOID:0081341 DOID:0081337 congenital myopathy +MONDO:0012717 renal hypomagnesemia 4 MONDO:0018100 DOID:0060882 DOID:0060879 familial primary hypomagnesemia +MONDO:0012719 combined PSAP deficiency MONDO:0019255 DOID:0111330 DOID:1927 sphingolipidosis +MONDO:0012736 long QT syndrome 9 MONDO:0002442 DOID:0110650 DOID:2843 long QT syndrome +MONDO:0012737 long QT syndrome 10 MONDO:0002442 DOID:0110651 DOID:2843 long QT syndrome +MONDO:0012738 long QT syndrome 11 MONDO:0002442 DOID:0110652 DOID:2843 long QT syndrome +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal MONDO:0000761 DOID:0060413 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012745 dilated cardiomyopathy 1Z MONDO:0005021 DOID:0110434 DOID:12930 dilated cardiomyopathy +MONDO:0012746 dilated cardiomyopathy 2A MONDO:0005021 DOID:0110460 DOID:12930 dilated cardiomyopathy +MONDO:0012753 amyotrophic lateral sclerosis type 9 MONDO:0004976 DOID:0060200 DOID:332 amyotrophic lateral sclerosis +MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0000761 DOID:0070515 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012761 chromosome 3q29 microduplication syndrome MONDO:0000762 DOID:0060459 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012764 RIDDLE syndrome MONDO:0006025 DOID:0090113 DOID:0050737 autosomal recessive disease +MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0019064 DOID:0110788 DOID:2476 hereditary spastic paraplegia +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0000761 DOID:0060394 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0019064 DOID:0110790 DOID:2476 hereditary spastic paraplegia +MONDO:0012790 amyotrophic lateral sclerosis type 10 MONDO:0004976 DOID:0060201 DOID:332 amyotrophic lateral sclerosis +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0018158 DOID:0080124 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0018158 DOID:0070331 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0018158 DOID:0080127 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0012796 retinitis pigmentosa 41 MONDO:0006025 DOID:0110376 DOID:0050737 autosomal recessive disease +MONDO:0012802 oculoauricular syndrome MONDO:0002254 DOID:0060482 DOID:225 syndromic disease +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0003441 DOID:0090045 DOID:543 dystonic disorder +MONDO:0012808 dilated cardiomyopathy 1AA MONDO:0005021 DOID:0110428 DOID:12930 dilated cardiomyopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:0019046 DOID:0060789 DOID:0060786 leukodystrophy +MONDO:0012830 chromosome 10q23 deletion syndrome MONDO:0000761 DOID:0060389 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0002254 DOID:0111161 DOID:225 syndromic disease +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0005381 DOID:0111161 DOID:0080001 bone disorder +MONDO:0012847 autosomal recessive congenital ichthyosis 6 MONDO:0017265 DOID:0060715 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0006025 DOID:0110946 DOID:0050737 autosomal recessive disease +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0017198 DOID:0110946 DOID:13533 osteopetrosis +MONDO:0012861 premature ovarian failure 6 MONDO:0005387 DOID:0080863 DOID:5426 primary ovarian failure +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0000761 DOID:0060428 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0002254 DOID:0060428 DOID:225 syndromic disease +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0000426 DOID:0110789 DOID:0050736 autosomal dominant disease +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0019064 DOID:0110789 DOID:2476 hereditary spastic paraplegia +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0002304 DOID:0111900 DOID:2451 protein S deficiency +MONDO:0012870 chromosome 2q31.2 deletion syndrome MONDO:0000761 DOID:0060416 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0002305 DOID:0111906 DOID:2452 thrombophilia +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0020066 DOID:0080739 DOID:13359 Ehlers-Danlos syndrome +MONDO:0012876 heparin cofactor 2 deficiency MONDO:0002305 DOID:0111901 DOID:2452 thrombophilia +MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia MONDO:0018555 DOID:0090084 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0012895 torsion dystonia 17 MONDO:0003441 DOID:0090042 DOID:543 dystonic disorder +MONDO:0012897 congenital factor XI deficiency MONDO:0001531 DOID:2229 DOID:1247 blood coagulation disease +MONDO:0012900 cardiomyopathy, familial restrictive, 3 MONDO:0005201 DOID:0111427 DOID:397 restrictive cardiomyopathy +MONDO:0012908 complement component 6 deficiency MONDO:0003832 DOID:0060299 DOID:626 complement deficiency +MONDO:0012914 chromosome 1q21.1 deletion syndrome MONDO:0000761 DOID:0060411 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012915 chromosome 1q21.1 duplication syndrome MONDO:0000762 DOID:0060435 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome MONDO:0000761 DOID:0060415 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 MONDO:0019507 DOID:0110060 DOID:2187 amelogenesis imperfecta +MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0000761 DOID:0060412 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0019064 DOID:0110794 DOID:2476 hereditary spastic paraplegia +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0006025 DOID:0112136 DOID:0050737 autosomal recessive disease +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0018542 DOID:0112136 DOID:0050590 severe congenital neutropenia +MONDO:0012941 inflammatory bowel disease 25 MONDO:0005265 DOID:0110909 DOID:0050589 inflammatory bowel disease +MONDO:0012945 amyotrophic lateral sclerosis type 11 MONDO:0004976 DOID:0060202 DOID:332 amyotrophic lateral sclerosis +MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0000761 DOID:0060422 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012964 chromosome 15q26-qter deletion syndrome MONDO:0000761 DOID:0060397 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0012984 PHARC syndrome MONDO:0002254 DOID:0080181 DOID:225 syndromic disease +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria MONDO:0000087 DOID:0080923 DOID:0080918 polymicrogyria +MONDO:0012987 agammaglobulinemia 6, autosomal recessive MONDO:0015977 DOID:0081138 DOID:2583 agammaglobulinemia +MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia MONDO:0018555 DOID:0090086 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0003441 DOID:0111168 DOID:543 dystonic disorder +MONDO:0013017 hypotrichosis 5 MONDO:0003037 DOID:0110702 DOID:4535 hypotrichosis +MONDO:0013025 chromosome 6q24-q25 deletion syndrome MONDO:0000761 DOID:0060424 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013030 dilated cardiomyopathy 1BB MONDO:0005021 DOID:0110458 DOID:12930 dilated cardiomyopathy +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0006025 DOID:0070137 DOID:0050737 autosomal recessive disease +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0016175 DOID:0070137 DOID:3144 cutis laxa +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0100062 DOID:0080349 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0013062 long QT syndrome 12 MONDO:0002442 DOID:0110653 DOID:2843 long QT syndrome +MONDO:0013065 premature ovarian failure 7 MONDO:0005387 DOID:0080864 DOID:5426 primary ovarian failure +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0003608 DOID:0111437 DOID:5723 optic atrophy +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:0000426 DOID:0070249 DOID:0050736 autosomal dominant disease +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:0016830 DOID:0070249 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:0000426 DOID:0070250 DOID:0050736 autosomal dominant disease +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:0016830 DOID:0070250 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 MONDO:0004822 DOID:0080527 DOID:9563 bronchiectasis +MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0000761 DOID:0060408 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0005154 DOID:0080778 DOID:409 liver disorder +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 MONDO:0004822 DOID:0080528 DOID:9563 bronchiectasis +MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0000426 DOID:0111518 DOID:0050736 autosomal dominant disease +MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0005181 DOID:0111518 DOID:12558 progressive external ophthalmoplegia +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0000426 DOID:0110787 DOID:0050736 autosomal dominant disease +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0019064 DOID:0110787 DOID:2476 hereditary spastic paraplegia +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 MONDO:0015540 DOID:0110925 DOID:0050120 hemophagocytic syndrome +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0002305 DOID:0111903 DOID:2452 thrombophilia +MONDO:0013144 hereditary antithrombin deficiency MONDO:0002305 DOID:3755 DOID:2452 thrombophilia +MONDO:0013147 dilated cardiomyopathy 1CC MONDO:0005021 DOID:0110424 DOID:12930 dilated cardiomyopathy +MONDO:0013153 inflammatory bowel disease 28 MONDO:0005265 DOID:0110899 DOID:0050589 inflammatory bowel disease +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0019064 DOID:0110797 DOID:2476 hereditary spastic paraplegia +MONDO:0013168 dilated cardiomyopathy 1DD MONDO:0005021 DOID:0110447 DOID:12930 dilated cardiomyopathy +MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:0000762 DOID:0060460 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0019064 DOID:0110796 DOID:2476 hereditary spastic paraplegia +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 MONDO:0019507 DOID:0110061 DOID:2187 amelogenesis imperfecta +MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:0000762 DOID:0060432 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0000824 DOID:0060776 DOID:0060774 congenital diarrhea +MONDO:0013191 focal segmental glomerulosclerosis 5 MONDO:0100313 DOID:0111130 DOID:1312 focal segmental glomerulosclerosis +MONDO:0013198 dilated cardiomyopathy 1EE MONDO:0005021 DOID:0110453 DOID:12930 dilated cardiomyopathy +MONDO:0013201 Waardenburg syndrome type 4B MONDO:0018094 DOID:0110954 DOID:9258 Waardenburg syndrome +MONDO:0013202 Waardenburg syndrome type 4C MONDO:0018094 DOID:0110955 DOID:9258 Waardenburg syndrome +MONDO:0013211 dilated cardiomyopathy 1FF MONDO:0005021 DOID:0110459 DOID:12930 dilated cardiomyopathy +MONDO:0013218 exudative vitreoretinopathy 5 MONDO:0019516 DOID:0111408 DOID:0050535 exudative vitreoretinopathy +MONDO:0013229 hot water reflex epilepsy MONDO:0017768 DOID:0081104 DOID:2548 reflex epilepsy +MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome MONDO:0000761 DOID:0060405 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0019064 DOID:0110793 DOID:2476 hereditary spastic paraplegia +MONDO:0013241 spinocerebellar ataxia type 30 MONDO:0020380 DOID:0050979 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013243 neuronopathy, distal hereditary motor, type 2C MONDO:0015362 DOID:0111209 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0013244 brachydactyly type E2 MONDO:0021004 DOID:0110976 DOID:0050581 brachydactyly +MONDO:0013247 Fanconi renotubular syndrome 2 MONDO:0001083 DOID:0080758 DOID:1062 Fanconi renotubular syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:0000761 DOID:0060395 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013259 Oguchi disease-2 MONDO:0016293 DOID:0110713 DOID:0050534 congenital stationary night blindness +MONDO:0013264 amyotrophic lateral sclerosis type 12 MONDO:0004976 DOID:0060203 DOID:332 amyotrophic lateral sclerosis +MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:0000761 DOID:0060398 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013272 chromosome 14q11-q22 deletion syndrome MONDO:0000761 DOID:0060392 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013273 chromosome 16p13.3 duplication syndrome MONDO:0000762 DOID:0060431 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013279 long QT syndrome 13 MONDO:0002442 DOID:0110654 DOID:2843 long QT syndrome +MONDO:0013280 myxoid liposarcoma MONDO:0005060 DOID:5363 DOID:3382 liposarcoma +MONDO:0013280 myxoid liposarcoma MONDO:0005060 DOID:5709 DOID:3382 liposarcoma +MONDO:0013287 agammaglobulinemia 2, autosomal recessive MONDO:0002211 DOID:0060024 DOID:2115 B cell deficiency +MONDO:0013287 agammaglobulinemia 2, autosomal recessive MONDO:0015977 DOID:0081135 DOID:2583 agammaglobulinemia +MONDO:0013288 agammaglobulinemia 3, autosomal recessive MONDO:0015977 DOID:0081137 DOID:2583 agammaglobulinemia +MONDO:0013289 agammaglobulinemia 4, autosomal recessive MONDO:0015977 DOID:0060027 DOID:2583 agammaglobulinemia +MONDO:0013290 agammaglobulinemia 5, autosomal dominant MONDO:0015977 DOID:0080588 DOID:2583 agammaglobulinemia +MONDO:0013291 glycogen storage disease XV MONDO:0002412 DOID:0050579 DOID:2747 disorder of glycogen metabolism +MONDO:0013292 chromosome 4q21 deletion syndrome MONDO:0000761 DOID:0060420 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:0000762 DOID:0060434 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013299 chromosome 6q11-q14 deletion syndrome MONDO:0000761 DOID:0060423 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013309 chromosome 2p12-p11.2 deletion syndrome MONDO:0000761 DOID:0060414 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0005523 DOID:0080925 DOID:1701 steroid inherited metabolic disorder +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome MONDO:0000761 DOID:0060400 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:0000761 DOID:0060426 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0006025 DOID:0110204 DOID:0050737 autosomal recessive disease +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0018778 DOID:0110204 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0013339 dilated cardiomyopathy 1GG MONDO:0005021 DOID:0110435 DOID:12930 dilated cardiomyopathy +MONDO:0013354 spastic ataxia 4 MONDO:0006025 DOID:0050943 DOID:0050737 autosomal recessive disease +MONDO:0013354 spastic ataxia 4 MONDO:0017845 DOID:0050943 DOID:0050952 spastic ataxia +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0000426 DOID:0060403 DOID:0050736 autosomal dominant disease +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0000761 DOID:0060403 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013363 chromosome 2q31.1 duplication syndrome MONDO:0000762 DOID:0060458 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive MONDO:0000359 DOID:0112364 DOID:0050568 spondylocostal dysostosis +MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive MONDO:0006025 DOID:0112364 DOID:0050737 autosomal recessive disease +MONDO:0013367 long QT syndrome 2 MONDO:0002442 DOID:0110645 DOID:2843 long QT syndrome +MONDO:0013370 long QT syndrome 6 MONDO:0002442 DOID:0110648 DOID:2843 long QT syndrome +MONDO:0013371 dilated cardiomyopathy 1U MONDO:0005021 DOID:0110455 DOID:12930 dilated cardiomyopathy +MONDO:0013372 long QT syndrome 5 MONDO:0002442 DOID:0110647 DOID:2843 long QT syndrome +MONDO:0013373 dilated cardiomyopathy 1V MONDO:0005021 DOID:0110427 DOID:12930 dilated cardiomyopathy +MONDO:0013378 orofacial cleft 10 MONDO:0000358 DOID:0080403 DOID:0050567 orofacial cleft +MONDO:0013389 developmental and epileptic encephalopathy, 12 MONDO:0100062 DOID:0080459 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:0000761 DOID:0060409 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013411 cataract 16 multiple types MONDO:0005129 DOID:0110250 DOID:83 cataract +MONDO:0013415 chromosome 17p13.1 deletion syndrome MONDO:0000761 DOID:0060402 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013417 complement component 3 deficiency MONDO:0003832 DOID:8354 DOID:626 complement deficiency +MONDO:0013421 type II complement component 8 deficiency MONDO:0003832 DOID:0060302 DOID:626 complement deficiency +MONDO:0013422 type I complement component 8 deficiency MONDO:0003832 DOID:0060301 DOID:626 complement deficiency +MONDO:0013424 3p- syndrome MONDO:0000761 DOID:0060417 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013425 retinitis pigmentosa 20 MONDO:0006025 DOID:0110353 DOID:0050737 autosomal recessive disease +MONDO:0013428 Meier-Gorlin syndrome 2 MONDO:0006025 DOID:0080513 DOID:0050737 autosomal recessive disease +MONDO:0013430 Meier-Gorlin syndrome 3 MONDO:0006025 DOID:0080514 DOID:0050737 autosomal recessive disease +MONDO:0013431 Meier-Gorlin syndrome 4 MONDO:0006025 DOID:0080515 DOID:0050737 autosomal recessive disease +MONDO:0013432 Meier-Gorlin syndrome 5 MONDO:0006025 DOID:0080516 DOID:0050737 autosomal recessive disease +MONDO:0013445 complement component 9 deficiency MONDO:0003832 DOID:0060303 DOID:626 complement deficiency +MONDO:0013459 osteogenesis imperfecta type 10 MONDO:0019019 DOID:0110346 DOID:12347 osteogenesis imperfecta +MONDO:0013460 osteogenesis imperfecta type 12 MONDO:0019019 DOID:0110348 DOID:12347 osteogenesis imperfecta +MONDO:0013463 congenital heart defects, multiple types, 6 MONDO:0005453 DOID:0060772 DOID:1682 congenital heart disease +MONDO:0013479 dilated cardiomyopathy 1HH MONDO:0005021 DOID:0110448 DOID:12930 dilated cardiomyopathy +MONDO:0013480 renal hypomagnesemia 6 MONDO:0018100 DOID:0060884 DOID:0060879 familial primary hypomagnesemia +MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:0000761 DOID:0060391 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013485 spinocerebellar ataxia type 35 MONDO:0020380 DOID:0050982 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013500 immunodeficiency 51 MONDO:0003778 DOID:0111996 DOID:612 inborn error of immunity +MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 MONDO:0004976 DOID:0060205 DOID:332 amyotrophic lateral sclerosis +MONDO:0013502 amyloidosis, primary localized cutaneous, 2 MONDO:0015301 DOID:0080931 DOID:0050639 primary cutaneous amyloidosis +MONDO:0013512 hemoglobin H disease MONDO:0011399 DOID:0110031 DOID:1099 alpha thalassemia spectrum +MONDO:0013515 osteogenesis imperfecta type 6 MONDO:0019019 DOID:0110350 DOID:12347 osteogenesis imperfecta +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0015333 DOID:0081334 DOID:0081332 progeroid syndrome +MONDO:0013531 PSPH deficiency MONDO:0000421 DOID:0050724 DOID:0050721 inborn serine deficiency +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement MONDO:0018949 DOID:0111190 DOID:11720 distal myopathy +MONDO:0013555 Hermansky-Pudlak syndrome 3 MONDO:0019312 DOID:0060541 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013556 Hermansky-Pudlak syndrome 4 MONDO:0019312 DOID:0060542 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013557 Hermansky-Pudlak syndrome 5 MONDO:0019312 DOID:0060543 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013558 Hermansky-Pudlak syndrome 6 MONDO:0019312 DOID:0060544 DOID:3753 Hermansky-Pudlak syndrome +MONDO:0013571 acatalasia MONDO:0019053 DOID:2582 DOID:906 peroxisomal disease +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0015364 DOID:0070158 DOID:0050548 hereditary sensory and autonomic neuropathy +MONDO:0013589 focal segmental glomerulosclerosis 6 MONDO:0100313 DOID:0111131 DOID:1312 focal segmental glomerulosclerosis +MONDO:0013592 nonsyndromic congenital nail disorder 9 MONDO:0019284 DOID:0080087 DOID:0080683 inherited isolated nail anomaly +MONDO:0013594 spinocerebellar ataxia type 36 MONDO:0020380 DOID:0050983 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0003778 DOID:0111946 DOID:612 inborn error of immunity +MONDO:0013605 brittle cornea syndrome 2 MONDO:0000942 DOID:0080729 DOID:10124 corneal disorder +MONDO:0013605 brittle cornea syndrome 2 MONDO:0006025 DOID:0080729 DOID:0050737 autosomal recessive disease +MONDO:0013605 brittle cornea syndrome 2 MONDO:0020066 DOID:0080729 DOID:13359 Ehlers-Danlos syndrome +MONDO:0013619 nephrotic syndrome, type 6 MONDO:0002350 DOID:0080384 DOID:2590 familial nephrotic syndrome +MONDO:0013620 congenital myasthenic syndrome 16 MONDO:0006025 DOID:0110682 DOID:0050737 autosomal recessive disease +MONDO:0013620 congenital myasthenic syndrome 16 MONDO:0018940 DOID:0110682 DOID:3635 congenital myasthenic syndrome +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0015244 DOID:0080063 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:0000761 DOID:0060425 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013661 combined malonic and methylmalonic acidemia MONDO:0000688 DOID:0111263 DOID:0060159 inborn organic aciduria +MONDO:0013672 chromosome 15q25 deletion syndrome MONDO:0000761 DOID:0060396 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0000426 DOID:0070252 DOID:0050736 autosomal dominant disease +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0016830 DOID:0070252 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency MONDO:0019053 DOID:0060602 DOID:906 peroxisomal disease +MONDO:0013686 distal myopathy, Tateyama type MONDO:0000426 DOID:0111191 DOID:0050736 autosomal dominant disease +MONDO:0013686 distal myopathy, Tateyama type MONDO:0018949 DOID:0111191 DOID:11720 distal myopathy +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0015244 DOID:0080060 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0013715 amyotrophic lateral sclerosis type 16 MONDO:0004976 DOID:0060207 DOID:332 amyotrophic lateral sclerosis +MONDO:0013720 complement component 4b deficiency MONDO:0003832 DOID:0060298 DOID:626 complement deficiency +MONDO:0013721 complement component 4a deficiency MONDO:0003832 DOID:0060297 DOID:626 complement deficiency +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 DOID:0060797 DOID:0060786 leukodystrophy +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0019064 DOID:0110798 DOID:2476 hereditary spastic paraplegia +MONDO:0013744 cataract 37 MONDO:0005129 DOID:0110252 DOID:83 cataract +MONDO:0013757 congenital nongoitrous hypothyroidism 6 MONDO:0018612 DOID:0070128 DOID:0050328 congenital hypothyroidism +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0000426 DOID:0110205 DOID:0050736 autosomal dominant disease +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0018778 DOID:0110205 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0002305 DOID:0111908 DOID:2452 thrombophilia +MONDO:0013776 spastic ataxia 5 MONDO:0006025 DOID:0050944 DOID:0050737 autosomal recessive disease +MONDO:0013776 spastic ataxia 5 MONDO:0017845 DOID:0050944 DOID:0050952 spastic ataxia +MONDO:0013796 chromosome 17q12 duplication syndrome MONDO:0000762 DOID:0060433 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013797 chromosome 17q12 deletion syndrome MONDO:0000761 DOID:0060404 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0000761 DOID:0060401 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0013801 developmental and epileptic encephalopathy, 13 MONDO:0100062 DOID:0080445 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0005559 DOID:0050883 DOID:1289 neurodegenerative disease +MONDO:0013808 Maffucci syndrome MONDO:0002254 DOID:0060221 DOID:225 syndromic disease +MONDO:0013813 dystonia 21 MONDO:0003441 DOID:0090046 DOID:543 dystonic disorder +MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:0000762 DOID:0060430 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0013848 dilated cardiomyopathy 2B MONDO:0005021 DOID:0110441 DOID:12930 dilated cardiomyopathy +MONDO:0013853 pontocerebellar hypoplasia type 1B MONDO:0006025 DOID:0060266 DOID:0050737 autosomal recessive disease +MONDO:0013859 cataract 38 MONDO:0005129 DOID:0110245 DOID:83 cataract +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0016295 DOID:0110732 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019254 DOID:0060350 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0013883 congenital myasthenic syndrome 13 MONDO:0018940 DOID:0110676 DOID:3635 congenital myasthenic syndrome +MONDO:0013884 neuronopathy, distal hereditary motor, type 5B MONDO:0015362 DOID:0111205 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0020380 DOID:0050998 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0013891 amyotrophic lateral sclerosis type 18 MONDO:0004976 DOID:0060209 DOID:332 amyotrophic lateral sclerosis +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:0015244 DOID:0080062 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 MONDO:0019507 DOID:0110062 DOID:2187 amelogenesis imperfecta +MONDO:0013907 bilateral generalized polymicrogyria MONDO:0000087 DOID:0080920 DOID:0080918 polymicrogyria +MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia MONDO:0018555 DOID:0090074 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia MONDO:0018555 DOID:0090085 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia MONDO:0018555 DOID:0090071 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia MONDO:0018555 DOID:0090087 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) MONDO:0019609 DOID:0080478 DOID:905 Zellweger spectrum disorders +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) MONDO:0019609 DOID:0080479 DOID:905 Zellweger spectrum disorders +MONDO:0013931 peroxisome biogenesis disorder 4B MONDO:0006025 DOID:0081433 DOID:0050737 autosomal recessive disease +MONDO:0013931 peroxisome biogenesis disorder 4B MONDO:0019234 DOID:0081433 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) MONDO:0019609 DOID:0080480 DOID:905 Zellweger spectrum disorders +MONDO:0013933 peroxisome biogenesis disorder 5B MONDO:0006025 DOID:0081434 DOID:0050737 autosomal recessive disease +MONDO:0013933 peroxisome biogenesis disorder 5B MONDO:0019234 DOID:0081434 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) MONDO:0019609 DOID:0080481 DOID:905 Zellweger spectrum disorders +MONDO:0013937 peroxisome biogenesis disorder 6B MONDO:0006025 DOID:0081435 DOID:0050737 autosomal recessive disease +MONDO:0013937 peroxisome biogenesis disorder 6B MONDO:0019234 DOID:0081435 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) MONDO:0019609 DOID:0080482 DOID:905 Zellweger spectrum disorders +MONDO:0013939 peroxisome biogenesis disorder 7B MONDO:0006025 DOID:0081436 DOID:0050737 autosomal recessive disease +MONDO:0013939 peroxisome biogenesis disorder 7B MONDO:0019234 DOID:0081436 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) MONDO:0019609 DOID:0080483 DOID:905 Zellweger spectrum disorders +MONDO:0013943 peroxisome biogenesis disorder 8B MONDO:0006025 DOID:0081437 DOID:0050737 autosomal recessive disease +MONDO:0013943 peroxisome biogenesis disorder 8B MONDO:0019234 DOID:0081437 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013945 peroxisome biogenesis disorder 9B MONDO:0006025 DOID:0081438 DOID:0050737 autosomal recessive disease +MONDO:0013945 peroxisome biogenesis disorder 9B MONDO:0019234 DOID:0081438 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia MONDO:0018555 DOID:0090075 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) MONDO:0019609 DOID:0080484 DOID:905 Zellweger spectrum disorders +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) MONDO:0019609 DOID:0080485 DOID:905 Zellweger spectrum disorders +MONDO:0013950 peroxisome biogenesis disorder 11B MONDO:0006025 DOID:0081439 DOID:0050737 autosomal recessive disease +MONDO:0013950 peroxisome biogenesis disorder 11B MONDO:0019234 DOID:0081439 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) MONDO:0019609 DOID:0080486 DOID:905 Zellweger spectrum disorders +MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) MONDO:0019609 DOID:0080487 DOID:905 Zellweger spectrum disorders +MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia MONDO:0018555 DOID:0090080 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0019064 DOID:0110805 DOID:2476 hereditary spastic paraplegia +MONDO:0013967 peroxisome biogenesis disorder 14B MONDO:0006025 DOID:0081274 DOID:0050737 autosomal recessive disease +MONDO:0013967 peroxisome biogenesis disorder 14B MONDO:0019234 DOID:0081274 DOID:0080377 peroxisome biogenesis disorder +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0004736 DOID:0090126 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:0000426 DOID:0111653 DOID:0050736 autosomal dominant disease +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:0016535 DOID:0111653 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0006025 DOID:0111654 DOID:0050737 autosomal recessive disease +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0016535 DOID:0111654 DOID:14793 hypohidrotic ectodermal dysplasia +MONDO:0014009 autosomal recessive congenital ichthyosis 7 MONDO:0017265 DOID:0060716 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0014010 autosomal recessive congenital ichthyosis 9 MONDO:0017265 DOID:0060718 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0014011 autosomal recessive congenital ichthyosis 10 MONDO:0017265 DOID:0060719 DOID:0060655 autosomal recessive congenital ichthyosis +MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0019064 DOID:0110801 DOID:2476 hereditary spastic paraplegia +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0019064 DOID:0110806 DOID:2476 hereditary spastic paraplegia +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0019064 DOID:0110807 DOID:2476 hereditary spastic paraplegia +MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0019064 DOID:0110795 DOID:2476 hereditary spastic paraplegia +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0001516 DOID:0081356 DOID:12377 spinal muscular atrophy +MONDO:0014029 osteogenesis imperfecta type 14 MONDO:0019019 DOID:0110343 DOID:12347 osteogenesis imperfecta +MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0006025 DOID:0110940 DOID:0050737 autosomal recessive disease +MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0017198 DOID:0110940 DOID:13533 osteopetrosis +MONDO:0014052 congenital myasthenic syndrome 8 MONDO:0018940 DOID:0110657 DOID:3635 congenital myasthenic syndrome +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0005181 DOID:0111519 DOID:12558 progressive external ophthalmoplegia +MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 MONDO:0015448 DOID:0060351 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 MONDO:0015448 DOID:0080112 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 MONDO:0015448 DOID:0080113 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 MONDO:0015448 DOID:0080114 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014073 dilated cardiomyopathy 1II MONDO:0005021 DOID:0110450 DOID:12930 dilated cardiomyopathy +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0000426 DOID:0110206 DOID:0050736 autosomal dominant disease +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0018778 DOID:0110206 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0014075 cataract 39 multiple types MONDO:0005129 DOID:0110236 DOID:83 cataract +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0015780 DOID:0070022 DOID:2729 dyskeratosis congenita +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0018838 DOID:0112230 DOID:0050453 lissencephaly spectrum disorders +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0015974 DOID:0111957 DOID:627 severe combined immunodeficiency +MONDO:0014083 agammaglobulinemia 7, autosomal recessive MONDO:0015977 DOID:0081139 DOID:2583 agammaglobulinemia +MONDO:0014086 osteogenesis imperfecta type 15 MONDO:0019019 DOID:0110347 DOID:12347 osteogenesis imperfecta +MONDO:0014095 dilated cardiomyopathy 1JJ MONDO:0005021 DOID:0110438 DOID:12930 dilated cardiomyopathy +MONDO:0014099 nephrotic syndrome, type 8 MONDO:0002350 DOID:0080389 DOID:2590 familial nephrotic syndrome +MONDO:0014100 dilated cardiomyopathy 1KK MONDO:0005021 DOID:0110445 DOID:12930 dilated cardiomyopathy +MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia MONDO:0018555 DOID:0090079 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia MONDO:0018555 DOID:0090076 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia MONDO:0018555 DOID:0090090 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia MONDO:0018555 DOID:0090082 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia MONDO:0018555 DOID:0090093 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014110 cataract 15 multiple types MONDO:0005129 DOID:0110251 DOID:83 cataract +MONDO:0014111 cataract 19 multiple types MONDO:0005129 DOID:0110263 DOID:83 cataract +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0006025 DOID:0112132 DOID:0050737 autosomal recessive disease +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0018542 DOID:0112132 DOID:0050590 severe congenital neutropenia +MONDO:0014133 developmental and epileptic encephalopathy, 16 MONDO:0100062 DOID:0080449 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014138 nemaline myopathy 8 MONDO:0018958 DOID:0110930 DOID:3191 nemaline myopathy +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0016295 DOID:0110727 DOID:14503 neuronal ceroid lipofuscinosis +MONDO:0014150 developmental and epileptic encephalopathy 94 MONDO:0100062 DOID:0081325 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0006025 DOID:0110198 DOID:0050737 autosomal recessive disease +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0018778 DOID:0110198 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency MONDO:0015974 DOID:0060019 DOID:627 severe combined immunodeficiency +MONDO:0014181 amyotrophic lateral sclerosis type 20 MONDO:0004976 DOID:0060211 DOID:332 amyotrophic lateral sclerosis +MONDO:0014185 chromosome 3q13.31 deletion syndrome MONDO:0000761 DOID:0060418 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 MONDO:0015448 DOID:0080115 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014198 mitochondrial DNA depletion syndrome 13 MONDO:0018158 DOID:0080131 DOID:0070329 mitochondrial DNA depletion syndrome +MONDO:0014223 amyotrophic lateral sclerosis type 19 MONDO:0004976 DOID:0060210 DOID:332 amyotrophic lateral sclerosis +MONDO:0014231 juvenile onset Parkinson disease 19A MONDO:0017279 DOID:0060891 DOID:0060894 young-onset Parkinson disease +MONDO:0014234 reticulate acropigmentation of Kitamura MONDO:0019288 DOID:0060258 DOID:10123 skin pigmentation disorder +MONDO:0014235 chromosome 22q13 duplication syndrome MONDO:0000762 DOID:0060437 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:0020066 DOID:0080735 DOID:13359 Ehlers-Danlos syndrome +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:0020066 DOID:0080737 DOID:13359 Ehlers-Danlos syndrome +MONDO:0014243 Schaaf-Yang syndrome MONDO:0002254 DOID:0111715 DOID:225 syndromic disease +MONDO:0014257 nephrotic syndrome, type 9 MONDO:0002350 DOID:0080391 DOID:2590 familial nephrotic syndrome +MONDO:0014259 neuronopathy, distal hereditary motor, type 2D MONDO:0015362 DOID:0111210 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0015974 DOID:0111959 DOID:627 severe combined immunodeficiency +MONDO:0014275 Fanconi renotubular syndrome 3 MONDO:0001083 DOID:0080759 DOID:1062 Fanconi renotubular syndrome +MONDO:0014278 immunodeficiency 18 MONDO:0015974 DOID:0060017 DOID:627 severe combined immunodeficiency +MONDO:0014280 immunodeficiency 19 MONDO:0015974 DOID:0060016 DOID:627 severe combined immunodeficiency +MONDO:0014280 immunodeficiency 19 MONDO:0015974 DOID:0111972 DOID:627 severe combined immunodeficiency +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0019064 DOID:0110817 DOID:2476 hereditary spastic paraplegia +MONDO:0014294 chromosome 15q11.2 deletion syndrome MONDO:0000761 DOID:0060393 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0019064 DOID:0110809 DOID:2476 hereditary spastic paraplegia +MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:0000761 DOID:0060421 DOID:0060388 syndrome caused by partial chromosomal deletion +MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0019064 DOID:0110813 DOID:2476 hereditary spastic paraplegia +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0019064 DOID:0110815 DOID:2476 hereditary spastic paraplegia +MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0019064 DOID:0110812 DOID:2476 hereditary spastic paraplegia +MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0019064 DOID:0110814 DOID:2476 hereditary spastic paraplegia +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0015244 DOID:0080057 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0002254 DOID:0112226 DOID:225 syndromic disease +MONDO:0014321 premature ovarian failure 8 MONDO:0005387 DOID:0080865 DOID:5426 primary ovarian failure +MONDO:0014322 premature ovarian failure 9 MONDO:0005387 DOID:0080866 DOID:5426 primary ovarian failure +MONDO:0014326 nemaline myopathy 9 MONDO:0018958 DOID:0110929 DOID:3191 nemaline myopathy +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0015974 DOID:0111937 DOID:627 severe combined immunodeficiency +MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 MONDO:0015448 DOID:0080116 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014360 developmental and epileptic encephalopathy, 21 MONDO:0100062 DOID:0080443 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 MONDO:0015448 DOID:0080117 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014373 nephrotic syndrome, type 10 MONDO:0002350 DOID:0080386 DOID:2590 familial nephrotic syndrome +MONDO:0014377 developmental and epileptic encephalopathy, 24 MONDO:0100062 DOID:0080429 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014383 myopathy, tubular aggregate, 2 MONDO:0005336 DOID:0080686 DOID:423 myopathy +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 MONDO:0019507 DOID:0110063 DOID:2187 amelogenesis imperfecta +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure MONDO:0019046 DOID:0070396 DOID:10579 leukodystrophy +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0015974 DOID:0111938 DOID:627 severe combined immunodeficiency +MONDO:0014392 developmental and epileptic encephalopathy, 25 MONDO:0100062 DOID:0080453 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 MONDO:0004976 DOID:0060214 DOID:332 amyotrophic lateral sclerosis +MONDO:0014396 dilated cardiomyopathy 1NN MONDO:0005021 DOID:0110432 DOID:12930 dilated cardiomyopathy +MONDO:0014410 spinocerebellar ataxia type 37 MONDO:0020380 DOID:0050984 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0020380 DOID:0050985 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0015974 DOID:0111961 DOID:627 severe combined immunodeficiency +MONDO:0014451 focal segmental glomerulosclerosis 7 MONDO:0100313 DOID:0111132 DOID:1312 focal segmental glomerulosclerosis +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0006025 DOID:0112134 DOID:0050737 autosomal recessive disease +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0018542 DOID:0112134 DOID:0050590 severe congenital neutropenia +MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young MONDO:0001083 DOID:0080760 DOID:1062 Fanconi renotubular syndrome +MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia MONDO:0018555 DOID:0090081 DOID:0090070 hypogonadotropic hypogonadism +MONDO:0014462 focal segmental glomerulosclerosis 8 MONDO:0100313 DOID:0111133 DOID:1312 focal segmental glomerulosclerosis +MONDO:0014466 Neu-Laxova syndrome 2 MONDO:0000421 DOID:0080075 DOID:0050721 inborn serine deficiency +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0006025 DOID:0110203 DOID:0050737 autosomal recessive disease +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0018778 DOID:0110203 DOID:0050543 intermediate Charcot-Marie-Tooth disease +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0004069 DOID:0111143 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0014475 spinocerebellar ataxia type 40 MONDO:0020380 DOID:0050986 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014477 developmental and epileptic encephalopathy, 26 MONDO:0100062 DOID:0080461 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014485 pontocerebellar hypoplasia, type 1C MONDO:0006025 DOID:0112334 DOID:0050737 autosomal recessive disease +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0015194 DOID:0080209 DOID:8955 sideroblastic anemia +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0006025 DOID:0112381 DOID:0050737 autosomal recessive disease +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0018276 DOID:0112381 DOID:0112374 muscular dystrophy-dystroglycanopathy +MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 MONDO:0015448 DOID:0080118 DOID:0111139 mitochondrial complex III deficiency +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0015244 DOID:0080064 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014507 Catel-Manzke syndrome MONDO:0005381 DOID:0081122 DOID:0080001 bone disorder +MONDO:0014513 nemaline myopathy 10 MONDO:0018958 DOID:0110931 DOID:3191 nemaline myopathy +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0002254 DOID:0111264 DOID:225 syndromic disease +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:0015244 DOID:0080042 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014531 amyotrophic lateral sclerosis type 22 MONDO:0004976 DOID:0060355 DOID:332 amyotrophic lateral sclerosis +MONDO:0014533 developmental and epileptic encephalopathy, 28 MONDO:0100062 DOID:0080452 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014539 focal segmental glomerulosclerosis 9 MONDO:0100313 DOID:0111134 DOID:1312 focal segmental glomerulosclerosis +MONDO:0014540 amelogenesis imperfecta type 1H MONDO:0019507 DOID:0110064 DOID:2187 amelogenesis imperfecta +MONDO:0014543 congenital myasthenic syndrome 14 MONDO:0018940 DOID:0110669 DOID:3635 congenital myasthenic syndrome +MONDO:0014544 osteogenesis imperfecta type 16 MONDO:0019019 DOID:0110345 DOID:12347 osteogenesis imperfecta +MONDO:0014548 long QT syndrome 14 MONDO:0002442 DOID:0110655 DOID:2843 long QT syndrome +MONDO:0014550 long QT syndrome 15 MONDO:0002442 DOID:0110656 DOID:2843 long QT syndrome +MONDO:0014555 peeling skin syndrome type A MONDO:0019347 DOID:0070522 DOID:0060283 peeling skin syndrome +MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0015244 DOID:0081383 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014560 amelogenesis imperfecta type 1F MONDO:0019507 DOID:0110065 DOID:2187 amelogenesis imperfecta +MONDO:0014565 cataract 43 MONDO:0005129 DOID:0110259 DOID:83 cataract +MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0019064 DOID:0110818 DOID:2476 hereditary spastic paraplegia +MONDO:0014571 optic atrophy 9 MONDO:0003608 DOID:0111442 DOID:5723 optic atrophy +MONDO:0014578 congenital myasthenic syndrome 17 MONDO:0018940 DOID:0110674 DOID:3635 congenital myasthenic syndrome +MONDO:0014581 congenital myasthenic syndrome 2A MONDO:0018940 DOID:0110681 DOID:3635 congenital myasthenic syndrome +MONDO:0014582 congenital myasthenic syndrome 2C MONDO:0018940 DOID:0110680 DOID:3635 congenital myasthenic syndrome +MONDO:0014583 congenital myasthenic syndrome 3A MONDO:0018940 DOID:0110666 DOID:3635 congenital myasthenic syndrome +MONDO:0014584 congenital myasthenic syndrome 3B MONDO:0018940 DOID:0110665 DOID:3635 congenital myasthenic syndrome +MONDO:0014585 congenital myasthenic syndrome 3C MONDO:0018940 DOID:0110664 DOID:3635 congenital myasthenic syndrome +MONDO:0014586 congenital myasthenic syndrome 4B MONDO:0018940 DOID:0110677 DOID:3635 congenital myasthenic syndrome +MONDO:0014587 congenital myasthenic syndrome 9 MONDO:0018940 DOID:0110670 DOID:3635 congenital myasthenic syndrome +MONDO:0014588 congenital myasthenic syndrome 11 MONDO:0018940 DOID:0110675 DOID:3635 congenital myasthenic syndrome +MONDO:0014591 autosomal dominant Robinow syndrome 2 MONDO:0000426 DOID:0060765 DOID:0050736 autosomal dominant disease +MONDO:0014591 autosomal dominant Robinow syndrome 2 MONDO:0019978 DOID:0060765 DOID:0060254 Robinow syndrome +MONDO:0014593 developmental and epileptic encephalopathy, 29 MONDO:0100062 DOID:0080451 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014598 developmental and epileptic encephalopathy, 31A MONDO:0100062 DOID:0080437 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014607 developmental and epileptic encephalopathy, 32 MONDO:0100062 DOID:0080416 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014625 developmental and epileptic encephalopathy, 33 MONDO:0100062 DOID:0080463 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014626 spinocerebellar ataxia type 41 MONDO:0020380 DOID:0111744 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0002254 DOID:0081242 DOID:225 syndromic disease +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0004976 DOID:0110068 DOID:332 amyotrophic lateral sclerosis +MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 MONDO:0004976 DOID:0110069 DOID:332 amyotrophic lateral sclerosis +MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0019064 DOID:0110819 DOID:2476 hereditary spastic paraplegia +MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MONDO:0005181 DOID:0111515 DOID:12558 progressive external ophthalmoplegia +MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 DOID:0060792 DOID:0060786 leukodystrophy +MONDO:0014672 osteogenesis imperfecta type 17 MONDO:0019019 DOID:0110338 DOID:12347 osteogenesis imperfecta +MONDO:0014673 cataract 44 MONDO:0005129 DOID:0110267 DOID:83 cataract +MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly MONDO:0006025 DOID:0110096 DOID:0050737 autosomal recessive disease +MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive MONDO:0000359 DOID:0112360 DOID:0050568 spondylocostal dysostosis +MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive MONDO:0006025 DOID:0112360 DOID:0050737 autosomal recessive disease +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0019064 DOID:0110825 DOID:2476 hereditary spastic paraplegia +MONDO:0014718 developmental and epileptic encephalopathy, 34 MONDO:0100062 DOID:0080460 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0000426 DOID:0111340 DOID:0050736 autosomal dominant disease +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0019064 DOID:0110820 DOID:2476 hereditary spastic paraplegia +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:0015776 DOID:0110854 DOID:2580 rhizomelic chondrodysplasia punctata +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015244 DOID:0111155 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014745 congenital myasthenic syndrome 19 MONDO:0018940 DOID:0110673 DOID:3635 congenital myasthenic syndrome +MONDO:0014752 nephrotic syndrome, type 11 MONDO:0002350 DOID:0080385 DOID:2590 familial nephrotic syndrome +MONDO:0014772 orofacial cleft 15 MONDO:0000358 DOID:0080408 DOID:0050567 orofacial cleft +MONDO:0014776 spinocerebellar ataxia type 42 MONDO:0020380 DOID:0111742 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0014799 cataract 45 MONDO:0005129 DOID:0110262 DOID:83 cataract +MONDO:0014804 sideroblastic anemia 3 MONDO:0006025 DOID:0080343 DOID:0050737 autosomal recessive disease +MONDO:0014804 sideroblastic anemia 3 MONDO:0015194 DOID:0080343 DOID:8955 sideroblastic anemia +MONDO:0014808 congenital secretory sodium diarrhea 8 MONDO:0000249 DOID:0060777 DOID:0050129 secretory diarrhea +MONDO:0014817 nephrotic syndrome, type 12 MONDO:0002350 DOID:0080387 DOID:2590 familial nephrotic syndrome +MONDO:0014818 nephrotic syndrome, type 13 MONDO:0002350 DOID:0080381 DOID:2590 familial nephrotic syndrome +MONDO:0014819 autosomal dominant Robinow syndrome 3 MONDO:0000426 DOID:0060767 DOID:0050736 autosomal dominant disease +MONDO:0014819 autosomal dominant Robinow syndrome 3 MONDO:0019978 DOID:0060767 DOID:0060254 Robinow syndrome +MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0019064 DOID:0110821 DOID:2476 hereditary spastic paraplegia +MONDO:0014840 agammaglobulinemia 8, autosomal dominant MONDO:0015977 DOID:0081140 DOID:2583 agammaglobulinemia +MONDO:0014843 premature ovarian failure 11 MONDO:0005387 DOID:0080868 DOID:5426 primary ovarian failure +MONDO:0014843 premature ovarian failure 11 MONDO:0005387 DOID:0080869 DOID:5426 primary ovarian failure +MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0015244 DOID:0111613 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0006025 DOID:0112129 DOID:0050737 autosomal recessive disease +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0018542 DOID:0112129 DOID:0050590 severe congenital neutropenia +MONDO:0014894 Meier-Gorlin syndrome 7 MONDO:0006025 DOID:0080518 DOID:0050737 autosomal recessive disease +MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MONDO:0005181 DOID:0111523 DOID:12558 progressive external ophthalmoplegia +MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MONDO:0006025 DOID:0111523 DOID:0050737 autosomal recessive disease +MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0005181 DOID:0111516 DOID:12558 progressive external ophthalmoplegia +MONDO:0014916 developmental and epileptic encephalopathy, 41 MONDO:0100062 DOID:0080442 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014917 developmental and epileptic encephalopathy, 42 MONDO:0100062 DOID:0080454 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014921 developmental and epileptic encephalopathy, 43 MONDO:0100062 DOID:0080447 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014933 developmental and epileptic encephalopathy, 44 MONDO:0100062 DOID:0080424 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014942 developmental and epileptic encephalopathy, 45 MONDO:0100062 DOID:0080428 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014947 developmental and epileptic encephalopathy, 46 MONDO:0100062 DOID:0080456 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014949 developmental and epileptic encephalopathy, 47 MONDO:0100062 DOID:0080425 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 MONDO:0006025 DOID:0112104 DOID:0050737 autosomal recessive disease +MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 MONDO:0020066 DOID:0080987 DOID:13359 Ehlers-Danlos syndrome +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 MONDO:0019507 DOID:0080960 DOID:2187 amelogenesis imperfecta +MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0019064 DOID:0112348 DOID:2476 hereditary spastic paraplegia +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0003441 DOID:0081419 DOID:543 dystonic disorder +MONDO:0015004 dystonia 28, childhood-onset MONDO:0003441 DOID:0060936 DOID:543 dystonic disorder +MONDO:0015008 amelogenesis imperfecta, type 1J MONDO:0019507 DOID:0080953 DOID:2187 amelogenesis imperfecta +MONDO:0015011 optic atrophy 11 MONDO:0003608 DOID:0111436 DOID:5723 optic atrophy +MONDO:0015059 progressive non-fluent aphasia MONDO:0019806 DOID:0081390 DOID:0081388 primary progressive aphasia +MONDO:0015175 autoimmune pancreatitis MONDO:0002356 DOID:0040091 DOID:26 pancreas disorder +MONDO:0015200 anisakiasis MONDO:0004664 DOID:7033 DOID:883 helminthiasis +MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0000437 DOID:0050950 DOID:0050753 cerebellar ataxia +MONDO:0015260 diphyllobothriasis MONDO:0004664 DOID:10075 DOID:883 helminthiasis +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0015075 DOID:3973 DOID:3963 thyroid gland carcinoma +MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0005093 DOID:2058 DOID:37 skin disorder +MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0021060 DOID:0060233 DOID:0080690 RASopathy +MONDO:0015288 herpes simplex virus keratitis MONDO:0003085 DOID:0080158 DOID:4677 keratitis +MONDO:0015301 primary cutaneous amyloidosis MONDO:0005093 DOID:0050639 DOID:37 skin disorder +MONDO:0015364 hereditary sensory and autonomic neuropathy MONDO:0005244 DOID:0050548 DOID:870 peripheral neuropathy +MONDO:0015375 orofaciodigital syndrome MONDO:0002254 DOID:4501 DOID:225 syndromic disease +MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0006500 DOID:0080895 DOID:255 hemangioma +MONDO:0015408 diffuse lymphatic malformation MONDO:0005833 DOID:0081031 DOID:75 lymphatic system disorder +MONDO:0015448 mitochondrial complex III deficiency MONDO:0004069 DOID:0111139 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0015454 multiple carboxylase deficiency MONDO:0004736 DOID:857 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0015459 nasopharyngeal carcinoma MONDO:0000376 DOID:9261 DOID:0050615 respiratory system cancer +MONDO:0015459 nasopharyngeal carcinoma MONDO:0004821 DOID:9261 DOID:9561 nasopharyngeal disorder +MONDO:0015459 nasopharyngeal carcinoma MONDO:0004993 DOID:9261 DOID:305 carcinoma +MONDO:0015459 nasopharyngeal carcinoma MONDO:0005517 DOID:9261 DOID:0060119 pharynx cancer +MONDO:0015465 craniometaphyseal dysplasia MONDO:0002933 DOID:0080033 DOID:4254 osteosclerosis +MONDO:0015474 cryptosporidiosis MONDO:0005020 DOID:1733 DOID:5295 intestinal disorder +MONDO:0015517 common variable immunodeficiency MONDO:0015977 DOID:12177 DOID:2583 agammaglobulinemia +MONDO:0015597 pustulosis palmaris et plantaris MONDO:0002406 DOID:4398 DOID:2723 dermatitis +MONDO:0015609 advanced sleep phase syndrome MONDO:0003406 DOID:0050628 DOID:535 sleep-wake disorder +MONDO:0015626 Charcot-Marie-Tooth disease MONDO:0019056 DOID:10595 DOID:440 neuromuscular disease +MONDO:0015643 photosensitive epilepsy MONDO:0005027 DOID:0060281 DOID:1826 epilepsy +MONDO:0015691 hypereosinophilic syndrome MONDO:0004805 DOID:999 DOID:9500 leukocyte disorder +MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency MONDO:0015974 DOID:0060014 DOID:627 severe combined immunodeficiency +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0006025 DOID:0111216 DOID:0050737 autosomal recessive disease +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0001531 DOID:0112172 DOID:1247 blood coagulation disease +MONDO:0015748 hereditary mucosal leukokeratosis MONDO:0005093 DOID:0050448 DOID:37 skin disorder +MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0019072 DOID:0070221 DOID:1852 intrahepatic cholestasis +MONDO:0015780 dyskeratosis congenita MONDO:0005093 DOID:2729 DOID:37 skin disorder +MONDO:0015797 UV-sensitive syndrome MONDO:0005093 DOID:0060240 DOID:37 skin disorder +MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:0000426 DOID:0060307 DOID:0050736 autosomal dominant disease +MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO:0001071 DOID:0060307 DOID:1059 intellectual disability +MONDO:0015803 wound botulism MONDO:0005498 DOID:0050353 DOID:11976 botulism +MONDO:0015804 infant botulism MONDO:0005498 DOID:0050354 DOID:11976 botulism +MONDO:0015805 intestinal botulism MONDO:0005498 DOID:0050141 DOID:11976 botulism +MONDO:0015864 mixed germ cell tumor MONDO:0005040 DOID:3306 DOID:2994 germ cell tumor +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0018882 DOID:3049 DOID:865 vasculitis +MONDO:0015993 cone-rod dystrophy MONDO:0004580 DOID:0050572 DOID:8466 retinal degeneration +MONDO:0016047 endophthalmitis MONDO:0005328 DOID:4692 DOID:1242 eye disorder +MONDO:0016107 myotonic dystrophy MONDO:0020121 DOID:450 DOID:9884 muscular dystrophy +MONDO:0016162 bilateral frontal polymicrogyria MONDO:0000087 DOID:0080921 DOID:0080918 polymicrogyria +MONDO:0016239 cystinosis MONDO:0002561 DOID:1064 DOID:3211 lysosomal storage disease +MONDO:0016256 Hennekam syndrome MONDO:0005833 DOID:0060366 DOID:75 lymphatic system disorder +MONDO:0016367 dermatomyositis MONDO:0005093 DOID:10223 DOID:37 skin disorder +MONDO:0016367 dermatomyositis MONDO:0021167 DOID:10223 DOID:633 myositis disease +MONDO:0016390 familial hypoparathyroidism MONDO:0001220 DOID:0111387 DOID:11199 hypoparathyroidism +MONDO:0016391 neonatal diabetes mellitus MONDO:0005015 DOID:11717 DOID:9351 diabetes mellitus +MONDO:0016472 dracunculiasis MONDO:0004664 DOID:14418 DOID:883 helminthiasis +MONDO:0016486 beta-thalassemia major MONDO:0019402 DOID:0080771 DOID:12241 beta thalassemia +MONDO:0016487 beta-thalassemia intermedia MONDO:0019402 DOID:0080772 DOID:12241 beta thalassemia +MONDO:0016576 split hand-foot malformation MONDO:0005497 DOID:0090020 DOID:0080006 bone development disease +MONDO:0016612 X-linked cerebellar ataxia MONDO:0100309 DOID:0050953 DOID:0050951 hereditary ataxia +MONDO:0016649 Warburg micro syndrome MONDO:0002254 DOID:0060237 DOID:225 syndromic disease +MONDO:0016681 gliosarcoma MONDO:0018177 DOID:3071 DOID:3068 glioblastoma +MONDO:0016682 giant cell glioblastoma MONDO:0018177 DOID:3074 DOID:3068 glioblastoma +MONDO:0016683 gliomatosis cerebri MONDO:0001657 DOID:6128 DOID:1319 brain cancer +MONDO:0016684 anaplastic astrocytoma MONDO:0021636 DOID:3078 DOID:3069 astrocytic tumor +MONDO:0016686 diffuse astrocytoma MONDO:0021637 DOID:4857 DOID:0080829 low grade glioma +MONDO:0016687 protoplasmic astrocytoma MONDO:0021636 DOID:7008 DOID:3069 astrocytic tumor +MONDO:0016688 fibrillary astrocytoma MONDO:0021636 DOID:6726 DOID:3069 astrocytic tumor +MONDO:0016689 gemistocytic astrocytoma MONDO:0021636 DOID:7005 DOID:3069 astrocytic tumor +MONDO:0016690 pleomorphic xanthoastrocytoma MONDO:0021637 DOID:4852 DOID:0080829 low grade glioma +MONDO:0016695 oligodendroglioma MONDO:0100342 DOID:3181 DOID:3070 malignant glioma +MONDO:0016698 ependymoma MONDO:0021637 DOID:4844 DOID:0080829 low grade glioma +MONDO:0016700 anaplastic ependymoma MONDO:0100342 DOID:5074 DOID:3070 malignant glioma +MONDO:0016706 chordoid glioma of the third ventricle MONDO:0100342 DOID:3774 DOID:3070 malignant glioma +MONDO:0016748 hemangioblastoma MONDO:0006500 DOID:5241 DOID:255 hemangioma +MONDO:0016787 epithelioid trophoblastic tumor MONDO:0002872 DOID:3593 DOID:4085 trophoblastic neoplasm +MONDO:0016824 infantile myofibromatosis MONDO:0000654 DOID:0080109 DOID:0060123 benign connective and soft tissue neoplasm +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0020121 DOID:11726 DOID:9884 muscular dystrophy +MONDO:0016955 partial duplication of the long arm of chromosome 4 MONDO:0000762 DOID:0111159 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0016971 limb-girdle muscular dystrophy MONDO:0020121 DOID:11724 DOID:9884 muscular dystrophy +MONDO:0016987 neuroacanthocytosis MONDO:0005559 DOID:0050765 DOID:1289 neurodegenerative disease +MONDO:0017043 congenital mesoblastic nephroma MONDO:0002367 DOID:4773 DOID:263 kidney cancer +MONDO:0017048 pseudomyxoma peritonei MONDO:0001235 DOID:3559 DOID:11239 appendix cancer +MONDO:0017093 unilateral focal polymicrogyria MONDO:0000087 DOID:0080919 DOID:0080918 polymicrogyria +MONDO:0017169 multiple endocrine neoplasia MONDO:0002254 DOID:3125 DOID:225 syndromic disease +MONDO:0017178 osteochondritis dissecans MONDO:0005380 DOID:84 DOID:0080008 osteonecrosis +MONDO:0017198 osteopetrosis MONDO:0002933 DOID:13533 DOID:4254 osteosclerosis +MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:0019269 DOID:0060655 DOID:1697 ichthyosis +MONDO:0017276 frontotemporal dementia MONDO:0001627 DOID:9255 DOID:1307 dementia +MONDO:0017319 hereditary elliptocytosis MONDO:0005570 DOID:2373 DOID:74 hematologic disorder +MONDO:0017324 autosomal recessive hypophosphatemic rickets MONDO:0005520 DOID:0050949 DOID:10609 rickets +MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome MONDO:0004069 DOID:0070330 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0017359 3-methylglutaconic aciduria MONDO:0000688 DOID:0060336 DOID:0060159 inborn organic aciduria +MONDO:0017373 poliomyelitis MONDO:0005108 DOID:4953 DOID:934 viral infectious disease +MONDO:0017387 epithelioid sarcoma MONDO:0005089 DOID:6193 DOID:1115 sarcoma +MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form MONDO:0000591 DOID:0070534 DOID:0060036 intrinsic cardiomyopathy +MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form MONDO:0000591 DOID:0070535 DOID:0060036 intrinsic cardiomyopathy +MONDO:0017410 porencephaly MONDO:0005560 DOID:0060263 DOID:936 brain disorder +MONDO:0017435 popliteal pterygium syndrome MONDO:0002254 DOID:0060055 DOID:225 syndromic disease +MONDO:0017570 leukocyte adhesion deficiency MONDO:0004805 DOID:6612 DOID:9500 leukocyte disorder +MONDO:0017572 tick-borne encephalitis MONDO:0005108 DOID:0050175 DOID:934 viral infectious disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0004993 DOID:4916 DOID:305 carcinoma +MONDO:0017590 carcinoma of the ampulla of vater MONDO:0004993 DOID:4932 DOID:305 carcinoma +MONDO:0017604 marginal zone lymphoma MONDO:0004095 DOID:0050748 DOID:707 B-cell neoplasm +MONDO:0017610 epidermolysis bullosa simplex MONDO:0006541 DOID:4644 DOID:2730 epidermolysis bullosa +MONDO:0017612 junctional epidermolysis bullosa MONDO:0006541 DOID:3209 DOID:2730 epidermolysis bullosa +MONDO:0017675 punctate palmoplantar keratoderma MONDO:0006590 DOID:0060361 DOID:3390 palmoplantar keratosis +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0002561 DOID:0112317 DOID:3211 lysosomal storage disease +MONDO:0017795 ameloblastoma MONDO:0005165 DOID:0050894 DOID:0060084 benign neoplasm +MONDO:0017810 variant ABeta2M amyloidosis MONDO:0019052 DOID:0080929 DOID:655 inborn errors of metabolism +MONDO:0017810 variant ABeta2M amyloidosis MONDO:0019065 DOID:0080929 DOID:9120 amyloidosis +MONDO:0017814 primary bone lymphoma MONDO:0005062 DOID:6759 DOID:0060058 lymphoma +MONDO:0017851 erythrokeratodermia variabilis MONDO:0005093 DOID:0050467 DOID:37 skin disorder +MONDO:0017853 hypersensitivity pneumonitis MONDO:0005271 DOID:841 DOID:1205 allergic disease +MONDO:0017858 acute erythroid leukemia MONDO:0018874 DOID:0080780 DOID:9119 acute myeloid leukemia +MONDO:0017872 Lujo hemorrhagic fever MONDO:0005108 DOID:0050202 DOID:934 viral infectious disease +MONDO:0017874 Argentine hemorrhagic fever MONDO:0005108 DOID:0050194 DOID:934 viral infectious disease +MONDO:0017875 Bolivian hemorrhagic fever MONDO:0005108 DOID:0050195 DOID:934 viral infectious disease +MONDO:0017876 Venezuelan hemorrhagic fever MONDO:0005108 DOID:0050196 DOID:934 viral infectious disease +MONDO:0017877 Brazilian hemorrhagic fever MONDO:0005108 DOID:0050197 DOID:934 viral infectious disease +MONDO:0017878 Chapare hemorrhagic fever MONDO:0005108 DOID:0050198 DOID:934 viral infectious disease +MONDO:0017879 hantavirus pulmonary syndrome MONDO:0005108 DOID:14472 DOID:934 viral infectious disease +MONDO:0017880 Rift valley fever MONDO:0005108 DOID:1328 DOID:934 viral infectious disease +MONDO:0017881 Kyasanur forest disease MONDO:0005108 DOID:11320 DOID:934 viral infectious disease +MONDO:0017882 Omsk hemorrhagic fever MONDO:0005108 DOID:992 DOID:934 viral infectious disease +MONDO:0017884 papillary renal cell carcinoma MONDO:0005086 DOID:4465 DOID:4450 renal cell carcinoma +MONDO:0017885 chromophobe renal cell carcinoma MONDO:0005086 DOID:4471 DOID:4450 renal cell carcinoma +MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:0003664 DOID:0111575 DOID:583 hemolytic anemia +MONDO:0017923 multiple synostoses syndrome MONDO:0018234 DOID:0050794 DOID:1934 dysostosis +MONDO:0017941 chikungunya MONDO:0005108 DOID:0050012 DOID:934 viral infectious disease +MONDO:0017991 Takayasu arteritis MONDO:0000473 DOID:2508 DOID:0050828 arterial disorder +MONDO:0017991 Takayasu arteritis MONDO:0018882 DOID:2508 DOID:865 vasculitis +MONDO:0018018 wild type ATTR amyloidosis MONDO:0005267 DOID:0080937 DOID:114 heart disorder +MONDO:0018029 congenital factor XIII deficiency MONDO:0001531 DOID:2211 DOID:1247 blood coagulation disease +MONDO:0018053 trichothiodystrophy MONDO:0002254 DOID:0111866 DOID:225 syndromic disease +MONDO:0018068 trisomy 13 MONDO:0019040 DOID:11665 DOID:0080014 chromosomal disorder +MONDO:0018106 hereditary xanthinuria MONDO:0019254 DOID:0060236 DOID:653 inborn disorder of purine or pyrimidine metabolism +MONDO:0018116 galactosemia MONDO:0019214 DOID:9870 DOID:2978 inborn carbohydrate metabolic disorder +MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0005395 DOID:0070490 DOID:480 movement disorder +MONDO:0018151 coenzyme Q10 deficiency MONDO:0004069 DOID:0050730 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0018155 lateral sclerosis MONDO:0020128 DOID:230 DOID:231 motor neuron disorder +MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:0004069 DOID:0070329 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0018177 glioblastoma MONDO:0021636 DOID:3068 DOID:3069 astrocytic tumor +MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0005093 DOID:9063 DOID:37 skin disorder +MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0001516 DOID:0070348 DOID:12377 spinal muscular atrophy +MONDO:0018229 Stevens-Johnson syndrome MONDO:0005093 DOID:0050426 DOID:37 skin disorder +MONDO:0018301 interstitial cystitis MONDO:0006032 DOID:13949 DOID:1679 cystitis +MONDO:0018306 Griscelli syndrome MONDO:0002051 DOID:0060831 DOID:16 integumentary system disorder +MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:0005559 DOID:0110734 DOID:1289 neurodegenerative disease +MONDO:0018319 familial episodic pain syndrome MONDO:0005244 DOID:0111728 DOID:870 peripheral neuropathy +MONDO:0018368 primary peritoneal serous/papillary carcinoma MONDO:0003195 DOID:6228 DOID:4901 peritoneal serous adenocarcinoma +MONDO:0018369 immature ovarian teratoma MONDO:0018171 DOID:6331 DOID:2155 malignant germ cell tumor of ovary +MONDO:0018408 cystic echinococcosis MONDO:0005738 DOID:1495 DOID:1496 echinococcosis +MONDO:0018470 renal agenesis MONDO:0005240 DOID:14766 DOID:557 kidney disorder +MONDO:0018513 squamous cell carcinoma of colon MONDO:0005096 DOID:5519 DOID:1749 squamous cell carcinoma +MONDO:0018515 squamous cell carcinoma of rectum MONDO:0005096 DOID:5528 DOID:1749 squamous cell carcinoma +MONDO:0018515 squamous cell carcinoma of rectum MONDO:0006519 DOID:5528 DOID:1993 rectal cancer +MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0009831 DOID:0080323 DOID:1793 malignant pancreatic neoplasm +MONDO:0018542 severe congenital neutropenia MONDO:0001475 DOID:0050590 DOID:1227 neutropenia +MONDO:0018570 hypophosphatasia MONDO:0000429 DOID:14213 DOID:0050739 autosomal genetic disease +MONDO:0018626 paratyphoid fever MONDO:0000314 DOID:3055 DOID:0050338 primary bacterial infectious disease +MONDO:0018661 Zika virus infectious disease MONDO:0005108 DOID:0060478 DOID:934 viral infectious disease +MONDO:0018666 hepatoblastoma MONDO:0002691 DOID:687 DOID:3571 liver cancer +MONDO:0018687 progressive muscular atrophy MONDO:0020128 DOID:318 DOID:231 motor neuron disorder +MONDO:0018767 severe primary trimethylaminuria MONDO:0019052 DOID:0080361 DOID:655 inborn errors of metabolism +MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0003000 DOID:7232 DOID:4439 central nervous system germ cell tumor +MONDO:0018865 striate palmoplantar keratoderma MONDO:0006590 DOID:0081105 DOID:3390 palmoplantar keratosis +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0000429 DOID:0050629 DOID:0050739 autosomal genetic disease +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0002254 DOID:0050629 DOID:225 syndromic disease +MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0018874 DOID:0081082 DOID:9119 acute myeloid leukemia +MONDO:0018872 acute megakaryoblastic leukemia MONDO:0018874 DOID:8761 DOID:9119 acute myeloid leukemia +MONDO:0018875 Li-Fraumeni syndrome MONDO:0002254 DOID:3012 DOID:225 syndromic disease +MONDO:0018876 mantle cell lymphoma MONDO:0004095 DOID:0050746 DOID:707 B-cell neoplasm +MONDO:0018906 follicular lymphoma MONDO:0004095 DOID:0050873 DOID:707 B-cell neoplasm +MONDO:0018911 maturity-onset diabetes of the young MONDO:0005015 DOID:0050524 DOID:9351 diabetes mellitus +MONDO:0018920 peripartum cardiomyopathy MONDO:0005021 DOID:9997 DOID:12930 dilated cardiomyopathy +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0019248 DOID:0080071 DOID:0080488 mucolipidosis +MONDO:0018943 myofibrillar myopathy MONDO:0005336 DOID:0080307 DOID:423 myopathy +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0004736 DOID:0050710 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0018958 nemaline myopathy MONDO:0019952 DOID:3191 DOID:0081337 congenital myopathy +MONDO:0018992 IgG4-related thyroid disease MONDO:0004126 DOID:14351 DOID:7166 thyroiditis +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0015244 DOID:0050755 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0018997 Noonan syndrome MONDO:0021060 DOID:3490 DOID:0080690 RASopathy +MONDO:0018998 Leber congenital amaurosis MONDO:0005283 DOID:14791 DOID:5679 retinal disorder +MONDO:0019005 nephronophthisis MONDO:0005240 DOID:12712 DOID:557 kidney disorder +MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0019072 DOID:0070230 DOID:1852 intrahepatic cholestasis +MONDO:0019012 Carpenter syndrome MONDO:0019796 DOID:0060234 DOID:12960 acrocephalosyndactyly +MONDO:0019023 cutaneous mastocytosis MONDO:0005093 DOID:3663 DOID:37 skin disorder +MONDO:0019024 mast cell sarcoma MONDO:0002724 DOID:355 DOID:3664 mast cell neoplasm +MONDO:0019025 extracutaneous mastocytoma MONDO:0002724 DOID:4659 DOID:3664 mast cell neoplasm +MONDO:0019065 amyloidosis MONDO:0005066 DOID:9120 DOID:0014667 metabolic disease +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MONDO:0002254 DOID:0111360 DOID:225 syndromic disease +MONDO:0019086 carcinoma of esophagus MONDO:0004993 DOID:1107 DOID:305 carcinoma +MONDO:0019087 cholangiocarcinoma MONDO:0003193 DOID:4947 DOID:4896 bile duct adenocarcinoma +MONDO:0019107 Rh deficiency syndrome MONDO:0003664 DOID:0050641 DOID:583 hemolytic anemia +MONDO:0019118 inherited retinal dystrophy MONDO:0005328 DOID:8501 DOID:5614 eye disorder +MONDO:0019121 pneumocystosis MONDO:0005275 DOID:11339 DOID:850 lung disorder +MONDO:0019122 idiopathic acute eosinophilic pneumonia MONDO:0005749 DOID:9503 DOID:5870 eosinophilic pneumonia +MONDO:0019127 polymyositis MONDO:0021167 DOID:0080745 DOID:633 myositis disease +MONDO:0019142 inherited porphyria MONDO:0019052 DOID:13268 DOID:655 inborn errors of metabolism +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:0002305 DOID:3756 DOID:2452 thrombophilia +MONDO:0019154 androgen insensitivity syndrome MONDO:0002145 DOID:4674 DOID:1923 disorder of sexual differentiation +MONDO:0019159 Loeffler endocarditis MONDO:0005201 DOID:396 DOID:397 restrictive cardiomyopathy +MONDO:0019165 central precocious puberty MONDO:0005151 DOID:0112308 DOID:28 endocrine system disorder +MONDO:0019168 pyomyositis MONDO:0021167 DOID:876 DOID:633 myositis disease +MONDO:0019170 polyarteritis nodosa MONDO:0018882 DOID:9810 DOID:865 vasculitis +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0005385 DOID:1270 DOID:178 vascular disorder +MONDO:0019181 non-syndromic X-linked intellectual disability MONDO:0000425 DOID:0050776 DOID:0050735 X-linked disease +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0000426 DOID:1933 DOID:0050736 autosomal dominant disease +MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0002254 DOID:1933 DOID:225 syndromic disease +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0007179 DOID:12900 DOID:417 autoimmune disease +MONDO:0019200 retinitis pigmentosa MONDO:0004580 DOID:10584 DOID:8466 retinal degeneration +MONDO:0019202 myxofibrosarcoma MONDO:0005089 DOID:0080534 DOID:1115 sarcoma +MONDO:0019209 Japanese encephalitis MONDO:0005108 DOID:10844 DOID:934 viral infectious disease +MONDO:0019209 Japanese encephalitis MONDO:0005560 DOID:10844 DOID:936 brain disorder +MONDO:0019238 inborn disorder of pyrimidine metabolism MONDO:0019052 DOID:0050832 DOID:655 inborn errors of metabolism +MONDO:0019266 SAPHO syndrome MONDO:0002254 DOID:13677 DOID:225 syndromic disease +MONDO:0019269 ichthyosis MONDO:0005093 DOID:1697 DOID:37 skin disorder +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0017612 DOID:0060738 DOID:3209 junctional epidermolysis bullosa +MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0002254 DOID:3753 DOID:225 syndromic disease +MONDO:0019313 lymphatic malformation MONDO:0019297 DOID:0050580 DOID:4977 lymphedema +MONDO:0019347 peeling skin syndrome MONDO:0005093 DOID:0060283 DOID:37 skin disorder +MONDO:0019376 West-Nile encephalitis MONDO:0005108 DOID:2365 DOID:934 viral infectious disease +MONDO:0019376 West-Nile encephalitis MONDO:0005560 DOID:2365 DOID:936 brain disorder +MONDO:0019378 la Crosse encephalitis MONDO:0005108 DOID:0050118 DOID:934 viral infectious disease +MONDO:0019378 la Crosse encephalitis MONDO:0005560 DOID:0050118 DOID:936 brain disorder +MONDO:0019380 western equine encephalitis MONDO:0005108 DOID:10843 DOID:934 viral infectious disease +MONDO:0019380 western equine encephalitis MONDO:0005560 DOID:10843 DOID:936 brain disorder +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0005156 DOID:639 DOID:640 encephalomyelitis +MONDO:0019384 encephalitis lethargica MONDO:0019956 DOID:5225 DOID:9588 encephalitis +MONDO:0019438 AL amyloidosis MONDO:0005267 DOID:0080933 DOID:114 heart disorder +MONDO:0019444 trichinellosis MONDO:0004664 DOID:9784 DOID:883 helminthiasis +MONDO:0019458 acute basophilic leukemia MONDO:0018874 DOID:0080795 DOID:9119 acute myeloid leukemia +MONDO:0019470 aggressive NK-cell leukemia MONDO:0005059 DOID:1035 DOID:1240 leukemia +MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0005108 DOID:0050523 DOID:934 viral infectious disease +MONDO:0019480 Langerhans cell sarcoma MONDO:0004805 DOID:7146 DOID:9500 leukocyte disorder +MONDO:0019480 Langerhans cell sarcoma MONDO:0005089 DOID:7146 DOID:1115 sarcoma +MONDO:0019480 Langerhans cell sarcoma MONDO:0006247 DOID:7146 DOID:5621 histiocytic and dendritic cell neoplasm +MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0002409 DOID:0050563 DOID:2742 auditory system disorder +MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO:0001071 DOID:0060308 DOID:1059 intellectual disability +MONDO:0019508 van der Woude syndrome MONDO:0002254 DOID:0060239 DOID:225 syndromic disease +MONDO:0019526 erythema elevatum diutinum MONDO:0018882 DOID:0060567 DOID:865 vasculitis +MONDO:0019538 Gaisbock syndrome MONDO:0002438 DOID:2838 DOID:2834 acquired polycythemia +MONDO:0019557 chilblain lupus MONDO:0005282 DOID:0060386 DOID:0050169 cutaneous lupus erythematosus +MONDO:0019565 hereditary von Willebrand disease MONDO:0001531 DOID:12531 DOID:1247 blood coagulation disease +MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 MONDO:0000426 DOID:14720 DOID:0050736 autosomal dominant disease +MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 MONDO:0020066 DOID:14720 DOID:13359 Ehlers-Danlos syndrome +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 MONDO:0000426 DOID:0080726 DOID:0050736 autosomal dominant disease +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 MONDO:0020066 DOID:0080726 DOID:13359 Ehlers-Danlos syndrome +MONDO:0019571 autosomal dominant cutis laxa MONDO:0016175 DOID:0070142 DOID:3144 cutis laxa +MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0016175 DOID:0070144 DOID:3144 cutis laxa +MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0000425 DOID:0050566 DOID:0050735 X-linked disease +MONDO:0019591 panhypopituitarism MONDO:0005152 DOID:9410 DOID:9406 hypopituitarism +MONDO:0019609 Zellweger spectrum disorders MONDO:0006025 DOID:905 DOID:0050737 autosomal recessive disease +MONDO:0019610 Zollinger-Ellison syndrome MONDO:0002254 DOID:0050782 DOID:225 syndromic disease +MONDO:0019669 hypochondrogenesis MONDO:0005516 DOID:0080044 DOID:2256 osteochondrodysplasia +MONDO:0019719 congenital anomaly of kidney and urinary tract MONDO:0002118 DOID:0080205 DOID:18 urinary system disorder +MONDO:0019773 myelomeningocele MONDO:0002545 DOID:0060326 DOID:319 spinal cord disorder +MONDO:0019773 myelomeningocele MONDO:0008449 DOID:0060326 DOID:0080016 spina bifida +MONDO:0019796 acrocephalosyndactyly MONDO:0001411 DOID:12960 DOID:11971 synostosis +MONDO:0019799 hepatoerythropoietic porphyria MONDO:0002520 DOID:5230 DOID:3133 hepatic porphyria +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance MONDO:0019155 DOID:0112260 DOID:0112259 Leydig cell hypoplasia +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance MONDO:0019155 DOID:0112261 DOID:0112259 Leydig cell hypoplasia +MONDO:0019947 rippling muscle disease 2 MONDO:0003939 DOID:0060255 DOID:66 muscle tissue disorder +MONDO:0019948 reducing body myopathy MONDO:0005336 DOID:0080090 DOID:423 myopathy +MONDO:0019960 VIPoma MONDO:0019496 DOID:5574 DOID:169 neuroendocrine neoplasm +MONDO:0019962 thyroid lymphoma MONDO:0005062 DOID:10011 DOID:0060058 lymphoma +MONDO:0020068 postinfectious encephalitis MONDO:0019956 DOID:10993 DOID:9588 encephalitis +MONDO:0020119 X-linked syndromic intellectual disability MONDO:0000425 DOID:0060309 DOID:0050735 X-linked disease +MONDO:0020310 familial focal epilepsy with variable foci MONDO:0005384 DOID:0081420 DOID:2234 focal epilepsy +MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0018874 DOID:0081087 DOID:9119 acute myeloid leukemia +MONDO:0020322 acute biphenotypic leukemia MONDO:0010643 DOID:9953 DOID:12603 acute leukemia +MONDO:0020325 anaplastic large cell lymphoma MONDO:0018908 DOID:0050744 DOID:0060060 non-Hodgkin lymphoma +MONDO:0020334 mast cell leukemia MONDO:0002724 DOID:9254 DOID:3664 mast cell neoplasm +MONDO:0020340 bilateral perisylvian polymicrogyria MONDO:0000087 DOID:0080924 DOID:0080918 polymicrogyria +MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0018102 DOID:0060457 DOID:2566 corneal dystrophy +MONDO:0020380 autosomal dominant cerebellar ataxia MONDO:0000437 DOID:1441 DOID:0050753 cerebellar ataxia +MONDO:0020460 acquired von willebrand syndrome MONDO:0001531 DOID:0111146 DOID:1247 blood coagulation disease +MONDO:0020496 familial porencephaly MONDO:0005560 DOID:0112313 DOID:936 brain disorder +MONDO:0020499 Nipah virus disease MONDO:0005108 DOID:0050192 DOID:934 viral infectious disease +MONDO:0020500 Marburg hemorrhagic fever MONDO:0005108 DOID:4327 DOID:934 viral infectious disease +MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0005108 DOID:12287 DOID:934 viral infectious disease +MONDO:0020502 yellow fever MONDO:0005108 DOID:9682 DOID:934 viral infectious disease +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0005062 DOID:0080638 DOID:0060058 lymphoma +MONDO:0020513 spermatocytic seminoma MONDO:0005040 DOID:5834 DOID:2994 germ cell tumor +MONDO:0020513 spermatocytic seminoma MONDO:0005447 DOID:5834 DOID:2998 testicular cancer +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 MONDO:0002254 DOID:0060248 DOID:225 syndromic disease +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0019701 DOID:0080352 DOID:2581 chondrodysplasia punctata +MONDO:0020642 polycystic kidney disease MONDO:0002473 DOID:0080322 DOID:2975 cystic kidney disease +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 MONDO:0020066 DOID:0080736 DOID:13359 Ehlers-Danlos syndrome +MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 MONDO:0020066 DOID:0080738 DOID:13359 Ehlers-Danlos syndrome +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 MONDO:0020066 DOID:0080986 DOID:13359 Ehlers-Danlos syndrome +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive MONDO:0000359 DOID:0112365 DOID:0050568 spondylocostal dysostosis +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive MONDO:0006025 DOID:0112365 DOID:0050737 autosomal recessive disease +MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0015194 DOID:0060063 DOID:8955 sideroblastic anemia +MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 MONDO:0008171 DOID:0080652 DOID:585 nephrolithiasis +MONDO:0020723 vitamin D-dependent rickets, type 1A MONDO:0024299 DOID:0080886 DOID:0080883 vitamin D-dependent rickets +MONDO:0020724 cerebral cavernous malformation 1 MONDO:0000820 DOID:0080491 DOID:0060669 cerebral cavernous malformation +MONDO:0020727 combined oxidative phosphorylation deficiency 22 MONDO:0000732 DOID:0111498 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0020729 autosomal recessive agammaglobulinemia 1 MONDO:0015977 DOID:0081136 DOID:2583 agammaglobulinemia +MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0003608 DOID:0111434 DOID:5723 optic atrophy +MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B MONDO:0006025 DOID:0081322 DOID:0050737 autosomal recessive disease +MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B MONDO:0017415 DOID:0081322 DOID:0080110 multiple pterygium syndrome +MONDO:0020753 Orthocoronavirinae infectious disease MONDO:0005108 DOID:0080599 DOID:934 viral infectious disease +MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0015244 DOID:0070465 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 MONDO:0005181 DOID:0111524 DOID:12558 progressive external ophthalmoplegia +MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0003036 DOID:0081293 DOID:4531 mucoepidermoid carcinoma +MONDO:0021022 hereditary hyperekplexia MONDO:0005071 DOID:0060695 DOID:863 nervous system disorder +MONDO:0021063 malignant colon neoplasm MONDO:0003409 DOID:219 DOID:5353 colonic disorder +MONDO:0021097 intraductal breast papilloma MONDO:0002363 DOID:1626 DOID:2615 papilloma +MONDO:0021115 luminal B breast carcinoma MONDO:0004989 DOID:0080674 DOID:3459 breast carcinoma +MONDO:0021439 benign neoplasm of pituitary gland MONDO:0003381 DOID:60009 DOID:53 pituitary gland disorder +MONDO:0021443 benign neoplasm of lymph node MONDO:0004928 DOID:0080617 DOID:9942 lymph node disorder +MONDO:0021463 benign neoplasm of parathyroid gland MONDO:0001223 DOID:60008 DOID:11201 parathyroid gland disorder +MONDO:0021503 benign neoplasm of gallbladder MONDO:0005281 DOID:0080640 DOID:0060262 gallbladder disorder +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant MONDO:0000426 DOID:0070247 DOID:0050736 autosomal dominant disease +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant MONDO:0016830 DOID:0070247 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0022519 autoimmune myocarditis MONDO:0000603 DOID:0080767 DOID:0060051 autoimmune disorder of cardiovascular system +MONDO:0022687 cerebellar degeneration MONDO:0005560 DOID:1443 DOID:936 brain disorder +MONDO:0023419 hyperprolinemia MONDO:0004736 DOID:0080541 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0024240 eccrine carcinoma MONDO:0004970 DOID:4920 DOID:299 adenocarcinoma +MONDO:0024245 ductal eccrine adenocarcinoma MONDO:0002206 DOID:5570 DOID:2095 sweat gland cancer +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 MONDO:0018612 DOID:0070124 DOID:0050328 congenital hypothyroidism +MONDO:0024268 superficial mycosis MONDO:0002041 DOID:0050133 DOID:1564 fungal infectious disease +MONDO:0024331 colorectal carcinoma MONDO:0004993 DOID:0080199 DOID:305 carcinoma +MONDO:0024358 complex sleep apnea MONDO:0005296 DOID:0080302 DOID:0050847 sleep apnea syndrome +MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type MONDO:0003406 DOID:0111141 DOID:535 sleep-wake disorder +MONDO:0024455 autosomal dominant Robinow syndrome 1 MONDO:0000426 DOID:0060766 DOID:0050736 autosomal dominant disease +MONDO:0024455 autosomal dominant Robinow syndrome 1 MONDO:0019978 DOID:0060766 DOID:0060254 Robinow syndrome +MONDO:0024456 anterior segment dysgenesis 3 MONDO:0019503 DOID:0080608 DOID:0060648 anterior segment dysgenesis +MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0018307 DOID:0110735 DOID:0110734 neurodegeneration with brain iron accumulation +MONDO:0024472 boutonneuse fever MONDO:0001195 DOID:14095 DOID:11104 spotted fever +MONDO:0024473 Astrakhan spotted fever MONDO:0001195 DOID:0050041 DOID:11104 spotted fever +MONDO:0024507 aniridia 1 MONDO:0019172 DOID:0070532 DOID:12271 aniridia +MONDO:0024522 amyloidosis, primary localized cutaneous, 1 MONDO:0015301 DOID:0080930 DOID:0050639 primary cutaneous amyloidosis +MONDO:0024525 Fanconi renotubular syndrome 1 MONDO:0001083 DOID:0080757 DOID:1062 Fanconi renotubular syndrome +MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0000426 DOID:0111521 DOID:0050736 autosomal dominant disease +MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0005181 DOID:0111521 DOID:12558 progressive external ophthalmoplegia +MONDO:0024548 peeling skin syndrome 1 MONDO:0019347 DOID:0070520 DOID:0060283 peeling skin syndrome +MONDO:0024569 optic atrophy 8 MONDO:0000426 DOID:0111439 DOID:0050736 autosomal dominant disease +MONDO:0024569 optic atrophy 8 MONDO:0003608 DOID:0111439 DOID:5723 optic atrophy +MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0006816 DOID:9898 DOID:381 arthropathy +MONDO:0025193 oculopharyngodistal myopathy MONDO:0005336 DOID:0081296 DOID:423 myopathy +MONDO:0025598 pneumonia caused by chlamydia MONDO:0004652 DOID:0040083 DOID:874 bacterial pneumonia +MONDO:0025691 dystonia 30 MONDO:0003441 DOID:0060937 DOID:543 dystonic disorder +MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 MONDO:0018612 DOID:0111837 DOID:0050328 congenital hypothyroidism +MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 MONDO:0018612 DOID:0111835 DOID:0050328 congenital hypothyroidism +MONDO:0026777 VEXAS syndrome MONDO:0002254 DOID:0080828 DOID:225 syndromic disease +MONDO:0027694 amyotrophic lateral sclerosis type 23 MONDO:0004976 DOID:0080225 DOID:332 amyotrophic lateral sclerosis +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0015131 DOID:0111984 DOID:628 combined immunodeficiency +MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:0006025 DOID:0112382 DOID:0050737 autosomal recessive disease +MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:0018276 DOID:0112382 DOID:0112374 muscular dystrophy-dystroglycanopathy +MONDO:0030056 Fanconi renotubular syndrome 5 MONDO:0001083 DOID:0080761 DOID:1062 Fanconi renotubular syndrome +MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 MONDO:0016587 DOID:0080959 DOID:0050431 arrhythmogenic right ventricular cardiomyopathy +MONDO:0030073 Mitchell syndrome MONDO:0019053 DOID:0070516 DOID:906 peroxisomal disease +MONDO:0030300 cardiomyopathy, dilated, 2D MONDO:0005021 DOID:0081160 DOID:12930 dilated cardiomyopathy +MONDO:0030366 cardiomyopathy, dilated, 2E MONDO:0005021 DOID:0081161 DOID:12930 dilated cardiomyopathy +MONDO:0030455 dystonia 31 MONDO:0003441 DOID:0060938 DOID:543 dystonic disorder +MONDO:0030482 spastic paraplegia 84, autosomal recessive MONDO:0019064 DOID:0112347 DOID:2476 hereditary spastic paraplegia +MONDO:0030486 dystonia 32 MONDO:0003441 DOID:0060939 DOID:543 dystonic disorder +MONDO:0030512 spastic paraplegia 85, autosomal recessive MONDO:0019064 DOID:0112345 DOID:2476 hereditary spastic paraplegia +MONDO:0030513 dystonia 33 MONDO:0003441 DOID:0060940 DOID:543 dystonic disorder +MONDO:0030538 dystonia 34, myoclonic MONDO:0003441 DOID:0060957 DOID:543 dystonic disorder +MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0002367 DOID:7571 DOID:263 kidney cancer +MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0019064 DOID:0112342 DOID:2476 hereditary spastic paraplegia +MONDO:0030680 cardiomyopathy, dilated, 2F MONDO:0005021 DOID:0081162 DOID:12930 dilated cardiomyopathy +MONDO:0030701 autoimmune cardiomyopathy MONDO:0005267 DOID:0040095 DOID:114 heart disorder +MONDO:0030860 neuronopathy, distal hereditary motor, type 5C MONDO:0015362 DOID:0081401 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0030870 premature ovarian failure 17 MONDO:0005387 DOID:0080874 DOID:5426 primary ovarian failure +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0004976 DOID:0081380 DOID:332 amyotrophic lateral sclerosis +MONDO:0030887 cardiomyopathy, dilated, 2G MONDO:0005021 DOID:0081163 DOID:12930 dilated cardiomyopathy +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 MONDO:0006025 DOID:0060919 DOID:0050737 autosomal recessive disease +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 MONDO:0006025 DOID:0060915 DOID:0050737 autosomal recessive disease +MONDO:0030939 premature ovarian failure 18 MONDO:0005387 DOID:0112269 DOID:5426 primary ovarian failure +MONDO:0030958 dystonia 35, childhood-onset MONDO:0003441 DOID:0060955 DOID:543 dystonic disorder +MONDO:0030985 premature ovarian failure 19 MONDO:0005387 DOID:0112278 DOID:5426 primary ovarian failure +MONDO:0031012 autoimmune uveitis MONDO:0002661 DOID:0040088 DOID:3480 uveal disorder +MONDO:0031014 autoimmune gastritis MONDO:0004298 DOID:0040090 DOID:76 stomach disorder +MONDO:0031043 lymphatic malformation 12 MONDO:0005833 DOID:0081030 DOID:75 lymphatic system disorder +MONDO:0031332 Glanzmann thrombasthenia 1 MONDO:0000009 DOID:2219 DOID:2218 inherited bleeding disorder, platelet-type +MONDO:0031421 Olmsted syndrome MONDO:0006566 DOID:0112011 DOID:161 keratosis +MONDO:0032592 cardiomyopathy, dilated, 2c MONDO:0005021 DOID:0081159 DOID:12930 dilated cardiomyopathy +MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:0018838 DOID:0112228 DOID:0050453 lissencephaly spectrum disorders +MONDO:0032756 long qt syndrome 8 MONDO:0002442 DOID:0110649 DOID:2843 long QT syndrome +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0018612 DOID:0111836 DOID:0050328 congenital hypothyroidism +MONDO:0032881 premature ovarian failure 16 MONDO:0005387 DOID:0080873 DOID:5426 primary ovarian failure +MONDO:0032915 long QT syndrome 16 MONDO:0002442 DOID:0070533 DOID:2843 long QT syndrome +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0000762 DOID:0070470 DOID:0060429 syndrome caused by partial chromosomal duplication +MONDO:0033005 Galloway-Mowat syndrome 1 MONDO:0006025 DOID:0060364 DOID:0050737 autosomal recessive disease +MONDO:0033007 Galloway-Mowat syndrome 3 MONDO:0006025 DOID:0080245 DOID:0050737 autosomal recessive disease +MONDO:0033008 Galloway-Mowat syndrome 4 MONDO:0006025 DOID:0080246 DOID:0050737 autosomal recessive disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0006025 DOID:0080252 DOID:0050737 autosomal recessive disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0017845 DOID:0080252 DOID:0050952 spastic ataxia +MONDO:0033046 Meier-Gorlin syndrome 8 MONDO:0006025 DOID:0080255 DOID:0050737 autosomal recessive disease +MONDO:0033480 spinocerebellar ataxia 45 MONDO:0020380 DOID:0080287 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0033481 spinocerebellar ataxia 46 MONDO:0020380 DOID:0080288 DOID:1441 autosomal dominant cerebellar ataxia +MONDO:0033549 optic atrophy 12 MONDO:0003608 DOID:0080840 DOID:5723 optic atrophy +MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:0015131 DOID:0112061 DOID:0111962 combined immunodeficiency +MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:0015131 DOID:0112062 DOID:0111962 combined immunodeficiency +MONDO:0042487 uterine cervix carcinoma in situ MONDO:0002256 DOID:8991 DOID:2253 cervix disorder +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant MONDO:0000426 DOID:0080625 DOID:0050736 autosomal dominant disease +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant MONDO:0018542 DOID:0080625 DOID:0050590 severe congenital neutropenia +MONDO:0043275 TORCH syndrome MONDO:0002254 DOID:0080835 DOID:225 syndromic disease +MONDO:0044210 thalassemia minor MONDO:0019402 DOID:0080774 DOID:12241 beta thalassemia +MONDO:0044317 premature ovarian failure 13 MONDO:0005387 DOID:0080870 DOID:5426 primary ovarian failure +MONDO:0044329 osteogenesis imperfecta, type 18 MONDO:0019019 DOID:0111848 DOID:12347 osteogenesis imperfecta +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0019064 DOID:0112349 DOID:2476 hereditary spastic paraplegia +MONDO:0044762 diarrheal disease secondary to increased bowel motility MONDO:0001673 DOID:0050131 DOID:13250 diarrheal disease +MONDO:0044776 premature ovarian failure 10 MONDO:0005387 DOID:0080867 DOID:5426 primary ovarian failure +MONDO:0044777 premature ovarian failure 14 MONDO:0005387 DOID:0080871 DOID:5426 primary ovarian failure +MONDO:0044789 digital papillary eccrine carcinoma MONDO:0004970 DOID:5590 DOID:299 adenocarcinoma +MONDO:0044789 digital papillary eccrine carcinoma MONDO:0005524 DOID:5590 DOID:5667 sweat gland carcinoma +MONDO:0044792 large congenital melanocytic nevus MONDO:0005093 DOID:0111359 DOID:37 skin disorder +MONDO:0049223 osteogenesis imperfecta, type 19 MONDO:0019019 DOID:0111847 DOID:12347 osteogenesis imperfecta +MONDO:0054549 peroxisome biogenesis disorder 10B MONDO:0006025 DOID:0081440 DOID:0050737 autosomal recessive disease +MONDO:0054549 peroxisome biogenesis disorder 10B MONDO:0019234 DOID:0081440 DOID:0080377 peroxisome biogenesis disorder +MONDO:0054593 microcephaly 18, primary, autosomal dominant MONDO:0000426 DOID:0070295 DOID:0050736 autosomal dominant disease +MONDO:0054593 microcephaly 18, primary, autosomal dominant MONDO:0016056 DOID:0070295 DOID:0070297 isolated congenital microcephaly +MONDO:0054601 pituitary adenoma 5, multiple types MONDO:0006373 DOID:0112008 DOID:3829 pituitary gland adenoma +MONDO:0054665 pituitary adenoma 3, multiple types MONDO:0006373 DOID:0112010 DOID:3829 pituitary gland adenoma +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 MONDO:0006025 DOID:0060916 DOID:0050737 autosomal recessive disease +MONDO:0054862 premature ovarian failure 15 MONDO:0005387 DOID:0080872 DOID:5426 primary ovarian failure +MONDO:0056798 disorder of appendix MONDO:0004335 DOID:60000 DOID:77 digestive system disorder +MONDO:0100017 pityriasis rubra pilaris MONDO:0005093 DOID:9212 DOID:37 skin disorder +MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia MONDO:0004736 DOID:0060950 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0005559 DOID:0070352 DOID:1289 neurodegenerative disease +MONDO:0100130 adult acute respiratory distress syndrome MONDO:0021113 DOID:11394 DOID:11162 respiratory failure +MONDO:0100133 mitochondrial complex I deficiency MONDO:0004069 DOID:0060536 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0006025 DOID:0112225 DOID:0050737 autosomal recessive disease +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0002254 DOID:0080836 DOID:225 syndromic disease +MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0002254 DOID:0111821 DOID:225 syndromic disease +MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MONDO:0002254 DOID:0080837 DOID:225 syndromic disease +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0002123 DOID:0111063 DOID:182 calcinosis +MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0004095 DOID:0060901 DOID:707 B-cell neoplasm +MONDO:0100288 enhanced S-cone syndrome MONDO:0005283 DOID:0090059 DOID:5679 retinal disorder +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0004069 DOID:0060537 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0100316 long QT syndrome 1 MONDO:0002442 DOID:0110644 DOID:2843 long QT syndrome +MONDO:0100339 Friedreich ataxia MONDO:0015244 DOID:12705 DOID:0050950 autosomal recessive cerebellar ataxia +MONDO:0100342 malignant glioma MONDO:0004992 DOID:3070 DOID:0050687 cancer +MONDO:0100349 COACH syndrome MONDO:0006025 DOID:0111589 DOID:0050737 autosomal recessive disease +MONDO:0100352 episodic kinesigenic dyskinesia 1 MONDO:0003441 DOID:0090053 DOID:543 dystonic disorder +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0002254 DOID:0060610 DOID:225 syndromic disease +MONDO:0100435 Schwartz-Jampel syndrome type 1 MONDO:0002254 DOID:0090005 DOID:225 syndromic disease +MONDO:0100435 Schwartz-Jampel syndrome type 1 MONDO:0006025 DOID:0090005 DOID:0050737 autosomal recessive disease +MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0004860 DOID:9719 DOID:9720 vitreous disorder +MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0005283 DOID:9719 DOID:5679 retinal disorder +MONDO:0100514 familial ovarian carcinoma MONDO:0002229 DOID:6901 DOID:2152 ovarian epithelial tumor +MONDO:0100522 hypotrichosis 4 MONDO:0003037 DOID:0110701 DOID:4535 hypotrichosis +MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 DOID:0070246 DOID:11726 Emery-Dreifuss muscular dystrophy +MONDO:0700081 newborn respiratory distress syndrome MONDO:0021113 DOID:12716 DOID:11162 respiratory failure +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0003441 DOID:0090049 DOID:543 dystonic disorder +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy +MONDO:0800029 interstitial lung disease 2 MONDO:0015925 DOID:0060971 DOID:3082 interstitial lung disease +MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0002049 DOID:0090102 DOID:1588 thrombocytopenia +MONDO:0800368 cardiomyopathy, dilated, 1MM MONDO:0005021 DOID:0081158 DOID:12930 dilated cardiomyopathy +MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0000426 DOID:0050676 DOID:0050736 autosomal dominant disease +MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0002049 DOID:0090118 DOID:1588 thrombocytopenia +MONDO:0850154 tongue carcinoma MONDO:0004993 DOID:0080641 DOID:305 carcinoma +MONDO:0850345 lung pleomorphic carcinoma MONDO:0008903 DOID:0080899 DOID:1324 lung cancer +MONDO:0850347 bladder sarcomatoid transitional cell carcinoma MONDO:0001187 DOID:0080901 DOID:11054 urinary bladder cancer +MONDO:0850415 rhabdomyolysis-myalgia syndrome MONDO:0005336 DOID:0080992 DOID:423 myopathy +MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype MONDO:0100342 DOID:0081277 DOID:3070 malignant glioma +MONDO:0858950 traumatic brain injury MONDO:0005560 DOID:0081292 DOID:936 brain disorder +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0005093 DOID:0070510 DOID:37 skin disorder +MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0003441 DOID:0060944 DOID:543 dystonic disorder +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile MONDO:0004976 DOID:0081381 DOID:332 amyotrophic lateral sclerosis +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 MONDO:0000426 DOID:0081371 DOID:0050736 autosomal dominant disease +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 MONDO:0000426 DOID:0081372 DOID:0050736 autosomal dominant disease +MONDO:0957385 dystonia 37, early-onset, with striatal lesions MONDO:0003441 DOID:0060956 DOID:543 dystonic disorder +MONDO:0957538 amyotrophic lateral sclerosis 28 MONDO:0004976 DOID:0081382 DOID:332 amyotrophic lateral sclerosis +MONDO:0957539 dystonia 22, juvenile-onset MONDO:0003441 DOID:0060966 DOID:543 dystonic disorder +MONDO:0957542 dystonia 22, adult-onset MONDO:0003441 DOID:0060967 DOID:543 dystonic disorder +MONDO:0968949 palmoplantar keratoderma, epidermolytic MONDO:0006590 DOID:0080223 DOID:3390 palmoplantar keratosis +MONDO:8000008 Martsolf syndrome 1 MONDO:0002254 DOID:0111586 DOID:225 syndromic disease +MONDO:0000245 tinea imbricata MONDO:0004678 ICD10CM:B35.5 ICD10CM:B35 dermatophytosis +MONDO:0000367 taeniasis MONDO:0004664 ICD10CM:B68 ICD10CM:B65-B83 helminthiasis +MONDO:0000916 intestinal infectious disease MONDO:0005550 ICD10CM:A00-A09 ICD10CM:A00-B99 infectious disease +MONDO:0001176 lens disorder MONDO:0002022 ICD10CM:H25-H28 ICD10CM:H00-H59 disorder of orbital region +MONDO:0001195 spotted fever MONDO:0006956 ICD10CM:A77 ICD10CM:A75-A79 Rickettsiosis +MONDO:0001367 chronic congestive splenomegaly MONDO:0002332 ICD10CM:D73.2 ICD10CM:D73 splenic disorder +MONDO:0001416 female reproductive organ cancer MONDO:0005070 ICD10CM:C51-C58 ICD10CM:C00-D49 neoplasm +MONDO:0001444 Chagas disease MONDO:0002428 ICD10CM:B57 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0001633 central retinal artery occlusion MONDO:0002089 ICD10CM:H34.1 ICD10CM:H34 retinal vascular occlusion +MONDO:0001797 chancroid MONDO:0021681 ICD10CM:A57 ICD10CM:A50-A64 sexually transmitted disease +MONDO:0001815 extrapyramidal and movement disease MONDO:0005071 ICD10CM:G20-G26 ICD10CM:G00-G99 nervous system disorder +MONDO:0001876 renal artery atheroma MONDO:0005311 ICD10CM:I70.1 ICD10CM:I70 atherosclerosis +MONDO:0001943 Plasmodium malariae malaria MONDO:0002428 ICD10CM:B52 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0002026 candidiasis MONDO:0002041 ICD10CM:B37 ICD10CM:B35-B49 fungal infectious disease +MONDO:0002067 female breast upper-inner quadrant cancer MONDO:0007254 ICD10CM:C50.2 ICD10CM:C50 breast cancer +MONDO:0002068 female breast lower-inner quadrant cancer MONDO:0007254 ICD10CM:C50.3 ICD10CM:C50 breast cancer +MONDO:0002069 female breast axillary tail cancer MONDO:0007254 ICD10CM:C50.6 ICD10CM:C50 breast cancer +MONDO:0002425 rectosigmoid junction cancer MONDO:0002516 ICD10CM:C19 ICD10CM:C15-C26 digestive system cancer +MONDO:0002428 protozoa infectious disease MONDO:0005550 ICD10CM:B50-B64 ICD10CM:A00-B99 infectious disease +MONDO:0002516 digestive system cancer MONDO:0005070 ICD10CM:C15-C26 ICD10CM:C00-D49 neoplasm +MONDO:0002875 parasitic ectoparasitic infectious disease MONDO:0005550 ICD10CM:B85-B89 ICD10CM:A00-B99 infectious disease +MONDO:0002898 skin cancer MONDO:0005070 ICD10CM:C43-C44 ICD10CM:C00-D49 neoplasm +MONDO:0003664 hemolytic anemia MONDO:0005570 ICD10CM:D55-D59 ICD10CM:D50-D89 hematologic disorder +MONDO:0004473 epiglottis cancer MONDO:0004608 ICD10CM:C10.1 ICD10CM:C10 oropharynx cancer +MONDO:0004525 scabies MONDO:0002875 ICD10CM:B86 ICD10CM:B85-B89 parasitic ectoparasitic infectious disease +MONDO:0004664 helminthiasis MONDO:0005550 ICD10CM:B65-B83 ICD10CM:A00-B99 infectious disease +MONDO:0004678 dermatophytosis MONDO:0002041 ICD10CM:B35 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005021 dilated cardiomyopathy MONDO:0004994 ICD10CM:I42.0 ICD10CM:I42 cardiomyopathy +MONDO:0005041 glaucoma MONDO:0002022 ICD10CM:H40-H42 ICD10CM:H00-H59 disorder of orbital region +MONDO:0005044 hypertensive disorder MONDO:0005385 ICD10CM:I10-I16 ICD10CM:I00-I99 vascular disorder +MONDO:0005109 HIV infectious disease MONDO:0005550 ICD10CM:B20-B20 ICD10CM:A00-B99 infectious disease +MONDO:0005154 liver disorder MONDO:0004335 ICD10CM:K70-K77 ICD10CM:K00-K95 digestive system disorder +MONDO:0005298 osteoporosis MONDO:0005381 ICD10CM:M81 ICD10CM:M80-M85 bone disorder +MONDO:0005311 atherosclerosis MONDO:0005385 ICD10CM:I70 ICD10CM:I70-I79 vascular disorder +MONDO:0005340 alopecia areata MONDO:0024481 ICD10CM:L63 ICD10CM:L60-L75 skin appendage disorder +MONDO:0005519 renal pelvis carcinoma MONDO:0006295 ICD10CM:C65 ICD10CM:C64-C68 malignant urinary system neoplasm +MONDO:0005654 ascariasis MONDO:0004664 ICD10CM:B77 ICD10CM:B65-B83 helminthiasis +MONDO:0005657 aspergillosis MONDO:0002041 ICD10CM:B44 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005672 blastomycosis MONDO:0002041 ICD10CM:B40 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005706 coccidioidomycosis MONDO:0002041 ICD10CM:B38 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005714 congenital syphilis MONDO:0021681 ICD10CM:A50 ICD10CM:A50-A64 sexually transmitted disease +MONDO:0005724 cryptococcosis MONDO:0002041 ICD10CM:B45 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005738 echinococcosis MONDO:0004664 ICD10CM:B67 ICD10CM:B65-B83 helminthiasis +MONDO:0005746 enterobiasis MONDO:0004664 ICD10CM:B80 ICD10CM:B65-B83 helminthiasis +MONDO:0005777 granuloma inguinale MONDO:0021681 ICD10CM:A58 ICD10CM:A50-A64 sexually transmitted disease +MONDO:0005844 chalazion MONDO:0003382 ICD10CM:H00.1 ICD10CM:H00 eyelid disorder +MONDO:0005848 miliary tuberculosis MONDO:0018076 ICD10CM:A19 ICD10CM:A15-A19 tuberculosis +MONDO:0005894 paracoccidioidomycosis MONDO:0002041 ICD10CM:B41 ICD10CM:B35-B49 fungal infectious disease +MONDO:0005921 Plasmodium vivax malaria MONDO:0002428 ICD10CM:B51 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0005989 toxoplasmosis MONDO:0002428 ICD10CM:B58 ICD10CM:B50-B64 protozoa infectious disease +MONDO:0005996 trichuriasis MONDO:0004664 ICD10CM:B79 ICD10CM:B65-B83 helminthiasis +MONDO:0006004 vasomotor rhinitis MONDO:0003014 ICD10CM:J30.0 ICD10CM:J30 rhinitis +MONDO:0006011 viral hepatitis MONDO:0005550 ICD10CM:B15-B19 ICD10CM:A00-B99 infectious disease +MONDO:0006014 vulvovaginal candidiasis MONDO:0002026 ICD10CM:B37.3 ICD10CM:B37 candidiasis +MONDO:0006170 conjunctival disorder MONDO:0002022 ICD10CM:H10-H11 ICD10CM:H00-H59 disorder of orbital region +MONDO:0006295 malignant urinary system neoplasm MONDO:0005070 ICD10CM:C64-C68 ICD10CM:C00-D49 neoplasm +MONDO:0006496 palsy MONDO:0005071 ICD10CM:G80-G83 ICD10CM:G00-G99 nervous system disorder +MONDO:0006534 cholinergic urticaria MONDO:0005492 ICD10CM:L50.5 ICD10CM:L50 urticaria +MONDO:0006618 vibratory urticaria MONDO:0005492 ICD10CM:L50.4 ICD10CM:L50 urticaria +MONDO:0006643 alcoholic cardiomyopathy MONDO:0004994 ICD10CM:I42.6 ICD10CM:I42 cardiomyopathy +MONDO:0006826 kwashiorkor MONDO:0006873 ICD10CM:E40 ICD10CM:E40-E46 nutritional deficiency disease +MONDO:0006848 marasmus MONDO:0006873 ICD10CM:E41 ICD10CM:E40-E46 nutritional deficiency disease +MONDO:0006946 renal osteodystrophy MONDO:0001343 ICD10CM:N25.0 ICD10CM:N25 impaired renal function disease +MONDO:0006947 renovascular hypertension MONDO:0005044 ICD10CM:I15.0 ICD10CM:I15 hypertensive disorder +MONDO:0006956 Rickettsiosis MONDO:0005550 ICD10CM:A75-A79 ICD10CM:A00-B99 infectious disease +MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0001422 ICD10CM:E26.02 ICD10CM:E26.0 primary aldosteronism +MONDO:0007448 familial dermatographia MONDO:0005492 ICD10CM:L50.3 ICD10CM:L50 urticaria +MONDO:0007810 autosomal dominant ichthyosis vulgaris MONDO:0015947 ICD10CM:Q80.0 ICD10CM:Q80 inherited ichthyosis +MONDO:0008575 nicotine dependence MONDO:0002494 ICD10CM:F17 ICD10CM:F10-F19 substance-related disorder +MONDO:0008890 progressive bulbar palsy MONDO:0020128 ICD10CM:G12.22 ICD10CM:G12.2 motor neuron disorder +MONDO:0011057 cerebrovascular disorder MONDO:0005385 ICD10CM:I60-I69 ICD10CM:I00-I99 vascular disorder +MONDO:0011728 benign essential blepharospasm MONDO:0003441 ICD10CM:G24.5 ICD10CM:G24 dystonic disorder +MONDO:0015484 cysticercosis MONDO:0004664 ICD10CM:B69 ICD10CM:B65-B83 helminthiasis +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0004670 ICD10CM:L93.1 ICD10CM:L93 lupus erythematosus +MONDO:0015925 interstitial lung disease MONDO:0005087 ICD10CM:J80-J84 ICD10CM:J00-J99 respiratory system disorder +MONDO:0016158 narcolepsy-cataplexy syndrome MONDO:0003406 ICD10CM:G47.4 ICD10CM:G47 sleep-wake disorder +MONDO:0016472 dracunculiasis MONDO:0004664 ICD10CM:B72 ICD10CM:B65-B83 helminthiasis +MONDO:0017137 onchocerciasis MONDO:0004664 ICD10CM:B73 ICD10CM:B65-B83 helminthiasis +MONDO:0017610 epidermolysis bullosa simplex MONDO:0006541 ICD10CM:Q81.0 ICD10CM:Q81 epidermolysis bullosa +MONDO:0018076 tuberculosis MONDO:0005550 ICD10CM:A15-A19 ICD10CM:A00-B99 infectious disease +MONDO:0018312 histoplasmosis MONDO:0002041 ICD10CM:B39 ICD10CM:B35-B49 fungal infectious disease +MONDO:0019136 Zygomycosis MONDO:0002041 ICD10CM:B46 ICD10CM:B35-B49 fungal infectious disease +MONDO:0019322 pemphigus vegetans MONDO:0006594 ICD10CM:L10.1 ICD10CM:L10 pemphigus +MONDO:0019345 shigellosis MONDO:0000916 ICD10CM:A03 ICD10CM:A00-A09 intestinal infectious disease +MONDO:0019356 urogenital tract malformation MONDO:0021147 ICD10CM:Q60-Q64 ICD10CM:Q00-Q99 disorder of development or morphogenesis +MONDO:0019444 trichinellosis MONDO:0004664 ICD10CM:B75 ICD10CM:B65-B83 helminthiasis +MONDO:0019558 discoid lupus erythematosus MONDO:0004670 ICD10CM:L93.0 ICD10CM:L93 lupus erythematosus +MONDO:0019992 pseudohypoparathyroidism MONDO:0001220 ICD10CM:E20.1 ICD10CM:E20 hypoparathyroidism +MONDO:0020022 central nervous system malformation MONDO:0021147 ICD10CM:Q00-Q07 ICD10CM:Q00-Q99 disorder of development or morphogenesis +MONDO:0020800 demyelinating disease of central nervous system MONDO:0005071 ICD10CM:G35-G37 ICD10CM:G00-G99 nervous system disorder +MONDO:0021527 benign neoplasm of meninges MONDO:0005165 ICD10CM:D32 ICD10CM:D10-D36 benign neoplasm +MONDO:0021697 chlamydia infectious disease MONDO:0005550 ICD10CM:A70-A74 ICD10CM:A00-B99 infectious disease +MONDO:0024356 primary central sleep apnea syndrome MONDO:0005296 ICD10CM:G47.31 ICD10CM:G47.3 sleep apnea syndrome +MONDO:0024644 myocardial ischemia MONDO:0005385 ICD10CM:I20-I25 ICD10CM:I00-I99 vascular disorder +MONDO:0044210 thalassemia minor MONDO:0000984 ICD10CM:D56.3 ICD10CM:D56 thalassemia +MONDO:0056798 disorder of appendix MONDO:0004335 ICD10CM:K35-K38 ICD10CM:K00-K95 digestive system disorder +MONDO:0100491 generalized pustular psoriasis MONDO:0005083 ICD10CM:L40.1 ICD10CM:L40 psoriasis +MONDO:0000240 invasive aspergillosis MONDO:0005657 icd11.foundation:1314810340 icd11.foundation:1913468488 aspergillosis +MONDO:0000450 secondary progressive multiple sclerosis MONDO:0005301 icd11.foundation:1045965709 icd11.foundation:1298865187 multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis MONDO:0005301 icd11.foundation:1020720762 icd11.foundation:1298865187 multiple sclerosis +MONDO:0001076 glucose intolerance MONDO:0017706 icd11.foundation:1392580302 icd11.foundation:1315315105 disorder of carbohydrate transmembrane transport and absorption +MONDO:0001217 pseudomembranous conjunctivitis MONDO:0003799 icd11.foundation:1606516539 icd11.foundation:831696556 conjunctivitis +MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0020121 icd11.foundation:621965073 icd11.foundation:1464662404 muscular dystrophy +MONDO:0001914 scleromalacia perforans MONDO:0001718 icd11.foundation:740830358 icd11.foundation:2097802831 scleritis +MONDO:0001936 brawny scleritis MONDO:0001718 icd11.foundation:1606860546 icd11.foundation:2097802831 scleritis +MONDO:0002133 chronic rheumatic pericarditis MONDO:0005904 icd11.foundation:1473004877 icd11.foundation:1296696944 pericarditis +MONDO:0002697 ovarian gonadoblastoma MONDO:0008170 icd11.foundation:1564602847 icd11.foundation:685124533 ovarian cancer +MONDO:0003481 dysgerminoma of ovary MONDO:0008170 icd11.foundation:208782658 icd11.foundation:685124533 ovarian cancer +MONDO:0005021 dilated cardiomyopathy MONDO:0004994 icd11.foundation:1916294688 icd11.foundation:282225286 cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy MONDO:0004994 icd11.foundation:1830681485 icd11.foundation:282225286 cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy MONDO:0004994 icd11.foundation:316495940 icd11.foundation:282225286 cardiomyopathy +MONDO:0005680 Brill-Zinsser disease MONDO:0001246 icd11.foundation:1961511435 icd11.foundation:292650041 typhus +MONDO:0005696 central nervous system tuberculosis MONDO:0018076 icd11.foundation:729372485 icd11.foundation:2072728114 tuberculosis +MONDO:0005848 miliary tuberculosis MONDO:0018076 icd11.foundation:861638547 icd11.foundation:2072728114 tuberculosis +MONDO:0006976 somatostatinoma MONDO:0005815 icd11.foundation:219879696 icd11.foundation:1421495979 pancreatic neuroendocrine neoplasm +MONDO:0006982 subacute thyroiditis MONDO:0004126 icd11.foundation:1320394379 icd11.foundation:587793334 thyroiditis +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:0019701 icd11.foundation:1513713461 icd11.foundation:1923035846 chondrodysplasia punctata +MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0015079 icd11.foundation:1638765741 icd11.foundation:1316827435 multiple polyglandular tumor +MONDO:0007745 Gilbert syndrome MONDO:0017755 icd11.foundation:1947520963 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0019287 icd11.foundation:315453775 icd11.foundation:1156567558 ectodermal dysplasia syndrome +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0019695 icd11.foundation:315453775 icd11.foundation:177141175 acromelic dysplasia +MONDO:0007988 autosomal dominant primary microcephaly MONDO:0001149 icd11.foundation:774437947 icd11.foundation:179350437 microcephaly +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 icd11.foundation:1897905410 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 icd11.foundation:2024049157 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 icd11.foundation:829297901 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0008223 hypokalemic periodic paralysis MONDO:0016122 icd11.foundation:1494773635 icd11.foundation:577112387 periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis MONDO:0016122 icd11.foundation:1308452752 icd11.foundation:577112387 periodic paralysis +MONDO:0008272 polysyndactyly 4 MONDO:0019530 icd11.foundation:973656080 icd11.foundation:1736296640 non-syndromic syndactyly +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0017307 icd11.foundation:1168847652 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0018910 icd11.foundation:1168847652 icd11.foundation:1189424097 oculocutaneous albinism +MONDO:0008855 MHC class II deficiency MONDO:0015131 icd11.foundation:2021339495 icd11.foundation:1616506198 combined immunodeficiency +MONDO:0008890 progressive bulbar palsy MONDO:0020128 icd11.foundation:1143049440 icd11.foundation:661720689 motor neuron disorder +MONDO:0008973 chondrodysplasia punctata, Toriello type MONDO:0019701 icd11.foundation:1167798993 icd11.foundation:1923035846 chondrodysplasia punctata +MONDO:0009044 Crigler-Najjar syndrome MONDO:0017755 icd11.foundation:291439191 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0009066 juvenile nephropathic cystinosis MONDO:0016239 icd11.foundation:422905632 icd11.foundation:733715856 cystinosis +MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO:0019241 icd11.foundation:2074850874 icd11.foundation:34853044 inborn disorder of the gamma-glutamyl cycle +MONDO:0009379 Rotor syndrome MONDO:0017755 icd11.foundation:1965776012 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0009380 Dubin-Johnson syndrome MONDO:0017755 icd11.foundation:1691610999 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0010837 icd11.foundation:1929875111 icd11.foundation:817194045 primary hyperparathyroidism +MONDO:0009519 letterer-Siwe disease MONDO:0018310 icd11.foundation:1827474596 icd11.foundation:216625985 Langerhans cell histiocytosis +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:0019694 icd11.foundation:975738106 icd11.foundation:329165933 spondylodysplastic dysplasia +MONDO:0009756 Niemann-Pick disease type A MONDO:0001982 icd11.foundation:530611243 icd11.foundation:398872780 Niemann-Pick disease +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0019287 icd11.foundation:1256237872 icd11.foundation:1156567558 ectodermal dysplasia syndrome +MONDO:0009785 opsismodysplasia MONDO:0019694 icd11.foundation:2147268863 icd11.foundation:329165933 spondylodysplastic dysplasia +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 icd11.foundation:629873920 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0009823 primary hyperoxaluria type 1 MONDO:0017703 icd11.foundation:692812009 icd11.foundation:1800430868 disorder of glyoxylate metabolism +MONDO:0009823 primary hyperoxaluria type 1 MONDO:0019053 icd11.foundation:692812009 icd11.foundation:782299726 peroxisomal disease +MONDO:0009837 choroid plexus papilloma MONDO:0016717 icd11.foundation:1696749652 icd11.foundation:1959912502 choroid plexus neoplasm +MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0006502 icd11.foundation:343716587 icd11.foundation:1189702844 acute respiratory distress syndrome +MONDO:0010070 brachyolmia type 1, Hobaek type MONDO:0015262 icd11.foundation:1213374086 icd11.foundation:1255949169 brachyolmia +MONDO:0010074 brachyolmia type 1, toledo type MONDO:0015262 icd11.foundation:637954533 icd11.foundation:1255949169 brachyolmia +MONDO:0010160 tyrosinemia type II MONDO:0017307 icd11.foundation:1900229795 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0010161 tyrosinemia type I MONDO:0017307 icd11.foundation:2029519782 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0020121 icd11.foundation:420677690 icd11.foundation:1464662404 muscular dystrophy +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0003608 icd11.foundation:1018428959 icd11.foundation:568505454 optic atrophy +MONDO:0011224 monomelic amyotrophy MONDO:0020128 icd11.foundation:2090347823 icd11.foundation:661720689 motor neuron disorder +MONDO:0011698 glycine N-methyltransferase deficiency MONDO:0019222 icd11.foundation:16192453 icd11.foundation:67872354 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0011731 glucose-galactose malabsorption MONDO:0017706 icd11.foundation:2108415931 icd11.foundation:1315315105 disorder of carbohydrate transmembrane transport and absorption +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0017307 icd11.foundation:1233842528 icd11.foundation:1842978338 disorder of tyrosine metabolism +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018910 icd11.foundation:1233842528 icd11.foundation:1189424097 oculocutaneous albinism +MONDO:0011870 annular epidermolytic ichthyosis MONDO:0017266 icd11.foundation:280058464 icd11.foundation:992865924 keratinopathic ichthyosis +MONDO:0011871 Niemann-Pick disease type B MONDO:0001982 icd11.foundation:327269975 icd11.foundation:398872780 Niemann-Pick disease +MONDO:0011986 tropical pancreatitis MONDO:0005003 icd11.foundation:1645607956 icd11.foundation:1758007371 chronic pancreatitis +MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0015079 icd11.foundation:157945677 icd11.foundation:1316827435 multiple polyglandular tumor +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 icd11.foundation:1718903422 icd11.foundation:1219932551 osteogenesis imperfecta +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0019052 icd11.foundation:824872160 icd11.foundation:733825440 inborn errors of metabolism +MONDO:0013512 hemoglobin H disease MONDO:0011399 icd11.foundation:9436211 icd11.foundation:531667506 alpha thalassemia spectrum +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0020128 icd11.foundation:1650555742 icd11.foundation:661720689 motor neuron disorder +MONDO:0015516 symbrachydactyly of hands and feet MONDO:0021004 icd11.foundation:159463685 icd11.foundation:598200019 brachydactyly +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0004670 icd11.foundation:192274757 icd11.foundation:1443317238 lupus erythematosus +MONDO:0015574 chronic cutaneous lupus erythematosus MONDO:0004670 icd11.foundation:1849568465 icd11.foundation:1443317238 lupus erythematosus +MONDO:0015643 photosensitive epilepsy MONDO:0017768 icd11.foundation:946957931 icd11.foundation:276807111 reflex epilepsy +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019053 icd11.foundation:260357080 icd11.foundation:782299726 peroxisomal disease +MONDO:0015808 folliculotropic mycosis fungoides MONDO:0015821 icd11.foundation:1335995469 icd11.foundation:2036068731 mycosis fungoides and variants +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0015492 icd11.foundation:835880885 icd11.foundation:1404622826 anti-neutrophil cytoplasmic antibody-associated vasculitis +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0002561 icd11.foundation:1568332253 icd11.foundation:656131403 lysosomal storage disease +MONDO:0016321 pulmonary interstitial glycogenosis MONDO:0017015 icd11.foundation:1386580655 icd11.foundation:1408868257 primary interstitial lung disease specific to childhood +MONDO:0016322 neuroendocrine cell hyperplasia of infancy MONDO:0017015 icd11.foundation:1641999159 icd11.foundation:1408868257 primary interstitial lung disease specific to childhood +MONDO:0016332 hypertrophic cardiomyopathy due to intensive athletic training MONDO:0005045 icd11.foundation:183927358 icd11.foundation:1830681485 hypertrophic cardiomyopathy +MONDO:0016367 dermatomyositis MONDO:0020122 icd11.foundation:739030149 icd11.foundation:464294586 acquired idiopathic inflammatory myopathy +MONDO:0016390 familial hypoparathyroidism MONDO:0001220 icd11.foundation:1907423603 icd11.foundation:1708733050 hypoparathyroidism +MONDO:0016391 neonatal diabetes mellitus MONDO:0005015 icd11.foundation:1217915084 icd11.foundation:465177735 diabetes mellitus +MONDO:0016718 choroid plexus carcinoma MONDO:0016717 icd11.foundation:1128449352 icd11.foundation:1959912502 choroid plexus neoplasm +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0020121 icd11.foundation:749295636 icd11.foundation:1464662404 muscular dystrophy +MONDO:0016971 limb-girdle muscular dystrophy MONDO:0020121 icd11.foundation:887807212 icd11.foundation:1464662404 muscular dystrophy +MONDO:0017062 spina bifida aperta MONDO:0008449 icd11.foundation:187581000 icd11.foundation:2036217905 spina bifida +MONDO:0017069 spina bifida cystica MONDO:0008449 icd11.foundation:979482551 icd11.foundation:2036217905 spina bifida +MONDO:0017276 frontotemporal dementia MONDO:0001627 icd11.foundation:831337417 icd11.foundation:546689346 dementia +MONDO:0017835 lymphocytic hypereosinophilic syndrome MONDO:0015691 icd11.foundation:367714724 icd11.foundation:110429919 hypereosinophilic syndrome +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0015780 icd11.foundation:340127408 icd11.foundation:1531033936 dyskeratosis congenita +MONDO:0018155 lateral sclerosis MONDO:0020128 icd11.foundation:1686688462 icd11.foundation:661720689 motor neuron disorder +MONDO:0018360 neonatal lupus erythematosus MONDO:0004670 icd11.foundation:213855225 icd11.foundation:1443317238 lupus erythematosus +MONDO:0018369 immature ovarian teratoma MONDO:0008170 icd11.foundation:551209361 icd11.foundation:685124533 ovarian cancer +MONDO:0018375 traumatic avascular necrosis MONDO:0005380 icd11.foundation:822486319 icd11.foundation:536467755 osteonecrosis +MONDO:0018380 idiopathic avascular necrosis MONDO:0005380 icd11.foundation:551598148 icd11.foundation:536467755 osteonecrosis +MONDO:0018544 adrenoleukodystrophy MONDO:0019053 icd11.foundation:1085655586 icd11.foundation:782299726 peroxisomal disease +MONDO:0018687 progressive muscular atrophy MONDO:0020128 icd11.foundation:1282359533 icd11.foundation:661720689 motor neuron disorder +MONDO:0018877 retinitis punctata albescens MONDO:0016420 icd11.foundation:567796529 icd11.foundation:979898273 familial flecked retinopathy +MONDO:0018920 peripartum cardiomyopathy MONDO:0004994 icd11.foundation:1218807936 icd11.foundation:282225286 cardiomyopathy +MONDO:0018932 cirrhotic cardiomyopathy MONDO:0004994 icd11.foundation:1268082489 icd11.foundation:282225286 cardiomyopathy +MONDO:0018951 distal myopathy with vocal cord weakness MONDO:0018949 icd11.foundation:1133125258 icd11.foundation:596283352 distal myopathy +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0019222 icd11.foundation:726186034 icd11.foundation:67872354 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0015079 icd11.foundation:1837913809 icd11.foundation:1316827435 multiple polyglandular tumor +MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome MONDO:0005377 icd11.foundation:1385860879 icd11.foundation:1184209951 nephrotic syndrome +MONDO:0019025 extracutaneous mastocytoma MONDO:0007950 icd11.foundation:29932455 icd11.foundation:691643472 mastocytosis +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0017287 icd11.foundation:796087277 icd11.foundation:99883782 IgG4-related disease +MONDO:0019255 sphingolipidosis MONDO:0002561 icd11.foundation:1875237176 icd11.foundation:656131403 lysosomal storage disease +MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 icd11.foundation:1449168185 icd11.foundation:807065795 familial amyloid neuropathy +MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:0020108 icd11.foundation:715111132 icd11.foundation:1834341306 autoimmune hemolytic anemia +MONDO:0019576 telangiectasia macularis eruptiva perstans MONDO:0019023 icd11.foundation:444226072 icd11.foundation:1300710062 cutaneous mastocytosis +MONDO:0019621 chronic pneumonitis of infancy MONDO:0017015 icd11.foundation:1821220054 icd11.foundation:1408868257 primary interstitial lung disease specific to childhood +MONDO:0019669 hypochondrogenesis MONDO:0019694 icd11.foundation:1494246635 icd11.foundation:329165933 spondylodysplastic dysplasia +MONDO:0019732 ALys amyloidosis MONDO:0018634 icd11.foundation:831687561 icd11.foundation:1152878652 hereditary amyloidosis +MONDO:0019733 AFib amyloidosis MONDO:0018634 icd11.foundation:141110588 icd11.foundation:1152878652 hereditary amyloidosis +MONDO:0019773 myelomeningocele MONDO:0008449 icd11.foundation:1200528084 icd11.foundation:2036217905 spina bifida +MONDO:0019959 glucagonoma MONDO:0005815 icd11.foundation:1918063179 icd11.foundation:1421495979 pancreatic neuroendocrine neoplasm +MONDO:0019960 VIPoma MONDO:0005815 icd11.foundation:20634476 icd11.foundation:1421495979 pancreatic neuroendocrine neoplasm +MONDO:0019992 pseudohypoparathyroidism MONDO:0001220 icd11.foundation:1225154856 icd11.foundation:1708733050 hypoparathyroidism +MONDO:0020359 congenital symblepharon MONDO:0020153 icd11.foundation:1595154985 icd11.foundation:740223582 cryptophthalmia +MONDO:0020360 complete cryptophthalmia MONDO:0020153 icd11.foundation:162797488 icd11.foundation:740223582 cryptophthalmia +MONDO:0020361 partial cryptophthalmia MONDO:0020153 icd11.foundation:407675981 icd11.foundation:740223582 cryptophthalmia +MONDO:0020374 cerulean cataract MONDO:0011060 icd11.foundation:1188848969 icd11.foundation:1080602978 early-onset non-syndromic cataract +MONDO:0020518 Hashimoto-Pritzker syndrome MONDO:0018310 icd11.foundation:1011705244 icd11.foundation:216625985 Langerhans cell histiocytosis +MONDO:0020520 adult pulmonary Langerhans cell histiocytosis MONDO:0018310 icd11.foundation:792398738 icd11.foundation:216625985 Langerhans cell histiocytosis +MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0008170 icd11.foundation:148207042 icd11.foundation:685124533 ovarian cancer +MONDO:0023134 febrile ulceronecrotic Mucha-Habermann disease MONDO:0024249 icd11.foundation:1408299147 icd11.foundation:266281219 pityriasis lichenoides +MONDO:0023232 giant cell myocarditis MONDO:0004496 icd11.foundation:507103735 icd11.foundation:1018829714 myocarditis +MONDO:0024472 boutonneuse fever MONDO:0001195 icd11.foundation:1771381430 icd11.foundation:9953620 spotted fever +MONDO:0044014 postpartum thyroiditis MONDO:0004126 icd11.foundation:1577113218 icd11.foundation:587793334 thyroiditis +MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:0017266 icd11.foundation:244597687 icd11.foundation:992865924 keratinopathic ichthyosis +MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0000004 icd11.foundation:1920929898 icd11.foundation:733056203 adrenocortical insufficiency +MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 icd11.foundation:1736273667 icd11.foundation:807065795 familial amyloid neuropathy +MONDO:0957462 primary pulmonary tuberculosis MONDO:0018076 icd11.foundation:882244568 icd11.foundation:2072728114 tuberculosis +MONDO:0958076 myeloschisis MONDO:0008449 icd11.foundation:1547705800 icd11.foundation:2036217905 spina bifida +MONDO:0000521 salivary gland carcinoma MONDO:0002038 NCIT:C9272 NCIT:C35850 head and neck carcinoma +MONDO:0000620 breast benign neoplasm MONDO:0005165 NCIT:C4505 NCIT:C3677 benign neoplasm +MONDO:0000654 benign connective and soft tissue neoplasm MONDO:0005165 NCIT:C53684 NCIT:C3677 benign neoplasm +MONDO:0000919 ampulla of vater cancer MONDO:0002516 NCIT:C3536 NCIT:C4890 digestive system cancer +MONDO:0000921 ampulla of vater neoplasm MONDO:0021223 NCIT:C4443 NCIT:C3052 digestive system neoplasm +MONDO:0001023 prolymphocytic leukemia MONDO:0005402 NCIT:C3181 NCIT:C7539 lymphoid leukemia +MONDO:0001082 lymph node cancer MONDO:0004992 NCIT:C35812 NCIT:C9305 cancer +MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0003098 NCIT:C6627 NCIT:C6624 mediastinal neural neoplasm +MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0005843 NCIT:C6627 NCIT:C3549 mediastinal cancer +MONDO:0001235 appendix cancer MONDO:0002516 NCIT:C9333 NCIT:C4890 digestive system cancer +MONDO:0001236 appendiceal neoplasm MONDO:0021223 NCIT:C4434 NCIT:C3052 digestive system neoplasm +MONDO:0001237 appendix lymphoma MONDO:0004699 NCIT:C5513 NCIT:C38162 gastrointestinal lymphoma +MONDO:0001322 pericardium cancer MONDO:0002100 NCIT:C4567 NCIT:C114940 cardiovascular cancer +MONDO:0001322 pericardium cancer MONDO:0003274 NCIT:C4567 NCIT:C3576 thoracic cancer +MONDO:0001608 vagus nerve neoplasm MONDO:0002633 NCIT:C5831 NCIT:C2963 cranial nerve neoplasm +MONDO:0001740 cornea squamous cell carcinoma MONDO:0005096 NCIT:C4552 NCIT:C2929 squamous cell carcinoma +MONDO:0001748 maxillary sinus carcinoma MONDO:0020669 NCIT:C3540 NCIT:C7487 paranasal sinus cancer +MONDO:0001756 frontal sinus cancer MONDO:0020669 NCIT:C3542 NCIT:C7487 paranasal sinus cancer +MONDO:0001758 paranasal sinus sarcoma MONDO:0020669 NCIT:C6849 NCIT:C7487 paranasal sinus cancer +MONDO:0001763 ethmoid sinus cancer MONDO:0020669 NCIT:C3541 NCIT:C7487 paranasal sinus cancer +MONDO:0001879 anus cancer MONDO:0002516 NCIT:C7379 NCIT:C4890 digestive system cancer +MONDO:0001888 anus lymphoma MONDO:0004699 NCIT:C5601 NCIT:C38162 gastrointestinal lymphoma +MONDO:0001994 sphenoidal sinus cancer MONDO:0020669 NCIT:C3543 NCIT:C7487 paranasal sinus cancer +MONDO:0002072 melanotic neuroectodermal tumor MONDO:0005564 NCIT:C3717 NCIT:C3264 embryonal neoplasm +MONDO:0002143 vaginal yolk sac tumor MONDO:0001402 NCIT:C6379 NCIT:C7410 vaginal cancer +MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0018078 NCIT:C40128 NCIT:C9306 soft tissue sarcoma +MONDO:0002178 placenta cancer MONDO:0001416 NCIT:C3555 NCIT:C4913 female reproductive organ cancer +MONDO:0002197 minor vestibular glands adenoma MONDO:0000643 NCIT:C40301 NCIT:C3611 vulvar benign neoplasm +MONDO:0002236 ocular cancer MONDO:0004992 NCIT:C4767 NCIT:C9305 cancer +MONDO:0002328 intracranial hemangioma MONDO:0006500 NCIT:C3633 NCIT:C3085 hemangioma +MONDO:0002386 mixed epithelial stromal tumor of the kidney MONDO:0021043 NCIT:C37263 NCIT:C6930 mixed neoplasm +MONDO:0002422 adamantinoma MONDO:0002129 NCIT:C7644 NCIT:C4016 bone cancer +MONDO:0002422 adamantinoma MONDO:0005626 NCIT:C7644 NCIT:C3709 epithelial neoplasm +MONDO:0002423 rectosigmoid junction neoplasm MONDO:0005335 NCIT:C4877 NCIT:C2956 colorectal neoplasm +MONDO:0002424 rectosigmoid carcinoma MONDO:0024331 NCIT:C7421 NCIT:C2955 colorectal carcinoma +MONDO:0002425 rectosigmoid junction cancer MONDO:0005575 NCIT:C7420 NCIT:C4978 colorectal cancer +MONDO:0002433 malignant cranial nerve neoplasm MONDO:0005872 NCIT:C3571 NCIT:C4788 nervous system cancer +MONDO:0002460 lacrimal system cancer MONDO:0021220 NCIT:C5102 NCIT:C3030 eye neoplasm +MONDO:0002466 eye carcinoma MONDO:0004993 NCIT:C6079 NCIT:C2916 carcinoma +MONDO:0002481 ovarian neuroendocrine neoplasm MONDO:0021068 NCIT:C5237 NCIT:C4984 ovarian neoplasm +MONDO:0002486 lobular neoplasia MONDO:0021100 NCIT:C27939 NCIT:C2910 breast neoplasm +MONDO:0002542 spinal cord glioma MONDO:0021042 NCIT:C4534 NCIT:C3059 glioma +MONDO:0002542 spinal cord glioma MONDO:0021234 NCIT:C4534 NCIT:C3381 spinal cord neoplasm +MONDO:0002558 melanotic neurilemmoma MONDO:0002547 NCIT:C6970 NCIT:C4972 nerve sheath neoplasm +MONDO:0002633 cranial nerve neoplasm MONDO:0021248 NCIT:C2963 NCIT:C3268 nervous system neoplasm +MONDO:0002652 anus adenocarcinoma MONDO:0004970 NCIT:C5600 NCIT:C2852 adenocarcinoma +MONDO:0002669 ampullary signet ring cell adenocarcinoma MONDO:0005092 NCIT:C6656 NCIT:C3774 signet ring cell carcinoma +MONDO:0002670 ampulla of vater adenocarcinoma MONDO:0004970 NCIT:C6650 NCIT:C2852 adenocarcinoma +MONDO:0002676 adult fibrosarcoma MONDO:0005164 NCIT:C7809 NCIT:C3043 fibrosarcoma +MONDO:0002681 choroid plexus cancer MONDO:0001657 NCIT:C4533 NCIT:C3568 brain cancer +MONDO:0002682 cerebral ventricle cancer MONDO:0021211 NCIT:C2937 NCIT:C2907 brain neoplasm +MONDO:0002707 breast mucinous carcinoma MONDO:0004988 NCIT:C9131 NCIT:C5214 breast adenocarcinoma +MONDO:0002707 breast mucinous carcinoma MONDO:0006256 NCIT:C9131 NCIT:C9245 invasive breast carcinoma +MONDO:0002717 spinal cord intramedullary teratoma MONDO:0021234 NCIT:C5428 NCIT:C3381 spinal cord neoplasm +MONDO:0002734 anal mucinous adenocarcinoma MONDO:0004957 NCIT:C5606 NCIT:C26712 mucinous adenocarcinoma +MONDO:0002736 ampulla of vater mucinous adenocarcinoma MONDO:0004957 NCIT:C27416 NCIT:C26712 mucinous adenocarcinoma +MONDO:0002740 uterine ligament mucinous adenocarcinoma MONDO:0004957 NCIT:C40137 NCIT:C26712 mucinous adenocarcinoma +MONDO:0002741 uterine ligament adenocarcinoma MONDO:0004970 NCIT:C40135 NCIT:C2852 adenocarcinoma +MONDO:0002756 solitary plasmacytoma of chest wall MONDO:0021323 NCIT:C6711 NCIT:C4580 malignant neoplasm of chest wall +MONDO:0002790 seminal vesicle tumor MONDO:0024582 NCIT:C39908 NCIT:C3054 male reproductive system neoplasm +MONDO:0002889 orbital cancer MONDO:0005627 NCIT:C3562 NCIT:C4013 head and neck cancer +MONDO:0002898 skin cancer MONDO:0004992 NCIT:C2920 NCIT:C9305 cancer +MONDO:0002900 cerebral neuroblastoma MONDO:0002714 NCIT:C4826 NCIT:C4627 central nervous system cancer +MONDO:0002911 brain stem glioma MONDO:0021042 NCIT:C8501 NCIT:C3059 glioma +MONDO:0002914 childhood brain stem neoplasm MONDO:0021228 NCIT:C5969 NCIT:C4869 brainstem neoplasm +MONDO:0002923 uterine corpus endometrial stromal sarcoma MONDO:0011962 NCIT:C40219 NCIT:C27815 endometrial cancer +MONDO:0002935 penis basal cell carcinoma MONDO:0006360 NCIT:C39961 NCIT:C9061 penile carcinoma +MONDO:0002936 scrotum basal cell carcinoma MONDO:0002650 NCIT:C6386 NCIT:C6389 scrotal carcinoma +MONDO:0002940 anal margin basal cell carcinoma MONDO:0002941 NCIT:C7473 NCIT:C7472 anal margin carcinoma +MONDO:0002943 external ear basal cell carcinoma MONDO:0002944 NCIT:C6082 NCIT:C6081 external ear carcinoma +MONDO:0002955 vulva basal cell carcinoma MONDO:0005215 NCIT:C6381 NCIT:C4866 vulvar carcinoma +MONDO:0002957 sarcomatoid basal cell carcinoma MONDO:0006406 NCIT:C38111 NCIT:C27004 sarcomatoid carcinoma +MONDO:0002969 ciliary body cancer MONDO:0002659 NCIT:C4766 NCIT:C6105 uveal cancer +MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0021163 NCIT:C4524 NCIT:C3150 kidney neoplasm +MONDO:0003011 mucinous tubular and spindle renal cell carcinoma MONDO:0005206 NCIT:C39807 NCIT:C9384 renal carcinoma +MONDO:0003036 mucoepidermoid carcinoma MONDO:0020596 NCIT:C3772 NCIT:C27825 mucin-producing carcinoma +MONDO:0003046 anus neoplasm MONDO:0021223 NCIT:C2877 NCIT:C3052 digestive system neoplasm +MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0006451 NCIT:C6457 NCIT:C7569 thymic carcinoma +MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma MONDO:0003090 NCIT:C5862 NCIT:C3860 extrahepatic bile duct carcinoma +MONDO:0003092 lacrimal gland mucoepidermoid carcinoma MONDO:0002463 NCIT:C6091 NCIT:C6129 lacrimal gland carcinoma +MONDO:0003093 mucoepidermoid esophageal carcinoma MONDO:0019086 NCIT:C5343 NCIT:C3513 carcinoma of esophagus +MONDO:0003103 nerve root neoplasm MONDO:0021248 NCIT:C5119 NCIT:C3268 nervous system neoplasm +MONDO:0003104 epicardium cancer MONDO:0001340 NCIT:C4568 NCIT:C3548 heart cancer +MONDO:0003154 hemangioma of peripheral nerve MONDO:0000648 NCIT:C27507 NCIT:C4789 nervous system benign neoplasm +MONDO:0003154 hemangioma of peripheral nerve MONDO:0001406 NCIT:C27507 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0003154 hemangioma of peripheral nerve MONDO:0006500 NCIT:C27507 NCIT:C3085 hemangioma +MONDO:0003171 pineal gland astrocytoma MONDO:0021232 NCIT:C8274 NCIT:C3328 pineal body neoplasm +MONDO:0003171 pineal gland astrocytoma MONDO:0021631 NCIT:C8274 NCIT:C60780 brain astrocytoma +MONDO:0003181 lung adenoid cystic carcinoma MONDO:0005138 NCIT:C5666 NCIT:C4878 lung carcinoma +MONDO:0003186 esophageal adenoid cystic carcinoma MONDO:0019086 NCIT:C5342 NCIT:C3513 carcinoma of esophagus +MONDO:0003187 Bartholin gland adenoid cystic carcinoma MONDO:0002829 NCIT:C40295 NCIT:C9055 bartholin gland carcinoma +MONDO:0003191 rete ovarii adenocarcinoma MONDO:0001416 NCIT:C40017 NCIT:C4913 female reproductive organ cancer +MONDO:0003191 rete ovarii adenocarcinoma MONDO:0004970 NCIT:C40017 NCIT:C2852 adenocarcinoma +MONDO:0003192 rete ovarii neoplasm MONDO:0021148 NCIT:C40016 NCIT:C3053 female reproductive system neoplasm +MONDO:0003196 appendix carcinoma MONDO:0006181 NCIT:C9330 NCIT:C96963 digestive system carcinoma +MONDO:0003199 anal carcinoma MONDO:0006181 NCIT:C9291 NCIT:C96963 digestive system carcinoma +MONDO:0003205 renal pelvis adenocarcinoma MONDO:0004970 NCIT:C6143 NCIT:C2852 adenocarcinoma +MONDO:0003208 breast secretory carcinoma MONDO:0006256 NCIT:C4189 NCIT:C9245 invasive breast carcinoma +MONDO:0003210 intrahepatic cholangiocarcinoma MONDO:0018531 NCIT:C35417 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract +MONDO:0003223 meninges hemangiopericytoma MONDO:0016743 NCIT:C4660 NCIT:C3229 tumor of meninges +MONDO:0003249 pineal gland cancer MONDO:0002071 NCIT:C3573 NCIT:C4964 supratentorial cancer +MONDO:0003250 benign granular cell tumor MONDO:0000648 NCIT:C3252 NCIT:C4789 nervous system benign neoplasm +MONDO:0003254 cardiac granular cell neoplasm MONDO:0006235 NCIT:C5360 NCIT:C3474 granular cell tumor +MONDO:0003254 cardiac granular cell neoplasm MONDO:0021379 NCIT:C5360 NCIT:C5347 neoplasm of epicardium +MONDO:0003308 pleural mesothelioma MONDO:0006856 NCIT:C9351 NCIT:C3786 mesothelial neoplasm +MONDO:0003332 malignant struma ovarii MONDO:0002372 NCIT:C4291 NCIT:C8113 ovarian monodermal and highly specialized teratoma +MONDO:0003332 malignant struma ovarii MONDO:0018171 NCIT:C4291 NCIT:C4514 malignant germ cell tumor of ovary +MONDO:0003343 retinal hemangioblastoma MONDO:0021231 NCIT:C39783 NCIT:C4800 retina neoplasm +MONDO:0003345 hilar cholangiocarcinoma MONDO:0019087 NCIT:C36077 NCIT:C4436 cholangiocarcinoma +MONDO:0003350 granular cell leiomyosarcoma MONDO:0005058 NCIT:C27494 NCIT:C3158 leiomyosarcoma +MONDO:0003384 uterine ligament clear cell adenocarcinoma MONDO:0005004 NCIT:C40139 NCIT:C3766 clear cell adenocarcinoma +MONDO:0003386 bladder clear cell adenocarcinoma MONDO:0004986 NCIT:C6179 NCIT:C4912 urinary bladder carcinoma +MONDO:0003388 ampulla of vater clear cell adenocarcinoma MONDO:0005004 NCIT:C27414 NCIT:C3766 clear cell adenocarcinoma +MONDO:0003399 pineal region yolk sac tumor MONDO:0016739 NCIT:C6752 NCIT:C7011 yolk sac tumor of central nervous system +MONDO:0003420 bile duct cystadenoma MONDO:0021662 NCIT:C4129 NCIT:C2898 bile duct neoplasm +MONDO:0003423 middle ear adenoma MONDO:0021366 NCIT:C6834 NCIT:C4412 neoplasm of middle ear +MONDO:0003428 brain hemangioma MONDO:0021451 NCIT:C7739 NCIT:C4781 benign neoplasm of brain +MONDO:0003429 functioning pituitary gland adenoma MONDO:0021120 NCIT:C8388 NCIT:C94759 functioning endocrine neoplasm +MONDO:0003455 bile duct papillary neoplasm MONDO:0021096 NCIT:C6881 NCIT:C8429 papillary epithelial neoplasm +MONDO:0003473 spinal cord ependymoma MONDO:0002542 NCIT:C3875 NCIT:C4534 spinal cord glioma +MONDO:0003481 dysgerminoma of ovary MONDO:0020580 NCIT:C8106 NCIT:C121618 germinomatous germ cell tumor +MONDO:0003490 ampulla of vater squamous cell carcinoma MONDO:0005096 NCIT:C27417 NCIT:C2929 squamous cell carcinoma +MONDO:0003492 lacrimal gland squamous cell carcinoma MONDO:0005096 NCIT:C6092 NCIT:C2929 squamous cell carcinoma +MONDO:0003504 anal canal neuroendocrine neoplasm MONDO:0003046 NCIT:C5603 NCIT:C2877 anus neoplasm +MONDO:0003504 anal canal neuroendocrine neoplasm MONDO:0024503 NCIT:C5603 NCIT:C27721 digestive system neuroendocrine neoplasm +MONDO:0003508 choriocarcinoma of testis MONDO:0002874 NCIT:C7733 NCIT:C39915 testicular pure germ cell tumor +MONDO:0003532 breast papillary carcinoma MONDO:0004988 NCIT:C9134 NCIT:C5214 breast adenocarcinoma +MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0019086 NCIT:C27421 NCIT:C3513 carcinoma of esophagus +MONDO:0003551 thymic adenosquamous carcinoma MONDO:0006451 NCIT:C6458 NCIT:C7569 thymic carcinoma +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0006074 NCIT:C27418 NCIT:C3727 adenosquamous carcinoma +MONDO:0003553 ampulla of vater adenosquamous carcinoma MONDO:0017590 NCIT:C27418 NCIT:C3908 carcinoma of the ampulla of vater +MONDO:0003554 adenosquamous colon carcinoma MONDO:0002032 NCIT:C5491 NCIT:C4910 colon carcinoma +MONDO:0003555 Bartholin gland adenosquamous carcinoma MONDO:0002829 NCIT:C40296 NCIT:C9055 bartholin gland carcinoma +MONDO:0003556 endometrial adenosquamous carcinoma MONDO:0002447 NCIT:C114656 NCIT:C7558 endometrial carcinoma +MONDO:0003578 extragonadal nonseminomatous germ cell tumor MONDO:0021656 NCIT:C8885 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0003610 rete ovarii cystadenoma MONDO:0002369 NCIT:C40019 NCIT:C2972 cystadenoma +MONDO:0003610 rete ovarii cystadenoma MONDO:0003192 NCIT:C40019 NCIT:C40016 rete ovarii neoplasm +MONDO:0003612 uterine ligament cancer MONDO:0001416 NCIT:C126498 NCIT:C4913 female reproductive organ cancer +MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor MONDO:0019954 NCIT:C27454 NCIT:C27720 pancreatic neuroendocrine tumor +MONDO:0003624 acinic cell breast carcinoma MONDO:0004988 NCIT:C40367 NCIT:C5214 breast adenocarcinoma +MONDO:0003624 acinic cell breast carcinoma MONDO:0006256 NCIT:C40367 NCIT:C9245 invasive breast carcinoma +MONDO:0003638 lung meningioma MONDO:0021117 NCIT:C5668 NCIT:C3200 lung neoplasm +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0002165 NCIT:C5698 NCIT:C3350 rectal neoplasm +MONDO:0003663 uterine ligament endometrioid adenocarcinoma MONDO:0005026 NCIT:C40138 NCIT:C3769 endometrioid adenocarcinoma +MONDO:0003680 periosteal chondrosarcoma MONDO:0008977 NCIT:C7357 NCIT:C2946 chondrosarcoma +MONDO:0003684 clear cell chondrosarcoma MONDO:0008977 NCIT:C6475 NCIT:C2946 chondrosarcoma +MONDO:0003688 well differentiated papillary mesothelioma MONDO:0006856 NCIT:C7635 NCIT:C3786 mesothelial neoplasm +MONDO:0003746 ciliary body spindle cell melanoma MONDO:0003744 NCIT:C6117 NCIT:C7986 spindle cell intraocular melanoma +MONDO:0003761 leptomeningeal melanoma MONDO:0006320 NCIT:C5317 NCIT:C8711 non-cutaneous melanoma +MONDO:0003772 cerebral meningioma MONDO:0021374 NCIT:C4807 NCIT:C4874 neoplasm of cerebral hemisphere +MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004949 NCIT:C27911 NCIT:C27910 neoplasm of mature B-cells +MONDO:0003886 mucinous cystadenofibroma MONDO:0000624 NCIT:C8979 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0003901 cerebellar hemangioblastoma MONDO:0002913 NCIT:C5146 NCIT:C2935 cerebellar neoplasm +MONDO:0003912 malignant ciliary body melanoma MONDO:0006486 NCIT:C4558 NCIT:C7712 uveal melanoma +MONDO:0003924 adrenal cortex adenoma MONDO:0000627 NCIT:C9003 NCIT:C4621 benign endocrine neoplasm +MONDO:0003931 childhood optic tract astrocytoma MONDO:0021631 NCIT:C7534 NCIT:C60780 brain astrocytoma +MONDO:0003932 childhood optic nerve glioma MONDO:0016167 NCIT:C7535 NCIT:C8567 optic pathway glioma +MONDO:0003934 breast apocrine carcinoma MONDO:0004988 NCIT:C5141 NCIT:C5214 breast adenocarcinoma +MONDO:0003936 invasive tubular breast carcinoma MONDO:0004988 NCIT:C9135 NCIT:C5214 breast adenocarcinoma +MONDO:0003936 invasive tubular breast carcinoma MONDO:0006256 NCIT:C9135 NCIT:C9245 invasive breast carcinoma +MONDO:0003979 intrahepatic bile duct cystadenoma MONDO:0024477 NCIT:C96835 NCIT:C7106 liver and intrahepatic bile duct neoplasm +MONDO:0004005 rete ovarii adenoma MONDO:0000624 NCIT:C40018 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0004005 rete ovarii adenoma MONDO:0004972 NCIT:C40018 NCIT:C2855 adenoma +MONDO:0004005 rete ovarii adenoma MONDO:0036976 NCIT:C40018 NCIT:C4092 benign epithelial neoplasm +MONDO:0004066 intermediate cell type ciliary body melanoma MONDO:0004062 NCIT:C6118 NCIT:C7989 intermediate cell type uveal melanoma +MONDO:0004078 mucinous intrahepatic cholangiocarcinoma MONDO:0004957 NCIT:C41618 NCIT:C26712 mucinous adenocarcinoma +MONDO:0004079 lung mucous gland adenoma MONDO:0003422 NCIT:C5664 NCIT:C4455 lung adenoma +MONDO:0004095 B-cell neoplasm MONDO:0005157 NCIT:C27907 NCIT:C7065 lymphoid neoplasm +MONDO:0004131 anal verrucous carcinoma MONDO:0006006 NCIT:C7470 NCIT:C3781 verrucous carcinoma +MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0002116 NCIT:C41246 NCIT:C7430 malignant exocrine pancreas neoplasm +MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0005858 NCIT:C41246 NCIT:C3776 mucinous cystadenocarcinoma +MONDO:0004173 adenocarcinoma of skene gland origin MONDO:0004970 NCIT:C39863 NCIT:C2852 adenocarcinoma +MONDO:0004230 adenomatoid tumor MONDO:0006856 NCIT:C3762 NCIT:C3786 mesothelial neoplasm +MONDO:0004255 Wolffian adnexal tumor MONDO:0021148 NCIT:C40141 NCIT:C3053 female reproductive system neoplasm +MONDO:0004311 carcinoma of Cowper glands MONDO:0004197 NCIT:C39864 NCIT:C39867 male urethral cancer +MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor MONDO:0019954 NCIT:C27466 NCIT:C27720 pancreatic neuroendocrine tumor +MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma MONDO:0005092 NCIT:C41619 NCIT:C3774 signet ring cell carcinoma +MONDO:0004412 malignant spiradenoma MONDO:0005524 NCIT:C5117 NCIT:C6938 sweat gland carcinoma +MONDO:0004420 breast malignant eccrine spiradenoma MONDO:0007254 NCIT:C5180 NCIT:C9335 breast cancer +MONDO:0004462 extrahepatic bile duct cystadenoma MONDO:0021385 NCIT:C5851 NCIT:C4441 extrahepatic bile duct neoplasm +MONDO:0004465 periampullary adenocarcinoma MONDO:0006186 NCIT:C27322 NCIT:C7889 duodenal adenocarcinoma +MONDO:0004473 epiglottis cancer MONDO:0001724 NCIT:C4836 NCIT:C3545 supraglottis cancer +MONDO:0004477 adrenal gland ganglioneuroblastoma MONDO:0003606 NCIT:C7646 NCIT:C4396 adrenal medulla cancer +MONDO:0004509 intrahepatic biliary papillomatosis MONDO:0024477 NCIT:C7125 NCIT:C7106 liver and intrahepatic bile duct neoplasm +MONDO:0004555 kidney angiomyolipoma MONDO:0021163 NCIT:C3888 NCIT:C3150 kidney neoplasm +MONDO:0004643 myeloid leukemia MONDO:0005170 NCIT:C3172 NCIT:C9290 myeloid neoplasm +MONDO:0004643 myeloid leukemia MONDO:0021138 NCIT:C3172 NCIT:C35501 bone marrow cancer +MONDO:0004820 peripheral nerve schwannoma MONDO:0001406 NCIT:C41430 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0004947 B-cell acute lymphoblastic leukemia MONDO:0003538 NCIT:C8936 NCIT:C7055 precursor lymphoblastic lymphoma/leukemia +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0005402 NCIT:C3163 NCIT:C7539 lymphoid leukemia +MONDO:0004957 mucinous adenocarcinoma MONDO:0024338 NCIT:C26712 NCIT:C7070 mucinous neoplasm +MONDO:0004971 adenoid cystic carcinoma MONDO:0004993 NCIT:C2970 NCIT:C2916 carcinoma +MONDO:0004973 adenosquamous lung carcinoma MONDO:0005233 NCIT:C9133 NCIT:C2926 non-small cell lung carcinoma +MONDO:0004984 basal-like breast carcinoma MONDO:0006116 NCIT:C53558 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0005013 dedifferentiated chondrosarcoma MONDO:0008977 NCIT:C6476 NCIT:C2946 chondrosarcoma +MONDO:0005032 follicular thyroid adenoma MONDO:0000627 NCIT:C3502 NCIT:C4621 benign endocrine neoplasm +MONDO:0005055 Kaposi's sarcoma MONDO:0002095 NCIT:C9087 NCIT:C8538 vascular cancer +MONDO:0005058 leiomyosarcoma MONDO:0005089 NCIT:C3158 NCIT:C9118 sarcoma +MONDO:0005060 liposarcoma MONDO:0005089 NCIT:C3194 NCIT:C9118 sarcoma +MONDO:0005060 liposarcoma MONDO:0021354 NCIT:C3194 NCIT:C4248 tumor of adipose tissue +MONDO:0005070 neoplasm MONDO:0000001 NCIT:C3262 NCIT:C2991 disease +MONDO:0005073 melanocytic nevus MONDO:0021143 NCIT:C7570 NCIT:C7058 melanocytic neoplasm +MONDO:0005164 fibrosarcoma MONDO:0005089 NCIT:C3043 NCIT:C9118 sarcoma +MONDO:0005212 rhabdomyosarcoma MONDO:0005089 NCIT:C3359 NCIT:C9118 sarcoma +MONDO:0005220 collecting duct carcinoma MONDO:0005206 NCIT:C6194 NCIT:C9384 renal carcinoma +MONDO:0005341 skin basal cell carcinoma MONDO:0002656 NCIT:C2921 NCIT:C4914 skin carcinoma +MONDO:0005440 embryonal carcinoma MONDO:0006290 NCIT:C3752 NCIT:C4925 malignant germ cell tumor +MONDO:0005440 embryonal carcinoma MONDO:0021656 NCIT:C3752 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0005494 triple-negative breast carcinoma MONDO:0006116 NCIT:C71732 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0005496 bile duct carcinoma MONDO:0021662 NCIT:C27814 NCIT:C2898 bile duct neoplasm +MONDO:0005549 renal cell adenocarcinoma MONDO:0004970 NCIT:C9385 NCIT:C2852 adenocarcinoma +MONDO:0005549 renal cell adenocarcinoma MONDO:0005206 NCIT:C9385 NCIT:C9384 renal carcinoma +MONDO:0005563 nut midline carcinoma MONDO:0004993 NCIT:C45716 NCIT:C2916 carcinoma +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0005192 NCIT:C5721 NCIT:C3850 exocrine pancreatic carcinoma +MONDO:0005616 pulmonary mucoepidermoid carcinoma MONDO:0005138 NCIT:C45544 NCIT:C4878 lung carcinoma +MONDO:0005744 yolk sac tumor MONDO:0006290 NCIT:C3011 NCIT:C4925 malignant germ cell tumor +MONDO:0005744 yolk sac tumor MONDO:0021656 NCIT:C3011 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0005764 follicular dendritic cell sarcoma MONDO:0005089 NCIT:C9281 NCIT:C9118 sarcoma +MONDO:0005764 follicular dendritic cell sarcoma MONDO:0006247 NCIT:C9281 NCIT:C9294 histiocytic and dendritic cell neoplasm +MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:0005089 NCIT:C9282 NCIT:C9118 sarcoma +MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:0006247 NCIT:C9282 NCIT:C9294 histiocytic and dendritic cell neoplasm +MONDO:0005837 mandibular cancer MONDO:0002129 NCIT:C35178 NCIT:C4016 bone cancer +MONDO:0005966 spleen cancer MONDO:0004992 NCIT:C3539 NCIT:C9305 cancer +MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0002911 NCIT:C94764 NCIT:C8501 brain stem glioma +MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0002912 NCIT:C94764 NCIT:C3570 brainstem cancer +MONDO:0006034 gastric adenosquamous carcinoma MONDO:0004950 NCIT:C5474 NCIT:C4911 gastric carcinoma +MONDO:0006056 squamous cell breast carcinoma MONDO:0006256 NCIT:C5177 NCIT:C9245 invasive breast carcinoma +MONDO:0006081 anal melanoma MONDO:0045070 NCIT:C4639 NCIT:C7091 digestive system melanoma +MONDO:0006082 anal squamous cell carcinoma MONDO:0005096 NCIT:C9161 NCIT:C2929 squamous cell carcinoma +MONDO:0006087 appendix adenocarcinoma MONDO:0004970 NCIT:C7718 NCIT:C2852 adenocarcinoma +MONDO:0006088 appendix adenoma MONDO:0006180 NCIT:C43550 NCIT:C36207 digestive system adenoma +MONDO:0006092 appendix villous adenoma MONDO:0000502 NCIT:C5512 NCIT:C7399 villous adenoma +MONDO:0006132 cervical adenoid basal carcinoma MONDO:0005131 NCIT:C40213 NCIT:C9039 cervical carcinoma +MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0005131 NCIT:C6346 NCIT:C9039 cervical carcinoma +MONDO:0006134 cervical adenosquamous carcinoma MONDO:0005131 NCIT:C4519 NCIT:C9039 cervical carcinoma +MONDO:0006157 colorectal adenosquamous carcinoma MONDO:0024331 NCIT:C43589 NCIT:C2955 colorectal carcinoma +MONDO:0006173 conjunctival squamous cell carcinoma MONDO:0005096 NCIT:C4549 NCIT:C2929 squamous cell carcinoma +MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma MONDO:0003090 NCIT:C5778 NCIT:C3860 extrahepatic bile duct carcinoma +MONDO:0006202 extrahepatic bile duct adenosquamous carcinoma MONDO:0006074 NCIT:C5778 NCIT:C3727 adenosquamous carcinoma +MONDO:0006203 extrahepatic bile duct squamous cell carcinoma MONDO:0005096 NCIT:C5777 NCIT:C2929 squamous cell carcinoma +MONDO:0006207 fallopian tube carcinosarcoma MONDO:0002158 NCIT:C40124 NCIT:C7480 fallopian tube cancer +MONDO:0006217 gallbladder adenosquamous carcinoma MONDO:0003220 NCIT:C7356 NCIT:C3844 gallbladder carcinoma +MONDO:0006232 giant cell tumor of soft tissue MONDO:0002171 NCIT:C49107 NCIT:C3055 giant cell tumor +MONDO:0006260 kidney medullary carcinoma MONDO:0005206 NCIT:C7572 NCIT:C9384 renal carcinoma +MONDO:0006262 lacrimal gland adenoid cystic carcinoma MONDO:0002463 NCIT:C4540 NCIT:C6129 lacrimal gland carcinoma +MONDO:0006270 lobular breast carcinoma in situ MONDO:0004658 NCIT:C4018 NCIT:C3641 breast carcinoma in situ +MONDO:0006279 lung sarcomatoid carcinoma MONDO:0005233 NCIT:C45540 NCIT:C2926 non-small cell lung carcinoma +MONDO:0006283 lymphoepithelioma-like lung carcinoma MONDO:0005233 NCIT:C45519 NCIT:C2926 non-small cell lung carcinoma +MONDO:0006288 malignant adrenal gland pheochromocytoma MONDO:0003606 NCIT:C4220 NCIT:C4396 adrenal medulla cancer +MONDO:0006292 malignant mesothelioma MONDO:0006856 NCIT:C4456 NCIT:C3786 mesothelial neoplasm +MONDO:0006311 myelodysplastic/myeloproliferative neoplasm MONDO:0005170 NCIT:C27262 NCIT:C9290 myeloid neoplasm +MONDO:0006311 myelodysplastic/myeloproliferative neoplasm MONDO:0021138 NCIT:C27262 NCIT:C35501 bone marrow cancer +MONDO:0006317 neurothekeoma MONDO:0001406 NCIT:C7018 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0006362 peritoneal mesothelioma MONDO:0006856 NCIT:C7633 NCIT:C3786 mesothelial neoplasm +MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0017595 NCIT:C45194 NCIT:C178541 aggressive B-cell non-Hodgkin lymphoma +MONDO:0006386 primary peritoneal serous adenocarcinoma MONDO:0005278 NCIT:C40023 NCIT:C40101 serous adenocarcinoma +MONDO:0006401 salivary gland adenosquamous carcinoma MONDO:0000521 NCIT:C35737 NCIT:C9272 salivary gland carcinoma +MONDO:0006402 salivary gland basal cell adenocarcinoma MONDO:0020804 NCIT:C3678 NCIT:C156767 basal cell carcinoma +MONDO:0006450 therapy-related myeloid neoplasm MONDO:0005170 NCIT:C27912 NCIT:C9290 myeloid neoplasm +MONDO:0006450 therapy-related myeloid neoplasm MONDO:0021138 NCIT:C27912 NCIT:C35501 bone marrow cancer +MONDO:0006463 thyroid gland mucoepidermoid carcinoma MONDO:0015075 NCIT:C38762 NCIT:C4815 thyroid gland carcinoma +MONDO:0006487 vaginal adenoid cystic carcinoma MONDO:0015867 NCIT:C40261 NCIT:C3917 vaginal carcinoma +MONDO:0006493 Warthin tumor MONDO:0004972 NCIT:C2854 NCIT:C2855 adenoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0001502 NCIT:C9325 NCIT:C7352 retroperitoneum carcinoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0004970 NCIT:C9325 NCIT:C2852 adenocarcinoma +MONDO:0006639 adrenal cortex carcinoma MONDO:0021069 NCIT:C9325 NCIT:C3575 malignant endocrine neoplasm +MONDO:0006861 myeloid sarcoma MONDO:0004992 NCIT:C3520 NCIT:C9305 cancer +MONDO:0006861 myeloid sarcoma MONDO:0005170 NCIT:C3520 NCIT:C9290 myeloid neoplasm +MONDO:0006890 parathyroid gland adenoma MONDO:0000627 NCIT:C156757 NCIT:C4621 benign endocrine neoplasm +MONDO:0006976 somatostatinoma MONDO:0000386 NCIT:C3379 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0007254 breast cancer MONDO:0004992 NCIT:C9335 NCIT:C9305 cancer +MONDO:0007667 subependymoma MONDO:0003266 NCIT:C3795 NCIT:C6770 ependymal tumor +MONDO:0008075 schwannomatosis MONDO:0015356 NCIT:C6557 NCIT:C3266 hereditary neoplastic syndrome +MONDO:0008380 retinoblastoma MONDO:0003072 NCIT:C7541 NCIT:C3216 retinal cancer +MONDO:0008380 retinoblastoma MONDO:0024341 NCIT:C7541 NCIT:C7061 retinal cell neoplasm +MONDO:0009755 neutrophil actin dysfunction MONDO:0021583 NCIT:C3694 NCIT:C7161 melanocytic skin neoplasm +MONDO:0010108 testicular germ cell tumor MONDO:0002259 NCIT:C8591 NCIT:C26786 gonadal disorder +MONDO:0010108 testicular germ cell tumor MONDO:0005040 NCIT:C8591 NCIT:C3708 germ cell tumor +MONDO:0011014 pleuropulmonary blastoma MONDO:0005565 NCIT:C5669 NCIT:C8997 blastoma +MONDO:0011366 ovarian germ cell tumor MONDO:0002259 NCIT:C3873 NCIT:C26786 gonadal disorder +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0020076 NCIT:C3174 NCIT:C4345 myeloproliferative neoplasm +MONDO:0012004 parathyroid gland carcinoma MONDO:0021069 NCIT:C4906 NCIT:C3575 malignant endocrine neoplasm +MONDO:0013280 myxoid liposarcoma MONDO:0005060 NCIT:C27781 NCIT:C3194 liposarcoma +MONDO:0015032 intraneural perineurioma MONDO:0001406 NCIT:C6911 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0015041 myelodysplastic syndrome with excess blasts-2 MONDO:0018881 NCIT:C7168 NCIT:C3247 myelodysplastic syndrome +MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0021375 NCIT:C135080 NCIT:C2995 tumor of duodenum +MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0000386 NCIT:C96422 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0000386 NCIT:C96540 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0015075 NCIT:C3879 NCIT:C4815 thyroid gland carcinoma +MONDO:0015686 primary peritoneal carcinoma MONDO:0002087 NCIT:C40022 NCIT:C3538 peritoneum cancer +MONDO:0015686 primary peritoneal carcinoma MONDO:0004993 NCIT:C40022 NCIT:C2916 carcinoma +MONDO:0015814 primary cutaneous follicle center lymphoma MONDO:0017594 NCIT:C7217 NCIT:C171299 indolent B-cell non-Hodgkin lymphoma +MONDO:0015863 polyembryoma MONDO:0006290 NCIT:C66776 NCIT:C4925 malignant germ cell tumor +MONDO:0016039 infantile digital fibromatosis MONDO:0005031 NCIT:C3456 NCIT:C3042 fibromatosis +MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0006003 NCIT:C9180 NCIT:C61574 uterine corpus cancer +MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0018078 NCIT:C128048 NCIT:C9306 soft tissue sarcoma +MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0018078 NCIT:C128047 NCIT:C9306 soft tissue sarcoma +MONDO:0016683 gliomatosis cerebri MONDO:0001657 NCIT:C4318 NCIT:C3568 brain cancer +MONDO:0016686 diffuse astrocytoma MONDO:0021638 NCIT:C7173 NCIT:C116342 low grade astrocytic tumor +MONDO:0016690 pleomorphic xanthoastrocytoma MONDO:0019781 NCIT:C4323 NCIT:C60781 astrocytoma (excluding glioblastoma) +MONDO:0016691 pilocytic astrocytoma MONDO:0021638 NCIT:C4047 NCIT:C116342 low grade astrocytic tumor +MONDO:0016692 pilomyxoid astrocytoma MONDO:0019781 NCIT:C40315 NCIT:C60781 astrocytoma (excluding glioblastoma) +MONDO:0016693 subependymal giant cell astrocytoma MONDO:0021638 NCIT:C3696 NCIT:C116342 low grade astrocytic tumor +MONDO:0016703 anaplastic oligoastrocytoma MONDO:0003268 NCIT:C6959 NCIT:C3903 mixed glioma +MONDO:0016706 chordoid glioma of the third ventricle MONDO:0021042 NCIT:C5592 NCIT:C3059 glioma +MONDO:0016734 anaplastic ganglioglioma MONDO:0016729 NCIT:C4717 NCIT:C4747 mixed neuronal-glial tumor +MONDO:0016739 yolk sac tumor of central nervous system MONDO:0003578 NCIT:C7011 NCIT:C8885 extragonadal nonseminomatous germ cell tumor +MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0015864 NCIT:C7016 NCIT:C4290 mixed germ cell tumor +MONDO:0016755 neurofibroma MONDO:0001406 NCIT:C3272 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0016982 angiosarcoma MONDO:0005089 NCIT:C3088 NCIT:C9118 sarcoma +MONDO:0017048 pseudomyxoma peritonei MONDO:0004957 NCIT:C3345 NCIT:C26712 mucinous adenocarcinoma +MONDO:0017169 multiple endocrine neoplasia MONDO:0021058 NCIT:C6432 NCIT:C54705 neoplastic syndrome +MONDO:0017364 POEMS syndrome MONDO:0002254 NCIT:C80303 NCIT:C28193 syndromic disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0021069 NCIT:C4536 NCIT:C3575 malignant endocrine neoplasm +MONDO:0017600 hairy cell leukemia variant MONDO:0001014 NCIT:C7401 NCIT:C3483 chronic leukemia +MONDO:0017600 hairy cell leukemia variant MONDO:0005402 NCIT:C7401 NCIT:C7539 lymphoid leukemia +MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0005089 NCIT:C3798 NCIT:C9118 sarcoma +MONDO:0018171 malignant germ cell tumor of ovary MONDO:0008170 NCIT:C4514 NCIT:C7431 ovarian cancer +MONDO:0018172 malignant sex cord stromal tumor of ovary MONDO:0008170 NCIT:C8053 NCIT:C7431 ovarian cancer +MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0004957 NCIT:C43558 NCIT:C26712 mucinous adenocarcinoma +MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0019086 NCIT:C27422 NCIT:C3513 carcinoma of esophagus +MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0024477 NCIT:C7927 NCIT:C7106 liver and intrahepatic bile duct neoplasm +MONDO:0018689 plasma cell leukemia MONDO:0005059 NCIT:C3180 NCIT:C3161 leukemia +MONDO:0018744 oligodendroglial tumor MONDO:0021042 NCIT:C6960 NCIT:C3059 glioma +MONDO:0018935 hairy cell leukemia MONDO:0001014 NCIT:C7402 NCIT:C3483 chronic leukemia +MONDO:0018935 hairy cell leukemia MONDO:0004949 NCIT:C7402 NCIT:C27910 neoplasm of mature B-cells +MONDO:0018935 hairy cell leukemia MONDO:0005402 NCIT:C7402 NCIT:C7539 lymphoid leukemia +MONDO:0019060 bone neoplasm MONDO:0003900 NCIT:C9343 NCIT:C26729 connective tissue disorder +MONDO:0019087 cholangiocarcinoma MONDO:0003193 NCIT:C4436 NCIT:C27813 bile duct adenocarcinoma +MONDO:0019460 acute leukemia of ambiguous lineage MONDO:0010643 NCIT:C7464 NCIT:C9300 acute leukemia +MONDO:0019464 heavy chain disease MONDO:0004949 NCIT:C3082 NCIT:C27910 neoplasm of mature B-cells +MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0005169 NCIT:C4752 NCIT:C27909 neoplasm of mature T-cells or NK-cells +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0005169 NCIT:C4664 NCIT:C27909 neoplasm of mature T-cells or NK-cells +MONDO:0019470 aggressive NK-cell leukemia MONDO:0005169 NCIT:C8647 NCIT:C27909 neoplasm of mature T-cells or NK-cells +MONDO:0019470 aggressive NK-cell leukemia MONDO:0005402 NCIT:C8647 NCIT:C7539 lymphoid leukemia +MONDO:0019480 Langerhans cell sarcoma MONDO:0005089 NCIT:C6921 NCIT:C9118 sarcoma +MONDO:0019613 non-functioning pituitary adenoma MONDO:0021119 NCIT:C4348 NCIT:C94760 non-functioning endocrine neoplasm +MONDO:0019960 VIPoma MONDO:0000386 NCIT:C26749 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 +MONDO:0020179 palpebral nevus MONDO:0021605 NCIT:C3880 NCIT:C4354 benign eyelid neoplasm +MONDO:0020513 spermatocytic seminoma MONDO:0003510 NCIT:C39921 NCIT:C9063 malignant testicular germ cell tumor +MONDO:0020520 adult pulmonary Langerhans cell histiocytosis MONDO:0021117 NCIT:C142833 NCIT:C3200 lung neoplasm +MONDO:0020549 invasive hydatidiform mole MONDO:0021218 NCIT:C6985 NCIT:C4858 placenta neoplasm +MONDO:0020574 central nervous system nongerminomatous germ cell tumor MONDO:0021656 NCIT:C100093 NCIT:C121619 nongerminomatous germ cell tumor +MONDO:0020582 benign uterine ligament neoplasm MONDO:0000624 NCIT:C126493 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0020703 erythroid neoplasm MONDO:0005170 NCIT:C7064 NCIT:C9290 myeloid neoplasm +MONDO:0020703 erythroid neoplasm MONDO:0021138 NCIT:C7064 NCIT:C35501 bone marrow cancer +MONDO:0020809 benign sertoli cell tumor MONDO:0000383 NCIT:C67012 NCIT:C7617 benign reproductive system neoplasm +MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0003036 NCIT:C5908 NCIT:C3772 mucoepidermoid carcinoma +MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0004211 NCIT:C27445 NCIT:C27448 L-cell glucagon-like peptide-producing neuroendocrine tumor +MONDO:0021115 luminal B breast carcinoma MONDO:0006116 NCIT:C53555 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0021116 luminal A breast carcinoma MONDO:0006116 NCIT:C53554 NCIT:C53553 breast carcinoma by gene expression profile +MONDO:0021138 bone marrow cancer MONDO:0004992 NCIT:C35501 NCIT:C9305 cancer +MONDO:0021218 placenta neoplasm MONDO:0021148 NCIT:C4858 NCIT:C3053 female reproductive system neoplasm +MONDO:0021229 ciliary body neoplasm MONDO:0021225 NCIT:C4364 NCIT:C3436 uvea neoplasm +MONDO:0021275 papilloma of eyelid MONDO:0002363 NCIT:C4061 NCIT:C7440 papilloma +MONDO:0021281 cavernous hemangioma of retina MONDO:0003155 NCIT:C4921 NCIT:C3086 cavernous hemangioma +MONDO:0021281 cavernous hemangioma of retina MONDO:0021453 NCIT:C4921 NCIT:C3624 benign neoplasm of retina +MONDO:0021301 adenoma of nipple MONDO:0004972 NCIT:C4192 NCIT:C2855 adenoma +MONDO:0021301 adenoma of nipple MONDO:0036976 NCIT:C4192 NCIT:C4092 benign epithelial neoplasm +MONDO:0021333 carcinoma of lip MONDO:0023644 NCIT:C3490 NCIT:C9315 lip and oral cavity carcinoma +MONDO:0021427 squamous cell carcinoma of lip MONDO:0044710 NCIT:C4042 NCIT:C42690 lip and oral cavity squamous cell carcinoma +MONDO:0021440 benign neoplasm of skin MONDO:0005165 NCIT:C2896 NCIT:C3677 benign neoplasm +MONDO:0021443 benign neoplasm of lymph node MONDO:0005165 NCIT:C3636 NCIT:C3677 benign neoplasm +MONDO:0021454 benign neoplasm of eye MONDO:0005165 NCIT:C4780 NCIT:C3677 benign neoplasm +MONDO:0021465 benign neoplasm of appendix MONDO:0000385 NCIT:C4773 NCIT:C4787 benign digestive system neoplasm +MONDO:0021469 benign neoplasm of anus MONDO:0000385 NCIT:C4611 NCIT:C4787 benign digestive system neoplasm +MONDO:0021498 benign neoplasm of placenta MONDO:0000624 NCIT:C8545 NCIT:C4934 benign female reproductive system neoplasm +MONDO:0021500 benign neoplasm of spleen MONDO:0005165 NCIT:C4902 NCIT:C3677 benign neoplasm +MONDO:0021629 uterine ligament neoplasm MONDO:0021148 NCIT:C40133 NCIT:C3053 female reproductive system neoplasm +MONDO:0021662 bile duct neoplasm MONDO:0002514 NCIT:C2898 NCIT:C8614 hepatobiliary neoplasm +MONDO:0023597 laryngeal papillomatosis MONDO:0021071 NCIT:C157733 NCIT:C3156 laryngeal neoplasm +MONDO:0024501 appendix neuroendocrine neoplasm MONDO:0024503 NCIT:C60709 NCIT:C27721 digestive system neuroendocrine neoplasm +MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0019954 NCIT:C4446 NCIT:C27720 pancreatic neuroendocrine tumor +MONDO:0024611 orbit neoplasm MONDO:0005586 NCIT:C3290 NCIT:C3077 head and neck neoplasm +MONDO:0024622 thyroid gland adenocarcinoma MONDO:0021069 NCIT:C27380 NCIT:C3575 malignant endocrine neoplasm +MONDO:0024649 optic tract astrocytoma MONDO:0019781 NCIT:C7533 NCIT:C60781 astrocytoma (excluding glioblastoma) +MONDO:0024663 primary skin meningioma MONDO:0002300 NCIT:C5277 NCIT:C4475 dermis tumor +MONDO:0024863 small size posterior uveal melanoma MONDO:0006486 NCIT:C9089 NCIT:C7712 uveal melanoma +MONDO:0024864 medium/large size posterior uveal melanoma MONDO:0006486 NCIT:C9090 NCIT:C7712 uveal melanoma +MONDO:0024868 metastatic carcinoma in the adrenal medulla MONDO:0003606 NCIT:C9276 NCIT:C4396 adrenal medulla cancer +MONDO:0040676 great vessel cancer MONDO:0002100 NCIT:C4575 NCIT:C114940 cardiovascular cancer +MONDO:0042487 uterine cervix carcinoma in situ MONDO:0004647 NCIT:C4000 NCIT:C2917 in situ carcinoma +MONDO:0044740 salivary gland squamous cell carcinoma MONDO:0010150 NCIT:C7991 NCIT:C34447 head and neck squamous cell carcinoma +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0004970 NCIT:C3828 NCIT:C2852 adenocarcinoma +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0018531 NCIT:C3828 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract +MONDO:0044794 benign melanocytic skin nevus MONDO:0021440 NCIT:C7571 NCIT:C2896 benign neoplasm of skin +MONDO:0044794 benign melanocytic skin nevus MONDO:0021583 NCIT:C7571 NCIT:C7161 melanocytic skin neoplasm +MONDO:0044881 hematopoietic and lymphoid cell neoplasm MONDO:0005570 NCIT:C27134 NCIT:C26323 hematologic disorder +MONDO:0044887 central nervous system non-hodgkin lymphoma MONDO:0018908 NCIT:C114779 NCIT:C3211 non-Hodgkin lymphoma +MONDO:0045068 minor salivary gland adenoid cystic carcinoma MONDO:0045069 NCIT:C5936 NCIT:C5957 minor salivary gland carcinoma +MONDO:0056805 benign peripheral nerve granular cell tumor MONDO:0001406 NCIT:C5502 NCIT:C3321 peripheral nervous system neoplasm +MONDO:0056815 liver adenosquamous carcinoma MONDO:0018531 NCIT:C118630 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract +MONDO:0056817 rectal adenosquamous carcinoma MONDO:0044937 NCIT:C43594 NCIT:C9382 rectal carcinoma +MONDO:0056818 skin adenosquamous carcinoma MONDO:0002656 NCIT:C54250 NCIT:C4914 skin carcinoma +MONDO:0200000 uterine ligament adenosarcoma MONDO:0005636 NCIT:C102570 NCIT:C9474 adenosarcoma +MONDO:0700140 canine osteosarcoma MONDO:0700139 NCIT:C120045 NCIT:C134526 canine neoplasm +MONDO:0700142 canine hemangiosarcoma MONDO:0700139 NCIT:C122783 NCIT:C134526 canine neoplasm +MONDO:0700143 canine mammary carcinoma MONDO:0700139 NCIT:C124249 NCIT:C134526 canine neoplasm +MONDO:0700146 canine prostate carcinoma MONDO:0700139 NCIT:C128122 NCIT:C134526 canine neoplasm +MONDO:0700148 canine transitional cell carcinoma MONDO:0700139 NCIT:C128126 NCIT:C134526 canine neoplasm +MONDO:0700149 canine sarcoma MONDO:0700139 NCIT:C128195 NCIT:C134526 canine neoplasm +MONDO:0700150 canine mastocytoma MONDO:0700139 NCIT:C129077 NCIT:C134526 canine neoplasm +MONDO:0700152 canine hepatocellular carcinoma MONDO:0700139 NCIT:C129298 NCIT:C134526 canine neoplasm +MONDO:0700153 canine lung adenocarcinoma MONDO:0700139 NCIT:C129299 NCIT:C134526 canine neoplasm +MONDO:0700154 canine rhabdomyosarcoma MONDO:0700139 NCIT:C129300 NCIT:C134526 canine neoplasm +MONDO:0700155 canine thyroid adenocarcinoma MONDO:0700139 NCIT:C132275 NCIT:C134526 canine neoplasm +MONDO:0700156 canine soft tissue sarcoma MONDO:0700139 NCIT:C132276 NCIT:C134526 canine neoplasm +MONDO:0700157 canine oral squamous cell carcinoma MONDO:0700139 NCIT:C132823 NCIT:C134526 canine neoplasm +MONDO:0700158 canine pancreatic carcinoma MONDO:0700139 NCIT:C134944 NCIT:C134526 canine neoplasm +MONDO:0700162 canine granular cell tumor MONDO:0700139 NCIT:C158784 NCIT:C134526 canine neoplasm +MONDO:0700165 canine thyroid gland medullary carcinoma MONDO:0700139 NCIT:C161006 NCIT:C134526 canine neoplasm +MONDO:0700190 chicken bursal lymphoma MONDO:0700189 NCIT:C134556 NCIT:C135005 chicken neoplasm +MONDO:0700195 rous sarcoma MONDO:0700189 NCIT:C17466 NCIT:C135005 chicken neoplasm +MONDO:0000909 Bartter disease type 4B MONDO:0015231 OMIM:613090 OMIMPS:601678 Bartter syndrome +MONDO:0007092 amelogenesis imperfecta type 1B MONDO:0019507 OMIM:104500 OMIMPS:104500 amelogenesis imperfecta +MONDO:0007094 amelogenesis imperfecta type 1A MONDO:0019507 OMIM:104530 OMIMPS:104500 amelogenesis imperfecta +MONDO:0007135 nonsyndromic congenital nail disorder 6 MONDO:0019284 OMIM:107000 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0007157 arthrogryposis, distal, type 1A MONDO:0019942 OMIM:108120 OMIMPS:108120 distal arthrogryposis +MONDO:0007164 spastic ataxia 1 MONDO:0017845 OMIM:108600 OMIMPS:108600 spastic ataxia +MONDO:0007165 spastic ataxia 7 MONDO:0017845 OMIM:108650 OMIMPS:108600 spastic ataxia +MONDO:0007182 Machado-Joseph disease MONDO:0020380 OMIM:109150 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007278 cataract 32 multiple types MONDO:0005129 OMIM:115650 OMIMPS:116200 cataract +MONDO:0007279 cataract 7 MONDO:0005129 OMIM:115660 OMIMPS:116200 cataract +MONDO:0007280 cataract 8 multiple types MONDO:0005129 OMIM:115665 OMIMPS:116200 cataract +MONDO:0007283 cataract 42 MONDO:0005129 OMIM:115900 OMIMPS:116200 cataract +MONDO:0007284 cataract 20 multiple types MONDO:0005129 OMIM:116100 OMIMPS:116200 cataract +MONDO:0007286 cataract 30 MONDO:0005129 OMIM:116300 OMIMPS:116200 cataract +MONDO:0007287 cataract 41 MONDO:0005129 OMIM:116400 OMIMPS:116200 cataract +MONDO:0007288 cataract 6 multiple types MONDO:0005129 OMIM:116600 OMIMPS:116200 cataract +MONDO:0007289 cataract 13 with adult I phenotype MONDO:0005129 OMIM:116700 OMIMPS:116200 cataract +MONDO:0007290 cataract 5 multiple types MONDO:0005129 OMIM:116800 OMIMPS:116200 cataract +MONDO:0007294 central core myopathy MONDO:0019952 OMIM:117000 OMIMPS:117000 congenital myopathy +MONDO:0007296 spinocerebellar ataxia type 31 MONDO:0020380 OMIM:117210 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007298 spinocerebellar ataxia type 29 MONDO:0020380 OMIM:117360 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0015626 OMIM:118200 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 MONDO:0015626 OMIM:118210 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007309 Charcot-Marie-Tooth disease type 1A MONDO:0015626 OMIM:118220 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0015626 OMIM:118300 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0007399 TWIST1-related craniosynostosis MONDO:0015469 OMIM:123100 OMIMPS:123100 craniosynostosis +MONDO:0007411 cutis laxa, autosomal dominant 1 MONDO:0100237 OMIM:123700 OMIMPS:123700 inherited cutis laxa +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0044807 OMIM:128100 OMIMPS:128100 inherited dystonia +MONDO:0007493 torsion dystonia 4 MONDO:0044807 OMIM:128101 OMIMPS:128100 inherited dystonia +MONDO:0007495 dystonia 5 MONDO:0044807 OMIM:128230 OMIMPS:128100 inherited dystonia +MONDO:0007496 dystonia 12 MONDO:0044807 OMIM:128235 OMIMPS:128100 inherited dystonia +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:0019287 OMIM:129490 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0020066 OMIM:130050 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0007538 amelogenesis imperfecta, type 3A MONDO:0019507 OMIM:130900 OMIMPS:104500 amelogenesis imperfecta +MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0020380 OMIM:133190 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 OMIM:133780 OMIMPS:133780 exudative vitreoretinopathy +MONDO:0007662 anterior segment dysgenesis 4 MONDO:0019503 OMIM:137600 OMIMPS:107250 anterior segment dysgenesis +MONDO:0007767 hyperparathyroidism 1 MONDO:0016166 OMIM:145000 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0016166 OMIM:145001 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia MONDO:0018555 OMIM:146110 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia MONDO:0018555 OMIM:147950 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0007933 vitelliform macular dystrophy 1 MONDO:0000390 OMIM:153840 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0007937 renal hypomagnesemia 2 MONDO:0018100 OMIM:154020 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0008002 mirror movements 1 MONDO:0016558 OMIM:157600 OMIMPS:157600 familial congenital mirror movements +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A MONDO:0015362 OMIM:158580 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A MONDO:0015362 OMIM:158590 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0008044 myoclonic dystonia 11 MONDO:0044807 OMIM:159900 OMIMPS:128100 inherited dystonia +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0018958 OMIM:161800 OMIMPS:161800 nemaline myopathy +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0019952 OMIM:161800 OMIMPS:117000 congenital myopathy +MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0017169 OMIM:162300 OMIMPS:131100 multiple endocrine neoplasia +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0016295 OMIM:162350 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A MONDO:0015364 OMIM:162400 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0020380 OMIM:164400 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0008133 optic atrophy 3 MONDO:0043878 OMIM:165300 OMIMPS:165500 hereditary optic atrophy +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0043878 OMIM:165500 OMIMPS:165500 hereditary optic atrophy +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 OMIM:166200 OMIMPS:166200 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 OMIM:166210 OMIMPS:166200 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 OMIM:166220 OMIMPS:166200 osteogenesis imperfecta +MONDO:0008200 autosomal dominant Parkinson disease 1 MONDO:0005180 OMIM:168601 OMIMPS:168600 Parkinson disease +MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0017169 OMIM:171400 OMIMPS:131100 multiple endocrine neoplasia +MONDO:0008263 polycystic kidney disease 1 MONDO:0020642 OMIM:173900 OMIMPS:173900 polycystic kidney disease +MONDO:0008266 polydactyly, postaxial, type A1 MONDO:0020927 OMIM:174200 OMIMPS:174200 postaxial polydactyly +MONDO:0008290 porokeratosis 1, Mibelli type MONDO:0006602 OMIM:175800 OMIMPS:175800 porokeratosis +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type MONDO:0006602 OMIM:175900 OMIMPS:175800 porokeratosis +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant MONDO:0100240 OMIM:176860 OMIMPS:188050 inherited thrombophilia +MONDO:0008319 protoporphyria, erythropoietic, 1 MONDO:0001676 OMIM:177000 OMIMPS:177000 erythropoietic protoporphyria +MONDO:0008457 spinocerebellar ataxia type 6 MONDO:0020380 OMIM:183086 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0020380 OMIM:183090 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0008566 thyroid cancer, nonmedullary, 2 MONDO:0017896 OMIM:188470 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0008671 Waardenburg syndrome type 2A MONDO:0018094 OMIM:193510 OMIMPS:193500 Waardenburg syndrome +MONDO:0008736 peroxisome biogenesis disorder 2B MONDO:0019234 OMIM:202370 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0008745 oculocutaneous albinism type 1A MONDO:0018910 OMIM:203100 OMIMPS:203100 oculocutaneous albinism +MONDO:0008748 Hermansky-Pudlak syndrome 1 MONDO:0019312 OMIM:203300 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0018158 OMIM:203700 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0016295 OMIM:204200 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:0016295 OMIM:204300 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0016295 OMIM:204500 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0008770 amelogenesis imperfecta type 1C MONDO:0019507 OMIM:204650 OMIMPS:104500 amelogenesis imperfecta +MONDO:0008772 amelogenesis imperfecta type 2A1 MONDO:0019507 OMIM:204700 OMIMPS:104500 amelogenesis imperfecta +MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile MONDO:0005144 OMIM:205100 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia MONDO:0005144 OMIM:205200 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0008785 sideroblastic anemia 2 MONDO:0020099 OMIM:205950 OMIMPS:300751 inherited sideroblastic anemia +MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO:0019284 OMIM:206800 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 MONDO:0004822 OMIM:211400 OMIMPS:211400 bronchiectasis +MONDO:0008925 cataract 46 juvenile-onset MONDO:0005129 OMIM:212500 OMIMPS:116200 cataract +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0015244 OMIM:213200 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) MONDO:0019234 OMIM:214100 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) MONDO:0019234 OMIM:214110 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0015626 OMIM:214400 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0000824 OMIM:214700 OMIMPS:214700 congenital diarrhea +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:0019234 OMIM:215100 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0009052 cutis laxa, autosomal recessive, type 1A MONDO:0100237 OMIM:219100 OMIMPS:123700 inherited cutis laxa +MONDO:0009135 anemia, congenital dyserythropoietic, type 1a MONDO:0019403 OMIM:224120 OMIMPS:224120 congenital dyserythropoietic anemia +MONDO:0009141 torsion dystonia 2 MONDO:0044807 OMIM:224500 OMIMPS:128100 inherited dystonia +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0019287 OMIM:224900 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0009273 hydatidiform mole, recurrent, 1 MONDO:0006248 OMIM:231090 OMIMPS:231090 hydatidiform mole +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:0002412 OMIM:232200 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009288 glycogen storage disease Ib MONDO:0002412 OMIM:232220 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009288 glycogen storage disease Ib MONDO:0002412 OMIM:232240 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0016166 OMIM:239200 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 MONDO:0000044 OMIM:241520 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0009439 autosomal recessive congenital ichthyosis 2 MONDO:0017265 OMIM:242100 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0017265 OMIM:242500 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia MONDO:0018555 OMIM:244200 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0018158 OMIM:245400 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0018838 OMIM:247200 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:0018100 OMIM:248190 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0009550 renal hypomagnesemia 3 MONDO:0018100 OMIM:248250 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0009635 microvillus inclusion disease MONDO:0000824 OMIM:251850 OMIMPS:214700 congenital diarrhea +MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0018158 OMIM:251880 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0019249 OMIM:252900 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0019249 OMIM:252920 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009657 mucopolysaccharidosis type 3C MONDO:0019249 OMIM:252930 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009659 mucopolysaccharidosis type 4A MONDO:0019249 OMIM:253000 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009660 mucopolysaccharidosis type 4B MONDO:0019249 OMIM:253010 OMIMPS:607014 mucopolysaccharidosis +MONDO:0009690 congenital myasthenic syndrome 10 MONDO:0018940 OMIM:254300 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0009709 myopathy, centronuclear, 2 MONDO:0018947 OMIM:255200 OMIMPS:160150 centronuclear myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:0019952 OMIM:255320 OMIMPS:117000 congenital myopathy +MONDO:0009725 nemaline myopathy 2 MONDO:0018958 OMIM:256030 OMIMPS:161800 nemaline myopathy +MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0018158 OMIM:256810 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0009760 Norman-Roberts syndrome MONDO:0018838 OMIM:257320 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0019287 OMIM:257980 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0009775 Oguchi disease-1 MONDO:0016293 OMIM:258100 OMIMPS:310500 congenital stationary night blindness +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 OMIM:259420 OMIMPS:166200 osteogenesis imperfecta +MONDO:0009805 osteogenesis imperfecta type 9 MONDO:0019019 OMIM:259440 OMIMPS:166200 osteogenesis imperfecta +MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO:0019046 OMIM:260600 OMIMPS:312080 leukodystrophy +MONDO:0009878 pituitary hormone deficiency, combined, 2 MONDO:0013099 OMIM:262600 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form +MONDO:0009893 polydactyly, postaxial, type A5 MONDO:0020927 OMIM:263450 OMIMPS:174200 postaxial polydactyly +MONDO:0009959 peroxisome biogenesis disorder type 3B MONDO:0019234 OMIM:266510 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0015827 OMIM:267300 OMIMPS:179800 distal renal tubular acidosis +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0021094 OMIM:269840 OMIMPS:300755 immunodeficiency disease +MONDO:0010036 congenital secretory sodium diarrhea 3 MONDO:0000824 OMIM:270420 OMIMPS:214700 congenital diarrhea +MONDO:0010041 Charlevoix-Saguenay spastic ataxia MONDO:0017845 OMIM:270550 OMIMPS:108600 spastic ataxia +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0019064 OMIM:270685 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0019064 OMIM:270700 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0019064 OMIM:270750 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0018158 OMIM:271245 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0015244 OMIM:271250 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0010156 Troyer syndrome MONDO:0019064 OMIM:275900 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010169 Usher syndrome type 2A MONDO:0019501 OMIM:276901 OMIMPS:276900 Usher syndrome +MONDO:0010170 Usher syndrome type 3A MONDO:0019501 OMIM:276902 OMIMPS:276900 Usher syndrome +MONDO:0010171 Usher syndrome type 1C MONDO:0019501 OMIM:276904 OMIMPS:276900 Usher syndrome +MONDO:0010190 pontocerebellar hypoplasia type 2A MONDO:0020135 OMIM:277470 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0010192 Waardenburg syndrome type 4A MONDO:0018094 OMIM:277580 OMIMPS:193500 Waardenburg syndrome +MONDO:0010228 hearing loss, X-linked 3 MONDO:0020768 OMIM:300030 OMIMPS:304500 X-linked deafness +MONDO:0010238 hearing loss, X-linked 4 MONDO:0020768 OMIM:300066 OMIMPS:304500 X-linked deafness +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0018838 OMIM:300067 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0010241 congenital stationary night blindness 2A MONDO:0016293 OMIM:300071 OMIMPS:310500 congenital stationary night blindness +MONDO:0010245 X-linked cone-rod dystrophy 2 MONDO:0015993 OMIM:300085 OMIMPS:120970 cone-rod dystrophy +MONDO:0010296 immunodeficiency 61 MONDO:0021094 OMIM:300310 OMIMPS:300755 immunodeficiency disease +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0021094 OMIM:300400 OMIMPS:300755 immunodeficiency disease +MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO:0020119 OMIM:300423 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0010335 X-linked cone-rod dystrophy 3 MONDO:0015993 OMIM:300476 OMIMPS:120970 cone-rod dystrophy +MONDO:0010349 ovarian dysgenesis 2 MONDO:0019852 OMIM:300510 OMIMPS:311360 inherited primary ovarian failure +MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO:0000044 OMIM:300554 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0010360 parkinson disease 12 MONDO:0005180 OMIM:300557 OMIMPS:168600 Parkinson disease +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0020768 OMIM:300614 OMIMPS:304500 X-linked deafness +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0016537 OMIM:300635 OMIMPS:308240 lymphoproliferative syndrome +MONDO:0010386 immunodeficiency 33 MONDO:0021094 OMIM:300636 OMIMPS:300755 immunodeficiency disease +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0016830 OMIM:300696 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0019064 OMIM:300750 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0015977 OMIM:300755 OMIMPS:601495 agammaglobulinemia +MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0021094 OMIM:300755 OMIMPS:300755 immunodeficiency disease +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:0015626 OMIM:300905 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010484 hearing loss, X-linked 6 MONDO:0020768 OMIM:300914 OMIMPS:304500 X-linked deafness +MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0021094 OMIM:300988 OMIMPS:300755 immunodeficiency disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0021094 OMIM:301000 OMIMPS:300755 immunodeficiency disease +MONDO:0010521 amelogenesis imperfecta type 1E MONDO:0019507 OMIM:301200 OMIMPS:104500 amelogenesis imperfecta +MONDO:0010544 cataract 40 MONDO:0005129 OMIM:302200 OMIMPS:116200 cataract +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0015626 OMIM:302800 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0015626 OMIM:302801 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0015626 OMIM:302802 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010559 MASA syndrome MONDO:0019064 OMIM:303350 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0010563 blue cone monochromacy MONDO:0015993 OMIM:303700 OMIMPS:120970 cone-rod dystrophy +MONDO:0010566 X-linked cone-rod dystrophy 1 MONDO:0015993 OMIM:304020 OMIMPS:120970 cone-rod dystrophy +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher MONDO:0020768 OMIM:304400 OMIMPS:304500 X-linked deafness +MONDO:0010577 hearing loss, X-linked 1 MONDO:0020768 OMIM:304500 OMIMPS:304500 X-linked deafness +MONDO:0010584 dyskeratosis congenita, X-linked MONDO:0015780 OMIM:305000 OMIMPS:127550 dyskeratosis congenita +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO:0019287 OMIM:305100 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0010598 glycogen storage disease IXa1 MONDO:0002412 OMIM:306000 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0000044 OMIM:307800 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0010626 hyper-IgM syndrome type 1 MONDO:0021094 OMIM:308230 OMIMPS:300755 immunodeficiency disease +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO:0018555 OMIM:308700 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:0020119 OMIM:309520 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0015626 OMIM:310490 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010690 congenital stationary night blindness 1A MONDO:0016293 OMIM:310500 OMIMPS:310500 congenital stationary night blindness +MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0015626 OMIM:311070 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010730 combined immunodeficiency, X-linked MONDO:0021094 OMIM:312863 OMIMPS:300755 immunodeficiency disease +MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0044807 OMIM:314250 OMIMPS:128100 inherited dystonia +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 MONDO:0005180 OMIM:600116 OMIMPS:168600 Parkinson disease +MONDO:0010829 CARASIL syndrome MONDO:0007432 OMIM:600142 OMIMPS:125310 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0016295 OMIM:600143 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0010841 Waardenburg syndrome type 2B MONDO:0018094 OMIM:600193 OMIMPS:193500 Waardenburg syndrome +MONDO:0010844 epiphyseal dysplasia, multiple, 2 MONDO:0016648 OMIM:600204 OMIMPS:132400 multiple epiphyseal dysplasia +MONDO:0010847 spinocerebellar ataxia type 4 MONDO:0020380 OMIM:600223 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0010848 spinocerebellar ataxia type 5 MONDO:0020380 OMIM:600224 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0010906 orofacial cleft 11 MONDO:0000358 OMIM:600625 OMIMPS:119530 orofacial cleft +MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease MONDO:0020642 OMIM:600666 OMIMPS:173900 polycystic kidney disease +MONDO:0010927 orofacial cleft 3 MONDO:0000358 OMIM:600757 OMIMPS:119530 orofacial cleft +MONDO:0010929 craniosynostosis 4 MONDO:0015469 OMIM:600775 OMIMPS:123100 craniosynostosis +MONDO:0010948 cataract 10 multiple types MONDO:0005129 OMIM:600881 OMIMPS:116200 cataract +MONDO:0010949 Charcot-Marie-Tooth disease type 2B MONDO:0015626 OMIM:600882 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0010964 epiphyseal dysplasia, multiple, 3 MONDO:0016648 OMIM:600969 OMIMPS:132400 multiple epiphyseal dysplasia +MONDO:0010974 nephrotic syndrome, type 2 MONDO:0002350 OMIM:600995 OMIMPS:256300 familial nephrotic syndrome +MONDO:0010983 dystonia 9 MONDO:0044807 OMIM:601042 OMIMPS:128100 inherited dystonia +MONDO:0010984 Usher syndrome type 1D MONDO:0019501 OMIM:601067 OMIMPS:276900 Usher syndrome +MONDO:0010995 Charcot-Marie-Tooth disease type 1C MONDO:0015626 OMIM:601098 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0019064 OMIM:601162 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011015 cataract 24 MONDO:0005129 OMIM:601202 OMIMPS:116200 cataract +MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 MONDO:0015626 OMIM:601382 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011085 Charcot-Marie-Tooth disease type 4D MONDO:0015626 OMIM:601455 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011088 congenital myasthenic syndrome 1A MONDO:0018940 OMIM:601462 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0011091 Charcot-Marie-Tooth disease type 2D MONDO:0015626 OMIM:601472 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011101 peroxisome biogenesis disorder 1B MONDO:0019234 OMIM:601539 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0011113 Charcot-Marie-Tooth disease type 4C MONDO:0015626 OMIM:601596 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011125 trichothiodystrophy 1, photosensitive MONDO:0018053 OMIM:601675 OMIMPS:601675 trichothiodystrophy +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0016295 OMIM:601780 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0011151 exudative vitreoretinopathy 4 MONDO:0019516 OMIM:601813 OMIMPS:133780 exudative vitreoretinopathy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 MONDO:0005803 OMIM:601820 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0011162 cataract 14 multiple types MONDO:0005129 OMIM:601885 OMIMPS:116200 cataract +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0018100 OMIM:602014 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0011177 ectodermal dysplasia 4, hair/nail type MONDO:0019287 OMIM:602032 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0011186 Usher syndrome type 1F MONDO:0019501 OMIM:602083 OMIMPS:276900 Usher syndrome +MONDO:0011187 polydactyly, postaxial, type A2 MONDO:0020927 OMIM:602085 OMIMPS:174200 postaxial polydactyly +MONDO:0011195 Usher syndrome type 1E MONDO:0019501 OMIM:602097 OMIMPS:276900 Usher syndrome +MONDO:0011196 amyotrophic lateral sclerosis type 5 MONDO:0005144 OMIM:602099 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0011216 hemochromatosis type 2A MONDO:0006507 OMIM:602390 OMIMPS:235200 hereditary hemochromatosis +MONDO:0011220 parkinson disease 3, autosomal dominant MONDO:0005180 OMIM:602404 OMIMPS:168600 Parkinson disease +MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0005803 OMIM:602485 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0011242 Bartter disease type 4A MONDO:0015231 OMIM:602522 OMIMPS:601678 Bartter syndrome +MONDO:0011264 torsion dystonia 6 MONDO:0044807 OMIM:602629 OMIMPS:128100 inherited dystonia +MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0015827 OMIM:602722 OMIMPS:179800 distal renal tubular acidosis +MONDO:0011271 rigid spine muscular dystrophy 1 MONDO:0019952 OMIM:602771 OMIMPS:117000 congenital myopathy +MONDO:0011326 citrullinemia, type II, adult-onset MONDO:0015991 OMIM:603471 OMIMPS:215700 citrullinemia +MONDO:0011330 spinocerebellar ataxia type 10 MONDO:0020380 OMIM:603516 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0019064 OMIM:603563 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011439 spinocerebellar ataxia type 12 MONDO:0020380 OMIM:604326 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0019064 OMIM:604360 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011464 spinocerebellar ataxia type 11 MONDO:0020380 OMIM:604432 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011466 distal myopathy, Welander type MONDO:0018949 OMIM:604454 OMIMPS:160500 distal myopathy +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 MONDO:0015626 OMIM:604563 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011481 craniosynostosis 2 MONDO:0015469 OMIM:604757 OMIMPS:123100 craniosynostosis +MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0019064 OMIM:604805 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0015626 OMIM:605253 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0020380 OMIM:605259 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0015626 OMIM:605285 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0020380 OMIM:605361 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011547 cataract 31 multiple types MONDO:0005129 OMIM:605387 OMIMPS:116200 cataract +MONDO:0011558 Usher syndrome type 2C MONDO:0019501 OMIM:605472 OMIMPS:276900 Usher syndrome +MONDO:0011562 autosomal dominant Parkinson disease 4 MONDO:0005180 OMIM:605543 OMIMPS:168600 Parkinson disease +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0015626 OMIM:605588 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 MONDO:0015626 OMIM:605589 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011587 cataract 25 MONDO:0005129 OMIM:605728 OMIMPS:116200 cataract +MONDO:0011591 cataract 26 multiple types MONDO:0005129 OMIM:605749 OMIMPS:116200 cataract +MONDO:0011600 congenital myasthenic syndrome 4A MONDO:0018940 OMIM:605809 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0015991 OMIM:605814 OMIMPS:215700 citrullinemia +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 MONDO:0005180 OMIM:605909 OMIMPS:168600 Parkinson disease +MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0015626 OMIM:606071 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011653 thyroid cancer, nonmedullary, 3 MONDO:0017896 OMIM:606240 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 MONDO:0005180 OMIM:606324 OMIMPS:168600 Parkinson disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0015626 OMIM:606482 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0015626 OMIM:606483 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011680 autosomal recessive congenital ichthyosis 3 MONDO:0017265 OMIM:606545 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F MONDO:0015626 OMIM:606595 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011694 spinocerebellar ataxia type 15/16 MONDO:0020380 OMIM:606658 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011697 Waardenburg syndrome type 2C MONDO:0018094 OMIM:606662 OMIMPS:193500 Waardenburg syndrome +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0005180 OMIM:606693 OMIMPS:168600 Parkinson disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0005803 OMIM:606762 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:0002408 OMIM:606785 OMIMPS:237450 hereditary hyperbilirubinemia +MONDO:0011737 parkinson disease 10 MONDO:0005180 OMIM:606852 OMIMPS:168600 Parkinson disease +MONDO:0011748 Usher syndrome type 1G MONDO:0019501 OMIM:606943 OMIMPS:276900 Usher syndrome +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018910 OMIM:606952 OMIMPS:203100 oculocutaneous albinism +MONDO:0011758 Hurler syndrome MONDO:0019249 OMIM:607014 OMIMPS:607014 mucopolysaccharidosis +MONDO:0011759 Hurler-Scheie syndrome MONDO:0019249 OMIM:607015 OMIMPS:607014 mucopolysaccharidosis +MONDO:0011760 Scheie syndrome MONDO:0019249 OMIM:607016 OMIMPS:607014 mucopolysaccharidosis +MONDO:0011764 autosomal dominant Parkinson disease 8 MONDO:0005180 OMIM:607060 OMIMPS:168600 Parkinson disease +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0020380 OMIM:607136 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0019064 OMIM:607152 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011808 cataract 27 MONDO:0005129 OMIM:607304 OMIMPS:116200 cataract +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0015244 OMIM:607317 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0011813 polydactyly, postaxial, type A3 MONDO:0020927 OMIM:607324 OMIMPS:174200 postaxial polydactyly +MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0020380 OMIM:607346 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011830 lissencephaly due to LIS1 mutation MONDO:0018838 OMIM:607432 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0020380 OMIM:607454 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011834 spinocerebellar ataxia type 18 MONDO:0020380 OMIM:607458 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0011844 myoclonic dystonia 15 MONDO:0044807 OMIM:607488 OMIMPS:128100 inherited dystonia +MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0019064 OMIM:607584 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0011866 pontocerebellar hypoplasia type 1A MONDO:0020135 OMIM:607596 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B MONDO:0015362 OMIM:607641 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0011886 torsion dystonia 13 MONDO:0044807 OMIM:607671 OMIMPS:128100 inherited dystonia +MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0015626 OMIM:607677 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0015626 OMIM:607678 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0015626 OMIM:607684 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0019046 OMIM:607694 OMIMPS:312080 leukodystrophy +MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive MONDO:0015626 OMIM:607706 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011900 porokeratosis 4, disseminated superficial actinic type MONDO:0006602 OMIM:607728 OMIMPS:175800 porokeratosis +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0015626 OMIM:607731 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0015626 OMIM:607734 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0015626 OMIM:607736 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0015626 OMIM:607791 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K MONDO:0015626 OMIM:607831 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015364 OMIM:608088 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0021094 OMIM:608203 OMIMPS:300755 immunodeficiency disease +MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0019064 OMIM:608220 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0015626 OMIM:608323 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0015626 OMIM:608340 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012029 microcephaly 6, primary, autosomal recessive MONDO:0016660 OMIM:608393 OMIMPS:251200 autosomal recessive primary microcephaly +MONDO:0012059 polydactyly, postaxial, type A4 MONDO:0020927 OMIM:608562 OMIMPS:174200 postaxial polydactyly +MONDO:0012080 neuronopathy, distal hereditary motor, type 2B MONDO:0015362 OMIM:608634 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L MONDO:0015626 OMIM:608673 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive MONDO:0000359 OMIM:608681 OMIMPS:277300 spondylocostal dysostosis +MONDO:0012098 spinocerebellar ataxia type 20 MONDO:0020380 OMIM:608687 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012103 spinocerebellar ataxia type 25 MONDO:0020380 OMIM:608703 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012116 spinocerebellar ataxia type 8 MONDO:0020380 OMIM:608768 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:0019046 OMIM:608804 OMIMPS:312080 leukodystrophy +MONDO:0012142 orofacial cleft 5 MONDO:0000358 OMIM:608874 OMIMPS:119530 orofacial cleft +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel MONDO:0018940 OMIM:608930 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0012157 congenital myasthenic syndrome 4C MONDO:0018940 OMIM:608931 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0012163 immunodeficiency 104 MONDO:0021094 OMIM:608971 OMIMPS:300755 immunodeficiency disease +MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0019064 OMIM:609041 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012188 neuronal ceroid lipofuscinosis 9 MONDO:0016295 OMIM:609055 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0019064 OMIM:609195 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0015626 OMIM:609260 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012237 nemaline myopathy 6 MONDO:0018958 OMIM:609273 OMIMPS:161800 nemaline myopathy +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0000090 OMIM:609283 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0012239 congenital myopathy 4B, autosomal recessive MONDO:0018958 OMIM:609284 OMIMPS:161800 nemaline myopathy +MONDO:0012239 congenital myopathy 4B, autosomal recessive MONDO:0019952 OMIM:609284 OMIMPS:117000 congenital myopathy +MONDO:0012240 congenital myopathy 23 MONDO:0018958 OMIM:609285 OMIMPS:161800 nemaline myopathy +MONDO:0012240 congenital myopathy 23 MONDO:0019952 OMIM:609285 OMIMPS:117000 congenital myopathy +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0000090 OMIM:609286 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0012246 spinocerebellar ataxia type 26 MONDO:0020380 OMIM:609306 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012250 Charcot-Marie-Tooth disease type 4H MONDO:0015626 OMIM:609311 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0019064 OMIM:609340 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012260 cataract 35 MONDO:0005129 OMIM:609376 OMIMPS:116200 cataract +MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular MONDO:0019354 OMIM:609508 OMIMPS:108300 Stickler syndrome +MONDO:0012322 holoprosencephaly 5 MONDO:0016296 OMIM:609637 OMIMPS:236100 holoprosencephaly +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0019064 OMIM:609727 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012336 cataract 22 multiple types MONDO:0005129 OMIM:609741 OMIMPS:116200 cataract +MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive MONDO:0000359 OMIM:609813 OMIMPS:277300 spondylocostal dysostosis +MONDO:0012381 hyperinsulinism due to INSR deficiency MONDO:0005803 OMIM:609968 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0005803 OMIM:609975 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0016295 OMIM:610003 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0012396 exercise-induced hyperinsulinism MONDO:0005803 OMIM:610021 OMIMPS:256450 hyperinsulinemic hypoglycemia +MONDO:0012406 hyperparathyroidism 3 MONDO:0016166 OMIM:610071 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0018949 OMIM:610099 OMIMPS:160500 distal myopathy +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0016295 OMIM:610127 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0000090 OMIM:610131 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0012426 immunodeficiency 25 MONDO:0021094 OMIM:610163 OMIMPS:300755 immunodeficiency disease +MONDO:0012437 cataract 21 multiple types MONDO:0005129 OMIM:610202 OMIMPS:116200 cataract +MONDO:0012444 neurodegeneration with brain iron accumulation 2B MONDO:0018307 OMIM:610217 OMIMPS:234200 neurodegeneration with brain iron accumulation +MONDO:0012449 spinocerebellar ataxia type 23 MONDO:0020380 OMIM:610245 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0020380 OMIM:610246 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0012489 cataract 23 MONDO:0005129 OMIM:610425 OMIMPS:116200 cataract +MONDO:0012518 congenital myasthenic syndrome 12 MONDO:0018940 OMIM:610542 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:0019188 OMIM:610543 OMIMPS:180849 Rubinstein-Taybi syndrome +MONDO:0012527 cataract 11 multiple types MONDO:0005129 OMIM:610623 OMIMPS:116200 cataract +MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia MONDO:0018555 OMIM:610628 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0012536 osteogenesis imperfecta type 7 MONDO:0019019 OMIM:610682 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012538 nemaline myopathy 7 MONDO:0018958 OMIM:610687 OMIMPS:161800 nemaline myopathy +MONDO:0012543 optic atrophy 5 MONDO:0043878 OMIM:610708 OMIMPS:165500 hereditary optic atrophy +MONDO:0012546 nephrotic syndrome, type 3 MONDO:0002350 OMIM:610725 OMIMPS:256300 familial nephrotic syndrome +MONDO:0012548 Kostmann syndrome MONDO:0018542 OMIM:610738 OMIMPS:202700 severe congenital neutropenia +MONDO:0012563 holoprosencephaly 9 MONDO:0016296 OMIM:610829 OMIMPS:236100 holoprosencephaly +MONDO:0012581 osteogenesis imperfecta type 8 MONDO:0019019 OMIM:610915 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 OMIM:610967 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012592 osteogenesis imperfecta type 11 MONDO:0019019 OMIM:610968 OMIMPS:166200 osteogenesis imperfecta +MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0044807 OMIM:611031 OMIMPS:128100 inherited dystonia +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 MONDO:0044807 OMIM:611147 OMIMPS:128100 inherited dystonia +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0019064 OMIM:611225 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012640 Charcot-Marie-Tooth disease type 4J MONDO:0015626 OMIM:611228 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0019064 OMIM:611252 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012650 Cernunnos-XLF deficiency MONDO:0021094 OMIM:611291 OMIMPS:300755 immunodeficiency disease +MONDO:0012662 Usher syndrome type 2D MONDO:0019501 OMIM:611383 OMIMPS:276900 Usher syndrome +MONDO:0012664 spastic ataxia 3 MONDO:0017845 OMIM:611390 OMIMPS:108600 spastic ataxia +MONDO:0012665 cataract 33 MONDO:0005129 OMIM:611391 OMIMPS:116200 cataract +MONDO:0012688 cataract 17 multiple types MONDO:0005129 OMIM:611544 OMIMPS:116200 cataract +MONDO:0012698 Waardenburg syndrome type 2E MONDO:0018094 OMIM:611584 OMIMPS:193500 Waardenburg syndrome +MONDO:0012703 lissencephaly due to TUBA1A mutation MONDO:0018838 OMIM:611603 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0019952 OMIM:611705 OMIMPS:117000 congenital myopathy +MONDO:0012717 renal hypomagnesemia 4 MONDO:0018100 OMIM:611718 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0019064 OMIM:611945 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0019064 OMIM:612020 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012789 dystonia 16 MONDO:0044807 OMIM:612067 OMIMPS:128100 inherited dystonia +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0018158 OMIM:612073 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0018158 OMIM:612075 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0044807 OMIM:612126 OMIMPS:128100 inherited dystonia +MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:0019046 OMIM:612233 OMIMPS:312080 leukodystrophy +MONDO:0012847 autosomal recessive congenital ichthyosis 6 MONDO:0017265 OMIM:612281 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0012857 porokeratosis 5, disseminated superficial actinic type MONDO:0006602 OMIM:612293 OMIMPS:175800 porokeratosis +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive MONDO:0100240 OMIM:612304 OMIMPS:188050 inherited thrombophilia +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0019064 OMIM:612335 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0100240 OMIM:612336 OMIMPS:188050 inherited thrombophilia +MONDO:0012869 intellectual disability, autosomal dominant 22 MONDO:0100172 OMIM:612337 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0020066 OMIM:612350 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type MONDO:0006602 OMIM:612353 OMIMPS:175800 porokeratosis +MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia MONDO:0018555 OMIM:612370 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0012890 pontocerebellar hypoplasia type 2B MONDO:0020135 OMIM:612389 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0012891 pontocerebellar hypoplasia type 2C MONDO:0020135 OMIM:612390 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0012895 torsion dystonia 17 MONDO:0044807 OMIM:612406 OMIMPS:128100 inherited dystonia +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 MONDO:0019507 OMIM:612529 OMIMPS:104500 amelogenesis imperfecta +MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0019064 OMIM:612539 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0018542 OMIM:612541 OMIMPS:202700 severe congenital neutropenia +MONDO:0012941 inflammatory bowel disease 25 MONDO:0005265 OMIM:612567 OMIMPS:266600 inflammatory bowel disease +MONDO:0012968 Usher syndrome type 1H MONDO:0019501 OMIM:612632 OMIMPS:276900 Usher syndrome +MONDO:0012987 agammaglobulinemia 6, autosomal recessive MONDO:0015977 OMIM:612692 OMIMPS:601495 agammaglobulinemia +MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia MONDO:0018555 OMIM:612702 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency MONDO:0021094 OMIM:612782 OMIMPS:300755 immunodeficiency disease +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency MONDO:0021094 OMIM:612783 OMIMPS:300755 immunodeficiency disease +MONDO:0013017 hypotrichosis 5 MONDO:0003037 OMIM:612841 OMIMPS:605389 hypotrichosis +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly MONDO:0957097 OMIM:612922 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly MONDO:0957097 OMIM:612923 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0957097 OMIM:612924 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly MONDO:0957097 OMIM:612925 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly MONDO:0957097 OMIM:612926 OMIMPS:235400 hereditary hemolytic uremic syndrome +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0100237 OMIM:612940 OMIMPS:123700 inherited cutis laxa +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0100062 OMIM:612949 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0005180 OMIM:612953 OMIMPS:168600 Parkinson disease +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:0016830 OMIM:612998 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:0016830 OMIM:612999 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 MONDO:0004822 OMIM:613021 OMIMPS:211400 bronchiectasis +MONDO:0013091 glycogen storage disease IXc MONDO:0002412 OMIM:613027 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 MONDO:0004822 OMIM:613071 OMIMPS:211400 bronchiectasis +MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0000090 OMIM:613077 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0013131 polycystic kidney disease 2 MONDO:0020642 OMIM:613095 OMIMPS:173900 polycystic kidney disease +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0019064 OMIM:613096 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant MONDO:0018542 OMIM:613107 OMIMPS:202700 severe congenital neutropenia +MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B MONDO:0015364 OMIM:613115 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013153 inflammatory bowel disease 28 MONDO:0005265 OMIM:613148 OMIMPS:266600 inflammatory bowel disease +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0019064 OMIM:613162 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0019064 OMIM:613206 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 MONDO:0019507 OMIM:613211 OMIMPS:104500 amelogenesis imperfecta +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0000824 OMIM:613217 OMIMPS:214700 congenital diarrhea +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:0015244 OMIM:613227 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013201 Waardenburg syndrome type 4B MONDO:0018094 OMIM:613265 OMIMPS:193500 Waardenburg syndrome +MONDO:0013202 Waardenburg syndrome type 4C MONDO:0018094 OMIM:613266 OMIMPS:193500 Waardenburg syndrome +MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N MONDO:0015626 OMIM:613287 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013218 exudative vitreoretinopathy 5 MONDO:0019516 OMIM:613310 OMIMPS:133780 exudative vitreoretinopathy +MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 MONDO:0000044 OMIM:613312 OMIMPS:193100 hereditary hypophosphatemic rickets +MONDO:0013220 hemochromatosis type 2B MONDO:0006507 OMIM:613313 OMIMPS:235200 hereditary hemochromatosis +MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0019064 OMIM:613364 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013241 spinocerebellar ataxia type 30 MONDO:0020380 OMIM:613371 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013243 neuronopathy, distal hereditary motor, type 2C MONDO:0015362 OMIM:613376 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0013247 Fanconi renotubular syndrome 2 MONDO:0100238 OMIM:613388 OMIMPS:134600 inherited Fanconi renotubular syndrome +MONDO:0013259 Oguchi disease-2 MONDO:0016293 OMIM:613411 OMIMPS:310500 congenital stationary night blindness +MONDO:0013287 agammaglobulinemia 2, autosomal recessive MONDO:0015977 OMIM:613500 OMIMPS:601495 agammaglobulinemia +MONDO:0013288 agammaglobulinemia 3, autosomal recessive MONDO:0015977 OMIM:613501 OMIMPS:601495 agammaglobulinemia +MONDO:0013289 agammaglobulinemia 4, autosomal recessive MONDO:0015977 OMIM:613502 OMIMPS:601495 agammaglobulinemia +MONDO:0013290 agammaglobulinemia 5, autosomal dominant MONDO:0015977 OMIM:613506 OMIMPS:601495 agammaglobulinemia +MONDO:0013291 glycogen storage disease XV MONDO:0002412 OMIM:613507 OMIMPS:232200 disorder of glycogen metabolism +MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C MONDO:0015364 OMIM:613640 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0015626 OMIM:613641 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013354 spastic ataxia 4 MONDO:0017845 OMIM:613672 OMIMPS:108600 spastic ataxia +MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive MONDO:0000359 OMIM:613686 OMIMPS:277300 spondylocostal dysostosis +MONDO:0013378 orofacial cleft 10 MONDO:0000358 OMIM:613705 OMIMPS:119530 orofacial cleft +MONDO:0013381 neuropathy, hereditary sensory, type 1D MONDO:0015364 OMIM:613708 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013389 developmental and epileptic encephalopathy, 12 MONDO:0100062 OMIM:613722 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0013411 cataract 16 multiple types MONDO:0005129 OMIM:613763 OMIMPS:116200 cataract +MONDO:0013438 pontocerebellar hypoplasia type 2D MONDO:0020135 OMIM:613811 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0013459 osteogenesis imperfecta type 10 MONDO:0019019 OMIM:613848 OMIMPS:166200 osteogenesis imperfecta +MONDO:0013460 osteogenesis imperfecta type 12 MONDO:0019019 OMIM:613849 OMIMPS:166200 osteogenesis imperfecta +MONDO:0013480 renal hypomagnesemia 6 MONDO:0018100 OMIM:613882 OMIMPS:602014 familial primary hypomagnesemia +MONDO:0013485 spinocerebellar ataxia type 35 MONDO:0020380 OMIM:613908 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013486 spinocerebellar ataxia type 32 MONDO:0020380 OMIM:613909 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0000137 OMIM:613925 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0000137 OMIM:613926 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0013515 osteogenesis imperfecta type 6 MONDO:0019019 OMIM:613982 OMIMPS:166200 osteogenesis imperfecta +MONDO:0013527 lissencephaly 4 MONDO:0018838 OMIM:614019 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement MONDO:0018949 OMIM:614065 OMIMPS:160500 distal myopathy +MONDO:0013555 Hermansky-Pudlak syndrome 3 MONDO:0019312 OMIM:614072 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013556 Hermansky-Pudlak syndrome 4 MONDO:0019312 OMIM:614073 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013557 Hermansky-Pudlak syndrome 5 MONDO:0019312 OMIM:614074 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013558 Hermansky-Pudlak syndrome 6 MONDO:0019312 OMIM:614075 OMIMPS:203300 Hermansky-Pudlak syndrome +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0015364 OMIM:614116 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013591 epiphyseal dysplasia, multiple, 6 MONDO:0016648 OMIM:614135 OMIMPS:132400 multiple epiphyseal dysplasia +MONDO:0013592 nonsyndromic congenital nail disorder 9 MONDO:0019284 OMIM:614149 OMIMPS:161050 inherited isolated nail anomaly +MONDO:0013594 spinocerebellar ataxia type 36 MONDO:0020380 OMIM:614153 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0013605 brittle cornea syndrome 2 MONDO:0020066 OMIM:614170 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0013607 monocytopenia with susceptibility to infections MONDO:0021094 OMIM:614172 OMIMPS:300755 immunodeficiency disease +MONDO:0013619 nephrotic syndrome, type 6 MONDO:0002350 OMIM:614196 OMIMPS:256300 familial nephrotic syndrome +MONDO:0013620 congenital myasthenic syndrome 16 MONDO:0018940 OMIM:614198 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0013625 Parkinson disease 17 MONDO:0005180 OMIM:614203 OMIMPS:168600 Parkinson disease +MONDO:0013634 neuropathy, hereditary sensory, type 2C MONDO:0015364 OMIM:614213 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O MONDO:0015626 OMIM:614228 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0015244 OMIM:614229 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013671 hydatidiform mole, recurrent, 2 MONDO:0006248 OMIM:614293 OMIMPS:231090 hydatidiform mole +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0016830 OMIM:614302 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0013686 distal myopathy, Tateyama type MONDO:0018949 OMIM:614321 OMIMPS:160500 distal myopathy +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0015244 OMIM:614322 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013698 arthrogryposis, distal, type 1B MONDO:0019942 OMIM:614335 OMIMPS:108120 distal arthrogryposis +MONDO:0013715 amyotrophic lateral sclerosis type 16 MONDO:0005144 OMIM:614373 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0019046 OMIM:614381 OMIMPS:312080 leukodystrophy +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0019064 OMIM:614409 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013744 cataract 37 MONDO:0005129 OMIM:614422 OMIMPS:116200 cataract +MONDO:0013751 cutis laxa, autosomal dominant 2 MONDO:0100237 OMIM:614434 OMIMPS:123700 inherited cutis laxa +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0015626 OMIM:614436 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013754 cutis laxa, autosomal recessive, type 1B MONDO:0100237 OMIM:614437 OMIMPS:123700 inherited cutis laxa +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0015626 OMIM:614455 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013776 spastic ataxia 5 MONDO:0017845 OMIM:614487 OMIMPS:108600 spastic ataxia +MONDO:0013788 Usher syndrome type 3B MONDO:0019501 OMIM:614504 OMIMPS:276900 Usher syndrome +MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive MONDO:0100240 OMIM:614514 OMIMPS:188050 inherited thrombophilia +MONDO:0013801 developmental and epileptic encephalopathy, 13 MONDO:0100062 OMIM:614558 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0013813 dystonia 21 MONDO:0044807 OMIM:614588 OMIMPS:128100 inherited dystonia +MONDO:0013853 pontocerebellar hypoplasia type 1B MONDO:0020135 OMIM:614678 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0013859 cataract 38 MONDO:0005129 OMIM:614691 OMIMPS:116200 cataract +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0016295 OMIM:614706 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0013868 porokeratosis 7, multiple types MONDO:0006602 OMIM:614714 OMIMPS:175800 porokeratosis +MONDO:0013883 congenital myasthenic syndrome 13 MONDO:0018940 OMIM:614750 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:0015244 OMIM:614831 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 MONDO:0019507 OMIM:614832 OMIMPS:104500 amelogenesis imperfecta +MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia MONDO:0018555 OMIM:614837 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia MONDO:0018555 OMIM:614838 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia MONDO:0018555 OMIM:614840 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia MONDO:0018555 OMIM:614858 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) MONDO:0019234 OMIM:614859 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013928 dystonia 23 MONDO:0044807 OMIM:614860 OMIMPS:128100 inherited dystonia +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) MONDO:0019234 OMIM:614862 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013931 peroxisome biogenesis disorder 4B MONDO:0019234 OMIM:614863 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) MONDO:0019234 OMIM:614866 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013933 peroxisome biogenesis disorder 5B MONDO:0019234 OMIM:614867 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013934 combined immunodeficiency due to STK4 deficiency MONDO:0021094 OMIM:614868 OMIMPS:300755 immunodeficiency disease +MONDO:0013935 Usher syndrome type 1J MONDO:0019501 OMIM:614869 OMIMPS:276900 Usher syndrome +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) MONDO:0019234 OMIM:614870 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013937 peroxisome biogenesis disorder 6B MONDO:0019234 OMIM:614871 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) MONDO:0019234 OMIM:614872 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013939 peroxisome biogenesis disorder 7B MONDO:0019234 OMIM:614873 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) MONDO:0019234 OMIM:614876 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013943 peroxisome biogenesis disorder 8B MONDO:0019234 OMIM:614877 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013945 peroxisome biogenesis disorder 9B MONDO:0019234 OMIM:614879 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia MONDO:0018555 OMIM:614880 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) MONDO:0019234 OMIM:614882 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) MONDO:0019234 OMIM:614883 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013950 peroxisome biogenesis disorder 11B MONDO:0019234 OMIM:614885 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) MONDO:0019234 OMIM:614886 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) MONDO:0019234 OMIM:614887 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013959 Charcot-Marie-Tooth disease type 4F MONDO:0015626 OMIM:614895 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia MONDO:0018555 OMIM:614897 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0019064 OMIM:614898 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0013967 peroxisome biogenesis disorder 14B MONDO:0019234 OMIM:614920 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0013974 ectodermal dysplasia 6, hair/nail type MONDO:0019287 OMIM:614928 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013975 ectodermal dysplasia 7, hair/nail type MONDO:0019287 OMIM:614929 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013976 ectodermal dysplasia 9, hair/nail type MONDO:0019287 OMIM:614931 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:0019287 OMIM:614940 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0019287 OMIM:614941 OMIMPS:305100 ectodermal dysplasia syndrome +MONDO:0013996 focal facial dermal dysplasia type II MONDO:0018363 OMIM:614973 OMIMPS:136500 focal facial dermal dysplasia +MONDO:0014001 Usher syndrome type 1K MONDO:0019501 OMIM:614990 OMIMPS:276900 Usher syndrome +MONDO:0014009 autosomal recessive congenital ichthyosis 7 MONDO:0017265 OMIM:615022 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0014010 autosomal recessive congenital ichthyosis 9 MONDO:0017265 OMIM:615023 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0014011 autosomal recessive congenital ichthyosis 10 MONDO:0017265 OMIM:615024 OMIMPS:242300 autosomal recessive congenital ichthyosis +MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q MONDO:0015626 OMIM:615025 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0019064 OMIM:615033 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014019 dystonia 24 MONDO:0044807 OMIM:615034 OMIMPS:128100 inherited dystonia +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0019064 OMIM:615035 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0019064 OMIM:615043 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014029 osteogenesis imperfecta type 14 MONDO:0019019 OMIM:615066 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014033 dystonia 25 MONDO:0044807 OMIM:615073 OMIMPS:128100 inherited dystonia +MONDO:0014052 congenital myasthenic syndrome 8 MONDO:0018940 OMIM:615120 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0015626 OMIM:615185 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014075 cataract 39 multiple types MONDO:0005129 OMIM:615188 OMIMPS:116200 cataract +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0015780 OMIM:615190 OMIMPS:127550 dyskeratosis congenita +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0018838 OMIM:615191 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0021094 OMIM:615206 OMIMPS:300755 immunodeficiency disease +MONDO:0014083 agammaglobulinemia 7, autosomal recessive MONDO:0015977 OMIM:615214 OMIMPS:601495 agammaglobulinemia +MONDO:0014086 osteogenesis imperfecta type 15 MONDO:0019019 OMIM:615220 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014090 polydactyly, postaxial, type A6 MONDO:0020927 OMIM:615226 OMIMPS:174200 postaxial polydactyly +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency +MONDO:0014099 nephrotic syndrome, type 8 MONDO:0002350 OMIM:615244 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia MONDO:0018555 OMIM:615266 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia MONDO:0018555 OMIM:615267 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia MONDO:0018555 OMIM:615269 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia MONDO:0018555 OMIM:615270 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia MONDO:0018555 OMIM:615271 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014110 cataract 15 multiple types MONDO:0005129 OMIM:615274 OMIMPS:116200 cataract +MONDO:0014111 cataract 19 multiple types MONDO:0005129 OMIM:615277 OMIMPS:116200 cataract +MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0015626 OMIM:615284 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0018542 OMIM:615285 OMIMPS:202700 severe congenital neutropenia +MONDO:0014128 TCF12-related craniosynostosis MONDO:0015469 OMIM:615314 OMIMPS:123100 craniosynostosis +MONDO:0014130 Dowling-Degos disease 2 MONDO:0000118 OMIM:615327 OMIMPS:179850 reticulate pigment disorder +MONDO:0014133 developmental and epileptic encephalopathy, 16 MONDO:0100062 OMIM:615338 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014138 nemaline myopathy 8 MONDO:0018958 OMIM:615348 OMIMPS:161800 nemaline myopathy +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0020066 OMIM:615349 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0016295 OMIM:615362 OMIMPS:256730 neuronal ceroid lipofuscinosis +MONDO:0014150 developmental and epileptic encephalopathy 94 MONDO:0100062 OMIM:615369 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0015626 OMIM:615376 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0021094 OMIM:615387 OMIMPS:300755 immunodeficiency disease +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency MONDO:0021094 OMIM:615401 OMIMPS:300755 immunodeficiency disease +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0021094 OMIM:615468 OMIMPS:300755 immunodeficiency disease +MONDO:0014198 mitochondrial DNA depletion syndrome 13 MONDO:0018158 OMIM:615471 OMIMPS:603041 mitochondrial DNA depletion syndrome +MONDO:0014208 Charcot-Marie-Tooth disease type 2R MONDO:0015626 OMIM:615490 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014222 immunodeficiency 14 MONDO:0021094 OMIM:615513 OMIMPS:300755 immunodeficiency disease +MONDO:0014231 juvenile onset Parkinson disease 19A MONDO:0005180 OMIM:615528 OMIMPS:168600 Parkinson disease +MONDO:0014233 early-onset Parkinson disease 20 MONDO:0005180 OMIM:615530 OMIMPS:168600 Parkinson disease +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:0020066 OMIM:615539 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0014257 nephrotic syndrome, type 9 MONDO:0002350 OMIM:615573 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014259 neuronopathy, distal hereditary motor, type 2D MONDO:0015362 OMIM:615575 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0021094 OMIM:615592 OMIMPS:300755 immunodeficiency disease +MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0021094 OMIM:615593 OMIMPS:300755 immunodeficiency disease +MONDO:0014275 Fanconi renotubular syndrome 3 MONDO:0100238 OMIM:615605 OMIMPS:134600 inherited Fanconi renotubular syndrome +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0021094 OMIM:615607 OMIMPS:300755 immunodeficiency disease +MONDO:0014278 immunodeficiency 18 MONDO:0021094 OMIM:615615 OMIMPS:300755 immunodeficiency disease +MONDO:0014280 immunodeficiency 19 MONDO:0021094 OMIM:615617 OMIMPS:300755 immunodeficiency disease +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0019064 OMIM:615625 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014285 congenital dyserythropoietic anemia type type 1B MONDO:0019403 OMIM:615631 OMIMPS:224120 congenital dyserythropoietic anemia +MONDO:0014286 neuropathy, hereditary sensory, type 1F MONDO:0015364 OMIM:615632 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0019064 OMIM:615658 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014301 dowling-degos disease 3 MONDO:0000118 OMIM:615674 OMIMPS:179850 reticulate pigment disorder +MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0019064 OMIM:615681 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0019064 OMIM:615683 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0019064 OMIM:615685 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0019064 OMIM:615686 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014307 Dowling-Degos disease 4 MONDO:0000118 OMIM:615696 OMIMPS:179850 reticulate pigment disorder +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0015244 OMIM:615705 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014326 nemaline myopathy 9 MONDO:0018958 OMIM:615731 OMIMPS:161800 nemaline myopathy +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0021094 OMIM:615758 OMIMPS:300755 immunodeficiency disease +MONDO:0014360 developmental and epileptic encephalopathy, 21 MONDO:0100062 OMIM:615833 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014373 nephrotic syndrome, type 10 MONDO:0002350 OMIM:615861 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014377 developmental and epileptic encephalopathy, 24 MONDO:0100062 OMIM:615871 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 MONDO:0019507 OMIM:615887 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0021094 OMIM:615897 OMIMPS:300755 immunodeficiency disease +MONDO:0014392 developmental and epileptic encephalopathy, 25 MONDO:0100062 OMIM:615905 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014410 spinocerebellar ataxia type 37 MONDO:0020380 OMIM:615945 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0020380 OMIM:615957 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014418 myopathy, centronuclear, 5 MONDO:0018947 OMIM:615959 OMIMPS:160150 centronuclear myopathy +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0021094 OMIM:615966 OMIMPS:300755 immunodeficiency disease +MONDO:0014453 immunodeficiency 36 MONDO:0021094 OMIM:616005 OMIMPS:300755 immunodeficiency disease +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0018542 OMIM:616022 OMIMPS:202700 severe congenital neutropenia +MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia MONDO:0018555 OMIM:616030 OMIMPS:147950 hypogonadotropic hypogonadism +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0015626 OMIM:616039 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014475 spinocerebellar ataxia type 40 MONDO:0020380 OMIM:616053 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014477 developmental and epileptic encephalopathy, 26 MONDO:0100062 OMIM:616056 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014479 porokeratosis 8, disseminated superficial actinic type MONDO:0006602 OMIM:616063 OMIMPS:175800 porokeratosis +MONDO:0014485 pontocerebellar hypoplasia, type 1C MONDO:0020135 OMIM:616081 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0015244 OMIM:616127 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014508 vitelliform macular dystrophy 4 MONDO:0000390 OMIM:616151 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0014509 vitelliform macular dystrophy 5 MONDO:0000390 OMIM:616152 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S MONDO:0015626 OMIM:616155 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014513 nemaline myopathy 10 MONDO:0018958 OMIM:616165 OMIMPS:161800 nemaline myopathy +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:0015244 OMIM:616204 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014533 developmental and epileptic encephalopathy, 28 MONDO:0100062 OMIM:616211 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014534 lissencephaly 6 with microcephaly MONDO:0018838 OMIM:616212 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0014540 amelogenesis imperfecta type 1H MONDO:0019507 OMIM:616221 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014543 congenital myasthenic syndrome 14 MONDO:0018940 OMIM:616228 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014544 osteogenesis imperfecta type 16 MONDO:0019019 OMIM:616229 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014555 peeling skin syndrome type A MONDO:0019347 OMIM:616265 OMIMPS:270300 peeling skin syndrome +MONDO:0014560 amelogenesis imperfecta type 1F MONDO:0019507 OMIM:616270 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014565 cataract 43 MONDO:0005129 OMIM:616279 OMIMPS:116200 cataract +MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0015626 OMIM:616280 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0019064 OMIM:616282 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014578 congenital myasthenic syndrome 17 MONDO:0018940 OMIM:616304 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014580 intellectual disability, autosomal dominant 33 MONDO:0100172 OMIM:616311 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014581 congenital myasthenic syndrome 2A MONDO:0018940 OMIM:616313 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014582 congenital myasthenic syndrome 2C MONDO:0018940 OMIM:616314 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014583 congenital myasthenic syndrome 3A MONDO:0018940 OMIM:616321 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014584 congenital myasthenic syndrome 3B MONDO:0018940 OMIM:616322 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014585 congenital myasthenic syndrome 3C MONDO:0018940 OMIM:616323 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014586 congenital myasthenic syndrome 4B MONDO:0018940 OMIM:616324 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014587 congenital myasthenic syndrome 9 MONDO:0018940 OMIM:616325 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014588 congenital myasthenic syndrome 11 MONDO:0018940 OMIM:616326 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014591 autosomal dominant Robinow syndrome 2 MONDO:0019978 OMIM:616331 OMIMPS:268310 Robinow syndrome +MONDO:0014593 developmental and epileptic encephalopathy, 29 MONDO:0100062 OMIM:616339 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014598 developmental and epileptic encephalopathy, 31A MONDO:0100062 OMIM:616346 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014599 intellectual disability, autosomal dominant 34 MONDO:0100172 OMIM:616351 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014604 Parkinson disease 21 MONDO:0005180 OMIM:616361 OMIMPS:168600 Parkinson disease +MONDO:0014607 developmental and epileptic encephalopathy, 32 MONDO:0100062 OMIM:616366 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014615 trichothiodystrophy 2, photosensitive MONDO:0018053 OMIM:616390 OMIMPS:601675 trichothiodystrophy +MONDO:0014619 trichothiodystrophy 3, photosensitive MONDO:0018053 OMIM:616395 OMIMPS:601675 trichothiodystrophy +MONDO:0014620 myoclonic dystonia 26 MONDO:0044807 OMIM:616398 OMIMPS:128100 inherited dystonia +MONDO:0014625 developmental and epileptic encephalopathy, 33 MONDO:0100062 OMIM:616409 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014626 spinocerebellar ataxia type 41 MONDO:0020380 OMIM:616410 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014627 dystonia 27 MONDO:0044807 OMIM:616411 OMIMPS:128100 inherited dystonia +MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0019064 OMIM:616451 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0015626 OMIM:616491 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO:0019046 OMIM:616494 OMIMPS:312080 leukodystrophy +MONDO:0014672 osteogenesis imperfecta type 17 MONDO:0019019 OMIM:616507 OMIMPS:166200 osteogenesis imperfecta +MONDO:0014673 cataract 44 MONDO:0005129 OMIM:616509 OMIMPS:116200 cataract +MONDO:0014681 thyroid cancer, nonmedullary, 4 MONDO:0017896 OMIM:616534 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0014682 thyroid cancer, nonmedullary, 5 MONDO:0017896 OMIM:616535 OMIMPS:188550 familial nonmedullary thyroid carcinoma +MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive MONDO:0000359 OMIM:616566 OMIMPS:277300 spondylocostal dysostosis +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0019064 OMIM:616586 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014705 craniosynostosis 6 MONDO:0015469 OMIM:616602 OMIMPS:123100 craniosynostosis +MONDO:0014706 cutis laxa, autosomal dominant 3 MONDO:0100237 OMIM:616603 OMIMPS:123700 inherited cutis laxa +MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0015626 OMIM:616625 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014713 porokeratosis 9, multiple types MONDO:0006602 OMIM:616631 OMIMPS:175800 porokeratosis +MONDO:0014718 developmental and epileptic encephalopathy, 34 MONDO:0100062 OMIM:616645 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0015626 OMIM:616668 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0019064 OMIM:616680 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0015626 OMIM:616684 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014735 Charcot-Marie-Tooth disease type 2Y MONDO:0015626 OMIM:616687 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z MONDO:0015626 OMIM:616688 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014742 Parkinson disease 22, autosomal dominant MONDO:0005180 OMIM:616710 OMIMPS:168600 Parkinson disease +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:0015776 OMIM:616716 OMIMPS:215100 rhizomelic chondrodysplasia punctata +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0015244 OMIM:616719 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014745 congenital myasthenic syndrome 19 MONDO:0018940 OMIM:616720 OMIMPS:601462 congenital myasthenic syndrome +MONDO:0014752 nephrotic syndrome, type 11 MONDO:0002350 OMIM:616730 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014772 orofacial cleft 15 MONDO:0000358 OMIM:616788 OMIMPS:119530 orofacial cleft +MONDO:0014776 spinocerebellar ataxia type 42 MONDO:0020380 OMIM:616795 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 MONDO:0005180 OMIM:616840 OMIMPS:168600 Parkinson disease +MONDO:0014799 cataract 45 MONDO:0005129 OMIM:616851 OMIMPS:116200 cataract +MONDO:0014804 sideroblastic anemia 3 MONDO:0020099 OMIM:616860 OMIMPS:300751 inherited sideroblastic anemia +MONDO:0014808 congenital secretory sodium diarrhea 8 MONDO:0000824 OMIM:616868 OMIMPS:214700 congenital diarrhea +MONDO:0014817 nephrotic syndrome, type 12 MONDO:0002350 OMIM:616892 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014818 nephrotic syndrome, type 13 MONDO:0002350 OMIM:616893 OMIMPS:256300 familial nephrotic syndrome +MONDO:0014819 autosomal dominant Robinow syndrome 3 MONDO:0019978 OMIM:616894 OMIMPS:268310 Robinow syndrome +MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0019064 OMIM:616907 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC MONDO:0015626 OMIM:616924 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014837 thrombocytopenia 6 MONDO:0100241 OMIM:616937 OMIMPS:313900 inherited thrombocytopenia +MONDO:0014840 agammaglobulinemia 8, autosomal dominant MONDO:0015977 OMIM:616941 OMIMPS:601495 agammaglobulinemia +MONDO:0014842 intellectual disability, autosomal dominant 41 MONDO:0100172 OMIM:616944 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0015244 OMIM:616949 OMIMPS:213200 autosomal recessive cerebellar ataxia +MONDO:0014858 intellectual disability, autosomal dominant 43 MONDO:0100172 OMIM:616977 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0018542 OMIM:617014 OMIMPS:202700 severe congenital neutropenia +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0015626 OMIM:617017 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0014874 pontocerebellar hypoplasia, type 2F MONDO:0020135 OMIM:617026 OMIMPS:607596 pontocerebellar hypoplasia +MONDO:0014916 developmental and epileptic encephalopathy, 41 MONDO:0100062 OMIM:617105 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014917 developmental and epileptic encephalopathy, 42 MONDO:0100062 OMIM:617106 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014921 developmental and epileptic encephalopathy, 43 MONDO:0100062 OMIM:617113 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014933 developmental and epileptic encephalopathy, 44 MONDO:0100062 OMIM:617132 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014942 developmental and epileptic encephalopathy, 45 MONDO:0100062 OMIM:617153 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014947 developmental and epileptic encephalopathy, 46 MONDO:0100062 OMIM:617162 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014949 developmental and epileptic encephalopathy, 47 MONDO:0100062 OMIM:617166 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 MONDO:0020066 OMIM:617174 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 MONDO:0019507 OMIM:617217 OMIMPS:104500 amelogenesis imperfecta +MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0019064 OMIM:617225 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0014981 immunodeficiency 49 MONDO:0021094 OMIM:617237 OMIMPS:300755 immunodeficiency disease +MONDO:0015008 amelogenesis imperfecta, type 1J MONDO:0019507 OMIM:617297 OMIMPS:104500 amelogenesis imperfecta +MONDO:0015023 MYPN-related myopathy MONDO:0019952 OMIM:617336 OMIMPS:117000 congenital myopathy +MONDO:0015353 neuronopathy, distal hereditary motor, type 5A MONDO:0015362 OMIM:600794 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0100237 OMIM:219200 OMIMPS:123700 inherited cutis laxa +MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 MONDO:0020066 OMIM:130000 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 MONDO:0020066 OMIM:130010 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 MONDO:0020066 OMIM:601776 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 MONDO:0020066 OMIM:130070 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 MONDO:0020066 OMIM:130080 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive MONDO:0000359 OMIM:277300 OMIMPS:277300 spondylocostal dysostosis +MONDO:0020727 combined oxidative phosphorylation deficiency 22 MONDO:0000732 OMIM:616045 OMIMPS:609060 combined oxidative phosphorylation deficiency +MONDO:0020729 autosomal recessive agammaglobulinemia 1 MONDO:0015977 OMIM:601495 OMIMPS:601495 agammaglobulinemia +MONDO:0020820 distal arthrogryposis type 2B1 MONDO:0019942 OMIM:601680 OMIMPS:108120 distal arthrogryposis +MONDO:0020847 intellectual disability, autosomal dominant 58 MONDO:0100172 OMIM:618106 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0021020 Crigler-Najjar syndrome type 1 MONDO:0002408 OMIM:218800 OMIMPS:237450 hereditary hyperbilirubinemia +MONDO:0021547 amelogenesis imperfecta type 3B MONDO:0019507 OMIM:617607 OMIMPS:104500 amelogenesis imperfecta +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant MONDO:0016830 OMIM:181350 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A MONDO:0015364 OMIM:201300 OMIMPS:162400 hereditary sensory and autonomic neuropathy +MONDO:0024455 autosomal dominant Robinow syndrome 1 MONDO:0019978 OMIM:180700 OMIMPS:268310 Robinow syndrome +MONDO:0024456 anterior segment dysgenesis 3 MONDO:0019503 OMIM:601631 OMIMPS:107250 anterior segment dysgenesis +MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0018307 OMIM:256600 OMIMPS:234200 neurodegeneration with brain iron accumulation +MONDO:0024525 Fanconi renotubular syndrome 1 MONDO:0100238 OMIM:134600 OMIMPS:134600 inherited Fanconi renotubular syndrome +MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0000090 OMIM:157640 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions +MONDO:0024534 Dowling-Degos disease 1 MONDO:0000118 OMIM:179850 OMIMPS:179850 reticulate pigment disorder +MONDO:0024543 brittle cornea syndrome 1 MONDO:0020066 OMIM:229200 OMIMPS:130000 Ehlers-Danlos syndrome +MONDO:0024548 peeling skin syndrome 1 MONDO:0019347 OMIM:270300 OMIMPS:270300 peeling skin syndrome +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0016537 OMIM:308240 OMIMPS:308240 lymphoproliferative syndrome +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0021094 OMIM:308240 OMIMPS:300755 immunodeficiency disease +MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:0016073 OMIM:309801 OMIMPS:309800 syndromic microphthalmia +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:0000137 OMIM:604004 OMIMPS:604004 leukoencephalopathy, megalencephalic +MONDO:0024561 vitelliform macular dystrophy 3 MONDO:0000390 OMIM:608161 OMIMPS:153840 vitelliform macular dystrophy +MONDO:0024569 optic atrophy 8 MONDO:0043878 OMIM:616648 OMIMPS:165500 hereditary optic atrophy +MONDO:0024570 hyperparathyroidism 4 MONDO:0016166 OMIM:617343 OMIMPS:145000 hereditary hyperparathyroidism +MONDO:0027451 autosomal recessive cutis laxa type 2D MONDO:0100237 OMIM:617403 OMIMPS:123700 inherited cutis laxa +MONDO:0027462 autosomal recessive cutis laxa type 2C MONDO:0100237 OMIM:617402 OMIMPS:123700 inherited cutis laxa +MONDO:0029130 polydactyly, postaxial, type A8 MONDO:0020927 OMIM:618123 OMIMPS:174200 postaxial polydactyly +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0021094 OMIM:618131 OMIMPS:300755 immunodeficiency disease +MONDO:0030482 spastic paraplegia 84, autosomal recessive MONDO:0019064 OMIM:619621 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0030512 spastic paraplegia 85, autosomal recessive MONDO:0019064 OMIM:619686 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 MONDO:0030831 OMIM:619708 OMIMPS:243150 gastrointestinal defect and immunodeficiency syndrome +MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0019064 OMIM:619735 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies MONDO:0021094 OMIM:619750 OMIMPS:300755 immunodeficiency disease +MONDO:0030860 neuronopathy, distal hereditary motor, type 5C MONDO:0015362 OMIM:619112 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant +MONDO:0030910 intellectual disability, autosomal dominant 45 MONDO:0100172 OMIM:617600 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030911 intellectual disability, autosomal dominant 46 MONDO:0100172 OMIM:617601 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0100172 OMIM:617635 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030916 intellectual disability, autosomal dominant 50 MONDO:0100172 OMIM:617787 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030917 intellectual disability, autosomal dominant 51 MONDO:0100172 OMIM:617788 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030918 intellectual disability, autosomal dominant 52 MONDO:0100172 OMIM:617796 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030919 intellectual disability, autosomal dominant 53 MONDO:0100172 OMIM:617798 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030920 intellectual disability, autosomal dominant 54 MONDO:0100172 OMIM:617799 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures MONDO:0100172 OMIM:617831 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030922 intellectual disability, autosomal dominant 56 MONDO:0100172 OMIM:617854 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0030981 immunodeficiency 79 MONDO:0021094 OMIM:619238 OMIMPS:300755 immunodeficiency disease +MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0000009 OMIM:619267 OMIMPS:231200 inherited bleeding disorder, platelet-type +MONDO:0031062 polycystic kidney disease 7 MONDO:0020642 OMIM:620056 OMIMPS:173900 polycystic kidney disease +MONDO:0031332 Glanzmann thrombasthenia 1 MONDO:0000009 OMIM:273800 OMIMPS:231200 inherited bleeding disorder, platelet-type +MONDO:0032485 intellectual developmental disorder 61 MONDO:0100172 OMIM:618009 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032569 isolated growth hormone deficiency, type 5 MONDO:0013099 OMIM:618160 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form +MONDO:0032677 lissencephaly 9 with complex brainstem malformation MONDO:0018838 OMIM:618325 OMIMPS:607432 lissencephaly spectrum disorders +MONDO:0032717 amelogenesis imperfecta, type 3C MONDO:0019507 OMIM:618386 OMIMPS:104500 amelogenesis imperfecta +MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE MONDO:0015626 OMIM:618400 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0032750 arthrogryposis, distal, type 2B2 MONDO:0019942 OMIM:618435 OMIMPS:108120 distal arthrogryposis +MONDO:0032751 arthrogryposis, distal, type 2B3 MONDO:0019942 OMIM:618436 OMIMPS:108120 distal arthrogryposis +MONDO:0032795 intellectual developmental disorder 59 MONDO:0100172 OMIM:618522 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032823 intellectual developmental disorder 60 with seizures MONDO:0100172 OMIM:618587 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032919 intellectual developmental disorder 62 MONDO:0100172 OMIM:618793 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly MONDO:0100172 OMIM:618825 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0033004 polycystic kidney disease 4 MONDO:0020642 OMIM:263200 OMIMPS:173900 polycystic kidney disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0017845 OMIM:617560 OMIMPS:108600 spastic ataxia +MONDO:0033281 polycystic kidney disease 5 MONDO:0020642 OMIM:617610 OMIMPS:173900 polycystic kidney disease +MONDO:0033480 spinocerebellar ataxia 45 MONDO:0020380 OMIM:617769 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0033481 spinocerebellar ataxia 46 MONDO:0020380 OMIM:617770 OMIMPS:164400 autosomal dominant cerebellar ataxia +MONDO:0033492 Coffin-Siris syndrome 6 MONDO:0100172 OMIM:617808 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:0021094 OMIM:618986 OMIMPS:300755 immunodeficiency disease +MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:0021094 OMIM:618987 OMIMPS:300755 immunodeficiency disease +MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G MONDO:0015626 OMIM:617882 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant MONDO:0018542 OMIM:202700 OMIMPS:202700 severe congenital neutropenia +MONDO:0044329 osteogenesis imperfecta, type 18 MONDO:0019019 OMIM:617952 OMIMPS:166200 osteogenesis imperfecta +MONDO:0044721 severe combined immunodeficiency due to LAT deficiency MONDO:0021094 OMIM:617514 OMIMPS:300755 immunodeficiency disease +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency MONDO:0021094 OMIM:617827 OMIMPS:300755 immunodeficiency disease +MONDO:0049223 osteogenesis imperfecta, type 19 MONDO:0019019 OMIM:301014 OMIMPS:166200 osteogenesis imperfecta +MONDO:0054549 peroxisome biogenesis disorder 10B MONDO:0019234 OMIM:617370 OMIMPS:214100 peroxisome biogenesis disorder +MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0015626 OMIM:618036 OMIMPS:118220 Charcot-Marie-Tooth disease +MONDO:0054837 intellectual disability, autosomal dominant 57 MONDO:0100172 OMIM:618050 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease MONDO:0020642 OMIM:618061 OMIMPS:173900 polycystic kidney disease +MONDO:0060550 polydactyly, postaxial, type a7 MONDO:0020927 OMIM:617642 OMIMPS:174200 postaxial polydactyly +MONDO:0060729 protoporphyria, erythropoietic, 2 MONDO:0001676 OMIM:618015 OMIMPS:177000 erythropoietic protoporphyria +MONDO:0100352 episodic kinesigenic dyskinesia 1 MONDO:0044807 OMIM:128200 OMIMPS:128100 inherited dystonia +MONDO:0100433 ACTB-associated syndromic thrombocytopenia MONDO:0100241 OMIM:620475 OMIMPS:313900 inherited thrombocytopenia +MONDO:0100522 hypotrichosis 4 MONDO:0003037 OMIM:146550 OMIMPS:605389 hypotrichosis +MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 OMIM:310300 OMIMPS:310300 Emery-Dreifuss muscular dystrophy +MONDO:0700087 Usher syndrome type 1B MONDO:0019501 OMIM:276900 OMIMPS:276900 Usher syndrome +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0044807 OMIM:118800 OMIMPS:128100 inherited dystonia +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy +MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive MONDO:0007239 OMIM:620707 OMIMPS:113800 epidermolytic ichthyosis +MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant MONDO:0007239 OMIM:620150 OMIMPS:113800 epidermolytic ichthyosis +MONDO:0800104 immunodeficiency 105 MONDO:0021094 OMIM:619924 OMIMPS:300755 immunodeficiency disease +MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0020074 OMIM:620681 OMIMPS:254800 progressive myoclonus epilepsy +MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0044807 OMIM:620245 OMIMPS:128100 inherited dystonia +MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 MONDO:0100172 OMIM:620450 OMIMPS:156200 intellectual disability, autosomal dominant +MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:0100223 OMIM:619382 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type +MONDO:0958199 myoclonic epilepsy of Lafora 1 MONDO:0020074 OMIM:254780 OMIMPS:254800 progressive myoclonus epilepsy +MONDO:0958335 cutis laxa, autosomal recessive, type 1d MONDO:0100237 OMIM:620780 OMIMPS:123700 inherited cutis laxa +MONDO:0971005 MHC class II deficiency 1 MONDO:0031520 OMIM:209920 OMIMPS:601457 familial severe combined immunodeficiency +MONDO:0971178 polycystic kidney disease 8 MONDO:0020642 OMIM:620903 OMIMPS:173900 polycystic kidney disease +MONDO:0000023 infantile liver failure MONDO:0000001 Orphanet:464724 Orphanet:377788 disease +MONDO:0000050 isolated congenital growth hormone deficiency MONDO:0000001 Orphanet:631 Orphanet:377788 disease +MONDO:0000050 isolated congenital growth hormone deficiency MONDO:0019824 Orphanet:631 Orphanet:95488 non-acquired pituitary hormone deficiency +MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO:0000001 Orphanet:2340 Orphanet:377788 disease +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A MONDO:0000001 Orphanet:899 Orphanet:377788 disease +MONDO:0000179 Neu-Laxova syndrome MONDO:0018162 Orphanet:2671 Orphanet:35705 neurometabolic disorder due to serine deficiency +MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO:0000001 Orphanet:486811 Orphanet:377788 disease +MONDO:0000211 striatal degeneration, autosomal dominant MONDO:0000001 Orphanet:228169 Orphanet:377788 disease +MONDO:0000212 hypercalcemia, infantile MONDO:0000001 Orphanet:300547 Orphanet:377788 disease +MONDO:0000330 endemic typhus MONDO:0000001 Orphanet:83315 Orphanet:377788 disease +MONDO:0000355 Ullrich congenital muscular dystrophy MONDO:0000001 Orphanet:75840 Orphanet:377788 disease +MONDO:0000453 short QT syndrome MONDO:0000001 Orphanet:51083 Orphanet:377788 disease +MONDO:0000455 cone dystrophy MONDO:0000001 Orphanet:1871 Orphanet:377788 disease +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000001 Orphanet:52430 Orphanet:377788 disease +MONDO:0000565 infective endocarditis MONDO:0000001 Orphanet:570762 Orphanet:377788 disease +MONDO:0000645 fallopian tube benign neoplasm MONDO:0000001 Orphanet:180237 Orphanet:377788 disease +MONDO:0000736 dyschromatosis universalis hereditaria MONDO:0000001 Orphanet:241 Orphanet:377788 disease +MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0000001 Orphanet:2598 Orphanet:377788 disease +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy MONDO:0000001 Orphanet:1496 Orphanet:377788 disease +MONDO:0000903 myoclonus-dystonia syndrome MONDO:0000001 Orphanet:36899 Orphanet:377788 disease +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0000001 Orphanet:136 Orphanet:377788 disease +MONDO:0001032 Mooren ulcer MONDO:0000001 Orphanet:519408 Orphanet:377788 disease +MONDO:0001195 spotted fever MONDO:0006956 Orphanet:102022 Orphanet:102021 Rickettsiosis +MONDO:0001246 typhus MONDO:0006956 Orphanet:102023 Orphanet:102021 Rickettsiosis +MONDO:0001280 choroiditis MONDO:0020283 Orphanet:280892 Orphanet:98715 uveitis +MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0000001 Orphanet:269 Orphanet:377788 disease +MONDO:0001444 Chagas disease MONDO:0000001 Orphanet:3386 Orphanet:377788 disease +MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0000001 Orphanet:579 Orphanet:377788 disease +MONDO:0001595 choreatic disease MONDO:0000001 Orphanet:1429 Orphanet:377788 disease +MONDO:0001633 central retinal artery occlusion MONDO:0000001 Orphanet:648684 Orphanet:377788 disease +MONDO:0001734 tuberous sclerosis MONDO:0000001 Orphanet:805 Orphanet:377788 disease +MONDO:0001881 toxic shock syndrome MONDO:0000001 Orphanet:36234 Orphanet:377788 disease +MONDO:0001945 postencephalitic Parkinson disease MONDO:0000001 Orphanet:97349 Orphanet:377788 disease +MONDO:0001956 capillary leak syndrome MONDO:0000001 Orphanet:188 Orphanet:377788 disease +MONDO:0001971 farmer's lung disease MONDO:0000001 Orphanet:99906 Orphanet:377788 disease +MONDO:0002096 malignant conjunctival melanoma MONDO:0000001 Orphanet:617910 Orphanet:377788 disease +MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0000001 Orphanet:2023 Orphanet:377788 disease +MONDO:0002158 fallopian tube cancer MONDO:0000001 Orphanet:180242 Orphanet:377788 disease +MONDO:0002413 glycogen storage disease I MONDO:0000001 Orphanet:364 Orphanet:377788 disease +MONDO:0002422 adamantinoma MONDO:0000001 Orphanet:55881 Orphanet:377788 disease +MONDO:0002422 adamantinoma MONDO:0019060 Orphanet:55881 Orphanet:68411 bone neoplasm +MONDO:0002441 Jervell and Lange-Nielsen syndrome MONDO:0000001 Orphanet:90647 Orphanet:377788 disease +MONDO:0002474 primary hyperoxaluria MONDO:0000001 Orphanet:416 Orphanet:377788 disease +MONDO:0002546 schwannoma MONDO:0000001 Orphanet:252164 Orphanet:377788 disease +MONDO:0002571 primary central nervous system lymphoma MONDO:0000001 Orphanet:46135 Orphanet:377788 disease +MONDO:0002629 bone osteosarcoma MONDO:0000001 Orphanet:668 Orphanet:377788 disease +MONDO:0002653 Paget disease of the penis MONDO:0000001 Orphanet:398053 Orphanet:377788 disease +MONDO:0002653 Paget disease of the penis MONDO:0001325 Orphanet:398053 Orphanet:398043 penile cancer +MONDO:0002684 atypical choroid plexus papilloma MONDO:0000001 Orphanet:251902 Orphanet:377788 disease +MONDO:0002687 superior mesenteric artery syndrome MONDO:0000001 Orphanet:622099 Orphanet:377788 disease +MONDO:0002697 ovarian gonadoblastoma MONDO:0000001 Orphanet:206484 Orphanet:377788 disease +MONDO:0002697 ovarian gonadoblastoma MONDO:0018365 Orphanet:206484 Orphanet:398940 malignant non-epithelial tumor of ovary +MONDO:0002728 rhabdoid tumor MONDO:0000001 Orphanet:69077 Orphanet:377788 disease +MONDO:0002735 anal canal adenocarcinoma MONDO:0000001 Orphanet:424016 Orphanet:377788 disease +MONDO:0002752 ovarian adenocarcinoma MONDO:0000001 Orphanet:213504 Orphanet:377788 disease +MONDO:0002752 ovarian adenocarcinoma MONDO:0018364 Orphanet:213504 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0002876 cervical adenosarcoma MONDO:0000001 Orphanet:213792 Orphanet:377788 disease +MONDO:0002877 cervical carcinosarcoma MONDO:0000001 Orphanet:213787 Orphanet:377788 disease +MONDO:0002878 uterine corpus adenosarcoma MONDO:0000001 Orphanet:213600 Orphanet:377788 disease +MONDO:0002878 uterine corpus adenosarcoma MONDO:0016255 Orphanet:213600 Orphanet:213589 uterine corpus mixed epithelial and mesenchymal neoplasm +MONDO:0002882 colon neuroendocrine neoplasm MONDO:0000001 Orphanet:100080 Orphanet:377788 disease +MONDO:0002955 vulva basal cell carcinoma MONDO:0005215 Orphanet:494451 Orphanet:494418 vulvar carcinoma +MONDO:0003011 mucinous tubular and spindle renal cell carcinoma MONDO:0000001 Orphanet:319322 Orphanet:377788 disease +MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0000001 Orphanet:100075 Orphanet:377788 disease +MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0000001 Orphanet:363489 Orphanet:377788 disease +MONDO:0003198 small intestine adenocarcinoma MONDO:0000001 Orphanet:104075 Orphanet:377788 disease +MONDO:0003258 hobnail hemangioma MONDO:0000001 Orphanet:675362 Orphanet:377788 disease +MONDO:0003345 hilar cholangiocarcinoma MONDO:0000001 Orphanet:99978 Orphanet:377788 disease +MONDO:0003345 hilar cholangiocarcinoma MONDO:0018918 Orphanet:99978 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract +MONDO:0003360 small intestine leiomyosarcoma MONDO:0000001 Orphanet:104076 Orphanet:377788 disease +MONDO:0003414 skin pilomatrix carcinoma MONDO:0000001 Orphanet:499182 Orphanet:377788 disease +MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0000001 Orphanet:145 Orphanet:377788 disease +MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0000001 Orphanet:424073 Orphanet:377788 disease +MONDO:0003646 rectum neuroendocrine neoplasm MONDO:0000001 Orphanet:100081 Orphanet:377788 disease +MONDO:0003649 esophageal neuroendocrine tumor MONDO:0000001 Orphanet:506136 Orphanet:377788 disease +MONDO:0003669 testicular seminoma MONDO:0000001 Orphanet:842 Orphanet:377788 disease +MONDO:0003669 testicular seminoma MONDO:0010108 Orphanet:842 Orphanet:363504 testicular germ cell tumor +MONDO:0003789 hereditary papillary renal cell carcinoma MONDO:0000001 Orphanet:47044 Orphanet:377788 disease +MONDO:0003792 ovarian carcinosarcoma MONDO:0000001 Orphanet:213512 Orphanet:377788 disease +MONDO:0003792 ovarian carcinosarcoma MONDO:0018364 Orphanet:213512 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0003795 ovarian small cell carcinoma MONDO:0000001 Orphanet:370396 Orphanet:377788 disease +MONDO:0003999 juvenile pilocytic astrocytoma MONDO:0016691 Orphanet:673580 Orphanet:251612 pilocytic astrocytoma +MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO:0000001 Orphanet:284400 Orphanet:377788 disease +MONDO:0004132 anal canal squamous cell carcinoma MONDO:0000001 Orphanet:424019 Orphanet:377788 disease +MONDO:0004150 breast giant fibroadenoma MONDO:0000001 Orphanet:180267 Orphanet:377788 disease +MONDO:0004187 nodular fasciitis MONDO:0000001 Orphanet:477742 Orphanet:377788 disease +MONDO:0004216 pineal region germinoma MONDO:0015935 Orphanet:91352 Orphanet:182127 extragonadal germinoma +MONDO:0004234 chronic lymphoproliferative disorder of NK-cells MONDO:0000001 Orphanet:512017 Orphanet:377788 disease +MONDO:0004241 Osgood-Schlatter disease MONDO:0000001 Orphanet:97335 Orphanet:377788 disease +MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma MONDO:0000001 Orphanet:424058 Orphanet:377788 disease +MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO:0000001 Orphanet:506075 Orphanet:377788 disease +MONDO:0004351 intraocular lymphoma MONDO:0000001 Orphanet:279904 Orphanet:377788 disease +MONDO:0004380 dendritic cell sarcoma MONDO:0000001 Orphanet:86903 Orphanet:377788 disease +MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant MONDO:0000001 Orphanet:213833 Orphanet:377788 disease +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0000001 Orphanet:98824 Orphanet:377788 disease +MONDO:0004672 fasciolopsiasis MONDO:0000001 Orphanet:658909 Orphanet:377788 disease +MONDO:0004684 plantar fibromatosis MONDO:0000001 Orphanet:199251 Orphanet:377788 disease +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0000001 Orphanet:730 Orphanet:377788 disease +MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0019741 Orphanet:730 Orphanet:93587 familial cystic renal disease +MONDO:0004772 glaucomatocyclitic crisis MONDO:0000001 Orphanet:636950 Orphanet:377788 disease +MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0000001 Orphanet:67038 Orphanet:377788 disease +MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0000001 Orphanet:502363 Orphanet:377788 disease +MONDO:0004959 plasma cell neoplasm MONDO:0015757 Orphanet:98282 Orphanet:171898 lymphoid hemopathy +MONDO:0004976 amyotrophic lateral sclerosis MONDO:0000001 Orphanet:803 Orphanet:377788 disease +MONDO:0004977 angioimmunoblastic T-cell lymphoma MONDO:0000001 Orphanet:86886 Orphanet:377788 disease +MONDO:0004977 angioimmunoblastic T-cell lymphoma MONDO:0015760 Orphanet:86886 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0005005 clear cell renal carcinoma MONDO:0000001 Orphanet:319276 Orphanet:377788 disease +MONDO:0005005 clear cell renal carcinoma MONDO:0005086 Orphanet:319276 Orphanet:217071 renal cell carcinoma +MONDO:0005006 clear cell sarcoma of kidney MONDO:0000001 Orphanet:457246 Orphanet:377788 disease +MONDO:0005021 dilated cardiomyopathy MONDO:0004994 Orphanet:217604 Orphanet:167848 cardiomyopathy +MONDO:0005028 esophageal adenocarcinoma MONDO:0000001 Orphanet:99976 Orphanet:377788 disease +MONDO:0005029 essential thrombocythemia MONDO:0000001 Orphanet:3318 Orphanet:377788 disease +MONDO:0005033 ganglioneuroma MONDO:0000001 Orphanet:251992 Orphanet:377788 disease +MONDO:0005035 ganglioneuroblastoma MONDO:0000001 Orphanet:251877 Orphanet:377788 disease +MONDO:0005045 hypertrophic cardiomyopathy MONDO:0004994 Orphanet:217569 Orphanet:167848 cardiomyopathy +MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0000001 Orphanet:97279 Orphanet:377788 disease +MONDO:0005055 Kaposi's sarcoma MONDO:0000001 Orphanet:33276 Orphanet:377788 disease +MONDO:0005055 Kaposi's sarcoma MONDO:0018078 Orphanet:33276 Orphanet:3394 soft tissue sarcoma +MONDO:0005058 leiomyosarcoma MONDO:0000001 Orphanet:64720 Orphanet:377788 disease +MONDO:0005060 liposarcoma MONDO:0000001 Orphanet:69078 Orphanet:377788 disease +MONDO:0005072 neuroblastoma MONDO:0000001 Orphanet:635 Orphanet:377788 disease +MONDO:0005077 pertussis MONDO:0000001 Orphanet:1489 Orphanet:377788 disease +MONDO:0005081 preeclampsia MONDO:0000001 Orphanet:275555 Orphanet:377788 disease +MONDO:0005091 severe acute respiratory syndrome MONDO:0000001 Orphanet:140896 Orphanet:377788 disease +MONDO:0005100 systemic sclerosis MONDO:0000001 Orphanet:90291 Orphanet:377788 disease +MONDO:0005115 temporal lobe epilepsy MONDO:0000001 Orphanet:98819 Orphanet:377788 disease +MONDO:0005116 Whipple disease MONDO:0000001 Orphanet:3452 Orphanet:377788 disease +MONDO:0005124 leprosy MONDO:0000001 Orphanet:548 Orphanet:377788 disease +MONDO:0005136 malaria MONDO:0000001 Orphanet:673 Orphanet:377788 disease +MONDO:0005153 cervical adenocarcinoma MONDO:0000001 Orphanet:213772 Orphanet:377788 disease +MONDO:0005164 fibrosarcoma MONDO:0000001 Orphanet:2030 Orphanet:377788 disease +MONDO:0005198 vulvar intraepithelial neoplasia MONDO:0000001 Orphanet:137583 Orphanet:377788 disease +MONDO:0005201 restrictive cardiomyopathy MONDO:0004994 Orphanet:217632 Orphanet:167848 cardiomyopathy +MONDO:0005212 rhabdomyosarcoma MONDO:0000001 Orphanet:780 Orphanet:377788 disease +MONDO:0005215 vulvar carcinoma MONDO:0000001 Orphanet:494418 Orphanet:377788 disease +MONDO:0005220 collecting duct carcinoma MONDO:0000001 Orphanet:247203 Orphanet:377788 disease +MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0000001 Orphanet:98832 Orphanet:377788 disease +MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0000001 Orphanet:98833 Orphanet:377788 disease +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0000001 Orphanet:98826 Orphanet:377788 disease +MONDO:0005313 necrotizing enterocolitis MONDO:0000001 Orphanet:391673 Orphanet:377788 disease +MONDO:0005321 Fuchs' endothelial dystrophy MONDO:0000001 Orphanet:98974 Orphanet:377788 disease +MONDO:0005342 IgA glomerulonephritis MONDO:0000001 Orphanet:34145 Orphanet:377788 disease +MONDO:0005342 IgA glomerulonephritis MONDO:0019722 Orphanet:34145 Orphanet:93548 glomerular disorder +MONDO:0005388 primary biliary cholangitis MONDO:0000001 Orphanet:186 Orphanet:377788 disease +MONDO:0005440 embryonal carcinoma MONDO:0000001 Orphanet:180226 Orphanet:377788 disease +MONDO:0005440 embryonal carcinoma MONDO:0020539 Orphanet:180226 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0005459 human African trypanosomiasis MONDO:0000001 Orphanet:3385 Orphanet:377788 disease +MONDO:0005498 botulism MONDO:0000001 Orphanet:1267 Orphanet:377788 disease +MONDO:0005502 dengue disease MONDO:0000001 Orphanet:99828 Orphanet:377788 disease +MONDO:0005504 diphtheria MONDO:0000001 Orphanet:1679 Orphanet:377788 disease +MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0000001 Orphanet:251946 Orphanet:377788 disease +MONDO:0005508 hereditary multiple osteochondromas MONDO:0000001 Orphanet:321 Orphanet:377788 disease +MONDO:0005512 malignant peritoneal mesothelioma MONDO:0000001 Orphanet:168811 Orphanet:377788 disease +MONDO:0005526 tetanus MONDO:0000001 Orphanet:3299 Orphanet:377788 disease +MONDO:0005563 nut midline carcinoma MONDO:0000001 Orphanet:443167 Orphanet:377788 disease +MONDO:0005571 polycythemia MONDO:0005570 Orphanet:98427 Orphanet:97992 hematologic disorder +MONDO:0005580 esophageal squamous cell carcinoma MONDO:0000001 Orphanet:99977 Orphanet:377788 disease +MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0000001 Orphanet:494550 Orphanet:377788 disease +MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0000001 Orphanet:398961 Orphanet:377788 disease +MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0018364 Orphanet:398961 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0005615 plasmacytoma MONDO:0000001 Orphanet:86855 Orphanet:377788 disease +MONDO:0005619 typhoid fever MONDO:0000001 Orphanet:99745 Orphanet:377788 disease +MONDO:0005620 cerebral amyloid angiopathy MONDO:0000001 Orphanet:85458 Orphanet:377788 disease +MONDO:0005620 cerebral amyloid angiopathy MONDO:0019065 Orphanet:85458 Orphanet:69 amyloidosis +MONDO:0005629 Acanthamoeba keratitis MONDO:0000001 Orphanet:67043 Orphanet:377788 disease +MONDO:0005631 actinomycosis MONDO:0000001 Orphanet:457095 Orphanet:377788 disease +MONDO:0005645 ancylostomiasis MONDO:0000001 Orphanet:78 Orphanet:377788 disease +MONDO:0005657 aspergillosis MONDO:0000001 Orphanet:1163 Orphanet:377788 disease +MONDO:0005661 babesiosis MONDO:0000001 Orphanet:108 Orphanet:377788 disease +MONDO:0005662 balantidiasis MONDO:0000001 Orphanet:1223 Orphanet:377788 disease +MONDO:0005668 bird fancier's lung MONDO:0000001 Orphanet:99908 Orphanet:377788 disease +MONDO:0005674 bone giant cell tumor MONDO:0000001 Orphanet:363976 Orphanet:377788 disease +MONDO:0005683 brucellosis MONDO:0000001 Orphanet:1304 Orphanet:377788 disease +MONDO:0005692 cat-scratch disease MONDO:0000001 Orphanet:50839 Orphanet:377788 disease +MONDO:0005696 central nervous system tuberculosis MONDO:0000001 Orphanet:641396 Orphanet:377788 disease +MONDO:0005696 central nervous system tuberculosis MONDO:0018076 Orphanet:641396 Orphanet:3389 tuberculosis +MONDO:0005696 central nervous system tuberculosis MONDO:0020010 Orphanet:641396 Orphanet:98010 infectious disorder of the nervous system +MONDO:0005705 clonorchiasis MONDO:0000001 Orphanet:658917 Orphanet:377788 disease +MONDO:0005706 coccidioidomycosis MONDO:0000001 Orphanet:228123 Orphanet:377788 disease +MONDO:0005708 Colorado tick fever MONDO:0000001 Orphanet:83595 Orphanet:377788 disease +MONDO:0005710 composite lymphoma MONDO:0000001 Orphanet:168966 Orphanet:377788 disease +MONDO:0005714 congenital syphilis MONDO:0000001 Orphanet:499009 Orphanet:377788 disease +MONDO:0005715 congenital toxoplasmosis MONDO:0000001 Orphanet:858 Orphanet:377788 disease +MONDO:0005724 cryptococcosis MONDO:0000001 Orphanet:1546 Orphanet:377788 disease +MONDO:0005725 cyclosporiasis MONDO:0000001 Orphanet:210 Orphanet:377788 disease +MONDO:0005736 eastern equine encephalitis MONDO:0000001 Orphanet:83594 Orphanet:377788 disease +MONDO:0005737 Ebola hemorrhagic fever MONDO:0000001 Orphanet:319218 Orphanet:377788 disease +MONDO:0005744 yolk sac tumor MONDO:0000001 Orphanet:876 Orphanet:377788 disease +MONDO:0005744 yolk sac tumor MONDO:0020539 Orphanet:876 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0005761 filarial elephantiasis MONDO:0000001 Orphanet:2035 Orphanet:377788 disease +MONDO:0005764 follicular dendritic cell sarcoma MONDO:0000001 Orphanet:86902 Orphanet:377788 disease +MONDO:0005769 geniculate herpes zoster MONDO:0000001 Orphanet:3020 Orphanet:377788 disease +MONDO:0005773 Gerstmann syndrome MONDO:0000001 Orphanet:221117 Orphanet:377788 disease +MONDO:0005774 glanders MONDO:0000001 Orphanet:659908 Orphanet:377788 disease +MONDO:0005789 hepatitis D virus infection MONDO:0000001 Orphanet:402823 Orphanet:377788 disease +MONDO:0005802 hymenolepiasis MONDO:0000001 Orphanet:401 Orphanet:377788 disease +MONDO:0005820 Lassa fever MONDO:0000001 Orphanet:99824 Orphanet:377788 disease +MONDO:0005820 Lassa fever MONDO:0018087 Orphanet:99824 Orphanet:341 viral hemorrhagic fever +MONDO:0005823 legionellosis MONDO:0000001 Orphanet:549 Orphanet:377788 disease +MONDO:0005825 leptospirosis MONDO:0000001 Orphanet:509 Orphanet:377788 disease +MONDO:0005828 listeriosis MONDO:0000001 Orphanet:533 Orphanet:377788 disease +MONDO:0005835 Lynch syndrome MONDO:0000001 Orphanet:144 Orphanet:377788 disease +MONDO:0005838 mansonelliasis MONDO:0000001 Orphanet:2459 Orphanet:377788 disease +MONDO:0005846 microsporidiosis MONDO:0000001 Orphanet:2552 Orphanet:377788 disease +MONDO:0005851 Miller Fisher syndrome MONDO:0000001 Orphanet:98919 Orphanet:377788 disease +MONDO:0005854 mixed connective tissue disease MONDO:0000001 Orphanet:809 Orphanet:377788 disease +MONDO:0005888 ornithosis MONDO:0000001 Orphanet:660053 Orphanet:377788 disease +MONDO:0005893 pancreatic endocrine carcinoma MONDO:0000001 Orphanet:506098 Orphanet:377788 disease +MONDO:0005894 paracoccidioidomycosis MONDO:0000001 Orphanet:73260 Orphanet:377788 disease +MONDO:0005895 paragonimiasis MONDO:0000001 Orphanet:658913 Orphanet:377788 disease +MONDO:0005916 placenta accreta MONDO:0000001 Orphanet:662721 Orphanet:377788 disease +MONDO:0005933 pulmonary blastoma MONDO:0000001 Orphanet:64741 Orphanet:377788 disease +MONDO:0005942 Reye syndrome MONDO:0000001 Orphanet:3096 Orphanet:377788 disease +MONDO:0005968 sporotrichosis MONDO:0000001 Orphanet:826 Orphanet:377788 disease +MONDO:0005969 st. Louis encephalitis MONDO:0000001 Orphanet:83484 Orphanet:377788 disease +MONDO:0005969 st. Louis encephalitis MONDO:0006009 Orphanet:83484 Orphanet:98252 viral encephalitis +MONDO:0005974 strongyloidiasis MONDO:0000001 Orphanet:76 Orphanet:377788 disease +MONDO:0005979 thoracic outlet syndrome MONDO:0000001 Orphanet:97330 Orphanet:377788 disease +MONDO:0005988 toxocariasis MONDO:0000001 Orphanet:3343 Orphanet:377788 disease +MONDO:0005991 trench fever MONDO:0000001 Orphanet:64694 Orphanet:377788 disease +MONDO:0006009 viral encephalitis MONDO:0019956 Orphanet:98252 Orphanet:97275 encephalitis +MONDO:0006009 viral encephalitis MONDO:0020010 Orphanet:98252 Orphanet:98010 infectious disorder of the nervous system +MONDO:0006033 diffuse intrinsic pontine glioma MONDO:0000001 Orphanet:497188 Orphanet:377788 disease +MONDO:0006043 metaplastic breast carcinoma MONDO:0000001 Orphanet:213531 Orphanet:377788 disease +MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0000001 Orphanet:398971 Orphanet:377788 disease +MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0018364 Orphanet:398971 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0006079 ameloblastic carcinoma MONDO:0000001 Orphanet:314422 Orphanet:377788 disease +MONDO:0006131 cerebellar liponeurocytoma MONDO:0000001 Orphanet:251931 Orphanet:377788 disease +MONDO:0006132 cervical adenoid basal carcinoma MONDO:0000001 Orphanet:213828 Orphanet:377788 disease +MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0000001 Orphanet:213823 Orphanet:377788 disease +MONDO:0006143 cervical squamous cell carcinoma MONDO:0000001 Orphanet:213767 Orphanet:377788 disease +MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0000001 Orphanet:71274 Orphanet:377788 disease +MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0000001 Orphanet:401920 Orphanet:377788 disease +MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0018531 Orphanet:401920 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract +MONDO:0006230 gastric squamous cell carcinoma MONDO:0000001 Orphanet:418959 Orphanet:377788 disease +MONDO:0006248 hydatidiform mole MONDO:0000001 Orphanet:99927 Orphanet:377788 disease +MONDO:0006260 kidney medullary carcinoma MONDO:0000001 Orphanet:319319 Orphanet:377788 disease +MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0000001 Orphanet:538 Orphanet:377788 disease +MONDO:0006292 malignant mesothelioma MONDO:0000001 Orphanet:50251 Orphanet:377788 disease +MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0000001 Orphanet:454723 Orphanet:377788 disease +MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0018364 Orphanet:454723 Orphanet:398934 malignant epithelial tumor of ovary +MONDO:0006339 ovarian microcystic stromal tumor MONDO:0000001 Orphanet:569248 Orphanet:377788 disease +MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0000001 Orphanet:424046 Orphanet:377788 disease +MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO:0000001 Orphanet:595133 Orphanet:377788 disease +MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0000001 Orphanet:168816 Orphanet:377788 disease +MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0000001 Orphanet:251919 Orphanet:377788 disease +MONDO:0006372 pituicytoma MONDO:0000001 Orphanet:251623 Orphanet:377788 disease +MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0000001 Orphanet:178544 Orphanet:377788 disease +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy MONDO:0000001 Orphanet:158014 Orphanet:377788 disease +MONDO:0006447 testicular non-seminomatous germ cell tumor MONDO:0000001 Orphanet:363494 Orphanet:377788 disease +MONDO:0006451 thymic carcinoma MONDO:0000001 Orphanet:99868 Orphanet:377788 disease +MONDO:0006456 thymoma MONDO:0000001 Orphanet:99867 Orphanet:377788 disease +MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0000001 Orphanet:142 Orphanet:377788 disease +MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0000001 Orphanet:424080 Orphanet:377788 disease +MONDO:0006486 uveal melanoma MONDO:0000001 Orphanet:39044 Orphanet:377788 disease +MONDO:0006558 pemphigoid gestationis MONDO:0000001 Orphanet:63275 Orphanet:377788 disease +MONDO:0006558 pemphigoid gestationis MONDO:0019337 Orphanet:63275 Orphanet:79669 autoimmune bullous skin disease +MONDO:0006583 necrobiosis lipoidica MONDO:0000001 Orphanet:542592 Orphanet:377788 disease +MONDO:0006606 scleredema adultorum MONDO:0000001 Orphanet:352763 Orphanet:377788 disease +MONDO:0006614 subcorneal pustular dermatosis MONDO:0000001 Orphanet:48377 Orphanet:377788 disease +MONDO:0006639 adrenal cortex carcinoma MONDO:0000001 Orphanet:1501 Orphanet:377788 disease +MONDO:0006639 adrenal cortex carcinoma MONDO:0021227 Orphanet:1501 Orphanet:100091 adrenal gland neoplasm +MONDO:0006687 burning mouth syndrome MONDO:0000001 Orphanet:353253 Orphanet:377788 disease +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0000001 Orphanet:2932 Orphanet:377788 disease +MONDO:0006745 endometrioid stromal sarcoma MONDO:0000001 Orphanet:213711 Orphanet:377788 disease +MONDO:0006806 intermediate uveitis MONDO:0000001 Orphanet:279914 Orphanet:377788 disease +MONDO:0006825 kuru MONDO:0000001 Orphanet:454745 Orphanet:377788 disease +MONDO:0006851 meconium aspiration syndrome MONDO:0000001 Orphanet:70588 Orphanet:377788 disease +MONDO:0006861 myeloid sarcoma MONDO:0000001 Orphanet:86850 Orphanet:377788 disease +MONDO:0006908 pituitary apoplexy MONDO:0000001 Orphanet:95613 Orphanet:377788 disease +MONDO:0006913 pneumococcal meningitis MONDO:0000001 Orphanet:55655 Orphanet:377788 disease +MONDO:0006913 pneumococcal meningitis MONDO:0020010 Orphanet:55655 Orphanet:98010 infectious disorder of the nervous system +MONDO:0006941 rat-bite fever MONDO:0000001 Orphanet:31205 Orphanet:377788 disease +MONDO:0006952 retinopathy of prematurity MONDO:0000001 Orphanet:90050 Orphanet:377788 disease +MONDO:0006976 somatostatinoma MONDO:0000001 Orphanet:97283 Orphanet:377788 disease +MONDO:0007012 variant Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:576370 Orphanet:377788 disease +MONDO:0007031 familial abdominal aortic aneurysm MONDO:0000001 Orphanet:86 Orphanet:377788 disease +MONDO:0007037 Achondroplasia MONDO:0000001 Orphanet:15 Orphanet:377788 disease +MONDO:0007039 NF2-related schwannomatosis MONDO:0000001 Orphanet:637 Orphanet:377788 disease +MONDO:0007041 Apert syndrome MONDO:0015338 Orphanet:87 Orphanet:139393 syndromic craniosynostosis +MONDO:0007042 Saethre-Chotzen syndrome MONDO:0015338 Orphanet:794 Orphanet:139393 syndromic craniosynostosis +MONDO:0007043 Pfeiffer syndrome MONDO:0015338 Orphanet:710 Orphanet:139393 syndromic craniosynostosis +MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0000001 Orphanet:38 Orphanet:377788 disease +MONDO:0007048 acrokeratosis verruciformis MONDO:0000001 Orphanet:79151 Orphanet:377788 disease +MONDO:0007057 Acroosteolysis dominant type MONDO:0019707 Orphanet:955 Orphanet:93449 primary osteolysis +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0000001 Orphanet:277 Orphanet:377788 disease +MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0000001 Orphanet:46 Orphanet:377788 disease +MONDO:0007070 adiposis dolorosa MONDO:0000001 Orphanet:36397 Orphanet:377788 disease +MONDO:0007078 pseudohypoparathyroidism type 1A MONDO:0000001 Orphanet:79443 Orphanet:377788 disease +MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0000001 Orphanet:403 Orphanet:377788 disease +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0000001 Orphanet:1010 Orphanet:377788 disease +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0000001 Orphanet:1008 Orphanet:377788 disease +MONDO:0007097 Finnish type amyloidosis MONDO:0000001 Orphanet:85448 Orphanet:377788 disease +MONDO:0007097 Finnish type amyloidosis MONDO:0019065 Orphanet:85448 Orphanet:69 amyloidosis +MONDO:0007099 familial visceral amyloidosis MONDO:0000001 Orphanet:85450 Orphanet:377788 disease +MONDO:0007099 familial visceral amyloidosis MONDO:0019065 Orphanet:85450 Orphanet:69 amyloidosis +MONDO:0007100 familial amyloid neuropathy MONDO:0000001 Orphanet:271861 Orphanet:377788 disease +MONDO:0007100 familial amyloid neuropathy MONDO:0019065 Orphanet:271861 Orphanet:69 amyloidosis +MONDO:0007101 familial primary localized cutaneous amyloidosis MONDO:0000001 Orphanet:353220 Orphanet:377788 disease +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:0000001 Orphanet:90020 Orphanet:377788 disease +MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO:0000001 Orphanet:98870 Orphanet:377788 disease +MONDO:0007116 hereditary neurocutaneous angioma MONDO:0000001 Orphanet:1062 Orphanet:377788 disease +MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0000001 Orphanet:468666 Orphanet:377788 disease +MONDO:0007137 isolated congenital anosmia MONDO:0000001 Orphanet:88620 Orphanet:377788 disease +MONDO:0007163 episodic ataxia type 2 MONDO:0000001 Orphanet:97 Orphanet:377788 disease +MONDO:0007164 spastic ataxia 1 MONDO:0000001 Orphanet:251282 Orphanet:377788 disease +MONDO:0007165 spastic ataxia 7 MONDO:0000001 Orphanet:1182 Orphanet:377788 disease +MONDO:0007174 Lown-Ganong-Levine syndrome MONDO:0000001 Orphanet:844 Orphanet:377788 disease +MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO:0000001 Orphanet:86813 Orphanet:377788 disease +MONDO:0007182 Machado-Joseph disease MONDO:0000001 Orphanet:98757 Orphanet:377788 disease +MONDO:0007191 Behcet disease MONDO:0000001 Orphanet:117 Orphanet:377788 disease +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome MONDO:0000001 Orphanet:1259 Orphanet:377788 disease +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0000001 Orphanet:85182 Orphanet:377788 disease +MONDO:0007208 Boomerang dysplasia MONDO:0000001 Orphanet:1263 Orphanet:377788 disease +MONDO:0007243 Burkitt lymphoma MONDO:0000001 Orphanet:543 Orphanet:377788 disease +MONDO:0007248 hereditary painful callosities MONDO:0000001 Orphanet:79141 Orphanet:377788 disease +MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0000001 Orphanet:363705 Orphanet:377788 disease +MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0016175 Orphanet:363705 Orphanet:209 cutis laxa +MONDO:0007269 dilated cardiomyopathy 1A MONDO:0000001 Orphanet:300751 Orphanet:377788 disease +MONDO:0007271 familial cutaneous collagenoma MONDO:0000001 Orphanet:53296 Orphanet:377788 disease +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency MONDO:0000001 Orphanet:199285 Orphanet:377788 disease +MONDO:0007294 central core myopathy MONDO:0000001 Orphanet:597 Orphanet:377788 disease +MONDO:0007295 childhood epilepsy with centrotemporal spikes MONDO:0000001 Orphanet:1945 Orphanet:377788 disease +MONDO:0007296 spinocerebellar ataxia type 31 MONDO:0000001 Orphanet:217012 Orphanet:377788 disease +MONDO:0007298 spinocerebellar ataxia type 29 MONDO:0000001 Orphanet:208513 Orphanet:377788 disease +MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0000001 Orphanet:101082 Orphanet:377788 disease +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 MONDO:0000001 Orphanet:99946 Orphanet:377788 disease +MONDO:0007309 Charcot-Marie-Tooth disease type 1A MONDO:0000001 Orphanet:101081 Orphanet:377788 disease +MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0000001 Orphanet:90658 Orphanet:377788 disease +MONDO:0007313 cheilitis glandularis MONDO:0000001 Orphanet:1221 Orphanet:377788 disease +MONDO:0007319 chondrocalcinosis 2 MONDO:0000001 Orphanet:1416 Orphanet:377788 disease +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:0015775 Orphanet:79346 Orphanet:176 non-rhizomelic chondrodysplasia punctata +MONDO:0007330 congenital pseudoarthrosis of clavicle MONDO:0000001 Orphanet:66630 Orphanet:377788 disease +MONDO:0007368 familial benign copper deficiency MONDO:0000001 Orphanet:1551 Orphanet:377788 disease +MONDO:0007369 hereditary coproporphyria MONDO:0000001 Orphanet:79273 Orphanet:377788 disease +MONDO:0007374 Schnyder corneal dystrophy MONDO:0000001 Orphanet:98967 Orphanet:377788 disease +MONDO:0007375 epithelial basement membrane dystrophy MONDO:0000001 Orphanet:98956 Orphanet:377788 disease +MONDO:0007376 fleck corneal dystrophy MONDO:0000001 Orphanet:98970 Orphanet:377788 disease +MONDO:0007377 granular corneal dystrophy type I MONDO:0000001 Orphanet:98962 Orphanet:377788 disease +MONDO:0007379 Meesmann corneal dystrophy MONDO:0000001 Orphanet:98954 Orphanet:377788 disease +MONDO:0007380 lattice corneal dystrophy type I MONDO:0000001 Orphanet:98964 Orphanet:377788 disease +MONDO:0007380 lattice corneal dystrophy type I MONDO:0020213 Orphanet:98964 Orphanet:98626 stromal corneal dystrophy +MONDO:0007381 epithelial recurrent erosion dystrophy MONDO:0000001 Orphanet:293381 Orphanet:377788 disease +MONDO:0007384 congenital trigeminal anesthesia MONDO:0000001 Orphanet:231013 Orphanet:377788 disease +MONDO:0007385 idiopathic spontaneous coronary artery dissection MONDO:0000001 Orphanet:458718 Orphanet:377788 disease +MONDO:0007400 Jackson-Weiss syndrome MONDO:0015338 Orphanet:1540 Orphanet:139393 syndromic craniosynostosis +MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:282166 Orphanet:377788 disease +MONDO:0007407 Cryoglobulinemic vasculitis MONDO:0000001 Orphanet:91138 Orphanet:377788 disease +MONDO:0007417 Darier disease MONDO:0000001 Orphanet:218 Orphanet:377788 disease +MONDO:0007422 keratoderma hereditarium mutilans MONDO:0000001 Orphanet:494 Orphanet:377788 disease +MONDO:0007434 primary failure of tooth eruption MONDO:0000001 Orphanet:412206 Orphanet:377788 disease +MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0000001 Orphanet:101 Orphanet:377788 disease +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome MONDO:0000001 Orphanet:99792 Orphanet:377788 disease +MONDO:0007445 dermatopathia pigmentosa reticularis MONDO:0000001 Orphanet:86920 Orphanet:377788 disease +MONDO:0007447 autosomal dominant vibratory urticaria MONDO:0000001 Orphanet:493342 Orphanet:377788 disease +MONDO:0007471 Doyne honeycomb retinal dystrophy MONDO:0000001 Orphanet:75376 Orphanet:377788 disease +MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0000001 Orphanet:41 Orphanet:377788 disease +MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO:0000001 Orphanet:352657 Orphanet:377788 disease +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0000001 Orphanet:256 Orphanet:377788 disease +MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:0000476 Orphanet:256 Orphanet:376724 generalized dystonia +MONDO:0007493 torsion dystonia 4 MONDO:0000001 Orphanet:98805 Orphanet:377788 disease +MONDO:0007496 dystonia 12 MONDO:0000001 Orphanet:71517 Orphanet:377788 disease +MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO:0000001 Orphanet:1658 Orphanet:377788 disease +MONDO:0007510 Clouston syndrome MONDO:0000001 Orphanet:189 Orphanet:377788 disease +MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0000001 Orphanet:287 Orphanet:377788 disease +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0000001 Orphanet:285 Orphanet:377788 disease +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type MONDO:0000001 Orphanet:1899 Orphanet:377788 disease +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type MONDO:0000001 Orphanet:75392 Orphanet:377788 disease +MONDO:0007529 elastosis perforans serpiginosa MONDO:0000001 Orphanet:79148 Orphanet:377788 disease +MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0000001 Orphanet:652 Orphanet:377788 disease +MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0000001 Orphanet:79411 Orphanet:377788 disease +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0000001 Orphanet:231568 Orphanet:377788 disease +MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe MONDO:0000001 Orphanet:79396 Orphanet:377788 disease +MONDO:0007551 epidermolysis bullosa simplex 1C, localized MONDO:0000001 Orphanet:79400 Orphanet:377788 disease +MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0000001 Orphanet:79399 Orphanet:377788 disease +MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type MONDO:0000001 Orphanet:79401 Orphanet:377788 disease +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0000001 Orphanet:79397 Orphanet:377788 disease +MONDO:0007558 self-limited childhood occipital epilepsy MONDO:0000001 Orphanet:25968 Orphanet:377788 disease +MONDO:0007560 reading seizures MONDO:0000001 Orphanet:166433 Orphanet:377788 disease +MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0000001 Orphanet:93308 Orphanet:377788 disease +MONDO:0007564 pilomatrixoma MONDO:0000001 Orphanet:91414 Orphanet:377788 disease +MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0000001 Orphanet:65748 Orphanet:377788 disease +MONDO:0007570 erythema palmare hereditarium MONDO:0000001 Orphanet:231031 Orphanet:377788 disease +MONDO:0007571 primary erythermalgia MONDO:0000001 Orphanet:90026 Orphanet:377788 disease +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0000001 Orphanet:90042 Orphanet:377788 disease +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0005571 Orphanet:90042 Orphanet:98427 polycythemia +MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0000001 Orphanet:1955 Orphanet:377788 disease +MONDO:0007592 familial recurrent peripheral facial palsy MONDO:0000001 Orphanet:2809 Orphanet:377788 disease +MONDO:0007600 primary Fanconi syndrome MONDO:0000001 Orphanet:3337 Orphanet:377788 disease +MONDO:0007600 primary Fanconi syndrome MONDO:0015962 Orphanet:3337 Orphanet:183592 inherited renal tubular disease +MONDO:0007603 Felty syndrome MONDO:0000001 Orphanet:47612 Orphanet:377788 disease +MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0000001 Orphanet:337 Orphanet:377788 disease +MONDO:0007608 desmoid tumor MONDO:0000001 Orphanet:873 Orphanet:377788 disease +MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0000001 Orphanet:45358 Orphanet:377788 disease +MONDO:0007619 isolated congenital adermatoglyphia MONDO:0000001 Orphanet:289465 Orphanet:377788 disease +MONDO:0007624 Flynn-Aird syndrome MONDO:0000001 Orphanet:2047 Orphanet:377788 disease +MONDO:0007626 familial congenital palsy of trochlear nerve MONDO:0000001 Orphanet:91498 Orphanet:377788 disease +MONDO:0007630 North Carolina macular dystrophy MONDO:0000001 Orphanet:75327 Orphanet:377788 disease +MONDO:0007635 Frasier syndrome MONDO:0000001 Orphanet:347 Orphanet:377788 disease +MONDO:0007639 fundus albipunctatus MONDO:0000001 Orphanet:227796 Orphanet:377788 disease +MONDO:0007640 Sorsby fundus dystrophy MONDO:0000001 Orphanet:59181 Orphanet:377788 disease +MONDO:0007646 Gamstorp-Wohlfart syndrome MONDO:0000001 Orphanet:324442 Orphanet:377788 disease +MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0000001 Orphanet:26106 Orphanet:377788 disease +MONDO:0007650 MALT lymphoma MONDO:0000001 Orphanet:52417 Orphanet:377788 disease +MONDO:0007651 gastrocutaneous syndrome MONDO:0000001 Orphanet:2069 Orphanet:377788 disease +MONDO:0007652 gastric mucosal hypertrophy MONDO:0000001 Orphanet:2494 Orphanet:377788 disease +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:0000001 Orphanet:356 Orphanet:377788 disease +MONDO:0007660 familial ossifying fibroma MONDO:0000001 Orphanet:435329 Orphanet:377788 disease +MONDO:0007660 familial ossifying fibroma MONDO:0019060 Orphanet:435329 Orphanet:68411 bone neoplasm +MONDO:0007666 glaucoma-sleep apnea syndrome MONDO:0000001 Orphanet:2085 Orphanet:377788 disease +MONDO:0007667 subependymoma MONDO:0000001 Orphanet:251639 Orphanet:377788 disease +MONDO:0007667 subependymoma MONDO:0003266 Orphanet:251639 Orphanet:301 ependymal tumor +MONDO:0007669 renal cysts and diabetes syndrome MONDO:0015967 Orphanet:93111 Orphanet:183625 monogenic diabetes +MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) MONDO:0000001 Orphanet:69735 Orphanet:377788 disease +MONDO:0007671 fibronectin glomerulopathy MONDO:0000001 Orphanet:84090 Orphanet:377788 disease +MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0000001 Orphanet:276399 Orphanet:377788 disease +MONDO:0007686 gray platelet syndrome MONDO:0000001 Orphanet:721 Orphanet:377788 disease +MONDO:0007690 aromatase excess syndrome MONDO:0000001 Orphanet:178345 Orphanet:377788 disease +MONDO:0007700 hawkinsinuria MONDO:0000001 Orphanet:2118 Orphanet:377788 disease +MONDO:0007702 heart-hand syndrome type 3 MONDO:0015161 Orphanet:1342 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007702 heart-hand syndrome type 3 MONDO:0016432 Orphanet:1342 Orphanet:228184 heart-hand syndrome +MONDO:0007710 facial hemiatrophy MONDO:0000001 Orphanet:1214 Orphanet:377788 disease +MONDO:0007713 clonic hemifacial spasm MONDO:0000001 Orphanet:221083 Orphanet:377788 disease +MONDO:0007725 hereditary progressive mucinous histiocytosis MONDO:0000001 Orphanet:158025 Orphanet:377788 disease +MONDO:0007726 hip dysplasia, Beukes type MONDO:0000001 Orphanet:2114 Orphanet:377788 disease +MONDO:0007727 autosomal dominant familial periodic fever MONDO:0000001 Orphanet:32960 Orphanet:377788 disease +MONDO:0007735 congenital Horner syndrome MONDO:0000001 Orphanet:91413 Orphanet:377788 disease +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0000001 Orphanet:263463 Orphanet:377788 disease +MONDO:0007739 Huntington disease MONDO:0000001 Orphanet:399 Orphanet:377788 disease +MONDO:0007740 Wagner disease MONDO:0000001 Orphanet:898 Orphanet:377788 disease +MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0000001 Orphanet:79506 Orphanet:377788 disease +MONDO:0007747 isolated hyperchlorhidrosis MONDO:0000001 Orphanet:542657 Orphanet:377788 disease +MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0000001 Orphanet:409 Orphanet:377788 disease +MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0000001 Orphanet:1336 Orphanet:377788 disease +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0000001 Orphanet:2199 Orphanet:377788 disease +MONDO:0007765 hyperostosis cranialis interna MONDO:0000001 Orphanet:443098 Orphanet:377788 disease +MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0000001 Orphanet:99880 Orphanet:377788 disease +MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0000001 Orphanet:64748 Orphanet:377788 disease +MONDO:0007793 hypochondroplasia MONDO:0000001 Orphanet:429 Orphanet:377788 disease +MONDO:0007800 chromosome 18p deletion syndrome MONDO:0000001 Orphanet:1598 Orphanet:377788 disease +MONDO:0007803 multiple system atrophy MONDO:0000001 Orphanet:102 Orphanet:377788 disease +MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0000001 Orphanet:79503 Orphanet:377788 disease +MONDO:0007813 superficial epidermolytic ichthyosis MONDO:0000001 Orphanet:455 Orphanet:377788 disease +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0000001 Orphanet:2314 Orphanet:377788 disease +MONDO:0007827 inclusion body myositis MONDO:0000001 Orphanet:611 Orphanet:377788 disease +MONDO:0007841 coxopodopatellar syndrome MONDO:0000001 Orphanet:1509 Orphanet:377788 disease +MONDO:0007842 joint laxity, familial MONDO:0000001 Orphanet:2295 Orphanet:377788 disease +MONDO:0007848 autosomal dominant keratitis MONDO:0000001 Orphanet:2334 Orphanet:377788 disease +MONDO:0007849 keratitis fugax hereditaria MONDO:0000001 Orphanet:647815 Orphanet:377788 disease +MONDO:0007852 palmoplantar keratoderma-deafness syndrome MONDO:0000001 Orphanet:2202 Orphanet:377788 disease +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0000001 Orphanet:538574 Orphanet:377788 disease +MONDO:0007854 keratolytic winter erythema MONDO:0000001 Orphanet:50943 Orphanet:377788 disease +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0000001 Orphanet:2198 Orphanet:377788 disease +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome MONDO:0000001 Orphanet:86919 Orphanet:377788 disease +MONDO:0007860 focal palmoplantar and gingival keratoderma MONDO:0000001 Orphanet:2200 Orphanet:377788 disease +MONDO:0007863 Kleine-Levin syndrome MONDO:0000001 Orphanet:33543 Orphanet:377788 disease +MONDO:0007864 angioosteohypertrophic syndrome MONDO:0000001 Orphanet:90308 Orphanet:377788 disease +MONDO:0007866 Bart-Pumphrey syndrome MONDO:0000001 Orphanet:2698 Orphanet:377788 disease +MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome MONDO:0000001 Orphanet:652522 Orphanet:377788 disease +MONDO:0007885 Legg-Calve-Perthes disease MONDO:0000001 Orphanet:2380 Orphanet:377788 disease +MONDO:0007885 Legg-Calve-Perthes disease MONDO:0022800 Orphanet:2380 Orphanet:93421 type 2 collagenopathy +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0000001 Orphanet:523 Orphanet:377788 disease +MONDO:0007891 familial generalized lentiginosis MONDO:0000001 Orphanet:231040 Orphanet:377788 disease +MONDO:0007896 acute monocytic leukemia MONDO:0000001 Orphanet:514 Orphanet:377788 disease +MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0000001 Orphanet:2348 Orphanet:377788 disease +MONDO:0007908 multiple symmetric lipomatosis MONDO:0000001 Orphanet:2398 Orphanet:377788 disease +MONDO:0007909 familial multiple lipomatosis MONDO:0000001 Orphanet:199276 Orphanet:377788 disease +MONDO:0007915 systemic lupus erythematosus MONDO:0000001 Orphanet:536 Orphanet:377788 disease +MONDO:0007916 primary intestinal lymphangiectasia MONDO:0000001 Orphanet:90362 Orphanet:377788 disease +MONDO:0007919 lymphatic malformation 1 MONDO:0000001 Orphanet:79452 Orphanet:377788 disease +MONDO:0007920 lymphatic malformation 5 MONDO:0000001 Orphanet:90186 Orphanet:377788 disease +MONDO:0007921 yellow nail syndrome MONDO:0000001 Orphanet:662 Orphanet:377788 disease +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0000001 Orphanet:86841 Orphanet:377788 disease +MONDO:0007931 vitelliform macular dystrophy 2 MONDO:0000001 Orphanet:1243 Orphanet:377788 disease +MONDO:0007934 benign concentric annular macular dystrophy MONDO:0000001 Orphanet:251287 Orphanet:377788 disease +MONDO:0007935 cystoid macular edema MONDO:0000001 Orphanet:75381 Orphanet:377788 disease +MONDO:0007937 renal hypomagnesemia 2 MONDO:0000001 Orphanet:34528 Orphanet:377788 disease +MONDO:0007937 renal hypomagnesemia 2 MONDO:0015962 Orphanet:34528 Orphanet:183592 inherited renal tubular disease +MONDO:0007937 renal hypomagnesemia 2 MONDO:0017765 Orphanet:34528 Orphanet:309848 disorder of magnesium transport +MONDO:0007943 Nager acrofacial dysostosis MONDO:0018237 Orphanet:245 Orphanet:364574 acrofacial dysostosis +MONDO:0007946 jaw-winking syndrome MONDO:0000001 Orphanet:91412 Orphanet:377788 disease +MONDO:0007947 Marfan syndrome MONDO:0000001 Orphanet:558 Orphanet:377788 disease +MONDO:0007958 familial medullary thyroid carcinoma MONDO:0000001 Orphanet:99361 Orphanet:377788 disease +MONDO:0007958 familial medullary thyroid carcinoma MONDO:0015075 Orphanet:99361 Orphanet:100088 thyroid gland carcinoma +MONDO:0007959 medulloblastoma MONDO:0000001 Orphanet:616 Orphanet:377788 disease +MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0000001 Orphanet:252206 Orphanet:377788 disease +MONDO:0007982 metaphyseal chondrodysplasia, Jansen type MONDO:0000001 Orphanet:33067 Orphanet:377788 disease +MONDO:0007983 Schmid metaphyseal chondrodysplasia MONDO:0000001 Orphanet:174 Orphanet:377788 disease +MONDO:0007986 metatropic dysplasia MONDO:0000001 Orphanet:2635 Orphanet:377788 disease +MONDO:0007987 Kniest dysplasia MONDO:0000001 Orphanet:485 Orphanet:377788 disease +MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO:0000001 Orphanet:2505 Orphanet:377788 disease +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0000001 Orphanet:254892 Orphanet:377788 disease +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MONDO:0005181 Orphanet:254892 Orphanet:520820 progressive external ophthalmoplegia +MONDO:0008006 Mobius syndrome MONDO:0000001 Orphanet:570 Orphanet:377788 disease +MONDO:0008009 monilethrix MONDO:0000001 Orphanet:573 Orphanet:377788 disease +MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO:0000001 Orphanet:2579 Orphanet:377788 disease +MONDO:0008029 Bethlem myopathy MONDO:0000001 Orphanet:610 Orphanet:377788 disease +MONDO:0008039 tropical spastic paraparesis MONDO:0000001 Orphanet:289326 Orphanet:377788 disease +MONDO:0008040 transient myeloproliferative syndrome MONDO:0000001 Orphanet:420611 Orphanet:377788 disease +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0000001 Orphanet:2590 Orphanet:377788 disease +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0024257 Orphanet:2590 Orphanet:98505 hereditary motor neuron disease +MONDO:0008046 autosomal dominant myoglobinuria MONDO:0000001 Orphanet:99846 Orphanet:377788 disease +MONDO:0008047 episodic ataxia type 1 MONDO:0000001 Orphanet:37612 Orphanet:377788 disease +MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0000001 Orphanet:169189 Orphanet:377788 disease +MONDO:0008050 MYH7-related skeletal myopathy MONDO:0000001 Orphanet:59135 Orphanet:377788 disease +MONDO:0008051 tubular aggregate myopathy MONDO:0000001 Orphanet:2593 Orphanet:377788 disease +MONDO:0008054 juvenile dermatomyositis MONDO:0000001 Orphanet:93672 Orphanet:377788 disease +MONDO:0008056 myotonic dystrophy type 1 MONDO:0000001 Orphanet:273 Orphanet:377788 disease +MONDO:0008058 cylindrical spirals myopathy MONDO:0000001 Orphanet:171886 Orphanet:377788 disease +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0000001 Orphanet:69087 Orphanet:377788 disease +MONDO:0008060 nonsyndromic congenital nail disorder 1 MONDO:0000001 Orphanet:79153 Orphanet:377788 disease +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0000001 Orphanet:98904 Orphanet:377788 disease +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0016193 Orphanet:98904 Orphanet:209059 qualitative or quantitative defects of alpha-actin +MONDO:0008070 congenital myopathy 2a, typical, autosomal dominant MONDO:0019952 Orphanet:98904 Orphanet:97245 congenital myopathy +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension MONDO:0000001 Orphanet:88659 Orphanet:377788 disease +MONDO:0008075 schwannomatosis MONDO:0000001 Orphanet:93921 Orphanet:377788 disease +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0000001 Orphanet:228343 Orphanet:377788 disease +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0016295 Orphanet:228343 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0008090 cyclic hematopoiesis MONDO:0000001 Orphanet:2686 Orphanet:377788 disease +MONDO:0008092 hereditary neutrophilia MONDO:0000001 Orphanet:279943 Orphanet:377788 disease +MONDO:0008097 linear nevus sebaceous syndrome MONDO:0000001 Orphanet:2612 Orphanet:377788 disease +MONDO:0008109 ocular cicatricial pemphigoid MONDO:0000001 Orphanet:99922 Orphanet:377788 disease +MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:0000001 Orphanet:270 Orphanet:377788 disease +MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0000001 Orphanet:98755 Orphanet:377788 disease +MONDO:0008133 optic atrophy 3 MONDO:0000001 Orphanet:67036 Orphanet:377788 disease +MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0000001 Orphanet:98673 Orphanet:377788 disease +MONDO:0008142 Thiemann disease, familial form MONDO:0000001 Orphanet:3314 Orphanet:377788 disease +MONDO:0008145 Ollier disease MONDO:0000001 Orphanet:296 Orphanet:377788 disease +MONDO:0008146 osteogenesis imperfecta type 1 MONDO:0019019 Orphanet:216796 Orphanet:666 osteogenesis imperfecta +MONDO:0008147 osteogenesis imperfecta type 2 MONDO:0019019 Orphanet:216804 Orphanet:666 osteogenesis imperfecta +MONDO:0008148 osteogenesis imperfecta type 4 MONDO:0019019 Orphanet:216820 Orphanet:666 osteogenesis imperfecta +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:0017198 Orphanet:53 Orphanet:2781 osteopetrosis +MONDO:0008165 southeast Asian ovalocytosis MONDO:0000001 Orphanet:98868 Orphanet:377788 disease +MONDO:0008168 ovarian fibroma MONDO:0000001 Orphanet:314473 Orphanet:377788 disease +MONDO:0008177 extramammary Paget disease MONDO:0000001 Orphanet:2800 Orphanet:377788 disease +MONDO:0008179 paroxysmal extreme pain disorder MONDO:0000001 Orphanet:46348 Orphanet:377788 disease +MONDO:0008185 hereditary chronic pancreatitis MONDO:0000001 Orphanet:676 Orphanet:377788 disease +MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0000001 Orphanet:684 Orphanet:377788 disease +MONDO:0008199 late-onset Parkinson disease MONDO:0000001 Orphanet:411602 Orphanet:377788 disease +MONDO:0008201 Perry syndrome MONDO:0000001 Orphanet:178509 Orphanet:377788 disease +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia MONDO:0000001 Orphanet:1179 Orphanet:377788 disease +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0000001 Orphanet:99027 Orphanet:377788 disease +MONDO:0008218 Hailey-Hailey disease MONDO:0000001 Orphanet:2841 Orphanet:377788 disease +MONDO:0008219 pemphigus vulgaris MONDO:0000001 Orphanet:704 Orphanet:377788 disease +MONDO:0008219 pemphigus vulgaris MONDO:0019337 Orphanet:704 Orphanet:79669 autoimmune bullous skin disease +MONDO:0008221 prolidase deficiency MONDO:0000001 Orphanet:742 Orphanet:377788 disease +MONDO:0008222 Andersen-Tawil syndrome MONDO:0000001 Orphanet:37553 Orphanet:377788 disease +MONDO:0008222 Andersen-Tawil syndrome MONDO:0016122 Orphanet:37553 Orphanet:206976 periodic paralysis +MONDO:0008223 hypokalemic periodic paralysis MONDO:0000001 Orphanet:681 Orphanet:377788 disease +MONDO:0008223 hypokalemic periodic paralysis MONDO:0016122 Orphanet:681 Orphanet:206976 periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis MONDO:0000001 Orphanet:682 Orphanet:377788 disease +MONDO:0008224 hyperkalemic periodic paralysis MONDO:0016122 Orphanet:682 Orphanet:206976 periodic paralysis +MONDO:0008244 piebaldism MONDO:0000001 Orphanet:2884 Orphanet:377788 disease +MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO:0000001 Orphanet:251295 Orphanet:377788 disease +MONDO:0008251 familial pityriasis rubra pilaris MONDO:0000001 Orphanet:2897 Orphanet:377788 disease +MONDO:0008251 familial pityriasis rubra pilaris MONDO:0019270 Orphanet:2897 Orphanet:79355 erythrokeratoderma +MONDO:0008259 familial spontaneous pneumothorax MONDO:0000001 Orphanet:2903 Orphanet:377788 disease +MONDO:0008260 Kindler syndrome MONDO:0000001 Orphanet:2908 Orphanet:377788 disease +MONDO:0008261 hereditary sclerosing poikiloderma, Weary type MONDO:0000001 Orphanet:221039 Orphanet:377788 disease +MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0000001 Orphanet:34149 Orphanet:377788 disease +MONDO:0008273 actinic prurigo MONDO:0000001 Orphanet:330061 Orphanet:377788 disease +MONDO:0008275 familial expansile osteolysis MONDO:0000001 Orphanet:85195 Orphanet:377788 disease +MONDO:0008280 Peutz-Jeghers syndrome MONDO:0000001 Orphanet:2869 Orphanet:377788 disease +MONDO:0008283 Cronkhite-Canada syndrome MONDO:0000001 Orphanet:2930 Orphanet:377788 disease +MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0000001 Orphanet:36383 Orphanet:377788 disease +MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0000001 Orphanet:737 Orphanet:377788 disease +MONDO:0008292 punctate palmoplantar keratoderma type 2 MONDO:0000001 Orphanet:79502 Orphanet:377788 disease +MONDO:0008294 acute intermittent porphyria MONDO:0000001 Orphanet:79276 Orphanet:377788 disease +MONDO:0008297 variegate porphyria MONDO:0000001 Orphanet:79473 Orphanet:377788 disease +MONDO:0008300 Prader-Willi syndrome MONDO:0000001 Orphanet:739 Orphanet:377788 disease +MONDO:0008303 familial male-limited precocious puberty MONDO:0000001 Orphanet:3000 Orphanet:377788 disease +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0000001 Orphanet:740 Orphanet:377788 disease +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0015333 Orphanet:740 Orphanet:139033 progeroid syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0019303 Orphanet:740 Orphanet:79389 premature aging syndrome +MONDO:0008322 pseudoachondroplasia MONDO:0000001 Orphanet:750 Orphanet:377788 disease +MONDO:0008323 Liddle syndrome MONDO:0000001 Orphanet:526 Orphanet:377788 disease +MONDO:0008332 platelet-type von Willebrand disease MONDO:0000001 Orphanet:52530 Orphanet:377788 disease +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0017415 Orphanet:65743 Orphanet:294060 multiple pterygium syndrome +MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0000001 Orphanet:91411 Orphanet:377788 disease +MONDO:0008346 pulmonary hemosiderosis MONDO:0000001 Orphanet:99931 Orphanet:377788 disease +MONDO:0008348 pulmonary nodular lymphoid hyperplasia MONDO:0000001 Orphanet:60026 Orphanet:377788 disease +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy MONDO:0000001 Orphanet:64745 Orphanet:377788 disease +MONDO:0008369 proximal renal tubular acidosis MONDO:0000001 Orphanet:47159 Orphanet:377788 disease +MONDO:0008371 Dowling-Degos disease MONDO:0000001 Orphanet:79145 Orphanet:377788 disease +MONDO:0008373 retinal arterial tortuosity MONDO:0000001 Orphanet:75326 Orphanet:377788 disease +MONDO:0008380 retinoblastoma MONDO:0000001 Orphanet:790 Orphanet:377788 disease +MONDO:0008387 ring dermoid of cornea MONDO:0000001 Orphanet:91481 Orphanet:377788 disease +MONDO:0008388 ringed hair disease MONDO:0000001 Orphanet:169 Orphanet:377788 disease +MONDO:0008390 Rombo syndrome MONDO:0000001 Orphanet:3110 Orphanet:377788 disease +MONDO:0008392 Roussy-Levy syndrome MONDO:0000001 Orphanet:3115 Orphanet:377788 disease +MONDO:0008394 Silver-Russell syndrome MONDO:0000001 Orphanet:813 Orphanet:377788 disease +MONDO:0008397 aplasia of lacrimal and salivary glands MONDO:0000001 Orphanet:86815 Orphanet:377788 disease +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0000001 Orphanet:85146 Orphanet:377788 disease +MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0000001 Orphanet:431255 Orphanet:377788 disease +MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0024257 Orphanet:431255 Orphanet:98505 hereditary motor neuron disease +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome MONDO:0000001 Orphanet:384 Orphanet:377788 disease +MONDO:0008429 Singleton-Merten dysplasia MONDO:0700264 Orphanet:85191 Orphanet:477647 type 1 interferonopathy +MONDO:0008433 small cell lung carcinoma MONDO:0000001 Orphanet:70573 Orphanet:377788 disease +MONDO:0008436 Sneddon syndrome MONDO:0000001 Orphanet:820 Orphanet:377788 disease +MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0000001 Orphanet:100984 Orphanet:377788 disease +MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0000001 Orphanet:100985 Orphanet:377788 disease +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome MONDO:0000001 Orphanet:2821 Orphanet:377788 disease +MONDO:0008443 spastic paraplegia-precocious puberty syndrome MONDO:0000001 Orphanet:2826 Orphanet:377788 disease +MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0000001 Orphanet:139518 Orphanet:377788 disease +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO:0000001 Orphanet:209335 Orphanet:377788 disease +MONDO:0008457 spinocerebellar ataxia type 6 MONDO:0000001 Orphanet:98758 Orphanet:377788 disease +MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0000001 Orphanet:98756 Orphanet:377788 disease +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome MONDO:0000001 Orphanet:168443 Orphanet:377788 disease +MONDO:0008471 spondyloepiphyseal dysplasia congenita MONDO:0000001 Orphanet:94068 Orphanet:377788 disease +MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type MONDO:0000001 Orphanet:263482 Orphanet:377788 disease +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0000001 Orphanet:93346 Orphanet:377788 disease +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO:0000001 Orphanet:93314 Orphanet:377788 disease +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MONDO:0000001 Orphanet:93316 Orphanet:377788 disease +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0000001 Orphanet:93315 Orphanet:377788 disease +MONDO:0008485 sebocystomatosis MONDO:0000001 Orphanet:841 Orphanet:377788 disease +MONDO:0008491 stiff-person syndrome MONDO:0000001 Orphanet:3198 Orphanet:377788 disease +MONDO:0008492 stiff skin syndrome MONDO:0000001 Orphanet:2833 Orphanet:377788 disease +MONDO:0008493 overhydrated hereditary stomatocytosis MONDO:0000001 Orphanet:3203 Orphanet:377788 disease +MONDO:0008494 cryohydrocytosis MONDO:0000001 Orphanet:398088 Orphanet:377788 disease +MONDO:0008495 platelet storage pool deficiency MONDO:0000001 Orphanet:734 Orphanet:377788 disease +MONDO:0008497 Stormorken syndrome MONDO:0000001 Orphanet:3204 Orphanet:377788 disease +MONDO:0008513 synpolydactyly type 1 MONDO:0021651 Orphanet:295195 Orphanet:93403 synpolydactyly +MONDO:0008523 Blau syndrome MONDO:0000001 Orphanet:90340 Orphanet:377788 disease +MONDO:0008534 generalized essential telangiectasia MONDO:0000001 Orphanet:280774 Orphanet:377788 disease +MONDO:0008538 temporal arteritis MONDO:0000001 Orphanet:397 Orphanet:377788 disease +MONDO:0008557 Paris-Trousseau thrombocytopenia MONDO:0000001 Orphanet:851 Orphanet:377788 disease +MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0000001 Orphanet:3002 Orphanet:377788 disease +MONDO:0008585 HELLP syndrome MONDO:0000001 Orphanet:244242 Orphanet:377788 disease +MONDO:0008587 tracheobronchopathia osteochondroplastica MONDO:0000001 Orphanet:3348 Orphanet:377788 disease +MONDO:0008588 hereditary geniospasm MONDO:0000001 Orphanet:53372 Orphanet:377788 disease +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome MONDO:0000001 Orphanet:3350 Orphanet:377788 disease +MONDO:0008594 familial multiple discoid fibromas MONDO:0000001 Orphanet:538756 Orphanet:377788 disease +MONDO:0008599 trigeminal neuralgia MONDO:0000001 Orphanet:221091 Orphanet:377788 disease +MONDO:0008610 blue color blindness MONDO:0000001 Orphanet:88629 Orphanet:377788 disease +MONDO:0008619 ulna metaphyseal dysplasia syndrome MONDO:0000001 Orphanet:1837 Orphanet:377788 disease +MONDO:0008621 uncombable hair syndrome MONDO:0000001 Orphanet:1410 Orphanet:377788 disease +MONDO:0008633 Muckle-Wells syndrome MONDO:0000001 Orphanet:575 Orphanet:377788 disease +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0000001 Orphanet:247691 Orphanet:377788 disease +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0700264 Orphanet:247691 Orphanet:477647 type 1 interferonopathy +MONDO:0008659 transcobalamin I deficiency MONDO:0000001 Orphanet:2967 Orphanet:377788 disease +MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0000001 Orphanet:89937 Orphanet:377788 disease +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy MONDO:0000001 Orphanet:3086 Orphanet:377788 disease +MONDO:0008663 snowflake vitreoretinal degeneration MONDO:0000001 Orphanet:91496 Orphanet:377788 disease +MONDO:0008667 von Hippel-Lindau disease MONDO:0000001 Orphanet:892 Orphanet:377788 disease +MONDO:0008682 Denys-Drash syndrome MONDO:0000001 Orphanet:220 Orphanet:377788 disease +MONDO:0008686 isolated familial wooly hair disorder MONDO:0000001 Orphanet:170 Orphanet:377788 disease +MONDO:0008688 WT limb-blood syndrome MONDO:0000001 Orphanet:3466 Orphanet:377788 disease +MONDO:0008692 abetalipoproteinemia MONDO:0000001 Orphanet:14 Orphanet:377788 disease +MONDO:0008695 chorea-acanthocytosis MONDO:0000001 Orphanet:2388 Orphanet:377788 disease +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0000001 Orphanet:90301 Orphanet:377788 disease +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency MONDO:0000001 Orphanet:935 Orphanet:377788 disease +MONDO:0008705 lysosomal acid phosphatase deficiency MONDO:0000001 Orphanet:35121 Orphanet:377788 disease +MONDO:0008713 acrodermatitis enteropathica MONDO:0000001 Orphanet:37 Orphanet:377788 disease +MONDO:0008718 Morvan syndrome MONDO:0000001 Orphanet:83467 Orphanet:377788 disease +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency MONDO:0000001 Orphanet:199296 Orphanet:377788 disease +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency MONDO:0019824 Orphanet:199296 Orphanet:95488 non-acquired pituitary hormone deficiency +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:42 Orphanet:377788 disease +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:26792 Orphanet:377788 disease +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:26793 Orphanet:377788 disease +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0000001 Orphanet:90790 Orphanet:377788 disease +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0000001 Orphanet:90791 Orphanet:377788 disease +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0000001 Orphanet:90794 Orphanet:377788 disease +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:0000001 Orphanet:90795 Orphanet:377788 disease +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0000001 Orphanet:90793 Orphanet:377788 disease +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0000001 Orphanet:95700 Orphanet:377788 disease +MONDO:0008733 familial glucocorticoid deficiency MONDO:0000001 Orphanet:361 Orphanet:377788 disease +MONDO:0008737 congenital afibrinogenemia MONDO:0018060 Orphanet:98880 Orphanet:335 congenital fibrinogen deficiency +MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO:0000001 Orphanet:486 Orphanet:377788 disease +MONDO:0008746 oculocutaneous albinism type 2 MONDO:0000001 Orphanet:79432 Orphanet:377788 disease +MONDO:0008747 oculocutaneous albinism type 3 MONDO:0000001 Orphanet:79433 Orphanet:377788 disease +MONDO:0008749 pseudohypoparathyroidism type 2 MONDO:0000001 Orphanet:94090 Orphanet:377788 disease +MONDO:0008752 Alexander disease MONDO:0000001 Orphanet:58 Orphanet:377788 disease +MONDO:0008752 Alexander disease MONDO:0024237 Orphanet:58 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0008753 alkaptonuria MONDO:0000001 Orphanet:56 Orphanet:377788 disease +MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0000001 Orphanet:2850 Orphanet:377788 disease +MONDO:0008757 alopecia universalis congenita MONDO:0000001 Orphanet:701 Orphanet:377788 disease +MONDO:0008757 alopecia universalis congenita MONDO:0004907 Orphanet:701 Orphanet:79364 alopecia +MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0000001 Orphanet:726 Orphanet:377788 disease +MONDO:0008759 oxoglutaricaciduria MONDO:0000001 Orphanet:31 Orphanet:377788 disease +MONDO:0008760 beta-ketothiolase deficiency MONDO:0000001 Orphanet:134 Orphanet:377788 disease +MONDO:0008763 Alstrom syndrome MONDO:0000001 Orphanet:64 Orphanet:377788 disease +MONDO:0008766 amaurosis-hypertrichosis syndrome MONDO:0000001 Orphanet:1021 Orphanet:377788 disease +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0000001 Orphanet:228346 Orphanet:377788 disease +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0016295 Orphanet:228346 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0000001 Orphanet:228349 Orphanet:377788 disease +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0016295 Orphanet:228349 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria MONDO:0000001 Orphanet:79154 Orphanet:377788 disease +MONDO:0008777 gelatinous drop-like corneal dystrophy MONDO:0000001 Orphanet:98957 Orphanet:377788 disease +MONDO:0008783 Tangier disease MONDO:0000001 Orphanet:31150 Orphanet:377788 disease +MONDO:0008787 microcytic anemia with liver iron overload MONDO:0000001 Orphanet:83642 Orphanet:377788 disease +MONDO:0008788 IRIDA syndrome MONDO:0000001 Orphanet:209981 Orphanet:377788 disease +MONDO:0008792 familial angiolipomatosis MONDO:0000001 Orphanet:199279 Orphanet:377788 disease +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0000001 Orphanet:1116 Orphanet:377788 disease +MONDO:0008814 hyperargininemia MONDO:0000001 Orphanet:90 Orphanet:377788 disease +MONDO:0008814 hyperargininemia MONDO:0004739 Orphanet:90 Orphanet:79167 urea cycle disorder +MONDO:0008815 argininosuccinic aciduria MONDO:0000001 Orphanet:23 Orphanet:377788 disease +MONDO:0008815 argininosuccinic aciduria MONDO:0004739 Orphanet:23 Orphanet:79167 urea cycle disorder +MONDO:0008818 arterial tortuosity syndrome MONDO:0016175 Orphanet:3342 Orphanet:209 cutis laxa +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type MONDO:0000001 Orphanet:1143 Orphanet:377788 disease +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood MONDO:0000001 Orphanet:1159 Orphanet:377788 disease +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:0000001 Orphanet:2848 Orphanet:377788 disease +MONDO:0008829 chylous ascites MONDO:0000001 Orphanet:1160 Orphanet:377788 disease +MONDO:0008830 aspartylglucosaminuria MONDO:0000001 Orphanet:93 Orphanet:377788 disease +MONDO:0008840 ataxia telangiectasia MONDO:0000001 Orphanet:100 Orphanet:377788 disease +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0000001 Orphanet:1168 Orphanet:377788 disease +MONDO:0008846 atransferrinemia MONDO:0000001 Orphanet:1195 Orphanet:377788 disease +MONDO:0008847 atrichia with papular lesions MONDO:0000001 Orphanet:86819 Orphanet:377788 disease +MONDO:0008849 atrophoderma vermiculata MONDO:0000001 Orphanet:79100 Orphanet:377788 disease +MONDO:0008853 Barber-Say syndrome MONDO:0019280 Orphanet:1231 Orphanet:79365 hypertrichosis +MONDO:0008855 MHC class II deficiency MONDO:0000001 Orphanet:572 Orphanet:377788 disease +MONDO:0008863 sitosterolemia MONDO:0000001 Orphanet:2882 Orphanet:377788 disease +MONDO:0008864 Biemond syndrome type 2 MONDO:0000001 Orphanet:141333 Orphanet:377788 disease +MONDO:0008865 Bietti crystalline corneoretinal dystrophy MONDO:0000001 Orphanet:41751 Orphanet:377788 disease +MONDO:0008876 Bloom syndrome MONDO:0000001 Orphanet:125 Orphanet:377788 disease +MONDO:0008877 blue diaper syndrome MONDO:0000001 Orphanet:94086 Orphanet:377788 disease +MONDO:0008889 thromboangiitis obliterans MONDO:0000001 Orphanet:36258 Orphanet:377788 disease +MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0000001 Orphanet:289601 Orphanet:377788 disease +MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0000001 Orphanet:79318 Orphanet:377788 disease +MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0000001 Orphanet:79329 Orphanet:377788 disease +MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0000001 Orphanet:159 Orphanet:377788 disease +MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0000001 Orphanet:158 Orphanet:377788 disease +MONDO:0008921 carnosinemia MONDO:0019232 Orphanet:1361 Orphanet:79187 inborn disorder of peptide metabolism +MONDO:0008922 Sengers syndrome MONDO:0000001 Orphanet:1369 Orphanet:377788 disease +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0000001 Orphanet:1366 Orphanet:377788 disease +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO:0000001 Orphanet:435930 Orphanet:377788 disease +MONDO:0008928 cataract-ataxia-deafness syndrome MONDO:0000001 Orphanet:1368 Orphanet:377788 disease +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO:0000001 Orphanet:1173 Orphanet:377788 disease +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes MONDO:0000001 Orphanet:1177 Orphanet:377788 disease +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0000001 Orphanet:1170 Orphanet:377788 disease +MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0000001 Orphanet:1980 Orphanet:377788 disease +MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0000001 Orphanet:909 Orphanet:377788 disease +MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0000001 Orphanet:99948 Orphanet:377788 disease +MONDO:0008963 Chediak-Higashi syndrome MONDO:0000001 Orphanet:167 Orphanet:377788 disease +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO:0000001 Orphanet:53689 Orphanet:377788 disease +MONDO:0008966 Aagenaes syndrome MONDO:0000001 Orphanet:1414 Orphanet:377788 disease +MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0000001 Orphanet:79095 Orphanet:377788 disease +MONDO:0008974 Greenberg dysplasia MONDO:0000001 Orphanet:1426 Orphanet:377788 disease +MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0000001 Orphanet:1427 Orphanet:377788 disease +MONDO:0008977 chondrosarcoma MONDO:0000001 Orphanet:55880 Orphanet:377788 disease +MONDO:0008978 chordoma MONDO:0000001 Orphanet:178 Orphanet:377788 disease +MONDO:0008978 chordoma MONDO:0019060 Orphanet:178 Orphanet:68411 bone neoplasm +MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0000001 Orphanet:1180 Orphanet:377788 disease +MONDO:0008981 infantile choroidocerebral calcification syndrome MONDO:0000001 Orphanet:1313 Orphanet:377788 disease +MONDO:0008982 central areolar choroidal dystrophy MONDO:0000001 Orphanet:75377 Orphanet:377788 disease +MONDO:0008988 citrullinemia type I MONDO:0000001 Orphanet:247525 Orphanet:377788 disease +MONDO:0009000 familial reactive perforating collagenosis MONDO:0000001 Orphanet:79147 Orphanet:377788 disease +MONDO:0009009 hypoplasminogenemia MONDO:0000001 Orphanet:722 Orphanet:377788 disease +MONDO:0009018 central cloudy dystrophy of François MONDO:0000001 Orphanet:98972 Orphanet:377788 disease +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea MONDO:0000001 Orphanet:293603 Orphanet:377788 disease +MONDO:0009020 macular corneal dystrophy MONDO:0000001 Orphanet:98969 Orphanet:377788 disease +MONDO:0009025 apparent mineralocorticoid excess MONDO:0000001 Orphanet:320 Orphanet:377788 disease +MONDO:0009044 Crigler-Najjar syndrome MONDO:0000001 Orphanet:205 Orphanet:377788 disease +MONDO:0009044 Crigler-Najjar syndrome MONDO:0017755 Orphanet:205 Orphanet:309816 inborn disorder of bilirubin metabolism +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0000001 Orphanet:189427 Orphanet:377788 disease +MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:0000001 Orphanet:96253 Orphanet:377788 disease +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome MONDO:0000001 Orphanet:2881 Orphanet:377788 disease +MONDO:0009058 cystathioninuria MONDO:0000001 Orphanet:212 Orphanet:377788 disease +MONDO:0009061 cystic fibrosis MONDO:0000001 Orphanet:586 Orphanet:377788 disease +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:0000001 Orphanet:2575 Orphanet:377788 disease +MONDO:0009063 ventriculomegaly-cystic kidney disease MONDO:0000001 Orphanet:443988 Orphanet:377788 disease +MONDO:0009066 juvenile nephropathic cystinosis MONDO:0016239 Orphanet:411634 Orphanet:213 cystinosis +MONDO:0009067 cystinuria MONDO:0000001 Orphanet:214 Orphanet:377788 disease +MONDO:0009068 cytochrome-c oxidase deficiency disease MONDO:0000001 Orphanet:254905 Orphanet:377788 disease +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0000001 Orphanet:70472 Orphanet:377788 disease +MONDO:0009070 D-glyceric aciduria MONDO:0000001 Orphanet:941 Orphanet:377788 disease +MONDO:0009082 high myopia-sensorineural deafness syndrome MONDO:0000001 Orphanet:363396 Orphanet:377788 disease +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome MONDO:0000001 Orphanet:3217 Orphanet:377788 disease +MONDO:0009093 dermatoleukodystrophy MONDO:0000001 Orphanet:1659 Orphanet:377788 disease +MONDO:0009094 dermochondrocorneal dystrophy MONDO:0000001 Orphanet:79149 Orphanet:377788 disease +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0000001 Orphanet:3145 Orphanet:377788 disease +MONDO:0009105 trichohepatoenteric syndrome MONDO:0000001 Orphanet:84064 Orphanet:377788 disease +MONDO:0009105 trichohepatoenteric syndrome MONDO:0700264 Orphanet:84064 Orphanet:477647 type 1 interferonopathy +MONDO:0009107 diastrophic dysplasia MONDO:0000001 Orphanet:628 Orphanet:377788 disease +MONDO:0009109 lysinuric protein intolerance MONDO:0000001 Orphanet:470 Orphanet:377788 disease +MONDO:0009110 dicarboxylic aminoaciduria MONDO:0000001 Orphanet:2195 Orphanet:377788 disease +MONDO:0009111 dihydropyrimidinuria MONDO:0000001 Orphanet:38874 Orphanet:377788 disease +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0000001 Orphanet:714 Orphanet:377788 disease +MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0000001 Orphanet:35122 Orphanet:377788 disease +MONDO:0009115 congenital lactase deficiency MONDO:0000001 Orphanet:53690 Orphanet:377788 disease +MONDO:0009123 orthostatic hypotension 1 MONDO:0000001 Orphanet:230 Orphanet:377788 disease +MONDO:0009123 orthostatic hypotension 1 MONDO:0015914 Orphanet:230 Orphanet:182058 primary orthostatic hypotension +MONDO:0009130 Dyggve-Melchior-Clausen disease MONDO:0000001 Orphanet:239 Orphanet:377788 disease +MONDO:0009131 Riley-Day syndrome MONDO:0000001 Orphanet:1764 Orphanet:377788 disease +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0000001 Orphanet:1766 Orphanet:377788 disease +MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0000001 Orphanet:98873 Orphanet:377788 disease +MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type MONDO:0000001 Orphanet:156731 Orphanet:377788 disease +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0000001 Orphanet:1865 Orphanet:377788 disease +MONDO:0009141 torsion dystonia 2 MONDO:0000001 Orphanet:99657 Orphanet:377788 disease +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0000001 Orphanet:50944 Orphanet:377788 disease +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0019287 Orphanet:50944 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO:0000001 Orphanet:230851 Orphanet:377788 disease +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0000001 Orphanet:1901 Orphanet:377788 disease +MONDO:0009162 Ellis-van Creveld syndrome MONDO:0015461 Orphanet:289 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0009169 endocardial fibroelastosis MONDO:0000001 Orphanet:2022 Orphanet:377788 disease +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency MONDO:0000001 Orphanet:168601 Orphanet:377788 disease +MONDO:0009174 protein-losing enteropathy MONDO:0000001 Orphanet:566175 Orphanet:377788 disease +MONDO:0009175 eosinophilic fasciitis MONDO:0000001 Orphanet:3165 Orphanet:377788 disease +MONDO:0009176 epidermodysplasia verruciformis MONDO:0000001 Orphanet:302 Orphanet:377788 disease +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0000001 Orphanet:231556 Orphanet:377788 disease +MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:0000001 Orphanet:79408 Orphanet:377788 disease +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0000001 Orphanet:257 Orphanet:377788 disease +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0016106 Orphanet:257 Orphanet:206644 progressive muscular dystrophy +MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:0000001 Orphanet:79404 Orphanet:377788 disease +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:0000001 Orphanet:79403 Orphanet:377788 disease +MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome MONDO:0000001 Orphanet:1459 Orphanet:377788 disease +MONDO:0009188 epilepsy-telangiectasia syndrome MONDO:0000001 Orphanet:1951 Orphanet:377788 disease +MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0000001 Orphanet:93307 Orphanet:377788 disease +MONDO:0009191 Lowry-Wood syndrome MONDO:0000001 Orphanet:1824 Orphanet:377788 disease +MONDO:0009192 Wolcott-Rallison syndrome MONDO:0000001 Orphanet:1667 Orphanet:377788 disease +MONDO:0009194 immunodeficiency 32B MONDO:0000001 Orphanet:2566 Orphanet:377788 disease +MONDO:0009197 transient erythroblastopenia of childhood MONDO:0000001 Orphanet:98871 Orphanet:377788 disease +MONDO:0009198 congenital lethal erythroderma MONDO:0000001 Orphanet:1954 Orphanet:377788 disease +MONDO:0009210 congenital factor V deficiency MONDO:0000001 Orphanet:326 Orphanet:377788 disease +MONDO:0009211 congenital factor VII deficiency MONDO:0000001 Orphanet:327 Orphanet:377788 disease +MONDO:0009212 congenital factor X deficiency MONDO:0000001 Orphanet:328 Orphanet:377788 disease +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0000001 Orphanet:2088 Orphanet:377788 disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0000001 Orphanet:333 Orphanet:377788 disease +MONDO:0009218 Farber lipogranulomatosis MONDO:0019255 Orphanet:333 Orphanet:79225 sphingolipidosis +MONDO:0009229 hyaline fibromatosis syndrome MONDO:0000001 Orphanet:498474 Orphanet:377788 disease +MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:0000001 Orphanet:483 Orphanet:377788 disease +MONDO:0009235 familial benign flecked retina MONDO:0000001 Orphanet:363989 Orphanet:377788 disease +MONDO:0009238 hereditary folate malabsorption MONDO:0000001 Orphanet:90045 Orphanet:377788 disease +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0000001 Orphanet:52901 Orphanet:377788 disease +MONDO:0009240 formiminoglutamic aciduria MONDO:0000001 Orphanet:51208 Orphanet:377788 disease +MONDO:0009242 brittle cornea syndrome MONDO:0000001 Orphanet:90354 Orphanet:377788 disease +MONDO:0009249 hereditary fructose intolerance MONDO:0000001 Orphanet:469 Orphanet:377788 disease +MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:0000001 Orphanet:348 Orphanet:377788 disease +MONDO:0009252 essential fructosuria MONDO:0000001 Orphanet:2056 Orphanet:377788 disease +MONDO:0009254 fucosidosis MONDO:0000001 Orphanet:349 Orphanet:377788 disease +MONDO:0009255 galactokinase deficiency MONDO:0000001 Orphanet:79237 Orphanet:377788 disease +MONDO:0009257 galactose epimerase deficiency MONDO:0000001 Orphanet:79238 Orphanet:377788 disease +MONDO:0009258 classic galactosemia MONDO:0000001 Orphanet:79239 Orphanet:377788 disease +MONDO:0009259 gamma-glutamylcysteine synthetase deficiency MONDO:0000001 Orphanet:33574 Orphanet:377788 disease +MONDO:0009259 gamma-glutamylcysteine synthetase deficiency MONDO:0019241 Orphanet:33574 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0009271 geroderma osteodysplastica MONDO:0016175 Orphanet:2078 Orphanet:209 cutis laxa +MONDO:0009275 neonatal hemochromatosis MONDO:0000001 Orphanet:446 Orphanet:377788 disease +MONDO:0009275 neonatal hemochromatosis MONDO:0017763 Orphanet:446 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0009276 Bernard-Soulier syndrome MONDO:0000001 Orphanet:274 Orphanet:377788 disease +MONDO:0009277 glaucoma 3A MONDO:0000001 Orphanet:98976 Orphanet:377788 disease +MONDO:0009279 triple-A syndrome MONDO:0000001 Orphanet:869 Orphanet:377788 disease +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:25 Orphanet:377788 disease +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:26791 Orphanet:377788 disease +MONDO:0009283 glutaric acidemia type 3 MONDO:0000001 Orphanet:35706 Orphanet:377788 disease +MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO:0000001 Orphanet:33573 Orphanet:377788 disease +MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO:0019241 Orphanet:33573 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0009288 glycogen storage disease Ib MONDO:0002413 Orphanet:79259 Orphanet:364 glycogen storage disease I +MONDO:0009290 glycogen storage disease II MONDO:0000001 Orphanet:365 Orphanet:377788 disease +MONDO:0009291 glycogen storage disease III MONDO:0000001 Orphanet:366 Orphanet:377788 disease +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0000001 Orphanet:367 Orphanet:377788 disease +MONDO:0009293 glycogen storage disease V MONDO:0000001 Orphanet:368 Orphanet:377788 disease +MONDO:0009294 glycogen storage disease VI MONDO:0000001 Orphanet:369 Orphanet:377788 disease +MONDO:0009295 glycogen storage disease VII MONDO:0000001 Orphanet:371 Orphanet:377788 disease +MONDO:0009297 familial renal glucosuria MONDO:0000001 Orphanet:69076 Orphanet:377788 disease +MONDO:0009303 anti-glomerular basement membrane disease MONDO:0000001 Orphanet:375 Orphanet:377788 disease +MONDO:0009306 combined immunodeficiency with skin granulomas MONDO:0000001 Orphanet:157949 Orphanet:377788 disease +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency MONDO:0000001 Orphanet:1979 Orphanet:377788 disease +MONDO:0009315 congenital factor XII deficiency MONDO:0000001 Orphanet:330 Orphanet:377788 disease +MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0000001 Orphanet:157850 Orphanet:377788 disease +MONDO:0009324 Hartnup disease MONDO:0000001 Orphanet:2116 Orphanet:377788 disease +MONDO:0009326 congenital heart block MONDO:0000001 Orphanet:60041 Orphanet:377788 disease +MONDO:0009329 pulmonary venoocclusive disease 2 MONDO:0000001 Orphanet:199241 Orphanet:377788 disease +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:0000001 Orphanet:79124 Orphanet:377788 disease +MONDO:0009339 congenital bile acid synthesis defect 2 MONDO:0000001 Orphanet:79303 Orphanet:377788 disease +MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency MONDO:0000001 Orphanet:90031 Orphanet:377788 disease +MONDO:0009345 histidinemia MONDO:0000001 Orphanet:2157 Orphanet:377788 disease +MONDO:0009346 histidinuria due to a renal tubular defect MONDO:0000001 Orphanet:2158 Orphanet:377788 disease +MONDO:0009346 histidinuria due to a renal tubular defect MONDO:0019228 Orphanet:2158 Orphanet:79181 inborn disorder of histidine metabolism +MONDO:0009348 classic Hodgkin lymphoma MONDO:0000001 Orphanet:391 Orphanet:377788 disease +MONDO:0009352 classic homocystinuria MONDO:0000001 Orphanet:394 Orphanet:377788 disease +MONDO:0009352 classic homocystinuria MONDO:0019222 Orphanet:394 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0000001 Orphanet:395 Orphanet:377788 disease +MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:79314 Orphanet:377788 disease +MONDO:0009371 3-hydroxyisobutyric aciduria MONDO:0000001 Orphanet:939 Orphanet:377788 disease +MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0000001 Orphanet:79155 Orphanet:377788 disease +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0000001 Orphanet:79156 Orphanet:377788 disease +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:0000001 Orphanet:147 Orphanet:377788 disease +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:0004739 Orphanet:147 Orphanet:79167 urea cycle disorder +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0000001 Orphanet:927 Orphanet:377788 disease +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0004739 Orphanet:927 Orphanet:79167 urea cycle disorder +MONDO:0009378 hyper-beta-alaninemia MONDO:0000001 Orphanet:309147 Orphanet:377788 disease +MONDO:0009379 Rotor syndrome MONDO:0000001 Orphanet:3111 Orphanet:377788 disease +MONDO:0009379 Rotor syndrome MONDO:0017755 Orphanet:3111 Orphanet:309816 inborn disorder of bilirubin metabolism +MONDO:0009380 Dubin-Johnson syndrome MONDO:0000001 Orphanet:234 Orphanet:377788 disease +MONDO:0009380 Dubin-Johnson syndrome MONDO:0017755 Orphanet:234 Orphanet:309816 inborn disorder of bilirubin metabolism +MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0000001 Orphanet:2312 Orphanet:377788 disease +MONDO:0009388 hyperlysinemia MONDO:0000001 Orphanet:2203 Orphanet:377788 disease +MONDO:0009393 ornithine translocase deficiency MONDO:0000001 Orphanet:415 Orphanet:377788 disease +MONDO:0009393 ornithine translocase deficiency MONDO:0004739 Orphanet:415 Orphanet:79167 urea cycle disorder +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0000001 Orphanet:417 Orphanet:377788 disease +MONDO:0009397 neonatal severe primary hyperparathyroidism MONDO:0016166 Orphanet:417 Orphanet:208596 hereditary hyperparathyroidism +MONDO:0009400 hyperprolinemia type 1 MONDO:0000001 Orphanet:419 Orphanet:377788 disease +MONDO:0009400 hyperprolinemia type 1 MONDO:0017355 Orphanet:419 Orphanet:289866 inborn disorder of proline metabolism +MONDO:0009401 hyperprolinemia type 2 MONDO:0000001 Orphanet:79101 Orphanet:377788 disease +MONDO:0009401 hyperprolinemia type 2 MONDO:0017355 Orphanet:79101 Orphanet:289866 inborn disorder of proline metabolism +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome MONDO:0000001 Orphanet:2218 Orphanet:377788 disease +MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0000001 Orphanet:3453 Orphanet:377788 disease +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0000001 Orphanet:2089 Orphanet:377788 disease +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0000001 Orphanet:293964 Orphanet:377788 disease +MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0000001 Orphanet:3464 Orphanet:377788 disease +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome MONDO:0000001 Orphanet:2232 Orphanet:377788 disease +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria MONDO:0000001 Orphanet:157215 Orphanet:377788 disease +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0000001 Orphanet:457 Orphanet:377788 disease +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:0017265 Orphanet:457 Orphanet:281097 autosomal recessive congenital ichthyosis +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0000001 Orphanet:2269 Orphanet:377788 disease +MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome MONDO:0000001 Orphanet:2274 Orphanet:377788 disease +MONDO:0009448 iminoglycinuria MONDO:0000001 Orphanet:42062 Orphanet:377788 disease +MONDO:0009451 Nezelof syndrome MONDO:0000001 Orphanet:83471 Orphanet:377788 disease +MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0000001 Orphanet:1830 Orphanet:377788 disease +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive MONDO:0000001 Orphanet:88642 Orphanet:377788 disease +MONDO:0009468 pseudotumor cerebri MONDO:0000001 Orphanet:238624 Orphanet:377788 disease +MONDO:0009475 isovaleric acidemia MONDO:0000001 Orphanet:33 Orphanet:377788 disease +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0000001 Orphanet:217390 Orphanet:377788 disease +MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type MONDO:0000001 Orphanet:86923 Orphanet:377788 disease +MONDO:0009490 Papillon-Lefevre disease MONDO:0000001 Orphanet:678 Orphanet:377788 disease +MONDO:0009490 Papillon-Lefevre disease MONDO:0019287 Orphanet:678 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009491 Haim-Munk syndrome MONDO:0000001 Orphanet:2342 Orphanet:377788 disease +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0000001 Orphanet:832 Orphanet:377788 disease +MONDO:0009499 Krabbe disease MONDO:0000001 Orphanet:487 Orphanet:377788 disease +MONDO:0009499 Krabbe disease MONDO:0024237 Orphanet:487 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0009501 metabolic myopathy due to lactate transporter defect MONDO:0000001 Orphanet:171690 Orphanet:377788 disease +MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0000001 Orphanet:17 Orphanet:377788 disease +MONDO:0009506 specific granule deficiency MONDO:0000001 Orphanet:169142 Orphanet:377788 disease +MONDO:0009509 Landau-Kleffner syndrome MONDO:0000001 Orphanet:98818 Orphanet:377788 disease +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0000001 Orphanet:2407 Orphanet:377788 disease +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0000001 Orphanet:20 Orphanet:377788 disease +MONDO:0009523 Lichtenstein syndrome MONDO:0000001 Orphanet:2390 Orphanet:377788 disease +MONDO:0009528 chylomicron retention disease MONDO:0000001 Orphanet:71 Orphanet:377788 disease +MONDO:0009537 lymphoid interstitial pneumonia MONDO:0000001 Orphanet:79128 Orphanet:377788 disease +MONDO:0009549 severe early-childhood-onset retinal dystrophy MONDO:0000001 Orphanet:364055 Orphanet:377788 disease +MONDO:0009552 mal de Meleda MONDO:0000001 Orphanet:87503 Orphanet:377788 disease +MONDO:0009556 malonic aciduria MONDO:0000001 Orphanet:943 Orphanet:377788 disease +MONDO:0009561 alpha-mannosidosis MONDO:0000001 Orphanet:61 Orphanet:377788 disease +MONDO:0009562 beta-mannosidosis MONDO:0000001 Orphanet:118 Orphanet:377788 disease +MONDO:0009563 maple syrup urine disease MONDO:0000001 Orphanet:511 Orphanet:377788 disease +MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0000001 Orphanet:559 Orphanet:377788 disease +MONDO:0009568 mast syndrome MONDO:0000001 Orphanet:101001 Orphanet:377788 disease +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0000001 Orphanet:49827 Orphanet:377788 disease +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0017578 Orphanet:49827 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0009578 neurocutaneous melanocytosis MONDO:0000001 Orphanet:2481 Orphanet:377788 disease +MONDO:0009579 Frank-Ter Haar syndrome MONDO:0000001 Orphanet:137834 Orphanet:377788 disease +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type MONDO:0017393 Orphanet:2728 Orphanet:293642 blepharophimosis - intellectual disability syndrome +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:0019694 Orphanet:93317 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type MONDO:0000001 Orphanet:166038 Orphanet:377788 disease +MONDO:0009595 cartilage-hair hypoplasia MONDO:0000001 Orphanet:175 Orphanet:377788 disease +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type MONDO:0000001 Orphanet:2501 Orphanet:377788 disease +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0000001 Orphanet:88639 Orphanet:377788 disease +MONDO:0009607 methionine adenosyltransferase deficiency MONDO:0000001 Orphanet:168598 Orphanet:377788 disease +MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0000001 Orphanet:67046 Orphanet:377788 disease +MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0000001 Orphanet:67048 Orphanet:377788 disease +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0000001 Orphanet:27 Orphanet:377788 disease +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0000001 Orphanet:308425 Orphanet:377788 disease +MONDO:0009635 microvillus inclusion disease MONDO:0000001 Orphanet:2290 Orphanet:377788 disease +MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0000001 Orphanet:279934 Orphanet:377788 disease +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome MONDO:0000001 Orphanet:2400 Orphanet:377788 disease +MONDO:0009650 mucolipidosis type II MONDO:0000001 Orphanet:576 Orphanet:377788 disease +MONDO:0009650 mucolipidosis type II MONDO:0019248 Orphanet:576 Orphanet:79212 mucolipidosis +MONDO:0009653 mucolipidosis type IV MONDO:0000001 Orphanet:578 Orphanet:377788 disease +MONDO:0009653 mucolipidosis type IV MONDO:0019248 Orphanet:578 Orphanet:79212 mucolipidosis +MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0000001 Orphanet:583 Orphanet:377788 disease +MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0000001 Orphanet:584 Orphanet:377788 disease +MONDO:0009665 biotinidase deficiency MONDO:0000001 Orphanet:79241 Orphanet:377788 disease +MONDO:0009666 holocarboxylase synthetase deficiency MONDO:0000001 Orphanet:79242 Orphanet:377788 disease +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome MONDO:0000001 Orphanet:3068 Orphanet:377788 disease +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0000001 Orphanet:267 Orphanet:377788 disease +MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:0000001 Orphanet:268 Orphanet:377788 disease +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0000001 Orphanet:353 Orphanet:377788 disease +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome MONDO:0000001 Orphanet:1875 Orphanet:377788 disease +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0000001 Orphanet:1878 Orphanet:377788 disease +MONDO:0009685 Miyoshi myopathy MONDO:0000001 Orphanet:45448 Orphanet:377788 disease +MONDO:0009688 myasthenia gravis MONDO:0000001 Orphanet:589 Orphanet:377788 disease +MONDO:0009691 mycosis fungoides MONDO:0000001 Orphanet:2584 Orphanet:377788 disease +MONDO:0009692 primary myelofibrosis MONDO:0000001 Orphanet:824 Orphanet:377788 disease +MONDO:0009693 plasma cell myeloma MONDO:0000001 Orphanet:29073 Orphanet:377788 disease +MONDO:0009694 myeloperoxidase deficiency MONDO:0000001 Orphanet:2587 Orphanet:377788 disease +MONDO:0009696 juvenile myoclonic epilepsy MONDO:0000001 Orphanet:307 Orphanet:377788 disease +MONDO:0009697 Lafora disease MONDO:0000001 Orphanet:501 Orphanet:377788 disease +MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0000001 Orphanet:308 Orphanet:377788 disease +MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0000001 Orphanet:163696 Orphanet:377788 disease +MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0015650 Orphanet:163696 Orphanet:166463 epilepsy syndrome +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0000001 Orphanet:156 Orphanet:377788 disease +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:0000001 Orphanet:43115 Orphanet:377788 disease +MONDO:0009710 Thomsen and Becker disease MONDO:0000001 Orphanet:614 Orphanet:377788 disease +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0000001 Orphanet:2020 Orphanet:377788 disease +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0017303 Orphanet:2020 Orphanet:284790 qualitative or quantitative defects of tropomyosin +MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0019952 Orphanet:2020 Orphanet:97245 congenital myopathy +MONDO:0009714 myosclerosis MONDO:0000001 Orphanet:289380 Orphanet:377788 disease +MONDO:0009717 Schwartz-Jampel syndrome MONDO:0000001 Orphanet:800 Orphanet:377788 disease +MONDO:0009719 familial atrial myxoma MONDO:0000001 Orphanet:615 Orphanet:377788 disease +MONDO:0009723 Leigh syndrome MONDO:0000001 Orphanet:506 Orphanet:377788 disease +MONDO:0009724 nail-patella-like renal disease MONDO:0000001 Orphanet:2613 Orphanet:377788 disease +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0000001 Orphanet:324977 Orphanet:377788 disease +MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0700264 Orphanet:324977 Orphanet:477647 type 1 interferonopathy +MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:0000001 Orphanet:839 Orphanet:377788 disease +MONDO:0009735 Netherton syndrome MONDO:0000001 Orphanet:634 Orphanet:377788 disease +MONDO:0009737 galactosialidosis MONDO:0000001 Orphanet:351 Orphanet:377788 disease +MONDO:0009738 sialidosis type 2 MONDO:0000001 Orphanet:87876 Orphanet:377788 disease +MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0000001 Orphanet:228329 Orphanet:377788 disease +MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0000001 Orphanet:228360 Orphanet:377788 disease +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0000001 Orphanet:642 Orphanet:377788 disease +MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0000001 Orphanet:255229 Orphanet:377788 disease +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:0000001 Orphanet:139578 Orphanet:377788 disease +MONDO:0009749 giant axonal neuropathy 1 MONDO:0000001 Orphanet:643 Orphanet:377788 disease +MONDO:0009749 giant axonal neuropathy 1 MONDO:0020127 Orphanet:643 Orphanet:98497 hereditary peripheral neuropathy +MONDO:0009756 Niemann-Pick disease type A MONDO:0000001 Orphanet:77292 Orphanet:377788 disease +MONDO:0009764 ocular motor apraxia, Cogan type MONDO:0000001 Orphanet:1125 Orphanet:377788 disease +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0000001 Orphanet:2721 Orphanet:377788 disease +MONDO:0009773 odonto-onycho-dermal dysplasia MONDO:0019287 Orphanet:2721 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0009785 opsismodysplasia MONDO:0000001 Orphanet:2746 Orphanet:377788 disease +MONDO:0009785 opsismodysplasia MONDO:0019694 Orphanet:2746 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0000001 Orphanet:67047 Orphanet:377788 disease +MONDO:0009796 ornithine aminotransferase deficiency MONDO:0000001 Orphanet:414 Orphanet:377788 disease +MONDO:0009797 orotic aciduria MONDO:0000001 Orphanet:30 Orphanet:377788 disease +MONDO:0009804 osteogenesis imperfecta type 3 MONDO:0019019 Orphanet:216812 Orphanet:666 osteogenesis imperfecta +MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0000001 Orphanet:324964 Orphanet:377788 disease +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0000001 Orphanet:2785 Orphanet:377788 disease +MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0017198 Orphanet:2785 Orphanet:2781 osteopetrosis +MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0000001 Orphanet:2788 Orphanet:377788 disease +MONDO:0009825 5-oxoprolinase deficiency MONDO:0000001 Orphanet:33572 Orphanet:377788 disease +MONDO:0009825 5-oxoprolinase deficiency MONDO:0019241 Orphanet:33572 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0000001 Orphanet:171695 Orphanet:377788 disease +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0000001 Orphanet:811 Orphanet:377788 disease +MONDO:0009835 subacute sclerosing panencephalitis MONDO:0000001 Orphanet:2806 Orphanet:377788 disease +MONDO:0009837 choroid plexus papilloma MONDO:0000001 Orphanet:2807 Orphanet:377788 disease +MONDO:0009837 choroid plexus papilloma MONDO:0016717 Orphanet:2807 Orphanet:251896 choroid plexus neoplasm +MONDO:0009838 Parana hard-skin syndrome MONDO:0000001 Orphanet:2812 Orphanet:377788 disease +MONDO:0009841 PEHO syndrome MONDO:0000001 Orphanet:2836 Orphanet:377788 disease +MONDO:0009846 pentosuria MONDO:0000001 Orphanet:2843 Orphanet:377788 disease +MONDO:0009846 pentosuria MONDO:0018605 Orphanet:2843 Orphanet:440701 disorders of pentose/polyol metabolism +MONDO:0009848 dissecting cellulitis of the scalp MONDO:0000001 Orphanet:345 Orphanet:377788 disease +MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0000001 Orphanet:332 Orphanet:377788 disease +MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0000001 Orphanet:35858 Orphanet:377788 disease +MONDO:0009855 d-bifunctional protein deficiency MONDO:0000001 Orphanet:300 Orphanet:377788 disease +MONDO:0009861 phenylketonuria MONDO:0000001 Orphanet:716 Orphanet:377788 disease +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0000001 Orphanet:97234 Orphanet:377788 disease +MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0000001 Orphanet:439854 Orphanet:377788 disease +MONDO:0009868 glycogen storage disease IXb MONDO:0000001 Orphanet:79240 Orphanet:377788 disease +MONDO:0009870 pili torti MONDO:0000001 Orphanet:2889 Orphanet:377788 disease +MONDO:0009872 Bjornstad syndrome MONDO:0000001 Orphanet:123 Orphanet:377788 disease +MONDO:0009877 Laron syndrome MONDO:0000001 Orphanet:633 Orphanet:377788 disease +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0000001 Orphanet:85442 Orphanet:377788 disease +MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:0000001 Orphanet:79 Orphanet:377788 disease +MONDO:0009885 Scott syndrome MONDO:0000001 Orphanet:806 Orphanet:377788 disease +MONDO:0009887 desquamative interstitial pneumonia MONDO:0000001 Orphanet:98852 Orphanet:377788 disease +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0000001 Orphanet:731 Orphanet:377788 disease +MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0019741 Orphanet:731 Orphanet:93587 familial cystic renal disease +MONDO:0009891 acquired polycythemia vera MONDO:0000001 Orphanet:729 Orphanet:377788 disease +MONDO:0009891 acquired polycythemia vera MONDO:0020076 Orphanet:729 Orphanet:98274 myeloproliferative neoplasm +MONDO:0009892 Chuvash polycythemia MONDO:0000001 Orphanet:238557 Orphanet:377788 disease +MONDO:0009902 cutaneous porphyria MONDO:0000001 Orphanet:79277 Orphanet:377788 disease +MONDO:0009904 Gitelman syndrome MONDO:0000001 Orphanet:358 Orphanet:377788 disease +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0015333 Orphanet:3455 Orphanet:139033 progeroid syndrome +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0019303 Orphanet:3455 Orphanet:79389 premature aging syndrome +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0000001 Orphanet:752 Orphanet:377788 disease +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0000001 Orphanet:2971 Orphanet:377788 disease +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0000001 Orphanet:753 Orphanet:377788 disease +MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO:0000001 Orphanet:289157 Orphanet:377788 disease +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0000001 Orphanet:758 Orphanet:377788 disease +MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0000001 Orphanet:60025 Orphanet:377788 disease +MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 MONDO:0000001 Orphanet:217563 Orphanet:377788 disease +MONDO:0009933 congenital pulmonary lymphangiectasia MONDO:0000001 Orphanet:2414 Orphanet:377788 disease +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins MONDO:0000001 Orphanet:210122 Orphanet:377788 disease +MONDO:0009937 pulmonary venoocclusive disease MONDO:0000001 Orphanet:31837 Orphanet:377788 disease +MONDO:0009940 pycnodysostosis MONDO:0000001 Orphanet:763 Orphanet:377788 disease +MONDO:0009943 Pyle disease MONDO:0000001 Orphanet:3005 Orphanet:377788 disease +MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0000001 Orphanet:3006 Orphanet:377788 disease +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO:0000001 Orphanet:35120 Orphanet:377788 disease +MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0000001 Orphanet:3008 Orphanet:377788 disease +MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0000001 Orphanet:766 Orphanet:377788 disease +MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0016789 Orphanet:766 Orphanet:254746 pyruvate metabolism disorder +MONDO:0009958 adult Refsum disease MONDO:0000001 Orphanet:773 Orphanet:377788 disease +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0000001 Orphanet:140969 Orphanet:377788 disease +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0019691 Orphanet:140969 Orphanet:93426 short rib dysplasia +MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0000001 Orphanet:70587 Orphanet:377788 disease +MONDO:0009973 reticular dysgenesis MONDO:0000001 Orphanet:33355 Orphanet:377788 disease +MONDO:0009975 reticulum cell sarcoma MONDO:0000001 Orphanet:86900 Orphanet:377788 disease +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium MONDO:0000001 Orphanet:99002 Orphanet:377788 disease +MONDO:0010002 Rothmund-Thomson syndrome MONDO:0000001 Orphanet:2909 Orphanet:377788 disease +MONDO:0010005 saccharopinuria MONDO:0000001 Orphanet:3124 Orphanet:377788 disease +MONDO:0010006 Sandhoff disease MONDO:0000001 Orphanet:796 Orphanet:377788 disease +MONDO:0010008 sarcosinemia MONDO:0000001 Orphanet:3129 Orphanet:377788 disease +MONDO:0010011 schizencephaly MONDO:0000001 Orphanet:799 Orphanet:377788 disease +MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0000001 Orphanet:3143 Orphanet:377788 disease +MONDO:0010013 schneckenbecken dysplasia MONDO:0019694 Orphanet:3144 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0010017 sea-blue histiocyte syndrome MONDO:0000001 Orphanet:158029 Orphanet:377788 disease +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0000001 Orphanet:911 Orphanet:377788 disease +MONDO:0010024 Beemer-Langer syndrome MONDO:0015461 Orphanet:93268 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0010028 sialuria MONDO:0000001 Orphanet:3166 Orphanet:377788 disease +MONDO:0010030 Sjogren syndrome MONDO:0000001 Orphanet:289390 Orphanet:377788 disease +MONDO:0010031 Sjogren-Larsson syndrome MONDO:0000001 Orphanet:816 Orphanet:377788 disease +MONDO:0010033 generalized peeling skin syndrome MONDO:0000001 Orphanet:263543 Orphanet:377788 disease +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0019240 Orphanet:818 Orphanet:79195 sterol biosynthesis disorder +MONDO:0010038 growth delay due to insulin-like growth factor I resistance MONDO:0000001 Orphanet:73273 Orphanet:377788 disease +MONDO:0010041 Charlevoix-Saguenay spastic ataxia MONDO:0000001 Orphanet:98 Orphanet:377788 disease +MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0000001 Orphanet:100998 Orphanet:377788 disease +MONDO:0010044 hereditary spastic paraplegia 15 MONDO:0000001 Orphanet:100996 Orphanet:377788 disease +MONDO:0010046 hereditary spastic paraplegia 23 MONDO:0000001 Orphanet:101003 Orphanet:377788 disease +MONDO:0010047 hereditary spastic paraplegia 5A MONDO:0000001 Orphanet:100986 Orphanet:377788 disease +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0000001 Orphanet:2818 Orphanet:377788 disease +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO:0000001 Orphanet:3011 Orphanet:377788 disease +MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0000001 Orphanet:1186 Orphanet:377788 disease +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0000001 Orphanet:95433 Orphanet:377788 disease +MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome MONDO:0000001 Orphanet:1185 Orphanet:377788 disease +MONDO:0010064 spastic ataxia-corneal dystrophy syndrome MONDO:0000001 Orphanet:2572 Orphanet:377788 disease +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0000001 Orphanet:93357 Orphanet:377788 disease +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0000001 Orphanet:163665 Orphanet:377788 disease +MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:0000001 Orphanet:642099 Orphanet:377788 disease +MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type MONDO:0000001 Orphanet:93351 Orphanet:377788 disease +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO:0000001 Orphanet:93358 Orphanet:377788 disease +MONDO:0010078 spondyloperipheral dysplasia MONDO:0000001 Orphanet:1856 Orphanet:377788 disease +MONDO:0010079 Canavan disease MONDO:0000001 Orphanet:141 Orphanet:377788 disease +MONDO:0010079 Canavan disease MONDO:0024237 Orphanet:141 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0010080 familial infantile bilateral striatal necrosis MONDO:0000001 Orphanet:225154 Orphanet:377788 disease +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0000001 Orphanet:22 Orphanet:377788 disease +MONDO:0010085 Schilder disease MONDO:0000001 Orphanet:59298 Orphanet:377788 disease +MONDO:0010088 mucosulfatidosis MONDO:0000001 Orphanet:585 Orphanet:377788 disease +MONDO:0010091 Cold-induced sweating syndrome 1 MONDO:0018431 Orphanet:1545 Orphanet:401993 cold-induced sweating syndrome - hyperthermia spectrum +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome MONDO:0000001 Orphanet:1178 Orphanet:377788 disease +MONDO:0010099 Tay-Sachs disease AB variant MONDO:0000001 Orphanet:309246 Orphanet:377788 disease +MONDO:0010100 Tay-Sachs disease MONDO:0000001 Orphanet:845 Orphanet:377788 disease +MONDO:0010116 thoracomelic dysplasia MONDO:0000001 Orphanet:1803 Orphanet:377788 disease +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency MONDO:0000001 Orphanet:1675 Orphanet:377788 disease +MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0000001 Orphanet:95716 Orphanet:377788 disease +MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO:0000001 Orphanet:90674 Orphanet:377788 disease +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency MONDO:0000001 Orphanet:238670 Orphanet:377788 disease +MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO:0000001 Orphanet:90673 Orphanet:377788 disease +MONDO:0010146 Kerion celsi MONDO:0000001 Orphanet:499 Orphanet:377788 disease +MONDO:0010149 transcobalamin II deficiency MONDO:0000001 Orphanet:859 Orphanet:377788 disease +MONDO:0010155 Dorfman-Chanarin disease MONDO:0000001 Orphanet:98907 Orphanet:377788 disease +MONDO:0010156 Troyer syndrome MONDO:0000001 Orphanet:101000 Orphanet:377788 disease +MONDO:0010160 tyrosinemia type II MONDO:0000001 Orphanet:28378 Orphanet:377788 disease +MONDO:0010160 tyrosinemia type II MONDO:0017307 Orphanet:28378 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0010161 tyrosinemia type I MONDO:0000001 Orphanet:882 Orphanet:377788 disease +MONDO:0010161 tyrosinemia type I MONDO:0017307 Orphanet:882 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0010162 tyrosinemia type III MONDO:0000001 Orphanet:69723 Orphanet:377788 disease +MONDO:0010162 tyrosinemia type III MONDO:0017307 Orphanet:69723 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0010167 urocanic aciduria MONDO:0000001 Orphanet:210128 Orphanet:377788 disease +MONDO:0010181 oculogastrointestinal muscular dystrophy MONDO:0000001 Orphanet:1876 Orphanet:377788 disease +MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0000001 Orphanet:96 Orphanet:377788 disease +MONDO:0010196 Werner syndrome MONDO:0000001 Orphanet:902 Orphanet:377788 disease +MONDO:0010196 Werner syndrome MONDO:0019303 Orphanet:902 Orphanet:79389 premature aging syndrome +MONDO:0010200 Wilson disease MONDO:0000001 Orphanet:905 Orphanet:377788 disease +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0000001 Orphanet:90342 Orphanet:377788 disease +MONDO:0010214 xeroderma pigmentosum variant type MONDO:0015951 Orphanet:90342 Orphanet:183490 hereditary photodermatosis +MONDO:0010220 Young syndrome MONDO:0000001 Orphanet:3471 Orphanet:377788 disease +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0000001 Orphanet:2148 Orphanet:377788 disease +MONDO:0010243 X-linked immunoneurologic disorder MONDO:0000001 Orphanet:2571 Orphanet:377788 disease +MONDO:0010246 developmental and epileptic encephalopathy, 9 MONDO:0000001 Orphanet:101039 Orphanet:377788 disease +MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia MONDO:0000001 Orphanet:93349 Orphanet:377788 disease +MONDO:0010250 intellectual disability, X-linked 49 MONDO:0000001 Orphanet:485350 Orphanet:377788 disease +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0000001 Orphanet:86818 Orphanet:377788 disease +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0000001 Orphanet:95702 Orphanet:377788 disease +MONDO:0010269 Coats disease MONDO:0000001 Orphanet:190 Orphanet:377788 disease +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0000001 Orphanet:456328 Orphanet:377788 disease +MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0018947 Orphanet:456328 Orphanet:595 centronuclear myopathy +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0000001 Orphanet:83629 Orphanet:377788 disease +MONDO:0010281 Danon disease MONDO:0000001 Orphanet:34587 Orphanet:377788 disease +MONDO:0010287 hereditary spastic paraplegia 16 MONDO:0000001 Orphanet:100997 Orphanet:377788 disease +MONDO:0010288 adrenomyodystrophy MONDO:0000001 Orphanet:977 Orphanet:377788 disease +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0000001 Orphanet:98813 Orphanet:377788 disease +MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0019287 Orphanet:98813 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0010294 X-linked severe congenital neutropenia MONDO:0000001 Orphanet:86788 Orphanet:377788 disease +MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0000001 Orphanet:69088 Orphanet:377788 disease +MONDO:0010298 Lesch-Nyhan syndrome MONDO:0000001 Orphanet:510 Orphanet:377788 disease +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0000001 Orphanet:79233 Orphanet:377788 disease +MONDO:0010305 creatine transporter deficiency MONDO:0000001 Orphanet:52503 Orphanet:377788 disease +MONDO:0010311 Becker muscular dystrophy MONDO:0000001 Orphanet:98895 Orphanet:377788 disease +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0000001 Orphanet:276 Orphanet:377788 disease +MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO:0000001 Orphanet:93952 Orphanet:377788 disease +MONDO:0010327 HSD10 mitochondrial disease MONDO:0000001 Orphanet:391417 Orphanet:377788 disease +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome MONDO:0000001 Orphanet:231401 Orphanet:377788 disease +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0000001 Orphanet:137831 Orphanet:377788 disease +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 MONDO:0000001 Orphanet:139557 Orphanet:377788 disease +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0000001 Orphanet:85294 Orphanet:377788 disease +MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0015653 Orphanet:85294 Orphanet:166472 monogenic epilepsy +MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:0000001 Orphanet:59 Orphanet:377788 disease +MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis MONDO:0000001 Orphanet:93606 Orphanet:377788 disease +MONDO:0010362 glycogen storage disease IXd MONDO:0000001 Orphanet:715 Orphanet:377788 disease +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:85332 Orphanet:377788 disease +MONDO:0010367 SHOX-related short stature MONDO:0000001 Orphanet:314795 Orphanet:377788 disease +MONDO:0010371 Aland island eye disease MONDO:0000001 Orphanet:178333 Orphanet:377788 disease +MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0000001 Orphanet:163985 Orphanet:377788 disease +MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0017658 Orphanet:163985 Orphanet:306773 hyperekplexia +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0000001 Orphanet:139583 Orphanet:377788 disease +MONDO:0010379 Brunner syndrome MONDO:0000001 Orphanet:3057 Orphanet:377788 disease +MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0000001 Orphanet:538934 Orphanet:377788 disease +MONDO:0010390 ocular albinism with late-onset sensorineural deafness MONDO:0000001 Orphanet:1000 Orphanet:377788 disease +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0000001 Orphanet:713 Orphanet:377788 disease +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0000001 Orphanet:3222 Orphanet:377788 disease +MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0000001 Orphanet:505652 Orphanet:377788 disease +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MONDO:0000001 Orphanet:209370 Orphanet:377788 disease +MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0000001 Orphanet:261476 Orphanet:377788 disease +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy MONDO:0000001 Orphanet:431272 Orphanet:377788 disease +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0000001 Orphanet:178461 Orphanet:377788 disease +MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO:0016106 Orphanet:178461 Orphanet:206644 progressive muscular dystrophy +MONDO:0010404 X-linked non progressive cerebellar ataxia MONDO:0000001 Orphanet:314978 Orphanet:377788 disease +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome MONDO:0000001 Orphanet:163979 Orphanet:377788 disease +MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0000001 Orphanet:163937 Orphanet:377788 disease +MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0000001 Orphanet:171607 Orphanet:377788 disease +MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0000001 Orphanet:443197 Orphanet:377788 disease +MONDO:0010425 Lisch epithelial corneal dystrophy MONDO:0000001 Orphanet:98955 Orphanet:377788 disease +MONDO:0010426 X-linked endothelial corneal dystrophy MONDO:0000001 Orphanet:293621 Orphanet:377788 disease +MONDO:0010434 synovial sarcoma MONDO:0000001 Orphanet:3273 Orphanet:377788 disease +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0000001 Orphanet:238329 Orphanet:377788 disease +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0000001 Orphanet:363727 Orphanet:377788 disease +MONDO:0010446 X-linked cone dysfunction syndrome with myopia MONDO:0000001 Orphanet:90001 Orphanet:377788 disease +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0000001 Orphanet:280679 Orphanet:377788 disease +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0000001 Orphanet:317476 Orphanet:377788 disease +MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0000001 Orphanet:289483 Orphanet:377788 disease +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0000001 Orphanet:163956 Orphanet:377788 disease +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0000001 Orphanet:163966 Orphanet:377788 disease +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0000001 Orphanet:163961 Orphanet:377788 disease +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0015159 Orphanet:300496 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0000001 Orphanet:324422 Orphanet:377788 disease +MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0000001 Orphanet:324410 Orphanet:377788 disease +MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:0000001 Orphanet:329235 Orphanet:377788 disease +MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO:0000001 Orphanet:329284 Orphanet:377788 disease +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type MONDO:0017393 Orphanet:293707 Orphanet:293642 blepharophimosis - intellectual disability syndrome +MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0000001 Orphanet:356961 Orphanet:377788 disease +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:0000001 Orphanet:352675 Orphanet:377788 disease +MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:0000001 Orphanet:466026 Orphanet:377788 disease +MONDO:0010482 X-linked parkinsonism-spasticity syndrome MONDO:0000001 Orphanet:363654 Orphanet:377788 disease +MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0000001 Orphanet:370927 Orphanet:377788 disease +MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0000001 Orphanet:504530 Orphanet:377788 disease +MONDO:0010518 Wiskott-Aldrich syndrome MONDO:0000001 Orphanet:906 Orphanet:377788 disease +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0000001 Orphanet:85453 Orphanet:377788 disease +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0700264 Orphanet:85453 Orphanet:477647 type 1 interferonopathy +MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0000001 Orphanet:2802 Orphanet:377788 disease +MONDO:0010526 Fabry disease MONDO:0000001 Orphanet:324 Orphanet:377788 disease +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO:0000001 Orphanet:1145 Orphanet:377788 disease +MONDO:0010533 Arts syndrome MONDO:0000001 Orphanet:1187 Orphanet:377788 disease +MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0000001 Orphanet:85292 Orphanet:377788 disease +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0000001 Orphanet:113 Orphanet:377788 disease +MONDO:0010535 Bazex-Dupre-Christol syndrome MONDO:0000001 Orphanet:166113 Orphanet:377788 disease +MONDO:0010540 bullous dystrophy, macular type MONDO:0000001 Orphanet:1867 Orphanet:377788 disease +MONDO:0010541 X-linked calvarial hyperostosis MONDO:0000001 Orphanet:391327 Orphanet:377788 disease +MONDO:0010543 Barth syndrome MONDO:0000001 Orphanet:111 Orphanet:377788 disease +MONDO:0010547 X-linked progressive cerebellar ataxia MONDO:0000001 Orphanet:1175 Orphanet:377788 disease +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0000001 Orphanet:101075 Orphanet:377788 disease +MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0000001 Orphanet:101076 Orphanet:377788 disease +MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0000001 Orphanet:101077 Orphanet:377788 disease +MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:0015775 Orphanet:79345 Orphanet:176 non-rhizomelic chondrodysplasia punctata +MONDO:0010557 choroideremia MONDO:0000001 Orphanet:180 Orphanet:377788 disease +MONDO:0010563 blue cone monochromacy MONDO:0000001 Orphanet:16 Orphanet:377788 disease +MONDO:0010563 blue cone monochromacy MONDO:0001703 Orphanet:16 Orphanet:98658 color vision disorder +MONDO:0010568 Aicardi syndrome MONDO:0000001 Orphanet:50 Orphanet:377788 disease +MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0018233 Orphanet:90652 Orphanet:364541 otopalatodigital syndrome spectrum disorder +MONDO:0010572 occipital horn syndrome MONDO:0000001 Orphanet:198 Orphanet:377788 disease +MONDO:0010572 occipital horn syndrome MONDO:0016175 Orphanet:198 Orphanet:209 cutis laxa +MONDO:0010578 deafness dystonia syndrome MONDO:0000001 Orphanet:52368 Orphanet:377788 disease +MONDO:0010579 X-linked corneal dermoid MONDO:0000001 Orphanet:1661 Orphanet:377788 disease +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0000001 Orphanet:37042 Orphanet:377788 disease +MONDO:0010586 X-linked Ehlers-Danlos syndrome MONDO:0000001 Orphanet:75497 Orphanet:377788 disease +MONDO:0010590 FG syndrome 1 MONDO:0000001 Orphanet:93932 Orphanet:377788 disease +MONDO:0010591 fingerprint body myopathy MONDO:0000001 Orphanet:97232 Orphanet:377788 disease +MONDO:0010602 hemophilia A MONDO:0000001 Orphanet:98878 Orphanet:377788 disease +MONDO:0010604 hemophilia B MONDO:0000001 Orphanet:98879 Orphanet:377788 disease +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland MONDO:0016390 Orphanet:2239 Orphanet:2238 familial hypoparathyroidism +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0000001 Orphanet:89936 Orphanet:377788 disease +MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0000044 Orphanet:89936 Orphanet:437 hereditary hypophosphatemic rickets +MONDO:0010621 CHILD syndrome MONDO:0000001 Orphanet:139 Orphanet:377788 disease +MONDO:0010622 recessive X-linked ichthyosis MONDO:0000001 Orphanet:461 Orphanet:377788 disease +MONDO:0010651 Menkes disease MONDO:0000001 Orphanet:565 Orphanet:377788 disease +MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0000001 Orphanet:3052 Orphanet:377788 disease +MONDO:0010656 intellectual disability, X-linked 1 MONDO:0000001 Orphanet:397933 Orphanet:377788 disease +MONDO:0010659 FRAXE intellectual disability MONDO:0000001 Orphanet:100973 Orphanet:377788 disease +MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0000001 Orphanet:3063 Orphanet:377788 disease +MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0000001 Orphanet:580 Orphanet:377788 disease +MONDO:0010679 Duchenne muscular dystrophy MONDO:0000001 Orphanet:98896 Orphanet:377788 disease +MONDO:0010683 X-linked myotubular myopathy MONDO:0000001 Orphanet:596 Orphanet:377788 disease +MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:0000001 Orphanet:25980 Orphanet:377788 disease +MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0000001 Orphanet:101078 Orphanet:377788 disease +MONDO:0010698 optic atrophy 2 MONDO:0000001 Orphanet:98890 Orphanet:377788 disease +MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0000001 Orphanet:99014 Orphanet:377788 disease +MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0000001 Orphanet:664 Orphanet:377788 disease +MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:0004739 Orphanet:664 Orphanet:79167 urea cycle disorder +MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0018233 Orphanet:90650 Orphanet:364541 otopalatodigital syndrome spectrum disorder +MONDO:0010706 premature ovarian failure 1 MONDO:0000001 Orphanet:642691 Orphanet:377788 disease +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome MONDO:0000001 Orphanet:2379 Orphanet:377788 disease +MONDO:0010713 properdin deficiency, X-linked MONDO:0000001 Orphanet:2966 Orphanet:377788 disease +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0000001 Orphanet:702 Orphanet:377788 disease +MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0024237 Orphanet:702 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0010716 X-linked lethal multiple pterygium syndrome MONDO:0017415 Orphanet:79447 Orphanet:294060 multiple pterygium syndrome +MONDO:0010720 partial androgen insensitivity syndrome MONDO:0000001 Orphanet:90797 Orphanet:377788 disease +MONDO:0010722 X-linked retinal dysplasia MONDO:0000001 Orphanet:1852 Orphanet:377788 disease +MONDO:0010726 Rett syndrome MONDO:0000001 Orphanet:778 Orphanet:377788 disease +MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0000001 Orphanet:99015 Orphanet:377788 disease +MONDO:0010735 Kennedy disease MONDO:0000001 Orphanet:481 Orphanet:377788 disease +MONDO:0010738 spondylometaphyseal dysplasia, Golden type MONDO:0000001 Orphanet:168544 Orphanet:377788 disease +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0000001 Orphanet:231393 Orphanet:377788 disease +MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0000001 Orphanet:53351 Orphanet:377788 disease +MONDO:0010758 Wieacker-Wolff syndrome MONDO:0015168 Orphanet:3454 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0010771 histiocytoid cardiomyopathy MONDO:0000001 Orphanet:137675 Orphanet:377788 disease +MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0000001 Orphanet:2596 Orphanet:377788 disease +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency MONDO:0000001 Orphanet:254864 Orphanet:377788 disease +MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0000001 Orphanet:1670 Orphanet:377788 disease +MONDO:0010787 Kearns-Sayre syndrome MONDO:0000001 Orphanet:480 Orphanet:377788 disease +MONDO:0010787 Kearns-Sayre syndrome MONDO:0009637 Orphanet:480 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0010788 Leber hereditary optic neuropathy MONDO:0000001 Orphanet:104 Orphanet:377788 disease +MONDO:0010789 MELAS syndrome MONDO:0000001 Orphanet:550 Orphanet:377788 disease +MONDO:0010789 MELAS syndrome MONDO:0009637 Orphanet:550 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0010790 MERRF syndrome MONDO:0000001 Orphanet:551 Orphanet:377788 disease +MONDO:0010790 MERRF syndrome MONDO:0009637 Orphanet:551 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0010792 lethal infantile mitochondrial myopathy MONDO:0000001 Orphanet:254857 Orphanet:377788 disease +MONDO:0010794 NARP syndrome MONDO:0000001 Orphanet:644 Orphanet:377788 disease +MONDO:0010797 Pearson syndrome MONDO:0000001 Orphanet:699 Orphanet:377788 disease +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0000001 Orphanet:2255 Orphanet:377788 disease +MONDO:0010808 fatal familial insomnia MONDO:0000001 Orphanet:466 Orphanet:377788 disease +MONDO:0010816 Qazi Markouizos syndrome MONDO:0000001 Orphanet:3010 Orphanet:377788 disease +MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0000001 Orphanet:2983 Orphanet:377788 disease +MONDO:0010826 childhood absence epilepsy MONDO:0000001 Orphanet:64280 Orphanet:377788 disease +MONDO:0010829 CARASIL syndrome MONDO:0000001 Orphanet:199354 Orphanet:377788 disease +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0000001 Orphanet:228354 Orphanet:377788 disease +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0016295 Orphanet:228354 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0000001 Orphanet:1216 Orphanet:377788 disease +MONDO:0010847 spinocerebellar ataxia type 4 MONDO:0000001 Orphanet:98765 Orphanet:377788 disease +MONDO:0010848 spinocerebellar ataxia type 5 MONDO:0000001 Orphanet:98766 Orphanet:377788 disease +MONDO:0010849 palmoplantar keratoderma, Bothnian type MONDO:0000001 Orphanet:2337 Orphanet:377788 disease +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0000001 Orphanet:88924 Orphanet:377788 disease +MONDO:0010857 semantic dementia MONDO:0000001 Orphanet:100069 Orphanet:377788 disease +MONDO:0010857 semantic dementia MONDO:0017276 Orphanet:100069 Orphanet:282 frontotemporal dementia +MONDO:0010857 semantic dementia MONDO:0019806 Orphanet:100069 Orphanet:95432 primary progressive aphasia +MONDO:0010870 tibial muscular dystrophy MONDO:0000001 Orphanet:609 Orphanet:377788 disease +MONDO:0010870 tibial muscular dystrophy MONDO:0016191 Orphanet:609 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0000001 Orphanet:64751 Orphanet:377788 disease +MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0000001 Orphanet:100988 Orphanet:377788 disease +MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0000001 Orphanet:3387 Orphanet:377788 disease +MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0000001 Orphanet:101046 Orphanet:377788 disease +MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type MONDO:0000001 Orphanet:163662 Orphanet:377788 disease +MONDO:0010907 familial hypertryptophanemia MONDO:0000001 Orphanet:2224 Orphanet:377788 disease +MONDO:0010908 loose anagen syndrome MONDO:0000001 Orphanet:168 Orphanet:377788 disease +MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0000001 Orphanet:2965 Orphanet:377788 disease +MONDO:0010921 nasal dermoid cyst MONDO:0015476 Orphanet:141103 Orphanet:155835 cysts and fistulae of the face and oral cavity +MONDO:0010922 Satoyoshi syndrome MONDO:0000001 Orphanet:3130 Orphanet:377788 disease +MONDO:0010923 proximal myopathy with focal depletion of mitochondria MONDO:0000001 Orphanet:521305 Orphanet:377788 disease +MONDO:0010924 D-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:79315 Orphanet:377788 disease +MONDO:0010932 progressive bifocal chorioretinal atrophy MONDO:0000001 Orphanet:75373 Orphanet:377788 disease +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0000001 Orphanet:35078 Orphanet:377788 disease +MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0000001 Orphanet:69663 Orphanet:377788 disease +MONDO:0010947 Budd-Chiari syndrome MONDO:0000001 Orphanet:131 Orphanet:377788 disease +MONDO:0010949 Charcot-Marie-Tooth disease type 2B MONDO:0000001 Orphanet:99936 Orphanet:377788 disease +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts MONDO:0000001 Orphanet:163 Orphanet:377788 disease +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma MONDO:0000001 Orphanet:530838 Orphanet:377788 disease +MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:0000001 Orphanet:89838 Orphanet:377788 disease +MONDO:0010977 Brody myopathy MONDO:0000001 Orphanet:53347 Orphanet:377788 disease +MONDO:0010983 dystonia 9 MONDO:0000001 Orphanet:53583 Orphanet:377788 disease +MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0000001 Orphanet:1117 Orphanet:377788 disease +MONDO:0010988 aplasia cutis-myopia syndrome MONDO:0019294 Orphanet:1117 Orphanet:79380 mixed dermis disorder +MONDO:0010995 Charcot-Marie-Tooth disease type 1C MONDO:0000001 Orphanet:101083 Orphanet:377788 disease +MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0000001 Orphanet:79321 Orphanet:377788 disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0000001 Orphanet:447753 Orphanet:377788 disease +MONDO:0011006 hereditary spastic paraplegia 9A MONDO:0015087 Orphanet:447753 Orphanet:100979 autosomal dominant complex spastic paraplegia +MONDO:0011012 African iron overload MONDO:0000001 Orphanet:139507 Orphanet:377788 disease +MONDO:0011012 African iron overload MONDO:0017763 Orphanet:139507 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0011014 pleuropulmonary blastoma MONDO:0000001 Orphanet:64742 Orphanet:377788 disease +MONDO:0011017 Naxos disease MONDO:0000001 Orphanet:34217 Orphanet:377788 disease +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0000001 Orphanet:1014 Orphanet:377788 disease +MONDO:0011023 hereditary mixed polyposis syndrome MONDO:0000001 Orphanet:157794 Orphanet:377788 disease +MONDO:0011025 Cayman type cerebellar ataxia MONDO:0000001 Orphanet:94122 Orphanet:377788 disease +MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0000001 Orphanet:219 Orphanet:377788 disease +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0000001 Orphanet:1171 Orphanet:377788 disease +MONDO:0011060 early-onset non-syndromic cataract MONDO:0000001 Orphanet:91492 Orphanet:377788 disease +MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 MONDO:0000001 Orphanet:99955 Orphanet:377788 disease +MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0000001 Orphanet:71290 Orphanet:377788 disease +MONDO:0011073 diabetes mellitus, transient neonatal, 1 MONDO:0000001 Orphanet:99886 Orphanet:377788 disease +MONDO:0011073 diabetes mellitus, transient neonatal, 1 MONDO:0016391 Orphanet:99886 Orphanet:224 neonatal diabetes mellitus +MONDO:0011076 myofibrillar myopathy 1 MONDO:0000001 Orphanet:98909 Orphanet:377788 disease +MONDO:0011085 Charcot-Marie-Tooth disease type 4D MONDO:0000001 Orphanet:99950 Orphanet:377788 disease +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0000001 Orphanet:331206 Orphanet:377788 disease +MONDO:0011091 Charcot-Marie-Tooth disease type 2D MONDO:0000001 Orphanet:99938 Orphanet:377788 disease +MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0000001 Orphanet:67041 Orphanet:377788 disease +MONDO:0011099 human HOXA1 syndromes MONDO:0000001 Orphanet:69739 Orphanet:377788 disease +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type MONDO:0000001 Orphanet:166016 Orphanet:377788 disease +MONDO:0011113 Charcot-Marie-Tooth disease type 4C MONDO:0000001 Orphanet:99949 Orphanet:377788 disease +MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome MONDO:0000001 Orphanet:168451 Orphanet:377788 disease +MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0000001 Orphanet:169095 Orphanet:377788 disease +MONDO:0011136 Quebec platelet disorder MONDO:0000001 Orphanet:220436 Orphanet:377788 disease +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0000001 Orphanet:2953 Orphanet:377788 disease +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0000001 Orphanet:228363 Orphanet:377788 disease +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0016295 Orphanet:228363 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0000001 Orphanet:363741 Orphanet:377788 disease +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0000001 Orphanet:363665 Orphanet:377788 disease +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:0000001 Orphanet:281201 Orphanet:377788 disease +MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:0000001 Orphanet:34514 Orphanet:377788 disease +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0000001 Orphanet:30924 Orphanet:377788 disease +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0015962 Orphanet:30924 Orphanet:183592 inherited renal tubular disease +MONDO:0011176 intestinal hypomagnesemia 1 MONDO:0017765 Orphanet:30924 Orphanet:309848 disorder of magnesium transport +MONDO:0011178 infantile convulsions and choreoathetosis MONDO:0000001 Orphanet:31709 Orphanet:377788 disease +MONDO:0011184 childhood apraxia of speech MONDO:0000001 Orphanet:209908 Orphanet:377788 disease +MONDO:0011185 Thiel-Behnke corneal dystrophy MONDO:0000001 Orphanet:98960 Orphanet:377788 disease +MONDO:0011197 hereditary thermosensitive neuropathy MONDO:0000001 Orphanet:84093 Orphanet:377788 disease +MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type MONDO:0000001 Orphanet:93356 Orphanet:377788 disease +MONDO:0011202 RHYNS syndrome MONDO:0000001 Orphanet:140976 Orphanet:377788 disease +MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0000001 Orphanet:168549 Orphanet:377788 disease +MONDO:0011217 desmosterolosis MONDO:0000001 Orphanet:35107 Orphanet:377788 disease +MONDO:0011217 desmosterolosis MONDO:0019240 Orphanet:35107 Orphanet:79195 sterol biosynthesis disorder +MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0000001 Orphanet:91132 Orphanet:377788 disease +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0000001 Orphanet:357043 Orphanet:377788 disease +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0024237 Orphanet:357043 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0024257 Orphanet:357043 Orphanet:98505 hereditary motor neuron disease +MONDO:0011224 monomelic amyotrophy MONDO:0000001 Orphanet:65684 Orphanet:377788 disease +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0000001 Orphanet:275 Orphanet:377788 disease +MONDO:0011229 ethylmalonic encephalopathy MONDO:0000001 Orphanet:51188 Orphanet:377788 disease +MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0000001 Orphanet:79299 Orphanet:377788 disease +MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome MONDO:0000001 Orphanet:468672 Orphanet:377788 disease +MONDO:0011246 megaconial type congenital muscular dystrophy MONDO:0000001 Orphanet:280671 Orphanet:377788 disease +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type MONDO:0000001 Orphanet:93352 Orphanet:377788 disease +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0000001 Orphanet:357158 Orphanet:377788 disease +MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0000001 Orphanet:79319 Orphanet:377788 disease +MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0000001 Orphanet:163649 Orphanet:377788 disease +MONDO:0011264 torsion dystonia 6 MONDO:0000001 Orphanet:98806 Orphanet:377788 disease +MONDO:0011266 myotonic dystrophy type 2 MONDO:0000001 Orphanet:606 Orphanet:377788 disease +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0000001 Orphanet:79320 Orphanet:377788 disease +MONDO:0011299 Huntington disease-like 1 MONDO:0000001 Orphanet:157941 Orphanet:377788 disease +MONDO:0011301 pseudohypoparathyroidism type 1B MONDO:0000001 Orphanet:94089 Orphanet:377788 disease +MONDO:0011308 GRACILE syndrome MONDO:0000001 Orphanet:53693 Orphanet:377788 disease +MONDO:0011309 familial gestational hyperthyroidism MONDO:0000001 Orphanet:99819 Orphanet:377788 disease +MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0000001 Orphanet:2289 Orphanet:377788 disease +MONDO:0011330 spinocerebellar ataxia type 10 MONDO:0000001 Orphanet:98761 Orphanet:377788 disease +MONDO:0011331 congenital chylothorax MONDO:0000001 Orphanet:264688 Orphanet:377788 disease +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0000001 Orphanet:93360 Orphanet:377788 disease +MONDO:0011338 Omenn syndrome MONDO:0000001 Orphanet:39041 Orphanet:377788 disease +MONDO:0011339 hereditary spastic paraplegia 8 MONDO:0000001 Orphanet:100989 Orphanet:377788 disease +MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0000001 Orphanet:238459 Orphanet:377788 disease +MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:0000001 Orphanet:178464 Orphanet:377788 disease +MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:0016191 Orphanet:178464 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0017393 Orphanet:3047 Orphanet:293642 blepharophimosis - intellectual disability syndrome +MONDO:0011382 sickle cell anemia MONDO:0000001 Orphanet:232 Orphanet:377788 disease +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:0000001 Orphanet:2478 Orphanet:377788 disease +MONDO:0011396 loricrin keratoderma MONDO:0000001 Orphanet:79395 Orphanet:377788 disease +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0000001 Orphanet:314404 Orphanet:377788 disease +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa MONDO:0000001 Orphanet:89843 Orphanet:377788 disease +MONDO:0011399 alpha thalassemia spectrum MONDO:0000001 Orphanet:846 Orphanet:377788 disease +MONDO:0011405 poikiloderma with neutropenia MONDO:0000001 Orphanet:221046 Orphanet:377788 disease +MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0000001 Orphanet:100991 Orphanet:377788 disease +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies MONDO:0000001 Orphanet:85110 Orphanet:377788 disease +MONDO:0011417 hemochromatosis type 3 MONDO:0000001 Orphanet:225123 Orphanet:377788 disease +MONDO:0011420 short stature due to partial GHR deficiency MONDO:0000001 Orphanet:314802 Orphanet:377788 disease +MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0000001 Orphanet:119 Orphanet:377788 disease +MONDO:0011424 Carney triad MONDO:0000001 Orphanet:139411 Orphanet:377788 disease +MONDO:0011426 aceruloplasminemia MONDO:0000001 Orphanet:48818 Orphanet:377788 disease +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 MONDO:0000001 Orphanet:98920 Orphanet:377788 disease +MONDO:0011439 spinocerebellar ataxia type 12 MONDO:0000001 Orphanet:98762 Orphanet:377788 disease +MONDO:0011445 hereditary spastic paraplegia 11 MONDO:0000001 Orphanet:2822 Orphanet:377788 disease +MONDO:0011448 PPARG-related familial partial lipodystrophy MONDO:0000001 Orphanet:79083 Orphanet:377788 disease +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0000001 Orphanet:69126 Orphanet:377788 disease +MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive MONDO:0000001 Orphanet:538096 Orphanet:377788 disease +MONDO:0011464 spinocerebellar ataxia type 11 MONDO:0000001 Orphanet:98767 Orphanet:377788 disease +MONDO:0011466 distal myopathy, Welander type MONDO:0000001 Orphanet:603 Orphanet:377788 disease +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type MONDO:0000001 Orphanet:90117 Orphanet:377788 disease +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency MONDO:0000001 Orphanet:158668 Orphanet:377788 disease +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 MONDO:0000001 Orphanet:99956 Orphanet:377788 disease +MONDO:0011476 MHC class I deficiency MONDO:0000001 Orphanet:34592 Orphanet:377788 disease +MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0000001 Orphanet:443236 Orphanet:377788 disease +MONDO:0011486 congenital muscular dystrophy 1B MONDO:0000001 Orphanet:98893 Orphanet:377788 disease +MONDO:0011487 Huntington disease-like 3 MONDO:0000001 Orphanet:157946 Orphanet:377788 disease +MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0000001 Orphanet:100993 Orphanet:377788 disease +MONDO:0011490 diffuse panbronchiolitis MONDO:0000001 Orphanet:171700 Orphanet:377788 disease +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:0000001 Orphanet:93279 Orphanet:377788 disease +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:0022800 Orphanet:93279 Orphanet:93421 type 2 collagenopathy +MONDO:0011500 Becker nevus syndrome MONDO:0000001 Orphanet:64755 Orphanet:377788 disease +MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0000001 Orphanet:352582 Orphanet:377788 disease +MONDO:0011512 Brooke-Spiegler syndrome MONDO:0000001 Orphanet:79493 Orphanet:377788 disease +MONDO:0011517 pseudohyperaldosteronism type 2 MONDO:0000001 Orphanet:88660 Orphanet:377788 disease +MONDO:0011522 hereditary spastic paraplegia 14 MONDO:0000001 Orphanet:100995 Orphanet:377788 disease +MONDO:0011524 Dianzani autoimmune lymphoproliferative disease MONDO:0000001 Orphanet:275523 Orphanet:377788 disease +MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0000001 Orphanet:99951 Orphanet:377788 disease +MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0000001 Orphanet:98768 Orphanet:377788 disease +MONDO:0011532 hereditary spastic paraplegia 13 MONDO:0000001 Orphanet:100994 Orphanet:377788 disease +MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0000001 Orphanet:99953 Orphanet:377788 disease +MONDO:0011537 macrocephaly-autism syndrome MONDO:0000001 Orphanet:210548 Orphanet:377788 disease +MONDO:0011539 nemaline myopathy 5 MONDO:0000001 Orphanet:98902 Orphanet:377788 disease +MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0000001 Orphanet:98763 Orphanet:377788 disease +MONDO:0011541 dilated cardiomyopathy 1J MONDO:0000001 Orphanet:217622 Orphanet:377788 disease +MONDO:0011551 TH-deficient dopa-responsive dystonia MONDO:0000001 Orphanet:101150 Orphanet:377788 disease +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0000001 Orphanet:98856 Orphanet:377788 disease +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 MONDO:0000001 Orphanet:101101 Orphanet:377788 disease +MONDO:0011576 familial hyperaldosteronism type II MONDO:0000001 Orphanet:404 Orphanet:377788 disease +MONDO:0011576 familial hyperaldosteronism type II MONDO:0021227 Orphanet:404 Orphanet:100091 adrenal gland neoplasm +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia MONDO:0000001 Orphanet:97290 Orphanet:377788 disease +MONDO:0011579 late-onset retinal degeneration MONDO:0000001 Orphanet:67042 Orphanet:377788 disease +MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0000001 Orphanet:65282 Orphanet:377788 disease +MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0000001 Orphanet:401869 Orphanet:377788 disease +MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0000001 Orphanet:319462 Orphanet:377788 disease +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0000001 Orphanet:139552 Orphanet:377788 disease +MONDO:0011595 nonsyndromic congenital nail disorder 7 MONDO:0000001 Orphanet:79144 Orphanet:377788 disease +MONDO:0011599 birdshot chorioretinopathy MONDO:0000001 Orphanet:179 Orphanet:377788 disease +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0000001 Orphanet:247598 Orphanet:377788 disease +MONDO:0011603 GNE myopathy MONDO:0000001 Orphanet:602 Orphanet:377788 disease +MONDO:0011605 generalized basaloid follicular hamartoma syndrome MONDO:0000001 Orphanet:168632 Orphanet:377788 disease +MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0000001 Orphanet:243343 Orphanet:377788 disease +MONDO:0011612 glycine encephalopathy MONDO:0000001 Orphanet:407 Orphanet:377788 disease +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0000001 Orphanet:35701 Orphanet:377788 disease +MONDO:0011624 transaldolase deficiency MONDO:0000001 Orphanet:101028 Orphanet:377788 disease +MONDO:0011628 propionic acidemia MONDO:0000001 Orphanet:35 Orphanet:377788 disease +MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0000001 Orphanet:79330 Orphanet:377788 disease +MONDO:0011631 hemochromatosis type 4 MONDO:0000001 Orphanet:647834 Orphanet:377788 disease +MONDO:0011631 hemochromatosis type 4 MONDO:0000001 Orphanet:648562 Orphanet:377788 disease +MONDO:0011631 hemochromatosis type 4 MONDO:0017763 Orphanet:648562 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0000001 Orphanet:99937 Orphanet:377788 disease +MONDO:0011638 neuroferritinopathy MONDO:0000001 Orphanet:157846 Orphanet:377788 disease +MONDO:0011655 alveolar soft part sarcoma MONDO:0000001 Orphanet:163699 Orphanet:377788 disease +MONDO:0011663 juvenile primary lateral sclerosis MONDO:0000001 Orphanet:247604 Orphanet:377788 disease +MONDO:0011663 juvenile primary lateral sclerosis MONDO:0024257 Orphanet:247604 Orphanet:98505 hereditary motor neuron disease +MONDO:0011664 immunodeficiency due to CD25 deficiency MONDO:0000001 Orphanet:169100 Orphanet:377788 disease +MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0000001 Orphanet:163690 Orphanet:377788 disease +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0000001 Orphanet:230839 Orphanet:377788 disease +MONDO:0011671 Huntington disease-like 2 MONDO:0000001 Orphanet:98934 Orphanet:377788 disease +MONDO:0011672 persistent polyclonal B-cell lymphocytosis MONDO:0000001 Orphanet:300324 Orphanet:377788 disease +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0000001 Orphanet:100044 Orphanet:377788 disease +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0000001 Orphanet:100043 Orphanet:377788 disease +MONDO:0011681 episodic ataxia type 4 MONDO:0000001 Orphanet:79136 Orphanet:377788 disease +MONDO:0011682 episodic ataxia type 3 MONDO:0000001 Orphanet:79135 Orphanet:377788 disease +MONDO:0011683 oculocutaneous albinism type 4 MONDO:0000001 Orphanet:79435 Orphanet:377788 disease +MONDO:0011686 DNA ligase IV deficiency MONDO:0000001 Orphanet:99812 Orphanet:377788 disease +MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F MONDO:0000001 Orphanet:99940 Orphanet:377788 disease +MONDO:0011694 spinocerebellar ataxia type 15/16 MONDO:0000001 Orphanet:98769 Orphanet:377788 disease +MONDO:0011698 glycine N-methyltransferase deficiency MONDO:0000001 Orphanet:289891 Orphanet:377788 disease +MONDO:0011698 glycine N-methyltransferase deficiency MONDO:0019222 Orphanet:289891 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0011706 Kufor-Rakeb syndrome MONDO:0000001 Orphanet:306674 Orphanet:377788 disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0000001 Orphanet:35878 Orphanet:377788 disease +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0004739 Orphanet:35878 Orphanet:79167 urea cycle disorder +MONDO:0011719 gastrointestinal stromal tumor MONDO:0000001 Orphanet:44890 Orphanet:377788 disease +MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0000001 Orphanet:178400 Orphanet:377788 disease +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0000001 Orphanet:397973 Orphanet:377788 disease +MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0000001 Orphanet:71277 Orphanet:377788 disease +MONDO:0011730 fumaric aciduria MONDO:0000001 Orphanet:24 Orphanet:377788 disease +MONDO:0011731 glucose-galactose malabsorption MONDO:0000001 Orphanet:35710 Orphanet:377788 disease +MONDO:0011740 Carney-Stratakis syndrome MONDO:0000001 Orphanet:97286 Orphanet:377788 disease +MONDO:0011744 primary intraosseous venous malformation MONDO:0000001 Orphanet:140436 Orphanet:377788 disease +MONDO:0011749 oculocutaneous albinism type 1B MONDO:0018135 Orphanet:79434 Orphanet:352731 oculocutaneous albinism type 1 +MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0000001 Orphanet:93311 Orphanet:377788 disease +MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0000001 Orphanet:139547 Orphanet:377788 disease +MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:79332 Orphanet:377788 disease +MONDO:0011773 anauxetic dysplasia MONDO:0000001 Orphanet:93347 Orphanet:377788 disease +MONDO:0011776 CINCA syndrome MONDO:0000001 Orphanet:1451 Orphanet:377788 disease +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type MONDO:0000001 Orphanet:166024 Orphanet:377788 disease +MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0000001 Orphanet:98759 Orphanet:377788 disease +MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0000001 Orphanet:79324 Orphanet:377788 disease +MONDO:0011785 hereditary spastic paraplegia 19 MONDO:0000001 Orphanet:100999 Orphanet:377788 disease +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0000001 Orphanet:34515 Orphanet:377788 disease +MONDO:0011790 Amish lethal microcephaly MONDO:0017578 Orphanet:99742 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis MONDO:0000001 Orphanet:293168 Orphanet:377788 disease +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis MONDO:0024257 Orphanet:293168 Orphanet:98505 hereditary motor neuron disease +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0000001 Orphanet:94124 Orphanet:377788 disease +MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0000001 Orphanet:99013 Orphanet:377788 disease +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:0000001 Orphanet:275517 Orphanet:377788 disease +MONDO:0011806 osteofibrous dysplasia MONDO:0000001 Orphanet:488265 Orphanet:377788 disease +MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0000001 Orphanet:2744 Orphanet:377788 disease +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0000001 Orphanet:95434 Orphanet:377788 disease +MONDO:0011816 lathosterolosis MONDO:0000001 Orphanet:46059 Orphanet:377788 disease +MONDO:0011816 lathosterolosis MONDO:0019240 Orphanet:46059 Orphanet:79195 sterol biosynthesis disorder +MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0000001 Orphanet:98772 Orphanet:377788 disease +MONDO:0011830 lissencephaly due to LIS1 mutation MONDO:0000001 Orphanet:95232 Orphanet:377788 disease +MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0000001 Orphanet:98773 Orphanet:377788 disease +MONDO:0011834 spinocerebellar ataxia type 18 MONDO:0000001 Orphanet:98771 Orphanet:377788 disease +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0000001 Orphanet:402082 Orphanet:377788 disease +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0000001 Orphanet:70595 Orphanet:377788 disease +MONDO:0011838 Bothnia retinal dystrophy MONDO:0000001 Orphanet:85128 Orphanet:377788 disease +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0000001 Orphanet:199348 Orphanet:377788 disease +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0000001 Orphanet:65284 Orphanet:377788 disease +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0017578 Orphanet:199348 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0017578 Orphanet:65284 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0011855 granular corneal dystrophy type II MONDO:0000001 Orphanet:98963 Orphanet:377788 disease +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0000001 Orphanet:168552 Orphanet:377788 disease +MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0000001 Orphanet:101004 Orphanet:377788 disease +MONDO:0011870 annular epidermolytic ichthyosis MONDO:0000001 Orphanet:281139 Orphanet:377788 disease +MONDO:0011870 annular epidermolytic ichthyosis MONDO:0017266 Orphanet:281139 Orphanet:281103 keratinopathic ichthyosis +MONDO:0011871 Niemann-Pick disease type B MONDO:0000001 Orphanet:77293 Orphanet:377788 disease +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0000001 Orphanet:59303 Orphanet:377788 disease +MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:0017198 Orphanet:2783 Orphanet:2781 osteopetrosis +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:293165 Orphanet:377788 disease +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome MONDO:0000001 Orphanet:307766 Orphanet:377788 disease +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:307936 Orphanet:377788 disease +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome MONDO:0000001 Orphanet:91500 Orphanet:377788 disease +MONDO:0011886 torsion dystonia 13 MONDO:0000001 Orphanet:98807 Orphanet:377788 disease +MONDO:0011888 immunodeficiency 67 MONDO:0000001 Orphanet:70592 Orphanet:377788 disease +MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0000001 Orphanet:99942 Orphanet:377788 disease +MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0000001 Orphanet:101084 Orphanet:377788 disease +MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0000001 Orphanet:99939 Orphanet:377788 disease +MONDO:0011895 idiopathic hypereosinophilic syndrome MONDO:0000001 Orphanet:3260 Orphanet:377788 disease +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0004907 Orphanet:2701 Orphanet:79364 alopecia +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0000001 Orphanet:101102 Orphanet:377788 disease +MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0000001 Orphanet:101085 Orphanet:377788 disease +MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0000001 Orphanet:99943 Orphanet:377788 disease +MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0000001 Orphanet:140927 Orphanet:377788 disease +MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0015642 Orphanet:140927 Orphanet:166311 benign partial infantile seizures +MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0000001 Orphanet:79301 Orphanet:377788 disease +MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0000001 Orphanet:86834 Orphanet:377788 disease +MONDO:0011908 juvenile myelomonocytic leukemia MONDO:0020077 Orphanet:86834 Orphanet:98275 myelodysplastic/myeloproliferative disease +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0000001 Orphanet:100046 Orphanet:377788 disease +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K MONDO:0000001 Orphanet:101097 Orphanet:377788 disease +MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults MONDO:0000001 Orphanet:2688 Orphanet:377788 disease +MONDO:0011927 tufted angioma MONDO:0000001 Orphanet:1063 Orphanet:377788 disease +MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0000001 Orphanet:79326 Orphanet:377788 disease +MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0000001 Orphanet:31112 Orphanet:377788 disease +MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0018078 Orphanet:31112 Orphanet:3394 soft tissue sarcoma +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0700264 Orphanet:1855 Orphanet:477647 type 1 interferonopathy +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0000001 Orphanet:284332 Orphanet:377788 disease +MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0000001 Orphanet:88619 Orphanet:377788 disease +MONDO:0011957 retinal macular dystrophy type 2 MONDO:0000001 Orphanet:319640 Orphanet:377788 disease +MONDO:0011959 sweet syndrome MONDO:0000001 Orphanet:3243 Orphanet:377788 disease +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0000001 Orphanet:139564 Orphanet:377788 disease +MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:86309 Orphanet:377788 disease +MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0000001 Orphanet:62 Orphanet:377788 disease +MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0000001 Orphanet:79325 Orphanet:377788 disease +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MONDO:0000001 Orphanet:163727 Orphanet:377788 disease +MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0000001 Orphanet:64739 Orphanet:377788 disease +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0000001 Orphanet:50811 Orphanet:377788 disease +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy MONDO:0000001 Orphanet:99000 Orphanet:377788 disease +MONDO:0011984 synpolydactyly type 2 MONDO:0021651 Orphanet:295197 Orphanet:93403 synpolydactyly +MONDO:0011986 tropical pancreatitis MONDO:0000001 Orphanet:103918 Orphanet:377788 disease +MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0000001 Orphanet:183707 Orphanet:377788 disease +MONDO:0011989 leishmaniasis MONDO:0000001 Orphanet:507 Orphanet:377788 disease +MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0000001 Orphanet:101005 Orphanet:377788 disease +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0000001 Orphanet:521 Orphanet:377788 disease +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0020076 Orphanet:521 Orphanet:98274 myeloproliferative neoplasm +MONDO:0011998 autosomal dominant slowed nerve conduction velocity MONDO:0000001 Orphanet:140481 Orphanet:377788 disease +MONDO:0012004 parathyroid gland carcinoma MONDO:0000001 Orphanet:143 Orphanet:377788 disease +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0000001 Orphanet:100045 Orphanet:377788 disease +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0000001 Orphanet:217055 Orphanet:377788 disease +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0000001 Orphanet:93283 Orphanet:377788 disease +MONDO:0012033 bradyopsia MONDO:0000001 Orphanet:75374 Orphanet:377788 disease +MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:0000001 Orphanet:55595 Orphanet:377788 disease +MONDO:0012043 Reis-Bucklers corneal dystrophy MONDO:0000001 Orphanet:98961 Orphanet:377788 disease +MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0000001 Orphanet:79327 Orphanet:377788 disease +MONDO:0012061 familial sick sinus syndrome MONDO:0000001 Orphanet:166282 Orphanet:377788 disease +MONDO:0012072 familial partial lipodystrophy, Kobberling type MONDO:0000001 Orphanet:79084 Orphanet:377788 disease +MONDO:0012073 ribose-5-P isomerase deficiency MONDO:0000001 Orphanet:440706 Orphanet:377788 disease +MONDO:0012075 oligodontia-cancer predisposition syndrome MONDO:0000001 Orphanet:300576 Orphanet:377788 disease +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0000001 Orphanet:35708 Orphanet:377788 disease +MONDO:0012089 ichthyosis prematurity syndrome MONDO:0000001 Orphanet:88621 Orphanet:377788 disease +MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0000001 Orphanet:64752 Orphanet:377788 disease +MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L MONDO:0000001 Orphanet:99945 Orphanet:377788 disease +MONDO:0012098 spinocerebellar ataxia type 20 MONDO:0000001 Orphanet:101110 Orphanet:377788 disease +MONDO:0012099 AICA-ribosiduria MONDO:0000001 Orphanet:250977 Orphanet:377788 disease +MONDO:0012103 spinocerebellar ataxia type 25 MONDO:0000001 Orphanet:101111 Orphanet:377788 disease +MONDO:0012104 acquired partial lipodystrophy MONDO:0000001 Orphanet:79087 Orphanet:377788 disease +MONDO:0012105 granulomatosis with polyangiitis MONDO:0000001 Orphanet:900 Orphanet:377788 disease +MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type MONDO:0000001 Orphanet:156728 Orphanet:377788 disease +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency MONDO:0000001 Orphanet:73272 Orphanet:377788 disease +MONDO:0012116 spinocerebellar ataxia type 8 MONDO:0000001 Orphanet:98760 Orphanet:377788 disease +MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0000001 Orphanet:79328 Orphanet:377788 disease +MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0000001 Orphanet:79333 Orphanet:377788 disease +MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0000001 Orphanet:79322 Orphanet:377788 disease +MONDO:0012126 familial avascular necrosis of femoral head MONDO:0000001 Orphanet:86820 Orphanet:377788 disease +MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0000001 Orphanet:140922 Orphanet:377788 disease +MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0016191 Orphanet:140922 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0012130 myofibrillar myopathy 2 MONDO:0000001 Orphanet:399058 Orphanet:377788 disease +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0000001 Orphanet:319340 Orphanet:377788 disease +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO:0000001 Orphanet:168577 Orphanet:377788 disease +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0000001 Orphanet:85167 Orphanet:377788 disease +MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0000001 Orphanet:746 Orphanet:377788 disease +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:5 Orphanet:377788 disease +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:88628 Orphanet:377788 disease +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome MONDO:0020046 Orphanet:88628 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia +MONDO:0012181 hereditary spastic paraplegia 27 MONDO:0000001 Orphanet:101007 Orphanet:377788 disease +MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0000001 Orphanet:168555 Orphanet:377788 disease +MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:0000001 Orphanet:300333 Orphanet:377788 disease +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0000001 Orphanet:137681 Orphanet:377788 disease +MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:0000001 Orphanet:55596 Orphanet:377788 disease +MONDO:0012197 idiopathic aplastic anemia MONDO:0000001 Orphanet:88 Orphanet:377788 disease +MONDO:0012198 PCWH syndrome MONDO:0000001 Orphanet:163746 Orphanet:377788 disease +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0000001 Orphanet:424 Orphanet:377788 disease +MONDO:0012204 familial pseudohyperkalemia MONDO:0000001 Orphanet:90044 Orphanet:377788 disease +MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening MONDO:0000001 Orphanet:137678 Orphanet:377788 disease +MONDO:0012208 congenital reticular ichthyosiform erythroderma MONDO:0000001 Orphanet:281190 Orphanet:377788 disease +MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0000001 Orphanet:79323 Orphanet:377788 disease +MONDO:0012213 hereditary spastic paraplegia 26 MONDO:0000001 Orphanet:101006 Orphanet:377788 disease +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000001 Orphanet:266 Orphanet:377788 disease +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000001 Orphanet:268129 Orphanet:377788 disease +MONDO:0012215 myofibrillar myopathy 3 MONDO:0000001 Orphanet:98911 Orphanet:377788 disease +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0000001 Orphanet:397618 Orphanet:377788 disease +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0000001 Orphanet:99947 Orphanet:377788 disease +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 MONDO:0000001 Orphanet:284324 Orphanet:377788 disease +MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MONDO:0000001 Orphanet:567502 Orphanet:377788 disease +MONDO:0012246 spinocerebellar ataxia type 26 MONDO:0000001 Orphanet:101112 Orphanet:377788 disease +MONDO:0012247 spinocerebellar ataxia type 27 MONDO:0000001 Orphanet:98764 Orphanet:377788 disease +MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0000001 Orphanet:86812 Orphanet:377788 disease +MONDO:0012250 Charcot-Marie-Tooth disease type 4H MONDO:0000001 Orphanet:99954 Orphanet:377788 disease +MONDO:0012251 MEDNIK syndrome MONDO:0000001 Orphanet:171851 Orphanet:377788 disease +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia MONDO:0000001 Orphanet:166029 Orphanet:377788 disease +MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses MONDO:0000001 Orphanet:166032 Orphanet:377788 disease +MONDO:0012256 hereditary spastic paraplegia 28 MONDO:0000001 Orphanet:101008 Orphanet:377788 disease +MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0000001 Orphanet:158681 Orphanet:377788 disease +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0000001 Orphanet:79137 Orphanet:377788 disease +MONDO:0012277 myofibrillar myopathy 4 MONDO:0000001 Orphanet:98912 Orphanet:377788 disease +MONDO:0012289 myofibrillar myopathy 5 MONDO:0000001 Orphanet:171445 Orphanet:377788 disease +MONDO:0012290 CEDNIK syndrome MONDO:0000001 Orphanet:66631 Orphanet:377788 disease +MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy MONDO:0000001 Orphanet:320406 Orphanet:377788 disease +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0000001 Orphanet:254875 Orphanet:377788 disease +MONDO:0012316 Majeed syndrome MONDO:0000001 Orphanet:77297 Orphanet:377788 disease +MONDO:0012323 lethal acantholytic epidermolysis bullosa MONDO:0000001 Orphanet:158687 Orphanet:377788 disease +MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0000001 Orphanet:101009 Orphanet:377788 disease +MONDO:0012345 acral peeling skin syndrome MONDO:0000001 Orphanet:263534 Orphanet:377788 disease +MONDO:0012354 platelet-type bleeding disorder 8 MONDO:0000001 Orphanet:36355 Orphanet:377788 disease +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency MONDO:0000001 Orphanet:231154 Orphanet:377788 disease +MONDO:0012368 aminoacylase 1 deficiency MONDO:0000001 Orphanet:137754 Orphanet:377788 disease +MONDO:0012381 hyperinsulinism due to INSR deficiency MONDO:0000001 Orphanet:263458 Orphanet:377788 disease +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0000001 Orphanet:71212 Orphanet:377788 disease +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0000001 Orphanet:75391 Orphanet:377788 disease +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0000001 Orphanet:75325 Orphanet:377788 disease +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0000001 Orphanet:1947 Orphanet:377788 disease +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0016295 Orphanet:1947 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:79157 Orphanet:377788 disease +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0000001 Orphanet:71278 Orphanet:377788 disease +MONDO:0012396 exercise-induced hyperinsulinism MONDO:0000001 Orphanet:165991 Orphanet:377788 disease +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0000001 Orphanet:163681 Orphanet:377788 disease +MONDO:0012401 congenital stromal corneal dystrophy MONDO:0000001 Orphanet:101068 Orphanet:377788 disease +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0000001 Orphanet:79096 Orphanet:377788 disease +MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0000001 Orphanet:399086 Orphanet:377788 disease +MONDO:0012411 giant axonal neuropathy 2 MONDO:0000001 Orphanet:401964 Orphanet:377788 disease +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0000001 Orphanet:228337 Orphanet:377788 disease +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0016295 Orphanet:228337 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0012423 MORM syndrome MONDO:0000001 Orphanet:75858 Orphanet:377788 disease +MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0000001 Orphanet:66634 Orphanet:377788 disease +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0000001 Orphanet:79118 Orphanet:377788 disease +MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements MONDO:0000001 Orphanet:168606 Orphanet:377788 disease +MONDO:0012447 synpolydactyly type 3 MONDO:0021651 Orphanet:295199 Orphanet:93403 synpolydactyly +MONDO:0012449 spinocerebellar ataxia type 23 MONDO:0000001 Orphanet:101108 Orphanet:377788 disease +MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0000001 Orphanet:101109 Orphanet:377788 disease +MONDO:0012453 hereditary spastic paraplegia 31 MONDO:0000001 Orphanet:101011 Orphanet:377788 disease +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:0000001 Orphanet:83639 Orphanet:377788 disease +MONDO:0012475 cone dystrophy with supernormal rod response MONDO:0000001 Orphanet:209932 Orphanet:377788 disease +MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0000001 Orphanet:101010 Orphanet:377788 disease +MONDO:0012479 congenital malabsorptive diarrhea 4 MONDO:0000001 Orphanet:83620 Orphanet:377788 disease +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type MONDO:0000001 Orphanet:168454 Orphanet:377788 disease +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0000001 Orphanet:85164 Orphanet:377788 disease +MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0000001 Orphanet:254920 Orphanet:377788 disease +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0000001 Orphanet:168566 Orphanet:377788 disease +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:0016894 Orphanet:353281 Orphanet:261956 partial deletion of the short arm of chromosome 16 +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion MONDO:0019188 Orphanet:353281 Orphanet:783 Rubinstein-Taybi syndrome +MONDO:0012520 insulin-resistance syndrome type A MONDO:0000001 Orphanet:2297 Orphanet:377788 disease +MONDO:0012521 herpes simplex encephalitis MONDO:0000001 Orphanet:1930 Orphanet:377788 disease +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0000001 Orphanet:85112 Orphanet:377788 disease +MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0000001 Orphanet:254925 Orphanet:377788 disease +MONDO:0012545 neutral lipid storage myopathy MONDO:0000001 Orphanet:98908 Orphanet:377788 disease +MONDO:0012548 Kostmann syndrome MONDO:0000001 Orphanet:99749 Orphanet:377788 disease +MONDO:0012549 autosomal recessive ataxia, Beauce type MONDO:0000001 Orphanet:88644 Orphanet:377788 disease +MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0000001 Orphanet:276152 Orphanet:377788 disease +MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0000001 Orphanet:91131 Orphanet:377788 disease +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0000001 Orphanet:91130 Orphanet:377788 disease +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency MONDO:0000001 Orphanet:90023 Orphanet:377788 disease +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency MONDO:0000001 Orphanet:91135 Orphanet:377788 disease +MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:0000001 Orphanet:747 Orphanet:377788 disease +MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0000001 Orphanet:264675 Orphanet:377788 disease +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0000001 Orphanet:440402 Orphanet:377788 disease +MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0000001 Orphanet:228366 Orphanet:377788 disease +MONDO:0012591 osteogenesis imperfecta type 5 MONDO:0019019 Orphanet:216828 Orphanet:666 osteogenesis imperfecta +MONDO:0012593 brain-lung-thyroid syndrome MONDO:0000001 Orphanet:209905 Orphanet:377788 disease +MONDO:0012594 complement factor I deficiency MONDO:0000001 Orphanet:200418 Orphanet:377788 disease +MONDO:0012605 isolated microphthalmia 5 MONDO:0000001 Orphanet:251279 Orphanet:377788 disease +MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0000001 Orphanet:206580 Orphanet:377788 disease +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0000001 Orphanet:500533 Orphanet:377788 disease +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0000001 Orphanet:137898 Orphanet:377788 disease +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0000001 Orphanet:99901 Orphanet:377788 disease +MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0000001 Orphanet:95428 Orphanet:377788 disease +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0000001 Orphanet:263508 Orphanet:377788 disease +MONDO:0012639 hereditary spastic paraplegia 18 MONDO:0000001 Orphanet:209951 Orphanet:377788 disease +MONDO:0012640 Charcot-Marie-Tooth disease type 4J MONDO:0000001 Orphanet:139515 Orphanet:377788 disease +MONDO:0012643 hereditary spastic paraplegia 32 MONDO:0000001 Orphanet:171622 Orphanet:377788 disease +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:79159 Orphanet:377788 disease +MONDO:0012650 Cernunnos-XLF deficiency MONDO:0000001 Orphanet:169079 Orphanet:377788 disease +MONDO:0012651 spastic ataxia 2 MONDO:0000001 Orphanet:397946 Orphanet:377788 disease +MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0000001 Orphanet:206549 Orphanet:377788 disease +MONDO:0012664 spastic ataxia 3 MONDO:0000001 Orphanet:314603 Orphanet:377788 disease +MONDO:0012669 Legius syndrome MONDO:0021060 Orphanet:137605 Orphanet:536391 RASopathy +MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0000001 Orphanet:199247 Orphanet:377788 disease +MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:0017198 Orphanet:210110 Orphanet:2781 osteopetrosis +MONDO:0012682 immunodeficiency 35 MONDO:0000001 Orphanet:331226 Orphanet:377788 disease +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0000001 Orphanet:137625 Orphanet:377788 disease +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0000001 Orphanet:206554 Orphanet:377788 disease +MONDO:0012703 lissencephaly due to TUBA1A mutation MONDO:0018838 Orphanet:171680 Orphanet:48471 lissencephaly spectrum disorders +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0000001 Orphanet:289377 Orphanet:377788 disease +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy MONDO:0016191 Orphanet:289377 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type MONDO:0000001 Orphanet:163654 Orphanet:377788 disease +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia MONDO:0000001 Orphanet:137908 Orphanet:377788 disease +MONDO:0012719 combined PSAP deficiency MONDO:0000001 Orphanet:139406 Orphanet:377788 disease +MONDO:0012719 combined PSAP deficiency MONDO:0019255 Orphanet:139406 Orphanet:79225 sphingolipidosis +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0000001 Orphanet:263516 Orphanet:377788 disease +MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0000001 Orphanet:247868 Orphanet:377788 disease +MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0017953 Orphanet:247868 Orphanet:324924 hereditary periodic fever syndrome +MONDO:0012725 lipoprotein glomerulopathy MONDO:0000001 Orphanet:329481 Orphanet:377788 disease +MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:0000001 Orphanet:73229 Orphanet:377788 disease +MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0000001 Orphanet:2331 Orphanet:377788 disease +MONDO:0012733 autosomal recessive bestrophinopathy MONDO:0000001 Orphanet:139455 Orphanet:377788 disease +MONDO:0012735 Temple-Baraitser syndrome MONDO:0000001 Orphanet:420561 Orphanet:377788 disease +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal MONDO:0022760 Orphanet:261330 Orphanet:262182 chromosome 22q deletion +MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0000001 Orphanet:57 Orphanet:377788 disease +MONDO:0012755 episodic ataxia type 7 MONDO:0000001 Orphanet:209970 Orphanet:377788 disease +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0000001 Orphanet:137631 Orphanet:377788 disease +MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0000001 Orphanet:171612 Orphanet:377788 disease +MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:244310 Orphanet:377788 disease +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0000001 Orphanet:139485 Orphanet:377788 disease +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0000001 Orphanet:247794 Orphanet:377788 disease +MONDO:0012787 hereditary spastic paraplegia 39 MONDO:0000001 Orphanet:139480 Orphanet:377788 disease +MONDO:0012789 dystonia 16 MONDO:0000001 Orphanet:210571 Orphanet:377788 disease +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0000001 Orphanet:1933 Orphanet:377788 disease +MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0000001 Orphanet:255235 Orphanet:377788 disease +MONDO:0012794 ANE syndrome MONDO:0000001 Orphanet:157954 Orphanet:377788 disease +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency MONDO:0000001 Orphanet:103909 Orphanet:377788 disease +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000001 Orphanet:98811 Orphanet:377788 disease +MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia MONDO:0000001 Orphanet:158684 Orphanet:377788 disease +MONDO:0012809 histiocytoma, Angiomatoid fibrous MONDO:0000001 Orphanet:569164 Orphanet:377788 disease +MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0000001 Orphanet:599373 Orphanet:377788 disease +MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0015650 Orphanet:599373 Orphanet:166463 epilepsy syndrome +MONDO:0012815 Coats plus syndrome MONDO:0000001 Orphanet:313838 Orphanet:377788 disease +MONDO:0012817 Ewing sarcoma MONDO:0000001 Orphanet:319 Orphanet:377788 disease +MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0000001 Orphanet:209916 Orphanet:377788 disease +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0000001 Orphanet:183713 Orphanet:377788 disease +MONDO:0012856 Birk-Barel syndrome MONDO:0000001 Orphanet:166108 Orphanet:377788 disease +MONDO:0012858 primary CD59 deficiency MONDO:0000001 Orphanet:169464 Orphanet:377788 disease +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0000001 Orphanet:178389 Orphanet:377788 disease +MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0017198 Orphanet:178389 Orphanet:2781 osteopetrosis +MONDO:0012866 hereditary spastic paraplegia 35 MONDO:0000001 Orphanet:171629 Orphanet:377788 disease +MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0000001 Orphanet:171617 Orphanet:377788 disease +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0000001 Orphanet:26349 Orphanet:377788 disease +MONDO:0012883 acute promyelocytic leukemia MONDO:0000001 Orphanet:520 Orphanet:377788 disease +MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0000001 Orphanet:324737 Orphanet:377788 disease +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness MONDO:0000001 Orphanet:300284 Orphanet:377788 disease +MONDO:0012895 torsion dystonia 17 MONDO:0000001 Orphanet:370103 Orphanet:377788 disease +MONDO:0012897 congenital factor XI deficiency MONDO:0000001 Orphanet:329 Orphanet:377788 disease +MONDO:0012901 inherited prekallikrein deficiency MONDO:0000001 Orphanet:749 Orphanet:377788 disease +MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:0000001 Orphanet:139441 Orphanet:377788 disease +MONDO:0012911 pseudohypoparathyroidism type 1C MONDO:0000001 Orphanet:79444 Orphanet:377788 disease +MONDO:0012912 pseudopseudohypoparathyroidism MONDO:0000001 Orphanet:79445 Orphanet:377788 disease +MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0000001 Orphanet:171863 Orphanet:377788 disease +MONDO:0012929 Compton-North congenital myopathy MONDO:0000001 Orphanet:210163 Orphanet:377788 disease +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0000001 Orphanet:331176 Orphanet:377788 disease +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency MONDO:0000001 Orphanet:86817 Orphanet:377788 disease +MONDO:0012982 episodic ataxia type 6 MONDO:0000001 Orphanet:209967 Orphanet:377788 disease +MONDO:0012984 PHARC syndrome MONDO:0000001 Orphanet:171848 Orphanet:377788 disease +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0000001 Orphanet:199337 Orphanet:377788 disease +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0000001 Orphanet:70594 Orphanet:377788 disease +MONDO:0012996 AGAT deficiency MONDO:0000001 Orphanet:35704 Orphanet:377788 disease +MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0000001 Orphanet:382 Orphanet:377788 disease +MONDO:0013000 porphyria due to ALA dehydratase deficiency MONDO:0000001 Orphanet:100924 Orphanet:377788 disease +MONDO:0013005 EAST syndrome MONDO:0000001 Orphanet:199343 Orphanet:377788 disease +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type MONDO:0000001 Orphanet:171866 Orphanet:377788 disease +MONDO:0013016 leukocyte adhesion deficiency 3 MONDO:0017198 Orphanet:99844 Orphanet:2781 osteopetrosis +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0000001 Orphanet:210115 Orphanet:377788 disease +MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO:0000001 Orphanet:70591 Orphanet:377788 disease +MONDO:0013026 subepithelial mucinous corneal dystrophy MONDO:0000001 Orphanet:98959 Orphanet:377788 disease +MONDO:0013027 posterior amorphous corneal dystrophy MONDO:0000001 Orphanet:98971 Orphanet:377788 disease +MONDO:0013028 adenosine monophosphate deaminase deficiency MONDO:0000001 Orphanet:45 Orphanet:377788 disease +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0000001 Orphanet:99849 Orphanet:377788 disease +MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0000001 Orphanet:263494 Orphanet:377788 disease +MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0000001 Orphanet:357064 Orphanet:377788 disease +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0000001 Orphanet:353217 Orphanet:377788 disease +MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0020070 Orphanet:353217 Orphanet:98257 neonatal epilepsy syndrome +MONDO:0013058 cystic leukoencephalopathy without megalencephaly MONDO:0000001 Orphanet:85136 Orphanet:377788 disease +MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0000001 Orphanet:199351 Orphanet:377788 disease +MONDO:0013061 myofibrillar myopathy 6 MONDO:0000001 Orphanet:199340 Orphanet:377788 disease +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0000001 Orphanet:227976 Orphanet:377788 disease +MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0000001 Orphanet:2396 Orphanet:377788 disease +MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0000001 Orphanet:538963 Orphanet:377788 disease +MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO:0000001 Orphanet:95494 Orphanet:377788 disease +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0000001 Orphanet:217382 Orphanet:377788 disease +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0000001 Orphanet:217371 Orphanet:377788 disease +MONDO:0013115 RIN2 syndrome MONDO:0016175 Orphanet:217335 Orphanet:209 cutis laxa +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0000001 Orphanet:330054 Orphanet:377788 disease +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015461 Orphanet:93270 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0015461 Orphanet:93271 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0000001 Orphanet:320365 Orphanet:377788 disease +MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles MONDO:0000001 Orphanet:217407 Orphanet:377788 disease +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0000001 Orphanet:217467 Orphanet:377788 disease +MONDO:0013144 hereditary antithrombin deficiency MONDO:0000001 Orphanet:82 Orphanet:377788 disease +MONDO:0013150 parkinsonism-dystonia, infantile MONDO:0000001 Orphanet:238455 Orphanet:377788 disease +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0000001 Orphanet:206564 Orphanet:377788 disease +MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0000001 Orphanet:206559 Orphanet:377788 disease +MONDO:0013164 beta-ureidopropionase deficiency MONDO:0000001 Orphanet:65287 Orphanet:377788 disease +MONDO:0013165 hereditary spastic paraplegia 45 MONDO:0000001 Orphanet:320396 Orphanet:377788 disease +MONDO:0013166 GABA aminotransaminase deficiency MONDO:0000001 Orphanet:2066 Orphanet:377788 disease +MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0016175 Orphanet:221145 Orphanet:209 cutis laxa +MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0000001 Orphanet:760 Orphanet:377788 disease +MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0000001 Orphanet:363992 Orphanet:377788 disease +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:0000001 Orphanet:34520 Orphanet:377788 disease +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0000001 Orphanet:157973 Orphanet:377788 disease +MONDO:0013179 hereditary spastic paraplegia 44 MONDO:0000001 Orphanet:320401 Orphanet:377788 disease +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO:0000001 Orphanet:92050 Orphanet:377788 disease +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0000001 Orphanet:309854 Orphanet:377788 disease +MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N MONDO:0000001 Orphanet:228174 Orphanet:377788 disease +MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0000001 Orphanet:399096 Orphanet:377788 disease +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0019694 Orphanet:401979 Orphanet:93434 spondylodysplastic dysplasia +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies MONDO:0000001 Orphanet:221139 Orphanet:377788 disease +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:0000001 Orphanet:465 Orphanet:377788 disease +MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia MONDO:0000001 Orphanet:228387 Orphanet:377788 disease +MONDO:0013229 hot water reflex epilepsy MONDO:0000001 Orphanet:166412 Orphanet:377788 disease +MONDO:0013229 hot water reflex epilepsy MONDO:0017768 Orphanet:166412 Orphanet:310 reflex epilepsy +MONDO:0013232 brachydactylous dwarfism, Mseleni type MONDO:0000001 Orphanet:2619 Orphanet:377788 disease +MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type MONDO:0000001 Orphanet:99642 Orphanet:377788 disease +MONDO:0013239 hereditary spastic paraplegia 41 MONDO:0000001 Orphanet:320355 Orphanet:377788 disease +MONDO:0013241 spinocerebellar ataxia type 30 MONDO:0000001 Orphanet:211017 Orphanet:377788 disease +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0000001 Orphanet:228426 Orphanet:377788 disease +MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency MONDO:0000001 Orphanet:712 Orphanet:377788 disease +MONDO:0013276 Reynolds syndrome MONDO:0000001 Orphanet:779 Orphanet:377788 disease +MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0000001 Orphanet:263501 Orphanet:377788 disease +MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0000001 Orphanet:60 Orphanet:377788 disease +MONDO:0013291 glycogen storage disease XV MONDO:0000001 Orphanet:263297 Orphanet:377788 disease +MONDO:0013291 glycogen storage disease XV MONDO:0002412 Orphanet:263297 Orphanet:79201 disorder of glycogen metabolism +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement MONDO:0000001 Orphanet:168953 Orphanet:377788 disease +MONDO:0013301 aromatase deficiency MONDO:0000001 Orphanet:91 Orphanet:377788 disease +MONDO:0013306 combined oxidative phosphorylation defect type 7 MONDO:0000001 Orphanet:254930 Orphanet:377788 disease +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0000001 Orphanet:95699 Orphanet:377788 disease +MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome MONDO:0019287 Orphanet:247827 Orphanet:79373 ectodermal dysplasia syndrome +MONDO:0013316 occult macular dystrophy MONDO:0000001 Orphanet:247834 Orphanet:377788 disease +MONDO:0013317 torsade-de-pointes syndrome with short coupling interval MONDO:0000001 Orphanet:51084 Orphanet:377788 disease +MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0000001 Orphanet:263487 Orphanet:377788 disease +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0000001 Orphanet:254334 Orphanet:377788 disease +MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0000001 Orphanet:306511 Orphanet:377788 disease +MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0000001 Orphanet:280071 Orphanet:377788 disease +MONDO:0013354 spastic ataxia 4 MONDO:0000001 Orphanet:254343 Orphanet:377788 disease +MONDO:0013355 congenital dyserythropoietic anemia type 4 MONDO:0000001 Orphanet:293825 Orphanet:377788 disease +MONDO:0013359 familial hyperaldosteronism type III MONDO:0000001 Orphanet:251274 Orphanet:377788 disease +MONDO:0013361 congenital prothrombin deficiency MONDO:0000001 Orphanet:325 Orphanet:377788 disease +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0000001 Orphanet:217396 Orphanet:377788 disease +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0017578 Orphanet:217396 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0013387 developmental and epileptic encephalopathy, 7 MONDO:0000001 Orphanet:439218 Orphanet:377788 disease +MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:0000001 Orphanet:254361 Orphanet:377788 disease +MONDO:0013391 sterol carrier protein 2 deficiency MONDO:0000001 Orphanet:163684 Orphanet:377788 disease +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 MONDO:0000001 Orphanet:284289 Orphanet:377788 disease +MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0000001 Orphanet:168558 Orphanet:377788 disease +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0000001 Orphanet:88618 Orphanet:377788 disease +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0019222 Orphanet:88618 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0013408 FADD-related immunodeficiency MONDO:0000001 Orphanet:306550 Orphanet:377788 disease +MONDO:0013417 complement component 3 deficiency MONDO:0000001 Orphanet:280133 Orphanet:377788 disease +MONDO:0013417 complement component 3 deficiency MONDO:0003832 Orphanet:280133 Orphanet:459345 complement deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency MONDO:0000001 Orphanet:331187 Orphanet:377788 disease +MONDO:0013423 immunodeficiency due to MASP-2 deficiency MONDO:0003832 Orphanet:331187 Orphanet:459345 complement deficiency +MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0000001 Orphanet:284984 Orphanet:377788 disease +MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0017310 Orphanet:284984 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0013427 immunodeficiency 31B MONDO:0000001 Orphanet:391311 Orphanet:377788 disease +MONDO:0013433 primary sclerosing cholangitis MONDO:0000001 Orphanet:171 Orphanet:377788 disease +MONDO:0013439 congenital bile acid synthesis defect 3 MONDO:0000001 Orphanet:79302 Orphanet:377788 disease +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0000001 Orphanet:280333 Orphanet:377788 disease +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome MONDO:0000001 Orphanet:404463 Orphanet:377788 disease +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease MONDO:0000001 Orphanet:319651 Orphanet:377788 disease +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0000001 Orphanet:363694 Orphanet:377788 disease +MONDO:0013464 episodic ataxia type 5 MONDO:0000001 Orphanet:211067 Orphanet:377788 disease +MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO:0000001 Orphanet:331190 Orphanet:377788 disease +MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO:0003832 Orphanet:331190 Orphanet:459345 complement deficiency +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0000001 Orphanet:280553 Orphanet:377788 disease +MONDO:0013478 PLIN1-related familial partial lipodystrophy MONDO:0000001 Orphanet:280356 Orphanet:377788 disease +MONDO:0013485 spinocerebellar ataxia type 35 MONDO:0000001 Orphanet:276193 Orphanet:377788 disease +MONDO:0013486 spinocerebellar ataxia type 32 MONDO:0000001 Orphanet:276183 Orphanet:377788 disease +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency MONDO:0000001 Orphanet:169467 Orphanet:377788 disease +MONDO:0013512 hemoglobin H disease MONDO:0011399 Orphanet:93616 Orphanet:846 alpha thalassemia spectrum +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0015333 Orphanet:280576 Orphanet:139033 progeroid syndrome +MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0019303 Orphanet:280576 Orphanet:79389 premature aging syndrome +MONDO:0013526 progressive myoclonic epilepsy type 6 MONDO:0000001 Orphanet:280620 Orphanet:377788 disease +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency MONDO:0000001 Orphanet:140905 Orphanet:377788 disease +MONDO:0013536 heme oxygenase 1 deficiency MONDO:0000001 Orphanet:562509 Orphanet:377788 disease +MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome MONDO:0000001 Orphanet:79507 Orphanet:377788 disease +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0000001 Orphanet:300570 Orphanet:377788 disease +MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0000001 Orphanet:1194 Orphanet:377788 disease +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement MONDO:0000001 Orphanet:63273 Orphanet:377788 disease +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0015159 Orphanet:280633 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly MONDO:0015461 Orphanet:498497 Orphanet:1505 short rib-polydactyly syndrome +MONDO:0013570 combined oxidative phosphorylation defect type 8 MONDO:0000001 Orphanet:319504 Orphanet:377788 disease +MONDO:0013571 acatalasia MONDO:0000001 Orphanet:926 Orphanet:377788 disease +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0000001 Orphanet:183675 Orphanet:377788 disease +MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency MONDO:0000001 Orphanet:289307 Orphanet:377788 disease +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0000001 Orphanet:456318 Orphanet:377788 disease +MONDO:0013594 spinocerebellar ataxia type 36 MONDO:0000001 Orphanet:276198 Orphanet:377788 disease +MONDO:0013595 hyperbiliverdinemia MONDO:0000001 Orphanet:276405 Orphanet:377788 disease +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0000001 Orphanet:391487 Orphanet:377788 disease +MONDO:0013607 monocytopenia with susceptibility to infections MONDO:0000001 Orphanet:228423 Orphanet:377788 disease +MONDO:0013626 psoriasis 14, pustular MONDO:0000001 Orphanet:163931 Orphanet:377788 disease +MONDO:0013626 psoriasis 14, pustular MONDO:0000001 Orphanet:404546 Orphanet:377788 disease +MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O MONDO:0000001 Orphanet:284232 Orphanet:377788 disease +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0000001 Orphanet:284271 Orphanet:377788 disease +MONDO:0013648 familial progressive hyperpigmentation MONDO:0000001 Orphanet:79146 Orphanet:377788 disease +MONDO:0013656 intellectual disability, autosomal dominant 9 MONDO:0000001 Orphanet:662367 Orphanet:377788 disease +MONDO:0013661 combined malonic and methylmalonic acidemia MONDO:0000001 Orphanet:289504 Orphanet:377788 disease +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0000001 Orphanet:443087 Orphanet:377788 disease +MONDO:0013673 Wolfram-like syndrome MONDO:0000001 Orphanet:411590 Orphanet:377788 disease +MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:0000001 Orphanet:289560 Orphanet:377788 disease +MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 MONDO:0000001 Orphanet:401874 Orphanet:377788 disease +MONDO:0013678 EDICT syndrome MONDO:0000001 Orphanet:293936 Orphanet:377788 disease +MONDO:0013686 distal myopathy, Tateyama type MONDO:0000001 Orphanet:488650 Orphanet:377788 disease +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0000001 Orphanet:284282 Orphanet:377788 disease +MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0000001 Orphanet:79150 Orphanet:377788 disease +MONDO:0013692 BAP1-related tumor predisposition syndrome MONDO:0000001 Orphanet:289539 Orphanet:377788 disease +MONDO:0013700 pancreatic triacylglycerol lipase deficiency MONDO:0000001 Orphanet:309031 Orphanet:377788 disease +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0000001 Orphanet:397744 Orphanet:377788 disease +MONDO:0013730 graft versus host disease MONDO:0000001 Orphanet:39812 Orphanet:377788 disease +MONDO:0013731 MEGF10-related myopathy MONDO:0000001 Orphanet:439212 Orphanet:377788 disease +MONDO:0013737 hereditary spastic paraplegia 46 MONDO:0000001 Orphanet:320391 Orphanet:377788 disease +MONDO:0013743 autosomal systemic lupus erythematosus type 16 MONDO:0000001 Orphanet:300345 Orphanet:377788 disease +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0000001 Orphanet:300319 Orphanet:377788 disease +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0000001 Orphanet:99941 Orphanet:377788 disease +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0000001 Orphanet:93114 Orphanet:377788 disease +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0000001 Orphanet:293822 Orphanet:377788 disease +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0015356 Orphanet:293822 Orphanet:140162 hereditary neoplastic syndrome +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0000001 Orphanet:352333 Orphanet:377788 disease +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0000001 Orphanet:293955 Orphanet:377788 disease +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0017578 Orphanet:293955 Orphanet:298644 disorder of thiamine metabolism and transport +MONDO:0013762 lipoic acid synthetase deficiency MONDO:0000001 Orphanet:401859 Orphanet:377788 disease +MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0000001 Orphanet:300359 Orphanet:377788 disease +MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0000001 Orphanet:268114 Orphanet:377788 disease +MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0000001 Orphanet:300293 Orphanet:377788 disease +MONDO:0013772 Huppke-Brendel syndrome MONDO:0000001 Orphanet:300313 Orphanet:377788 disease +MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0000001 Orphanet:436169 Orphanet:377788 disease +MONDO:0013776 spastic ataxia 5 MONDO:0000001 Orphanet:313772 Orphanet:377788 disease +MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0000001 Orphanet:300536 Orphanet:377788 disease +MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0000001 Orphanet:658540 Orphanet:377788 disease +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0000001 Orphanet:313850 Orphanet:377788 disease +MONDO:0013803 leukoencephalopathy with calcifications and cysts MONDO:0000001 Orphanet:542310 Orphanet:377788 disease +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0000001 Orphanet:313846 Orphanet:377788 disease +MONDO:0013808 Maffucci syndrome MONDO:0000001 Orphanet:163634 Orphanet:377788 disease +MONDO:0013808 Maffucci syndrome MONDO:0019060 Orphanet:163634 Orphanet:68411 bone neoplasm +MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0000001 Orphanet:464443 Orphanet:377788 disease +MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000001 Orphanet:319509 Orphanet:377788 disease +MONDO:0013813 dystonia 21 MONDO:0000001 Orphanet:306734 Orphanet:377788 disease +MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0000001 Orphanet:313855 Orphanet:377788 disease +MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0019698 Orphanet:313855 Orphanet:93439 bent bone dysplasia +MONDO:0013825 congenital diarrhea 6 MONDO:0000001 Orphanet:314373 Orphanet:377788 disease +MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0000001 Orphanet:280406 Orphanet:377788 disease +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0000001 Orphanet:254898 Orphanet:377788 disease +MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 MONDO:0000001 Orphanet:314381 Orphanet:377788 disease +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0000001 Orphanet:319678 Orphanet:377788 disease +MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency MONDO:0000001 Orphanet:314376 Orphanet:377788 disease +MONDO:0013851 autosomal dominant aplasia and myelodysplasia MONDO:0000001 Orphanet:314399 Orphanet:377788 disease +MONDO:0013860 idiopathic membranous glomerulonephritis MONDO:0000001 Orphanet:97560 Orphanet:377788 disease +MONDO:0013860 idiopathic membranous glomerulonephritis MONDO:0019722 Orphanet:97560 Orphanet:93548 glomerular disorder +MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0000001 Orphanet:445018 Orphanet:377788 disease +MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0000001 Orphanet:314637 Orphanet:377788 disease +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0000001 Orphanet:314629 Orphanet:377788 disease +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0016295 Orphanet:314629 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0000001 Orphanet:976 Orphanet:377788 disease +MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0000001 Orphanet:314667 Orphanet:377788 disease +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0000001 Orphanet:352328 Orphanet:377788 disease +MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0000001 Orphanet:447784 Orphanet:377788 disease +MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0000001 Orphanet:306504 Orphanet:377788 disease +MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0000001 Orphanet:314647 Orphanet:377788 disease +MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0000001 Orphanet:319160 Orphanet:377788 disease +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0000001 Orphanet:314394 Orphanet:377788 disease +MONDO:0013898 karyomegalic interstitial nephritis MONDO:0000001 Orphanet:401996 Orphanet:377788 disease +MONDO:0013928 dystonia 23 MONDO:0000001 Orphanet:420492 Orphanet:377788 disease +MONDO:0013934 combined immunodeficiency due to STK4 deficiency MONDO:0000001 Orphanet:314689 Orphanet:377788 disease +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:99646 Orphanet:377788 disease +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:0000001 Orphanet:324530 Orphanet:377788 disease +MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0000001 Orphanet:314485 Orphanet:377788 disease +MONDO:0013959 Charcot-Marie-Tooth disease type 4F MONDO:0000001 Orphanet:99952 Orphanet:377788 disease +MONDO:0013960 sinoatrial node dysfunction and deafness MONDO:0000001 Orphanet:324321 Orphanet:377788 disease +MONDO:0013962 hereditary spastic paraplegia 53 MONDO:0000001 Orphanet:319199 Orphanet:377788 disease +MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0000001 Orphanet:319646 Orphanet:377788 disease +MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0000001 Orphanet:324535 Orphanet:377788 disease +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0000001 Orphanet:308410 Orphanet:377788 disease +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0000001 Orphanet:314051 Orphanet:377788 disease +MONDO:0013977 combined oxidative phosphorylation defect type 13 MONDO:0000001 Orphanet:319514 Orphanet:377788 disease +MONDO:0013981 myoclonus, familial MONDO:0000001 Orphanet:319189 Orphanet:377788 disease +MONDO:0013986 combined oxidative phosphorylation defect type 14 MONDO:0000001 Orphanet:319519 Orphanet:377788 disease +MONDO:0013987 combined oxidative phosphorylation defect type 15 MONDO:0000001 Orphanet:319524 Orphanet:377788 disease +MONDO:0013996 focal facial dermal dysplasia type II MONDO:0018363 Orphanet:398173 Orphanet:398166 focal facial dermal dysplasia +MONDO:0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome MONDO:0000001 Orphanet:313800 Orphanet:377788 disease +MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q MONDO:0000001 Orphanet:329258 Orphanet:377788 disease +MONDO:0014013 maternal riboflavin deficiency MONDO:0000001 Orphanet:411712 Orphanet:377788 disease +MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0000001 Orphanet:412189 Orphanet:377788 disease +MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0000001 Orphanet:320411 Orphanet:377788 disease +MONDO:0014016 hereditary spastic paraplegia 49 MONDO:0000001 Orphanet:320385 Orphanet:377788 disease +MONDO:0014018 hereditary spastic paraplegia 54 MONDO:0000001 Orphanet:320380 Orphanet:377788 disease +MONDO:0014019 dystonia 24 MONDO:0000001 Orphanet:420485 Orphanet:377788 disease +MONDO:0014020 hereditary spastic paraplegia 55 MONDO:0000001 Orphanet:320375 Orphanet:377788 disease +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0000001 Orphanet:329178 Orphanet:377788 disease +MONDO:0014024 hereditary spastic paraplegia 43 MONDO:0000001 Orphanet:320370 Orphanet:377788 disease +MONDO:0014025 lower motor neuron syndrome with late-adult onset MONDO:0000001 Orphanet:276435 Orphanet:377788 disease +MONDO:0014028 distal arthrogryposis type 5D MONDO:0000001 Orphanet:329457 Orphanet:377788 disease +MONDO:0014033 dystonia 25 MONDO:0000001 Orphanet:329466 Orphanet:377788 disease +MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:0000001 Orphanet:363686 Orphanet:377788 disease +MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0000001 Orphanet:352447 Orphanet:377788 disease +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0000001 Orphanet:352712 Orphanet:377788 disease +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO:0000001 Orphanet:352718 Orphanet:377788 disease +MONDO:0014061 Steel syndrome MONDO:0000001 Orphanet:438117 Orphanet:377788 disease +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0000001 Orphanet:352470 Orphanet:377788 disease +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0009637 Orphanet:352470 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0014070 oculocutaneous albinism type 7 MONDO:0000001 Orphanet:352745 Orphanet:377788 disease +MONDO:0014072 D,L-2-hydroxyglutaric aciduria MONDO:0000001 Orphanet:356978 Orphanet:377788 disease +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0000001 Orphanet:352670 Orphanet:377788 disease +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0000001 Orphanet:352682 Orphanet:377788 disease +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0000001 Orphanet:357237 Orphanet:377788 disease +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0000001 Orphanet:357329 Orphanet:377788 disease +MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0000001 Orphanet:352662 Orphanet:377788 disease +MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0000001 Orphanet:300298 Orphanet:377788 disease +MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0000001 Orphanet:435651 Orphanet:377788 disease +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity MONDO:0000001 Orphanet:363412 Orphanet:377788 disease +MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0000001 Orphanet:363981 Orphanet:377788 disease +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0000001 Orphanet:369852 Orphanet:377788 disease +MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0000001 Orphanet:363528 Orphanet:377788 disease +MONDO:0014127 oculocutaneous albinism type 5 MONDO:0000001 Orphanet:370091 Orphanet:377788 disease +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0000001 Orphanet:363523 Orphanet:377788 disease +MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0000001 Orphanet:363424 Orphanet:377788 disease +MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0000001 Orphanet:363623 Orphanet:377788 disease +MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0000001 Orphanet:369840 Orphanet:377788 disease +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0000001 Orphanet:352709 Orphanet:377788 disease +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0016295 Orphanet:352709 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0014148 estrogen resistance syndrome MONDO:0000001 Orphanet:785 Orphanet:377788 disease +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0000001 Orphanet:363409 Orphanet:377788 disease +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0000001 Orphanet:369867 Orphanet:377788 disease +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0000001 Orphanet:363649 Orphanet:377788 disease +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 MONDO:0000001 Orphanet:352403 Orphanet:377788 disease +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0000001 Orphanet:397959 Orphanet:377788 disease +MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0000001 Orphanet:352563 Orphanet:377788 disease +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0015159 Orphanet:369837 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency MONDO:0000001 Orphanet:228003 Orphanet:377788 disease +MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0000001 Orphanet:371364 Orphanet:377788 disease +MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency MONDO:0000001 Orphanet:412181 Orphanet:377788 disease +MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0000001 Orphanet:369913 Orphanet:377788 disease +MONDO:0014195 microcornea-myopic chorioretinal atrophy MONDO:0000001 Orphanet:369970 Orphanet:377788 disease +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0000001 Orphanet:397964 Orphanet:377788 disease +MONDO:0014198 mitochondrial DNA depletion syndrome 13 MONDO:0000001 Orphanet:369897 Orphanet:377788 disease +MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0000001 Orphanet:369929 Orphanet:377788 disease +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:0000001 Orphanet:352577 Orphanet:377788 disease +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0000001 Orphanet:440427 Orphanet:377788 disease +MONDO:0014208 Charcot-Marie-Tooth disease type 2R MONDO:0000001 Orphanet:397968 Orphanet:377788 disease +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0000001 Orphanet:352654 Orphanet:377788 disease +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0024237 Orphanet:352654 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome MONDO:0000001 Orphanet:356996 Orphanet:377788 disease +MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO:0000001 Orphanet:363611 Orphanet:377788 disease +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0000001 Orphanet:369992 Orphanet:377788 disease +MONDO:0014221 triosephosphate isomerase deficiency MONDO:0000001 Orphanet:868 Orphanet:377788 disease +MONDO:0014224 developmental delay with autism spectrum disorder and gait instability MONDO:0000001 Orphanet:329195 Orphanet:377788 disease +MONDO:0014225 hemochromatosis type 5 MONDO:0000001 Orphanet:247790 Orphanet:377788 disease +MONDO:0014225 hemochromatosis type 5 MONDO:0017763 Orphanet:247790 Orphanet:309842 disorder of iron metabolism and transport +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:324561 Orphanet:377788 disease +MONDO:0014234 reticulate acropigmentation of Kitamura MONDO:0000001 Orphanet:178307 Orphanet:377788 disease +MONDO:0014243 Schaaf-Yang syndrome MONDO:0000001 Orphanet:398069 Orphanet:377788 disease +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 MONDO:0000001 Orphanet:391397 Orphanet:377788 disease +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0000001 Orphanet:370943 Orphanet:377788 disease +MONDO:0014250 familial hyperprolactinemia MONDO:0000001 Orphanet:397685 Orphanet:377788 disease +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0000001 Orphanet:391376 Orphanet:377788 disease +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0000001 Orphanet:391348 Orphanet:377788 disease +MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0000001 Orphanet:397787 Orphanet:377788 disease +MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0000001 Orphanet:431149 Orphanet:377788 disease +MONDO:0014269 combined oxidative phosphorylation deficiency 19 MONDO:0000001 Orphanet:397593 Orphanet:377788 disease +MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0000001 Orphanet:370921 Orphanet:377788 disease +MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0000001 Orphanet:370924 Orphanet:377788 disease +MONDO:0014272 palmoplantar keratoderma, Nagashima type MONDO:0000001 Orphanet:140966 Orphanet:377788 disease +MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0000001 Orphanet:397951 Orphanet:377788 disease +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0000001 Orphanet:169082 Orphanet:377788 disease +MONDO:0014282 hereditary spastic paraplegia 72 MONDO:0000001 Orphanet:401849 Orphanet:377788 disease +MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0000001 Orphanet:397725 Orphanet:377788 disease +MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0000001 Orphanet:363540 Orphanet:377788 disease +MONDO:0014295 hereditary spastic paraplegia 57 MONDO:0000001 Orphanet:431329 Orphanet:377788 disease +MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0000001 Orphanet:401768 Orphanet:377788 disease +MONDO:0014302 hereditary spastic paraplegia 62 MONDO:0000001 Orphanet:401785 Orphanet:377788 disease +MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0000001 Orphanet:401810 Orphanet:377788 disease +MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0000001 Orphanet:401780 Orphanet:377788 disease +MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0000001 Orphanet:401805 Orphanet:377788 disease +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0000001 Orphanet:404553 Orphanet:377788 disease +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0700264 Orphanet:404553 Orphanet:477647 type 1 interferonopathy +MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0957408 Orphanet:404553 Orphanet:481671 type 1 interferonopathy of childhood +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0000001 Orphanet:221043 Orphanet:377788 disease +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0000001 Orphanet:404499 Orphanet:377788 disease +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0000001 Orphanet:437552 Orphanet:377788 disease +MONDO:0014317 pancytopenia-developmental delay syndrome MONDO:0000001 Orphanet:401764 Orphanet:377788 disease +MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0000001 Orphanet:401777 Orphanet:377788 disease +MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse MONDO:0000001 Orphanet:402003 Orphanet:377788 disease +MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0000001 Orphanet:401945 Orphanet:377788 disease +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0000001 Orphanet:401948 Orphanet:377788 disease +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0004739 Orphanet:401948 Orphanet:79167 urea cycle disorder +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0000001 Orphanet:280142 Orphanet:377788 disease +MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0000001 Orphanet:477661 Orphanet:377788 disease +MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0000001 Orphanet:412057 Orphanet:377788 disease +MONDO:0014342 female infertility due to zona pellucida defect MONDO:0000001 Orphanet:404466 Orphanet:377788 disease +MONDO:0014353 immunodeficiency 23 MONDO:0000001 Orphanet:443811 Orphanet:377788 disease +MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0000001 Orphanet:476096 Orphanet:377788 disease +MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0000001 Orphanet:352490 Orphanet:377788 disease +MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0000001 Orphanet:329242 Orphanet:377788 disease +MONDO:0014386 platelet-type bleeding disorder 18 MONDO:0000001 Orphanet:420566 Orphanet:377788 disease +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0000001 Orphanet:397937 Orphanet:377788 disease +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0000001 Orphanet:420573 Orphanet:377788 disease +MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0000001 Orphanet:420728 Orphanet:377788 disease +MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0000001 Orphanet:420733 Orphanet:377788 disease +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0000001 Orphanet:438134 Orphanet:377788 disease +MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0024237 Orphanet:438134 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0000001 Orphanet:329191 Orphanet:377788 disease +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy MONDO:0000001 Orphanet:363400 Orphanet:377788 disease +MONDO:0014403 short stature due to GHSR deficiency MONDO:0000001 Orphanet:314811 Orphanet:377788 disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0000001 Orphanet:425120 Orphanet:377788 disease +MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0700264 Orphanet:425120 Orphanet:477647 type 1 interferonopathy +MONDO:0014410 spinocerebellar ataxia type 37 MONDO:0000001 Orphanet:363710 Orphanet:377788 disease +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0000001 Orphanet:438159 Orphanet:377788 disease +MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0000001 Orphanet:423296 Orphanet:377788 disease +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0000001 Orphanet:370022 Orphanet:377788 disease +MONDO:0014420 short stature due to primary acid-labile subunit deficiency MONDO:0000001 Orphanet:140941 Orphanet:377788 disease +MONDO:0014421 glucocorticoid resistance MONDO:0000001 Orphanet:786 Orphanet:377788 disease +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0000001 Orphanet:317425 Orphanet:377788 disease +MONDO:0014431 LIPE-related familial partial lipodystrophy MONDO:0000001 Orphanet:435660 Orphanet:377788 disease +MONDO:0014449 congenital analbuminemia MONDO:0000001 Orphanet:86816 Orphanet:377788 disease +MONDO:0014449 congenital analbuminemia MONDO:0005570 Orphanet:86816 Orphanet:97992 hematologic disorder +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0000001 Orphanet:436174 Orphanet:377788 disease +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0000001 Orphanet:423384 Orphanet:377788 disease +MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0000001 Orphanet:423454 Orphanet:377788 disease +MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0000001 Orphanet:431361 Orphanet:377788 disease +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0000001 Orphanet:435998 Orphanet:377788 disease +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0000001 Orphanet:254913 Orphanet:377788 disease +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0000001 Orphanet:436166 Orphanet:377788 disease +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0000001 Orphanet:352479 Orphanet:377788 disease +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0016155 Orphanet:352479 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +MONDO:0014475 spinocerebellar ataxia type 40 MONDO:0000001 Orphanet:423275 Orphanet:377788 disease +MONDO:0014476 episodic ataxia type 8 MONDO:0000001 Orphanet:401953 Orphanet:377788 disease +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MONDO:0000001 Orphanet:397758 Orphanet:377788 disease +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0000001 Orphanet:369861 Orphanet:377788 disease +MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0000001 Orphanet:445110 Orphanet:377788 disease +MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency MONDO:0000001 Orphanet:438075 Orphanet:377788 disease +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:420686 Orphanet:377788 disease +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0000001 Orphanet:436159 Orphanet:377788 disease +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0000001 Orphanet:436245 Orphanet:377788 disease +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0000001 Orphanet:453533 Orphanet:377788 disease +MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0000001 Orphanet:576349 Orphanet:377788 disease +MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0017953 Orphanet:576349 Orphanet:324924 hereditary periodic fever syndrome +MONDO:0014500 atrial conduction disease MONDO:0000001 Orphanet:436242 Orphanet:377788 disease +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0000001 Orphanet:453521 Orphanet:377788 disease +MONDO:0014506 hypomyelinating leukodystrophy 9 MONDO:0000001 Orphanet:438114 Orphanet:377788 disease +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0000001 Orphanet:438178 Orphanet:377788 disease +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency MONDO:0017986 Orphanet:438178 Orphanet:3276 disorder of plasmalogens biosynthesis +MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S MONDO:0000001 Orphanet:443073 Orphanet:377788 disease +MONDO:0014518 platelet-type bleeding disorder 19 MONDO:0000001 Orphanet:438207 Orphanet:377788 disease +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0000001 Orphanet:444048 Orphanet:377788 disease +MONDO:0014521 progressive myoclonic epilepsy type 7 MONDO:0000001 Orphanet:435438 Orphanet:377788 disease +MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0000001 Orphanet:445062 Orphanet:377788 disease +MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0000001 Orphanet:444013 Orphanet:377788 disease +MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0000001 Orphanet:456369 Orphanet:377788 disease +MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0002412 Orphanet:456369 Orphanet:79201 disorder of glycogen metabolism +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0000001 Orphanet:435953 Orphanet:377788 disease +MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0000001 Orphanet:435988 Orphanet:377788 disease +MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0000001 Orphanet:457050 Orphanet:377788 disease +MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO:0000001 Orphanet:424027 Orphanet:377788 disease +MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload MONDO:0000001 Orphanet:88635 Orphanet:377788 disease +MONDO:0014547 combined oxidative phosphorylation defect type 24 MONDO:0000001 Orphanet:444458 Orphanet:377788 disease +MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0000001 Orphanet:459033 Orphanet:377788 disease +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0000001 Orphanet:457212 Orphanet:377788 disease +MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0000001 Orphanet:445038 Orphanet:377788 disease +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0000001 Orphanet:457185 Orphanet:377788 disease +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0000001 Orphanet:653880 Orphanet:377788 disease +MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0000001 Orphanet:397735 Orphanet:377788 disease +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0000001 Orphanet:477673 Orphanet:377788 disease +MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0000001 Orphanet:444099 Orphanet:377788 disease +MONDO:0014572 Lichtenstein-Knorr syndrome MONDO:0000001 Orphanet:448251 Orphanet:377788 disease +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0000001 Orphanet:444138 Orphanet:377788 disease +MONDO:0014576 lipoyl transferase 1 deficiency MONDO:0000001 Orphanet:401862 Orphanet:377788 disease +MONDO:0014597 immunodeficiency 39 MONDO:0000001 Orphanet:574918 Orphanet:377788 disease +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0000001 Orphanet:468678 Orphanet:377788 disease +MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0000001 Orphanet:457406 Orphanet:377788 disease +MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0024237 Orphanet:457406 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma MONDO:0000001 Orphanet:448264 Orphanet:377788 disease +MONDO:0014626 spinocerebellar ataxia type 41 MONDO:0000001 Orphanet:458798 Orphanet:377788 disease +MONDO:0014627 dystonia 27 MONDO:0000001 Orphanet:464440 Orphanet:377788 disease +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0000001 Orphanet:444092 Orphanet:377788 disease +MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0000001 Orphanet:447954 Orphanet:377788 disease +MONDO:0014637 DOCK2 deficiency MONDO:0000001 Orphanet:447737 Orphanet:377788 disease +MONDO:0014644 hereditary spastic paraplegia 74 MONDO:0000001 Orphanet:468661 Orphanet:377788 disease +MONDO:0014645 BENTA disease MONDO:0000001 Orphanet:464336 Orphanet:377788 disease +MONDO:0014647 developmental and epileptic encephalopathy, 50 MONDO:0000001 Orphanet:448010 Orphanet:377788 disease +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0000001 Orphanet:85165 Orphanet:377788 disease +MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0000001 Orphanet:478664 Orphanet:377788 disease +MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0000001 Orphanet:447964 Orphanet:377788 disease +MONDO:0014684 combined oxidative phosphorylation defect type 26 MONDO:0000001 Orphanet:477684 Orphanet:377788 disease +MONDO:0014685 progressive myoclonic epilepsy type 9 MONDO:0000001 Orphanet:457265 Orphanet:377788 disease +MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type MONDO:0000001 Orphanet:459051 Orphanet:377788 disease +MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0000001 Orphanet:447760 Orphanet:377788 disease +MONDO:0014707 14q32 duplication syndrome MONDO:0000001 Orphanet:488280 Orphanet:377788 disease +MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0000001 Orphanet:488333 Orphanet:377788 disease +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:0000001 Orphanet:431166 Orphanet:377788 disease +MONDO:0014717 early-onset Lafora body disease MONDO:0000001 Orphanet:324290 Orphanet:377788 disease +MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0000001 Orphanet:457375 Orphanet:377788 disease +MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0000001 Orphanet:1215 Orphanet:377788 disease +MONDO:0014722 Roifman syndrome MONDO:0000001 Orphanet:353298 Orphanet:377788 disease +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0000001 Orphanet:447997 Orphanet:377788 disease +MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0000001 Orphanet:466775 Orphanet:377788 disease +MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0000001 Orphanet:477774 Orphanet:377788 disease +MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0000001 Orphanet:459056 Orphanet:377788 disease +MONDO:0014731 seizures-scoliosis-macrocephaly syndrome MONDO:0000001 Orphanet:466926 Orphanet:377788 disease +MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0000001 Orphanet:466934 Orphanet:377788 disease +MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0000001 Orphanet:391351 Orphanet:377788 disease +MONDO:0014735 Charcot-Marie-Tooth disease type 2Y MONDO:0000001 Orphanet:435387 Orphanet:377788 disease +MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z MONDO:0000001 Orphanet:466768 Orphanet:377788 disease +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 MONDO:0015776 Orphanet:468717 Orphanet:177 rhizomelic chondrodysplasia punctata +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0000001 Orphanet:466794 Orphanet:377788 disease +MONDO:0014746 SLC39A8-CDG MONDO:0000001 Orphanet:468699 Orphanet:377788 disease +MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:0000001 Orphanet:488197 Orphanet:377788 disease +MONDO:0014760 TFRC-related combined immunodeficiency MONDO:0000001 Orphanet:476113 Orphanet:377788 disease +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0000001 Orphanet:464282 Orphanet:377788 disease +MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0000001 Orphanet:466784 Orphanet:377788 disease +MONDO:0014776 spinocerebellar ataxia type 42 MONDO:0000001 Orphanet:458803 Orphanet:377788 disease +MONDO:0014778 Lamb-Shaffer syndrome MONDO:0000001 Orphanet:530983 Orphanet:377788 disease +MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0000001 Orphanet:478029 Orphanet:377788 disease +MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0000001 Orphanet:476084 Orphanet:377788 disease +MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0000001 Orphanet:467176 Orphanet:377788 disease +MONDO:0014789 CCDC115-CDG MONDO:0000001 Orphanet:468684 Orphanet:377788 disease +MONDO:0014790 TMEM199-CDG MONDO:0000001 Orphanet:466703 Orphanet:377788 disease +MONDO:0014800 progressive scapulohumeroperoneal distal myopathy MONDO:0000001 Orphanet:447977 Orphanet:377788 disease +MONDO:0014803 spasticity-ataxia-gait anomalies syndrome MONDO:0000001 Orphanet:401866 Orphanet:377788 disease +MONDO:0014804 sideroblastic anemia 3 MONDO:0000001 Orphanet:255132 Orphanet:377788 disease +MONDO:0014804 sideroblastic anemia 3 MONDO:0020099 Orphanet:255132 Orphanet:98362 inherited sideroblastic anemia +MONDO:0014805 Hao-Fountain syndrome MONDO:0000001 Orphanet:643549 Orphanet:377788 disease +MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome MONDO:0000001 Orphanet:488647 Orphanet:377788 disease +MONDO:0014810 pancytopenia due to IKZF1 mutations MONDO:0000001 Orphanet:317473 Orphanet:377788 disease +MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:0015159 Orphanet:488632 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014827 autosomal recessive spastic paraplegia type 76 MONDO:0000001 Orphanet:488594 Orphanet:377788 disease +MONDO:0014830 platelet-type bleeding disorder 20 MONDO:0000001 Orphanet:466806 Orphanet:377788 disease +MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome MONDO:0000001 Orphanet:300382 Orphanet:377788 disease +MONDO:0014832 intellectual disability, autosomal recessive 53 MONDO:0000001 Orphanet:488635 Orphanet:377788 disease +MONDO:0014837 thrombocytopenia 6 MONDO:0000001 Orphanet:480851 Orphanet:377788 disease +MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0000001 Orphanet:404493 Orphanet:377788 disease +MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0000001 Orphanet:478042 Orphanet:377788 disease +MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0000001 Orphanet:521406 Orphanet:377788 disease +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0000001 Orphanet:420702 Orphanet:377788 disease +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0000001 Orphanet:443950 Orphanet:377788 disease +MONDO:0014867 spinocerebellar ataxia 43 MONDO:0000001 Orphanet:497764 Orphanet:377788 disease +MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome MONDO:0000001 Orphanet:528091 Orphanet:377788 disease +MONDO:0014873 nevus comedonicus syndrome MONDO:0000001 Orphanet:64754 Orphanet:377788 disease +MONDO:0014875 hyperaldosteronism, familial, type IV MONDO:0000001 Orphanet:642671 Orphanet:377788 disease +MONDO:0014877 myopathy, distal, 5 MONDO:0000001 Orphanet:482601 Orphanet:377788 disease +MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0000001 Orphanet:466722 Orphanet:377788 disease +MONDO:0014888 MIRAGE syndrome MONDO:0000001 Orphanet:494433 Orphanet:377788 disease +MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0000001 Orphanet:497906 Orphanet:377788 disease +MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0024237 Orphanet:497906 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0014890 PERCHING syndrome MONDO:0018431 Orphanet:603684 Orphanet:401993 cold-induced sweating syndrome - hyperthermia spectrum +MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome MONDO:0000001 Orphanet:486815 Orphanet:377788 disease +MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0000001 Orphanet:329314 Orphanet:377788 disease +MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0009637 Orphanet:329314 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0000001 Orphanet:424261 Orphanet:377788 disease +MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0000001 Orphanet:541423 Orphanet:377788 disease +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome MONDO:0000001 Orphanet:500062 Orphanet:377788 disease +MONDO:0014920 patterned macular dystrophy 3 MONDO:0000001 Orphanet:466718 Orphanet:377788 disease +MONDO:0014946 Sifrim-Hitz-Weiss syndrome MONDO:0000001 Orphanet:653712 Orphanet:377788 disease +MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome MONDO:0000001 Orphanet:468620 Orphanet:377788 disease +MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0000001 Orphanet:542306 Orphanet:377788 disease +MONDO:0014958 Harel-Yoon syndrome MONDO:0000001 Orphanet:496790 Orphanet:377788 disease +MONDO:0014969 isolated sedoheptulokinase deficiency MONDO:0000001 Orphanet:440713 Orphanet:377788 disease +MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0000001 Orphanet:513436 Orphanet:377788 disease +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0000001 Orphanet:478049 Orphanet:377788 disease +MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0000001 Orphanet:480682 Orphanet:377788 disease +MONDO:0015004 dystonia 28, childhood-onset MONDO:0000001 Orphanet:589618 Orphanet:377788 disease +MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0000001 Orphanet:508529 Orphanet:377788 disease +MONDO:0015021 hypotonia, ataxia, and delayed development syndrome MONDO:0000001 Orphanet:658843 Orphanet:377788 disease +MONDO:0015027 familial isolated hyperparathyroidism MONDO:0000001 Orphanet:99879 Orphanet:377788 disease +MONDO:0015031 extraneural perineurioma MONDO:0000001 Orphanet:100002 Orphanet:377788 disease +MONDO:0015032 intraneural perineurioma MONDO:0000001 Orphanet:100003 Orphanet:377788 disease +MONDO:0015033 ABeta amyloidosis, dutch type MONDO:0005620 Orphanet:100006 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0015049 solitary necrotic nodule of the liver MONDO:0000001 Orphanet:100035 Orphanet:377788 disease +MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema MONDO:0000001 Orphanet:100057 Orphanet:377788 disease +MONDO:0015059 progressive non-fluent aphasia MONDO:0000001 Orphanet:100070 Orphanet:377788 disease +MONDO:0015059 progressive non-fluent aphasia MONDO:0017276 Orphanet:100070 Orphanet:282 frontotemporal dementia +MONDO:0015059 progressive non-fluent aphasia MONDO:0019806 Orphanet:100070 Orphanet:95432 primary progressive aphasia +MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0018510 Orphanet:100076 Orphanet:423975 small intestine neuroendocrine neoplasm +MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0018510 Orphanet:100077 Orphanet:423975 small intestine neuroendocrine neoplasm +MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0000001 Orphanet:100078 Orphanet:377788 disease +MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0018510 Orphanet:100078 Orphanet:423975 small intestine neuroendocrine neoplasm +MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0000001 Orphanet:100079 Orphanet:377788 disease +MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0000001 Orphanet:100082 Orphanet:377788 disease +MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0018516 Orphanet:100082 Orphanet:424010 epithelial tumor of anal canal +MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0000001 Orphanet:100083 Orphanet:377788 disease +MONDO:0015071 middle ear neuroendocrine tumor MONDO:0000001 Orphanet:100084 Orphanet:377788 disease +MONDO:0015072 liver neuroendocrine carcinoma MONDO:0000001 Orphanet:100085 Orphanet:377788 disease +MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0000001 Orphanet:100086 Orphanet:377788 disease +MONDO:0015075 thyroid gland carcinoma MONDO:0015074 Orphanet:100088 Orphanet:100087 thyroid tumor +MONDO:0015082 alopecia antibody deficiency MONDO:0000001 Orphanet:1006 Orphanet:377788 disease +MONDO:0015084 FRAXF syndrome MONDO:0000001 Orphanet:100974 Orphanet:377788 disease +MONDO:0015085 bathing suit ichthyosis MONDO:0000001 Orphanet:100976 Orphanet:377788 disease +MONDO:0015096 familial hypofibrinogenemia MONDO:0018060 Orphanet:101041 Orphanet:335 congenital fibrinogen deficiency +MONDO:0015104 porphyria cutanea tarda MONDO:0000001 Orphanet:101330 Orphanet:377788 disease +MONDO:0015140 early-onset autosomal dominant Alzheimer disease MONDO:0000001 Orphanet:1020 Orphanet:377788 disease +MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent MONDO:0000001 Orphanet:102379 Orphanet:377788 disease +MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor MONDO:0000001 Orphanet:102381 Orphanet:377788 disease +MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation MONDO:0000001 Orphanet:102724 Orphanet:377788 disease +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:0000001 Orphanet:103907 Orphanet:377788 disease +MONDO:0015170 congenital sodium diarrhea MONDO:0000001 Orphanet:103908 Orphanet:377788 disease +MONDO:0015171 congenital enterocyte heparan sulfate deficiency MONDO:0000001 Orphanet:103910 Orphanet:377788 disease +MONDO:0015176 undetermined colitis MONDO:0000001 Orphanet:103920 Orphanet:377788 disease +MONDO:0015177 metaphyseal anadysplasia MONDO:0000001 Orphanet:1040 Orphanet:377788 disease +MONDO:0015200 anisakiasis MONDO:0000001 Orphanet:1070 Orphanet:377788 disease +MONDO:0015205 isolated lissencephaly type 1 without known genetic defects MONDO:0000001 Orphanet:1084 Orphanet:377788 disease +MONDO:0015229 Bardet-Biedl syndrome MONDO:0000001 Orphanet:110 Orphanet:377788 disease +MONDO:0015231 Bartter syndrome MONDO:0000001 Orphanet:112 Orphanet:377788 disease +MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0000001 Orphanet:1164 Orphanet:377788 disease +MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0100309 Orphanet:1172 Orphanet:183518 hereditary ataxia +MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0000001 Orphanet:1183 Orphanet:377788 disease +MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome MONDO:0000001 Orphanet:1217 Orphanet:377788 disease +MONDO:0015253 Diamond-Blackfan anemia MONDO:0000001 Orphanet:124 Orphanet:377788 disease +MONDO:0015254 schistosomiasis MONDO:0000001 Orphanet:1247 Orphanet:377788 disease +MONDO:0015260 diphyllobothriasis MONDO:0000001 Orphanet:128 Orphanet:377788 disease +MONDO:0015261 pseudopelade of Brocq MONDO:0000001 Orphanet:129 Orphanet:377788 disease +MONDO:0015263 Brugada syndrome MONDO:0000001 Orphanet:130 Orphanet:377788 disease +MONDO:0015264 cryptogenic organizing pneumonia MONDO:0000001 Orphanet:1302 Orphanet:377788 disease +MONDO:0015269 symmetrical thalamic calcifications MONDO:0000001 Orphanet:1314 Orphanet:377788 disease +MONDO:0015270 butyrylcholinesterase deficiency MONDO:0000001 Orphanet:132 Orphanet:377788 disease +MONDO:0015274 chronic beryllium disease MONDO:0000001 Orphanet:133 Orphanet:377788 disease +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0000001 Orphanet:1332 Orphanet:377788 disease +MONDO:0015277 medullary thyroid gland carcinoma MONDO:0015075 Orphanet:1332 Orphanet:100088 thyroid gland carcinoma +MONDO:0015278 familial pancreatic carcinoma MONDO:0000001 Orphanet:1333 Orphanet:377788 disease +MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0000001 Orphanet:1334 Orphanet:377788 disease +MONDO:0015281 atrial standstill MONDO:0000001 Orphanet:1344 Orphanet:377788 disease +MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome MONDO:0000001 Orphanet:1345 Orphanet:377788 disease +MONDO:0015285 Carney complex MONDO:0000001 Orphanet:1359 Orphanet:377788 disease +MONDO:0015289 infectious epithelial keratitis MONDO:0000001 Orphanet:137593 Orphanet:377788 disease +MONDO:0015290 neurotrophic keratopathy MONDO:0000001 Orphanet:137596 Orphanet:377788 disease +MONDO:0015291 stromal keratitis MONDO:0000001 Orphanet:137599 Orphanet:377788 disease +MONDO:0015291 stromal keratitis MONDO:0023865 Orphanet:137599 Orphanet:519278 corneal infection +MONDO:0015292 endotheliitis MONDO:0000001 Orphanet:137602 Orphanet:377788 disease +MONDO:0015292 endotheliitis MONDO:0023865 Orphanet:137602 Orphanet:519278 corneal infection +MONDO:0015294 nephrogenic systemic fibrosis MONDO:0000001 Orphanet:137617 Orphanet:377788 disease +MONDO:0015298 pellucid marginal degeneration MONDO:0000001 Orphanet:137672 Orphanet:377788 disease +MONDO:0015299 Asherman syndrome MONDO:0000001 Orphanet:137686 Orphanet:377788 disease +MONDO:0015302 nodular cutaneous amyloidosis MONDO:0000001 Orphanet:137810 Orphanet:377788 disease +MONDO:0015303 macular amyloidosis MONDO:0000001 Orphanet:137814 Orphanet:377788 disease +MONDO:0015304 arachnoiditis MONDO:0000001 Orphanet:137817 Orphanet:377788 disease +MONDO:0015306 Lemierre syndrome MONDO:0000001 Orphanet:137839 Orphanet:377788 disease +MONDO:0015307 Madras motor neuron disease MONDO:0000001 Orphanet:137867 Orphanet:377788 disease +MONDO:0015315 neonatal brainstem dysfunction MONDO:0000001 Orphanet:137929 Orphanet:377788 disease +MONDO:0015317 laryngotracheal angioma MONDO:0000001 Orphanet:137935 Orphanet:377788 disease +MONDO:0015340 drug rash with eosinophilia and systemic symptoms MONDO:0000001 Orphanet:139402 Orphanet:377788 disease +MONDO:0015341 congenital panfollicular nevus MONDO:0000001 Orphanet:139414 Orphanet:377788 disease +MONDO:0015342 acute transverse myelitis MONDO:0000001 Orphanet:139417 Orphanet:377788 disease +MONDO:0015345 perioral myoclonia with absences MONDO:0000001 Orphanet:139426 Orphanet:377788 disease +MONDO:0015346 epilepsy with eyelid myoclonia MONDO:0000001 Orphanet:139431 Orphanet:377788 disease +MONDO:0015347 multicentric reticulohistiocytosis MONDO:0000001 Orphanet:139436 Orphanet:377788 disease +MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO:0000001 Orphanet:139444 Orphanet:377788 disease +MONDO:0015349 progressive cavitating leukoencephalopathy MONDO:0000001 Orphanet:139447 Orphanet:377788 disease +MONDO:0015351 neuropathy with hearing impairment MONDO:0000001 Orphanet:139512 Orphanet:377788 disease +MONDO:0015352 distal hereditary motor neuropathy type 2 MONDO:0000001 Orphanet:139525 Orphanet:377788 disease +MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay MONDO:0000001 Orphanet:139573 Orphanet:377788 disease +MONDO:0015355 distal hereditary motor neuropathy type 7 MONDO:0000001 Orphanet:139589 Orphanet:377788 disease +MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion MONDO:0000001 Orphanet:140286 Orphanet:377788 disease +MONDO:0015371 linear atrophoderma of Moulin MONDO:0000001 Orphanet:140933 Orphanet:377788 disease +MONDO:0015372 autosomal dominant macrothrombocytopenia MONDO:0000001 Orphanet:140957 Orphanet:377788 disease +MONDO:0015374 primary central nervous system vasculitis MONDO:0000001 Orphanet:140989 Orphanet:377788 disease +MONDO:0015392 nasal glial heterotopia MONDO:0000001 Orphanet:141112 Orphanet:377788 disease +MONDO:0015397 craniofacial microsomia MONDO:0015161 Orphanet:141132 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0015403 non-involuting congenital hemangioma MONDO:0000001 Orphanet:141179 Orphanet:377788 disease +MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0000001 Orphanet:141184 Orphanet:377788 disease +MONDO:0015447 differentiated thyroid carcinoma MONDO:0000001 Orphanet:146 Orphanet:377788 disease +MONDO:0015448 mitochondrial complex III deficiency MONDO:0000001 Orphanet:1460 Orphanet:377788 disease +MONDO:0015453 Cogan syndrome MONDO:0000001 Orphanet:1467 Orphanet:377788 disease +MONDO:0015455 gonococcal conjunctivitis MONDO:0000001 Orphanet:1482 Orphanet:377788 disease +MONDO:0015459 nasopharyngeal carcinoma MONDO:0000001 Orphanet:150 Orphanet:377788 disease +MONDO:0015469 craniosynostosis MONDO:0018234 Orphanet:1531 Orphanet:364559 dysostosis +MONDO:0015471 benign focal seizures of adolescence MONDO:0000001 Orphanet:1544 Orphanet:377788 disease +MONDO:0015484 cysticercosis MONDO:0000001 Orphanet:1560 Orphanet:377788 disease +MONDO:0015487 fatal infantile encephalocardiomyopathy MONDO:0000001 Orphanet:1561 Orphanet:377788 disease +MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0000001 Orphanet:157 Orphanet:377788 disease +MONDO:0015517 common variable immunodeficiency MONDO:0000001 Orphanet:1572 Orphanet:377788 disease +MONDO:0015523 epithelioid hemangioendothelioma MONDO:0000001 Orphanet:157791 Orphanet:377788 disease +MONDO:0015524 hyperplastic polyposis syndrome MONDO:0000001 Orphanet:157798 Orphanet:377788 disease +MONDO:0015526 cold-induced sweating syndrome MONDO:0000001 Orphanet:157820 Orphanet:377788 disease +MONDO:0015528 congenital epulis MONDO:0000001 Orphanet:157826 Orphanet:377788 disease +MONDO:0015529 paroxysmal Hemicrania MONDO:0000001 Orphanet:157835 Orphanet:377788 disease +MONDO:0015532 generalized eruptive histiocytosis MONDO:0000001 Orphanet:157991 Orphanet:377788 disease +MONDO:0015533 benign cephalic histiocytosis MONDO:0000001 Orphanet:157997 Orphanet:377788 disease +MONDO:0015534 juvenile xanthogranuloma MONDO:0000001 Orphanet:158000 Orphanet:377788 disease +MONDO:0015535 xanthoma disseminatum MONDO:0000001 Orphanet:158003 Orphanet:377788 disease +MONDO:0015536 papular xanthoma MONDO:0000001 Orphanet:158008 Orphanet:377788 disease +MONDO:0015537 necrobiotic xanthogranuloma MONDO:0000001 Orphanet:158011 Orphanet:377788 disease +MONDO:0015538 indeterminate dendritic cell tumor MONDO:0000001 Orphanet:158019 Orphanet:377788 disease +MONDO:0015539 progressive nodular histiocytosis MONDO:0000001 Orphanet:158022 Orphanet:377788 disease +MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis MONDO:0000001 Orphanet:540 Orphanet:377788 disease +MONDO:0015548 Huntington disease-like syndrome MONDO:0024237 Orphanet:158266 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0015557 Smouldering systemic mastocytosis MONDO:0000001 Orphanet:158775 Orphanet:377788 disease +MONDO:0015557 Smouldering systemic mastocytosis MONDO:0016586 Orphanet:158775 Orphanet:2467 systemic mastocytosis +MONDO:0015558 isolated bone marrow mastocytosis MONDO:0000001 Orphanet:158778 Orphanet:377788 disease +MONDO:0015558 isolated bone marrow mastocytosis MONDO:0016586 Orphanet:158778 Orphanet:2467 systemic mastocytosis +MONDO:0015564 Castleman disease MONDO:0000001 Orphanet:160 Orphanet:377788 disease +MONDO:0015565 cap polyposis MONDO:0000001 Orphanet:160148 Orphanet:377788 disease +MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0000001 Orphanet:163525 Orphanet:377788 disease +MONDO:0015579 Hb Bart's hydrops fetalis MONDO:0011399 Orphanet:163596 Orphanet:846 alpha thalassemia spectrum +MONDO:0015583 2p21 microdeletion syndrome MONDO:0000001 Orphanet:163693 Orphanet:377788 disease +MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:0000001 Orphanet:163703 Orphanet:377788 disease +MONDO:0015585 cryptogenic late-onset epileptic spasms MONDO:0000001 Orphanet:163708 Orphanet:377788 disease +MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome MONDO:0000001 Orphanet:163721 Orphanet:377788 disease +MONDO:0015595 posttransplant acute limbic encephalitis MONDO:0019956 Orphanet:163921 Orphanet:97275 encephalitis +MONDO:0015597 pustulosis palmaris et plantaris MONDO:0000001 Orphanet:163927 Orphanet:377788 disease +MONDO:0015599 atopic keratoconjunctivitis MONDO:0000001 Orphanet:163934 Orphanet:377788 disease +MONDO:0015600 X-linked intellectual disability, Cilliers type MONDO:0000001 Orphanet:163971 Orphanet:377788 disease +MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0000001 Orphanet:164726 Orphanet:377788 disease +MONDO:0015609 advanced sleep phase syndrome MONDO:0000001 Orphanet:164736 Orphanet:377788 disease +MONDO:0015612 Dent disease MONDO:0000001 Orphanet:1652 Orphanet:377788 disease +MONDO:0015613 dentin dysplasia MONDO:0000001 Orphanet:1653 Orphanet:377788 disease +MONDO:0015614 dermatitis herpetiformis MONDO:0000001 Orphanet:1656 Orphanet:377788 disease +MONDO:0015622 wound myiasis MONDO:0000001 Orphanet:165955 Orphanet:377788 disease +MONDO:0015623 cavitary myiasis MONDO:0000001 Orphanet:165958 Orphanet:377788 disease +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0000001 Orphanet:166002 Orphanet:377788 disease +MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0000001 Orphanet:166105 Orphanet:377788 disease +MONDO:0015634 isolated osteopoikilosis MONDO:0000001 Orphanet:166119 Orphanet:377788 disease +MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0000001 Orphanet:166286 Orphanet:377788 disease +MONDO:0015636 dirofilariasis MONDO:0000001 Orphanet:166291 Orphanet:377788 disease +MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures MONDO:0000001 Orphanet:166299 Orphanet:377788 disease +MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy MONDO:0000001 Orphanet:166302 Orphanet:377788 disease +MONDO:0015640 benign infantile seizures associated with mild gastroenteritis MONDO:0000001 Orphanet:166305 Orphanet:377788 disease +MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0000001 Orphanet:166308 Orphanet:377788 disease +MONDO:0015643 photosensitive epilepsy MONDO:0000001 Orphanet:166409 Orphanet:377788 disease +MONDO:0015643 photosensitive epilepsy MONDO:0017768 Orphanet:166409 Orphanet:310 reflex epilepsy +MONDO:0015644 audiogenic seizures MONDO:0000001 Orphanet:166415 Orphanet:377788 disease +MONDO:0015645 eating seizures MONDO:0000001 Orphanet:166418 Orphanet:377788 disease +MONDO:0015646 orgasm-induced seizures MONDO:0000001 Orphanet:166421 Orphanet:377788 disease +MONDO:0015647 thinking seizures MONDO:0000001 Orphanet:166424 Orphanet:377788 disease +MONDO:0015648 startle epilepsy MONDO:0000001 Orphanet:166427 Orphanet:377788 disease +MONDO:0015649 micturation-induced seizures MONDO:0000001 Orphanet:166430 Orphanet:377788 disease +MONDO:0015663 diencephalic syndrome MONDO:0000001 Orphanet:1672 Orphanet:377788 disease +MONDO:0015664 idiopathic pulmonary artery dilatation MONDO:0000001 Orphanet:1676 Orphanet:377788 disease +MONDO:0015665 scleromyxedema MONDO:0000001 Orphanet:167635 Orphanet:377788 disease +MONDO:0015678 dysplasia of head of femur, Meyer type MONDO:0000001 Orphanet:168621 Orphanet:377788 disease +MONDO:0015681 childhood disintegrative disorder MONDO:0000001 Orphanet:168782 Orphanet:377788 disease +MONDO:0015686 primary peritoneal carcinoma MONDO:0000001 Orphanet:168829 Orphanet:377788 disease +MONDO:0015687 chronic eosinophilic leukemia MONDO:0000001 Orphanet:168940 Orphanet:377788 disease +MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement MONDO:0000001 Orphanet:168947 Orphanet:377788 disease +MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement MONDO:0000001 Orphanet:168950 Orphanet:377788 disease +MONDO:0015692 refractory anemia with excess blasts in transformation MONDO:0000001 Orphanet:168960 Orphanet:377788 disease +MONDO:0015694 malignant melanoma of the mucosa MONDO:0000001 Orphanet:168999 Orphanet:377788 disease +MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction MONDO:0000001 Orphanet:169090 Orphanet:377788 disease +MONDO:0015696 Good syndrome MONDO:0000001 Orphanet:169105 Orphanet:377788 disease +MONDO:0015697 immunoglobulin heavy chain deficiency MONDO:0000001 Orphanet:169110 Orphanet:377788 disease +MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:0000001 Orphanet:169139 Orphanet:377788 disease +MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency MONDO:0000001 Orphanet:169147 Orphanet:377788 disease +MONDO:0015700 immunodeficiency due to a late component of complement deficiency MONDO:0000001 Orphanet:169150 Orphanet:377788 disease +MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency MONDO:0000001 Orphanet:169154 Orphanet:377788 disease +MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency MONDO:0000001 Orphanet:169157 Orphanet:377788 disease +MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta MONDO:0000001 Orphanet:169160 Orphanet:377788 disease +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0000001 Orphanet:169186 Orphanet:377788 disease +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0016191 Orphanet:169186 Orphanet:209053 qualitative or quantitative defects of titin +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency MONDO:0000001 Orphanet:98434 Orphanet:377788 disease +MONDO:0015735 severe congenital nemaline myopathy MONDO:0000001 Orphanet:171430 Orphanet:377788 disease +MONDO:0015736 intermediate nemaline myopathy MONDO:0000001 Orphanet:171433 Orphanet:377788 disease +MONDO:0015737 typical nemaline myopathy MONDO:0000001 Orphanet:171436 Orphanet:377788 disease +MONDO:0015738 childhood-onset nemaline myopathy MONDO:0000001 Orphanet:171439 Orphanet:377788 disease +MONDO:0015739 adult-onset nemaline myopathy MONDO:0000001 Orphanet:171442 Orphanet:377788 disease +MONDO:0015743 idiopathic bilateral vestibulopathy MONDO:0000001 Orphanet:171684 Orphanet:377788 disease +MONDO:0015748 hereditary mucosal leukokeratosis MONDO:0000001 Orphanet:171723 Orphanet:377788 disease +MONDO:0015749 6q16 deletion syndrome MONDO:0000001 Orphanet:171829 Orphanet:377788 disease +MONDO:0015753 cap myopathy MONDO:0000001 Orphanet:171881 Orphanet:377788 disease +MONDO:0015753 cap myopathy MONDO:0017303 Orphanet:171881 Orphanet:284790 qualitative or quantitative defects of tropomyosin +MONDO:0015753 cap myopathy MONDO:0019952 Orphanet:171881 Orphanet:97245 congenital myopathy +MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays MONDO:0000001 Orphanet:171889 Orphanet:377788 disease +MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0000001 Orphanet:172 Orphanet:377788 disease +MONDO:0015766 cholera MONDO:0000001 Orphanet:173 Orphanet:377788 disease +MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0000001 Orphanet:177 Orphanet:377788 disease +MONDO:0015780 dyskeratosis congenita MONDO:0000001 Orphanet:1775 Orphanet:377788 disease +MONDO:0015790 central diabetes insipidus MONDO:0000001 Orphanet:178029 Orphanet:377788 disease +MONDO:0015795 undifferentiated embryonal sarcoma of the liver MONDO:0000001 Orphanet:178315 Orphanet:377788 disease +MONDO:0015797 UV-sensitive syndrome MONDO:0000001 Orphanet:178338 Orphanet:377788 disease +MONDO:0015798 inflammatory myofibroblastic tumor MONDO:0000001 Orphanet:178342 Orphanet:377788 disease +MONDO:0015799 Smith-McCort dysplasia MONDO:0000001 Orphanet:178355 Orphanet:377788 disease +MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0000001 Orphanet:178396 Orphanet:377788 disease +MONDO:0015808 folliculotropic mycosis fungoides MONDO:0000001 Orphanet:178512 Orphanet:377788 disease +MONDO:0015808 folliculotropic mycosis fungoides MONDO:0015821 Orphanet:178512 Orphanet:178566 mycosis fungoides and variants +MONDO:0015809 localized pagetoid reticulosis MONDO:0000001 Orphanet:178517 Orphanet:377788 disease +MONDO:0015809 localized pagetoid reticulosis MONDO:0015821 Orphanet:178517 Orphanet:178566 mycosis fungoides and variants +MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma MONDO:0000001 Orphanet:178522 Orphanet:377788 disease +MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma MONDO:0000001 Orphanet:178528 Orphanet:377788 disease +MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma MONDO:0000001 Orphanet:178533 Orphanet:377788 disease +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma MONDO:0000001 Orphanet:178536 Orphanet:377788 disease +MONDO:0015814 primary cutaneous follicle center lymphoma MONDO:0000001 Orphanet:178540 Orphanet:377788 disease +MONDO:0015827 distal renal tubular acidosis MONDO:0000001 Orphanet:18 Orphanet:377788 disease +MONDO:0015863 polyembryoma MONDO:0000001 Orphanet:180229 Orphanet:377788 disease +MONDO:0015863 polyembryoma MONDO:0020539 Orphanet:180229 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0015864 mixed germ cell tumor MONDO:0000001 Orphanet:180234 Orphanet:377788 disease +MONDO:0015867 vaginal carcinoma MONDO:0000001 Orphanet:180247 Orphanet:377788 disease +MONDO:0015871 benign breast phyllodes tumor MONDO:0000001 Orphanet:180261 Orphanet:377788 disease +MONDO:0015873 Paget disease of the nipple MONDO:0000001 Orphanet:180275 Orphanet:377788 disease +MONDO:0015908 chromomycosis MONDO:0000001 Orphanet:182 Orphanet:377788 disease +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0000001 Orphanet:182050 Orphanet:377788 disease +MONDO:0015935 extragonadal germinoma MONDO:0000001 Orphanet:182127 Orphanet:377788 disease +MONDO:0015935 extragonadal germinoma MONDO:0018201 Orphanet:182127 Orphanet:363579 extragonadal germ cell tumor +MONDO:0015942 frontometaphyseal dysplasia MONDO:0000001 Orphanet:1826 Orphanet:377788 disease +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0000001 Orphanet:183 Orphanet:377788 disease +MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:0015492 Orphanet:183 Orphanet:156152 anti-neutrophil cytoplasmic antibody-associated vasculitis +MONDO:0015987 scimitar syndrome MONDO:0020295 Orphanet:185 Orphanet:98729 congenital pulmonary veins anomaly +MONDO:0015993 cone-rod dystrophy MONDO:0000001 Orphanet:1872 Orphanet:377788 disease +MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0000001 Orphanet:1884 Orphanet:377788 disease +MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016390 Orphanet:189466 Orphanet:2238 familial hypoparathyroidism +MONDO:0016003 ehrlichiosis MONDO:0000001 Orphanet:1902 Orphanet:377788 disease +MONDO:0016003 ehrlichiosis MONDO:0006956 Orphanet:1902 Orphanet:102021 Rickettsiosis +MONDO:0016006 Cockayne syndrome MONDO:0000001 Orphanet:191 Orphanet:377788 disease +MONDO:0016006 Cockayne syndrome MONDO:0019303 Orphanet:191 Orphanet:79389 premature aging syndrome +MONDO:0016019 Rasmussen subacute encephalitis MONDO:0000001 Orphanet:1929 Orphanet:377788 disease +MONDO:0016025 myoclonic-astatic epilepsy MONDO:0000001 Orphanet:1942 Orphanet:377788 disease +MONDO:0016026 infant epilepsy with migrant focal crisis MONDO:0000001 Orphanet:1943 Orphanet:377788 disease +MONDO:0016027 benign neonatal seizures MONDO:0000001 Orphanet:1949 Orphanet:377788 disease +MONDO:0016029 esthesioneuroblastoma MONDO:0000001 Orphanet:1957 Orphanet:377788 disease +MONDO:0016030 Evans syndrome MONDO:0000001 Orphanet:1959 Orphanet:377788 disease +MONDO:0016038 calcified aponeurotic fibroma MONDO:0000001 Orphanet:199260 Orphanet:377788 disease +MONDO:0016039 infantile digital fibromatosis MONDO:0000001 Orphanet:199267 Orphanet:377788 disease +MONDO:0016040 harlequin syndrome MONDO:0000001 Orphanet:199282 Orphanet:377788 disease +MONDO:0016042 late-onset isolated ACTH deficiency MONDO:0000001 Orphanet:199299 Orphanet:377788 disease +MONDO:0016047 endophthalmitis MONDO:0000001 Orphanet:199323 Orphanet:377788 disease +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0000001 Orphanet:199326 Orphanet:377788 disease +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0015962 Orphanet:199326 Orphanet:183592 inherited renal tubular disease +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0017765 Orphanet:199326 Orphanet:309848 disorder of magnesium transport +MONDO:0016049 congenital myopathy, Paradas type MONDO:0000001 Orphanet:199329 Orphanet:377788 disease +MONDO:0016052 atypical autism MONDO:0000001 Orphanet:199627 Orphanet:377788 disease +MONDO:0016061 immunodeficiency with factor H anomaly MONDO:0000001 Orphanet:200421 Orphanet:377788 disease +MONDO:0016063 Cowden disease MONDO:0000001 Orphanet:201 Orphanet:377788 disease +MONDO:0016067 Crandall syndrome MONDO:0000001 Orphanet:202 Orphanet:377788 disease +MONDO:0016068 fibrochondrogenesis MONDO:0000001 Orphanet:2021 Orphanet:377788 disease +MONDO:0016071 juvenile hyaline fibromatosis MONDO:0021154 Orphanet:2028 Orphanet:79381 dermis disorder +MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:204 Orphanet:377788 disease +MONDO:0016083 FLOTCH syndrome MONDO:0000001 Orphanet:2045 Orphanet:377788 disease +MONDO:0016086 osteochondritis of tarsal/metatarsal bone MONDO:0000001 Orphanet:563991 Orphanet:377788 disease +MONDO:0016092 serous or mucinous cystadenoma of childhood MONDO:0000001 Orphanet:206470 Orphanet:377788 disease +MONDO:0016094 vaginal germ cell malignant tumor MONDO:0000001 Orphanet:206489 Orphanet:377788 disease +MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0000001 Orphanet:206492 Orphanet:377788 disease +MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0000001 Orphanet:206538 Orphanet:377788 disease +MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0018171 Orphanet:206538 Orphanet:35807 malignant germ cell tumor of ovary +MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0000001 Orphanet:206546 Orphanet:377788 disease +MONDO:0016098 immune-mediated necrotizing myopathy MONDO:0000001 Orphanet:206569 Orphanet:377788 disease +MONDO:0016099 overlap myositis MONDO:0000001 Orphanet:206572 Orphanet:377788 disease +MONDO:0016100 rippling muscle disease with myasthenia gravis MONDO:0000001 Orphanet:206575 Orphanet:377788 disease +MONDO:0016101 neurolymphomatosis MONDO:0000001 Orphanet:206586 Orphanet:377788 disease +MONDO:0016102 subacute inflammatory demyelinating polyneuropathy MONDO:0000001 Orphanet:206594 Orphanet:377788 disease +MONDO:0016113 bulbospinal muscular atrophy MONDO:0024257 Orphanet:206701 Orphanet:98505 hereditary motor neuron disease +MONDO:0016126 viral myositis MONDO:0000001 Orphanet:206991 Orphanet:377788 disease +MONDO:0016127 bacterial myositis MONDO:0000001 Orphanet:206994 Orphanet:377788 disease +MONDO:0016129 eosinophilic gastroenteritis MONDO:0000001 Orphanet:2070 Orphanet:377788 disease +MONDO:0016130 fungal myositis MONDO:0000001 Orphanet:207000 Orphanet:377788 disease +MONDO:0016158 narcolepsy-cataplexy syndrome MONDO:0000001 Orphanet:2073 Orphanet:377788 disease +MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0000001 Orphanet:94147 Orphanet:377788 disease +MONDO:0016164 herpetiform pemphigus MONDO:0000001 Orphanet:208524 Orphanet:377788 disease +MONDO:0016167 optic pathway glioma MONDO:0000001 Orphanet:2086 Orphanet:377788 disease +MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy MONDO:0000001 Orphanet:209004 Orphanet:377788 disease +MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment MONDO:0000001 Orphanet:209867 Orphanet:377788 disease +MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO:0000001 Orphanet:209902 Orphanet:377788 disease +MONDO:0016204 idiopathic copper-associated cirrhosis MONDO:0000001 Orphanet:209919 Orphanet:377788 disease +MONDO:0016205 IRVAN syndrome MONDO:0000001 Orphanet:209943 Orphanet:377788 disease +MONDO:0016206 idiopathic uveal effusion syndrome MONDO:0000001 Orphanet:209956 Orphanet:377788 disease +MONDO:0016206 idiopathic uveal effusion syndrome MONDO:0017255 Orphanet:209956 Orphanet:280898 panuveitis +MONDO:0016207 phacoanaphylactic uveitis MONDO:0000001 Orphanet:209959 Orphanet:377788 disease +MONDO:0016208 solitary rectal ulcer syndrome MONDO:0000001 Orphanet:209964 Orphanet:377788 disease +MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood MONDO:0000001 Orphanet:209973 Orphanet:377788 disease +MONDO:0016211 non-papillary transitional cell carcinoma of the bladder MONDO:0000001 Orphanet:209989 Orphanet:377788 disease +MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome MONDO:0000001 Orphanet:210133 Orphanet:377788 disease +MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO:0000001 Orphanet:210136 Orphanet:377788 disease +MONDO:0016215 spastic quadriplegic cerebral palsy MONDO:0000001 Orphanet:210141 Orphanet:377788 disease +MONDO:0016216 adult hepatocellular carcinoma MONDO:0000001 Orphanet:210159 Orphanet:377788 disease +MONDO:0016220 congenital temporomandibular joint ankylosis MONDO:0000001 Orphanet:210576 Orphanet:377788 disease +MONDO:0016222 spindle cell hemangioma MONDO:0000001 Orphanet:210584 Orphanet:377788 disease +MONDO:0016236 kaposiform hemangioendothelioma MONDO:0000001 Orphanet:2122 Orphanet:377788 disease +MONDO:0016238 solitary fibrous tumor MONDO:0000001 Orphanet:2126 Orphanet:377788 disease +MONDO:0016239 cystinosis MONDO:0000001 Orphanet:213 Orphanet:377788 disease +MONDO:0016241 alternating hemiplegia of childhood MONDO:0000001 Orphanet:2131 Orphanet:377788 disease +MONDO:0016242 hemoglobin C disease MONDO:0000001 Orphanet:2132 Orphanet:377788 disease +MONDO:0016243 hemoglobin E disease MONDO:0000001 Orphanet:2133 Orphanet:377788 disease +MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0000001 Orphanet:2134 Orphanet:377788 disease +MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0001549 Orphanet:2134 Orphanet:544458 hemolytic-uremic syndrome +MONDO:0016258 uterine corpus carcinofibroma MONDO:0000001 Orphanet:213605 Orphanet:377788 disease +MONDO:0016258 uterine corpus carcinofibroma MONDO:0016255 Orphanet:213605 Orphanet:213589 uterine corpus mixed epithelial and mesenchymal neoplasm +MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0000001 Orphanet:213610 Orphanet:377788 disease +MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0016255 Orphanet:213610 Orphanet:213589 uterine corpus mixed epithelial and mesenchymal neoplasm +MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0000001 Orphanet:213615 Orphanet:377788 disease +MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0000001 Orphanet:213625 Orphanet:377788 disease +MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri MONDO:0000001 Orphanet:213630 Orphanet:377788 disease +MONDO:0016264 autoimmune hepatitis MONDO:0000001 Orphanet:2137 Orphanet:377788 disease +MONDO:0016266 squamous cell carcinoma of the corpus uteri MONDO:0000001 Orphanet:213716 Orphanet:377788 disease +MONDO:0016267 undifferentiated carcinoma of the corpus uteri MONDO:0000001 Orphanet:213721 Orphanet:377788 disease +MONDO:0016268 papillary carcinoma of the corpus uteri MONDO:0000001 Orphanet:213726 Orphanet:377788 disease +MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri MONDO:0000001 Orphanet:213731 Orphanet:377788 disease +MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri MONDO:0000001 Orphanet:213736 Orphanet:377788 disease +MONDO:0016272 transitional cell carcinoma of the corpus uteri MONDO:0000001 Orphanet:213746 Orphanet:377788 disease +MONDO:0016273 malignant germ cell tumor of corpus uteri MONDO:0000001 Orphanet:213751 Orphanet:377788 disease +MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri MONDO:0000001 Orphanet:213777 Orphanet:377788 disease +MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0000001 Orphanet:213802 Orphanet:377788 disease +MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0000001 Orphanet:213807 Orphanet:377788 disease +MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri MONDO:0000001 Orphanet:213812 Orphanet:377788 disease +MONDO:0016289 malignant germ cell tumor of cervix uteri MONDO:0000001 Orphanet:213837 Orphanet:377788 disease +MONDO:0016293 congenital stationary night blindness MONDO:0000001 Orphanet:215 Orphanet:377788 disease +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0002561 Orphanet:216 Orphanet:68366 lysosomal storage disease +MONDO:0016318 progressive multifocal leukoencephalopathy MONDO:0000001 Orphanet:217260 Orphanet:377788 disease +MONDO:0016319 congenital insensitivity to pain with hyperhidrosis MONDO:0000001 Orphanet:217399 Orphanet:377788 disease +MONDO:0016321 pulmonary interstitial glycogenosis MONDO:0000001 Orphanet:217557 Orphanet:377788 disease +MONDO:0016322 neuroendocrine cell hyperplasia of infancy MONDO:0000001 Orphanet:217560 Orphanet:377788 disease +MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency MONDO:0000001 Orphanet:217566 Orphanet:377788 disease +MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0000001 Orphanet:217656 Orphanet:377788 disease +MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome MONDO:0000001 Orphanet:2201 Orphanet:377788 disease +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0000001 Orphanet:220295 Orphanet:377788 disease +MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency MONDO:0000001 Orphanet:220448 Orphanet:377788 disease +MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0000001 Orphanet:220460 Orphanet:377788 disease +MONDO:0016362 attenuated familial adenomatous polyposis MONDO:0015185 Orphanet:220460 Orphanet:104010 intestinal polyposis syndrome +MONDO:0016366 maternal phenylketonuria MONDO:0017306 Orphanet:2209 Orphanet:284814 disorder of phenylalanine metabolism +MONDO:0016367 dermatomyositis MONDO:0000001 Orphanet:221 Orphanet:377788 disease +MONDO:0016367 dermatomyositis MONDO:0020122 Orphanet:221 Orphanet:98482 acquired idiopathic inflammatory myopathy +MONDO:0016370 Marchiafava-Bignami disease MONDO:0000001 Orphanet:221074 Orphanet:377788 disease +MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves MONDO:0000001 Orphanet:221078 Orphanet:377788 disease +MONDO:0016372 glossopharyngeal neuralgia MONDO:0000001 Orphanet:221098 Orphanet:377788 disease +MONDO:0016376 confetti-like macular atrophy MONDO:0000001 Orphanet:221142 Orphanet:377788 disease +MONDO:0016379 erosive pustular dermatosis of the scalp MONDO:0000001 Orphanet:222 Orphanet:377788 disease +MONDO:0016380 acquired hypertrichosis lanuginosa MONDO:0000001 Orphanet:2221 Orphanet:377788 disease +MONDO:0016381 hypertrichosis lanuginosa congenita MONDO:0000001 Orphanet:2222 Orphanet:377788 disease +MONDO:0016383 nephrogenic diabetes insipidus MONDO:0000001 Orphanet:223 Orphanet:377788 disease +MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome MONDO:0000001 Orphanet:2230 Orphanet:377788 disease +MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0000001 Orphanet:2233 Orphanet:377788 disease +MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:2235 Orphanet:377788 disease +MONDO:0016390 familial hypoparathyroidism MONDO:0000001 Orphanet:2238 Orphanet:377788 disease +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0000001 Orphanet:2250 Orphanet:377788 disease +MONDO:0016394 sporadic infantile bilateral striatal necrosis MONDO:0000001 Orphanet:225147 Orphanet:377788 disease +MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MONDO:0000001 Orphanet:2253 Orphanet:377788 disease +MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function MONDO:0000001 Orphanet:226307 Orphanet:377788 disease +MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs MONDO:0000001 Orphanet:226313 Orphanet:377788 disease +MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0000001 Orphanet:2266 Orphanet:377788 disease +MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome MONDO:0000001 Orphanet:2271 Orphanet:377788 disease +MONDO:0016419 hereditary breast carcinoma MONDO:0000001 Orphanet:227535 Orphanet:377788 disease +MONDO:0016421 toxic oil syndrome MONDO:0000001 Orphanet:227972 Orphanet:377788 disease +MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0000001 Orphanet:227982 Orphanet:377788 disease +MONDO:0016423 autoimmune polyendocrinopathy type 4 MONDO:0000001 Orphanet:227990 Orphanet:377788 disease +MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0000001 Orphanet:228012 Orphanet:377788 disease +MONDO:0016425 Hughes-Stovin syndrome MONDO:0000001 Orphanet:228116 Orphanet:377788 disease +MONDO:0016426 fusariosis MONDO:0000001 Orphanet:228119 Orphanet:377788 disease +MONDO:0016429 Marburg acute multiple sclerosis MONDO:0000001 Orphanet:228157 Orphanet:377788 disease +MONDO:0016430 Balo concentric sclerosis MONDO:0000001 Orphanet:228165 Orphanet:377788 disease +MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:0000001 Orphanet:228179 Orphanet:377788 disease +MONDO:0016437 late-onset focal dermal elastosis MONDO:0000001 Orphanet:228227 Orphanet:377788 disease +MONDO:0016438 linear focal dermal elastosis MONDO:0000001 Orphanet:228236 Orphanet:377788 disease +MONDO:0016439 elastoderma MONDO:0000001 Orphanet:228240 Orphanet:377788 disease +MONDO:0016440 elastofibroma dorsi MONDO:0000001 Orphanet:228243 Orphanet:377788 disease +MONDO:0016441 acquired pseudoxanthoma elasticum MONDO:0000001 Orphanet:228247 Orphanet:377788 disease +MONDO:0016442 elastoma MONDO:0000001 Orphanet:228254 Orphanet:377788 disease +MONDO:0016443 papular elastorrhexis MONDO:0000001 Orphanet:228264 Orphanet:377788 disease +MONDO:0016444 primary anetoderma MONDO:0000001 Orphanet:228272 Orphanet:377788 disease +MONDO:0016445 familial anetoderma MONDO:0000001 Orphanet:228277 Orphanet:377788 disease +MONDO:0016446 acquired cutis laxa MONDO:0000001 Orphanet:228285 Orphanet:377788 disease +MONDO:0016447 white fibrous papulosis of the neck MONDO:0000001 Orphanet:228290 Orphanet:377788 disease +MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis MONDO:0000001 Orphanet:228293 Orphanet:377788 disease +MONDO:0016449 mid-dermal elastolysis MONDO:0000001 Orphanet:228299 Orphanet:377788 disease +MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 MONDO:0000001 Orphanet:228374 Orphanet:377788 disease +MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0000001 Orphanet:228379 Orphanet:377788 disease +MONDO:0016462 isolated agammaglobulinemia MONDO:0000001 Orphanet:229717 Orphanet:377788 disease +MONDO:0016464 insulin-resistance syndrome type B MONDO:0000001 Orphanet:2298 Orphanet:377788 disease +MONDO:0016466 asbestosis MONDO:0000001 Orphanet:2302 Orphanet:377788 disease +MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0000001 Orphanet:230857 Orphanet:377788 disease +MONDO:0016471 pachyonychia congenita MONDO:0000001 Orphanet:2309 Orphanet:377788 disease +MONDO:0016472 dracunculiasis MONDO:0000001 Orphanet:231 Orphanet:377788 disease +MONDO:0016473 familial rhabdoid tumor MONDO:0000001 Orphanet:231108 Orphanet:377788 disease +MONDO:0016474 drug-induced lupus erythematosus MONDO:0000001 Orphanet:231111 Orphanet:377788 disease +MONDO:0016483 intracranial berry aneurysm MONDO:0000001 Orphanet:231160 Orphanet:377788 disease +MONDO:0016486 beta-thalassemia major MONDO:0019402 Orphanet:231214 Orphanet:848 beta thalassemia +MONDO:0016487 beta-thalassemia intermedia MONDO:0019402 Orphanet:231222 Orphanet:848 beta thalassemia +MONDO:0016489 delta-beta-thalassemia MONDO:0000001 Orphanet:231237 Orphanet:377788 disease +MONDO:0016490 hemoglobin C-beta-thalassemia syndrome MONDO:0000001 Orphanet:231242 Orphanet:377788 disease +MONDO:0016491 hemoglobin E-beta-thalassemia syndrome MONDO:0000001 Orphanet:231249 Orphanet:377788 disease +MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome MONDO:0000001 Orphanet:231426 Orphanet:377788 disease +MONDO:0016497 paraparetic variant of Guillain-Barre syndrome MONDO:0000001 Orphanet:231445 Orphanet:377788 disease +MONDO:0016498 acute pure sensory neuropathy MONDO:0000001 Orphanet:231450 Orphanet:377788 disease +MONDO:0016499 autoimmune autonomic ganglionopathy MONDO:0000001 Orphanet:231457 Orphanet:377788 disease +MONDO:0016500 acute sensory ataxic neuropathy MONDO:0000001 Orphanet:231466 Orphanet:377788 disease +MONDO:0016503 congenital erosive and vesicular dermatosis MONDO:0000001 Orphanet:231573 Orphanet:377788 disease +MONDO:0016504 primary unilateral adrenal hyperplasia MONDO:0000001 Orphanet:231580 Orphanet:377788 disease +MONDO:0016505 aldosterone-producing adrenal cortex adenoma MONDO:0000001 Orphanet:231625 Orphanet:377788 disease +MONDO:0016506 ectopic aldosterone-producing tumor MONDO:0000001 Orphanet:231632 Orphanet:377788 disease +MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome MONDO:0000001 Orphanet:2349 Orphanet:377788 disease +MONDO:0016526 trisomy 9p MONDO:0016930 Orphanet:262767 Orphanet:262643 partial trisomy/tetrasomy of chromosome 9 +MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0000001 Orphanet:2364 Orphanet:377788 disease +MONDO:0016532 Lennox-Gastaut syndrome MONDO:0000001 Orphanet:2382 Orphanet:377788 disease +MONDO:0016534 infundibulo-neurohypophysitis MONDO:0000001 Orphanet:238305 Orphanet:377788 disease +MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0000001 Orphanet:238468 Orphanet:377788 disease +MONDO:0016539 atypical hypotonia-cystinuria syndrome MONDO:0000001 Orphanet:238523 Orphanet:377788 disease +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0000001 Orphanet:238569 Orphanet:377788 disease +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0000001 Orphanet:238583 Orphanet:377788 disease +MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome MONDO:0000001 Orphanet:2386 Orphanet:377788 disease +MONDO:0016546 primary orthostatic tremor MONDO:0000001 Orphanet:238606 Orphanet:377788 disease +MONDO:0016548 megacystis-megaureter syndrome MONDO:0000001 Orphanet:238637 Orphanet:377788 disease +MONDO:0016553 isolated congenital hypogonadotropic hypogonadism MONDO:0000001 Orphanet:238666 Orphanet:377788 disease +MONDO:0016554 neonatal iodine exposure MONDO:0000001 Orphanet:238688 Orphanet:377788 disease +MONDO:0016557 leukonychia totalis MONDO:0000001 Orphanet:2387 Orphanet:377788 disease +MONDO:0016558 familial congenital mirror movements MONDO:0000001 Orphanet:238722 Orphanet:377788 disease +MONDO:0016566 loiasis MONDO:0000001 Orphanet:2404 Orphanet:377788 disease +MONDO:0016570 primary pulmonary lymphoma MONDO:0000001 Orphanet:2420 Orphanet:377788 disease +MONDO:0016573 acute fatty liver of pregnancy MONDO:0000001 Orphanet:243367 Orphanet:377788 disease +MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO:0000001 Orphanet:2435 Orphanet:377788 disease +MONDO:0016575 primary ciliary dyskinesia MONDO:0000001 Orphanet:244 Orphanet:377788 disease +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:0004994 Orphanet:247 Orphanet:167848 cardiomyopathy +MONDO:0016588 infantile mercury poisoning MONDO:0000001 Orphanet:247165 Orphanet:377788 disease +MONDO:0016591 sporadic adult-onset ataxia of unknown etiology MONDO:0000001 Orphanet:247234 Orphanet:377788 disease +MONDO:0016594 superficial siderosis MONDO:0000001 Orphanet:247245 Orphanet:377788 disease +MONDO:0016595 inhalational anthrax MONDO:0000001 Orphanet:247257 Orphanet:377788 disease +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0000001 Orphanet:247262 Orphanet:377788 disease +MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene MONDO:0000001 Orphanet:247378 Orphanet:377788 disease +MONDO:0016603 citrullinemia type II MONDO:0000001 Orphanet:247585 Orphanet:377788 disease +MONDO:0016609 inflammatory myopathy with abundant macrophages MONDO:0000001 Orphanet:247718 Orphanet:377788 disease +MONDO:0016610 idiopathic eosinophilic myositis MONDO:0000001 Orphanet:247724 Orphanet:377788 disease +MONDO:0016611 lipoblastoma MONDO:0000001 Orphanet:247762 Orphanet:377788 disease +MONDO:0016612 X-linked cerebellar ataxia MONDO:0100309 Orphanet:247765 Orphanet:183518 hereditary ataxia +MONDO:0016613 APC-related attenuated familial adenomatous polyposis MONDO:0016362 Orphanet:247806 Orphanet:220460 attenuated familial adenomatous polyposis +MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency MONDO:0000001 Orphanet:247815 Orphanet:377788 disease +MONDO:0016621 juvenile Huntington disease MONDO:0000001 Orphanet:248111 Orphanet:377788 disease +MONDO:0016630 isolated delta-storage pool disease MONDO:0000001 Orphanet:248340 Orphanet:377788 disease +MONDO:0016638 familial hypodysfibrinogenemia MONDO:0018060 Orphanet:248408 Orphanet:335 congenital fibrinogen deficiency +MONDO:0016642 meningioma MONDO:0000001 Orphanet:2495 Orphanet:377788 disease +MONDO:0016644 logopenic progressive aphasia MONDO:0000001 Orphanet:250831 Orphanet:377788 disease +MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy MONDO:0000001 Orphanet:250932 Orphanet:377788 disease +MONDO:0016649 Warburg micro syndrome MONDO:0016073 Orphanet:2510 Orphanet:202948 syndromic microphthalmia +MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0000001 Orphanet:251304 Orphanet:377788 disease +MONDO:0016662 idiopathic recurrent pericarditis MONDO:0000001 Orphanet:251307 Orphanet:377788 disease +MONDO:0016664 drug-induced vasculitis MONDO:0000001 Orphanet:251325 Orphanet:377788 disease +MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome MONDO:0000001 Orphanet:251332 Orphanet:377788 disease +MONDO:0016668 sickle cell-beta-thalassemia disease syndrome MONDO:0000001 Orphanet:251359 Orphanet:377788 disease +MONDO:0016669 sickle cell-hemoglobin c disease syndrome MONDO:0000001 Orphanet:251365 Orphanet:377788 disease +MONDO:0016670 sickle cell-hemoglobin d disease syndrome MONDO:0000001 Orphanet:251370 Orphanet:377788 disease +MONDO:0016671 sickle cell-hemoglobin E disease syndrome MONDO:0000001 Orphanet:251375 Orphanet:377788 disease +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome MONDO:0000001 Orphanet:251380 Orphanet:377788 disease +MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type MONDO:0000001 Orphanet:251393 Orphanet:377788 disease +MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type MONDO:0017612 Orphanet:251393 Orphanet:305 junctional epidermolysis bullosa +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0000001 Orphanet:251523 Orphanet:377788 disease +MONDO:0016681 gliosarcoma MONDO:0018177 Orphanet:251576 Orphanet:360 glioblastoma +MONDO:0016682 giant cell glioblastoma MONDO:0018177 Orphanet:251579 Orphanet:360 glioblastoma +MONDO:0016683 gliomatosis cerebri MONDO:0000001 Orphanet:251582 Orphanet:377788 disease +MONDO:0016684 anaplastic astrocytoma MONDO:0000001 Orphanet:251589 Orphanet:377788 disease +MONDO:0016685 low-grade astrocytoma MONDO:0021636 Orphanet:251592 Orphanet:94 astrocytic tumor +MONDO:0016686 diffuse astrocytoma MONDO:0000001 Orphanet:251595 Orphanet:377788 disease +MONDO:0016690 pleomorphic xanthoastrocytoma MONDO:0000001 Orphanet:251607 Orphanet:377788 disease +MONDO:0016691 pilocytic astrocytoma MONDO:0000001 Orphanet:251612 Orphanet:377788 disease +MONDO:0016693 subependymal giant cell astrocytoma MONDO:0000001 Orphanet:251618 Orphanet:377788 disease +MONDO:0016695 oligodendroglioma MONDO:0000001 Orphanet:251627 Orphanet:377788 disease +MONDO:0016696 anaplastic oligodendroglioma MONDO:0000001 Orphanet:251630 Orphanet:377788 disease +MONDO:0016698 ependymoma MONDO:0000001 Orphanet:251636 Orphanet:377788 disease +MONDO:0016699 myxopapillary ependymoma MONDO:0000001 Orphanet:251643 Orphanet:377788 disease +MONDO:0016700 anaplastic ependymoma MONDO:0000001 Orphanet:251646 Orphanet:377788 disease +MONDO:0016702 oligoastrocytoma MONDO:0000001 Orphanet:251656 Orphanet:377788 disease +MONDO:0016703 anaplastic oligoastrocytoma MONDO:0000001 Orphanet:251663 Orphanet:377788 disease +MONDO:0016705 angiocentric glioma MONDO:0000001 Orphanet:251671 Orphanet:377788 disease +MONDO:0016706 chordoid glioma of the third ventricle MONDO:0000001 Orphanet:251674 Orphanet:377788 disease +MONDO:0016707 astroblastoma MONDO:0000001 Orphanet:251679 Orphanet:377788 disease +MONDO:0016718 choroid plexus carcinoma MONDO:0000001 Orphanet:251899 Orphanet:377788 disease +MONDO:0016718 choroid plexus carcinoma MONDO:0016717 Orphanet:251899 Orphanet:251896 choroid plexus neoplasm +MONDO:0016722 pineoblastoma MONDO:0000001 Orphanet:251909 Orphanet:377788 disease +MONDO:0016723 pineocytoma MONDO:0000001 Orphanet:251912 Orphanet:377788 disease +MONDO:0016724 papillary tumor of the pineal region MONDO:0000001 Orphanet:251915 Orphanet:377788 disease +MONDO:0016727 extraventricular neurocytoma MONDO:0000001 Orphanet:251927 Orphanet:377788 disease +MONDO:0016730 gangliocytoma MONDO:0000001 Orphanet:251937 Orphanet:377788 disease +MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma MONDO:0000001 Orphanet:251940 Orphanet:377788 disease +MONDO:0016733 ganglioglioma MONDO:0000001 Orphanet:251949 Orphanet:377788 disease +MONDO:0016734 anaplastic ganglioglioma MONDO:0000001 Orphanet:251957 Orphanet:377788 disease +MONDO:0016734 anaplastic ganglioglioma MONDO:0016729 Orphanet:251957 Orphanet:251934 mixed neuronal-glial tumor +MONDO:0016735 papillary glioneuronal tumor MONDO:0000001 Orphanet:251962 Orphanet:377788 disease +MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule MONDO:0000001 Orphanet:251975 Orphanet:377788 disease +MONDO:0016740 choriocarcinoma of the central nervous system MONDO:0000001 Orphanet:252015 Orphanet:377788 disease +MONDO:0016742 mixed germ cell tumor of central nervous system MONDO:0015864 Orphanet:252021 Orphanet:180234 mixed germ cell tumor +MONDO:0016745 diffuse leptomeningeal melanocytosis MONDO:0000001 Orphanet:252031 Orphanet:377788 disease +MONDO:0016746 meningeal melanocytoma MONDO:0000001 Orphanet:252046 Orphanet:377788 disease +MONDO:0016747 primary melanoma of the central nervous system MONDO:0000001 Orphanet:252050 Orphanet:377788 disease +MONDO:0016748 hemangioblastoma MONDO:0000001 Orphanet:252054 Orphanet:377788 disease +MONDO:0016755 neurofibroma MONDO:0000001 Orphanet:252183 Orphanet:377788 disease +MONDO:0016769 linear lichen planus MONDO:0000001 Orphanet:254379 Orphanet:377788 disease +MONDO:0016770 actinic lichen planus MONDO:0000001 Orphanet:254395 Orphanet:377788 disease +MONDO:0016771 annular atrophic lichen planus MONDO:0000001 Orphanet:254411 Orphanet:377788 disease +MONDO:0016772 annular lichen planus MONDO:0000001 Orphanet:254424 Orphanet:377788 disease +MONDO:0016773 atrophic lichen planus MONDO:0000001 Orphanet:254449 Orphanet:377788 disease +MONDO:0016774 lichen planus pigmentosus MONDO:0000001 Orphanet:254463 Orphanet:377788 disease +MONDO:0016775 lichen planus pemphigoides MONDO:0000001 Orphanet:254478 Orphanet:377788 disease +MONDO:0016776 frontal fibrosing alopecia MONDO:0000001 Orphanet:254492 Orphanet:377788 disease +MONDO:0016787 epithelioid trophoblastic tumor MONDO:0000001 Orphanet:254698 Orphanet:377788 disease +MONDO:0016806 maternally-inherited mitochondrial dystonia MONDO:0000001 Orphanet:254851 Orphanet:377788 disease +MONDO:0016807 pure mitochondrial myopathy MONDO:0000001 Orphanet:254854 Orphanet:377788 disease +MONDO:0016809 spinocerebellar ataxia with epilepsy MONDO:0000001 Orphanet:254881 Orphanet:377788 disease +MONDO:0016809 spinocerebellar ataxia with epilepsy MONDO:0016798 Orphanet:254881 Orphanet:254818 ataxia neuropathy spectrum +MONDO:0016810 autosomal recessive progressive external ophthalmoplegia MONDO:0000001 Orphanet:254886 Orphanet:377788 disease +MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome MONDO:0000001 Orphanet:254902 Orphanet:377788 disease +MONDO:0016814 maternally-inherited Leigh syndrome MONDO:0000001 Orphanet:255210 Orphanet:377788 disease +MONDO:0016820 Moyamoya disease MONDO:0000001 Orphanet:2573 Orphanet:377788 disease +MONDO:0016823 mycetoma MONDO:0000001 Orphanet:2583 Orphanet:377788 disease +MONDO:0016824 infantile myofibromatosis MONDO:0000001 Orphanet:2591 Orphanet:377788 disease +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0000001 Orphanet:2597 Orphanet:377788 disease +MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0000001 Orphanet:26 Orphanet:377788 disease +MONDO:0016828 autosomal recessive sideroblastic anemia MONDO:0000001 Orphanet:260305 Orphanet:377788 disease +MONDO:0016829 familial visceral myopathy MONDO:0000001 Orphanet:2604 Orphanet:377788 disease +MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0000001 Orphanet:261 Orphanet:377788 disease +MONDO:0016831 linear verrucous nevus syndrome MONDO:0000001 Orphanet:2611 Orphanet:377788 disease +MONDO:0016832 distal 7q11.23 microduplication syndrome MONDO:0016958 Orphanet:261102 Orphanet:262887 partial duplication of the long arm of chromosome 7 +MONDO:0016846 distal 22q11.2 microduplication syndrome MONDO:0016972 Orphanet:261337 Orphanet:263004 partial duplication of the long arm of chromosome 22 +MONDO:0016848 juvenile temporal arteritis MONDO:0000001 Orphanet:26137 Orphanet:377788 disease +MONDO:0016979 MRCS syndrome MONDO:0000001 Orphanet:263347 Orphanet:377788 disease +MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO:0000001 Orphanet:263410 Orphanet:377788 disease +MONDO:0016982 angiosarcoma MONDO:0000001 Orphanet:263413 Orphanet:377788 disease +MONDO:0016984 nevus of Ota MONDO:0000001 Orphanet:263425 Orphanet:377788 disease +MONDO:0016985 nevus of Ito MONDO:0000001 Orphanet:263432 Orphanet:377788 disease +MONDO:0016986 congenital smooth muscle hamartoma MONDO:0000001 Orphanet:263435 Orphanet:377788 disease +MONDO:0016988 hyperinsulinism due to HNF4A deficiency MONDO:0000001 Orphanet:263455 Orphanet:377788 disease +MONDO:0016989 Fuchs heterochromic iridocyclitis MONDO:0000001 Orphanet:263479 Orphanet:377788 disease +MONDO:0016990 acquired prothrombin deficiency MONDO:0000001 Orphanet:26348 Orphanet:377788 disease +MONDO:0016991 acute necrotizing encephalopathy of childhood MONDO:0000001 Orphanet:263524 Orphanet:377788 disease +MONDO:0016995 familial multiple meningioma MONDO:0000001 Orphanet:263662 Orphanet:377788 disease +MONDO:0016996 NK-cell enteropathy MONDO:0000001 Orphanet:263665 Orphanet:377788 disease +MONDO:0017018 isolated pulmonary capillaritis MONDO:0000001 Orphanet:264691 Orphanet:377788 disease +MONDO:0017042 thanatophoric dysplasia MONDO:0000001 Orphanet:2655 Orphanet:377788 disease +MONDO:0017043 congenital mesoblastic nephroma MONDO:0000001 Orphanet:2665 Orphanet:377788 disease +MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome MONDO:0000001 Orphanet:2666 Orphanet:377788 disease +MONDO:0017048 pseudomyxoma peritonei MONDO:0000001 Orphanet:26790 Orphanet:377788 disease +MONDO:0017050 intraocular medulloepithelioma MONDO:0000001 Orphanet:268139 Orphanet:377788 disease +MONDO:0017100 neutropenia-monocytopenia-deafness syndrome MONDO:0000001 Orphanet:2690 Orphanet:377788 disease +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0015168 Orphanet:2697 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0017124 noma MONDO:0000001 Orphanet:2700 Orphanet:377788 disease +MONDO:0017137 onchocerciasis MONDO:0000001 Orphanet:2737 Orphanet:377788 disease +MONDO:0017160 behavioral variant of frontotemporal dementia MONDO:0000001 Orphanet:275864 Orphanet:377788 disease +MONDO:0017161 frontotemporal dementia with motor neuron disease MONDO:0000001 Orphanet:275872 Orphanet:377788 disease +MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization MONDO:0000001 Orphanet:275944 Orphanet:377788 disease +MONDO:0017165 bile acid CoA ligase deficiency and defective amidation MONDO:0000001 Orphanet:276066 Orphanet:377788 disease +MONDO:0017167 malignant epithelial tumor of salivary glands MONDO:0000001 Orphanet:276145 Orphanet:377788 disease +MONDO:0017168 benign epithelial tumor of salivary glands MONDO:0000001 Orphanet:276148 Orphanet:377788 disease +MONDO:0017170 idiopathic recurrent stupor MONDO:0000001 Orphanet:276174 Orphanet:377788 disease +MONDO:0017178 osteochondritis dissecans MONDO:0000001 Orphanet:2764 Orphanet:377788 disease +MONDO:0017178 osteochondritis dissecans MONDO:0005380 Orphanet:2764 Orphanet:399158 osteonecrosis +MONDO:0017181 hypnic headache MONDO:0000001 Orphanet:276429 Orphanet:377788 disease +MONDO:0017183 hyperinsulinism due to UCP2 deficiency MONDO:0000001 Orphanet:276556 Orphanet:377788 disease +MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency MONDO:0000001 Orphanet:276575 Orphanet:377788 disease +MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency MONDO:0000001 Orphanet:276580 Orphanet:377788 disease +MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency MONDO:0000001 Orphanet:276598 Orphanet:377788 disease +MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency MONDO:0000001 Orphanet:276603 Orphanet:377788 disease +MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia MONDO:0000001 Orphanet:276608 Orphanet:377788 disease +MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma MONDO:0000001 Orphanet:276621 Orphanet:377788 disease +MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome MONDO:0000001 Orphanet:2795 Orphanet:377788 disease +MONDO:0017202 acute endophthalmitis MONDO:0016047 Orphanet:279888 Orphanet:199323 endophthalmitis +MONDO:0017203 chronic endophthalmitis MONDO:0016047 Orphanet:279891 Orphanet:199323 endophthalmitis +MONDO:0017204 toxic maculopathy due to antimalarial drugs MONDO:0000001 Orphanet:279894 Orphanet:377788 disease +MONDO:0017205 primary oculocerebral lymphoma MONDO:0000001 Orphanet:279897 Orphanet:377788 disease +MONDO:0017209 infectious posterior uveitis MONDO:0000001 Orphanet:279919 Orphanet:377788 disease +MONDO:0017210 infectious anterior uveitis MONDO:0000001 Orphanet:279922 Orphanet:377788 disease +MONDO:0017210 infectious anterior uveitis MONDO:0006651 Orphanet:279922 Orphanet:280886 anterior uveitis +MONDO:0017211 infectious panuveitis MONDO:0000001 Orphanet:279925 Orphanet:377788 disease +MONDO:0017212 paraneoplastic uveitis MONDO:0000001 Orphanet:279928 Orphanet:377788 disease +MONDO:0017214 vitamin B12-responsive methylmalonic acidemia MONDO:0000001 Orphanet:28 Orphanet:377788 disease +MONDO:0017215 calciphylaxis MONDO:0000001 Orphanet:280062 Orphanet:377788 disease +MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:0000001 Orphanet:280270 Orphanet:377788 disease +MONDO:0017227 autoimmune pancreatitis type 1 MONDO:0017287 Orphanet:280302 Orphanet:596448 IgG4-related disease +MONDO:0017228 autoimmune pancreatitis type 2 MONDO:0000001 Orphanet:280315 Orphanet:377788 disease +MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0000001 Orphanet:280365 Orphanet:377788 disease +MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy MONDO:0000001 Orphanet:280379 Orphanet:377788 disease +MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome MONDO:0000001 Orphanet:280384 Orphanet:377788 disease +MONDO:0017233 familial Alzheimer-like prion disease MONDO:0000001 Orphanet:280397 Orphanet:377788 disease +MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin MONDO:0000001 Orphanet:280598 Orphanet:377788 disease +MONDO:0017238 hemoglobinopathy Toms River MONDO:0000001 Orphanet:280615 Orphanet:377788 disease +MONDO:0017239 familial progressive hyper- and hypopigmentation MONDO:0000001 Orphanet:280628 Orphanet:377788 disease +MONDO:0017239 familial progressive hyper- and hypopigmentation MONDO:0019288 Orphanet:280628 Orphanet:79374 skin pigmentation disorder +MONDO:0017242 cutaneous collagenous vasculopathy MONDO:0000001 Orphanet:280779 Orphanet:377788 disease +MONDO:0017257 idiopathic posterior uveitis MONDO:0000001 Orphanet:280917 Orphanet:377788 disease +MONDO:0017258 idiopathic panuveitis MONDO:0000001 Orphanet:280921 Orphanet:377788 disease +MONDO:0017264 syndromic recessive X-linked ichthyosis MONDO:0000001 Orphanet:281090 Orphanet:377788 disease +MONDO:0017267 self-healing collodion baby MONDO:0000001 Orphanet:281122 Orphanet:377788 disease +MONDO:0017268 acral self-healing collodion baby MONDO:0000001 Orphanet:281127 Orphanet:377788 disease +MONDO:0017279 young-onset Parkinson disease MONDO:0000001 Orphanet:2828 Orphanet:377788 disease +MONDO:0017280 demodicidosis MONDO:0000001 Orphanet:283 Orphanet:377788 disease +MONDO:0017282 alveolar echinococcosis MONDO:0000001 Orphanet:284 Orphanet:377788 disease +MONDO:0017287 IgG4-related disease MONDO:0000001 Orphanet:596448 Orphanet:377788 disease +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0000001 Orphanet:284395 Orphanet:377788 disease +MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids MONDO:0000001 Orphanet:284448 Orphanet:377788 disease +MONDO:0017298 acute zonal occult outer retinopathy MONDO:0000001 Orphanet:284454 Orphanet:377788 disease +MONDO:0017299 acute annular outer retinopathy MONDO:0000001 Orphanet:284460 Orphanet:377788 disease +MONDO:0017309 neonatal Marfan syndrome MONDO:0000001 Orphanet:284979 Orphanet:377788 disease +MONDO:0017309 neonatal Marfan syndrome MONDO:0017310 Orphanet:284979 Orphanet:284993 Marfan and Marfan-related disorder +MONDO:0017312 Perrault syndrome MONDO:0000001 Orphanet:2855 Orphanet:377788 disease +MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0000001 Orphanet:286 Orphanet:377788 disease +MONDO:0017318 phakomatosis pigmentovascularis MONDO:0000001 Orphanet:2875 Orphanet:377788 disease +MONDO:0017319 hereditary elliptocytosis MONDO:0000001 Orphanet:288 Orphanet:377788 disease +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency MONDO:0000001 Orphanet:2880 Orphanet:377788 disease +MONDO:0017324 autosomal recessive hypophosphatemic rickets MONDO:0000001 Orphanet:289176 Orphanet:377788 disease +MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO:0000001 Orphanet:289266 Orphanet:377788 disease +MONDO:0017326 infective dermatitis associated with HTLV-1 MONDO:0000001 Orphanet:289347 Orphanet:377788 disease +MONDO:0017327 primary non-gestational choriocarcinoma of ovary MONDO:0000001 Orphanet:289356 Orphanet:377788 disease +MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome MONDO:0000001 Orphanet:289478 Orphanet:377788 disease +MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency MONDO:0000001 Orphanet:289548 Orphanet:377788 disease +MONDO:0017339 exfoliative ichthyosis MONDO:0000001 Orphanet:289586 Orphanet:377788 disease +MONDO:0017340 juvenile nasopharyngeal angiofibroma MONDO:0000001 Orphanet:289596 Orphanet:377788 disease +MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0000001 Orphanet:289661 Orphanet:377788 disease +MONDO:0017347 plasmablastic lymphoma MONDO:0000001 Orphanet:289666 Orphanet:377788 disease +MONDO:0017347 plasmablastic lymphoma MONDO:0017595 Orphanet:289666 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma +MONDO:0017348 lymphoepithelial-like carcinoma MONDO:0000001 Orphanet:289682 Orphanet:377788 disease +MONDO:0017349 myopericytoma MONDO:0000001 Orphanet:289685 Orphanet:377788 disease +MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism MONDO:0019189 Orphanet:289832 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism +MONDO:0017361 congenital rubella syndrome MONDO:0000001 Orphanet:290 Orphanet:377788 disease +MONDO:0017362 neuralgic amyotrophy MONDO:0000001 Orphanet:2901 Orphanet:377788 disease +MONDO:0017363 idiopathic chronic eosinophilic pneumonia MONDO:0000001 Orphanet:2902 Orphanet:377788 disease +MONDO:0017364 POEMS syndrome MONDO:0000001 Orphanet:2905 Orphanet:377788 disease +MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type MONDO:0000001 Orphanet:2907 Orphanet:377788 disease +MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO:0000001 Orphanet:29072 Orphanet:377788 disease +MONDO:0017372 congenital varicella syndrome MONDO:0000001 Orphanet:291 Orphanet:377788 disease +MONDO:0017373 poliomyelitis MONDO:0000001 Orphanet:2912 Orphanet:377788 disease +MONDO:0017373 poliomyelitis MONDO:0020010 Orphanet:2912 Orphanet:98010 infectious disorder of the nervous system +MONDO:0017375 congenital enterovirus infection MONDO:0000001 Orphanet:292 Orphanet:377788 disease +MONDO:0017376 reactive arthritis MONDO:0000001 Orphanet:29207 Orphanet:377788 disease +MONDO:0017380 juvenile polyposis syndrome MONDO:0000001 Orphanet:2929 Orphanet:377788 disease +MONDO:0017381 congenital herpes simplex virus infection MONDO:0000001 Orphanet:293 Orphanet:377788 disease +MONDO:0017381 congenital herpes simplex virus infection MONDO:0016511 Orphanet:293 Orphanet:232035 infectious embryofetopathy +MONDO:0017382 familial clubfoot due to 5q31 microdeletion MONDO:0016046 Orphanet:293144 Orphanet:199315 familial clubfoot with or without associated lower limb anomalies +MONDO:0017383 familial clubfoot due to PITX1 point mutation MONDO:0016046 Orphanet:293150 Orphanet:199315 familial clubfoot with or without associated lower limb anomalies +MONDO:0017384 acute generalized exanthematous pustulosis MONDO:0000001 Orphanet:293173 Orphanet:377788 disease +MONDO:0017385 malignant migrating partial seizures of infancy MONDO:0000001 Orphanet:293181 Orphanet:377788 disease +MONDO:0017387 epithelioid sarcoma MONDO:0000001 Orphanet:293202 Orphanet:377788 disease +MONDO:0017388 celiac trunk compression syndrome MONDO:0000001 Orphanet:293208 Orphanet:377788 disease +MONDO:0017391 Grayson-Wilbrandt corneal dystrophy MONDO:0000001 Orphanet:293375 Orphanet:377788 disease +MONDO:0017392 pre-descemet corneal dystrophy MONDO:0000001 Orphanet:293462 Orphanet:377788 disease +MONDO:0017394 ketamine-induced biliary dilatation MONDO:0000001 Orphanet:293807 Orphanet:377788 disease +MONDO:0017395 fixed pigmented erythema MONDO:0000001 Orphanet:293812 Orphanet:377788 disease +MONDO:0017404 distal Xq28 microduplication syndrome MONDO:0017010 Orphanet:293939 Orphanet:263783 partial duplication of the long arm of chromosome X +MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0000001 Orphanet:293978 Orphanet:377788 disease +MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0000001 Orphanet:293987 Orphanet:377788 disease +MONDO:0017409 fetal cytomegalovirus syndrome MONDO:0000001 Orphanet:294 Orphanet:377788 disease +MONDO:0017410 porencephaly MONDO:0000001 Orphanet:2940 Orphanet:377788 disease +MONDO:0017411 neonatal inflammatory skin and bowel disease MONDO:0000001 Orphanet:294023 Orphanet:377788 disease +MONDO:0017416 postpoliomyelitis syndrome MONDO:0000001 Orphanet:2942 Orphanet:377788 disease +MONDO:0017416 postpoliomyelitis syndrome MONDO:0020129 Orphanet:2942 Orphanet:98506 acquired motor neuron disease +MONDO:0017569 de Barsy syndrome MONDO:0000001 Orphanet:2962 Orphanet:377788 disease +MONDO:0017570 leukocyte adhesion deficiency MONDO:0000001 Orphanet:2968 Orphanet:377788 disease +MONDO:0017571 Proteus-like syndrome MONDO:0000001 Orphanet:2969 Orphanet:377788 disease +MONDO:0017572 tick-borne encephalitis MONDO:0000001 Orphanet:297 Orphanet:377788 disease +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0000001 Orphanet:298 Orphanet:377788 disease +MONDO:0017577 spontaneous periodic hypothermia MONDO:0000001 Orphanet:29822 Orphanet:377788 disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0000001 Orphanet:300385 Orphanet:377788 disease +MONDO:0017582 pituitary adenocarcinoma MONDO:0017611 Orphanet:300385 Orphanet:304055 pituitary tumor +MONDO:0017586 onychocytic matricoma MONDO:0000001 Orphanet:300504 Orphanet:377788 disease +MONDO:0017587 onychomatricoma MONDO:0000001 Orphanet:300512 Orphanet:377788 disease +MONDO:0017589 follicular cholangitis and pancreatitis MONDO:0000001 Orphanet:300552 Orphanet:377788 disease +MONDO:0017590 carcinoma of the ampulla of vater MONDO:0000001 Orphanet:300557 Orphanet:377788 disease +MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome MONDO:0000001 Orphanet:300564 Orphanet:377788 disease +MONDO:0017593 juvenile amyotrophic lateral sclerosis MONDO:0000001 Orphanet:300605 Orphanet:377788 disease +MONDO:0017593 juvenile amyotrophic lateral sclerosis MONDO:0024257 Orphanet:300605 Orphanet:98505 hereditary motor neuron disease +MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0000001 Orphanet:300849 Orphanet:377788 disease +MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma MONDO:0000001 Orphanet:300857 Orphanet:377788 disease +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0000001 Orphanet:300865 Orphanet:377788 disease +MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma MONDO:0000001 Orphanet:300869 Orphanet:377788 disease +MONDO:0017600 hairy cell leukemia variant MONDO:0000001 Orphanet:300878 Orphanet:377788 disease +MONDO:0017600 hairy cell leukemia variant MONDO:0017594 Orphanet:300878 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma +MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation MONDO:0000001 Orphanet:300888 Orphanet:377788 disease +MONDO:0017615 benign familial infantile epilepsy MONDO:0000001 Orphanet:306 Orphanet:377788 disease +MONDO:0017617 acquired adult-onset immunodeficiency MONDO:0000001 Orphanet:306431 Orphanet:377788 disease +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0000001 Orphanet:306516 Orphanet:377788 disease +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0015962 Orphanet:306516 Orphanet:183592 inherited renal tubular disease +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0017765 Orphanet:306516 Orphanet:309848 disorder of magnesium transport +MONDO:0017628 myospherulosis MONDO:0000001 Orphanet:306553 Orphanet:377788 disease +MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome MONDO:0000001 Orphanet:306669 Orphanet:377788 disease +MONDO:0017638 manganese poisoning MONDO:0000001 Orphanet:306682 Orphanet:377788 disease +MONDO:0017639 carbon monoxide-induced parkinsonism MONDO:0000001 Orphanet:306686 Orphanet:377788 disease +MONDO:0017640 cyanide-induced parkinsonism MONDO:0000001 Orphanet:306692 Orphanet:377788 disease +MONDO:0017649 hemidystonia-hemiatrophy syndrome MONDO:0000001 Orphanet:306741 Orphanet:377788 disease +MONDO:0017659 sporadic hyperekplexia MONDO:0000001 Orphanet:306776 Orphanet:377788 disease +MONDO:0017677 focal acral hyperkeratosis MONDO:0000001 Orphanet:308013 Orphanet:377788 disease +MONDO:0017708 mevalonate kinase deficiency MONDO:0000001 Orphanet:309025 Orphanet:377788 disease +MONDO:0017711 pancreatic colipase deficiency MONDO:0000001 Orphanet:309108 Orphanet:377788 disease +MONDO:0017712 combined pancreatic lipase-colipase deficiency MONDO:0000001 Orphanet:309111 Orphanet:377788 disease +MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:0018868 Orphanet:309256 Orphanet:512 metachromatic leukodystrophy +MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:0018868 Orphanet:309271 Orphanet:512 metachromatic leukodystrophy +MONDO:0017746 atypical Rett syndrome MONDO:0000001 Orphanet:3095 Orphanet:377788 disease +MONDO:0017767 rheumatic fever MONDO:0000001 Orphanet:3099 Orphanet:377788 disease +MONDO:0017775 melioidosis MONDO:0000001 Orphanet:31202 Orphanet:377788 disease +MONDO:0017776 nocardiosis MONDO:0000001 Orphanet:31204 Orphanet:377788 disease +MONDO:0017778 lamellar ichthyosis MONDO:0000001 Orphanet:313 Orphanet:377788 disease +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0000001 Orphanet:3137 Orphanet:377788 disease +MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma MONDO:0000001 Orphanet:313920 Orphanet:377788 disease +MONDO:0017785 PENS syndrome MONDO:0000001 Orphanet:313936 Orphanet:377788 disease +MONDO:0017787 erythroderma desquamativum MONDO:0000001 Orphanet:314 Orphanet:377788 disease +MONDO:0017789 idiopathic linear interstitial keratitis MONDO:0000001 Orphanet:314017 Orphanet:377788 disease +MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0000001 Orphanet:314022 Orphanet:377788 disease +MONDO:0017791 high bone mass osteogenesis imperfecta MONDO:0000001 Orphanet:314029 Orphanet:377788 disease +MONDO:0017795 ameloblastoma MONDO:0000001 Orphanet:314419 Orphanet:377788 disease +MONDO:0017802 ovarian fibrothecoma MONDO:0000001 Orphanet:314478 Orphanet:377788 disease +MONDO:0017803 primary progressive apraxia of speech MONDO:0000001 Orphanet:314566 Orphanet:377788 disease +MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO:0000001 Orphanet:314572 Orphanet:377788 disease +MONDO:0017809 parkinsonism due to ATP13A2 deficiency MONDO:0000001 Orphanet:314632 Orphanet:377788 disease +MONDO:0017809 parkinsonism due to ATP13A2 deficiency MONDO:0016295 Orphanet:314632 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0017810 variant ABeta2M amyloidosis MONDO:0000001 Orphanet:314652 Orphanet:377788 disease +MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia MONDO:0000001 Orphanet:314662 Orphanet:377788 disease +MONDO:0017814 primary bone lymphoma MONDO:0000001 Orphanet:314684 Orphanet:377788 disease +MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO:0000001 Orphanet:314718 Orphanet:377788 disease +MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency MONDO:0015613 Orphanet:314721 Orphanet:1653 dentin dysplasia +MONDO:0017823 somatomammotropinoma MONDO:0000001 Orphanet:314769 Orphanet:377788 disease +MONDO:0017824 familial isolated pituitary adenoma MONDO:0000001 Orphanet:314777 Orphanet:377788 disease +MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0000001 Orphanet:3148 Orphanet:377788 disease +MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0018078 Orphanet:3148 Orphanet:3394 soft tissue sarcoma +MONDO:0017833 primary hypereosinophilic syndrome MONDO:0000001 Orphanet:314950 Orphanet:377788 disease +MONDO:0017834 secondary hypereosinophilic syndrome MONDO:0000001 Orphanet:314962 Orphanet:377788 disease +MONDO:0017836 erythrokeratoderma en cocardes MONDO:0000001 Orphanet:315 Orphanet:377788 disease +MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO:0000001 Orphanet:3151 Orphanet:377788 disease +MONDO:0017842 Senior-Loken syndrome MONDO:0000001 Orphanet:3156 Orphanet:377788 disease +MONDO:0017844 Sezary syndrome MONDO:0000001 Orphanet:3162 Orphanet:377788 disease +MONDO:0017850 sirenomelia MONDO:0018639 Orphanet:3169 Orphanet:444941 caudal regression-sirenomelia spectrum +MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:316 Orphanet:377788 disease +MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:317 Orphanet:377788 disease +MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0000001 Orphanet:3173 Orphanet:377788 disease +MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0015650 Orphanet:3173 Orphanet:166463 epilepsy syndrome +MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0000001 Orphanet:3175 Orphanet:377788 disease +MONDO:0017858 acute erythroid leukemia MONDO:0000001 Orphanet:318 Orphanet:377788 disease +MONDO:0017860 methanol poisoning MONDO:0000001 Orphanet:31825 Orphanet:377788 disease +MONDO:0017861 ethylene glycol poisoning MONDO:0000001 Orphanet:31826 Orphanet:377788 disease +MONDO:0017862 paraquat poisoning MONDO:0000001 Orphanet:31827 Orphanet:377788 disease +MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO:0022754 Orphanet:319171 Orphanet:261965 chromosome 17p deletion +MONDO:0017869 chondroectodermal dysplasia with night blindness MONDO:0000001 Orphanet:319195 Orphanet:377788 disease +MONDO:0017872 Lujo hemorrhagic fever MONDO:0000001 Orphanet:319213 Orphanet:377788 disease +MONDO:0017874 Argentine hemorrhagic fever MONDO:0000001 Orphanet:319223 Orphanet:377788 disease +MONDO:0017874 Argentine hemorrhagic fever MONDO:0018087 Orphanet:319223 Orphanet:341 viral hemorrhagic fever +MONDO:0017875 Bolivian hemorrhagic fever MONDO:0000001 Orphanet:319229 Orphanet:377788 disease +MONDO:0017876 Venezuelan hemorrhagic fever MONDO:0000001 Orphanet:319234 Orphanet:377788 disease +MONDO:0017877 Brazilian hemorrhagic fever MONDO:0000001 Orphanet:319239 Orphanet:377788 disease +MONDO:0017878 Chapare hemorrhagic fever MONDO:0000001 Orphanet:319244 Orphanet:377788 disease +MONDO:0017879 hantavirus pulmonary syndrome MONDO:0000001 Orphanet:319247 Orphanet:377788 disease +MONDO:0017880 Rift valley fever MONDO:0000001 Orphanet:319251 Orphanet:377788 disease +MONDO:0017881 Kyasanur forest disease MONDO:0000001 Orphanet:319254 Orphanet:377788 disease +MONDO:0017882 Omsk hemorrhagic fever MONDO:0000001 Orphanet:319266 Orphanet:377788 disease +MONDO:0017884 papillary renal cell carcinoma MONDO:0000001 Orphanet:319298 Orphanet:377788 disease +MONDO:0017884 papillary renal cell carcinoma MONDO:0005086 Orphanet:319298 Orphanet:217071 renal cell carcinoma +MONDO:0017885 chromophobe renal cell carcinoma MONDO:0000001 Orphanet:319303 Orphanet:377788 disease +MONDO:0017885 chromophobe renal cell carcinoma MONDO:0005086 Orphanet:319303 Orphanet:217071 renal cell carcinoma +MONDO:0017886 MIT family translocation renal cell carcinoma MONDO:0000001 Orphanet:319308 Orphanet:377788 disease +MONDO:0017890 tubulocystic renal cell carcinoma MONDO:0000001 Orphanet:319325 Orphanet:377788 disease +MONDO:0017890 tubulocystic renal cell carcinoma MONDO:0005086 Orphanet:319325 Orphanet:217071 renal cell carcinoma +MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita MONDO:0000001 Orphanet:319332 Orphanet:377788 disease +MONDO:0017893 inherited acute myeloid leukemia MONDO:0000001 Orphanet:319465 Orphanet:377788 disease +MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0000001 Orphanet:319480 Orphanet:377788 disease +MONDO:0017895 familial papillary or follicular thyroid carcinoma MONDO:0000001 Orphanet:319487 Orphanet:377788 disease +MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0000001 Orphanet:3196 Orphanet:377788 disease +MONDO:0017906 amyloidosis cutis dyschromia MONDO:0000001 Orphanet:319635 Orphanet:377788 disease +MONDO:0017907 primary lymphoma of the conjunctiva MONDO:0000001 Orphanet:319667 Orphanet:377788 disease +MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0000001 Orphanet:32 Orphanet:377788 disease +MONDO:0017909 inherited glutathione synthetase deficiency MONDO:0019241 Orphanet:32 Orphanet:79196 inborn disorder of the gamma-glutamyl cycle +MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:0000001 Orphanet:3202 Orphanet:377788 disease +MONDO:0017917 maternally-inherited spastic paraplegia MONDO:0000001 Orphanet:320360 Orphanet:377788 disease +MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0000001 Orphanet:3240 Orphanet:377788 disease +MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0000001 Orphanet:324294 Orphanet:377788 disease +MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0000001 Orphanet:324299 Orphanet:377788 disease +MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations MONDO:0000001 Orphanet:324364 Orphanet:377788 disease +MONDO:0017931 hereditary inclusion body myopathy type 4 MONDO:0000001 Orphanet:324381 Orphanet:377788 disease +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0000001 Orphanet:324525 Orphanet:377788 disease +MONDO:0017935 hyperinsulinism due to HNF1A deficiency MONDO:0000001 Orphanet:324575 Orphanet:377788 disease +MONDO:0017936 benign Samaritan congenital myopathy MONDO:0000001 Orphanet:324581 Orphanet:377788 disease +MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain MONDO:0000001 Orphanet:324585 Orphanet:377788 disease +MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO:0000001 Orphanet:324611 Orphanet:377788 disease +MONDO:0017941 chikungunya MONDO:0000001 Orphanet:324625 Orphanet:377788 disease +MONDO:0017942 Hendra virus infection MONDO:0000001 Orphanet:324632 Orphanet:377788 disease +MONDO:0017943 autoerythrocyte sensitization syndrome MONDO:0000001 Orphanet:324636 Orphanet:377788 disease +MONDO:0017944 invasive non-typhoidal salmonellosis MONDO:0000001 Orphanet:324648 Orphanet:377788 disease +MONDO:0017945 ABetaL34V amyloidosis MONDO:0005620 Orphanet:324703 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017946 ABeta amyloidosis, Iowa type MONDO:0005620 Orphanet:324708 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017947 ABeta amyloidosis, Italian type MONDO:0005620 Orphanet:324713 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017948 ABetaA21G amyloidosis MONDO:0005620 Orphanet:324718 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017949 ABeta amyloidosis, Arctic type MONDO:0005620 Orphanet:324723 Orphanet:85458 cerebral amyloid angiopathy +MONDO:0017958 magic syndrome MONDO:0000001 Orphanet:324972 Orphanet:377788 disease +MONDO:0017968 46,XY ovotesticular disorder of sex development MONDO:0000001 Orphanet:325345 Orphanet:377788 disease +MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0000001 Orphanet:3261 Orphanet:377788 disease +MONDO:0017986 disorder of plasmalogens biosynthesis MONDO:0019053 Orphanet:3276 Orphanet:68373 peroxisomal disease +MONDO:0017988 multifocal atrial tachycardia MONDO:0000001 Orphanet:3282 Orphanet:377788 disease +MONDO:0017989 His bundle tachycardia MONDO:0000001 Orphanet:3283 Orphanet:377788 disease +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:0000001 Orphanet:3286 Orphanet:377788 disease +MONDO:0017991 Takayasu arteritis MONDO:0000001 Orphanet:3287 Orphanet:377788 disease +MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0000001 Orphanet:329173 Orphanet:377788 disease +MONDO:0017993 cerebral sinovenous thrombosis MONDO:0000001 Orphanet:329217 Orphanet:377788 disease +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0000001 Orphanet:329308 Orphanet:377788 disease +MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0000001 Orphanet:329319 Orphanet:377788 disease +MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0000001 Orphanet:329324 Orphanet:377788 disease +MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0000001 Orphanet:329336 Orphanet:377788 disease +MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0000001 Orphanet:329475 Orphanet:377788 disease +MONDO:0018006 adult-onset distal myopathy due to VCP mutation MONDO:0000001 Orphanet:329478 Orphanet:377788 disease +MONDO:0018008 idiopathic giant cell myocarditis MONDO:0000001 Orphanet:329874 Orphanet:377788 disease +MONDO:0018008 idiopathic giant cell myocarditis MONDO:0004994 Orphanet:329874 Orphanet:167848 cardiomyopathy +MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy MONDO:0000001 Orphanet:329883 Orphanet:377788 disease +MONDO:0018011 juvenile overlap myositis MONDO:0000001 Orphanet:329894 Orphanet:377788 disease +MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency MONDO:0000001 Orphanet:329942 Orphanet:377788 disease +MONDO:0018015 intermittent hydrarthrosis MONDO:0000001 Orphanet:329967 Orphanet:377788 disease +MONDO:0018018 wild type ATTR amyloidosis MONDO:0000001 Orphanet:330001 Orphanet:377788 disease +MONDO:0018019 lead poisoning MONDO:0000001 Orphanet:330015 Orphanet:377788 disease +MONDO:0018020 mercury poisoning MONDO:0000001 Orphanet:330021 Orphanet:377788 disease +MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0000001 Orphanet:330029 Orphanet:377788 disease +MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome MONDO:0000001 Orphanet:330032 Orphanet:377788 disease +MONDO:0018023 hemoglobin M disease MONDO:0000001 Orphanet:330041 Orphanet:377788 disease +MONDO:0018023 hemoglobin M disease MONDO:0019050 Orphanet:330041 Orphanet:68364 inherited hemoglobinopathy +MONDO:0018024 hydroa vacciniforme MONDO:0000001 Orphanet:330058 Orphanet:377788 disease +MONDO:0018025 chronic actinic dermatitis MONDO:0000001 Orphanet:330064 Orphanet:377788 disease +MONDO:0018029 congenital factor XIII deficiency MONDO:0000001 Orphanet:331 Orphanet:377788 disease +MONDO:0018031 granulomatous slack skin disease MONDO:0000001 Orphanet:33111 Orphanet:377788 disease +MONDO:0018031 granulomatous slack skin disease MONDO:0015821 Orphanet:33111 Orphanet:178566 mycosis fungoides and variants +MONDO:0018039 selective IgM deficiency MONDO:0000001 Orphanet:331235 Orphanet:377788 disease +MONDO:0018044 idiopathic hypersomnia MONDO:0000001 Orphanet:33208 Orphanet:377788 disease +MONDO:0018045 Hoyeraal-Hreidarsson syndrome MONDO:0000001 Orphanet:3322 Orphanet:377788 disease +MONDO:0018047 familial thrombomodulin anomalies MONDO:0000001 Orphanet:3324 Orphanet:377788 disease +MONDO:0018048 heparin-induced thrombocytopenia MONDO:0000001 Orphanet:3325 Orphanet:377788 disease +MONDO:0018051 Jessner lymphocytic infiltration of the skin MONDO:0000001 Orphanet:33314 Orphanet:377788 disease +MONDO:0018053 trichothiodystrophy MONDO:0000001 Orphanet:33364 Orphanet:377788 disease +MONDO:0018054 familial atrial fibrillation MONDO:0000001 Orphanet:334 Orphanet:377788 disease +MONDO:0018055 pediatric hepatocellular carcinoma MONDO:0000001 Orphanet:33402 Orphanet:377788 disease +MONDO:0018056 bullous lichen planus MONDO:0000001 Orphanet:33408 Orphanet:377788 disease +MONDO:0018059 meningococcal meningitis MONDO:0000001 Orphanet:33475 Orphanet:377788 disease +MONDO:0018059 meningococcal meningitis MONDO:0020010 Orphanet:33475 Orphanet:98010 infectious disorder of the nervous system +MONDO:0018060 congenital fibrinogen deficiency MONDO:0000001 Orphanet:335 Orphanet:377788 disease +MONDO:0018063 nodular non-suppurative panniculitis MONDO:0000001 Orphanet:33577 Orphanet:377788 disease +MONDO:0018077 tularemia MONDO:0000001 Orphanet:3392 Orphanet:377788 disease +MONDO:0018081 hemorrhagic fever-renal syndrome MONDO:0000001 Orphanet:340 Orphanet:377788 disease +MONDO:0018083 transient tyrosinemia of the newborn MONDO:0000001 Orphanet:3402 Orphanet:377788 disease +MONDO:0018083 transient tyrosinemia of the newborn MONDO:0017307 Orphanet:3402 Orphanet:284818 disorder of tyrosine metabolism +MONDO:0018086 ulerythema ophryogenesis MONDO:0000001 Orphanet:3406 Orphanet:377788 disease +MONDO:0018088 familial Mediterranean fever MONDO:0000001 Orphanet:342 Orphanet:377788 disease +MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0000001 Orphanet:3437 Orphanet:377788 disease +MONDO:0018094 Waardenburg syndrome MONDO:0000001 Orphanet:3440 Orphanet:377788 disease +MONDO:0018103 Quinquaud's folliculitis decalvans MONDO:0000001 Orphanet:346 Orphanet:377788 disease +MONDO:0018105 Wolfram syndrome MONDO:0000001 Orphanet:3463 Orphanet:377788 disease +MONDO:0018106 hereditary xanthinuria MONDO:0000001 Orphanet:3467 Orphanet:377788 disease +MONDO:0018108 idiopathic disseminated cytomegalovirus infection MONDO:0000001 Orphanet:35062 Orphanet:377788 disease +MONDO:0018109 fulminant viral hepatitis MONDO:0000001 Orphanet:35063 Orphanet:377788 disease +MONDO:0018115 epidermal nevus syndrome MONDO:0000001 Orphanet:35125 Orphanet:377788 disease +MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0000001 Orphanet:352530 Orphanet:377788 disease +MONDO:0018124 Oncogenic osteomalacia MONDO:0000001 Orphanet:352540 Orphanet:377788 disease +MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0000001 Orphanet:352587 Orphanet:377788 disease +MONDO:0018126 progressive myoclonic epilepsy with dystonia MONDO:0000001 Orphanet:352596 Orphanet:377788 disease +MONDO:0018127 16q24.1 microdeletion syndrome MONDO:0000001 Orphanet:352629 Orphanet:377788 disease +MONDO:0018128 phalangeal microgeodic syndrome MONDO:0000001 Orphanet:352636 Orphanet:377788 disease +MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity MONDO:0000001 Orphanet:352641 Orphanet:377788 disease +MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0000001 Orphanet:352649 Orphanet:377788 disease +MONDO:0018133 attenuated Chédiak-Higashi syndrome MONDO:0000001 Orphanet:352723 Orphanet:377788 disease +MONDO:0018135 oculocutaneous albinism type 1 MONDO:0000001 Orphanet:352731 Orphanet:377788 disease +MONDO:0018146 idiopathic macular telangiectasia type 1 MONDO:0000001 Orphanet:353344 Orphanet:377788 disease +MONDO:0018147 idiopathic macular telangiectasia type 3 MONDO:0000001 Orphanet:353351 Orphanet:377788 disease +MONDO:0018148 vasoproliferative tumor of retina MONDO:0000001 Orphanet:353356 Orphanet:377788 disease +MONDO:0018149 GM1 gangliosidosis MONDO:0000001 Orphanet:354 Orphanet:377788 disease +MONDO:0018150 Gaucher disease MONDO:0000001 Orphanet:355 Orphanet:377788 disease +MONDO:0018152 serpiginous choroiditis MONDO:0000001 Orphanet:35686 Orphanet:377788 disease +MONDO:0018153 Erdheim-Chester disease MONDO:0000001 Orphanet:35687 Orphanet:377788 disease +MONDO:0018155 lateral sclerosis MONDO:0000001 Orphanet:35689 Orphanet:377788 disease +MONDO:0018155 lateral sclerosis MONDO:0020128 Orphanet:35689 Orphanet:98503 motor neuron disorder +MONDO:0018155 lateral sclerosis MONDO:0024237 Orphanet:35689 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0000001 Orphanet:357008 Orphanet:377788 disease +MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0001549 Orphanet:357008 Orphanet:544458 hemolytic-uremic syndrome +MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0957097 Orphanet:357008 Orphanet:576742 hereditary hemolytic uremic syndrome +MONDO:0018162 neurometabolic disorder due to serine deficiency MONDO:0019239 Orphanet:35705 Orphanet:79194 inborn disorder of serine family metabolism +MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0000001 Orphanet:357058 Orphanet:377788 disease +MONDO:0018166 oral submucous fibrosis MONDO:0000001 Orphanet:357154 Orphanet:377788 disease +MONDO:0018167 primary essential cutis verticis gyrata MONDO:0000001 Orphanet:357220 Orphanet:377788 disease +MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0000001 Orphanet:357225 Orphanet:377788 disease +MONDO:0018173 acute opioid poisoning MONDO:0000001 Orphanet:35889 Orphanet:377788 disease +MONDO:0018175 combined deficiency of factor V and factor VIII MONDO:0000001 Orphanet:35909 Orphanet:377788 disease +MONDO:0018177 glioblastoma MONDO:0000001 Orphanet:360 Orphanet:377788 disease +MONDO:0018180 staphylococcal scarlet fever MONDO:0000001 Orphanet:36235 Orphanet:377788 disease +MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0000001 Orphanet:36236 Orphanet:377788 disease +MONDO:0018182 bullous impetigo MONDO:0000001 Orphanet:36237 Orphanet:377788 disease +MONDO:0018183 staphylococcal necrotizing pneumonia MONDO:0000001 Orphanet:36238 Orphanet:377788 disease +MONDO:0018184 gastric linitis plastica MONDO:0000001 Orphanet:36273 Orphanet:377788 disease +MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO:0000001 Orphanet:363429 Orphanet:377788 disease +MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0000001 Orphanet:363447 Orphanet:377788 disease +MONDO:0018192 paratesticular adenocarcinoma MONDO:0000001 Orphanet:363478 Orphanet:377788 disease +MONDO:0018193 testicular teratoma MONDO:0000001 Orphanet:363483 Orphanet:377788 disease +MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0000001 Orphanet:363534 Orphanet:377788 disease +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0000001 Orphanet:363549 Orphanet:377788 disease +MONDO:0018199 new-onset refractory status epilepticus MONDO:0000001 Orphanet:363558 Orphanet:377788 disease +MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0000001 Orphanet:363618 Orphanet:377788 disease +MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0000001 Orphanet:363677 Orphanet:377788 disease +MONDO:0018211 Balint syndrome MONDO:0000001 Orphanet:363746 Orphanet:377788 disease +MONDO:0018212 familial cervical artery dissection MONDO:0000001 Orphanet:36382 Orphanet:377788 disease +MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0000001 Orphanet:36386 Orphanet:377788 disease +MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0000001 Orphanet:36387 Orphanet:377788 disease +MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0000001 Orphanet:363969 Orphanet:377788 disease +MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0000001 Orphanet:364033 Orphanet:377788 disease +MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0015760 Orphanet:364033 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0000001 Orphanet:364039 Orphanet:377788 disease +MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0015760 Orphanet:364039 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0000001 Orphanet:364043 Orphanet:377788 disease +MONDO:0018226 infantile epileptic-dyskinetic encephalopathy MONDO:0000001 Orphanet:364063 Orphanet:377788 disease +MONDO:0018227 hypocomplementemic urticarial vasculitis MONDO:0000001 Orphanet:36412 Orphanet:377788 disease +MONDO:0018233 otopalatodigital syndrome spectrum disorder MONDO:0018230 Orphanet:364541 Orphanet:364526 skeletal dysplasia +MONDO:0018242 autoimmune hypoparathyroidism MONDO:0000001 Orphanet:36913 Orphanet:377788 disease +MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0000001 Orphanet:369847 Orphanet:377788 disease +MONDO:0018247 CADDS MONDO:0000001 Orphanet:369942 Orphanet:377788 disease +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0000001 Orphanet:369950 Orphanet:377788 disease +MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures MONDO:0000001 Orphanet:369999 Orphanet:377788 disease +MONDO:0018252 focal palmoplantar keratoderma with joint keratoses MONDO:0000001 Orphanet:370002 Orphanet:377788 disease +MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type MONDO:0000001 Orphanet:370015 Orphanet:377788 disease +MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation MONDO:0000001 Orphanet:370026 Orphanet:377788 disease +MONDO:0018258 Angora hair nevus MONDO:0000001 Orphanet:370039 Orphanet:377788 disease +MONDO:0018259 didymosis aplasticosebacea MONDO:0000001 Orphanet:370046 Orphanet:377788 disease +MONDO:0018260 scalp syndrome MONDO:0000001 Orphanet:370052 Orphanet:377788 disease +MONDO:0018261 Nevada syndrome MONDO:0000001 Orphanet:370059 Orphanet:377788 disease +MONDO:0018264 oculocutaneous albinism type 6 MONDO:0000001 Orphanet:370097 Orphanet:377788 disease +MONDO:0018266 ataxia - telangiectasia variant MONDO:0000001 Orphanet:370109 Orphanet:377788 disease +MONDO:0018268 Medich giant platelet syndrome MONDO:0000001 Orphanet:370127 Orphanet:377788 disease +MONDO:0018269 white platelet syndrome MONDO:0000001 Orphanet:370131 Orphanet:377788 disease +MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0000001 Orphanet:370334 Orphanet:377788 disease +MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0000001 Orphanet:370348 Orphanet:377788 disease +MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0000001 Orphanet:370930 Orphanet:377788 disease +MONDO:0018274 GM3 synthase deficiency MONDO:0000001 Orphanet:370933 Orphanet:377788 disease +MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0000001 Orphanet:370968 Orphanet:377788 disease +MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy MONDO:0000001 Orphanet:370997 Orphanet:377788 disease +MONDO:0018281 congenital muscular dystrophy with hyperlaxity MONDO:0000001 Orphanet:371007 Orphanet:377788 disease +MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum MONDO:0000001 Orphanet:371428 Orphanet:377788 disease +MONDO:0018301 interstitial cystitis MONDO:0000001 Orphanet:37202 Orphanet:377788 disease +MONDO:0018302 acquired kinky hair syndrome MONDO:0000001 Orphanet:37559 Orphanet:377788 disease +MONDO:0018305 chronic granulomatous disease MONDO:0000001 Orphanet:379 Orphanet:377788 disease +MONDO:0018306 Griscelli syndrome MONDO:0000001 Orphanet:381 Orphanet:377788 disease +MONDO:0018308 liver mesenchymal hamartoma MONDO:0000001 Orphanet:386 Orphanet:377788 disease +MONDO:0018309 Hirschsprung disease MONDO:0000001 Orphanet:388 Orphanet:377788 disease +MONDO:0018310 Langerhans cell histiocytosis MONDO:0000001 Orphanet:389 Orphanet:377788 disease +MONDO:0018311 acromelanosis MONDO:0000001 Orphanet:39 Orphanet:377788 disease +MONDO:0018312 histoplasmosis MONDO:0000001 Orphanet:390 Orphanet:377788 disease +MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression MONDO:0000001 Orphanet:391316 Orphanet:377788 disease +MONDO:0018315 X-linked osteoporosis with fractures MONDO:0000001 Orphanet:391330 Orphanet:377788 disease +MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0000001 Orphanet:391343 Orphanet:377788 disease +MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO:0000001 Orphanet:391366 Orphanet:377788 disease +MONDO:0018319 familial episodic pain syndrome MONDO:0000001 Orphanet:391384 Orphanet:377788 disease +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0000001 Orphanet:391408 Orphanet:377788 disease +MONDO:0018321 atypical juvenile parkinsonism MONDO:0000001 Orphanet:391411 Orphanet:377788 disease +MONDO:0018327 glomus tumor MONDO:0000001 Orphanet:391651 Orphanet:377788 disease +MONDO:0018328 homozygous familial hypercholesterolemia MONDO:0000001 Orphanet:391665 Orphanet:377788 disease +MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0000001 Orphanet:391723 Orphanet:377788 disease +MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0018511 Orphanet:391723 Orphanet:423982 epithelial tumor of the appendix +MONDO:0018334 chronic hiccup MONDO:0000001 Orphanet:396 Orphanet:377788 disease +MONDO:0018338 activated PI3K-delta syndrome MONDO:0000001 Orphanet:397596 Orphanet:377788 disease +MONDO:0018339 PrP systemic amyloidosis MONDO:0000001 Orphanet:397606 Orphanet:377788 disease +MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0000001 Orphanet:397695 Orphanet:377788 disease +MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0000001 Orphanet:397750 Orphanet:377788 disease +MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0016122 Orphanet:397750 Orphanet:206976 periodic paralysis +MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0000001 Orphanet:397922 Orphanet:377788 disease +MONDO:0018349 MAN1B1-congenital disorder of glycosylation MONDO:0000001 Orphanet:397941 Orphanet:377788 disease +MONDO:0018352 squamous cell carcinoma of penis MONDO:0000001 Orphanet:398058 Orphanet:377788 disease +MONDO:0018352 squamous cell carcinoma of penis MONDO:0001325 Orphanet:398058 Orphanet:398043 penile cancer +MONDO:0018353 refractory celiac disease MONDO:0000001 Orphanet:398063 Orphanet:377788 disease +MONDO:0018355 SIM1-related Prader-Willi-like syndrome MONDO:0000001 Orphanet:398079 Orphanet:377788 disease +MONDO:0018357 neonatal antiphospholipid syndrome MONDO:0000001 Orphanet:398097 Orphanet:377788 disease +MONDO:0018358 neonatal autoimmune hemolytic anemia MONDO:0000001 Orphanet:398109 Orphanet:377788 disease +MONDO:0018359 neonatal dermatomyositis MONDO:0000001 Orphanet:398117 Orphanet:377788 disease +MONDO:0018360 neonatal lupus erythematosus MONDO:0000001 Orphanet:398124 Orphanet:377788 disease +MONDO:0018361 neonatal scleroderma MONDO:0000001 Orphanet:398127 Orphanet:377788 disease +MONDO:0018362 persistent idiopathic facial pain MONDO:0000001 Orphanet:398147 Orphanet:377788 disease +MONDO:0018369 immature ovarian teratoma MONDO:0000001 Orphanet:398987 Orphanet:377788 disease +MONDO:0018369 immature ovarian teratoma MONDO:0018365 Orphanet:398987 Orphanet:398940 malignant non-epithelial tumor of ovary +MONDO:0018370 KLHL9-related early-onset distal myopathy MONDO:0000001 Orphanet:399081 Orphanet:377788 disease +MONDO:0018371 nebulin-related early-onset distal myopathy MONDO:0000001 Orphanet:399103 Orphanet:377788 disease +MONDO:0018375 traumatic avascular necrosis MONDO:0000001 Orphanet:399175 Orphanet:377788 disease +MONDO:0018376 secondary non-traumatic avascular necrosis MONDO:0000001 Orphanet:399180 Orphanet:377788 disease +MONDO:0018378 osteonecrosis of the jaw MONDO:0000001 Orphanet:399293 Orphanet:377788 disease +MONDO:0018380 idiopathic avascular necrosis MONDO:0000001 Orphanet:399307 Orphanet:377788 disease +MONDO:0018382 epiphysiolysis of the hip MONDO:0000001 Orphanet:399329 Orphanet:377788 disease +MONDO:0018382 epiphysiolysis of the hip MONDO:0005380 Orphanet:399329 Orphanet:399158 osteonecrosis +MONDO:0018394 male infertility with teratozoospermia due to single gene mutation MONDO:0000001 Orphanet:399808 Orphanet:377788 disease +MONDO:0018408 cystic echinococcosis MONDO:0000001 Orphanet:400 Orphanet:377788 disease +MONDO:0018416 autosomal recessive spastic paraplegia type 59 MONDO:0000001 Orphanet:401795 Orphanet:377788 disease +MONDO:0018417 autosomal recessive spastic paraplegia type 60 MONDO:0000001 Orphanet:401800 Orphanet:377788 disease +MONDO:0018418 autosomal recessive spastic paraplegia type 66 MONDO:0000001 Orphanet:401815 Orphanet:377788 disease +MONDO:0018419 autosomal recessive spastic paraplegia type 67 MONDO:0000001 Orphanet:401820 Orphanet:377788 disease +MONDO:0018421 autosomal recessive spastic paraplegia type 69 MONDO:0000001 Orphanet:401830 Orphanet:377788 disease +MONDO:0018422 autosomal recessive spastic paraplegia type 70 MONDO:0000001 Orphanet:401835 Orphanet:377788 disease +MONDO:0018423 autosomal recessive spastic paraplegia type 71 MONDO:0000001 Orphanet:401840 Orphanet:377788 disease +MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0000001 Orphanet:401901 Orphanet:377788 disease +MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) MONDO:0000001 Orphanet:402014 Orphanet:377788 disease +MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) MONDO:0000001 Orphanet:402017 Orphanet:377788 disease +MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) MONDO:0000001 Orphanet:402020 Orphanet:377788 disease +MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) MONDO:0000001 Orphanet:402023 Orphanet:377788 disease +MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations MONDO:0000001 Orphanet:402026 Orphanet:377788 disease +MONDO:0018439 eosinophilic colitis MONDO:0000001 Orphanet:402035 Orphanet:377788 disease +MONDO:0018439 eosinophilic colitis MONDO:0018438 Orphanet:402035 Orphanet:402029 eosinophilic gastrointestinal disease +MONDO:0018447 chondromyxoid fibroma MONDO:0000001 Orphanet:404507 Orphanet:377788 disease +MONDO:0018447 chondromyxoid fibroma MONDO:0019060 Orphanet:404507 Orphanet:68411 bone neoplasm +MONDO:0018449 acquired cystic disease-associated renal cell carcinoma MONDO:0000001 Orphanet:404514 Orphanet:377788 disease +MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 MONDO:0000001 Orphanet:404521 Orphanet:377788 disease +MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0000001 Orphanet:404560 Orphanet:377788 disease +MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0000001 Orphanet:405 Orphanet:377788 disease +MONDO:0018459 isolated glycerol kinase deficiency MONDO:0000001 Orphanet:408 Orphanet:377788 disease +MONDO:0018460 Eales disease MONDO:0000001 Orphanet:40923 Orphanet:377788 disease +MONDO:0018465 insulin autoimmune syndrome MONDO:0000001 Orphanet:411593 Orphanet:377788 disease +MONDO:0018467 nephropathic infantile cystinosis MONDO:0016239 Orphanet:411629 Orphanet:213 cystinosis +MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia MONDO:0000001 Orphanet:411696 Orphanet:377788 disease +MONDO:0018469 pulmonary non-tuberculous mycobacterial infection MONDO:0000001 Orphanet:411703 Orphanet:377788 disease +MONDO:0018471 generalized eruptive keratoacanthoma MONDO:0000001 Orphanet:411777 Orphanet:377788 disease +MONDO:0018472 familial isolated trichomegaly MONDO:0000001 Orphanet:411788 Orphanet:377788 disease +MONDO:0018473 hyperlipoproteinemia type 3 MONDO:0000001 Orphanet:412 Orphanet:377788 disease +MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO:0000001 Orphanet:412066 Orphanet:377788 disease +MONDO:0018476 dystonia-aphonia syndrome MONDO:0000001 Orphanet:412217 Orphanet:377788 disease +MONDO:0018480 carcinoma of esophagus, salivary gland type MONDO:0000001 Orphanet:418945 Orphanet:377788 disease +MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0000001 Orphanet:418951 Orphanet:377788 disease +MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0019086 Orphanet:418951 Orphanet:70482 carcinoma of esophagus +MONDO:0018483 secondary pulmonary alveolar proteinosis MONDO:0000001 Orphanet:420259 Orphanet:377788 disease +MONDO:0018486 visual snow syndrome MONDO:0000001 Orphanet:420556 Orphanet:377788 disease +MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency MONDO:0000001 Orphanet:420699 Orphanet:377788 disease +MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO:0000001 Orphanet:420789 Orphanet:377788 disease +MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0000001 Orphanet:422526 Orphanet:377788 disease +MONDO:0018493 malignant hyperthermia of anesthesia MONDO:0000001 Orphanet:423 Orphanet:377788 disease +MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0000001 Orphanet:423479 Orphanet:377788 disease +MONDO:0018500 cutaneous larva migrans MONDO:0000001 Orphanet:423717 Orphanet:377788 disease +MONDO:0018504 undifferentiated carcinoma of stomach MONDO:0000001 Orphanet:423786 Orphanet:377788 disease +MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome MONDO:0000001 Orphanet:423894 Orphanet:377788 disease +MONDO:0018509 squamous cell carcinoma of the small intestine MONDO:0000001 Orphanet:423968 Orphanet:377788 disease +MONDO:0018513 squamous cell carcinoma of colon MONDO:0000001 Orphanet:423994 Orphanet:377788 disease +MONDO:0018515 squamous cell carcinoma of rectum MONDO:0000001 Orphanet:424002 Orphanet:377788 disease +MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0000001 Orphanet:424039 Orphanet:377788 disease +MONDO:0018523 pancreatic mucinous cystadenoma MONDO:0000001 Orphanet:424053 Orphanet:377788 disease +MONDO:0018525 solid pseudopapillary carcinoma of pancreas MONDO:0000001 Orphanet:424065 Orphanet:377788 disease +MONDO:0018528 congenital myopathy with myasthenic-like onset MONDO:0000001 Orphanet:424107 Orphanet:377788 disease +MONDO:0018528 congenital myopathy with myasthenic-like onset MONDO:0019952 Orphanet:424107 Orphanet:97245 congenital myopathy +MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract MONDO:0000001 Orphanet:424970 Orphanet:377788 disease +MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract MONDO:0000001 Orphanet:424975 Orphanet:377788 disease +MONDO:0018535 biliary cystadenocarcinoma MONDO:0000001 Orphanet:424982 Orphanet:377788 disease +MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract MONDO:0000001 Orphanet:424991 Orphanet:377788 disease +MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract MONDO:0000001 Orphanet:424996 Orphanet:377788 disease +MONDO:0018540 PFAPA syndrome MONDO:0000001 Orphanet:42642 Orphanet:377788 disease +MONDO:0018541 familial hypoaldosteronism MONDO:0000001 Orphanet:427 Orphanet:377788 disease +MONDO:0018544 adrenoleukodystrophy MONDO:0000001 Orphanet:43 Orphanet:377788 disease +MONDO:0018544 adrenoleukodystrophy MONDO:0024237 Orphanet:43 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0018546 serotonin syndrome MONDO:0000001 Orphanet:43116 Orphanet:377788 disease +MONDO:0018556 Lambert-Eaton myasthenic syndrome MONDO:0000001 Orphanet:43393 Orphanet:377788 disease +MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0000001 Orphanet:435804 Orphanet:377788 disease +MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation MONDO:0000001 Orphanet:435819 Orphanet:377788 disease +MONDO:0018570 hypophosphatasia MONDO:0000001 Orphanet:436 Orphanet:377788 disease +MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO:0000001 Orphanet:436144 Orphanet:377788 disease +MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0000001 Orphanet:436271 Orphanet:377788 disease +MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO:0000001 Orphanet:436274 Orphanet:377788 disease +MONDO:0018582 GCGR-related hyperglucagonemia MONDO:0000001 Orphanet:438274 Orphanet:377788 disease +MONDO:0018583 human infection by orthopoxvirus MONDO:0000001 Orphanet:438279 Orphanet:377788 disease +MONDO:0018587 non-recovering obstetric brachial plexus lesion MONDO:0000001 Orphanet:439202 Orphanet:377788 disease +MONDO:0018588 ALECT2 amyloidosis MONDO:0000001 Orphanet:439224 Orphanet:377788 disease +MONDO:0018589 AApoAIV amyloidosis MONDO:0000001 Orphanet:439232 Orphanet:377788 disease +MONDO:0018591 ITM2B amyloidosis MONDO:0000001 Orphanet:439254 Orphanet:377788 disease +MONDO:0018591 ITM2B amyloidosis MONDO:0019065 Orphanet:439254 Orphanet:69 amyloidosis +MONDO:0018599 congenital oculomotor nerve palsy MONDO:0000001 Orphanet:440221 Orphanet:377788 disease +MONDO:0018599 congenital oculomotor nerve palsy MONDO:0001309 Orphanet:440221 Orphanet:98685 oculomotor nerve paralysis +MONDO:0018600 congenital abducens nerve palsy MONDO:0000001 Orphanet:440233 Orphanet:377788 disease +MONDO:0018602 necrotizing soft tissue infection MONDO:0000001 Orphanet:440368 Orphanet:377788 disease +MONDO:0018603 SFTPC- related interstitial lung disease MONDO:0000001 Orphanet:440392 Orphanet:377788 disease +MONDO:0018604 familial colorectal cancer type X MONDO:0000001 Orphanet:440437 Orphanet:377788 disease +MONDO:0018606 extensive peripapillary myelinated nerve fibers MONDO:0000001 Orphanet:440724 Orphanet:377788 disease +MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium MONDO:0000001 Orphanet:440727 Orphanet:377788 disease +MONDO:0018608 pure autonomic failure MONDO:0000001 Orphanet:441 Orphanet:377788 disease +MONDO:0018611 early-onset lamellar cataract MONDO:0020379 Orphanet:441452 Orphanet:98995 early-onset zonular cataract +MONDO:0018613 AH amyloidosis MONDO:0000001 Orphanet:442582 Orphanet:377788 disease +MONDO:0018614 undetermined early-onset epileptic encephalopathy MONDO:0000001 Orphanet:442835 Orphanet:377788 disease +MONDO:0018615 hemicrania continua MONDO:0000001 Orphanet:443070 Orphanet:377788 disease +MONDO:0018616 central serous chorioretinopathy MONDO:0000001 Orphanet:443079 Orphanet:377788 disease +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:0000001 Orphanet:443101 Orphanet:377788 disease +MONDO:0018621 lymphoplasmacytic lymphoma without IgM production MONDO:0000001 Orphanet:443159 Orphanet:377788 disease +MONDO:0018623 postpartum psychosis MONDO:0000001 Orphanet:443173 Orphanet:377788 disease +MONDO:0018624 spontaneous intracranial hypotension MONDO:0000001 Orphanet:443180 Orphanet:377788 disease +MONDO:0018626 paratyphoid fever MONDO:0000001 Orphanet:443227 Orphanet:377788 disease +MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0000001 Orphanet:444 Orphanet:377788 disease +MONDO:0018635 idiopathic phalangeal acro-osteolysis MONDO:0000001 Orphanet:444316 Orphanet:377788 disease +MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO:0000001 Orphanet:444463 Orphanet:377788 disease +MONDO:0018637 familial chylomicronemia syndrome MONDO:0000001 Orphanet:444490 Orphanet:377788 disease +MONDO:0018642 NIK deficiency MONDO:0000001 Orphanet:447731 Orphanet:377788 disease +MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B MONDO:0000001 Orphanet:447757 Orphanet:377788 disease +MONDO:0018647 secondary sclerosing cholangitis MONDO:0000001 Orphanet:447774 Orphanet:377788 disease +MONDO:0018648 Keratocystic odontogenic tumor MONDO:0000001 Orphanet:447777 Orphanet:377788 disease +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0000001 Orphanet:447961 Orphanet:377788 disease +MONDO:0018661 Zika virus infectious disease MONDO:0000001 Orphanet:448237 Orphanet:377788 disease +MONDO:0018666 hepatoblastoma MONDO:0000001 Orphanet:449 Orphanet:377788 disease +MONDO:0018668 scedosporiosis MONDO:0000001 Orphanet:449280 Orphanet:377788 disease +MONDO:0018669 snakebite envenomation MONDO:0000001 Orphanet:449285 Orphanet:377788 disease +MONDO:0018670 symptomatic form of fragile X syndrome in female carrier MONDO:0000001 Orphanet:449291 Orphanet:377788 disease +MONDO:0018670 symptomatic form of fragile X syndrome in female carrier MONDO:0019852 Orphanet:449291 Orphanet:95710 inherited primary ovarian failure +MONDO:0018676 eosinophilic angiocentric fibrosis MONDO:0000001 Orphanet:449566 Orphanet:377788 disease +MONDO:0018679 primary cutaneous plasmacytosis MONDO:0000001 Orphanet:451602 Orphanet:377788 disease +MONDO:0018680 cutaneous pseudolymphoma MONDO:0000001 Orphanet:451607 Orphanet:377788 disease +MONDO:0018682 congenital insensitivity to pain with severe intellectual disability MONDO:0000001 Orphanet:453510 Orphanet:377788 disease +MONDO:0018683 acquired ichthyosis MONDO:0000001 Orphanet:454 Orphanet:377788 disease +MONDO:0018684 idiopathic neonatal atrial flutter MONDO:0000001 Orphanet:45452 Orphanet:377788 disease +MONDO:0018685 incessant infant ventricular tachycardia MONDO:0000001 Orphanet:45453 Orphanet:377788 disease +MONDO:0018687 progressive muscular atrophy MONDO:0000001 Orphanet:454706 Orphanet:377788 disease +MONDO:0018687 progressive muscular atrophy MONDO:0020128 Orphanet:454706 Orphanet:98503 motor neuron disorder +MONDO:0018688 anti-p200 pemphigoid MONDO:0000001 Orphanet:454710 Orphanet:377788 disease +MONDO:0018689 plasma cell leukemia MONDO:0000001 Orphanet:454714 Orphanet:377788 disease +MONDO:0018690 Holmes-Adie syndrome MONDO:0000001 Orphanet:454718 Orphanet:377788 disease +MONDO:0018692 variably protease-sensitive prionopathy MONDO:0000001 Orphanet:454742 Orphanet:377788 disease +MONDO:0018695 avian influenza MONDO:0000001 Orphanet:454836 Orphanet:377788 disease +MONDO:0018696 corticobasal syndrome MONDO:0000001 Orphanet:454887 Orphanet:377788 disease +MONDO:0018698 hereditary neuroendocrine tumor of small intestine MONDO:0000001 Orphanet:456333 Orphanet:377788 disease +MONDO:0018702 Castleman-Kojima disease MONDO:0000001 Orphanet:457077 Orphanet:377788 disease +MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0000001 Orphanet:457205 Orphanet:377788 disease +MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome MONDO:0000001 Orphanet:457260 Orphanet:377788 disease +MONDO:0018712 composite hemangioendothelioma MONDO:0000001 Orphanet:458758 Orphanet:377788 disease +MONDO:0018713 retiform hemangioendothelioma MONDO:0000001 Orphanet:458763 Orphanet:377788 disease +MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0000001 Orphanet:458768 Orphanet:377788 disease +MONDO:0018716 partially involuting congenital hemangioma MONDO:0000001 Orphanet:458785 Orphanet:377788 disease +MONDO:0018734 verrucous hemangioma MONDO:0000001 Orphanet:464318 Orphanet:377788 disease +MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0000001 Orphanet:464321 Orphanet:377788 disease +MONDO:0018736 kaposiform lymphangiomatosis MONDO:0000001 Orphanet:464329 Orphanet:377788 disease +MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0000001 Orphanet:464343 Orphanet:377788 disease +MONDO:0018738 benign metanephric tumor MONDO:0000001 Orphanet:464359 Orphanet:377788 disease +MONDO:0018739 neonatal alloimmune neutropenia MONDO:0000001 Orphanet:464370 Orphanet:377788 disease +MONDO:0018740 drug-induced methemoglobinemia MONDO:0000001 Orphanet:464453 Orphanet:377788 disease +MONDO:0018742 familial gastric type 1 neuroendocrine tumor MONDO:0000001 Orphanet:464756 Orphanet:377788 disease +MONDO:0018744 oligodendroglial tumor MONDO:0021042 Orphanet:46484 Orphanet:182067 glioma +MONDO:0018746 mucous membrane pemphigoid MONDO:0000001 Orphanet:46486 Orphanet:377788 disease +MONDO:0018747 acquired epidermolysis bullosa MONDO:0000001 Orphanet:46487 Orphanet:377788 disease +MONDO:0018748 linear IgA Dermatosis MONDO:0000001 Orphanet:46488 Orphanet:377788 disease +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome MONDO:0000001 Orphanet:46532 Orphanet:377788 disease +MONDO:0018752 exercise-induced malignant hyperthermia MONDO:0000001 Orphanet:466650 Orphanet:377788 disease +MONDO:0018755 scorpion envenomation MONDO:0000001 Orphanet:466677 Orphanet:377788 disease +MONDO:0018756 euthyroid Graves orbitopathy MONDO:0000001 Orphanet:466682 Orphanet:377788 disease +MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome MONDO:0000001 Orphanet:466921 Orphanet:377788 disease +MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO:0000001 Orphanet:466962 Orphanet:377788 disease +MONDO:0018763 tubulinopathy-associated dysgyria MONDO:0000001 Orphanet:467166 Orphanet:377788 disease +MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis MONDO:0000001 Orphanet:468635 Orphanet:377788 disease +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:0000001 Orphanet:468641 Orphanet:377788 disease +MONDO:0018767 severe primary trimethylaminuria MONDO:0000001 Orphanet:468726 Orphanet:377788 disease +MONDO:0018768 familial cold autoinflammatory syndrome MONDO:0000001 Orphanet:47045 Orphanet:377788 disease +MONDO:0018769 isosporiasis MONDO:0000001 Orphanet:472 Orphanet:377788 disease +MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0000001 Orphanet:476093 Orphanet:377788 disease +MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0000001 Orphanet:476406 Orphanet:377788 disease +MONDO:0018781 KID syndrome MONDO:0000001 Orphanet:477 Orphanet:377788 disease +MONDO:0018783 fibroblastic rheumatism MONDO:0000001 Orphanet:477650 Orphanet:377788 disease +MONDO:0018784 pediatric multiple sclerosis MONDO:0000001 Orphanet:477738 Orphanet:377788 disease +MONDO:0018793 primary condylar hyperplasia MONDO:0000001 Orphanet:477781 Orphanet:377788 disease +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0000001 Orphanet:477787 Orphanet:377788 disease +MONDO:0018806 primary intrahepatic lithiasis MONDO:0000001 Orphanet:480506 Orphanet:377788 disease +MONDO:0018807 idiopathic ductopenia MONDO:0000001 Orphanet:480512 Orphanet:377788 disease +MONDO:0018809 idiopathic peliosis hepatis MONDO:0000001 Orphanet:480524 Orphanet:377788 disease +MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement MONDO:0000001 Orphanet:480541 Orphanet:377788 disease +MONDO:0018815 aneurysmal bone cyst MONDO:0000001 Orphanet:480553 Orphanet:377788 disease +MONDO:0018816 isolated neonatal sclerosing cholangitis MONDO:0000001 Orphanet:480556 Orphanet:377788 disease +MONDO:0018818 facial diplegia with paresthesias MONDO:0000001 Orphanet:480701 Orphanet:377788 disease +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0000001 Orphanet:480864 Orphanet:377788 disease +MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0000001 Orphanet:480898 Orphanet:377788 disease +MONDO:0018824 pyoderma gangrenosum MONDO:0000001 Orphanet:48104 Orphanet:377788 disease +MONDO:0018827 familial chilblain lupus MONDO:0000001 Orphanet:481662 Orphanet:377788 disease +MONDO:0018827 familial chilblain lupus MONDO:0015574 Orphanet:481662 Orphanet:163531 chronic cutaneous lupus erythematosus +MONDO:0018827 familial chilblain lupus MONDO:0019293 Orphanet:481662 Orphanet:79379 skin vascular disease +MONDO:0018827 familial chilblain lupus MONDO:0700264 Orphanet:481662 Orphanet:477647 type 1 interferonopathy +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0000001 Orphanet:481665 Orphanet:377788 disease +MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0700264 Orphanet:481665 Orphanet:477647 type 1 interferonopathy +MONDO:0018830 Kimura disease MONDO:0000001 Orphanet:482 Orphanet:377788 disease +MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease MONDO:0000001 Orphanet:482077 Orphanet:377788 disease +MONDO:0018837 postinfectious vasculitis MONDO:0000001 Orphanet:48435 Orphanet:377788 disease +MONDO:0018840 isolated congenital hepatic fibrosis MONDO:0000001 Orphanet:485426 Orphanet:377788 disease +MONDO:0018842 primary effusion lymphoma MONDO:0000001 Orphanet:48686 Orphanet:377788 disease +MONDO:0018842 primary effusion lymphoma MONDO:0017595 Orphanet:48686 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma +MONDO:0018845 focal myositis MONDO:0000001 Orphanet:48918 Orphanet:377788 disease +MONDO:0018849 dentinogenesis imperfecta MONDO:0000001 Orphanet:49042 Orphanet:377788 disease +MONDO:0018850 proliferating trichilemmal cyst MONDO:0000001 Orphanet:492 Orphanet:377788 disease +MONDO:0018851 familial keratoacanthoma MONDO:0000001 Orphanet:493 Orphanet:377788 disease +MONDO:0018852 achromatopsia MONDO:0000001 Orphanet:49382 Orphanet:377788 disease +MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma MONDO:0000001 Orphanet:495 Orphanet:377788 disease +MONDO:0018854 acquired purpura fulminans MONDO:0000001 Orphanet:49566 Orphanet:377788 disease +MONDO:0018856 lichen amyloidosis MONDO:0000001 Orphanet:49804 Orphanet:377788 disease +MONDO:0018857 creeping myiasis MONDO:0000001 Orphanet:504 Orphanet:377788 disease +MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome MONDO:0000001 Orphanet:505 Orphanet:377788 disease +MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0000001 Orphanet:50812 Orphanet:377788 disease +MONDO:0018864 Kikuchi-Fujimoto disease MONDO:0000001 Orphanet:50918 Orphanet:377788 disease +MONDO:0018865 striate palmoplantar keratoderma MONDO:0000001 Orphanet:50942 Orphanet:377788 disease +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0000001 Orphanet:51 Orphanet:377788 disease +MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0700264 Orphanet:51 Orphanet:477647 type 1 interferonopathy +MONDO:0018868 metachromatic leukodystrophy MONDO:0000001 Orphanet:512 Orphanet:377788 disease +MONDO:0018870 arterial calcification of infancy MONDO:0000001 Orphanet:51608 Orphanet:377788 disease +MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0000001 Orphanet:517 Orphanet:377788 disease +MONDO:0018872 acute megakaryoblastic leukemia MONDO:0000001 Orphanet:518 Orphanet:377788 disease +MONDO:0018873 anterior cutaneous nerve entrapment syndrome MONDO:0000001 Orphanet:51890 Orphanet:377788 disease +MONDO:0018874 acute myeloid leukemia MONDO:0015756 Orphanet:519 Orphanet:171895 myeloid hemopathy +MONDO:0018875 Li-Fraumeni syndrome MONDO:0000001 Orphanet:524 Orphanet:377788 disease +MONDO:0018876 mantle cell lymphoma MONDO:0000001 Orphanet:52416 Orphanet:377788 disease +MONDO:0018877 retinitis punctata albescens MONDO:0000001 Orphanet:52427 Orphanet:377788 disease +MONDO:0018879 lichen planopilaris MONDO:0000001 Orphanet:525 Orphanet:377788 disease +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0000001 Orphanet:528 Orphanet:377788 disease +MONDO:0018884 Roch-Leri mesosomatous lipomatosis MONDO:0000001 Orphanet:529 Orphanet:377788 disease +MONDO:0018885 orbital leiomyoma MONDO:0000001 Orphanet:52994 Orphanet:377788 disease +MONDO:0018889 hyaline body myopathy MONDO:0000001 Orphanet:53698 Orphanet:377788 disease +MONDO:0018891 familial tumoral calcinosis MONDO:0000001 Orphanet:53715 Orphanet:377788 disease +MONDO:0018895 Plummer-Vinson syndrome MONDO:0000001 Orphanet:54028 Orphanet:377788 disease +MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0000001 Orphanet:54057 Orphanet:377788 disease +MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0019737 Orphanet:54057 Orphanet:93573 thrombotic microangiopathy +MONDO:0018899 posterior cortical atrophy MONDO:0000001 Orphanet:54247 Orphanet:377788 disease +MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome MONDO:0000001 Orphanet:54251 Orphanet:377788 disease +MONDO:0018901 left ventricular noncompaction MONDO:0000001 Orphanet:54260 Orphanet:377788 disease +MONDO:0018902 hepatocellular adenoma MONDO:0000001 Orphanet:54272 Orphanet:377788 disease +MONDO:0018903 sarcocystosis MONDO:0000001 Orphanet:54368 Orphanet:377788 disease +MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:0000001 Orphanet:54370 Orphanet:377788 disease +MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:0019722 Orphanet:54370 Orphanet:93548 glomerular disorder +MONDO:0018906 follicular lymphoma MONDO:0000001 Orphanet:545 Orphanet:377788 disease +MONDO:0018907 craniopharyngioma MONDO:0000001 Orphanet:54595 Orphanet:377788 disease +MONDO:0018911 maturity-onset diabetes of the young MONDO:0000001 Orphanet:552 Orphanet:377788 disease +MONDO:0018913 malakoplakia MONDO:0000001 Orphanet:556 Orphanet:377788 disease +MONDO:0018914 hypotrichosis simplex MONDO:0000001 Orphanet:55654 Orphanet:377788 disease +MONDO:0018919 McCune-Albright syndrome MONDO:0000001 Orphanet:562 Orphanet:377788 disease +MONDO:0018920 peripartum cardiomyopathy MONDO:0000001 Orphanet:563 Orphanet:377788 disease +MONDO:0018922 cold agglutinin disease MONDO:0000001 Orphanet:56425 Orphanet:377788 disease +MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0000001 Orphanet:569 Orphanet:377788 disease +MONDO:0018927 SUNCT syndrome MONDO:0000001 Orphanet:57145 Orphanet:377788 disease +MONDO:0018929 medial condensing osteitis of the clavicle MONDO:0000001 Orphanet:57196 Orphanet:377788 disease +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0000001 Orphanet:577 Orphanet:377788 disease +MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0019248 Orphanet:577 Orphanet:79212 mucolipidosis +MONDO:0018932 cirrhotic cardiomyopathy MONDO:0000001 Orphanet:57777 Orphanet:377788 disease +MONDO:0018935 hairy cell leukemia MONDO:0000001 Orphanet:58017 Orphanet:377788 disease +MONDO:0018935 hairy cell leukemia MONDO:0017594 Orphanet:58017 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma +MONDO:0018936 osteoblastoma MONDO:0000001 Orphanet:58040 Orphanet:377788 disease +MONDO:0018936 osteoblastoma MONDO:0019060 Orphanet:58040 Orphanet:68411 bone neoplasm +MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0000001 Orphanet:581 Orphanet:377788 disease +MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0000001 Orphanet:582 Orphanet:377788 disease +MONDO:0018940 congenital myasthenic syndrome MONDO:0000001 Orphanet:590 Orphanet:377788 disease +MONDO:0018941 furuncular myiasis MONDO:0000001 Orphanet:591 Orphanet:377788 disease +MONDO:0018942 macrophagic myofasciitis MONDO:0000001 Orphanet:592 Orphanet:377788 disease +MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0000001 Orphanet:59306 Orphanet:377788 disease +MONDO:0018948 multiminicore myopathy MONDO:0000001 Orphanet:598 Orphanet:377788 disease +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0000001 Orphanet:6 Orphanet:377788 disease +MONDO:0018951 distal myopathy with vocal cord weakness MONDO:0000001 Orphanet:600 Orphanet:377788 disease +MONDO:0018952 argyria MONDO:0000001 Orphanet:60014 Orphanet:377788 disease +MONDO:0018955 recurrent respiratory papillomatosis MONDO:0000001 Orphanet:60032 Orphanet:377788 disease +MONDO:0018956 idiopathic bronchiectasis MONDO:0000001 Orphanet:60033 Orphanet:377788 disease +MONDO:0018957 pudendal neuralgia MONDO:0000001 Orphanet:60039 Orphanet:377788 disease +MONDO:0018961 familial melanoma MONDO:0000001 Orphanet:618 Orphanet:377788 disease +MONDO:0018963 hereditary methemoglobinemia MONDO:0000001 Orphanet:621 Orphanet:377788 disease +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0000001 Orphanet:622 Orphanet:377788 disease +MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0019222 Orphanet:622 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0018965 Alport syndrome MONDO:0000001 Orphanet:63 Orphanet:377788 disease +MONDO:0018974 paraneoplastic pemphigus MONDO:0000001 Orphanet:63455 Orphanet:377788 disease +MONDO:0018975 neurofibromatosis type 1 MONDO:0000001 Orphanet:636 Orphanet:377788 disease +MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0000001 Orphanet:639 Orphanet:377788 disease +MONDO:0018979 multifocal motor neuropathy MONDO:0000001 Orphanet:641 Orphanet:377788 disease +MONDO:0018981 benign idiopathic neonatal seizures MONDO:0000001 Orphanet:64545 Orphanet:377788 disease +MONDO:0018982 Niemann-Pick disease type C MONDO:0000001 Orphanet:646 Orphanet:377788 disease +MONDO:0018982 Niemann-Pick disease type C MONDO:0019245 Orphanet:646 Orphanet:79204 lysosomal lipid storage disorder +MONDO:0018983 Tolosa-Hunt syndrome MONDO:0000001 Orphanet:64686 Orphanet:377788 disease +MONDO:0018984 Oroya fever MONDO:0000001 Orphanet:64692 Orphanet:377788 disease +MONDO:0018987 granulomatous mastitis MONDO:0000001 Orphanet:64722 Orphanet:377788 disease +MONDO:0018988 iridocorneal endothelial syndrome MONDO:0000001 Orphanet:64734 Orphanet:377788 disease +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0000001 Orphanet:64753 Orphanet:377788 disease +MONDO:0018998 Leber congenital amaurosis MONDO:0000001 Orphanet:65 Orphanet:377788 disease +MONDO:0018999 LCAT deficiency MONDO:0000001 Orphanet:650 Orphanet:377788 disease +MONDO:0019002 Lhermitte-Duclos disease MONDO:0000001 Orphanet:65285 Orphanet:377788 disease +MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0000001 Orphanet:653 Orphanet:377788 disease +MONDO:0019004 kidney Wilms tumor MONDO:0000001 Orphanet:654 Orphanet:377788 disease +MONDO:0019005 nephronophthisis MONDO:0000001 Orphanet:655 Orphanet:377788 disease +MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome MONDO:0000001 Orphanet:656 Orphanet:377788 disease +MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0000001 Orphanet:65682 Orphanet:377788 disease +MONDO:0019009 isolated focal cortical dysplasia MONDO:0000001 Orphanet:65683 Orphanet:377788 disease +MONDO:0019012 Carpenter syndrome MONDO:0015338 Orphanet:65759 Orphanet:139393 syndromic craniosynostosis +MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0000001 Orphanet:663 Orphanet:377788 disease +MONDO:0019017 short fifth metacarpals-insulin resistance syndrome MONDO:0000001 Orphanet:66518 Orphanet:377788 disease +MONDO:0019018 Tako-tsubo cardiomyopathy MONDO:0000001 Orphanet:66529 Orphanet:377788 disease +MONDO:0019019 osteogenesis imperfecta MONDO:0000001 Orphanet:666 Orphanet:377788 disease +MONDO:0019020 PANDAS MONDO:0000001 Orphanet:66624 Orphanet:377788 disease +MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0000001 Orphanet:66633 Orphanet:377788 disease +MONDO:0019024 mast cell sarcoma MONDO:0000001 Orphanet:66661 Orphanet:377788 disease +MONDO:0019025 extracutaneous mastocytoma MONDO:0000001 Orphanet:66662 Orphanet:377788 disease +MONDO:0019025 extracutaneous mastocytoma MONDO:0007950 Orphanet:66662 Orphanet:98292 mastocytosis +MONDO:0019028 amoebiasis due to Entamoeba histolytica MONDO:0000001 Orphanet:67 Orphanet:377788 disease +MONDO:0019029 segmental odontomaxillary dysplasia MONDO:0000001 Orphanet:67039 Orphanet:377788 disease +MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia MONDO:0000001 Orphanet:67044 Orphanet:377788 disease +MONDO:0019035 pancreatoblastoma MONDO:0000001 Orphanet:677 Orphanet:377788 disease +MONDO:0019036 amoebiasis due to free-living amoebae MONDO:0000001 Orphanet:68 Orphanet:377788 disease +MONDO:0019037 progressive supranuclear palsy MONDO:0000001 Orphanet:683 Orphanet:377788 disease +MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization MONDO:0000001 Orphanet:69063 Orphanet:377788 disease +MONDO:0019074 bilateral acute depigmentation of the iris MONDO:0000001 Orphanet:69736 Orphanet:377788 disease +MONDO:0019076 circumscribed palmoplantar hypokeratosis MONDO:0000001 Orphanet:69744 Orphanet:377788 disease +MONDO:0019077 warty dyskeratoma MONDO:0000001 Orphanet:69745 Orphanet:377788 disease +MONDO:0019079 proximal spinal muscular atrophy MONDO:0000001 Orphanet:70 Orphanet:377788 disease +MONDO:0019079 proximal spinal muscular atrophy MONDO:0024257 Orphanet:70 Orphanet:98505 hereditary motor neuron disease +MONDO:0019080 alopecia totalis MONDO:0000001 Orphanet:700 Orphanet:377788 disease +MONDO:0019082 bullous pemphigoid MONDO:0000001 Orphanet:703 Orphanet:377788 disease +MONDO:0019084 radiation proctitis MONDO:0000001 Orphanet:70475 Orphanet:377788 disease +MONDO:0019085 vernal keratoconjunctivitis MONDO:0000001 Orphanet:70476 Orphanet:377788 disease +MONDO:0019087 cholangiocarcinoma MONDO:0000001 Orphanet:70567 Orphanet:377788 disease +MONDO:0019087 cholangiocarcinoma MONDO:0018531 Orphanet:70567 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract +MONDO:0019087 cholangiocarcinoma MONDO:0018918 Orphanet:70567 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract +MONDO:0019088 post-transplant lymphoproliferative disease MONDO:0000001 Orphanet:70568 Orphanet:377788 disease +MONDO:0019092 infantile apnea MONDO:0000001 Orphanet:70590 Orphanet:377788 disease +MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency MONDO:0000001 Orphanet:70593 Orphanet:377788 disease +MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0000001 Orphanet:70596 Orphanet:377788 disease +MONDO:0019095 plague MONDO:0000001 Orphanet:707 Orphanet:377788 disease +MONDO:0019100 neuromyelitis optica MONDO:0000001 Orphanet:71211 Orphanet:377788 disease +MONDO:0019101 retinal capillary malformation MONDO:0000001 Orphanet:71213 Orphanet:377788 disease +MONDO:0019104 Sandifer syndrome MONDO:0000001 Orphanet:71272 Orphanet:377788 disease +MONDO:0019105 renal nutcracker syndrome MONDO:0000001 Orphanet:71273 Orphanet:377788 disease +MONDO:0019107 Rh deficiency syndrome MONDO:0000001 Orphanet:71275 Orphanet:377788 disease +MONDO:0019108 silent sinus syndrome MONDO:0000001 Orphanet:71276 Orphanet:377788 disease +MONDO:0019109 CANOMAD syndrome MONDO:0000001 Orphanet:71279 Orphanet:377788 disease +MONDO:0019111 familial thrombocytosis MONDO:0000001 Orphanet:71493 Orphanet:377788 disease +MONDO:0019112 cancer-associated retinopathy MONDO:0000001 Orphanet:71505 Orphanet:377788 disease +MONDO:0019113 benign paroxysmal torticollis of infancy MONDO:0000001 Orphanet:71518 Orphanet:377788 disease +MONDO:0019120 pili bifurcati MONDO:0000001 Orphanet:720 Orphanet:377788 disease +MONDO:0019121 pneumocystosis MONDO:0000001 Orphanet:723 Orphanet:377788 disease +MONDO:0019122 idiopathic acute eosinophilic pneumonia MONDO:0000001 Orphanet:724 Orphanet:377788 disease +MONDO:0019123 continuous spikes and waves during sleep MONDO:0000001 Orphanet:725 Orphanet:377788 disease +MONDO:0019123 continuous spikes and waves during sleep MONDO:0020072 Orphanet:725 Orphanet:98259 childhood-onset epilepsy syndrome +MONDO:0019124 microscopic polyangiitis MONDO:0000001 Orphanet:727 Orphanet:377788 disease +MONDO:0019125 relapsing polychondritis MONDO:0000001 Orphanet:728 Orphanet:377788 disease +MONDO:0019127 polymyositis MONDO:0000001 Orphanet:732 Orphanet:377788 disease +MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO:0000001 Orphanet:73224 Orphanet:377788 disease +MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0000001 Orphanet:73230 Orphanet:377788 disease +MONDO:0019134 central neurocytoma MONDO:0000001 Orphanet:73256 Orphanet:377788 disease +MONDO:0019136 Zygomycosis MONDO:0000001 Orphanet:73263 Orphanet:377788 disease +MONDO:0019137 non-24-hour sleep-wake syndrome MONDO:0000001 Orphanet:73267 Orphanet:377788 disease +MONDO:0019140 acute ackee fruit intoxication MONDO:0000001 Orphanet:73423 Orphanet:377788 disease +MONDO:0019141 porokeratosis of Mibelli MONDO:0000001 Orphanet:735 Orphanet:377788 disease +MONDO:0019143 angiostrongyliasis MONDO:0000001 Orphanet:74 Orphanet:377788 disease +MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency MONDO:0000001 Orphanet:743 Orphanet:377788 disease +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:0000001 Orphanet:745 Orphanet:377788 disease +MONDO:0019151 oligocone trichromacy MONDO:0000001 Orphanet:75378 Orphanet:377788 disease +MONDO:0019155 Leydig cell hypoplasia MONDO:0000001 Orphanet:755 Orphanet:377788 disease +MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0000001 Orphanet:75564 Orphanet:377788 disease +MONDO:0019158 tropical endomyocardial fibrosis MONDO:0000001 Orphanet:75565 Orphanet:377788 disease +MONDO:0019159 Loeffler endocarditis MONDO:0000001 Orphanet:75566 Orphanet:377788 disease +MONDO:0019161 pseudohypoaldosteronism type 1 MONDO:0000001 Orphanet:756 Orphanet:377788 disease +MONDO:0019161 pseudohypoaldosteronism type 1 MONDO:0018638 Orphanet:756 Orphanet:444916 pseudohypoaldosteronism +MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:0000001 Orphanet:757 Orphanet:377788 disease +MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:0018638 Orphanet:757 Orphanet:444916 pseudohypoaldosteronism +MONDO:0019167 immunoglobulin A vasculitis MONDO:0000001 Orphanet:761 Orphanet:377788 disease +MONDO:0019168 pyomyositis MONDO:0000001 Orphanet:764 Orphanet:377788 disease +MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0000001 Orphanet:765 Orphanet:377788 disease +MONDO:0019170 polyarteritis nodosa MONDO:0000001 Orphanet:767 Orphanet:377788 disease +MONDO:0019171 familial long QT syndrome MONDO:0000001 Orphanet:101016 Orphanet:377788 disease +MONDO:0019173 rabies MONDO:0000001 Orphanet:770 Orphanet:377788 disease +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0000001 Orphanet:774 Orphanet:377788 disease +MONDO:0019186 Q fever MONDO:0000001 Orphanet:781 Orphanet:377788 disease +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:0017287 Orphanet:79078 Orphanet:596448 IgG4-related disease +MONDO:0019192 AKT2-related familial partial lipodystrophy MONDO:0000001 Orphanet:79085 Orphanet:377788 disease +MONDO:0019193 acquired generalized lipodystrophy MONDO:0000001 Orphanet:79086 Orphanet:377788 disease +MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome MONDO:0000001 Orphanet:79091 Orphanet:377788 disease +MONDO:0019197 folinic acid-responsive seizures MONDO:0000001 Orphanet:79097 Orphanet:377788 disease +MONDO:0019198 sympathetic ophthalmia MONDO:0000001 Orphanet:79098 Orphanet:377788 disease +MONDO:0019199 interstitial granulomatous dermatitis with arthritis MONDO:0000001 Orphanet:79099 Orphanet:377788 disease +MONDO:0019200 retinitis pigmentosa MONDO:0000001 Orphanet:791 Orphanet:377788 disease +MONDO:0019201 thyrotoxic periodic paralysis MONDO:0000001 Orphanet:79102 Orphanet:377788 disease +MONDO:0019201 thyrotoxic periodic paralysis MONDO:0016122 Orphanet:79102 Orphanet:206976 periodic paralysis +MONDO:0019202 myxofibrosarcoma MONDO:0000001 Orphanet:79105 Orphanet:377788 disease +MONDO:0019203 acute interstitial pneumonia MONDO:0000001 Orphanet:79126 Orphanet:377788 disease +MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome MONDO:0000001 Orphanet:79127 Orphanet:377788 disease +MONDO:0019207 DEND syndrome MONDO:0000001 Orphanet:79134 Orphanet:377788 disease +MONDO:0019207 DEND syndrome MONDO:0016391 Orphanet:79134 Orphanet:224 neonatal diabetes mellitus +MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:0000001 Orphanet:79138 Orphanet:377788 disease +MONDO:0019209 Japanese encephalitis MONDO:0000001 Orphanet:79139 Orphanet:377788 disease +MONDO:0019209 Japanese encephalitis MONDO:0006009 Orphanet:79139 Orphanet:98252 viral encephalitis +MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0000001 Orphanet:79140 Orphanet:377788 disease +MONDO:0019211 isolated congenital anonychia MONDO:0000001 Orphanet:79143 Orphanet:377788 disease +MONDO:0019212 disseminated superficial actinic porokeratosis MONDO:0000001 Orphanet:79152 Orphanet:377788 disease +MONDO:0019255 sphingolipidosis MONDO:0002561 Orphanet:79225 Orphanet:68366 lysosomal storage disease +MONDO:0019257 hemochromatosis type 2 MONDO:0000001 Orphanet:79230 Orphanet:377788 disease +MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0000001 Orphanet:79278 Orphanet:377788 disease +MONDO:0019266 SAPHO syndrome MONDO:0000001 Orphanet:793 Orphanet:377788 disease +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:0000001 Orphanet:79394 Orphanet:377788 disease +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0000001 Orphanet:79402 Orphanet:377788 disease +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0017612 Orphanet:79402 Orphanet:305 junctional epidermolysis bullosa +MONDO:0019308 junctional epidermolysis bullosa inversa MONDO:0000001 Orphanet:79405 Orphanet:377788 disease +MONDO:0019309 late-onset junctional epidermolysis bullosa MONDO:0000001 Orphanet:79406 Orphanet:377788 disease +MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa MONDO:0000001 Orphanet:79409 Orphanet:377788 disease +MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa MONDO:0006543 Orphanet:79409 Orphanet:303 epidermolysis bullosa dystrophica +MONDO:0019311 wooly hair nevus MONDO:0000001 Orphanet:79414 Orphanet:377788 disease +MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0000001 Orphanet:79430 Orphanet:377788 disease +MONDO:0019314 cutaneous mastocytoma MONDO:0000001 Orphanet:79455 Orphanet:377788 disease +MONDO:0019315 diffuse cutaneous mastocytosis MONDO:0000001 Orphanet:79456 Orphanet:377788 disease +MONDO:0019316 maculopapular cutaneous mastocytosis MONDO:0000001 Orphanet:79457 Orphanet:377788 disease +MONDO:0019321 atypical Werner syndrome MONDO:0000001 Orphanet:79474 Orphanet:377788 disease +MONDO:0019322 pemphigus vegetans MONDO:0000001 Orphanet:79479 Orphanet:377788 disease +MONDO:0019322 pemphigus vegetans MONDO:0019337 Orphanet:79479 Orphanet:79669 autoimmune bullous skin disease +MONDO:0019323 pemphigus erythematosus MONDO:0000001 Orphanet:79480 Orphanet:377788 disease +MONDO:0019324 pemphigus foliaceus MONDO:0000001 Orphanet:79481 Orphanet:377788 disease +MONDO:0019330 pili gemini MONDO:0000001 Orphanet:79492 Orphanet:377788 disease +MONDO:0019332 punctate palmoplantar keratoderma type 1 MONDO:0000001 Orphanet:79501 Orphanet:377788 disease +MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency MONDO:0000001 Orphanet:79643 Orphanet:377788 disease +MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency MONDO:0000001 Orphanet:79644 Orphanet:377788 disease +MONDO:0019338 sarcoidosis MONDO:0000001 Orphanet:797 Orphanet:377788 disease +MONDO:0019344 antisynthetase syndrome MONDO:0000001 Orphanet:81 Orphanet:377788 disease +MONDO:0019345 shigellosis MONDO:0000001 Orphanet:810 Orphanet:377788 disease +MONDO:0019346 sialidosis type 1 MONDO:0000001 Orphanet:812 Orphanet:377788 disease +MONDO:0019349 Sotos syndrome MONDO:0000001 Orphanet:821 Orphanet:377788 disease +MONDO:0019350 hereditary spherocytosis MONDO:0000001 Orphanet:822 Orphanet:377788 disease +MONDO:0019353 Stargardt disease MONDO:0000001 Orphanet:827 Orphanet:377788 disease +MONDO:0019354 Stickler syndrome MONDO:0000001 Orphanet:828 Orphanet:377788 disease +MONDO:0019355 adult-onset Still disease MONDO:0000001 Orphanet:829 Orphanet:377788 disease +MONDO:0019357 congenital narrowing of cervical spinal canal MONDO:0000001 Orphanet:831 Orphanet:377788 disease +MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0000001 Orphanet:833 Orphanet:377788 disease +MONDO:0019359 Rocky mountain spotted fever MONDO:0000001 Orphanet:83311 Orphanet:377788 disease +MONDO:0019360 rickettsialpox MONDO:0000001 Orphanet:83312 Orphanet:377788 disease +MONDO:0019362 epidemic louse-borne typhus MONDO:0000001 Orphanet:83314 Orphanet:377788 disease +MONDO:0019364 pseudotyphus of California MONDO:0000001 Orphanet:83316 Orphanet:377788 disease +MONDO:0019365 scrub typhus MONDO:0000001 Orphanet:83317 Orphanet:377788 disease +MONDO:0019366 free sialic acid storage disease MONDO:0000001 Orphanet:834 Orphanet:377788 disease +MONDO:0019367 regional odontodysplasia MONDO:0000001 Orphanet:83450 Orphanet:377788 disease +MONDO:0019368 florid cemento-osseous dysplasia MONDO:0000001 Orphanet:83451 Orphanet:377788 disease +MONDO:0019369 complex regional pain syndrome MONDO:0000001 Orphanet:83452 Orphanet:377788 disease +MONDO:0019370 vulvovaginal gingival syndrome MONDO:0000001 Orphanet:83453 Orphanet:377788 disease +MONDO:0019371 narcolepsy without cataplexy MONDO:0000001 Orphanet:83465 Orphanet:377788 disease +MONDO:0019372 solitary bone cyst MONDO:0000001 Orphanet:83468 Orphanet:377788 disease +MONDO:0019373 desmoplastic small round cell tumor MONDO:0000001 Orphanet:83469 Orphanet:377788 disease +MONDO:0019376 West-Nile encephalitis MONDO:0000001 Orphanet:83476 Orphanet:377788 disease +MONDO:0019376 West-Nile encephalitis MONDO:0006009 Orphanet:83476 Orphanet:98252 viral encephalitis +MONDO:0019377 Mycoplasma encephalitis MONDO:0000001 Orphanet:83482 Orphanet:377788 disease +MONDO:0019378 la Crosse encephalitis MONDO:0000001 Orphanet:83483 Orphanet:377788 disease +MONDO:0019378 la Crosse encephalitis MONDO:0006009 Orphanet:83483 Orphanet:98252 viral encephalitis +MONDO:0019380 western equine encephalitis MONDO:0000001 Orphanet:83593 Orphanet:377788 disease +MONDO:0019380 western equine encephalitis MONDO:0006009 Orphanet:83593 Orphanet:98252 viral encephalitis +MONDO:0019383 acute disseminated encephalomyelitis MONDO:0000001 Orphanet:83597 Orphanet:377788 disease +MONDO:0019384 encephalitis lethargica MONDO:0000001 Orphanet:83600 Orphanet:377788 disease +MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0000001 Orphanet:83601 Orphanet:377788 disease +MONDO:0019386 progressive rubella panencephalitis MONDO:0000001 Orphanet:83616 Orphanet:377788 disease +MONDO:0019390 Susac syndrome MONDO:0000001 Orphanet:838 Orphanet:377788 disease +MONDO:0019392 syringocystadenoma papilliferum MONDO:0000001 Orphanet:840 Orphanet:377788 disease +MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects MONDO:0000001 Orphanet:84065 Orphanet:377788 disease +MONDO:0019394 Senior-Boichis syndrome MONDO:0000001 Orphanet:84081 Orphanet:377788 disease +MONDO:0019395 Hinman syndrome MONDO:0000001 Orphanet:84085 Orphanet:377788 disease +MONDO:0019396 collagen type III glomerulopathy MONDO:0000001 Orphanet:84087 Orphanet:377788 disease +MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0000001 Orphanet:84132 Orphanet:377788 disease +MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0016187 Orphanet:84132 Orphanet:209041 qualitative or quantitative defects of desmin +MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0016197 Orphanet:84132 Orphanet:209193 qualitative or quantitative defects of selenoprotein N1 +MONDO:0019399 Isaac syndrome MONDO:0000001 Orphanet:84142 Orphanet:377788 disease +MONDO:0019402 beta thalassemia MONDO:0000001 Orphanet:848 Orphanet:377788 disease +MONDO:0019405 facial onset sensory and motor neuronopathy MONDO:0000001 Orphanet:85162 Orphanet:377788 disease +MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0000001 Orphanet:85172 Orphanet:377788 disease +MONDO:0019411 genochondromatosis type 1 MONDO:0000001 Orphanet:85197 Orphanet:377788 disease +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia MONDO:0000001 Orphanet:853 Orphanet:377788 disease +MONDO:0019421 X-linked intellectual disability, Seemanova type MONDO:0000001 Orphanet:85323 Orphanet:377788 disease +MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO:0000001 Orphanet:85327 Orphanet:377788 disease +MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type MONDO:0000001 Orphanet:85334 Orphanet:377788 disease +MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type MONDO:0000001 Orphanet:85336 Orphanet:377788 disease +MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome MONDO:0000001 Orphanet:85338 Orphanet:377788 disease +MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0000001 Orphanet:85408 Orphanet:377788 disease +MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0000001 Orphanet:85410 Orphanet:377788 disease +MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:0000001 Orphanet:85414 Orphanet:377788 disease +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis MONDO:0000001 Orphanet:85435 Orphanet:377788 disease +MONDO:0019436 psoriasis-related juvenile idiopathic arthritis MONDO:0000001 Orphanet:85436 Orphanet:377788 disease +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0000001 Orphanet:85438 Orphanet:377788 disease +MONDO:0019438 AL amyloidosis MONDO:0000001 Orphanet:85443 Orphanet:377788 disease +MONDO:0019439 AA amyloidosis MONDO:0000001 Orphanet:85445 Orphanet:377788 disease +MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0000001 Orphanet:85446 Orphanet:377788 disease +MONDO:0019441 ATTRV122I amyloidosis MONDO:0007100 Orphanet:85451 Orphanet:271861 familial amyloid neuropathy +MONDO:0019444 trichinellosis MONDO:0000001 Orphanet:863 Orphanet:377788 disease +MONDO:0019445 trichofolliculoma MONDO:0000001 Orphanet:864 Orphanet:377788 disease +MONDO:0019447 atypical lichen myxedematosus MONDO:0000001 Orphanet:86797 Orphanet:377788 disease +MONDO:0019448 benign adult familial myoclonic epilepsy MONDO:0000001 Orphanet:86814 Orphanet:377788 disease +MONDO:0019451 chronic neutrophilic leukemia MONDO:0000001 Orphanet:86829 Orphanet:377788 disease +MONDO:0019452 myeloproliferative neoplasm, unclassifiable MONDO:0000001 Orphanet:86830 Orphanet:377788 disease +MONDO:0019454 myelodysplastic syndrome with excess blasts MONDO:0000001 Orphanet:86839 Orphanet:377788 disease +MONDO:0019455 acute panmyelosis with myelofibrosis MONDO:0000001 Orphanet:86843 Orphanet:377788 disease +MONDO:0019456 acute myeloid leukemia with multilineage dysplasia MONDO:0000001 Orphanet:86845 Orphanet:377788 disease +MONDO:0019458 acute basophilic leukemia MONDO:0000001 Orphanet:86849 Orphanet:377788 disease +MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0000001 Orphanet:86852 Orphanet:377788 disease +MONDO:0019462 splenic marginal zone lymphoma MONDO:0000001 Orphanet:86854 Orphanet:377788 disease +MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease MONDO:0000001 Orphanet:86861 Orphanet:377788 disease +MONDO:0019464 heavy chain disease MONDO:0000001 Orphanet:86864 Orphanet:377788 disease +MONDO:0019465 nodal marginal zone B-cell lymphoma MONDO:0000001 Orphanet:86867 Orphanet:377788 disease +MONDO:0019466 lymphomatoid granulomatosis MONDO:0000001 Orphanet:86869 Orphanet:377788 disease +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0000001 Orphanet:86870 Orphanet:377788 disease +MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0000001 Orphanet:86871 Orphanet:377788 disease +MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0015760 Orphanet:86871 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0000001 Orphanet:86872 Orphanet:377788 disease +MONDO:0019470 aggressive NK-cell leukemia MONDO:0000001 Orphanet:86873 Orphanet:377788 disease +MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0000001 Orphanet:86875 Orphanet:377788 disease +MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0000001 Orphanet:86879 Orphanet:377788 disease +MONDO:0019473 enteropathy-associated T-cell lymphoma MONDO:0000001 Orphanet:86880 Orphanet:377788 disease +MONDO:0019474 hepatosplenic T-cell lymphoma MONDO:0000001 Orphanet:86882 Orphanet:377788 disease +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma MONDO:0000001 Orphanet:86884 Orphanet:377788 disease +MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified MONDO:0000001 Orphanet:86885 Orphanet:377788 disease +MONDO:0019479 histiocytic sarcoma MONDO:0000001 Orphanet:86896 Orphanet:377788 disease +MONDO:0019480 Langerhans cell sarcoma MONDO:0000001 Orphanet:86897 Orphanet:377788 disease +MONDO:0019480 Langerhans cell sarcoma MONDO:0020082 Orphanet:86897 Orphanet:98289 dendritic cell tumor +MONDO:0019483 methotrexate-associated lymphoproliferative disorders MONDO:0000001 Orphanet:86904 Orphanet:377788 disease +MONDO:0019484 hypothalamic hamartomas with gelastic seizures MONDO:0000001 Orphanet:86906 Orphanet:377788 disease +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome MONDO:0000001 Orphanet:86908 Orphanet:377788 disease +MONDO:0019487 epilepsy with myoclonic absences MONDO:0000001 Orphanet:86911 Orphanet:377788 disease +MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome MONDO:0000001 Orphanet:86918 Orphanet:377788 disease +MONDO:0019490 progressive familial heart block MONDO:0000001 Orphanet:871 Orphanet:377788 disease +MONDO:0019493 primary adult heart tumor MONDO:0000001 Orphanet:874 Orphanet:377788 disease +MONDO:0019494 primary pediatric heart tumor MONDO:0000001 Orphanet:875 Orphanet:377788 disease +MONDO:0019497 nonsyndromic genetic hearing loss MONDO:0000001 Orphanet:87884 Orphanet:377788 disease +MONDO:0019498 tungiasis MONDO:0000001 Orphanet:879 Orphanet:377788 disease +MONDO:0019500 extragonadal teratoma MONDO:0000001 Orphanet:883 Orphanet:377788 disease +MONDO:0019501 Usher syndrome MONDO:0000001 Orphanet:886 Orphanet:377788 disease +MONDO:0019504 superior limbic keratoconjunctivitis MONDO:0000001 Orphanet:88633 Orphanet:377788 disease +MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome MONDO:0000001 Orphanet:88643 Orphanet:377788 disease +MONDO:0019507 amelogenesis imperfecta MONDO:0000001 Orphanet:88661 Orphanet:377788 disease +MONDO:0019509 cutaneous leukocytoclastic angiitis MONDO:0000001 Orphanet:889 Orphanet:377788 disease +MONDO:0019514 hepatic veno-occlusive disease MONDO:0000001 Orphanet:890 Orphanet:377788 disease +MONDO:0019516 exudative vitreoretinopathy MONDO:0000001 Orphanet:891 Orphanet:377788 disease +MONDO:0019518 Waardenburg-Shah syndrome MONDO:0000001 Orphanet:897 Orphanet:377788 disease +MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other MONDO:0000001 Orphanet:89842 Orphanet:377788 disease +MONDO:0019526 erythema elevatum diutinum MONDO:0000001 Orphanet:90000 Orphanet:377788 disease +MONDO:0019527 undifferentiated connective tissue syndrome MONDO:0000001 Orphanet:90002 Orphanet:377788 disease +MONDO:0019528 inflammatory pseudotumor of the liver MONDO:0000001 Orphanet:90003 Orphanet:377788 disease +MONDO:0019529 radiation myelitis MONDO:0000001 Orphanet:90021 Orphanet:377788 disease +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency MONDO:0000001 Orphanet:90030 Orphanet:377788 disease +MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:0000001 Orphanet:90033 Orphanet:377788 disease +MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:0000001 Orphanet:90035 Orphanet:377788 disease +MONDO:0019534 mixed-type autoimmune hemolytic anemia MONDO:0000001 Orphanet:90036 Orphanet:377788 disease +MONDO:0019535 drug-induced autoimmune hemolytic anemia MONDO:0000001 Orphanet:90037 Orphanet:377788 disease +MONDO:0019537 hemoglobin D disease MONDO:0000001 Orphanet:90039 Orphanet:377788 disease +MONDO:0019538 Gaisbock syndrome MONDO:0000001 Orphanet:90041 Orphanet:377788 disease +MONDO:0019544 cocaine intoxication MONDO:0000001 Orphanet:90068 Orphanet:377788 disease +MONDO:0019545 systemic monochloroacetate poisoning MONDO:0000001 Orphanet:90069 Orphanet:377788 disease +MONDO:0019547 Wells syndrome MONDO:0000001 Orphanet:901 Orphanet:377788 disease +MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency MONDO:0000001 Orphanet:90118 Orphanet:377788 disease +MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy MONDO:0000001 Orphanet:90119 Orphanet:377788 disease +MONDO:0019551 hereditary motor and sensory neuropathy type 6 MONDO:0000001 Orphanet:90120 Orphanet:377788 disease +MONDO:0019552 centrifugal lipodystrophy MONDO:0000001 Orphanet:90156 Orphanet:377788 disease +MONDO:0019553 drug-induced localized lipodystrophy MONDO:0000001 Orphanet:90157 Orphanet:377788 disease +MONDO:0019554 idiopathic localized lipodystrophy MONDO:0000001 Orphanet:90158 Orphanet:377788 disease +MONDO:0019555 panniculitis and localized lipodystrophy MONDO:0000001 Orphanet:90159 Orphanet:377788 disease +MONDO:0019556 pressure-induced localized lipoatrophy MONDO:0000001 Orphanet:90160 Orphanet:377788 disease +MONDO:0019557 chilblain lupus MONDO:0000001 Orphanet:90280 Orphanet:377788 disease +MONDO:0019558 discoid lupus erythematosus MONDO:0000001 Orphanet:90281 Orphanet:377788 disease +MONDO:0019559 hypertrophic or verrucous lupus erythematosus MONDO:0000001 Orphanet:90282 Orphanet:377788 disease +MONDO:0019560 lupus erythematosus tumidus MONDO:0000001 Orphanet:90283 Orphanet:377788 disease +MONDO:0019561 lupus erythematosus panniculitis MONDO:0000001 Orphanet:90285 Orphanet:377788 disease +MONDO:0019562 localized scleroderma MONDO:0000001 Orphanet:90289 Orphanet:377788 disease +MONDO:0019565 hereditary von Willebrand disease MONDO:0000001 Orphanet:903 Orphanet:377788 disease +MONDO:0019571 autosomal dominant cutis laxa MONDO:0000001 Orphanet:90348 Orphanet:377788 disease +MONDO:0019571 autosomal dominant cutis laxa MONDO:0016175 Orphanet:90348 Orphanet:209 cutis laxa +MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0000001 Orphanet:90349 Orphanet:377788 disease +MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0016175 Orphanet:90349 Orphanet:209 cutis laxa +MONDO:0019573 autosomal recessive cutis laxa type 2 MONDO:0016175 Orphanet:90350 Orphanet:209 cutis laxa +MONDO:0019574 secondary intestinal lymphangiectasia MONDO:0000001 Orphanet:90363 Orphanet:377788 disease +MONDO:0019575 hypotrichosis simplex of the scalp MONDO:0000001 Orphanet:90368 Orphanet:377788 disease +MONDO:0019578 nodular lichen myxedematosus MONDO:0000001 Orphanet:90393 Orphanet:377788 disease +MONDO:0019579 discrete papular lichen myxedematosus MONDO:0000001 Orphanet:90394 Orphanet:377788 disease +MONDO:0019580 papular mucinosis of infancy MONDO:0000001 Orphanet:90395 Orphanet:377788 disease +MONDO:0019581 acral persistent papular mucinosis MONDO:0000001 Orphanet:90396 Orphanet:377788 disease +MONDO:0019582 self-healing papular mucinosis MONDO:0000001 Orphanet:90397 Orphanet:377788 disease +MONDO:0019591 panhypopituitarism MONDO:0000001 Orphanet:90695 Orphanet:377788 disease +MONDO:0019600 xeroderma pigmentosum MONDO:0000001 Orphanet:910 Orphanet:377788 disease +MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome MONDO:0000001 Orphanet:91136 Orphanet:377788 disease +MONDO:0019606 simple cryoglobulinemia MONDO:0000001 Orphanet:91139 Orphanet:377788 disease +MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:0000001 Orphanet:91140 Orphanet:377788 disease +MONDO:0019609 Zellweger spectrum disorders MONDO:0000001 Orphanet:912 Orphanet:377788 disease +MONDO:0019610 Zollinger-Ellison syndrome MONDO:0000001 Orphanet:913 Orphanet:377788 disease +MONDO:0019611 TSH-secreting pituitary adenoma MONDO:0000001 Orphanet:91347 Orphanet:377788 disease +MONDO:0019611 TSH-secreting pituitary adenoma MONDO:0003429 Orphanet:91347 Orphanet:314753 functioning pituitary gland adenoma +MONDO:0019612 functioning gonadotropic adenoma MONDO:0000001 Orphanet:91348 Orphanet:377788 disease +MONDO:0019613 non-functioning pituitary adenoma MONDO:0000001 Orphanet:91349 Orphanet:377788 disease +MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts MONDO:0000001 Orphanet:91350 Orphanet:377788 disease +MONDO:0019615 pituitary dermoid and epidermoid cysts MONDO:0000001 Orphanet:91351 Orphanet:377788 disease +MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome MONDO:0000001 Orphanet:91354 Orphanet:377788 disease +MONDO:0019621 chronic pneumonitis of infancy MONDO:0000001 Orphanet:91359 Orphanet:377788 disease +MONDO:0019622 non-specific interstitial pneumonia MONDO:0000001 Orphanet:91364 Orphanet:377788 disease +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection MONDO:0000001 Orphanet:91387 Orphanet:377788 disease +MONDO:0019627 isolated congenital alacrima MONDO:0000001 Orphanet:91416 Orphanet:377788 disease +MONDO:0019631 persistent hyperplastic primary vitreous MONDO:0000001 Orphanet:91495 Orphanet:377788 disease +MONDO:0019632 Lyme disease MONDO:0000001 Orphanet:91546 Orphanet:377788 disease +MONDO:0019633 relapsing fever MONDO:0000001 Orphanet:91547 Orphanet:377788 disease +MONDO:0019634 familial nasal acilia MONDO:0000001 Orphanet:922 Orphanet:377788 disease +MONDO:0019635 idiopathic achalasia MONDO:0000001 Orphanet:930 Orphanet:377788 disease +MONDO:0019641 Pauci-immune glomerulonephritis MONDO:0000001 Orphanet:93126 Orphanet:377788 disease +MONDO:0019642 vitamin D-dependent rickets, type 2 MONDO:0000001 Orphanet:93160 Orphanet:377788 disease +MONDO:0019643 transient pseudohypoaldosteronism MONDO:0000001 Orphanet:93164 Orphanet:377788 disease +MONDO:0019648 achondrogenesis MONDO:0000001 Orphanet:932 Orphanet:377788 disease +MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:0000001 Orphanet:93282 Orphanet:377788 disease +MONDO:0019667 spondyloepiphyseal dysplasia tarda MONDO:0000001 Orphanet:93284 Orphanet:377788 disease +MONDO:0019668 adenoma of pancreas MONDO:0000001 Orphanet:93292 Orphanet:377788 disease +MONDO:0019680 genochondromatosis type 2 MONDO:0000001 Orphanet:93398 Orphanet:377788 disease +MONDO:0019725 pediatric systemic lupus erythematosus MONDO:0000001 Orphanet:93552 Orphanet:377788 disease +MONDO:0019734 juvenile polymyositis MONDO:0000001 Orphanet:93568 Orphanet:377788 disease +MONDO:0019771 oromandibular dystonia MONDO:0000001 Orphanet:93958 Orphanet:377788 disease +MONDO:0019772 blepharospasm-oromandibular dystonia syndrome MONDO:0000001 Orphanet:93964 Orphanet:377788 disease +MONDO:0019788 non-secreting paraganglioma MONDO:0000001 Orphanet:94080 Orphanet:377788 disease +MONDO:0019789 cytophagic histiocytic panniculitis MONDO:0000001 Orphanet:94087 Orphanet:377788 disease +MONDO:0019790 neuroleptic malignant syndrome MONDO:0000001 Orphanet:94093 Orphanet:377788 disease +MONDO:0019791 recessive mitochondrial ataxia syndrome MONDO:0000001 Orphanet:94125 Orphanet:377788 disease +MONDO:0019799 hepatoerythropoietic porphyria MONDO:0000001 Orphanet:95159 Orphanet:377788 disease +MONDO:0019802 secondary short bowel syndrome MONDO:0000001 Orphanet:95427 Orphanet:377788 disease +MONDO:0019803 angioma serpiginosum MONDO:0000001 Orphanet:95429 Orphanet:377788 disease +MONDO:0019805 twin to twin transfusion syndrome MONDO:0000001 Orphanet:95431 Orphanet:377788 disease +MONDO:0019810 toxic epidermal necrolysis MONDO:0000001 Orphanet:95455 Orphanet:377788 disease +MONDO:0019838 adenohypophysitis MONDO:0000001 Orphanet:95512 Orphanet:377788 disease +MONDO:0019839 panhypophysitis MONDO:0000001 Orphanet:95513 Orphanet:377788 disease +MONDO:0019845 iatrogenic or traumatic pituitary deficiency MONDO:0000001 Orphanet:95619 Orphanet:377788 disease +MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies MONDO:0000001 Orphanet:95715 Orphanet:377788 disease +MONDO:0019858 idiopathic congenital hypothyroidism MONDO:0000001 Orphanet:95717 Orphanet:377788 disease +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion MONDO:0012455 Orphanet:96147 Orphanet:261494 Kleefstra syndrome +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance MONDO:0019155 Orphanet:96265 Orphanet:755 Leydig cell hypoplasia +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance MONDO:0019155 Orphanet:96266 Orphanet:755 Leydig cell hypoplasia +MONDO:0019933 acromegaly MONDO:0000001 Orphanet:963 Orphanet:377788 disease +MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 MONDO:0000001 Orphanet:970 Orphanet:377788 disease +MONDO:0019943 hereditary continuous muscle fiber activity MONDO:0000001 Orphanet:972 Orphanet:377788 disease +MONDO:0019945 solar urticaria MONDO:0000001 Orphanet:97230 Orphanet:377788 disease +MONDO:0019947 rippling muscle disease 2 MONDO:0000001 Orphanet:97238 Orphanet:377788 disease +MONDO:0019948 reducing body myopathy MONDO:0000001 Orphanet:97239 Orphanet:377788 disease +MONDO:0019949 zebra body myopathy MONDO:0000001 Orphanet:97240 Orphanet:377788 disease +MONDO:0019949 zebra body myopathy MONDO:0019952 Orphanet:97240 Orphanet:97245 congenital myopathy +MONDO:0019951 rigid spine syndrome MONDO:0000001 Orphanet:97244 Orphanet:377788 disease +MONDO:0019955 GRFoma MONDO:0000001 Orphanet:97261 Orphanet:377788 disease +MONDO:0019957 PPoma MONDO:0000001 Orphanet:97278 Orphanet:377788 disease +MONDO:0019959 glucagonoma MONDO:0000001 Orphanet:97280 Orphanet:377788 disease +MONDO:0019960 VIPoma MONDO:0000001 Orphanet:97282 Orphanet:377788 disease +MONDO:0019962 thyroid lymphoma MONDO:0000001 Orphanet:97285 Orphanet:377788 disease +MONDO:0019962 thyroid lymphoma MONDO:0015074 Orphanet:97285 Orphanet:100087 thyroid tumor +MONDO:0019963 bronchial endocrine tumor MONDO:0000001 Orphanet:97287 Orphanet:377788 disease +MONDO:0019964 thymic neuroendocrine tumor MONDO:0000001 Orphanet:97289 Orphanet:377788 disease +MONDO:0019967 Kienbock disease MONDO:0000001 Orphanet:97332 Orphanet:377788 disease +MONDO:0019969 panner disease MONDO:0000001 Orphanet:97336 Orphanet:377788 disease +MONDO:0019970 Sinding-Larsen-Johansson disease MONDO:0000001 Orphanet:97337 Orphanet:377788 disease +MONDO:0019971 melanoma of soft tissue MONDO:0000001 Orphanet:97338 Orphanet:377788 disease +MONDO:0019973 persistent placoid maculopathy MONDO:0000001 Orphanet:97341 Orphanet:377788 disease +MONDO:0019975 pellagra MONDO:0000001 Orphanet:97352 Orphanet:377788 disease +MONDO:0019976 dementia pugilistica MONDO:0000001 Orphanet:97353 Orphanet:377788 disease +MONDO:0019977 parkinsonism with dementia of Guadeloupe MONDO:0000001 Orphanet:97355 Orphanet:377788 disease +MONDO:0019990 non-amyloid fibrillary glomerulopathy MONDO:0000001 Orphanet:97566 Orphanet:377788 disease +MONDO:0019991 immunotactoid glomerulopathy MONDO:0000001 Orphanet:97567 Orphanet:377788 disease +MONDO:0019993 congenital renal artery stenosis MONDO:0000001 Orphanet:97598 Orphanet:377788 disease +MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0000001 Orphanet:98784 Orphanet:377788 disease +MONDO:0020310 familial focal epilepsy with variable foci MONDO:0000001 Orphanet:98820 Orphanet:377788 disease +MONDO:0020311 chronic myelomonocytic leukemia MONDO:0000001 Orphanet:98823 Orphanet:377788 disease +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) MONDO:0000001 Orphanet:98829 Orphanet:377788 disease +MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities MONDO:0000001 Orphanet:98831 Orphanet:377788 disease +MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0000001 Orphanet:98834 Orphanet:377788 disease +MONDO:0020321 acute undifferentiated leukemia MONDO:0000001 Orphanet:98835 Orphanet:377788 disease +MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0000001 Orphanet:98838 Orphanet:377788 disease +MONDO:0020324 intravascular large B-cell lymphoma MONDO:0000001 Orphanet:98839 Orphanet:377788 disease +MONDO:0020325 anaplastic large cell lymphoma MONDO:0000001 Orphanet:98841 Orphanet:377788 disease +MONDO:0020325 anaplastic large cell lymphoma MONDO:0015760 Orphanet:98841 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0020326 lymphomatoid papulosis MONDO:0000001 Orphanet:98842 Orphanet:377788 disease +MONDO:0020331 indolent systemic mastocytosis MONDO:0000001 Orphanet:98848 Orphanet:377788 disease +MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease MONDO:0000001 Orphanet:98849 Orphanet:377788 disease +MONDO:0020333 aggressive systemic mastocytosis MONDO:0000001 Orphanet:98850 Orphanet:377788 disease +MONDO:0020334 mast cell leukemia MONDO:0000001 Orphanet:98851 Orphanet:377788 disease +MONDO:0020337 congenital dyserythropoietic anemia type 1 MONDO:0000001 Orphanet:98869 Orphanet:377788 disease +MONDO:0020338 adult pure red cell aplasia MONDO:0000001 Orphanet:98872 Orphanet:377788 disease +MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy MONDO:0000001 Orphanet:98916 Orphanet:377788 disease +MONDO:0020348 acute motor and sensory axonal neuropathy MONDO:0000001 Orphanet:98917 Orphanet:377788 disease +MONDO:0020349 acute motor axonal neuropathy MONDO:0000001 Orphanet:98918 Orphanet:377788 disease +MONDO:0020363 honey-droplet corneal dystrophy MONDO:0000001 Orphanet:98958 Orphanet:377788 disease +MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0000001 Orphanet:98973 Orphanet:377788 disease +MONDO:0020367 juvenile open angle glaucoma MONDO:0000001 Orphanet:98977 Orphanet:377788 disease +MONDO:0020378 early-onset posterior polar cataract MONDO:0020377 Orphanet:98993 Orphanet:98992 early-onset partial cataract +MONDO:0020380 autosomal dominant cerebellar ataxia MONDO:0100309 Orphanet:99 Orphanet:183518 hereditary ataxia +MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus MONDO:0000001 Orphanet:99003 Orphanet:377788 disease +MONDO:0020383 fundus pulverulentus MONDO:0000001 Orphanet:99004 Orphanet:377788 disease +MONDO:0020457 6-phosphogluconate dehydrogenase deficiency MONDO:0000001 Orphanet:99135 Orphanet:377788 disease +MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0000001 Orphanet:99138 Orphanet:377788 disease +MONDO:0020459 unstable hemoglobin disease MONDO:0000001 Orphanet:99139 Orphanet:377788 disease +MONDO:0020460 acquired von willebrand syndrome MONDO:0000001 Orphanet:99147 Orphanet:377788 disease +MONDO:0020467 mosaic monosomy X MONDO:0019499 Orphanet:99228 Orphanet:881 Turner syndrome +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis MONDO:0000001 Orphanet:99701 Orphanet:377788 disease +MONDO:0020478 Leber plus disease MONDO:0000001 Orphanet:99718 Orphanet:377788 disease +MONDO:0020479 pituitary gigantism MONDO:0000001 Orphanet:99725 Orphanet:377788 disease +MONDO:0020481 myotonia fluctuans MONDO:0000001 Orphanet:99734 Orphanet:377788 disease +MONDO:0020482 myotonia permanens MONDO:0000001 Orphanet:99735 Orphanet:377788 disease +MONDO:0020483 acetazolamide-responsive myotonia MONDO:0000001 Orphanet:99736 Orphanet:377788 disease +MONDO:0020485 King-Denborough syndrome MONDO:0019952 Orphanet:99741 Orphanet:97245 congenital myopathy +MONDO:0020487 Pontiac fever MONDO:0000001 Orphanet:99748 Orphanet:377788 disease +MONDO:0020495 PEHO-like syndrome MONDO:0000001 Orphanet:99807 Orphanet:377788 disease +MONDO:0020499 Nipah virus disease MONDO:0000001 Orphanet:99825 Orphanet:377788 disease +MONDO:0020500 Marburg hemorrhagic fever MONDO:0000001 Orphanet:99826 Orphanet:377788 disease +MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0000001 Orphanet:99827 Orphanet:377788 disease +MONDO:0020502 yellow fever MONDO:0000001 Orphanet:99829 Orphanet:377788 disease +MONDO:0020504 hereditary recurrent myoglobinuria MONDO:0000001 Orphanet:99845 Orphanet:377788 disease +MONDO:0020505 ravine syndrome MONDO:0000001 Orphanet:99852 Orphanet:377788 disease +MONDO:0020509 secondary syringomyelia MONDO:0000001 Orphanet:99857 Orphanet:377788 disease +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0000001 Orphanet:99860 Orphanet:377788 disease +MONDO:0020512 precursor T-cell acute lymphoblastic leukemia MONDO:0000001 Orphanet:99861 Orphanet:377788 disease +MONDO:0020513 spermatocytic seminoma MONDO:0000001 Orphanet:99865 Orphanet:377788 disease +MONDO:0020513 spermatocytic seminoma MONDO:0010108 Orphanet:99865 Orphanet:363504 testicular germ cell tumor +MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0000001 Orphanet:99869 Orphanet:377788 disease +MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0018079 Orphanet:99869 Orphanet:3398 thymic epithelial neoplasm +MONDO:0020527 ectopic Cushing syndrome MONDO:0000001 Orphanet:99889 Orphanet:377788 disease +MONDO:0020535 house allergic alveolitis MONDO:0000001 Orphanet:99907 Orphanet:377788 disease +MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary MONDO:0000001 Orphanet:99912 Orphanet:377788 disease +MONDO:0020540 ovarian gynandroblastoma MONDO:0000001 Orphanet:99914 Orphanet:377788 disease +MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0000001 Orphanet:99915 Orphanet:377788 disease +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary MONDO:0000001 Orphanet:99916 Orphanet:377788 disease +MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified MONDO:0000001 Orphanet:99917 Orphanet:377788 disease +MONDO:0020549 invasive hydatidiform mole MONDO:0000001 Orphanet:99925 Orphanet:377788 disease +MONDO:0020550 gestational choriocarcinoma MONDO:0000001 Orphanet:99926 Orphanet:377788 disease +MONDO:0020550 gestational choriocarcinoma MONDO:0020539 Orphanet:99926 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor +MONDO:0020552 placental site trophoblastic tumor MONDO:0000001 Orphanet:99928 Orphanet:377788 disease +MONDO:0020553 secondary pulmonary hemosiderosis MONDO:0000001 Orphanet:99930 Orphanet:377788 disease +MONDO:0020554 Heiner syndrome MONDO:0000001 Orphanet:99932 Orphanet:377788 disease +MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K MONDO:0000001 Orphanet:99944 Orphanet:377788 disease +MONDO:0020559 O'Sullivan-McLeod syndrome MONDO:0000001 Orphanet:99965 Orphanet:377788 disease +MONDO:0020559 O'Sullivan-McLeod syndrome MONDO:0020129 Orphanet:99965 Orphanet:98506 acquired motor neuron disease +MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0000001 Orphanet:99966 Orphanet:377788 disease +MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0018078 Orphanet:99966 Orphanet:3394 soft tissue sarcoma +MONDO:0020567 apnea of prematurity MONDO:0000001 Orphanet:99981 Orphanet:377788 disease +MONDO:0020569 intermediate DEND syndrome MONDO:0000001 Orphanet:99989 Orphanet:377788 disease +MONDO:0020569 intermediate DEND syndrome MONDO:0016391 Orphanet:99989 Orphanet:224 neonatal diabetes mellitus +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0000001 Orphanet:35173 Orphanet:377788 disease +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0015775 Orphanet:35173 Orphanet:176 non-rhizomelic chondrodysplasia punctata +MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0019240 Orphanet:35173 Orphanet:79195 sterol biosynthesis disorder +MONDO:0020654 renal pelvis/ureter urothelial carcinoma MONDO:0000001 Orphanet:598216 Orphanet:377788 disease +MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0000001 Orphanet:264580 Orphanet:377788 disease +MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:0000001 Orphanet:312 Orphanet:377788 disease +MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:0017266 Orphanet:312 Orphanet:281103 keratinopathic ichthyosis +MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0000001 Orphanet:75563 Orphanet:377788 disease +MONDO:0020743 mixed phenotype acute leukemia MONDO:0000001 Orphanet:530995 Orphanet:377788 disease +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0000001 Orphanet:555407 Orphanet:377788 disease +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0024237 Orphanet:555407 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0020783 capillary malformation-arteriovenous malformation 1 MONDO:0000001 Orphanet:90307 Orphanet:377788 disease +MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0000001 Orphanet:34516 Orphanet:377788 disease +MONDO:0021019 X-linked recessive ocular albinism MONDO:0000001 Orphanet:54 Orphanet:377788 disease +MONDO:0021022 hereditary hyperekplexia MONDO:0000001 Orphanet:3197 Orphanet:377788 disease +MONDO:0021023 complete androgen insensitivity syndrome MONDO:0000001 Orphanet:99429 Orphanet:377788 disease +MONDO:0021054 bone sarcoma MONDO:0019060 Orphanet:223727 Orphanet:68411 bone neoplasm +MONDO:0021055 classic familial adenomatous polyposis MONDO:0000001 Orphanet:733 Orphanet:377788 disease +MONDO:0021055 classic familial adenomatous polyposis MONDO:0015185 Orphanet:733 Orphanet:104010 intestinal polyposis syndrome +MONDO:0021081 anti-NMDA receptor encephalitis MONDO:0000001 Orphanet:217253 Orphanet:377788 disease +MONDO:0021102 prostate phyllodes tumor MONDO:0000001 Orphanet:498228 Orphanet:377788 disease +MONDO:0021133 acquired factor XIII deficiency MONDO:0000001 Orphanet:599513 Orphanet:377788 disease +MONDO:0021134 acquired factor X deficiency MONDO:0000001 Orphanet:599501 Orphanet:377788 disease +MONDO:0021169 epithelioid hemangioma MONDO:0000001 Orphanet:675396 Orphanet:377788 disease +MONDO:0021427 squamous cell carcinoma of lip MONDO:0000001 Orphanet:502366 Orphanet:377788 disease +MONDO:0021427 squamous cell carcinoma of lip MONDO:0044710 Orphanet:502366 Orphanet:502369 lip and oral cavity squamous cell carcinoma +MONDO:0021588 eyelid sebaceous gland carcinoma MONDO:0000001 Orphanet:658590 Orphanet:377788 disease +MONDO:0021660 deep seated dermatophytosis MONDO:0000001 Orphanet:397587 Orphanet:377788 disease +MONDO:0022513 atrophoderma of Pierini and Pasini MONDO:0000001 Orphanet:658810 Orphanet:377788 disease +MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0000001 Orphanet:617916 Orphanet:377788 disease +MONDO:0023188 Freiberg disease MONDO:0000001 Orphanet:564003 Orphanet:377788 disease +MONDO:0023275 Graham-Boyle-Troxell syndrome MONDO:0000001 Orphanet:2111 Orphanet:377788 disease +MONDO:0024326 pleural adenomatoid tumor MONDO:0000001 Orphanet:675814 Orphanet:377788 disease +MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0000001 Orphanet:35069 Orphanet:377788 disease +MONDO:0024472 boutonneuse fever MONDO:0000001 Orphanet:101334 Orphanet:377788 disease +MONDO:0024472 boutonneuse fever MONDO:0000001 Orphanet:83313 Orphanet:377788 disease +MONDO:0024472 boutonneuse fever MONDO:0001195 Orphanet:101334 Orphanet:102022 spotted fever +MONDO:0024472 boutonneuse fever MONDO:0001195 Orphanet:83313 Orphanet:102022 spotted fever +MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0000001 Orphanet:506090 Orphanet:377788 disease +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0000001 Orphanet:538931 Orphanet:377788 disease +MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0000001 Orphanet:251347 Orphanet:377788 disease +MONDO:0024559 aortic aneurysm, familial thoracic 1 MONDO:0000001 Orphanet:229 Orphanet:377788 disease +MONDO:0024568 infantile liver failure syndrome 1 MONDO:0000001 Orphanet:370088 Orphanet:377788 disease +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0000001 Orphanet:662184 Orphanet:377788 disease +MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0000001 Orphanet:66627 Orphanet:377788 disease +MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0000001 Orphanet:676125 Orphanet:377788 disease +MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked MONDO:0000001 Orphanet:675628 Orphanet:377788 disease +MONDO:0024781 immunodeficiency 102 MONDO:0000001 Orphanet:653751 Orphanet:377788 disease +MONDO:0025193 oculopharyngodistal myopathy MONDO:0000001 Orphanet:98897 Orphanet:377788 disease +MONDO:0025667 limbal stem cell deficiency MONDO:0000001 Orphanet:171673 Orphanet:377788 disease +MONDO:0026777 VEXAS syndrome MONDO:0000001 Orphanet:596753 Orphanet:377788 disease +MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 MONDO:0000001 Orphanet:565909 Orphanet:377788 disease +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0000001 Orphanet:542301 Orphanet:377788 disease +MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0000001 Orphanet:565837 Orphanet:377788 disease +MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000001 Orphanet:570491 Orphanet:377788 disease +MONDO:0030048 harderoporphyria MONDO:0000001 Orphanet:659672 Orphanet:377788 disease +MONDO:0030073 Mitchell syndrome MONDO:0000001 Orphanet:631248 Orphanet:377788 disease +MONDO:0030105 galactosemia 4 MONDO:0000001 Orphanet:570422 Orphanet:377788 disease +MONDO:0030482 spastic paraplegia 84, autosomal recessive MONDO:0000001 Orphanet:631079 Orphanet:377788 disease +MONDO:0030512 spastic paraplegia 85, autosomal recessive MONDO:0000001 Orphanet:631082 Orphanet:377788 disease +MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0000001 Orphanet:662216 Orphanet:377788 disease +MONDO:0030673 spastic paraplegia 86, autosomal recessive MONDO:0000001 Orphanet:631085 Orphanet:377788 disease +MONDO:0030805 spinocerebellar ataxia 49 MONDO:0000001 Orphanet:631106 Orphanet:377788 disease +MONDO:0030894 AMED syndrome, digenic MONDO:0000001 Orphanet:611216 Orphanet:377788 disease +MONDO:0030898 immunodeficiency 76 MONDO:0000001 Orphanet:647804 Orphanet:377788 disease +MONDO:0030899 oculocutaneous albinism type 8 MONDO:0000001 Orphanet:597733 Orphanet:377788 disease +MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0000001 Orphanet:610573 Orphanet:377788 disease +MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0000001 Orphanet:631088 Orphanet:377788 disease +MONDO:0031213 restrictive dermopathy MONDO:0000001 Orphanet:1662 Orphanet:377788 disease +MONDO:0031219 mismatch repair cancer syndrome MONDO:0000001 Orphanet:252202 Orphanet:377788 disease +MONDO:0031421 Olmsted syndrome MONDO:0000001 Orphanet:659 Orphanet:377788 disease +MONDO:0031446 hypercholanemia, familial 1 MONDO:0000001 Orphanet:238475 Orphanet:377788 disease +MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0000001 Orphanet:306558 Orphanet:377788 disease +MONDO:0032526 spinocerebellar ataxia 48 MONDO:0000001 Orphanet:631103 Orphanet:377788 disease +MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0000001 Orphanet:565788 Orphanet:377788 disease +MONDO:0032653 cardiac-urogenital syndrome MONDO:0000001 Orphanet:647811 Orphanet:377788 disease +MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0000001 Orphanet:557064 Orphanet:377788 disease +MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0017352 Orphanet:557064 Orphanet:289841 disorder of glutamine metabolism +MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0000001 Orphanet:636941 Orphanet:377788 disease +MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0000001 Orphanet:597874 Orphanet:377788 disease +MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0000001 Orphanet:615964 Orphanet:377788 disease +MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0000001 Orphanet:642085 Orphanet:377788 disease +MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0000001 Orphanet:565624 Orphanet:377788 disease +MONDO:0032737 spastic paraplegia 80, autosomal dominant MONDO:0000001 Orphanet:631068 Orphanet:377788 disease +MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0000001 Orphanet:477749 Orphanet:377788 disease +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0000001 Orphanet:99832 Orphanet:377788 disease +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0000001 Orphanet:659609 Orphanet:377788 disease +MONDO:0032830 snijders blok-fisher syndrome MONDO:0000001 Orphanet:656135 Orphanet:377788 disease +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0000001 Orphanet:664923 Orphanet:377788 disease +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant MONDO:0000001 Orphanet:675767 Orphanet:377788 disease +MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0000001 Orphanet:631073 Orphanet:377788 disease +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0000001 Orphanet:676039 Orphanet:377788 disease +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0000001 Orphanet:656279 Orphanet:377788 disease +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0000001 Orphanet:527497 Orphanet:377788 disease +MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0000001 Orphanet:476394 Orphanet:377788 disease +MONDO:0033203 nephrotic syndrome 14 MONDO:0000001 Orphanet:506334 Orphanet:377788 disease +MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0000001 Orphanet:569274 Orphanet:377788 disease +MONDO:0033479 spinocerebellar ataxia 44 MONDO:0000001 Orphanet:631095 Orphanet:377788 disease +MONDO:0033480 spinocerebellar ataxia 45 MONDO:0000001 Orphanet:589527 Orphanet:377788 disease +MONDO:0033481 spinocerebellar ataxia 46 MONDO:0000001 Orphanet:589522 Orphanet:377788 disease +MONDO:0033482 spinocerebellar ataxia 47 MONDO:0000001 Orphanet:642747 Orphanet:377788 disease +MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:0000001 Orphanet:641353 Orphanet:377788 disease +MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0000001 Orphanet:631076 Orphanet:377788 disease +MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0000001 Orphanet:544488 Orphanet:377788 disease +MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0000001 Orphanet:50817 Orphanet:377788 disease +MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0000001 Orphanet:508533 Orphanet:377788 disease +MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0000001 Orphanet:508542 Orphanet:377788 disease +MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation MONDO:0000001 Orphanet:512260 Orphanet:377788 disease +MONDO:0033809 isolated blepharochalasis MONDO:0000001 Orphanet:519390 Orphanet:377788 disease +MONDO:0033810 isolated iridoschisis MONDO:0000001 Orphanet:519392 Orphanet:377788 disease +MONDO:0033816 thygeson superficial punctate keratopathy MONDO:0000001 Orphanet:519406 Orphanet:377788 disease +MONDO:0033818 Terrien marginal degeneration MONDO:0000001 Orphanet:519410 Orphanet:377788 disease +MONDO:0033821 fungal keratitis MONDO:0000001 Orphanet:519930 Orphanet:377788 disease +MONDO:0033838 radiation-induced plexopathy MONDO:0000001 Orphanet:521123 Orphanet:377788 disease +MONDO:0033839 osteoradionecrosis of the mandible MONDO:0000001 Orphanet:521127 Orphanet:377788 disease +MONDO:0033839 osteoradionecrosis of the mandible MONDO:0005380 Orphanet:521127 Orphanet:399158 osteonecrosis +MONDO:0033839 osteoradionecrosis of the mandible MONDO:0043459 Orphanet:521127 Orphanet:521132 radiation-induced disorder +MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0000001 Orphanet:521411 Orphanet:377788 disease +MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0000001 Orphanet:521432 Orphanet:377788 disease +MONDO:0033856 LAMA5-related multisystemic syndrome MONDO:0000001 Orphanet:521450 Orphanet:377788 disease +MONDO:0033862 primary autoimmune enteropathy MONDO:0000001 Orphanet:522037 Orphanet:377788 disease +MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0000001 Orphanet:522077 Orphanet:377788 disease +MONDO:0033925 pediatric-onset Graves disease MONDO:0000001 Orphanet:525731 Orphanet:377788 disease +MONDO:0033926 prepubertal anorexia nervosa MONDO:0000001 Orphanet:525738 Orphanet:377788 disease +MONDO:0033946 hereditary angioedema with C1Inh deficiency MONDO:0000001 Orphanet:528623 Orphanet:377788 disease +MONDO:0033948 acquired angioedema with C1Inh deficiency MONDO:0000001 Orphanet:528663 Orphanet:377788 disease +MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0000001 Orphanet:529468 Orphanet:377788 disease +MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0000001 Orphanet:529977 Orphanet:377788 disease +MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome MONDO:0000001 Orphanet:529980 Orphanet:377788 disease +MONDO:0033980 RELA fusion-positive ependymoma MONDO:0000001 Orphanet:530792 Orphanet:377788 disease +MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome MONDO:0000001 Orphanet:536471 Orphanet:377788 disease +MONDO:0034022 Bethlem myopathy 2 MONDO:0000001 Orphanet:536516 Orphanet:377788 disease +MONDO:0034022 Bethlem myopathy 2 MONDO:0019950 Orphanet:536516 Orphanet:97242 congenital muscular dystrophy +MONDO:0034041 congenital axonal neuropathy with encephalopathy MONDO:0000001 Orphanet:538101 Orphanet:377788 disease +MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0000001 Orphanet:538958 Orphanet:377788 disease +MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0000001 Orphanet:543470 Orphanet:377788 disease +MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy MONDO:0000001 Orphanet:544254 Orphanet:377788 disease +MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0000001 Orphanet:544482 Orphanet:377788 disease +MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0000001 Orphanet:544503 Orphanet:377788 disease +MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0000001 Orphanet:544602 Orphanet:377788 disease +MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0000001 Orphanet:544628 Orphanet:377788 disease +MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0000001 Orphanet:555402 Orphanet:377788 disease +MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0024237 Orphanet:555402 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0034127 IgA pemphigus MONDO:0000001 Orphanet:555905 Orphanet:377788 disease +MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0000001 Orphanet:556955 Orphanet:377788 disease +MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0000001 Orphanet:556985 Orphanet:377788 disease +MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0024237 Orphanet:556985 Orphanet:183500 inherited neurodegenerative disorder +MONDO:0034145 oculocerebrodental syndrome MONDO:0000001 Orphanet:557003 Orphanet:377788 disease +MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0000001 Orphanet:557056 Orphanet:377788 disease +MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0017352 Orphanet:557056 Orphanet:289841 disorder of glutamine metabolism +MONDO:0034150 idiopathic gastroparesis MONDO:0000001 Orphanet:558411 Orphanet:377788 disease +MONDO:0034186 autosomal recessive extra-oral halitosis MONDO:0000001 Orphanet:562538 Orphanet:377788 disease +MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO:0000001 Orphanet:562639 Orphanet:377788 disease +MONDO:0034204 syndromic congenital sodium diarrhea MONDO:0000001 Orphanet:563708 Orphanet:377788 disease +MONDO:0034212 methotrexate toxicity MONDO:0000001 Orphanet:565782 Orphanet:377788 disease +MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha MONDO:0000001 Orphanet:566231 Orphanet:377788 disease +MONDO:0034846 primary desmosis coli MONDO:0000001 Orphanet:565641 Orphanet:377788 disease +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease MONDO:0000001 Orphanet:576379 Orphanet:377788 disease +MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas MONDO:0000001 Orphanet:580572 Orphanet:377788 disease +MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome MONDO:0000001 Orphanet:508512 Orphanet:377788 disease +MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form MONDO:0000001 Orphanet:583595 Orphanet:377788 disease +MONDO:0035008 isolated splenic vein thrombosis MONDO:0000001 Orphanet:583856 Orphanet:377788 disease +MONDO:0035009 isolated mesenteric vein thrombosis MONDO:0000001 Orphanet:583861 Orphanet:377788 disease +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0000001 Orphanet:585867 Orphanet:377788 disease +MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome MONDO:0000001 Orphanet:589515 Orphanet:377788 disease +MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement MONDO:0000001 Orphanet:589542 Orphanet:377788 disease +MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder MONDO:0000001 Orphanet:589547 Orphanet:377788 disease +MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0000001 Orphanet:589608 Orphanet:377788 disease +MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0000001 Orphanet:589905 Orphanet:377788 disease +MONDO:0035136 isolated melanotic schwannoma MONDO:0000001 Orphanet:590539 Orphanet:377788 disease +MONDO:0035136 isolated melanotic schwannoma MONDO:0016752 Orphanet:590539 Orphanet:252131 benign peripheral nerve sheath tumor +MONDO:0035136 isolated melanotic schwannoma MONDO:0018078 Orphanet:590539 Orphanet:3394 soft tissue sarcoma +MONDO:0035149 secondary erythromelalgia MONDO:0000001 Orphanet:529864 Orphanet:377788 disease +MONDO:0035349 localized dystrophic epidermolysis bullosa MONDO:0000001 Orphanet:595356 Orphanet:377788 disease +MONDO:0035357 portosinusoidal vascular disease MONDO:0000001 Orphanet:596937 Orphanet:377788 disease +MONDO:0035362 TRIM22-related inflammatory bowel disease MONDO:0000001 Orphanet:597201 Orphanet:377788 disease +MONDO:0035370 ALPI-related inflammatory bowel disease MONDO:0000001 Orphanet:597887 Orphanet:377788 disease +MONDO:0035375 multisystem inflammatory syndrome in children and adults MONDO:0000001 Orphanet:598363 Orphanet:377788 disease +MONDO:0035383 FOXG1 syndrome MONDO:0000001 Orphanet:561854 Orphanet:377788 disease +MONDO:0035423 triglyceride deposit cardiomyovasculopathy MONDO:0000001 Orphanet:565612 Orphanet:377788 disease +MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0000001 Orphanet:565899 Orphanet:377788 disease +MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome MONDO:0000001 Orphanet:566067 Orphanet:377788 disease +MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia MONDO:0000001 Orphanet:566192 Orphanet:377788 disease +MONDO:0035447 liver adenomatosis MONDO:0000001 Orphanet:566841 Orphanet:377788 disease +MONDO:0035452 mueller-weiss syndrome MONDO:0000001 Orphanet:566943 Orphanet:377788 disease +MONDO:0035472 GJC2-related late-onset primary lymphedema MONDO:0000001 Orphanet:568051 Orphanet:377788 disease +MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0000001 Orphanet:568056 Orphanet:377788 disease +MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis MONDO:0000001 Orphanet:568062 Orphanet:377788 disease +MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis MONDO:0000001 Orphanet:568065 Orphanet:377788 disease +MONDO:0035499 CELSR1-related late-onset primary lymphedema MONDO:0000001 Orphanet:569816 Orphanet:377788 disease +MONDO:0035500 congenital primary lymphedema of Gordon MONDO:0000001 Orphanet:569821 Orphanet:377788 disease +MONDO:0035511 ricin poisoning MONDO:0000001 Orphanet:570470 Orphanet:377788 disease +MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0019852 Orphanet:572354 Orphanet:95710 inherited primary ovarian failure +MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia MONDO:0000001 Orphanet:572428 Orphanet:377788 disease +MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0000001 Orphanet:575553 Orphanet:377788 disease +MONDO:0035584 punctate inner choroidopathy MONDO:0000001 Orphanet:580951 Orphanet:377788 disease +MONDO:0035586 Cramp-fasciculation syndrome MONDO:0000001 Orphanet:581271 Orphanet:377788 disease +MONDO:0035592 congenital infiltrating lipomatosis of the face MONDO:0000001 Orphanet:583097 Orphanet:377788 disease +MONDO:0035614 sporadic fatal insomnia MONDO:0000001 Orphanet:586130 Orphanet:377788 disease +MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0000001 Orphanet:592564 Orphanet:377788 disease +MONDO:0035678 Timothy syndrome type 1 MONDO:0010979 Orphanet:595098 Orphanet:65283 Timothy syndrome +MONDO:0035679 Timothy syndrome type 2 MONDO:0010979 Orphanet:595105 Orphanet:65283 Timothy syndrome +MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency MONDO:0000001 Orphanet:596759 Orphanet:377788 disease +MONDO:0035735 acquired hemophilia A MONDO:0000001 Orphanet:599480 Orphanet:377788 disease +MONDO:0035736 acquired hemophilia B MONDO:0000001 Orphanet:599485 Orphanet:377788 disease +MONDO:0035737 acquired factor V deficiency MONDO:0000001 Orphanet:599490 Orphanet:377788 disease +MONDO:0035738 acquired factor VII deficiency MONDO:0000001 Orphanet:599495 Orphanet:377788 disease +MONDO:0035740 acquired factor XI deficiency MONDO:0000001 Orphanet:599507 Orphanet:377788 disease +MONDO:0035742 factor V short isoforms-related bleeding disorder MONDO:0000001 Orphanet:599519 Orphanet:377788 disease +MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance MONDO:0018170 Orphanet:567546 Orphanet:357502 idiopathic nephrotic syndrome +MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0000001 Orphanet:600668 Orphanet:377788 disease +MONDO:0035776 combined deficiency of factor VII and factor X MONDO:0000001 Orphanet:600691 Orphanet:377788 disease +MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome MONDO:0000001 Orphanet:603694 Orphanet:377788 disease +MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers MONDO:0000001 Orphanet:604680 Orphanet:377788 disease +MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers MONDO:0018947 Orphanet:604680 Orphanet:595 centronuclear myopathy +MONDO:0035879 granuloma faciale MONDO:0000001 Orphanet:615943 Orphanet:377788 disease +MONDO:0035882 chronic intervillositis of unknown etiology MONDO:0000001 Orphanet:615970 Orphanet:377788 disease +MONDO:0035892 Mills syndrome MONDO:0000001 Orphanet:94091 Orphanet:377788 disease +MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia MONDO:0000001 Orphanet:597939 Orphanet:377788 disease +MONDO:0036193 parkinsonism with polyneuropathy MONDO:0000001 Orphanet:611237 Orphanet:377788 disease +MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation MONDO:0000001 Orphanet:99710 Orphanet:377788 disease +MONDO:0041186 Rowell syndrome MONDO:0000001 Orphanet:658584 Orphanet:377788 disease +MONDO:0043257 pemphigus and fogo selvagem MONDO:0000001 Orphanet:636955 Orphanet:377788 disease +MONDO:0043317 amyopathic dermatomyositis MONDO:0016367 Orphanet:645617 Orphanet:221 dermatomyositis +MONDO:0043349 intravascular papillary endothelial hyperplasia MONDO:0000001 Orphanet:673525 Orphanet:377788 disease +MONDO:0043361 May-Thurner syndrome MONDO:0000001 Orphanet:675404 Orphanet:377788 disease +MONDO:0044067 candidiasis, invasive MONDO:0000001 Orphanet:636945 Orphanet:377788 disease +MONDO:0044202 episodic kinesigenic dyskinesia MONDO:0000001 Orphanet:98809 Orphanet:377788 disease +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0000001 Orphanet:646278 Orphanet:377788 disease +MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0000001 Orphanet:508523 Orphanet:377788 disease +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0000001 Orphanet:500545 Orphanet:377788 disease +MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MONDO:0000001 Orphanet:653767 Orphanet:377788 disease +MONDO:0044332 childhood-onset benign chorea with striatal involvement MONDO:0000001 Orphanet:494541 Orphanet:377788 disease +MONDO:0044355 isolated sternocostoclavicular hyperostosis MONDO:0000001 Orphanet:178311 Orphanet:377788 disease +MONDO:0044622 EMILIN-1-related connective tissue disease MONDO:0000001 Orphanet:485418 Orphanet:377788 disease +MONDO:0044624 pediatric collagenous gastritis MONDO:0000001 Orphanet:487809 Orphanet:377788 disease +MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation MONDO:0000001 Orphanet:487814 Orphanet:377788 disease +MONDO:0044626 female infertility due to oocyte meiotic arrest MONDO:0000001 Orphanet:488191 Orphanet:377788 disease +MONDO:0044627 acute macular neuroretinopathy MONDO:0000001 Orphanet:488239 Orphanet:377788 disease +MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis MONDO:0000001 Orphanet:494428 Orphanet:377788 disease +MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome MONDO:0000001 Orphanet:494444 Orphanet:377788 disease +MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement MONDO:0000001 Orphanet:494526 Orphanet:377788 disease +MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0000001 Orphanet:494547 Orphanet:377788 disease +MONDO:0044640 Charcot-Marie-Tooth disease type 2T MONDO:0000001 Orphanet:495274 Orphanet:377788 disease +MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy MONDO:0000001 Orphanet:495844 Orphanet:377788 disease +MONDO:0044645 familial monosomy 7 syndrome MONDO:0000001 Orphanet:495930 Orphanet:377788 disease +MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome MONDO:0000001 Orphanet:496686 Orphanet:377788 disease +MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome MONDO:0000001 Orphanet:496689 Orphanet:377788 disease +MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0000001 Orphanet:496756 Orphanet:377788 disease +MONDO:0044656 epidermolytic nevus MONDO:0000001 Orphanet:497737 Orphanet:377788 disease +MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0000001 Orphanet:497757 Orphanet:377788 disease +MONDO:0044660 menstrual cycle-dependent periodic fever MONDO:0000001 Orphanet:498251 Orphanet:377788 disease +MONDO:0044663 aquagenic palmoplantar keratoderma MONDO:0000001 Orphanet:498359 Orphanet:377788 disease +MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO:0000001 Orphanet:498693 Orphanet:377788 disease +MONDO:0044688 isolated optic neuritis MONDO:0000001 Orphanet:499096 Orphanet:377788 disease +MONDO:0044689 recurrent idiopathic neuroretinitis MONDO:0000001 Orphanet:499103 Orphanet:377788 disease +MONDO:0044690 optic perineuritis MONDO:0000001 Orphanet:499107 Orphanet:377788 disease +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0000001 Orphanet:500180 Orphanet:377788 disease +MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0000001 Orphanet:500478 Orphanet:377788 disease +MONDO:0044705 paranasal sinus squamous cell carcinoma MONDO:0000001 Orphanet:500464 Orphanet:377788 disease +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0000001 Orphanet:502423 Orphanet:377788 disease +MONDO:0044718 alkaline ceramidase 3 deficiency MONDO:0000001 Orphanet:502444 Orphanet:377788 disease +MONDO:0044719 erythema multiforme major MONDO:0000001 Orphanet:502499 Orphanet:377788 disease +MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0000001 Orphanet:504476 Orphanet:377788 disease +MONDO:0044721 severe combined immunodeficiency due to LAT deficiency MONDO:0000001 Orphanet:504523 Orphanet:377788 disease +MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0000001 Orphanet:505208 Orphanet:377788 disease +MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0000001 Orphanet:505216 Orphanet:377788 disease +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency MONDO:0000001 Orphanet:505227 Orphanet:377788 disease +MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0000001 Orphanet:505242 Orphanet:377788 disease +MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0000001 Orphanet:506112 Orphanet:377788 disease +MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0000001 Orphanet:506353 Orphanet:377788 disease +MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:0000001 Orphanet:512103 Orphanet:377788 disease +MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:0017266 Orphanet:512103 Orphanet:281103 keratinopathic ichthyosis +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0000001 Orphanet:86893 Orphanet:377788 disease +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0000001 Orphanet:529852 Orphanet:377788 disease +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0018531 Orphanet:529852 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0018918 Orphanet:529852 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract +MONDO:0044792 large congenital melanocytic nevus MONDO:0000001 Orphanet:626 Orphanet:377788 disease +MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0000001 Orphanet:623626 Orphanet:377788 disease +MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0000001 Orphanet:435934 Orphanet:377788 disease +MONDO:0054636 Skraban-Deardorff syndrome MONDO:0000001 Orphanet:513456 Orphanet:377788 disease +MONDO:0054680 epiphyseal dysplasia, multiple, 7 MONDO:0000001 Orphanet:647676 Orphanet:377788 disease +MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000001 Orphanet:457223 Orphanet:377788 disease +MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0000001 Orphanet:569290 Orphanet:377788 disease +MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0000001 Orphanet:536532 Orphanet:377788 disease +MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0000001 Orphanet:521414 Orphanet:377788 disease +MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0000001 Orphanet:527276 Orphanet:377788 disease +MONDO:0060507 retinal dystrophy with or without macular staphyloma MONDO:0000001 Orphanet:653709 Orphanet:377788 disease +MONDO:0060532 congenital heart defects and skeletal malformations syndrome MONDO:0000001 Orphanet:643503 Orphanet:377788 disease +MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0000001 Orphanet:656130 Orphanet:377788 disease +MONDO:0060564 HELIX syndrome MONDO:0000001 Orphanet:528105 Orphanet:377788 disease +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0000001 Orphanet:572798 Orphanet:377788 disease +MONDO:0060582 auditory neuropathy-optic atrophy syndrome MONDO:0000001 Orphanet:542585 Orphanet:377788 disease +MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0000001 Orphanet:658813 Orphanet:377788 disease +MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language MONDO:0000001 Orphanet:647788 Orphanet:377788 disease +MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0000001 Orphanet:610569 Orphanet:377788 disease +MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0000001 Orphanet:597623 Orphanet:377788 disease +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0000001 Orphanet:662829 Orphanet:377788 disease +MONDO:0100038 complex neurodevelopmental disorder MONDO:0000001 Orphanet:528084 Orphanet:377788 disease +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015161 Orphanet:994 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015168 Orphanet:994 Orphanet:1037 arthrogryposis multiplex congenita +MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0015929 Orphanet:994 Orphanet:182108 thoracic malformation +MONDO:0100115 acute flaccid myelitis MONDO:0000001 Orphanet:623801 Orphanet:377788 disease +MONDO:0100116 Middle East respiratory syndrome MONDO:0000001 Orphanet:576074 Orphanet:377788 disease +MONDO:0100130 adult acute respiratory distress syndrome MONDO:0000001 Orphanet:70578 Orphanet:377788 disease +MONDO:0100133 mitochondrial complex I deficiency MONDO:0000001 Orphanet:2609 Orphanet:377788 disease +MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0000001 Orphanet:99885 Orphanet:377788 disease +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0000001 Orphanet:220465 Orphanet:377788 disease +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0015892 Orphanet:220465 Orphanet:181393 growth hormone insensitivity syndrome +MONDO:0100212 IFAP syndrome MONDO:0000001 Orphanet:2273 Orphanet:377788 disease +MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0000001 Orphanet:178506 Orphanet:377788 disease +MONDO:0100234 paroxysmal familial ventricular fibrillation MONDO:0000001 Orphanet:228140 Orphanet:377788 disease +MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0000001 Orphanet:447 Orphanet:377788 disease +MONDO:0100255 adenosine kinase deficiency MONDO:0000001 Orphanet:289290 Orphanet:377788 disease +MONDO:0100255 adenosine kinase deficiency MONDO:0019222 Orphanet:289290 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism +MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0000001 Orphanet:33226 Orphanet:377788 disease +MONDO:0100289 Goldmann-Favre syndrome MONDO:0000001 Orphanet:53540 Orphanet:377788 disease +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0000001 Orphanet:3208 Orphanet:377788 disease +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0009637 Orphanet:3208 Orphanet:206966 inborn mitochondrial myopathy +MONDO:0100325 odontochondrodysplasia 1 MONDO:0016763 Orphanet:166272 Orphanet:254 spondylometaphyseal dysplasia +MONDO:0100326 Glanzmann thrombasthenia MONDO:0000001 Orphanet:849 Orphanet:377788 disease +MONDO:0100339 Friedreich ataxia MONDO:0000001 Orphanet:95 Orphanet:377788 disease +MONDO:0100349 COACH syndrome MONDO:0000001 Orphanet:1454 Orphanet:377788 disease +MONDO:0100350 neuronopathy, distal hereditary motor, type 5 MONDO:0000001 Orphanet:139536 Orphanet:377788 disease +MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0000001 Orphanet:69665 Orphanet:377788 disease +MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0000001 Orphanet:329211 Orphanet:377788 disease +MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0000001 Orphanet:251262 Orphanet:377788 disease +MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0005380 Orphanet:251262 Orphanet:399158 osteonecrosis +MONDO:0100466 butterfly-shaped pigment dystrophy MONDO:0000001 Orphanet:99001 Orphanet:377788 disease +MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0000001 Orphanet:85138 Orphanet:377788 disease +MONDO:0100491 generalized pustular psoriasis MONDO:0000001 Orphanet:247353 Orphanet:377788 disease +MONDO:0100508 salivary gland type cancer of the breast MONDO:0000001 Orphanet:213557 Orphanet:377788 disease +MONDO:0100552 ATTRV30M amyloidosis MONDO:0007100 Orphanet:85447 Orphanet:271861 familial amyloid neuropathy +MONDO:0100566 myoclonic epilepsy in infancy MONDO:0000001 Orphanet:86909 Orphanet:377788 disease +MONDO:0100567 hereditary angioedema with normal C1Inh MONDO:0000001 Orphanet:528647 Orphanet:377788 disease +MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0000001 Orphanet:98810 Orphanet:377788 disease +MONDO:0700275 prostate cancer, hereditary MONDO:0000001 Orphanet:1331 Orphanet:377788 disease +MONDO:0700282 POLR3-related leukodystrophy MONDO:0000001 Orphanet:289494 Orphanet:377788 disease +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0000001 Orphanet:661 Orphanet:377788 disease +MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0000001 Orphanet:313808 Orphanet:377788 disease +MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant MONDO:0000001 Orphanet:324588 Orphanet:377788 disease +MONDO:0800029 interstitial lung disease 2 MONDO:0000001 Orphanet:2032 Orphanet:377788 disease +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0000001 Orphanet:436252 Orphanet:377788 disease +MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0000001 Orphanet:404454 Orphanet:377788 disease +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0000001 Orphanet:674762 Orphanet:377788 disease +MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0000001 Orphanet:171706 Orphanet:377788 disease +MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency MONDO:0000001 Orphanet:220443 Orphanet:377788 disease +MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0000001 Orphanet:135 Orphanet:377788 disease +MONDO:0800449 lysosomal acid lipase deficiency MONDO:0000001 Orphanet:275761 Orphanet:377788 disease +MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0000001 Orphanet:3319 Orphanet:377788 disease +MONDO:0800453 juvenile absence epilepsy MONDO:0000001 Orphanet:1941 Orphanet:377788 disease +MONDO:0800478 trigeminal trophic syndrome MONDO:0000001 Orphanet:664901 Orphanet:377788 disease +MONDO:0850013 twin anemia-polycythemia sequence MONDO:0000001 Orphanet:617294 Orphanet:377788 disease +MONDO:0850014 twin-reversed arterial perfusion sequence MONDO:0000001 Orphanet:617297 Orphanet:377788 disease +MONDO:0850015 selective intrauterine growth restriction MONDO:0000001 Orphanet:617301 Orphanet:377788 disease +MONDO:0850046 amniotic fluid embolism MONDO:0000001 Orphanet:617304 Orphanet:377788 disease +MONDO:0850048 classic eosinophilic pustular folliculitis MONDO:0000001 Orphanet:617408 Orphanet:377788 disease +MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome MONDO:0000001 Orphanet:617449 Orphanet:377788 disease +MONDO:0850053 F12-associated cold autoinflammatory syndrome MONDO:0000001 Orphanet:617919 Orphanet:377788 disease +MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0000001 Orphanet:618891 Orphanet:377788 disease +MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0000001 Orphanet:619233 Orphanet:377788 disease +MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0000001 Orphanet:619363 Orphanet:377788 disease +MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0000001 Orphanet:619367 Orphanet:377788 disease +MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0000001 Orphanet:619941 Orphanet:377788 disease +MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0000001 Orphanet:619948 Orphanet:377788 disease +MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0000001 Orphanet:619953 Orphanet:377788 disease +MONDO:0850070 CADINS disease MONDO:0000001 Orphanet:619972 Orphanet:377788 disease +MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0000001 Orphanet:619979 Orphanet:377788 disease +MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0000001 Orphanet:620363 Orphanet:377788 disease +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0000001 Orphanet:620368 Orphanet:377788 disease +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0015962 Orphanet:620368 Orphanet:183592 inherited renal tubular disease +MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0017765 Orphanet:620368 Orphanet:309848 disorder of magnesium transport +MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0000001 Orphanet:620371 Orphanet:377788 disease +MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0000001 Orphanet:621758 Orphanet:377788 disease +MONDO:0850097 autoimmune limbic encephalitis MONDO:0000001 Orphanet:623615 Orphanet:377788 disease +MONDO:0850100 body integrity dysphoria MONDO:0000001 Orphanet:623789 Orphanet:377788 disease +MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0000001 Orphanet:624166 Orphanet:377788 disease +MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0000001 Orphanet:624178 Orphanet:377788 disease +MONDO:0850104 paraneoplastic isolated brainstem encephalitis MONDO:0000001 Orphanet:624190 Orphanet:377788 disease +MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies MONDO:0000001 Orphanet:624199 Orphanet:377788 disease +MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies MONDO:0000001 Orphanet:624216 Orphanet:377788 disease +MONDO:0850107 postinfectious cerebellitis MONDO:0000001 Orphanet:624244 Orphanet:377788 disease +MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies MONDO:0000001 Orphanet:624259 Orphanet:377788 disease +MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies MONDO:0000001 Orphanet:624268 Orphanet:377788 disease +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma MONDO:0000001 Orphanet:667662 Orphanet:377788 disease +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma MONDO:0015760 Orphanet:667662 Orphanet:171918 T-cell non-Hodgkin lymphoma +MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:0000001 Orphanet:99704 Orphanet:377788 disease +MONDO:0858997 cancer of unknown primary site MONDO:0000001 Orphanet:631251 Orphanet:377788 disease +MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0000001 Orphanet:633004 Orphanet:377788 disease +MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0000001 Orphanet:633014 Orphanet:377788 disease +MONDO:0859001 CPE-related Prader-Willi-like syndrome MONDO:0000001 Orphanet:633028 Orphanet:377788 disease +MONDO:0859004 invasive scopulariopsis infection MONDO:0000001 Orphanet:633124 Orphanet:377788 disease +MONDO:0859007 mosaic Legius syndrome MONDO:0000001 Orphanet:634511 Orphanet:377788 disease +MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects MONDO:0000001 Orphanet:641361 Orphanet:377788 disease +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0000001 Orphanet:660017 Orphanet:377788 disease +MONDO:0859267 tumor predisposition syndrome 2 MONDO:0000001 Orphanet:661526 Orphanet:377788 disease +MONDO:0859340 spinocerebellar ataxia 27B, late-onset MONDO:0000001 Orphanet:675216 Orphanet:377788 disease +MONDO:0859763 mosaic neurofibromatosis type 1 MONDO:0000001 Orphanet:634461 Orphanet:377788 disease +MONDO:0859764 mosaic NF2-related schwannomatosis MONDO:0000001 Orphanet:634475 Orphanet:377788 disease +MONDO:0859765 mosaic schwannomatosis MONDO:0000001 Orphanet:634492 Orphanet:377788 disease +MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 MONDO:0000001 Orphanet:653725 Orphanet:377788 disease +MONDO:0957421 borna virus encephalitis MONDO:0000001 Orphanet:637051 Orphanet:377788 disease +MONDO:0957423 immunotherapy induced hypophysitis MONDO:0000001 Orphanet:641350 Orphanet:377788 disease +MONDO:0957426 autosomal recessive hyper-IgE syndrome MONDO:0000001 Orphanet:641368 Orphanet:377788 disease +MONDO:0957430 childhood-onset schizophrenia MONDO:0000001 Orphanet:641496 Orphanet:377788 disease +MONDO:0957433 primary pulmonary vein stenosis MONDO:0000001 Orphanet:642071 Orphanet:377788 disease +MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency MONDO:0000001 Orphanet:642954 Orphanet:377788 disease +MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency MONDO:0000001 Orphanet:642965 Orphanet:377788 disease +MONDO:0957452 segmental arterial mediolysis MONDO:0000001 Orphanet:645350 Orphanet:377788 disease +MONDO:0957460 spontaneous intestinal perforation MONDO:0000001 Orphanet:645793 Orphanet:377788 disease +MONDO:0957461 primary tuberculous lymphadenitis MONDO:0000001 Orphanet:645807 Orphanet:377788 disease +MONDO:0957462 primary pulmonary tuberculosis MONDO:0000001 Orphanet:645814 Orphanet:377788 disease +MONDO:0957462 primary pulmonary tuberculosis MONDO:0018076 Orphanet:645814 Orphanet:3389 tuberculosis +MONDO:0957463 primary bone and joint tuberculosis MONDO:0000001 Orphanet:645822 Orphanet:377788 disease +MONDO:0957464 primary cutaneous tuberculosis MONDO:0000001 Orphanet:645849 Orphanet:377788 disease +MONDO:0957464 primary cutaneous tuberculosis MONDO:0018076 Orphanet:645849 Orphanet:3389 tuberculosis +MONDO:0957465 multifocal tuberculosis MONDO:0000001 Orphanet:645854 Orphanet:377788 disease +MONDO:0957466 primary tuberculosis of the digestive system MONDO:0000001 Orphanet:645859 Orphanet:377788 disease +MONDO:0957467 primary genito-urinary tuberculosis MONDO:0000001 Orphanet:645874 Orphanet:377788 disease +MONDO:0957467 primary genito-urinary tuberculosis MONDO:0018076 Orphanet:645874 Orphanet:3389 tuberculosis +MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome MONDO:0000001 Orphanet:647799 Orphanet:377788 disease +MONDO:0957481 idiopathic pregnancy-associated osteoporosis MONDO:0000001 Orphanet:647823 Orphanet:377788 disease +MONDO:0957487 idiopathic catatonia MONDO:0000001 Orphanet:648919 Orphanet:377788 disease +MONDO:0958085 digenic hemochromatosis MONDO:0000001 Orphanet:648581 Orphanet:377788 disease +MONDO:0958091 cleft palate-congenital heart defect-intellectual disability syndrome MONDO:0000001 Orphanet:652519 Orphanet:377788 disease +MONDO:0958094 adult-onset progressive leukoencephalopathy-early-onset deafness MONDO:0000001 Orphanet:652532 Orphanet:377788 disease +MONDO:0958095 Nodal T-follicular helper cell lymphoma, follicular type MONDO:0000001 Orphanet:652650 Orphanet:377788 disease +MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma MONDO:0000001 Orphanet:652658 Orphanet:377788 disease +MONDO:0958099 idiopathic subglottic stenosis MONDO:0000001 Orphanet:652681 Orphanet:377788 disease +MONDO:0958101 lymphocytic mastitis MONDO:0000001 Orphanet:653698 Orphanet:377788 disease +MONDO:0958106 congenital insensitivity to pain syndrome, Marsili type MONDO:0000001 Orphanet:653728 Orphanet:377788 disease +MONDO:0958110 atrophic papulosis MONDO:0000001 Orphanet:656071 Orphanet:377788 disease +MONDO:0958115 autosomal recessive combined immunodeficiency due to complete IL6ST deficiency MONDO:0000001 Orphanet:656283 Orphanet:377788 disease +MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency MONDO:0000001 Orphanet:656300 Orphanet:377788 disease +MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency MONDO:0000001 Orphanet:656313 Orphanet:377788 disease +MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency MONDO:0000001 Orphanet:656326 Orphanet:377788 disease +MONDO:0958119 embryonal tumor with multilayered rosettes MONDO:0000001 Orphanet:656417 Orphanet:377788 disease +MONDO:0958120 autosomal dominant combined immunodeficiency due to ERBIN deficiency MONDO:0000001 Orphanet:656912 Orphanet:377788 disease +MONDO:0958122 idiopathic small fibers neuropathy MONDO:0000001 Orphanet:658549 Orphanet:377788 disease +MONDO:0958127 transplant-related bronchiolitis obliterans MONDO:0000001 Orphanet:658602 Orphanet:377788 disease +MONDO:0958128 non-transplant-related bronchiolitis obliterans MONDO:0000001 Orphanet:658612 Orphanet:377788 disease +MONDO:0958129 COQ7-related distal hereditary motor neuropathy MONDO:0000001 Orphanet:658778 Orphanet:377788 disease +MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency MONDO:0000001 Orphanet:658946 Orphanet:377788 disease +MONDO:0958138 early-onset immune dysregulation due to DOCK11 complete deficiency MONDO:0000001 Orphanet:658951 Orphanet:377788 disease +MONDO:0958256 pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome MONDO:0000001 Orphanet:641385 Orphanet:377788 disease +MONDO:0958257 psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome MONDO:0000001 Orphanet:641390 Orphanet:377788 disease +MONDO:0958258 Cushing syndrome due to cortisol-producing adrenocortical adenoma MONDO:0000001 Orphanet:642788 Orphanet:377788 disease +MONDO:0958262 isolated primary pigmented nodular adrenocortical disease MONDO:0000001 Orphanet:647772 Orphanet:377788 disease +MONDO:0958263 isolated micronodular adrenocortical disease MONDO:0000001 Orphanet:647782 Orphanet:377788 disease +MONDO:0958264 infectious scleritis MONDO:0000001 Orphanet:648665 Orphanet:377788 disease +MONDO:0958265 idiopathic scleritis MONDO:0000001 Orphanet:648675 Orphanet:377788 disease +MONDO:0958266 immune-mediated scleritis MONDO:0000001 Orphanet:648681 Orphanet:377788 disease +MONDO:0958275 segmental spinal dysgenesis MONDO:0000001 Orphanet:656126 Orphanet:377788 disease +MONDO:0958343 PAPASH syndrome MONDO:0000001 Orphanet:641380 Orphanet:377788 disease +MONDO:0958353 intermediate collagen VI-related muscular dystrophy MONDO:0000001 Orphanet:646113 Orphanet:377788 disease +MONDO:0958354 genetic central precocious puberty in female MONDO:0000001 Orphanet:650077 Orphanet:377788 disease +MONDO:0958355 secondary central precocious puberty in female MONDO:0000001 Orphanet:650082 Orphanet:377788 disease +MONDO:0958356 primary central precocious puberty in male MONDO:0000001 Orphanet:650087 Orphanet:377788 disease +MONDO:0958357 secondary central precocious puberty in male MONDO:0000001 Orphanet:650092 Orphanet:377788 disease +MONDO:0971056 ocular surface squamous neoplasia MONDO:0000001 Orphanet:659744 Orphanet:377788 disease +MONDO:0971063 autosomal dominant dopa-responsive dystonia MONDO:0000001 Orphanet:98808 Orphanet:377788 disease +MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0000001 Orphanet:661412 Orphanet:377788 disease +MONDO:0971077 episodic memory defect leukoencephalopathy MONDO:0000001 Orphanet:662229 Orphanet:377788 disease +MONDO:0971105 neonatal renal venous thrombosis MONDO:0000001 Orphanet:664912 Orphanet:377788 disease +MONDO:0971111 intraoral basal cell carcinoma MONDO:0000001 Orphanet:667678 Orphanet:377788 disease +MONDO:0971123 isolated retinal racemose hemangioma MONDO:0000001 Orphanet:674924 Orphanet:377788 disease +MONDO:0971124 perifoveal exudative vascular anomalous complex MONDO:0000001 Orphanet:674930 Orphanet:377788 disease +MONDO:0971125 torpedo maculopathy MONDO:0000001 Orphanet:674935 Orphanet:377788 disease +MONDO:0971126 isolated angioid streaks MONDO:0000001 Orphanet:674943 Orphanet:377788 disease +MONDO:0971127 diffuse unilateral subacute neuroretinitis MONDO:0000001 Orphanet:674947 Orphanet:377788 disease +MONDO:0971128 multiple evanescent white dot syndrome MONDO:0000001 Orphanet:674953 Orphanet:377788 disease +MONDO:0971129 stellate multiform amelanotic choroidopathy MONDO:0000001 Orphanet:674958 Orphanet:377788 disease +MONDO:0971130 choroidal osteoma MONDO:0000001 Orphanet:674965 Orphanet:377788 disease +MONDO:0971131 bilateral diffuse uveal melanocytic proliferation disease MONDO:0000001 Orphanet:674968 Orphanet:377788 disease +MONDO:0971133 isolated segmental infantile hemangioma MONDO:0000001 Orphanet:675380 Orphanet:377788 disease +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0000001 Orphanet:675775 Orphanet:377788 disease +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0000001 Orphanet:675782 Orphanet:377788 disease +MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura MONDO:0000001 Orphanet:675822 Orphanet:377788 disease +MONDO:0971145 peritoneal mesothelioma in situ MONDO:0000001 Orphanet:676036 Orphanet:377788 disease +MONDO:0975752 littoral cell hemangioma of the spleen MONDO:0000001 Orphanet:673538 Orphanet:377788 disease +MONDO:0975753 papillary hemangioma MONDO:0000001 Orphanet:673543 Orphanet:377788 disease +MONDO:0975754 pseudomyogenic hemangioendothelioma MONDO:0000001 Orphanet:673556 Orphanet:377788 disease +MONDO:0975755 eccrine angiomatous hamartoma MONDO:0000001 Orphanet:673568 Orphanet:377788 disease +MONDO:0975756 reactive angioendotheliomatosis MONDO:0000001 Orphanet:673574 Orphanet:377788 disease +MONDO:0975757 anastomosing haemangioma MONDO:0000001 Orphanet:675359 Orphanet:377788 disease +MONDO:0975758 microvenular haemangioma MONDO:0000001 Orphanet:675369 Orphanet:377788 disease +MONDO:0975759 acquired elastotic haemangioma MONDO:0000001 Orphanet:675597 Orphanet:377788 disease +MONDO:1040033 congenital muscular dystrophy without intellectual disability MONDO:0000001 Orphanet:370980 Orphanet:377788 disease +MONDO:8000006 WHIM syndrome 1 MONDO:0000001 Orphanet:51636 Orphanet:377788 disease +MONDO:8000010 antiphospholipid syndrome MONDO:0000001 Orphanet:80 Orphanet:377788 disease +MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0000001 Orphanet:456312 Orphanet:377788 disease diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index 29128b89..aea105f8 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -1332,7 +1332,6 @@ MONDO:0002220 tooth hard tissue disease MONDO:0006999 DOID:214 DOID:1091 tooth d MONDO:0002221 urethral urothelial papilloma MONDO:0004177 DOID:2140 DOID:730 benign urethral neoplasm MONDO:0002222 urethra leiomyoma MONDO:0001572 DOID:2142 DOID:127 leiomyoma MONDO:0002222 urethra leiomyoma MONDO:0004177 DOID:2142 DOID:730 benign urethral neoplasm -MONDO:0002223 ovarian malignant mesothelioma MONDO:0006292 DOID:2143 DOID:1790 malignant mesothelioma MONDO:0002223 ovarian malignant mesothelioma MONDO:0008170 DOID:2143 DOID:2394 ovarian cancer MONDO:0002224 malignant ovarian cyst MONDO:0008170 DOID:2145 DOID:2394 ovarian cancer MONDO:0002225 ovarian sarcoma MONDO:0008170 DOID:2146 DOID:2394 ovarian cancer @@ -2385,7 +2384,6 @@ MONDO:0003802 cornea cancer MONDO:0002236 DOID:6199 DOID:2174 ocular cancer MONDO:0003803 aortic valve disorder MONDO:0002869 DOID:62 DOID:4079 heart valve disorder MONDO:0003803 aortic valve disorder MONDO:0005561 DOID:62 DOID:520 aortic disorder MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 DOID:6201 DOID:116 pericardium cancer -MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 DOID:6201 DOID:1790 malignant mesothelioma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 DOID:6208 DOID:4050 mediastinum sarcoma MONDO:0003810 bladder diffuse clear cell adenocarcinoma MONDO:0003386 DOID:6210 DOID:5306 bladder clear cell adenocarcinoma MONDO:0003812 ovarian endometrial cancer MONDO:0002480 DOID:6212 DOID:3001 endometrioid tumor @@ -2544,7 +2542,6 @@ MONDO:0004026 skin tag MONDO:0006603 DOID:6873 DOID:2053 reactive cutaneous fibr MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 DOID:6880 DOID:5272 small intestinal sarcoma MONDO:0004028 small intestinal fibrosarcoma MONDO:0005164 DOID:6880 DOID:3355 fibrosarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 DOID:6888 DOID:4939 ureter carcinoma -MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 DOID:6898 DOID:4001 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 DOID:6903 DOID:2174 ocular cancer MONDO:0004034 eye lymphoma MONDO:0005062 DOID:6903 DOID:0060058 lymphoma MONDO:0004035 glomangiomatosis MONDO:0003342 DOID:6906 DOID:5238 benign perivascular tumor @@ -3312,7 +3309,6 @@ MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 DOID:3907 DOID:1749 squ MONDO:0005100 systemic sclerosis MONDO:0019340 DOID:418 DOID:419 scleroderma MONDO:0005101 ulcerative colitis MONDO:0005292 DOID:8577 DOID:0060180 colitis MONDO:0005108 viral infectious disease MONDO:0005550 DOID:934 DOID:0050117 infectious disease -MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 DOID:7474 DOID:1790 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 DOID:7474 DOID:5158 pleural cancer MONDO:0005113 bacterial infectious disease MONDO:0005550 DOID:104 DOID:0050117 infectious disease MONDO:0005116 Whipple disease MONDO:0005020 DOID:8476 DOID:5295 intestinal disorder @@ -3471,7 +3467,6 @@ MONDO:0005508 hereditary multiple osteochondromas MONDO:0002181 DOID:206 DOID:20 MONDO:0005510 hydronephrosis MONDO:0003330 DOID:11111 DOID:5200 urinary tract obstruction MONDO:0005511 janus kinase-3 deficiency MONDO:0015974 DOID:0060008 DOID:627 severe combined immunodeficiency MONDO:0005512 malignant peritoneal mesothelioma MONDO:0002087 DOID:1788 DOID:1725 peritoneum cancer -MONDO:0005512 malignant peritoneal mesothelioma MONDO:0006292 DOID:1788 DOID:1790 malignant mesothelioma MONDO:0005514 nanophthalmia MONDO:0021129 DOID:0080634 DOID:10629 microphthalmia MONDO:0005515 oral cavity cancer MONDO:0002516 DOID:8618 DOID:3119 digestive system cancer MONDO:0005516 osteochondrodysplasia MONDO:0005497 DOID:2256 DOID:0080006 bone development disease @@ -4537,6 +4532,7 @@ MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0004680 DOID:8924 DOID:8 MONDO:0008585 HELLP syndrome MONDO:0001641 DOID:13133 DOID:13129 severe pre-eclampsia MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 DOID:0111428 DOID:4990 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0000426 DOID:14743 DOID:0050736 autosomal dominant disease +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0000426 DOID:0080376 DOID:0050736 autosomal dominant disease MONDO:0008599 trigeminal neuralgia MONDO:0003543 DOID:12098 DOID:561 trigeminal nerve disorder MONDO:0008610 blue color blindness MONDO:0001703 DOID:11661 DOID:13399 color vision disorder MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 DOID:0080324 DOID:13515 tuberous sclerosis @@ -5561,6 +5557,7 @@ MONDO:0011945 Gaucher disease perinatal lethal MONDO:0018150 DOID:0110960 DOID:1 MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 DOID:0060272 DOID:0060264 pontocerebellar hypoplasia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 DOID:0111617 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 DOID:0070517 DOID:0070438 macular dystrophy, retinal +MONDO:0011959 sweet syndrome MONDO:0005093 DOID:0080746 DOID:37 skin disorder MONDO:0011960 schizophrenia 11 MONDO:0005090 DOID:0070087 DOID:5419 schizophrenia MONDO:0011962 endometrial cancer MONDO:0002715 DOID:1380 DOID:363 uterine cancer MONDO:0011963 Joubert syndrome 2 MONDO:0018772 DOID:0110988 DOID:0050777 Joubert syndrome @@ -7887,7 +7884,6 @@ MONDO:0100452 RPE65-related dominant retinopathy MONDO:0000426 DOID:0112144 DOID MONDO:0100459 azoospermia MONDO:0005372 DOID:14227 DOID:12336 male infertility MONDO:0100510 spondyloepimetaphyseal dysplasia MONDO:0005516 DOID:0080027 DOID:2256 osteochondrodysplasia MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0004947 DOID:0080649 DOID:0080630 B-cell acute lymphoblastic leukemia -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0005395 DOID:0070487 DOID:480 movement disorder MONDO:0700200 atypical dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070488 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 DOID:0081358 DOID:4603 epidermolytic ichthyosis @@ -10976,7 +10972,6 @@ MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 NCIT:C5336 NCIT:C5335 MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 NCIT:C4830 NCIT:C8993 ureter carcinoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0020654 NCIT:C4830 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0004032 ovarian seromucinous carcinoma MONDO:0003811 NCIT:C40090 NCIT:C4508 ovarian seromucinous tumor -MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C4908 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 NCIT:C35690 NCIT:C4767 ocular cancer MONDO:0004040 urinary bladder inverted papilloma MONDO:0021109 NCIT:C39859 NCIT:C6192 inverted urothelial papilloma MONDO:0004040 urinary bladder inverted papilloma MONDO:0044906 NCIT:C39859 NCIT:C39858 bladder urothelial papilloma @@ -12708,6 +12703,7 @@ MONDO:0021310 malignant tumor of neck MONDO:0021351 NCIT:C4940 NCIT:C3260 neopla MONDO:0021311 malignant tumor of parathyroid gland MONDO:0021360 NCIT:C9322 NCIT:C3313 tumor of parathyroid gland MONDO:0021312 malignant tumor of adrenal cortex MONDO:0002817 NCIT:C9327 NCIT:C9338 adrenal gland cancer MONDO:0021312 malignant tumor of adrenal cortex MONDO:0036591 NCIT:C9327 NCIT:C2858 adrenal cortex neoplasm +MONDO:0021313 eyelid cancer MONDO:0002235 NCIT:C6786 NCIT:C3031 eyelid neoplasm MONDO:0021313 eyelid cancer MONDO:0002236 NCIT:C6786 NCIT:C4767 ocular cancer MONDO:0021315 malignant tumor of nasopharynx MONDO:0005375 NCIT:C9321 NCIT:C3257 nasopharyngeal neoplasm MONDO:0021315 malignant tumor of nasopharynx MONDO:0005517 NCIT:C9321 NCIT:C7545 pharynx cancer @@ -13470,6 +13466,7 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 MONDO:0017896 OMIM:188550 OMIMPS:1 MONDO:0008582 tooth and nail syndrome MONDO:0019287 OMIM:189500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 OMIM:190300 OMIMPS:190300 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0017951 OMIM:190350 OMIMPS:190350 trichorhinophalangeal syndrome +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0017951 OMIM:190351 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0008603 trigonocephaly 1 MONDO:0018065 OMIM:190440 OMIMPS:190440 isolated trigonocephaly MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 OMIM:191100 OMIMPS:191100 tuberous sclerosis MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 OMIM:191390 OMIMPS:266600 inflammatory bowel disease @@ -13951,6 +13948,7 @@ MONDO:0010985 epilepsy, familial adult myoclonic, 1 MONDO:0000160 OMIM:601068 OM MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0019588 OMIM:601071 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0021944 OMIM:601071 OMIMPS:609129 auditory neuropathy MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 MONDO:0019588 OMIM:601072 OMIMPS:220290 hearing loss, autosomal recessive +MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 MONDO:0019180 OMIM:601101 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:0019037 OMIM:601104 OMIMPS:601104 progressive supranuclear palsy MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0005500 OMIM:601110 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011001 Brugada syndrome 1 MONDO:0015263 OMIM:601144 OMIMPS:601144 Brugada syndrome @@ -15241,7 +15239,6 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:0016349 OMIM:615219 OMIMPS:236600 congenital hydrocephalus MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 OMIM:615222 OMIMPS:607326 Smith-McCort dysplasia MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 OMIM:615224 OMIMPS:604348 advanced sleep phase syndrome -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 OMIM:615233 OMIMPS:268000 retinitis pigmentosa MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0000104 OMIM:615234 OMIMPS:206100 anemia, hypochromic microcytic with iron overload MONDO:0014095 dilated cardiomyopathy 1JJ MONDO:0016333 OMIM:615235 OMIMPS:115200 familial dilated cardiomyopathy @@ -16226,7 +16223,6 @@ MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0100223 MONDO:0030998 hearing loss, autosomal dominant 80 MONDO:0019587 OMIM:619274 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031400 OMIM:619951 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031003 hypercholanemia, familial, 2 MONDO:0100327 OMIM:619256 OMIMPS:607748 hypercholanemia, familial -MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0100326 OMIM:619267 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031169 OMIM:619269 OMIMPS:184260 odontochondrodysplasia MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 OMIM:619966 OMIMPS:303350 hereditary spastic paraplegia @@ -16726,7 +16722,6 @@ MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO: MONDO:0100436 cataract 2, multiple types MONDO:0005129 OMIM:604307 OMIMPS:116200 cataract MONDO:0100467 preeclampsia/eclampsia 1 MONDO:0005081 OMIM:189800 OMIMPS:189800 preeclampsia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 MONDO:0015855 OMIM:113700 OMIMPS:113700 isolated congenital breast hypoplasia/aplasia -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy MONDO:0700112 heterotaxy, visceral, 5, autosomal MONDO:0018677 OMIM:270100 OMIMPS:306955 visceral heterotaxy MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 OMIM:113800 OMIMPS:113800 epidermolytic ichthyosis MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 MONDO:0033885 OMIM:220110 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type @@ -16746,6 +16741,7 @@ MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 famil MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0009697 OMIM:620681 OMIMPS:254780 Lafora disease +MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 OMIM:616901 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair @@ -18385,7 +18381,6 @@ MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0015 MONDO:0010886 2q37 microdeletion syndrome MONDO:0016901 Orphanet:1001 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0019280 Orphanet:3387 Orphanet:79365 hypertrichosis MONDO:0010890 acrocardiofacial syndrome MONDO:0015159 Orphanet:2008 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy MONDO:0010907 familial hypertryptophanemia MONDO:0017350 Orphanet:2224 Orphanet:289829 inborn disorder of tryptophan metabolism MONDO:0010908 loose anagen syndrome MONDO:0004907 Orphanet:168 Orphanet:79364 alopecia MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:0015515 Orphanet:228305 Orphanet:157 carnitine palmitoyltransferase II deficiency @@ -19249,7 +19244,6 @@ MONDO:0014837 thrombocytopenia 6 MONDO:0018795 Orphanet:480851 Orphanet:477794 s MONDO:0014837 thrombocytopenia 6 MONDO:0020076 Orphanet:480851 Orphanet:98274 myeloproliferative neoplasm MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0018446 Orphanet:404493 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0015159 Orphanet:488642 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015653 Orphanet:488613 Orphanet:166472 monogenic epilepsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0017766 Orphanet:521406 Orphanet:309851 disorder of manganese transport MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0028226 Orphanet:420702 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0015929 Orphanet:464366 Orphanet:182108 thoracic malformation diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 46db03fe..2cf89639 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -1695,7 +1695,7 @@ MONDO:0002221 MONDO:0004041 True urethral urothelial papilloma urothelial papill MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002224 MONDO:0008170 True malignant ovarian cyst ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -3541,7 +3541,7 @@ MONDO:0003802 MONDO:0021238 True cornea cancer cornea neoplasm UNSUPPORTED-MISSI MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003803 MONDO:0005561 True aortic valve disorder aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003806 MONDO:0015074 True thyroid hyalinizing trabecular adenoma thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003808 MONDO:0002621 True mediastinal extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -3844,8 +3844,8 @@ MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma UNSU MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004030 MONDO:0020654 True ureter transitional cell carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004032 MONDO:0003811 True ovarian seromucinous carcinoma ovarian seromucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004032 MONDO:0005140 True ovarian seromucinous carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004032 MONDO:0005853 True ovarian seromucinous carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004032 MONDO:0018364 True ovarian seromucinous carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -5058,7 +5058,7 @@ MONDO:0005105 MONDO:0021143 True melanoma melanocytic neoplasm UNSUPPORTED-MISSI MONDO:0005106 MONDO:0044983 True lipoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005112 MONDO:0003308 True malignant pleural mesothelioma pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005115 MONDO:0017704 True temporal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5291,7 +5291,7 @@ MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm UNSUPPORTED-MISSING UNSUP MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005511 MONDO:0015974 True janus kinase-3 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005512 MONDO:0006362 True malignant peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005514 MONDO:0016764 True nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005514 MONDO:0021129 True nanophthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -7578,6 +7578,8 @@ MONDO:0008592 MONDO:0018230 True tricho-dento-osseous syndrome skeletal dysplasi MONDO:0008592 MONDO:0019287 True tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008596 MONDO:0000426 True trichorhinophalangeal syndrome type I autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008596 MONDO:0017951 True trichorhinophalangeal syndrome type I trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0008597 MONDO:0000426 True trichorhinophalangeal syndrome, type III autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0008597 MONDO:0017951 True trichorhinophalangeal syndrome, type III trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008598 MONDO:0019278 True trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008599 MONDO:0003543 True trigeminal neuralgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008599 MONDO:0016374 True trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8474,12 +8476,10 @@ MONDO:0009712 MONDO:0018948 True congenital multicore myopathy with external oph MONDO:0009713 MONDO:0001384 True myopia 18, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009717 MONDO:0016151 True Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009720 MONDO:0003847 True Keipert syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009720 MONDO:0015161 True Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009722 MONDO:0019952 True Bailey-Bloch congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009723 MONDO:0016387 True Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009723 MONDO:0020127 True Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009726 MONDO:0005046 True proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009726 MONDO:0006025 True proteosome-associated autoinflammatory syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009726 MONDO:0957408 True proteosome-associated autoinflammatory syndrome type 1 interferonopathy of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000389 True atelosteogenesis type II atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9054,7 +9054,6 @@ MONDO:0010422 MONDO:0004975 True Alzheimer disease 16 Alzheimer disease UNSUPPOR MONDO:0010423 MONDO:0005345 True hypospadias 2, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010424 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 4 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010425 MONDO:0000763 True Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010425 MONDO:0003847 True Lisch epithelial corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010425 MONDO:0020212 True Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010426 MONDO:0000766 True X-linked endothelial corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010426 MONDO:0020214 True X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9429,7 +9428,6 @@ MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 mat MONDO:0010895 MONDO:0006025 True ABCD syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010896 MONDO:0005328 True pigment dispersion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010897 MONDO:0005090 True schizophrenia 3 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010898 MONDO:0017704 True autosomal dominant epilepsy with auditory features familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010899 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 1 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010899 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9490,6 +9488,7 @@ MONDO:0010992 MONDO:0002254 True Ayme-Gripp syndrome syndromic disease UNSUPPORT MONDO:0010992 MONDO:0003847 True Ayme-Gripp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010993 MONDO:0015159 True Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010995 MONDO:0019011 True Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010996 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010997 MONDO:0019037 True supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010998 MONDO:0017740 True ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10166,6 +10165,7 @@ MONDO:0011952 MONDO:0005144 True amyotrophic lateral sclerosis type 7 familial a MONDO:0011953 MONDO:0000166 True familial acute necrotizing encephalopathy encephalopathy, acute, infection-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011954 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 4 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011957 MONDO:0031166 True retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011959 MONDO:0005093 True sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011960 MONDO:0005090 True schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011962 MONDO:0021251 True endometrial cancer endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11808,7 +11808,6 @@ MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014089 MONDO:0017666 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014089 MONDO:0020212 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014091 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 4B mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014094 MONDO:0000104 True severe congenital hypochromic anemia with ringed sideroblasts anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014094 MONDO:0016624 True severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11987,7 +11986,7 @@ MONDO:0014295 MONDO:0015150 True hereditary spastic paraplegia 57 complex heredi MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014298 MONDO:0015159 True chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014299 MONDO:0008075 True LZTR1-related schwannomatosis schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014299 MONDO:0008075 True schwannomatosis 2 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014300 MONDO:0005336 True proximal myopathy with extrapyramidal signs myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014302 MONDO:0015149 True hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014303 MONDO:0015150 True hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12492,7 +12491,6 @@ MONDO:0014848 MONDO:0015159 True TELO2-related intellectual disability-neurodeve MONDO:0014851 MONDO:0000212 True hypercalcemia, infantile, 2 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014855 MONDO:0015653 True intellectual disability, autosomal dominant 42 monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014858 MONDO:0015802 True intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -14805,7 +14803,6 @@ MONDO:0018576 MONDO:0016387 True non-progressive predominantly posterior cavitat MONDO:0018576 MONDO:0019046 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018576 MONDO:0020127 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018581 MONDO:0008491 True progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018582 MONDO:0003847 True GCGR-related hyperglucagonemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018586 MONDO:0019268 True zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018587 MONDO:0015923 True non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018588 MONDO:0019065 True ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16388,6 +16385,7 @@ MONDO:0021310 MONDO:0021351 True malignant tumor of neck neoplasm of neck UNSUPP MONDO:0021311 MONDO:0021360 True malignant tumor of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021312 MONDO:0002817 True malignant tumor of adrenal cortex adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021312 MONDO:0036591 True malignant tumor of adrenal cortex adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021313 MONDO:0002235 True eyelid cancer eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021313 MONDO:0002236 True eyelid cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021315 MONDO:0005375 True malignant tumor of nasopharynx nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021315 MONDO:0005517 True malignant tumor of nasopharynx pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16824,7 +16822,7 @@ MONDO:0024503 MONDO:0021223 True digestive system neuroendocrine neoplasm digest MONDO:0024506 MONDO:0007034 True Adams-Oliver syndrome 1 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024507 MONDO:0007119 True aniridia 1 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024517 MONDO:0008075 True SMARCB1-related schwannomatosis schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024517 MONDO:0008075 True schwannomatosis 1 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024519 MONDO:0018470 True renal hypodysplasia/aplasia 1 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024520 MONDO:0018470 True renal hypodysplasia/aplasia 3 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024521 MONDO:0007031 True aortic aneurysm, familial abdominal, 1 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17335,7 +17333,6 @@ MONDO:0030997 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear typ MONDO:0030998 MONDO:0019587 True hearing loss, autosomal dominant 80 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031000 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031003 MONDO:0100327 True hypercholanemia, familial, 2 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031008 MONDO:0002350 True nephrotic syndrome, type 24 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031009 MONDO:0100326 True Glanzmann thrombasthenia 2 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031010 MONDO:0031169 True odontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031012 MONDO:0000587 True autoimmune uveitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18249,7 +18246,6 @@ MONDO:0056820 MONDO:0005586 True nasal cavity and paranasal sinus neoplasm head MONDO:0060455 MONDO:0000425 True X-linked congenital hemolytic anemia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060455 MONDO:0003689 True X-linked congenital hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0060489 MONDO:0003847 True 46,XX sex reversal 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060489 MONDO:0100249 True 46,XX sex reversal 4 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060502 MONDO:0015159 True neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060533 MONDO:0003847 True microcephaly, short stature, and limb abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18395,7 +18391,6 @@ MONDO:0100567 MONDO:0019623 True hereditary angioedema with normal C1Inh heredit MONDO:0200000 MONDO:0003612 True uterine ligament adenosarcoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0700088 MONDO:0015427 True paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700090 MONDO:0005115 True epilepsy, familial temporal lobe, 1 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0700112 MONDO:0018677 True heterotaxy, visceral, 5, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0700117 MONDO:0005395 True SLC6A3-related dopamine transporter deficiency syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0700135 MONDO:0700134 True bovine leukemia bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18451,6 +18446,7 @@ MONDO:0800167 MONDO:0800166 True Knobloch syndrome 1 Knobloch syndrome UNSUPPORT MONDO:0800198 MONDO:0004907 True alopecia universalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800305 MONDO:0009692 True myelofibrosis with myeloid metaplasia primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800306 MONDO:0009697 True myoclonic epilepsy of Lafora 2 Lafora disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800341 MONDO:0019952 True congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800366 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800372 MONDO:0018772 True Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800436 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18708,7 +18704,7 @@ MONDO:0859564 MONDO:0859390 True epilepsy, X-linked 2, with or without impaired MONDO:0859565 MONDO:0020290 True atrioventricular septal defect familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859567 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859568 MONDO:0031166 True macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859569 MONDO:0031646 True Braddock-Carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859569 MONDO:0031646 True braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859570 MONDO:0031646 True braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859571 MONDO:0005711 True diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859572 MONDO:0031323 True cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19195,6 +19191,7 @@ MONDO:0000166 MONDO:0005560 False encephalopathy, acute, infection-induced brain MONDO:0000166 MONDO:0020683 False encephalopathy, acute, infection-induced acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0021669 False encephalopathy, acute, infection-induced post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0100545 False encephalopathy, acute, infection-induced hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000169 MONDO:0000062 False microphthalmia, isolated, with cataract isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0000062 False microphthalmia, isolated, with coloboma isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0001476 False microphthalmia, isolated, with coloboma coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000173 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type C muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20751,7 +20748,7 @@ MONDO:0004852 MONDO:0024295 False gonococcal keratitis skin disease caused by ba MONDO:0004853 MONDO:0004277 False gonococcal endophthalmia gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004854 MONDO:0015455 False ophthalmia neonatorum gonococcal conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004855 MONDO:0024876 False tenosynovitis tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004857 MONDO:0100010 False tendinitis disease of the tendon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004857 MONDO:0100010 False tendinitis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004860 MONDO:0044137 False vitreous disorder vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004862 MONDO:0005227 False vitreous abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004877 MONDO:0024277 False transient neonatal thrombocytopenia neonatal thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22031,7 +22028,6 @@ MONDO:0007066 MONDO:0003847 False adenosine triphosphatase deficiency, anemia du MONDO:0007067 MONDO:0016789 False pyruvate kinase hyperactivity pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007070 MONDO:0000652 False adiposis dolorosa integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007071 MONDO:0015129 False adrenocortical hypofunction, chronic primary congenital chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007072 MONDO:1040001 False ADULT syndrome TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007073 MONDO:0015160 False Hypoglossia-hypodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007073 MONDO:0019713 False Hypoglossia-hypodactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007074 MONDO:0005093 False ainhum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -22074,7 +22070,6 @@ MONDO:0007120 MONDO:0003847 False aniridia-absent patella syndrome hereditary di MONDO:0007121 MONDO:0003847 False aniridia, microcornea, and spontaneously Reabsorbed cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007122 MONDO:0003847 False anisocoria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007123 MONDO:0002254 False ankyloblepharon filiforme adnatum-cleft palate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007124 MONDO:1040001 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007125 MONDO:0003847 False ankyloglossia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0002185 False diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0003847 False diffuse idiopathic skeletal hyperostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -22260,7 +22255,6 @@ MONDO:0007345 MONDO:0005561 False aorta coarctation aortic disorder UNSUPPORTED- MONDO:0007346 MONDO:0000426 False cochleosaccular degeneration-cataract syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007346 MONDO:0002254 False cochleosaccular degeneration-cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007350 MONDO:0001476 False coloboma, ocular, autosomal dominant coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007350 MONDO:0003847 False coloboma, ocular, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0001476 False coloboma of macula coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0020242 False coloboma of macula hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007353 MONDO:0020242 False coloboma of macula-brachydactyly type B syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22304,7 +22298,6 @@ MONDO:0007403 MONDO:0005395 False inherited Creutzfeldt-Jakob disease movement d MONDO:0007406 MONDO:0003847 False cryofibrinogenemia, familial primary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007406 MONDO:0022904 False cryofibrinogenemia, familial primary cryofibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007408 MONDO:0003847 False cryptotia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007410 MONDO:0003847 False isolated cryptophthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007414 MONDO:0003157 False Gorham-Stout disease disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0005554 False Gorham-Stout disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007416 MONDO:0005334 False Balkan nephropathy hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22391,7 +22384,6 @@ MONDO:0007505 MONDO:0003847 False earring holes, natural hereditary disease UNSU MONDO:0007507 MONDO:0100118 False absence of fingerprints-congenital milia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007508 MONDO:0004747 False Rapp-Hodgkin syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007508 MONDO:0016064 False Rapp-Hodgkin syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007508 MONDO:1040001 False Rapp-Hodgkin syndrome TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007509 MONDO:0015884 False ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant autosomal dominant hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007512 MONDO:0003847 False ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007513 MONDO:0003847 False ectodermal dysplasia with adrenal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22427,7 +22419,6 @@ MONDO:0007546 MONDO:0023603 False myeloproliferative disorder, chronic, with eos MONDO:0007547 MONDO:0003847 False epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007553 MONDO:0003847 False epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007562 MONDO:0022800 False multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007564 MONDO:0100118 False pilomatrixoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007566 MONDO:0015356 False multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007569 MONDO:0003847 False erythema nodosum, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007570 MONDO:0005093 False erythema palmare hereditarium skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22691,7 +22682,6 @@ MONDO:0007906 MONDO:0021147 False familial partial lipodystrophy, Dunnigan type MONDO:0007907 MONDO:0006105 False lipoma of the conjunctiva benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0021630 False lipoma of the conjunctiva lipoma of face UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007908 MONDO:0000652 False multiple symmetric lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007908 MONDO:0023603 False multiple symmetric lipomatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007909 MONDO:0000652 False familial multiple lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007909 MONDO:0005106 False familial multiple lipomatosis lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007910 MONDO:0003847 False lipoprotein types--Lt system hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22770,7 +22760,7 @@ MONDO:0007992 MONDO:0005328 False microcornea-glaucoma-absent frontal sinuses sy MONDO:0007993 MONDO:0002254 False microgastria-limb reduction defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0015160 False microgastria-limb reduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007994 MONDO:0008547 False micromelic bone dysplasia with cloverleaf skull thanatophoric dysplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007995 MONDO:0000062 False microphthalmia, isolated, with cataract 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007995 MONDO:0000169 False microphthalmia, isolated, with cataract 1 microphthalmia, isolated, with cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007995 MONDO:0016764 False microphthalmia, isolated, with cataract 1 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007996 MONDO:0003847 False microphthalmia, isolated, with corectopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007997 MONDO:0003847 False microspherophakia with hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22834,11 +22824,11 @@ MONDO:0008066 MONDO:0003847 False nasal hyperpigmentation, familial transverse h MONDO:0008067 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008069 MONDO:0009723 False necrotizing encephalomyelopathy, subacute, of Leigh, adult Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008069 MONDO:0020683 False necrotizing encephalomyelopathy, subacute, of Leigh, adult acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015735 False congenital myopathy 2a, typical, autosomal dominant severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015736 False congenital myopathy 2a, typical, autosomal dominant intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015737 False congenital myopathy 2a, typical, autosomal dominant typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015738 False congenital myopathy 2a, typical, autosomal dominant childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0100084 False congenital myopathy 2a, typical, autosomal dominant alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015735 False nemaline myopathy 3 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015736 False nemaline myopathy 3 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015737 False nemaline myopathy 3 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015738 False nemaline myopathy 3 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0100084 False nemaline myopathy 3 alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008071 MONDO:0005240 False autosomal dominant progressive nephropathy with hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008073 MONDO:0019236 False familial juvenile hyperuricemic nephropathy type 1 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0002531 False schwannomatosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23145,6 +23135,7 @@ MONDO:0008424 MONDO:0003847 False sella turcica, bridged hereditary disease UNSU MONDO:0008427 MONDO:0003847 False sister chromatid exchange, frequency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008429 MONDO:0023603 False Singleton-Merten dysplasia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008430 MONDO:0003847 False skeletal dysplasia with delayed epiphyseal and carpal bone ossification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008433 MONDO:0003847 False small cell lung carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0000508 False Smith-Magenis syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0002320 False Smith-Magenis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0100545 False Smith-Magenis syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23186,8 +23177,6 @@ MONDO:0008487 MONDO:0003847 False polycystic ovary syndrome hereditary disease U MONDO:0008489 MONDO:0003847 False sternum, premature obliteration of sutures of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008491 MONDO:0002254 False stiff-person syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008492 MONDO:0100118 False stiff skin syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008493 MONDO:0003689 False overhydrated hereditary stomatocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008494 MONDO:0003689 False cryohydrocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008496 MONDO:0003847 False storm syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008498 MONDO:0020573 False strabismus, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008499 MONDO:0015160 False short stature-wormian bones-dextrocardia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23339,8 +23328,6 @@ MONDO:0008641 MONDO:0700256 False retinal vasculopathy with cerebral leukoenceph MONDO:0008641 MONDO:0957408 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations type 1 interferonopathy of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008643 MONDO:0003847 False veins, pattern of, on anterior thorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008644 MONDO:0018923 False velocardiofacial syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008644 MONDO:0100545 False velocardiofacial syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008644 MONDO:0100547 False velocardiofacial syndrome cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0005477 False ventricular tachycardia, familial ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0100547 False ventricular tachycardia, familial cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008649 MONDO:0003847 False venular insufficiency, systemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23625,7 +23612,6 @@ MONDO:0008986 MONDO:0003847 False circumvallate placenta syndrome hereditary dis MONDO:0008988 MONDO:0800153 False citrullinemia type I urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008989 MONDO:0003847 False citrulline transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008990 MONDO:0016060 False cleft larynx, posterior laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008992 MONDO:0003847 False Juberg-Hayward syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008993 MONDO:0021147 False cleft palate-stapes fixation-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008994 MONDO:0005516 False cleidocranial dysplasia, recessive form osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008999 MONDO:0000508 False Cohen syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23998,6 +23984,7 @@ MONDO:0009450 MONDO:0016575 False ciliary dyskinesia with excessively long cilia MONDO:0009452 MONDO:0005046 False Vici syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009453 MONDO:0003847 False immune deficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009453 MONDO:0005046 False immune deficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009455 MONDO:0003847 False immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009456 MONDO:0009973 False Immunoerythromyeloid hypoplasia reticular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009457 MONDO:0003847 False immunoglobulin d level in plasma, low hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009458 MONDO:0016761 False Schimke immuno-osseous dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -24222,11 +24209,12 @@ MONDO:0009719 MONDO:0100547 False familial atrial myxoma cardiogenetic disease U MONDO:0009721 MONDO:0002254 False Nathalie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009722 MONDO:0002320 False Bailey-Bloch congenital myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009722 MONDO:0100545 False Bailey-Bloch congenital myopathy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009724 MONDO:0100191 False nail-patella-like renal disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009724 MONDO:0005240 False nail-patella-like renal disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015735 False nemaline myopathy 2 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015736 False nemaline myopathy 2 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015737 False nemaline myopathy 2 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015738 False nemaline myopathy 2 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009726 MONDO:0005046 False proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009726 MONDO:0023603 False proteosome-associated autoinflammatory syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000226 False atelosteogenesis type II mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0019052 False atelosteogenesis type II inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24767,7 +24755,6 @@ MONDO:0010483 MONDO:0020119 False X-linked intellectual disability, Cantagrel ty MONDO:0010490 MONDO:0015327 False SSR4-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0000425 False X-linked acrogigantism due to Xq26 microduplication X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0017010 False X-linked acrogigantism due to Xq26 microduplication partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010494 MONDO:1040023 False linear skin defects with multiple congenital anomalies 3 NDUFB11-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010496 MONDO:0002320 False X-linked intellectual disability-short stature-overweight syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010497 MONDO:0019181 False intellectual disability, X-linked 102 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010501 MONDO:0002320 False syndromic X-linked intellectual disability 34 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25075,6 +25062,7 @@ MONDO:0010889 MONDO:0005385 False arterial dissection-lentiginosis syndrome vasc MONDO:0010891 MONDO:0002254 False lethal hemolytic anemia-genital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0003664 False lethal hemolytic anemia-genital anomalies syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010896 MONDO:0003847 False pigment dispersion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010898 MONDO:0005115 False autosomal dominant epilepsy with auditory features temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010900 MONDO:0019342 False intrauterine growth retardation with increased mitomycin c sensitivity Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010901 MONDO:0002254 False HEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010902 MONDO:0016761 False spondyloepiphyseal dysplasia, Reardon type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25141,7 +25129,6 @@ MONDO:0010983 MONDO:0017706 False dystonia 9 disorder of carbohydrate transmembr MONDO:0010988 MONDO:0007145 False aplasia cutis-myopia syndrome aplasia cutis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010991 MONDO:0018677 False laterality defects, autosomal dominant visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010992 MONDO:0015159 False Ayme-Gripp syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010996 MONDO:0019180 False hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011000 MONDO:0003847 False guanylate cyclase 2E hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6A motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6A hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25453,7 +25440,6 @@ MONDO:0011422 MONDO:0019052 False autosomal recessive proximal renal tubular aci MONDO:0011424 MONDO:0021058 False Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011426 MONDO:0004884 False aceruloplasminemia eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011427 MONDO:0020573 False Ascaris lumbricoides infection, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011428 MONDO:1040001 False ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011429 MONDO:0005554 False juvenile idiopathic arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011429 MONDO:0700007 False juvenile idiopathic arthritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0016663 False MASS syndrome overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25507,7 +25493,6 @@ MONDO:0011501 MONDO:0003847 False wormian bone-multiple fractures-dentinogenesis MONDO:0011504 MONDO:0015660 False NDE1-related microhydranencephaly sporadic fetal brain disruption sequence UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011504 MONDO:0700116 False NDE1-related microhydranencephaly microcephaly with lissencephaly and/or hydranencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011506 MONDO:0016022 False familial infantile myoclonic epilepsy early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011506 MONDO:0100545 False familial infantile myoclonic epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011507 MONDO:0003847 False diabetes mellitus, congenital autoimmune hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011508 MONDO:0018908 False lymphoma, non-Hodgkin, familial non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011509 MONDO:0003847 False low density lipoprotein cholesterol, mild elevation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25531,7 +25516,6 @@ MONDO:0011530 MONDO:0023599 False mesomelic dysplasia, Savarirayan type mesomeli MONDO:0011533 MONDO:0005172 False temtamy preaxial brachydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011534 MONDO:0002316 False Charcot-Marie-Tooth disease type 4G motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011534 MONDO:0017688 False Charcot-Marie-Tooth disease type 4G disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011535 MONDO:1040001 False split hand-foot malformation 4 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011537 MONDO:0021147 False macrocephaly-autism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011538 MONDO:0003847 False frontoocular syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011542 MONDO:0100171 False psoriasis 6, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25568,9 +25552,7 @@ MONDO:0011600 MONDO:1040021 False congenital myasthenic syndrome 4A congenital m MONDO:0011603 MONDO:0007827 False GNE myopathy inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011603 MONDO:0009332 False GNE myopathy congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0020247 False spondylo-ocular syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011604 MONDO:0023603 False spondylo-ocular syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0800064 False spondylo-ocular syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011604 MONDO:1040022 False spondylo-ocular syndrome linkeropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011605 MONDO:0100118 False generalized basaloid follicular hamartoma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011606 MONDO:0007037 False baby rattle pelvis dysplasia Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011607 MONDO:0100049 False narcolepsy 2, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25646,7 +25628,6 @@ MONDO:0011715 MONDO:0800063 False Seckel syndrome 2 primordial dwarfism and slen MONDO:0011716 MONDO:0003337 False acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011717 MONDO:0800153 False hyperinsulinism-hyperammonemia syndrome urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011719 MONDO:0003847 False gastrointestinal stromal tumor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011723 MONDO:0003847 False hemifacial myohyperplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011723 MONDO:0019716 False hemifacial myohyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011726 MONDO:0003847 False peripheral arterial occlusive disease 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011727 MONDO:0020573 False anorexia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25751,6 +25732,7 @@ MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndr MONDO:0011887 MONDO:0003847 False cataract, congenital, with mental impairment and dentate gyrus atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011892 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011893 MONDO:0019587 False autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011895 MONDO:0005110 False idiopathic hypereosinophilic syndrome idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011896 MONDO:0020573 False Parkinson disease 11, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25761,6 +25743,7 @@ MONDO:0011899 MONDO:0015160 False Noonan syndrome-like disorder with loose anage MONDO:0011900 MONDO:0019212 False porokeratosis 4, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011903 MONDO:0011909 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011908 MONDO:0020311 False juvenile myelomonocytic leukemia chronic myelomonocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011908 MONDO:0023603 False juvenile myelomonocytic leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011913 MONDO:0015140 False Alzheimer disease 3 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -25798,11 +25781,8 @@ MONDO:0011957 MONDO:1040053 False retinal macular dystrophy type 2 PROM1-related MONDO:0011958 MONDO:0003847 False bile and pancreatic ducts, complete absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011959 MONDO:0002254 False sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011959 MONDO:0005554 False sweet syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011959 MONDO:0023603 False sweet syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011959 MONDO:0100118 False sweet syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011961 MONDO:0018213 False hereditary sensory and autonomic neuropathy type 1B hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011963 MONDO:0009480 False Joubert syndrome 2 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011970 MONDO:0100545 False rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011972 MONDO:0003847 False ovarian hyperstimulation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011973 MONDO:0003847 False zinc deficiency, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011974 MONDO:1040055 False retinitis pigmentosa 7 PRPH2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25971,7 +25951,6 @@ MONDO:0012240 MONDO:0015738 False congenital myopathy 23 childhood-onset nemalin MONDO:0012240 MONDO:0100196 False congenital myopathy 23 TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012241 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012242 MONDO:0003847 False syncope, familial vasovagal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012243 MONDO:0002254 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012243 MONDO:0003847 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012244 MONDO:0700275 False prostate cancer, hereditary, 5 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012245 MONDO:0016022 False developmental and epileptic encephalopathy, 3 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -26514,7 +26493,6 @@ MONDO:0013121 MONDO:0000365 False glaucoma 3, primary congenital, C primary cong MONDO:0013122 MONDO:0000365 False glaucoma 3, primary congenital, D primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0100236 False glaucoma 3, primary congenital, D LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013124 MONDO:0020573 False pelvic organ prolapse, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013125 MONDO:0003847 False CLAPO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013129 MONDO:0000455 False cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013129 MONDO:1040028 False cone dystrophy 4 PDE6C-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013130 MONDO:0016764 False isolated microphthalmia 4 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26698,7 +26676,6 @@ MONDO:0013463 MONDO:0000119 False congenital heart defects, multiple types, 6 co MONDO:0013463 MONDO:0019443 False congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013465 MONDO:0800392 False achromatopsia 4 GNAT2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013468 MONDO:0002320 False retinitis pigmentosa 59 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0013468 MONDO:1010097 False retinitis pigmentosa 59 DHDDS-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013468 MONDO:1040054 False retinitis pigmentosa 59 DHDDS-CDG UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013469 MONDO:0800394 False retinitis pigmentosa 38 MERTK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013473 MONDO:0003847 False Hirschsprung disease, cardiac defects, and autonomic dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27019,6 +26996,7 @@ MONDO:0014083 MONDO:0011096 False agammaglobulinemia 7, autosomal recessive auto MONDO:0014086 MONDO:0800064 False osteogenesis imperfecta type 15 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014090 MONDO:0019673 False polydactyly, postaxial, type A6 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014091 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4B mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014091 MONDO:0020727 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4B combined oxidative phosphorylation deficiency 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014092 MONDO:0100182 False schizophrenia 18 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014094 MONDO:0000577 False severe congenital hypochromic anemia with ringed sideroblasts congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014096 MONDO:0015159 False microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27065,6 +27043,7 @@ MONDO:0014196 MONDO:0002254 False Hartsfield-Bixler-Demyer syndrome syndromic di MONDO:0014196 MONDO:0018230 False Hartsfield-Bixler-Demyer syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014201 MONDO:0002320 False developmental and epileptic encephalopathy, 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014201 MONDO:0015159 False developmental and epileptic encephalopathy, 18 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014201 MONDO:0020071 False developmental and epileptic encephalopathy, 18 infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014204 MONDO:0700007 False basal ganglia calcification, idiopathic, 5 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014206 MONDO:0012580 False severe early-onset pulmonary alveolar proteinosis due to MARS deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014210 MONDO:0000508 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27138,8 +27117,6 @@ MONDO:0014333 MONDO:0100545 False polymicrogyria, bilateral perisylvian, autosom MONDO:0014335 MONDO:0002254 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014335 MONDO:0024237 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014342 MONDO:0021124 False female infertility due to zona pellucida defect female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014343 MONDO:0023603 False Desbuquois dysplasia 2 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014343 MONDO:1040022 False Desbuquois dysplasia 2 linkeropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0000119 False congenital heart defects, multiple types, 4 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0020290 False congenital heart defects, multiple types, 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014345 MONDO:0700232 False retinitis pigmentosa 69 KIZ-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27633,7 +27610,6 @@ MONDO:0015228 MONDO:0700085 False pentasomy X pentasomy UNSUPPORTED-MISSING UNSU MONDO:0015230 MONDO:0002254 False anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015231 MONDO:0002254 False Bartter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015232 MONDO:0003847 False radial deficiency-tibial hypoplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015235 MONDO:0002254 False arachnodactyly-intellectual disability-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015235 MONDO:0015160 False arachnodactyly-intellectual disability-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015236 MONDO:0022606 False aortic arch defects branchial arch disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015237 MONDO:0024623 False arrhinia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27988,6 +27964,7 @@ MONDO:0015962 MONDO:0100191 False inherited renal tubular disease inherited kidn MONDO:0015967 MONDO:0005015 False monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015967 MONDO:0019052 False monogenic diabetes inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015978 MONDO:0004805 False functional neutrophil defect leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015985 MONDO:0018230 False bone dysplasia, Azouz type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015987 MONDO:0002254 False scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015987 MONDO:0017705 False scimitar syndrome congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015988 MONDO:0002473 False multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28300,7 +28277,6 @@ MONDO:0016558 MONDO:0100545 False familial congenital mirror movements hereditar MONDO:0016559 MONDO:0009633 False glaucoma secondary to spherophakia/ectopia lentis and megalocornea microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016568 MONDO:0002254 False Lowe-Kohn-Cohen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016568 MONDO:0021147 False Lowe-Kohn-Cohen syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016571 MONDO:0002254 False macrocephaly-short stature-paraplegia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016571 MONDO:0002320 False macrocephaly-short stature-paraplegia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0020683 False acute fatty liver of pregnancy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0024575 False acute fatty liver of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28715,7 +28691,6 @@ MONDO:0017449 MONDO:0018234 False split hand dysostosis UNSUPPORTED-MISSING UNSU MONDO:0017450 MONDO:0018234 False split foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017452 MONDO:0017424 False non-syndromic brachydactyly of toes non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017453 MONDO:0025371 False fetal parvovirus syndrome Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017454 MONDO:0003847 False triphalangeal thumb-polysyndactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017454 MONDO:0019054 False triphalangeal thumb-polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017461 MONDO:0021147 False familial isolated clinodactyly of fingers disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017467 MONDO:0001411 False tibio-fibular synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29328,8 +29303,7 @@ MONDO:0018696 MONDO:0015547 False corticobasal syndrome hereditary dementia UNSU MONDO:0018696 MONDO:0024237 False corticobasal syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0003847 False hereditary neuroendocrine tumor of small intestine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0018510 False hereditary neuroendocrine tumor of small intestine small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018702 MONDO:0017979 False Castleman-Kojima disease autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018702 MONDO:0035838 False Castleman-Kojima disease idiopathic multicentric Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018702 MONDO:0007179 False Castleman-Kojima disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018703 MONDO:0021147 False isolated splenogonadal fusion disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018709 MONDO:0020119 False X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018710 MONDO:0014863 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome macrocephaly, dysmorphic facies, and psychomotor retardation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30650,7 +30624,6 @@ MONDO:0021301 MONDO:0000652 False adenoma of nipple integumentary system benign MONDO:0021301 MONDO:0002058 False adenoma of nipple breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021311 MONDO:0021069 False malignant tumor of parathyroid gland malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021313 MONDO:0002898 False eyelid cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021313 MONDO:0020172 False eyelid cancer palpebral epidermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021316 MONDO:0004727 False malignant tumor of minor salivary gland vestibule of mouth cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021320 MONDO:0002516 False malignant tumor of floor of mouth digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021321 MONDO:0003059 False malignant tumor of extrahepatic bile duct bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31458,7 +31431,7 @@ MONDO:0024626 MONDO:0024627 False defective phagocytic cell engulfment phagocyti MONDO:0024627 MONDO:0005046 False phagocytic cell dysfunction immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024630 MONDO:0024627 False defective phagocytic cell chemotaxis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024632 MONDO:0024627 False defective phagocytic cell opsonization phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024633 MONDO:0005240 False hypertensive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024633 MONDO:0100191 False hypertensive nephropathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024634 MONDO:0005020 False large intestine disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024635 MONDO:0005020 False small intestine disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0005267 False inflammation of heart layer heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31493,7 +31466,7 @@ MONDO:0024857 MONDO:0003578 False immature extragonadal teratoma extragonadal no MONDO:0024863 MONDO:0003927 False small size posterior uveal melanoma posterior uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024864 MONDO:0003927 False medium/large size posterior uveal melanoma posterior uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024868 MONDO:0004202 False metastatic carcinoma in the adrenal medulla adrenal medulla carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024876 MONDO:0100010 False tendon sheath disorder disease of the tendon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024876 MONDO:0100010 False tendon sheath disorder tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024877 MONDO:0021049 False clitoris neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024882 MONDO:0023370 False secondary neoplasm neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024883 MONDO:0024882 False metastatic neoplasm secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31514,14 +31487,16 @@ MONDO:0024934 MONDO:0005583 False fish disease non-human animal disease UNSUPPOR MONDO:0024935 MONDO:0024913 False foot rot cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024935 MONDO:0024985 False foot rot sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024935 MONDO:0024990 False foot rot swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024945 MONDO:1011311 False hepatitis, non-human animal digestive system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024945 MONDO:1011317 False hepatitis, non-human animal endocrine system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024945 MONDO:1011327 False hepatitis, non-human animal inflammatory disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024945 MONDO:1012967 False hepatitis, non-human animal liver disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024950 MONDO:0005583 False horse disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024953 MONDO:0005583 False lameness, non-human animal non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024954 MONDO:0005988 False larva migrans, visceral toxocariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024954 MONDO:0018500 False larva migrans, visceral cutaneous larva migrans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024965 MONDO:1010195 False muscular dystrophy, non-human animal myopathy, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024965 MONDO:1012972 False muscular dystrophy, non-human animal hereditary neurological disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024965 MONDO:1011321 False muscular dystrophy, non-human animal hereditary disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024965 MONDO:1011336 False muscular dystrophy, non-human animal nervous system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024969 MONDO:0700049 False parasitic disease, non-human animal infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024971 MONDO:0024913 False parturient paresis cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024971 MONDO:0024985 False parturient paresis sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31662,7 +31637,6 @@ MONDO:0025986 MONDO:0021189 False megacystis-microcolon-intestinal hypoperistals MONDO:0026045 MONDO:0005093 False prurigo nodularis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026404 MONDO:0100209 False X inactivation, familial skewed, 1 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026426 MONDO:0100209 False X inactivation, familial skewed, 2 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0026721 MONDO:1040023 False mitochondrial complex 1 deficiency, nuclear type 30 NDUFB11-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31733,14 +31707,12 @@ MONDO:0030334 MONDO:0800174 False encephalitis, acute, infection (viral)-induced MONDO:0030341 MONDO:0002320 False myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030362 MONDO:0700263 False Aicardi-Goutieres syndrome 9 RNU7-1-related type 1 interferonopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030434 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 18 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030473 MONDO:0700002 False developmental and epileptic encephalopathy 99 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030482 MONDO:1040012 False spastic paraplegia 84, autosomal recessive PI4KA-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030502 MONDO:0700064 False tetrasomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030602 MONDO:0030603 False Klebsiella pneumonia Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030603 MONDO:0005113 False Klebsiella infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030639 MONDO:0003847 False Teebi hypertelorism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030669 MONDO:1040012 False gastrointestinal defects and immunodeficiency syndrome 2 PI4KA-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030677 MONDO:0700277 False Charcot-Marie-Tooth disease, demyelinating, IIA 1I POLR3B-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030681 MONDO:0018037 False immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030700 MONDO:0002462 False autoimmune glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030701 MONDO:0000589 False autoimmune cardiomyopathy autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -31790,8 +31762,8 @@ MONDO:0030963 MONDO:0003847 False Li-Campeau syndrome hereditary disease UNSUPPO MONDO:0030966 MONDO:0003847 False neurofacioskeletal syndrome with or without renal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030967 MONDO:0003847 False deafness, congenital, and adult-onset progressive leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030976 MONDO:0003847 False oculomotor-abducens synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030978 MONDO:1040032 False ENDOVE syndrome, limb-only type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030979 MONDO:1040032 False ENDOVE syndrome, limb-brain type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030978 MONDO:1040032 False endove syndrome, limb-only type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030979 MONDO:1040032 False endove syndrome, limb-brain type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030981 MONDO:0015974 False immunodeficiency 79 severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030982 MONDO:0019052 False sulfide quinone oxidoreductase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030986 MONDO:0003847 False blistering, acantholytic, of oral and laryngeal mucosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31808,6 +31780,7 @@ MONDO:0031002 MONDO:0003847 False Baralle-Macken syndrome hereditary disease UNS MONDO:0031006 MONDO:0003847 False neurodegeneration with ataxia and late-onset optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031007 MONDO:0002320 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031007 MONDO:0800101 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0031008 MONDO:0005377 False nephrotic syndrome, type 24 nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031011 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and variable seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031012 MONDO:0020283 False autoimmune uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031013 MONDO:0000568 False autoimmune optic neuritis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -31929,7 +31902,6 @@ MONDO:0032811 MONDO:0002320 False night blindness, congenital stationary, type1i MONDO:0032811 MONDO:0100453 False night blindness, congenital stationary, type1i GUCY2D-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032814 MONDO:0011057 False microangiopathy and leukoencephalopathy, pontine, autosomal dominant cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032814 MONDO:0100545 False microangiopathy and leukoencephalopathy, pontine, autosomal dominant hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0032814 MONDO:0800461 False microangiopathy and leukoencephalopathy, pontine, autosomal dominant COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032816 MONDO:0100500 False neurodevelopmental disorder with ataxia, hypotonia, and microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032817 MONDO:0100500 False neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032818 MONDO:0100500 False neurodevelopmental disorder with cerebellar hypoplasia and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32069,8 +32041,6 @@ MONDO:0033938 MONDO:0020683 False acute radiation syndrome acute disease UNSUPPO MONDO:0033954 MONDO:0002254 False monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033954 MONDO:0100004 False monoclonal mast cell activation syndrome mast cell activation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033968 MONDO:0006025 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034021 MONDO:0023603 False spondylodysplastic Ehlers-Danlos syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0034021 MONDO:1040022 False spondylodysplastic Ehlers-Danlos syndrome linkeropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0002320 False congenital axonal neuropathy with encephalopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0004183 False congenital axonal neuropathy with encephalopathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034054 MONDO:0015974 False severe combined immunodeficiency due to CD70 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32664,7 +32634,7 @@ MONDO:0044315 MONDO:0020573 False craniosynostosis 7 inherited disease susceptib MONDO:0044316 MONDO:0003847 False thrombocytopenia, anemia, and myelofibrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044318 MONDO:0000508 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044318 MONDO:0002320 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044318 MONDO:0100500 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044318 MONDO:0700092 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0002320 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044321 MONDO:0003847 False structural heart defects and renal anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32672,8 +32642,7 @@ MONDO:0044321 MONDO:0015161 False structural heart defects and renal anomalies s MONDO:0044322 MONDO:0000508 False intellectual developmental disorder with neuropsychiatric features syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044323 MONDO:0002254 False Rahman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044324 MONDO:0000508 False Al Kaissi syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044326 MONDO:0100500 False developmental delay and seizures with or without movement abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044326 MONDO:1010097 False developmental delay and seizures with or without movement abnormalities DHDDS-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044326 MONDO:0700092 False developmental delay and seizures with or without movement abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044329 MONDO:0800064 False osteogenesis imperfecta, type 18 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044332 MONDO:0005395 False childhood-onset benign chorea with striatal involvement movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044333 MONDO:0010198 False alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32848,7 +32817,6 @@ MONDO:0049223 MONDO:0800064 False osteogenesis imperfecta, type 19 osteogenesis MONDO:0054549 MONDO:0100261 False peroxisome biogenesis disorder 10B peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054550 MONDO:1030002 False avascular necrosis of femoral head, primary, 1 dysplasia of the proximal femoral epiphyses UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054573 MONDO:0002254 False Lopes-Maciel-Rodan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054573 MONDO:0003847 False Lopes-Maciel-Rodan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054581 MONDO:0800066 False Townes-Brocks syndrome 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0002254 False Stankiewicz-Isidor syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0700092 False Stankiewicz-Isidor syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32906,7 +32874,6 @@ MONDO:0060591 MONDO:0003847 False immunodeficiency, developmental delay, and hyp MONDO:0060596 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060611 MONDO:0003847 False combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060621 MONDO:0100500 False neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0060622 MONDO:0100038 False neurodevelopmental disorder with severe motor impairment and absent language complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060622 MONDO:0100500 False neurodevelopmental disorder with severe motor impairment and absent language Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060624 MONDO:0100500 False neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 15 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32985,9 +32952,9 @@ MONDO:0100003 MONDO:0020573 False susceptibility to angioedema induced by ACE in MONDO:0100004 MONDO:0004805 False mast cell activation syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100006 MONDO:0100004 False secondary mast cell activation syndrome mast cell activation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100008 MONDO:0009172 False food protein-induced enterocolitis syndrome enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100010 MONDO:0002081 False disease of the tendon musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100010 MONDO:0003900 False disease of the tendon connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100011 MONDO:0100010 False tendinosis disease of the tendon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100010 MONDO:0002081 False tendinopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100010 MONDO:0003900 False tendinopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100011 MONDO:0100010 False tendinosis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0000587 False autoimmune retinopathy autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0002977 False autoimmune retinopathy autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0005283 False autoimmune retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33314,8 +33281,9 @@ MONDO:0700149 MONDO:1012570 False canine sarcoma cancer, dog UNSUPPORTED-MISSING MONDO:0700150 MONDO:1011555 False canine mastocytoma mast cell tumor, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700151 MONDO:1011336 False canine glioma nervous system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700152 MONDO:0700099 False canine hepatocellular carcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700152 MONDO:1011311 False canine hepatocellular carcinoma digestive system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700152 MONDO:1011317 False canine hepatocellular carcinoma endocrine system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700152 MONDO:1012570 False canine hepatocellular carcinoma cancer, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700152 MONDO:1012967 False canine hepatocellular carcinoma liver disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:0700099 False canine lung adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:0700104 False canine lung adenocarcinoma respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:1012570 False canine lung adenocarcinoma cancer, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33439,7 +33407,6 @@ MONDO:0800117 MONDO:0400006 False cutaneous botryomycosis botryomycosis UNSUPPOR MONDO:0800119 MONDO:0002465 False postinfectious bronchiolitis obliterans bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800127 MONDO:0018634 False pulmonary amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800129 MONDO:0019751 False autoinflammatory disease, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800129 MONDO:0023603 False autoinflammatory disease, X-linked hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800130 MONDO:0019751 False autoinflammatory syndrome with immunodeficiency autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800132 MONDO:0003847 False autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800133 MONDO:0005087 False pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33502,7 +33469,6 @@ MONDO:0800331 MONDO:0004736 False hyperglycinemia, transient neonatal inborn dis MONDO:0800335 MONDO:0000700 False migraine, familial hemiplegic, 4 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800337 MONDO:0005240 False acute tubulointerstitial nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800339 MONDO:0016120 False laryngospasm, severe neonatal episodic myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800341 MONDO:0100108 False congenital myopathy 4A, autosomal dominant TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800344 MONDO:0005172 False brachydactyly-syndactyly-oligodactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800345 MONDO:0018054 False atrial fibrillation, familial, 17 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800346 MONDO:0018901 False left ventricular noncompaction 9 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33624,7 +33590,6 @@ MONDO:0859000 MONDO:0015159 False SLC12A2-related developmental delay-intellectu MONDO:0859004 MONDO:0002041 False invasive scopulariopsis infection fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859005 MONDO:0021004 False preaxial digit brachydactyly-webbed fingers brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859006 MONDO:0018230 False proximal femoral focal deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859046 MONDO:0003847 False rhabdomyosarcoma, embryonal, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859046 MONDO:0005212 False rhabdomyosarcoma, embryonal, 2 rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859050 MONDO:0020573 False Schistosoma mansoni infection, susceptibility/resistance to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859080 MONDO:0020119 False intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -33639,7 +33604,6 @@ MONDO:0859142 MONDO:0700092 False Hiatt-Neu-Cooper neurodevelopmental syndrome n MONDO:0859143 MONDO:0003847 False Radio-Tartaglia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859144 MONDO:0003847 False Buratti-Harel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859146 MONDO:0003847 False growth restriction, hypoplastic kidneys, alopecia, and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859147 MONDO:0003847 False Marbach-Rustad progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859148 MONDO:0700092 False neurodevelopmental disorder with seizures and gingival overgrowth neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859149 MONDO:0005347 False hypertriglyceridemia 2 hypertriglyceridemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859150 MONDO:0003847 False BDV syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33649,7 +33613,6 @@ MONDO:0859152 MONDO:0700092 False neurodevelopmental disorder with cerebellar at MONDO:0859154 MONDO:0017435 False Bartsocas-Papas syndrome 2 popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859155 MONDO:0019040 False chromosome 1p36 deletion syndrome, proximal chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859156 MONDO:0018234 False dysostosis multiplex, Ain-Naz type dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859157 MONDO:0003847 False visceral myopathy 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859157 MONDO:0016829 False visceral myopathy 2 familial visceral myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859158 MONDO:0003847 False ataxia, intention tremor, and hypotonia syndrome, childhood-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859159 MONDO:0003847 False deafness, cataract, impaired intellectual development, and polyneuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33689,7 +33652,7 @@ MONDO:0859196 MONDO:0003847 False Usmani-Riazuddin syndrome, autosomal recessive MONDO:0859198 MONDO:0003847 False short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859199 MONDO:0003847 False developmental delay with or without intellectual impairment or behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859200 MONDO:0003847 False cerebellar ataxia, brain abnormalities, and cardiac conduction defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859201 MONDO:0100500 False neurodevelopmental disorder with impaired language and ataxia and with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859201 MONDO:0700092 False neurodevelopmental disorder with impaired language and ataxia and with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859202 MONDO:0003847 False developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859203 MONDO:0018230 False rhizomelic dysplasia, Ain-Naz type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859204 MONDO:0003847 False fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33698,7 +33661,7 @@ MONDO:0859205 MONDO:0003847 False delayed puberty, self-limited hereditary disea MONDO:0859206 MONDO:0700092 False neurodevelopmental disorder with hearing loss and spasticity neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859207 MONDO:0700092 False neurodevelopmental disorder with hypotonia and gross motor and speech delay neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859210 MONDO:0019040 False chromosome 16q12 duplication syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859211 MONDO:0100500 False neurodevelopmental disorder with hyperkinetic movements and dyskinesia Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859211 MONDO:0700092 False neurodevelopmental disorder with hyperkinetic movements and dyskinesia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859212 MONDO:0700092 False neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859213 MONDO:0000119 False congenital heart defects, multiple types, 8, with or without heterotaxy congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859214 MONDO:0700092 False Marbach-Schaaf neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33748,7 +33711,7 @@ MONDO:0859266 MONDO:0700092 False neurodevelopmental disorder with severe motor MONDO:0859271 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 25 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859272 MONDO:0700092 False neurodevelopmental disorder with speech delay and variable ocular anomalies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859273 MONDO:0005154 False liver disease, severe congenital liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859274 MONDO:0100500 False neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859274 MONDO:0700092 False neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859275 MONDO:0700092 False neurodevelopmental disorder with spasticity, seizures, and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859276 MONDO:0003847 False primordial dwarfism-immunodeficiency-lipodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859277 MONDO:0003847 False intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33757,21 +33720,21 @@ MONDO:0859281 MONDO:0003847 False intellectual developmental disorder with autis MONDO:0859282 MONDO:0700092 False neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859283 MONDO:0700092 False neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859285 MONDO:0700092 False neurodevelopmental disorder with microcephaly, short stature, and speech delay neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859286 MONDO:0100500 False neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859286 MONDO:0700092 False neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859287 MONDO:0700092 False neurodevelopmental disorder with microcephaly, hypotonia, and absent language neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859288 MONDO:0003847 False bone marrow failure and diabetes mellitus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859289 MONDO:0005020 False intestinal dysmotility syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859290 MONDO:0017773 False familial apolipoprotein gene cluster deletion syndrome hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859292 MONDO:0003847 False developmental delay, behavioral abnormalities, and neuropsychiatric disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859293 MONDO:0700092 False neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859295 MONDO:0100500 False neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859295 MONDO:0700092 False neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859296 MONDO:0700092 False neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859297 MONDO:0700092 False neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859298 MONDO:0700092 False neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859301 MONDO:0700092 False neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859302 MONDO:0003847 False hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859303 MONDO:0003847 False intellectual developmental disorder with ocular anomalies and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859304 MONDO:0024237 False neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859304 MONDO:0005559 False neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859305 MONDO:0700092 False neurodevelopmental disorder with eye movement abnormalities and ataxia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859306 MONDO:0003847 False developmental delay with variable intellectual disability and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859307 MONDO:0005516 False cleidocranial dysplasia 2 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33908,7 +33871,6 @@ MONDO:0958001 MONDO:0003847 False Alfadhel syndrome hereditary disease UNSUPPORT MONDO:0958005 MONDO:0002254 False Hoxha-Aliu syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958005 MONDO:0003847 False Hoxha-Aliu syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958006 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Guo-Campeau type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958013 MONDO:0100337 False immunodeficiency, common variable, 15 SEC61A1 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958034 MONDO:0020088 False lipodystrophy, familial partial, type 9 familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0958037 MONDO:0000158 False developmental dysplasia of the hip 3 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0958071 MONDO:0100500 False Hao-Fountain syndrome due to USP7 mutation Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33934,7 +33896,6 @@ MONDO:0958205 MONDO:0002254 False Yuksel-Vogel-Bauer syndrome syndromic disease MONDO:0958224 MONDO:0100198 False encephalopathy, porphyria-related Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958226 MONDO:0019046 False leukoencephalopathy, porphyria-related leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0958227 MONDO:0002254 False polydactyly-macrocephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958227 MONDO:0003847 False polydactyly-macrocephaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958229 MONDO:0005385 False bleeding disorder, vascular-type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958231 MONDO:0700092 False neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958237 MONDO:0003847 False isolated hyperferritinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33955,7 +33916,6 @@ MONDO:0958275 MONDO:0002320 False segmental spinal dysgenesis congenital nervous MONDO:0958275 MONDO:0002545 False segmental spinal dysgenesis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958278 MONDO:0700092 False neurodevelopmental disorder with hypotonia and characteristic brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958279 MONDO:0002254 False megalencephaly-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0958279 MONDO:0003847 False megalencephaly-polydactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958323 MONDO:0100500 False neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958326 MONDO:0020242 False macular dystrophy with or without cone dysfunction hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958328 MONDO:0019342 False Seckel syndrome 11 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING From 969d3da395d2c36aba52998ff20583da71513978 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Wed, 4 Dec 2024 19:42:04 -0500 Subject: [PATCH 2/2] Subclass Sync - Direct in source, indirect in Mondo - Mini build - Update: Re-ran again, this time using the most up-to-date inputs. --- src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- .../doid.subclass.added-obsolete.robot.tsv | 2 + .../reports/doid.subclass.added.robot.tsv | 8 +- ...med-direct-source-indirect-mondo.robot.tsv | 5 +- .../reports/doid.subclass.confirmed.robot.tsv | 10 +- .../reports/ncit.subclass.added.robot.tsv | 1 - ...med-direct-source-indirect-mondo.robot.tsv | 1 + .../reports/ncit.subclass.confirmed.robot.tsv | 2 +- .../omim.subclass.added-obsolete.robot.tsv | 1 + .../reports/omim.subclass.added.robot.tsv | 2 +- ...med-direct-source-indirect-mondo.robot.tsv | 3 +- .../reports/omim.subclass.confirmed.robot.tsv | 7 +- .../ordo.subclass.added-obsolete.robot.tsv | 42 ++-- .../reports/ordo.subclass.added.robot.tsv | 10 +- ...med-direct-source-indirect-mondo.robot.tsv | 16 +- .../reports/ordo.subclass.confirmed.robot.tsv | 16 +- ...confirmed-direct-source-indirect-mondo.tsv | 25 +-- .../reports/sync-subClassOf.confirmed.tsv | 35 ++-- .../sync-subClassOf.direct-in-mondo-only.tsv | 193 +++++++++++------- 20 files changed, 174 insertions(+), 213 deletions(-) diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 94bd8528..2f828f96 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-11-27") +Annotation(owl:versionInfo "2024-12-04") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 323fb1d8..a82b3a90 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-11-27") +Annotation(owl:versionInfo "2024-12-04") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv index 83b7f4c9..d5192f86 100644 --- a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv @@ -219,6 +219,8 @@ MONDO:0008262 Poland syndrome MONDO:0000839 DOID:12961 DOID:0080015 obsolete con MONDO:0008331 obsolete pseudopapilledema MONDO:0001834 DOID:1392 DOID:1393 visual pathway disorder MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0000839 DOID:0060261 DOID:0080015 obsolete congenital abnormality MONDO:0008394 Silver-Russell syndrome MONDO:0000839 DOID:14681 DOID:0080015 obsolete congenital abnormality +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0000426 DOID:0080376 DOID:0050736 autosomal dominant disease +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0002254 DOID:0080376 DOID:225 syndromic disease MONDO:0008617 inflammatory bowel disease 11 MONDO:0000275 DOID:0110894 DOID:0050177 obsolete monogenic disease MONDO:0008652 congenital vertical talus MONDO:0000839 DOID:0111568 DOID:0080015 obsolete congenital abnormality MONDO:0008661 vitiligo MONDO:0017841 DOID:12306 DOID:0060039 obsolete autoimmune disease with skin involvement diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 618af72e..ebf88264 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -479,7 +479,6 @@ MONDO:0004004 motor nerve neuritis MONDO:0020128 DOID:683 DOID:231 motor neuron MONDO:0004015 pineal region teratoma MONDO:0002073 DOID:6856 DOID:1660 malignant pineal area germ cell neoplasm MONDO:0004022 parasagittal meningioma MONDO:0003774 DOID:6869 DOID:6114 cerebral convexity meningioma MONDO:0004024 spinal cord neuroblastoma MONDO:0006426 DOID:6871 DOID:6872 spinal cord primitive neuroectodermal tumor -MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 DOID:6898 DOID:4001 ovarian carcinoma MONDO:0004041 urothelial papilloma MONDO:0003442 DOID:6933 DOID:5432 bladder papillary urothelial neoplasm MONDO:0004050 telangiectatic osteogenic sarcoma MONDO:0002631 DOID:6951 DOID:7602 conventional osteosarcoma MONDO:0004077 lumbosacral lipoma MONDO:0000631 DOID:7017 DOID:0060094 bone benign neoplasm @@ -608,7 +607,6 @@ MONDO:0005077 pertussis MONDO:0000315 DOID:1116 DOID:0050339 commensal bacterial MONDO:0005097 squamous cell lung carcinoma MONDO:0005233 DOID:3907 DOID:3908 non-small cell lung carcinoma MONDO:0005101 ulcerative colitis MONDO:0000588 DOID:8577 DOID:0060031 autoimmune disorder of gastrointestinal tract MONDO:0005105 melanoma MONDO:0004992 DOID:1909 DOID:0050687 cancer -MONDO:0005112 malignant pleural mesothelioma MONDO:0005096 DOID:7474 DOID:1749 squamous cell carcinoma MONDO:0005118 human granulocytic ehrlichiosis MONDO:0016003 DOID:0050025 DOID:10242 ehrlichiosis MONDO:0005137 nutritional disorder MONDO:0006504 DOID:374 DOID:0060158 acquired metabolic disease MONDO:0005150 age-related macular degeneration MONDO:0000426 DOID:10871 DOID:0050736 autosomal dominant disease @@ -649,7 +647,6 @@ MONDO:0005462 primitive neuroectodermal tumor MONDO:0005872 DOID:171 DOID:3093 n MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0000628 DOID:2679 DOID:0060090 central nervous system organ benign neoplasm MONDO:0005508 hereditary multiple osteochondromas MONDO:0000426 DOID:206 DOID:0050736 autosomal dominant disease MONDO:0005509 histiocytoma MONDO:0000654 DOID:4231 DOID:0060123 benign connective and soft tissue neoplasm -MONDO:0005512 malignant peritoneal mesothelioma MONDO:0005096 DOID:1788 DOID:1749 squamous cell carcinoma MONDO:0005557 calcium metabolic disease MONDO:0024301 DOID:10575 DOID:0050032 acquired mineral metabolism disease MONDO:0005564 embryonal neoplasm MONDO:0005040 DOID:688 DOID:2994 germ cell tumor MONDO:0005596 cystadenocarcinoma MONDO:0859690 DOID:3111 DOID:60004 malignant cystadenoma @@ -983,7 +980,6 @@ MONDO:0007718 hepatic adenomas, familial MONDO:0006025 DOID:0111366 DOID:0050737 MONDO:0007726 hip dysplasia, Beukes type MONDO:0000426 DOID:0111367 DOID:0050736 autosomal dominant disease MONDO:0007726 hip dysplasia, Beukes type MONDO:0005178 DOID:0111367 DOID:8398 osteoarthritis MONDO:0007727 autosomal dominant familial periodic fever MONDO:0000426 DOID:0090018 DOID:0050736 autosomal dominant disease -MONDO:0007727 autosomal dominant familial periodic fever MONDO:0003778 DOID:0090018 DOID:612 inborn error of immunity MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000426 DOID:0060931 DOID:0050736 autosomal dominant disease MONDO:0007733 holoprosencephaly 3 MONDO:0000426 DOID:0110875 DOID:0050736 autosomal dominant disease MONDO:0007734 holoprosencephaly 4 MONDO:0000426 DOID:0110880 DOID:0050736 autosomal dominant disease @@ -1507,6 +1503,7 @@ MONDO:0009665 biotinidase deficiency MONDO:0006025 DOID:856 DOID:0050737 autosom MONDO:0009673 spinal muscular atrophy, type II MONDO:0006025 DOID:0050530 DOID:0050737 autosomal recessive disease MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0006025 DOID:0110671 DOID:0050737 autosomal recessive disease MONDO:0009690 congenital myasthenic syndrome 10 MONDO:0006025 DOID:0110668 DOID:0050737 autosomal recessive disease +MONDO:0009696 juvenile myoclonic epilepsy MONDO:0000415 DOID:4890 DOID:0050705 adolescence-adult electroclinical syndrome MONDO:0009697 Lafora disease MONDO:0006025 DOID:3534 DOID:0050737 autosomal recessive disease MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0006025 DOID:0111452 DOID:0050737 autosomal recessive disease MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0006025 DOID:0111444 DOID:0050737 autosomal recessive disease @@ -3440,7 +3437,6 @@ MONDO:0017923 multiple synostoses syndrome MONDO:0000426 DOID:0050794 DOID:00507 MONDO:0018029 congenital factor XIII deficiency MONDO:0006025 DOID:2211 DOID:0050737 autosomal recessive disease MONDO:0018071 trisomy 18 MONDO:0000762 DOID:1085 DOID:0060429 syndrome caused by partial chromosomal duplication MONDO:0018088 familial Mediterranean fever MONDO:0000429 DOID:2987 DOID:0050739 autosomal genetic disease -MONDO:0018088 familial Mediterranean fever MONDO:0007179 DOID:2987 DOID:417 autoimmune disease MONDO:0018106 hereditary xanthinuria MONDO:0006025 DOID:0060236 DOID:0050737 autosomal recessive disease MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0006025 DOID:0070490 DOID:0050737 autosomal recessive disease MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0002350 DOID:0080388 DOID:2590 familial nephrotic syndrome @@ -3487,7 +3483,6 @@ MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0000426 DOID:0081126 DOID:0050736 a MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0002254 DOID:0081126 DOID:225 syndromic disease MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO:0003274 DOID:0080532 DOID:5093 thoracic cancer MONDO:0018767 severe primary trimethylaminuria MONDO:0006025 DOID:0080361 DOID:0050737 autosomal recessive disease -MONDO:0018768 familial cold autoinflammatory syndrome MONDO:0003778 DOID:0090061 DOID:612 inborn error of immunity MONDO:0018770 Jeune syndrome MONDO:0005497 DOID:0050592 DOID:0080006 bone development disease MONDO:0018772 Joubert syndrome MONDO:0005560 DOID:0050777 DOID:936 brain disorder MONDO:0018801 congenital bilateral absence of vas deferens MONDO:0000425 DOID:0111862 DOID:0050735 X-linked disease @@ -4324,7 +4319,6 @@ MONDO:0800029 interstitial lung disease 2 MONDO:0000426 DOID:0060971 DOID:005073 MONDO:0800042 restrictive dermopathy 1 MONDO:0006025 DOID:0070369 DOID:0050737 autosomal recessive disease MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0006025 DOID:0060728 DOID:0050737 autosomal recessive disease MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0000426 DOID:0080944 DOID:0050736 autosomal dominant disease -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0003778 DOID:0080944 DOID:612 inborn error of immunity MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0000426 DOID:0090102 DOID:0050736 autosomal dominant disease MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0000426 DOID:0070020 DOID:0050736 autosomal dominant disease MONDO:0800368 cardiomyopathy, dilated, 1MM MONDO:0000426 DOID:0081158 DOID:0050736 autosomal dominant disease diff --git a/src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv index 13b70df0..20daaddd 100644 --- a/src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -1382,7 +1382,6 @@ MONDO:0008582 tooth and nail syndrome MONDO:0002254 DOID:6678 DOID:225 syndromic MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:0004335 DOID:0080171 DOID:77 digestive system disorder MONDO:0008592 tricho-dento-osseous syndrome MONDO:0002254 DOID:0111565 DOID:225 syndromic disease MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0002254 DOID:14743 DOID:225 syndromic disease -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0002254 DOID:0080376 DOID:225 syndromic disease MONDO:0008627 ureter cancer MONDO:0001926 DOID:11819 DOID:1426 ureteral disorder MONDO:0008633 Muckle-Wells syndrome MONDO:0002254 DOID:0050854 DOID:225 syndromic disease MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0005385 DOID:0111567 DOID:178 vascular disorder @@ -1552,7 +1551,6 @@ MONDO:0009693 plasma cell myeloma MONDO:0004805 DOID:9538 DOID:9500 leukocyte di MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0002525 DOID:0090129 DOID:3146 inherited lipid metabolism disorder MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0019952 DOID:0080102 DOID:0081337 congenital myopathy MONDO:0009725 nemaline myopathy 2 MONDO:0018958 DOID:0110928 DOID:3191 nemaline myopathy -MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0002254 DOID:0060913 DOID:225 syndromic disease MONDO:0009735 Netherton syndrome MONDO:0005093 DOID:0050474 DOID:37 skin disorder MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000421 DOID:0080076 DOID:0050721 inborn serine deficiency MONDO:0009737 galactosialidosis MONDO:0002561 DOID:0080540 DOID:3211 lysosomal storage disease @@ -1876,6 +1874,7 @@ MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome MONDO:0002254 DOI MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0000761 DOID:0060410 DOID:0060388 syndrome caused by partial chromosomal deletion MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0004976 DOID:0060198 DOID:332 amyotrophic lateral sclerosis MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0004976 DOID:0060199 DOID:332 amyotrophic lateral sclerosis +MONDO:0011959 sweet syndrome MONDO:0005093 DOID:0080746 DOID:37 skin disorder MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015364 DOID:0070148 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0015131 DOID:0112064 DOID:0111962 combined immunodeficiency MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0019064 DOID:0110776 DOID:2476 hereditary spastic paraplegia @@ -2923,7 +2922,6 @@ MONDO:0100522 hypotrichosis 4 MONDO:0003037 DOID:0110701 DOID:4535 hypotrichosis MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 DOID:0070246 DOID:11726 Emery-Dreifuss muscular dystrophy MONDO:0700081 newborn respiratory distress syndrome MONDO:0021113 DOID:12716 DOID:11162 respiratory failure MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0003441 DOID:0090049 DOID:543 dystonic disorder -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy MONDO:0800029 interstitial lung disease 2 MONDO:0015925 DOID:0060971 DOID:3082 interstitial lung disease MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0002049 DOID:0090102 DOID:1588 thrombocytopenia MONDO:0800368 cardiomyopathy, dilated, 1MM MONDO:0005021 DOID:0081158 DOID:12930 dilated cardiomyopathy @@ -2933,6 +2931,7 @@ MONDO:0850154 tongue carcinoma MONDO:0004993 DOID:0080641 DOID:305 carcinoma MONDO:0850345 lung pleomorphic carcinoma MONDO:0008903 DOID:0080899 DOID:1324 lung cancer MONDO:0850347 bladder sarcomatoid transitional cell carcinoma MONDO:0001187 DOID:0080901 DOID:11054 urinary bladder cancer MONDO:0850415 rhabdomyolysis-myalgia syndrome MONDO:0005336 DOID:0080992 DOID:423 myopathy +MONDO:0850416 autoimmune epilepsy MONDO:0005027 DOID:0080994 DOID:1826 epilepsy MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype MONDO:0100342 DOID:0081277 DOID:3070 malignant glioma MONDO:0858950 traumatic brain injury MONDO:0005560 DOID:0081292 DOID:936 brain disorder MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0005093 DOID:0070510 DOID:37 skin disorder diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index 1b8ae385..4af795e3 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -1332,6 +1332,7 @@ MONDO:0002220 tooth hard tissue disease MONDO:0006999 DOID:214 DOID:1091 tooth d MONDO:0002221 urethral urothelial papilloma MONDO:0004177 DOID:2140 DOID:730 benign urethral neoplasm MONDO:0002222 urethra leiomyoma MONDO:0001572 DOID:2142 DOID:127 leiomyoma MONDO:0002222 urethra leiomyoma MONDO:0004177 DOID:2142 DOID:730 benign urethral neoplasm +MONDO:0002223 ovarian malignant mesothelioma MONDO:0006292 DOID:2143 DOID:1790 malignant mesothelioma MONDO:0002223 ovarian malignant mesothelioma MONDO:0008170 DOID:2143 DOID:2394 ovarian cancer MONDO:0002224 malignant ovarian cyst MONDO:0008170 DOID:2145 DOID:2394 ovarian cancer MONDO:0002225 ovarian sarcoma MONDO:0008170 DOID:2146 DOID:2394 ovarian cancer @@ -2384,6 +2385,7 @@ MONDO:0003802 cornea cancer MONDO:0002236 DOID:6199 DOID:2174 ocular cancer MONDO:0003803 aortic valve disorder MONDO:0002869 DOID:62 DOID:4079 heart valve disorder MONDO:0003803 aortic valve disorder MONDO:0005561 DOID:62 DOID:520 aortic disorder MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 DOID:6201 DOID:116 pericardium cancer +MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 DOID:6201 DOID:1790 malignant mesothelioma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 DOID:6208 DOID:4050 mediastinum sarcoma MONDO:0003810 bladder diffuse clear cell adenocarcinoma MONDO:0003386 DOID:6210 DOID:5306 bladder clear cell adenocarcinoma MONDO:0003812 ovarian endometrial cancer MONDO:0002480 DOID:6212 DOID:3001 endometrioid tumor @@ -2542,6 +2544,7 @@ MONDO:0004026 skin tag MONDO:0006603 DOID:6873 DOID:2053 reactive cutaneous fibr MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 DOID:6880 DOID:5272 small intestinal sarcoma MONDO:0004028 small intestinal fibrosarcoma MONDO:0005164 DOID:6880 DOID:3355 fibrosarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 DOID:6888 DOID:4939 ureter carcinoma +MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 DOID:6898 DOID:4001 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 DOID:6903 DOID:2174 ocular cancer MONDO:0004034 eye lymphoma MONDO:0005062 DOID:6903 DOID:0060058 lymphoma MONDO:0004035 glomangiomatosis MONDO:0003342 DOID:6906 DOID:5238 benign perivascular tumor @@ -3309,6 +3312,7 @@ MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 DOID:3907 DOID:1749 squ MONDO:0005100 systemic sclerosis MONDO:0019340 DOID:418 DOID:419 scleroderma MONDO:0005101 ulcerative colitis MONDO:0005292 DOID:8577 DOID:0060180 colitis MONDO:0005108 viral infectious disease MONDO:0005550 DOID:934 DOID:0050117 infectious disease +MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 DOID:7474 DOID:1790 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 DOID:7474 DOID:5158 pleural cancer MONDO:0005113 bacterial infectious disease MONDO:0005550 DOID:104 DOID:0050117 infectious disease MONDO:0005116 Whipple disease MONDO:0005020 DOID:8476 DOID:5295 intestinal disorder @@ -3467,6 +3471,7 @@ MONDO:0005508 hereditary multiple osteochondromas MONDO:0002181 DOID:206 DOID:20 MONDO:0005510 hydronephrosis MONDO:0003330 DOID:11111 DOID:5200 urinary tract obstruction MONDO:0005511 janus kinase-3 deficiency MONDO:0015974 DOID:0060008 DOID:627 severe combined immunodeficiency MONDO:0005512 malignant peritoneal mesothelioma MONDO:0002087 DOID:1788 DOID:1725 peritoneum cancer +MONDO:0005512 malignant peritoneal mesothelioma MONDO:0006292 DOID:1788 DOID:1790 malignant mesothelioma MONDO:0005514 nanophthalmia MONDO:0021129 DOID:0080634 DOID:10629 microphthalmia MONDO:0005515 oral cavity cancer MONDO:0002516 DOID:8618 DOID:3119 digestive system cancer MONDO:0005516 osteochondrodysplasia MONDO:0005497 DOID:2256 DOID:0080006 bone development disease @@ -4532,7 +4537,6 @@ MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0004680 DOID:8924 DOID:8 MONDO:0008585 HELLP syndrome MONDO:0001641 DOID:13133 DOID:13129 severe pre-eclampsia MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 DOID:0111428 DOID:4990 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0000426 DOID:14743 DOID:0050736 autosomal dominant disease -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0000426 DOID:0080376 DOID:0050736 autosomal dominant disease MONDO:0008599 trigeminal neuralgia MONDO:0003543 DOID:12098 DOID:561 trigeminal nerve disorder MONDO:0008610 blue color blindness MONDO:0001703 DOID:11661 DOID:13399 color vision disorder MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 DOID:0080324 DOID:13515 tuberous sclerosis @@ -4826,7 +4830,6 @@ MONDO:0009685 Miyoshi myopathy MONDO:0018949 DOID:0070198 DOID:11720 distal myop MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 DOID:0110671 DOID:3635 congenital myasthenic syndrome MONDO:0009691 mycosis fungoides MONDO:0000607 DOID:8691 DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0009693 plasma cell myeloma MONDO:0005170 DOID:9538 DOID:0070004 myeloid neoplasm -MONDO:0009696 juvenile myoclonic epilepsy MONDO:0000415 DOID:4890 DOID:0050705 adolescence-adult electroclinical syndrome MONDO:0009697 Lafora disease MONDO:0020074 DOID:3534 DOID:891 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 DOID:3535 DOID:891 progressive myoclonus epilepsy MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0020074 DOID:0111444 DOID:891 progressive myoclonus epilepsy @@ -5557,7 +5560,6 @@ MONDO:0011945 Gaucher disease perinatal lethal MONDO:0018150 DOID:0110960 DOID:1 MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 DOID:0060272 DOID:0060264 pontocerebellar hypoplasia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 DOID:0111617 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 DOID:0070517 DOID:0070438 macular dystrophy, retinal -MONDO:0011959 sweet syndrome MONDO:0005093 DOID:0080746 DOID:37 skin disorder MONDO:0011960 schizophrenia 11 MONDO:0005090 DOID:0070087 DOID:5419 schizophrenia MONDO:0011962 endometrial cancer MONDO:0002715 DOID:1380 DOID:363 uterine cancer MONDO:0011963 Joubert syndrome 2 MONDO:0018772 DOID:0110988 DOID:0050777 Joubert syndrome @@ -7884,6 +7886,7 @@ MONDO:0100452 RPE65-related dominant retinopathy MONDO:0000426 DOID:0112144 DOID MONDO:0100459 azoospermia MONDO:0005372 DOID:14227 DOID:12336 male infertility MONDO:0100510 spondyloepimetaphyseal dysplasia MONDO:0005516 DOID:0080027 DOID:2256 osteochondrodysplasia MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0004947 DOID:0080649 DOID:0080630 B-cell acute lymphoblastic leukemia +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0005395 DOID:0070487 DOID:480 movement disorder MONDO:0700200 atypical dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070488 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 DOID:0081358 DOID:4603 epidermolytic ichthyosis @@ -7975,7 +7978,6 @@ MONDO:0850368 immunoglobulin heavy-and-light chain MONDO:0019065 DOID:0080935 DO MONDO:0850371 nonobstructive coronary artery disease MONDO:0005010 DOID:0080938 DOID:3393 coronary artery disorder MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered MONDO:0004378 DOID:0080956 DOID:7841 pediatric cerebral ependymoblastoma MONDO:0850416 autoimmune epilepsy MONDO:0000568 DOID:0080994 DOID:0060004 autoimmune disorder of central nervous system -MONDO:0850416 autoimmune epilepsy MONDO:0005027 DOID:0080994 DOID:1826 epilepsy MONDO:0850417 tuberculous encephalopathy MONDO:0018076 DOID:0080995 DOID:399 tuberculosis MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type MONDO:0018905 DOID:0080996 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type MONDO:0018905 DOID:0080997 DOID:0050745 diffuse large B-cell lymphoma diff --git a/src/ontology/reports/ncit.subclass.added.robot.tsv b/src/ontology/reports/ncit.subclass.added.robot.tsv index 9cf0d52e..c8293e94 100644 --- a/src/ontology/reports/ncit.subclass.added.robot.tsv +++ b/src/ontology/reports/ncit.subclass.added.robot.tsv @@ -174,7 +174,6 @@ MONDO:0003988 sternum lymphoma MONDO:0003985 NCIT:C6716 NCIT:C6712 chest wall ly MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0004010 NCIT:C6186 NCIT:C39879 infiltrating renal pelvis/ureter urothelial carcinoma MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma MONDO:0020654 NCIT:C39879 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0004021 mediastinal malignant lymphoma MONDO:0017207 NCIT:C6633 NCIT:C7185 primary organ-specific lymphoma -MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C4908 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0017207 NCIT:C35690 NCIT:C7185 primary organ-specific lymphoma MONDO:0004048 immature gastric teratoma MONDO:0024857 NCIT:C5256 NCIT:C8884 immature extragonadal teratoma MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma MONDO:0004056 NCIT:C27202 NCIT:C7383 bladder papillary urothelial carcinoma diff --git a/src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv index 04522521..8ea9959a 100644 --- a/src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv +++ b/src/ontology/reports/ncit.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -359,6 +359,7 @@ MONDO:0021281 cavernous hemangioma of retina MONDO:0003155 NCIT:C4921 NCIT:C3086 MONDO:0021281 cavernous hemangioma of retina MONDO:0021453 NCIT:C4921 NCIT:C3624 benign neoplasm of retina MONDO:0021301 adenoma of nipple MONDO:0004972 NCIT:C4192 NCIT:C2855 adenoma MONDO:0021301 adenoma of nipple MONDO:0036976 NCIT:C4192 NCIT:C4092 benign epithelial neoplasm +MONDO:0021313 eyelid cancer MONDO:0002235 NCIT:C6786 NCIT:C3031 eyelid neoplasm MONDO:0021333 carcinoma of lip MONDO:0023644 NCIT:C3490 NCIT:C9315 lip and oral cavity carcinoma MONDO:0021427 squamous cell carcinoma of lip MONDO:0044710 NCIT:C4042 NCIT:C42690 lip and oral cavity squamous cell carcinoma MONDO:0021440 benign neoplasm of skin MONDO:0005165 NCIT:C2896 NCIT:C3677 benign neoplasm diff --git a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv index b5b4638d..b7231811 100644 --- a/src/ontology/reports/ncit.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ncit.subclass.confirmed.robot.tsv @@ -1705,6 +1705,7 @@ MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 NCIT:C5336 NCIT:C5335 MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 NCIT:C4830 NCIT:C8993 ureter carcinoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0020654 NCIT:C4830 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0004032 ovarian seromucinous carcinoma MONDO:0003811 NCIT:C40090 NCIT:C4508 ovarian seromucinous tumor +MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C4908 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 NCIT:C35690 NCIT:C4767 ocular cancer MONDO:0004040 urinary bladder inverted papilloma MONDO:0021109 NCIT:C39859 NCIT:C6192 inverted urothelial papilloma MONDO:0004040 urinary bladder inverted papilloma MONDO:0044906 NCIT:C39859 NCIT:C39858 bladder urothelial papilloma @@ -3436,7 +3437,6 @@ MONDO:0021310 malignant tumor of neck MONDO:0021351 NCIT:C4940 NCIT:C3260 neopla MONDO:0021311 malignant tumor of parathyroid gland MONDO:0021360 NCIT:C9322 NCIT:C3313 tumor of parathyroid gland MONDO:0021312 malignant tumor of adrenal cortex MONDO:0002817 NCIT:C9327 NCIT:C9338 adrenal gland cancer MONDO:0021312 malignant tumor of adrenal cortex MONDO:0036591 NCIT:C9327 NCIT:C2858 adrenal cortex neoplasm -MONDO:0021313 eyelid cancer MONDO:0002235 NCIT:C6786 NCIT:C3031 eyelid neoplasm MONDO:0021313 eyelid cancer MONDO:0002236 NCIT:C6786 NCIT:C4767 ocular cancer MONDO:0021315 malignant tumor of nasopharynx MONDO:0005375 NCIT:C9321 NCIT:C3257 nasopharyngeal neoplasm MONDO:0021315 malignant tumor of nasopharynx MONDO:0005517 NCIT:C9321 NCIT:C7545 pharynx cancer diff --git a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv index b681653a..4f552caa 100644 --- a/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/omim.subclass.added-obsolete.robot.tsv @@ -1,5 +1,6 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source +MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0017951 OMIM:190351 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0009827 obsolete pachyonychia congenita, autosomal recessive MONDO:0016471 OMIM:260130 OMIMPS:167200 pachyonychia congenita MONDO:0014709 obsolete Heimler syndrome 2 MONDO:0019234 OMIM:616617 OMIMPS:214100 peroxisome biogenesis disorder MONDO:0014755 skin creases, congenital symmetric circumferential, 2 MONDO:0000204 OMIM:616734 OMIMPS:156610 obsolete skin creases, congenital symmetric circumferential diff --git a/src/ontology/reports/omim.subclass.added.robot.tsv b/src/ontology/reports/omim.subclass.added.robot.tsv index 74a724ed..d231c712 100644 --- a/src/ontology/reports/omim.subclass.added.robot.tsv +++ b/src/ontology/reports/omim.subclass.added.robot.tsv @@ -236,7 +236,7 @@ MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MON MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:0017161 OMIM:619141 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0030928 microcephaly 26, primary, autosomal dominant MONDO:0016660 OMIM:619179 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0030929 microcephaly 27, primary, autosomal dominant MONDO:0016660 OMIM:619180 OMIMPS:251200 autosomal recessive primary microcephaly -MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome +MONDO:0030991 bile acid conjugation defect 1 MONDO:0100327 OMIM:619232 OMIMPS:607748 hypercholanemia, familial MONDO:0032659 mucocutaneous ulceration, chronic MONDO:0031384 OMIM:618287 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 OMIM:618357 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0032702 Coffin-Siris syndrome 8 MONDO:0100172 OMIM:618362 OMIMPS:156200 intellectual disability, autosomal dominant diff --git a/src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv index 457e4fe6..0d33a1c8 100644 --- a/src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -564,7 +564,6 @@ MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:00 MONDO:0014083 agammaglobulinemia 7, autosomal recessive MONDO:0015977 OMIM:615214 OMIMPS:601495 agammaglobulinemia MONDO:0014086 osteogenesis imperfecta type 15 MONDO:0019019 OMIM:615220 OMIMPS:166200 osteogenesis imperfecta MONDO:0014090 polydactyly, postaxial, type A6 MONDO:0020927 OMIM:615226 OMIMPS:174200 postaxial polydactyly -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014099 nephrotic syndrome, type 8 MONDO:0002350 OMIM:615244 OMIMPS:256300 familial nephrotic syndrome MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia MONDO:0018555 OMIM:615266 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia MONDO:0018555 OMIM:615267 OMIMPS:147950 hypogonadotropic hypogonadism @@ -817,11 +816,11 @@ MONDO:0100522 hypotrichosis 4 MONDO:0003037 OMIM:146550 OMIMPS:605389 hypotricho MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 OMIM:310300 OMIMPS:310300 Emery-Dreifuss muscular dystrophy MONDO:0700087 Usher syndrome type 1B MONDO:0019501 OMIM:276900 OMIMPS:276900 Usher syndrome MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0044807 OMIM:118800 OMIMPS:128100 inherited dystonia -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive MONDO:0007239 OMIM:620707 OMIMPS:113800 epidermolytic ichthyosis MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant MONDO:0007239 OMIM:620150 OMIMPS:113800 epidermolytic ichthyosis MONDO:0800104 immunodeficiency 105 MONDO:0021094 OMIM:619924 OMIMPS:300755 immunodeficiency disease MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0020074 OMIM:620681 OMIMPS:254800 progressive myoclonus epilepsy +MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0044807 OMIM:620245 OMIMPS:128100 inherited dystonia MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 MONDO:0100172 OMIM:620450 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:0100223 OMIM:619382 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index bd615d69..acd99a6d 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -226,7 +226,6 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 MONDO:0017896 OMIM:188550 OMIMPS:1 MONDO:0008582 tooth and nail syndrome MONDO:0019287 OMIM:189500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 OMIM:190300 OMIMPS:190300 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0017951 OMIM:190350 OMIMPS:190350 trichorhinophalangeal syndrome -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0017951 OMIM:190351 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0008603 trigonocephaly 1 MONDO:0018065 OMIM:190440 OMIMPS:190440 isolated trigonocephaly MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 OMIM:191100 OMIMPS:191100 tuberous sclerosis MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 OMIM:191390 OMIMPS:266600 inflammatory bowel disease @@ -708,7 +707,6 @@ MONDO:0010985 epilepsy, familial adult myoclonic, 1 MONDO:0000160 OMIM:601068 OM MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0019588 OMIM:601071 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0021944 OMIM:601071 OMIMPS:609129 auditory neuropathy MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 MONDO:0019588 OMIM:601072 OMIMPS:220290 hearing loss, autosomal recessive -MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 MONDO:0019180 OMIM:601101 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:0019037 OMIM:601104 OMIMPS:601104 progressive supranuclear palsy MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0005500 OMIM:601110 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011001 Brugada syndrome 1 MONDO:0015263 OMIM:601144 OMIMPS:601144 Brugada syndrome @@ -1999,6 +1997,7 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:0016349 OMIM:615219 OMIMPS:236600 congenital hydrocephalus MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 OMIM:615222 OMIMPS:607326 Smith-McCort dysplasia MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 OMIM:615224 OMIMPS:604348 advanced sleep phase syndrome +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 OMIM:615233 OMIMPS:268000 retinitis pigmentosa MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0000104 OMIM:615234 OMIMPS:206100 anemia, hypochromic microcytic with iron overload MONDO:0014095 dilated cardiomyopathy 1JJ MONDO:0016333 OMIM:615235 OMIMPS:115200 familial dilated cardiomyopathy @@ -2983,6 +2982,7 @@ MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0100223 MONDO:0030998 hearing loss, autosomal dominant 80 MONDO:0019587 OMIM:619274 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031400 OMIM:619951 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031003 hypercholanemia, familial, 2 MONDO:0100327 OMIM:619256 OMIMPS:607748 hypercholanemia, familial +MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0100326 OMIM:619267 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031169 OMIM:619269 OMIMPS:184260 odontochondrodysplasia MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 OMIM:619966 OMIMPS:303350 hereditary spastic paraplegia @@ -3482,6 +3482,7 @@ MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO: MONDO:0100436 cataract 2, multiple types MONDO:0005129 OMIM:604307 OMIMPS:116200 cataract MONDO:0100467 preeclampsia/eclampsia 1 MONDO:0005081 OMIM:189800 OMIMPS:189800 preeclampsia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 MONDO:0015855 OMIM:113700 OMIMPS:113700 isolated congenital breast hypoplasia/aplasia +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy MONDO:0700112 heterotaxy, visceral, 5, autosomal MONDO:0018677 OMIM:270100 OMIMPS:306955 visceral heterotaxy MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 OMIM:113800 OMIMPS:113800 epidermolytic ichthyosis MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 MONDO:0033885 OMIM:220110 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type @@ -3501,7 +3502,6 @@ MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 famil MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0009697 OMIM:620681 OMIMPS:254780 Lafora disease -MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 OMIM:616901 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair @@ -3759,6 +3759,7 @@ MONDO:0958333 thrombocytopenia 13, syndromic MONDO:0100241 OMIM:620776 OMIMPS:31 MONDO:0958334 pulmonary hypertension, primary, 6 MONDO:0017148 OMIM:620777 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 OMIM:620779 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0968946 developmental and epileptic encephalopathy 115 MONDO:0100062 OMIM:620783 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive MONDO:0008947 OMIM:620786 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0968980 otosclerosis 12 MONDO:0005349 OMIM:620792 OMIMPS:166800 otosclerosis MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 MONDO:0019588 OMIM:620794 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 MONDO:0009726 OMIM:620796 OMIMPS:256040 proteosome-associated autoinflammatory syndrome diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 6ccbc36b..c9d30e5f 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -112,7 +112,6 @@ MONDO:0001790 spinal cord lipoma MONDO:0017059 Orphanet:645276 Orphanet:268357 o MONDO:0001881 toxic shock syndrome MONDO:0015575 Orphanet:36234 Orphanet:163582 obsolete rare bacterial infectious disease MONDO:0001945 postencephalitic Parkinson disease MONDO:0017635 Orphanet:97349 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease MONDO:0001945 postencephalitic Parkinson disease MONDO:0020141 Orphanet:97349 Orphanet:98542 obsolete infectious disease with dementia -MONDO:0001971 farmer's lung disease MONDO:0020537 Orphanet:99906 Orphanet:99909 obsolete occupational allergic alveolitis MONDO:0002013 lymphangioma MONDO:0016233 Orphanet:2415 Orphanet:211255 obsolete rare lymphatic system malformation MONDO:0002095 vascular cancer MONDO:0016228 Orphanet:673466 Orphanet:211237 obsolete rare vascular tumor MONDO:0002096 malignant conjunctival melanoma MONDO:0015121 Orphanet:617910 Orphanet:101950 obsolete rare eye tumor @@ -248,11 +247,10 @@ MONDO:0005645 ancylostomiasis MONDO:0015577 Orphanet:78 Orphanet:163588 obsolete MONDO:0005657 aspergillosis MONDO:0015578 Orphanet:1163 Orphanet:163591 obsolete rare mycosis MONDO:0005661 babesiosis MONDO:0015577 Orphanet:108 Orphanet:163588 obsolete rare parasitic disease MONDO:0005662 balantidiasis MONDO:0015577 Orphanet:1223 Orphanet:163588 obsolete rare parasitic disease -MONDO:0005668 bird fancier's lung MONDO:0020537 Orphanet:99908 Orphanet:99909 obsolete occupational allergic alveolitis MONDO:0005680 Brill-Zinsser disease MONDO:8000031 Orphanet:99990 Orphanet:557494 obsolete subtype of a disorder MONDO:0005683 brucellosis MONDO:0015575 Orphanet:1304 Orphanet:163582 obsolete rare bacterial infectious disease MONDO:0005692 cat-scratch disease MONDO:0015575 Orphanet:50839 Orphanet:163582 obsolete rare bacterial infectious disease -MONDO:0005706 coccidioidomycosis MONDO:0015577 Orphanet:228123 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005706 coccidioidomycosis MONDO:0015578 Orphanet:228123 Orphanet:163591 obsolete rare mycosis MONDO:0005708 Colorado tick fever MONDO:0015659 Orphanet:83595 Orphanet:166490 obsolete infectious disease with epilepsy MONDO:0005711 congenital diaphragmatic hernia MONDO:0015118 Orphanet:2140 Orphanet:101944 obsolete rare pulmonary disease MONDO:0005711 congenital diaphragmatic hernia MONDO:0015215 Orphanet:2140 Orphanet:108977 obsolete non-syndromic diaphragmatic or abdominal wall malformation @@ -260,7 +258,7 @@ MONDO:0005711 congenital diaphragmatic hernia MONDO:0015879 Orphanet:2140 Orphan MONDO:0005711 congenital diaphragmatic hernia MONDO:8000030 Orphanet:2140 Orphanet:377791 obsolete morphological anomaly MONDO:0005715 congenital toxoplasmosis MONDO:0015577 Orphanet:858 Orphanet:163588 obsolete rare parasitic disease MONDO:0005715 congenital toxoplasmosis MONDO:0015659 Orphanet:858 Orphanet:166490 obsolete infectious disease with epilepsy -MONDO:0005724 cryptococcosis MONDO:0015577 Orphanet:1546 Orphanet:163588 obsolete rare parasitic disease +MONDO:0005724 cryptococcosis MONDO:0015578 Orphanet:1546 Orphanet:163591 obsolete rare mycosis MONDO:0005725 cyclosporiasis MONDO:0015577 Orphanet:210 Orphanet:163588 obsolete rare parasitic disease MONDO:0005736 eastern equine encephalitis MONDO:0015659 Orphanet:83594 Orphanet:166490 obsolete infectious disease with epilepsy MONDO:0005769 geniculate herpes zoster MONDO:0015576 Orphanet:3020 Orphanet:163585 obsolete rare viral disease @@ -1474,7 +1472,6 @@ MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0020215 Orphanet:2709 MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:0026190 Orphanet:2709 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO:8000032 Orphanet:2709 Orphanet:377789 obsolete malformation syndrome MONDO:0008397 aplasia of lacrimal and salivary glands MONDO:0020194 Orphanet:86815 Orphanet:98604 obsolete congenital alacrima -MONDO:0008401 pleomorphic adenoma MONDO:8000031 Orphanet:454821 Orphanet:557494 obsolete subtype of a disorder MONDO:0008402 cleft palate-large ears-small head syndrome MONDO:0015335 Orphanet:2013 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate MONDO:0008402 cleft palate-large ears-small head syndrome MONDO:8000032 Orphanet:2013 Orphanet:377789 obsolete malformation syndrome MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0017434 Orphanet:1003 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy @@ -3301,6 +3298,7 @@ MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:8000032 Orph MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0015510 Orphanet:60025 Orphanet:156610 obsolete rare genetic respiratory disease MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0020000 Orphanet:60025 Orphanet:97955 obsolete rare respiratory disease MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 MONDO:0015052 Orphanet:217563 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0015118 Orphanet:2038 Orphanet:101944 obsolete rare pulmonary disease MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0015221 Orphanet:2038 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0015930 Orphanet:2038 Orphanet:182111 obsolete respiratory malformation MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:0016234 Orphanet:2038 Orphanet:211266 obsolete rare arteriovenous malformation @@ -3365,7 +3363,6 @@ MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0019721 Orphanet:3032 Orp MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0022405 Orphanet:3032 Orphanet:156180 obsolete retinal ciliopathy due to mutation in nephronophthisis gene MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:8000032 Orphanet:3032 Orphanet:377789 obsolete malformation syndrome MONDO:0009970 renal tubular dysgenesis of genetic origin MONDO:8000031 Orphanet:97369 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0017016 Orphanet:70587 Orphanet:264670 obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:0020240 Orphanet:1574 Orphanet:98661 obsolete syndromic retinitis pigmentosa MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:8000032 Orphanet:1574 Orphanet:377789 obsolete malformation syndrome MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0019589 Orphanet:3085 Orphanet:90642 obsolete syndromic genetic hearing loss @@ -3650,6 +3647,7 @@ MONDO:0010261 microphthalmia, syndromic 2 MONDO:0026190 Orphanet:2712 Orphanet:1 MONDO:0010261 microphthalmia, syndromic 2 MONDO:0035863 Orphanet:2712 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010261 microphthalmia, syndromic 2 MONDO:8000032 Orphanet:2712 Orphanet:377789 obsolete malformation syndrome MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0015910 Orphanet:86818 Orphanet:182043 obsolete rare constitutional hemolytic anemia +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0035461 Orphanet:86818 Orphanet:567554 obsolete systemic disease with glomerulopathy as a major feature MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0035863 Orphanet:86818 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0015891 Orphanet:95702 Orphanet:181390 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:0035683 Orphanet:95702 Orphanet:595337 obsolete adrenal hypoplasia congenita @@ -4430,9 +4428,6 @@ MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:80 MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type MONDO:8000031 Orphanet:646136 Orphanet:557494 obsolete subtype of a disorder MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:0035863 Orphanet:3051 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:8000032 Orphanet:3051 Orphanet:377789 obsolete malformation syndrome -MONDO:0011054 autosomal recessive amelia MONDO:0017433 Orphanet:1027 Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs -MONDO:0011054 autosomal recessive amelia MONDO:8000032 Orphanet:1027 Orphanet:377789 obsolete malformation syndrome -MONDO:0011055 distal monosomy 10p MONDO:8000032 Orphanet:1580 Orphanet:377789 obsolete malformation syndrome MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:0017120 Orphanet:2163 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:0020253 Orphanet:2163 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:8000032 Orphanet:2163 Orphanet:377789 obsolete malformation syndrome @@ -5377,7 +5372,6 @@ MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:8000031 Orphanet:280288 Orp MONDO:0012830 chromosome 10q23 deletion syndrome MONDO:8000032 Orphanet:276413 Orphanet:377789 obsolete malformation syndrome MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0020254 Orphanet:93262 Orphanet:98684 obsolete craniostenosis associated with a strabismus MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:8000032 Orphanet:93262 Orphanet:377789 obsolete malformation syndrome -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0015979 Orphanet:183713 Orphanet:183710 obsolete hereditary predisposition to infections MONDO:0012853 Fontaine progeroid syndrome MONDO:0020253 Orphanet:2963 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0012853 Fontaine progeroid syndrome MONDO:0043008 Orphanet:2095 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012853 Fontaine progeroid syndrome MONDO:8000032 Orphanet:2095 Orphanet:377789 obsolete malformation syndrome @@ -5828,6 +5822,7 @@ MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0035862 Orphanet: MONDO:0013796 chromosome 17q12 duplication syndrome MONDO:8000032 Orphanet:261272 Orphanet:377789 obsolete malformation syndrome MONDO:0013797 chromosome 17q12 deletion syndrome MONDO:8000032 Orphanet:261265 Orphanet:377789 obsolete malformation syndrome MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0035863 Orphanet:658540 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:8000032 Orphanet:658540 Orphanet:377789 obsolete malformation syndrome MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MONDO:0034024 Orphanet:300179 Orphanet:536545 obsolete kyphoscoliotic Ehlers-Danlos syndrome MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MONDO:8000031 Orphanet:300179 Orphanet:557494 obsolete subtype of a disorder MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0015918 Orphanet:313850 Orphanet:182070 obsolete rare neurodegenerative disease @@ -6351,6 +6346,7 @@ MONDO:0014708 ring chromosome 14 MONDO:0018186 Orphanet:1440 Orphanet:363203 obs MONDO:0014708 ring chromosome 14 MONDO:8000032 Orphanet:1440 Orphanet:377789 obsolete malformation syndrome MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0017897 Orphanet:477857 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0017119 Orphanet:477814 Orphanet:269528 obsolete syndrome with microcephaly as major feature +MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0018035 Orphanet:477814 Orphanet:331217 obsolete syndrome with combined immunodeficiency MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0034962 Orphanet:477814 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0035862 Orphanet:477814 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:8000032 Orphanet:477814 Orphanet:377789 obsolete malformation syndrome @@ -6546,6 +6542,7 @@ MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, a MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:8000032 Orphanet:603494 Orphanet:377789 obsolete malformation syndrome MONDO:0015017 anterior segment dysgenesis 8 MONDO:8000032 Orphanet:519388 Orphanet:377789 obsolete malformation syndrome MONDO:0015021 hypotonia, ataxia, and delayed development syndrome MONDO:0035863 Orphanet:658843 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0015021 hypotonia, ataxia, and delayed development syndrome MONDO:8000032 Orphanet:658843 Orphanet:377789 obsolete malformation syndrome MONDO:0015028 48,XXYY syndrome MONDO:0015620 Orphanet:10 Orphanet:165707 obsolete syndromic urogenital tract malformation MONDO:0015028 48,XXYY syndrome MONDO:0017006 Orphanet:10 Orphanet:263749 obsolete X and Y chromosomal anomaly MONDO:0015028 48,XXYY syndrome MONDO:0035863 Orphanet:10 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -6774,10 +6771,6 @@ MONDO:0015236 aortic arch defects MONDO:0015222 Orphanet:1132 Orphanet:108995 ob MONDO:0015236 aortic arch defects MONDO:0015930 Orphanet:1132 Orphanet:182111 obsolete respiratory malformation MONDO:0015237 arrhinia MONDO:0015503 Orphanet:1134 Orphanet:156246 obsolete nose and cavum anomaly MONDO:0015237 arrhinia MONDO:8000032 Orphanet:1134 Orphanet:377789 obsolete malformation syndrome -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0015503 Orphanet:1135 Orphanet:156246 obsolete nose and cavum anomaly -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0033334 Orphanet:1135 Orphanet:435606 obsolete genetic nose and cavum anomaly -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0043008 Orphanet:1135 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:8000032 Orphanet:1135 Orphanet:377789 obsolete malformation syndrome MONDO:0015240 digitotalar dysmorphism MONDO:0043008 Orphanet:1146 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015240 digitotalar dysmorphism MONDO:8000032 Orphanet:1146 Orphanet:377789 obsolete malformation syndrome MONDO:0015241 arthrogryposis-like syndrome MONDO:8000032 Orphanet:1149 Orphanet:377789 obsolete malformation syndrome @@ -7314,7 +7307,6 @@ MONDO:0015729 mosaic trisomy 16 MONDO:0020051 Orphanet:1708 Orphanet:98131 obsol MONDO:0015729 mosaic trisomy 16 MONDO:8000032 Orphanet:1708 Orphanet:377789 obsolete malformation syndrome MONDO:0015730 mosaic trisomy 17 MONDO:0020051 Orphanet:1711 Orphanet:98131 obsolete total autosomal trisomy MONDO:0015730 mosaic trisomy 17 MONDO:8000032 Orphanet:1711 Orphanet:377789 obsolete malformation syndrome -MONDO:0015734 rectal duplication MONDO:0015211 Orphanet:171220 Orphanet:108967 obsolete non-syndromic intestinal malformation MONDO:0015734 rectal duplication MONDO:8000030 Orphanet:171220 Orphanet:377791 obsolete morphological anomaly MONDO:0015735 severe congenital nemaline myopathy MONDO:0018701 Orphanet:171430 Orphanet:457074 obsolete congenital nemaline myopathy MONDO:0015736 intermediate nemaline myopathy MONDO:0018701 Orphanet:171433 Orphanet:457074 obsolete congenital nemaline myopathy @@ -7499,6 +7491,7 @@ MONDO:0015899 obsolete rare primary hyperaldosteronism MONDO:0015124 Orphanet:18 MONDO:0015900 hypoaldosteronism disease MONDO:0015124 Orphanet:181419 Orphanet:101954 obsolete rare adrenal disease MONDO:0015901 obsolete rare inherited hyperlipidemia MONDO:0015123 Orphanet:181422 Orphanet:101953 obsolete rare inherited dyslipidemia MONDO:0015903 hyperalphalipoproteinemia MONDO:0015901 Orphanet:181428 Orphanet:181422 obsolete rare inherited hyperlipidemia +MONDO:0015903 hyperalphalipoproteinemia MONDO:0032011 Orphanet:181428 Orphanet:377790 obsolete biological anomaly MONDO:0015904 obsolete rare hypolipidemia MONDO:0015123 Orphanet:181431 Orphanet:101953 obsolete rare inherited dyslipidemia MONDO:0015905 syndromic dyslipidemia MONDO:0015123 Orphanet:181437 Orphanet:101953 obsolete rare inherited dyslipidemia MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism MONDO:0015513 Orphanet:181441 Orphanet:156638 obsolete rare genetic endocrine disease @@ -7568,7 +7561,6 @@ MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabo MONDO:0015971 obsolete rare genetic adrenal disease MONDO:0015513 Orphanet:183637 Orphanet:156638 obsolete rare genetic endocrine disease MONDO:0015972 obsolete rare constitutional anemia MONDO:0015549 Orphanet:183651 Orphanet:158300 obsolete rare genetic hematologic disease MONDO:0015975 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0000001 Orphanet:183663 Orphanet:377788 disease -MONDO:0015975 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0018814 Orphanet:183663 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0015976 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0000001 Orphanet:183666 Orphanet:377788 disease MONDO:0015976 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0018040 Orphanet:183666 Orphanet:331240 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells MONDO:0015977 agammaglobulinemia MONDO:0015132 Orphanet:183669 Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production @@ -7639,7 +7631,6 @@ MONDO:0016018 diabetic embryopathy MONDO:8000032 Orphanet:1926 Orphanet:377789 o MONDO:0016019 Rasmussen subacute encephalitis MONDO:0015657 Orphanet:1929 Orphanet:166484 obsolete inflammatory and autoimmune disease with epilepsy MONDO:0016019 Rasmussen subacute encephalitis MONDO:0020069 Orphanet:1929 Orphanet:98255 obsolete chronic encephalitis MONDO:0016020 frontal encephalocele MONDO:8000031 Orphanet:1931 Orphanet:557494 obsolete subtype of a disorder -MONDO:0016022 early myoclonic encephalopathy MONDO:0032013 Orphanet:1935 Orphanet:377792 obsolete clinical syndrome MONDO:0016025 myoclonic-astatic epilepsy MONDO:0035862 Orphanet:1942 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:0043008 Orphanet:1969 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:8000032 Orphanet:1969 Orphanet:377789 obsolete malformation syndrome @@ -8013,8 +8004,11 @@ MONDO:0016391 neonatal diabetes mellitus MONDO:0015122 Orphanet:224 Orphanet:101 MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:0017118 Orphanet:2246 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:0034953 Orphanet:2246 Orphanet:519325 obsolete syndromic inherited retinal disorder MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome MONDO:8000032 Orphanet:2246 Orphanet:377789 obsolete malformation syndrome +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0015503 Orphanet:2250 Orphanet:156246 obsolete nose and cavum anomaly MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0015890 Orphanet:2250 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0020225 Orphanet:2250 Orphanet:98641 obsolete syndromic cataract +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0033334 Orphanet:2250 Orphanet:435606 obsolete genetic nose and cavum anomaly +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0043008 Orphanet:2250 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MONDO:0020225 Orphanet:2253 Orphanet:98641 obsolete syndromic cataract MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:0016131 Orphanet:2254 Orphanet:207012 obsolete spinal muscular atrophy associated with central nervous system anomaly MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:8000032 Orphanet:2254 Orphanet:377789 obsolete malformation syndrome @@ -8791,8 +8785,6 @@ MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disabili MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:0800084 Orphanet:2779 Orphanet:93444 obsolete primary bone dysplasia with increased bone density MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:8000032 Orphanet:2779 Orphanet:377789 obsolete malformation syndrome MONDO:0017198 osteopetrosis MONDO:0800084 Orphanet:2781 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO:0019704 Orphanet:2787 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO:8000032 Orphanet:2787 Orphanet:377789 obsolete malformation syndrome MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome MONDO:0015106 Orphanet:2795 Orphanet:101433 obsolete rare urogenital disease MONDO:0017201 Spasmus nutans MONDO:0032013 Orphanet:279882 Orphanet:377792 obsolete clinical syndrome MONDO:0017201 Spasmus nutans MONDO:0034961 Orphanet:279882 Orphanet:519341 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature @@ -9811,8 +9803,6 @@ MONDO:0018209 Alexander disease type I MONDO:8000031 Orphanet:363717 Orphanet:55 MONDO:0018210 Alexander disease type II MONDO:0034962 Orphanet:363722 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement MONDO:0018210 Alexander disease type II MONDO:8000031 Orphanet:363722 Orphanet:557494 obsolete subtype of a disorder MONDO:0018211 Balint syndrome MONDO:0020009 Orphanet:363746 Orphanet:98006 obsolete rare neurologic disease -MONDO:0018212 familial cervical artery dissection MONDO:0015953 Orphanet:36382 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease -MONDO:0018212 familial cervical artery dissection MONDO:0019110 Orphanet:36382 Orphanet:71281 obsolete rare central nervous system or retinal vascular disease MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0015365 Orphanet:36386 Orphanet:140474 obsolete autosomal dominant hereditary sensory and autonomic neuropathy MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0018119 Orphanet:36386 Orphanet:352309 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0035862 Orphanet:36387 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome @@ -10204,9 +10194,6 @@ MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-pl MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0035863 Orphanet:436141 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:8000032 Orphanet:436141 Orphanet:377789 obsolete malformation syndrome MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO:0015885 Orphanet:436144 Orphanet:181368 obsolete rare insulin-resistance syndrome -MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0000001 Orphanet:436151 Orphanet:377788 disease -MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0015159 Orphanet:436151 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0018574 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0035863 Orphanet:436151 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0015885 Orphanet:436182 Orphanet:181368 obsolete rare insulin-resistance syndrome MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0019852 Orphanet:436182 Orphanet:95710 inherited primary ovarian failure MONDO:0018575 obsolete microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0034443 Orphanet:436182 Orphanet:485382 obsolete genetic non-acquired premature ovarian failure @@ -10657,7 +10644,6 @@ MONDO:0018928 obsolete rare hepatic disease MONDO:8000033 Orphanet:57146 Orphane MONDO:0018930 monosomy 21 MONDO:0020226 Orphanet:574 Orphanet:98642 obsolete chromosomal anomaly with cataract MONDO:0018930 monosomy 21 MONDO:8000032 Orphanet:574 Orphanet:377789 obsolete malformation syndrome MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:8000031 Orphanet:423461 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0015114 Orphanet:57777 Orphanet:101939 obsolete rare parenchymal liver disease MONDO:0018933 Mazabraud syndrome MONDO:0019099 Orphanet:57782 Orphanet:71209 obsolete rare soft tissue tumor MONDO:0018933 Mazabraud syndrome MONDO:0800089 Orphanet:57782 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0018933 Mazabraud syndrome MONDO:8000032 Orphanet:57782 Orphanet:377789 obsolete malformation syndrome @@ -12232,7 +12218,6 @@ MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0018400 Orphanet:99892 Orpha MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency MONDO:0017897 Orphanet:99898 Orphanet:319535 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MONDO:0020532 spirillary rat-bite fever MONDO:8000031 Orphanet:99903 Orphanet:557494 obsolete subtype of a disorder MONDO:0020533 streptobacillary rat-bite fever MONDO:8000031 Orphanet:99905 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020537 obsolete occupational allergic alveolitis MONDO:0017853 Orphanet:99909 Orphanet:31740 hypersensitivity pneumonitis MONDO:0020544 streptococcal toxic-shock syndrome MONDO:8000031 Orphanet:99918 Orphanet:557494 obsolete subtype of a disorder MONDO:0020545 staphylococcal toxic-shock syndrome MONDO:8000031 Orphanet:99919 Orphanet:557494 obsolete subtype of a disorder MONDO:0020546 acute graft versus host disease MONDO:8000031 Orphanet:99920 Orphanet:557494 obsolete subtype of a disorder @@ -12576,8 +12561,6 @@ MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0015090 Orphanet:631076 Orphanet:100982 obsolete autosomal recessive pure spastic paraplegia MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0019058 Orphanet:544488 Orphanet:68385 obsolete neurometabolic disease MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0035863 Orphanet:544488 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0019711 Orphanet:50817 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0020253 Orphanet:50817 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0035863 Orphanet:508533 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0017432 Orphanet:508542 Orphanet:294955 obsolete syndrome with limb reduction defects MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0035863 Orphanet:508542 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -13169,7 +13152,6 @@ MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy path MONDO:0044738 Gabriele de Vries syndrome MONDO:0035863 Orphanet:506358 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044738 Gabriele de Vries syndrome MONDO:8000032 Orphanet:506358 Orphanet:377789 obsolete malformation syndrome MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:8000031 Orphanet:506784 Orphanet:557494 obsolete subtype of a disorder -MONDO:0044740 salivary gland squamous cell carcinoma MONDO:8000031 Orphanet:500481 Orphanet:557494 obsolete subtype of a disorder MONDO:0044792 large congenital melanocytic nevus MONDO:0017414 Orphanet:626 Orphanet:294057 obsolete rare nevus MONDO:0044807 inherited dystonia MONDO:0034641 Orphanet:391799 Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0018284 Orphanet:435934 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement @@ -13476,7 +13458,7 @@ MONDO:0859219 Rauch-Steindl syndrome MONDO:0015329 Orphanet:659642 Orphanet:1390 MONDO:0859219 Rauch-Steindl syndrome MONDO:0017119 Orphanet:659642 Orphanet:269528 obsolete syndrome with microcephaly as major feature MONDO:0859219 Rauch-Steindl syndrome MONDO:0026187 Orphanet:659642 Orphanet:183570 obsolete genetic malformation syndrome with short stature MONDO:0859219 Rauch-Steindl syndrome MONDO:0035863 Orphanet:659642 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0859219 Rauch-Steindl syndrome MONDO:8000031 Orphanet:659642 Orphanet:557494 obsolete subtype of a disorder +MONDO:0859219 Rauch-Steindl syndrome MONDO:8000032 Orphanet:659642 Orphanet:377789 obsolete malformation syndrome MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0018265 Orphanet:660017 Orphanet:370106 obsolete rare disorder with dystonia and other neurologic or systemic manifestation MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0035862 Orphanet:660017 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities MONDO:0017120 Orphanet:662189 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index 5940c11d..e9e65761 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -301,6 +301,7 @@ MONDO:0009650 mucolipidosis type II MONDO:0015159 Orphanet:576 Orphanet:102283 m MONDO:0009652 GNPTG-mucolipidosis MONDO:0018931 Orphanet:423470 Orphanet:577 mucolipidosis type III, alpha/beta MONDO:0009668 lethal multiple pterygium syndrome MONDO:0043009 Orphanet:33108 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0009685 Miyoshi myopathy MONDO:0016145 Orphanet:45448 Orphanet:207073 qualitative or quantitative defects of dysferlin +MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017704 Orphanet:307 Orphanet:309 familial partial epilepsy MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:0018889 Orphanet:636970 Orphanet:53698 hyaline body myopathy MONDO:0009710 Thomsen and Becker disease MONDO:0957112 Orphanet:614 Orphanet:98739 neurological muscular channelopathy due to a genetic chloride channel defect MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0016193 Orphanet:2020 Orphanet:209059 qualitative or quantitative defects of alpha-actin @@ -672,7 +673,6 @@ MONDO:0014017 intellectual developmental disorder with autism and macrocephaly M MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0009637 Orphanet:352447 Orphanet:206966 inborn mitochondrial myopathy MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0018121 Orphanet:352447 Orphanet:352456 mitochondrial DNA maintenance syndrome MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0015159 Orphanet:289553 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0018814 Orphanet:357329 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0015159 Orphanet:363528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0034021 Orphanet:536467 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0020074 Orphanet:352709 Orphanet:98261 progressive myoclonus epilepsy @@ -681,7 +681,6 @@ MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0020087 Or MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0019787 Orphanet:397959 Orphanet:94075 autoimmune enteropathy MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0015338 Orphanet:369837 Orphanet:139393 syndromic craniosynostosis MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0957111 Orphanet:371364 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0018814 Orphanet:397964 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014226 idiopathic CD4 lymphocytopenia MONDO:0018814 Orphanet:228000 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014243 Schaaf-Yang syndrome MONDO:0018354 Orphanet:398069 Orphanet:398073 Prader-Willi-like syndrome MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0015356 Orphanet:431149 Orphanet:140162 hereditary neoplastic syndrome @@ -712,7 +711,6 @@ MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and deve MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0957111 Orphanet:562528 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0015159 Orphanet:457212 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0004907 Orphanet:443995 Orphanet:79364 alopecia -MONDO:0014637 DOCK2 deficiency MONDO:0018814 Orphanet:447737 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014645 BENTA disease MONDO:0018814 Orphanet:464336 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014705 craniosynostosis 6 MONDO:0015338 Orphanet:672985 Orphanet:139393 syndromic craniosynostosis MONDO:0014707 14q32 duplication syndrome MONDO:0020076 Orphanet:488280 Orphanet:98274 myeloproliferative neoplasm @@ -722,14 +720,12 @@ MONDO:0014722 Roifman syndrome MONDO:0015708 Orphanet:353298 Orphanet:169349 imm MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0015159 Orphanet:477817 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014746 SLC39A8-CDG MONDO:0017766 Orphanet:468699 Orphanet:309851 disorder of manganese transport MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:0011119 Orphanet:488197 Orphanet:98634 iridogoniodysgenesis -MONDO:0014760 TFRC-related combined immunodeficiency MONDO:0018814 Orphanet:476113 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014778 Lamb-Shaffer syndrome MONDO:0015159 Orphanet:530983 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014791 Luscan-Lumish syndrome MONDO:0015159 Orphanet:597738 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014791 Luscan-Lumish syndrome MONDO:0019716 Orphanet:597738 Orphanet:93460 overgrowth syndrome MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome MONDO:0850064 Orphanet:488647 Orphanet:619340 inherited hematologic cancer-predisposing syndrome MONDO:0014821 complex lethal osteochondrodysplasia MONDO:0005308 Orphanet:457378 Orphanet:363250 ciliopathy MONDO:0014822 15q14 microdeletion syndrome MONDO:0958091 Orphanet:261190 Orphanet:652519 cleft palate-congenital heart defect-intellectual disability syndrome -MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015653 Orphanet:488613 Orphanet:166472 monogenic epilepsy MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:0015159 Orphanet:494344 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014867 spinocerebellar ataxia 43 MONDO:0019792 Orphanet:497764 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0005308 Orphanet:464366 Orphanet:363250 ciliopathy @@ -798,8 +794,6 @@ MONDO:0016006 Cockayne syndrome MONDO:0015159 Orphanet:191 Orphanet:102283 multi MONDO:0016006 Cockayne syndrome MONDO:0024237 Orphanet:191 Orphanet:183500 inherited neurodegenerative disorder MONDO:0016018 diabetic embryopathy MONDO:0016330 Orphanet:1926 Orphanet:217598 non-familial hypertrophic cardiomyopathy MONDO:0016018 diabetic embryopathy MONDO:0019716 Orphanet:1926 Orphanet:93460 overgrowth syndrome -MONDO:0016022 early myoclonic encephalopathy MONDO:0016801 Orphanet:1935 Orphanet:254830 mitochondrial substrate carrier disorder -MONDO:0016022 early myoclonic encephalopathy MONDO:0020070 Orphanet:1935 Orphanet:98257 neonatal epilepsy syndrome MONDO:0016056 isolated congenital microcephaly MONDO:0957008 Orphanet:199642 Orphanet:269553 hereditary cerebral malformation MONDO:0016063 Cowden disease MONDO:0015185 Orphanet:201 Orphanet:104010 intestinal polyposis syndrome MONDO:0016063 Cowden disease MONDO:0017623 Orphanet:201 Orphanet:306498 PTEN hamartoma tumor syndrome @@ -821,6 +815,7 @@ MONDO:0016364 Joubert syndrome with ocular defect MONDO:0015159 Orphanet:220493 MONDO:0016364 Joubert syndrome with ocular defect MONDO:0022410 Orphanet:220493 Orphanet:156165 retinal ciliopathy MONDO:0016366 maternal phenylketonuria MONDO:0015159 Orphanet:2209 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0015159 Orphanet:2233 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0015161 Orphanet:2250 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0015159 Orphanet:2266 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016414 hypotrichosis-intellectual disability, Lopes type MONDO:0019287 Orphanet:2266 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0013266 Orphanet:228384 Orphanet:664410 intellectual disability, autosomal dominant 20 @@ -1255,6 +1250,7 @@ MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015159 Orphanet:610569 Orphanet MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0015168 Orphanet:610569 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0060707 Ververi-Brady syndrome MONDO:0015159 Orphanet:580940 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0015159 Orphanet:662829 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0018037 Orphanet:662829 Orphanet:331223 hyper-IgE syndrome MONDO:0100062 developmental and epileptic encephalopathy MONDO:0020070 Orphanet:1934 Orphanet:98257 neonatal epilepsy syndrome MONDO:0100133 mitochondrial complex I deficiency MONDO:0009637 Orphanet:2609 Orphanet:206966 inborn mitochondrial myopathy MONDO:0100147 SATB2 associated disorder MONDO:0015159 Orphanet:576278 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability diff --git a/src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv index 5701f335..83166f64 100644 --- a/src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed-direct-source-indirect-mondo.robot.tsv @@ -34,7 +34,6 @@ MONDO:0001734 tuberous sclerosis MONDO:0000001 Orphanet:805 Orphanet:377788 dise MONDO:0001881 toxic shock syndrome MONDO:0000001 Orphanet:36234 Orphanet:377788 disease MONDO:0001945 postencephalitic Parkinson disease MONDO:0000001 Orphanet:97349 Orphanet:377788 disease MONDO:0001956 capillary leak syndrome MONDO:0000001 Orphanet:188 Orphanet:377788 disease -MONDO:0001971 farmer's lung disease MONDO:0000001 Orphanet:99906 Orphanet:377788 disease MONDO:0002096 malignant conjunctival melanoma MONDO:0000001 Orphanet:617910 Orphanet:377788 disease MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0000001 Orphanet:2023 Orphanet:377788 disease MONDO:0002158 fallopian tube cancer MONDO:0000001 Orphanet:180242 Orphanet:377788 disease @@ -170,7 +169,6 @@ MONDO:0005645 ancylostomiasis MONDO:0000001 Orphanet:78 Orphanet:377788 disease MONDO:0005657 aspergillosis MONDO:0000001 Orphanet:1163 Orphanet:377788 disease MONDO:0005661 babesiosis MONDO:0000001 Orphanet:108 Orphanet:377788 disease MONDO:0005662 balantidiasis MONDO:0000001 Orphanet:1223 Orphanet:377788 disease -MONDO:0005668 bird fancier's lung MONDO:0000001 Orphanet:99908 Orphanet:377788 disease MONDO:0005674 bone giant cell tumor MONDO:0000001 Orphanet:363976 Orphanet:377788 disease MONDO:0005683 brucellosis MONDO:0000001 Orphanet:1304 Orphanet:377788 disease MONDO:0005692 cat-scratch disease MONDO:0000001 Orphanet:50839 Orphanet:377788 disease @@ -430,7 +428,6 @@ MONDO:0007735 congenital Horner syndrome MONDO:0000001 Orphanet:91413 Orphanet:3 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0000001 Orphanet:263463 Orphanet:377788 disease MONDO:0007739 Huntington disease MONDO:0000001 Orphanet:399 Orphanet:377788 disease MONDO:0007740 Wagner disease MONDO:0000001 Orphanet:898 Orphanet:377788 disease -MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0000001 Orphanet:79506 Orphanet:377788 disease MONDO:0007747 isolated hyperchlorhidrosis MONDO:0000001 Orphanet:542657 Orphanet:377788 disease MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0000001 Orphanet:409 Orphanet:377788 disease MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0000001 Orphanet:1336 Orphanet:377788 disease @@ -1072,7 +1069,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0016789 Orphanet:766 MONDO:0009958 adult Refsum disease MONDO:0000001 Orphanet:773 Orphanet:377788 disease MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0000001 Orphanet:140969 Orphanet:377788 disease MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0019691 Orphanet:140969 Orphanet:93426 short rib dysplasia -MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0000001 Orphanet:70587 Orphanet:377788 disease MONDO:0009973 reticular dysgenesis MONDO:0000001 Orphanet:33355 Orphanet:377788 disease MONDO:0009975 reticulum cell sarcoma MONDO:0000001 Orphanet:86900 Orphanet:377788 disease MONDO:0009979 reticular dystrophy of the retinal pigment epithelium MONDO:0000001 Orphanet:99002 Orphanet:377788 disease @@ -1327,7 +1323,6 @@ MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0000001 Orphanet:64751 Or MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0000001 Orphanet:100988 Orphanet:377788 disease MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0000001 Orphanet:3387 Orphanet:377788 disease MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0000001 Orphanet:101046 Orphanet:377788 disease -MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type MONDO:0000001 Orphanet:163662 Orphanet:377788 disease MONDO:0010907 familial hypertryptophanemia MONDO:0000001 Orphanet:2224 Orphanet:377788 disease MONDO:0010908 loose anagen syndrome MONDO:0000001 Orphanet:168 Orphanet:377788 disease @@ -1809,7 +1804,6 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0015650 Orphan MONDO:0012815 Coats plus syndrome MONDO:0000001 Orphanet:313838 Orphanet:377788 disease MONDO:0012817 Ewing sarcoma MONDO:0000001 Orphanet:319 Orphanet:377788 disease MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0000001 Orphanet:209916 Orphanet:377788 disease -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0000001 Orphanet:183713 Orphanet:377788 disease MONDO:0012856 Birk-Barel syndrome MONDO:0000001 Orphanet:166108 Orphanet:377788 disease MONDO:0012858 primary CD59 deficiency MONDO:0000001 Orphanet:169464 Orphanet:377788 disease MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0000001 Orphanet:178389 Orphanet:377788 disease @@ -2005,7 +1999,6 @@ MONDO:0013772 Huppke-Brendel syndrome MONDO:0000001 Orphanet:300313 Orphanet:377 MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0000001 Orphanet:436169 Orphanet:377788 disease MONDO:0013776 spastic ataxia 5 MONDO:0000001 Orphanet:313772 Orphanet:377788 disease MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0000001 Orphanet:300536 Orphanet:377788 disease -MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0000001 Orphanet:658540 Orphanet:377788 disease MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0000001 Orphanet:313850 Orphanet:377788 disease MONDO:0013803 leukoencephalopathy with calcifications and cysts MONDO:0000001 Orphanet:542310 Orphanet:377788 disease MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0000001 Orphanet:313846 Orphanet:377788 disease @@ -2337,7 +2330,6 @@ MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0000001 Orphanet:480682 Orphanet:377788 disease MONDO:0015004 dystonia 28, childhood-onset MONDO:0000001 Orphanet:589618 Orphanet:377788 disease MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0000001 Orphanet:508529 Orphanet:377788 disease -MONDO:0015021 hypotonia, ataxia, and delayed development syndrome MONDO:0000001 Orphanet:658843 Orphanet:377788 disease MONDO:0015027 familial isolated hyperparathyroidism MONDO:0000001 Orphanet:99879 Orphanet:377788 disease MONDO:0015031 extraneural perineurioma MONDO:0000001 Orphanet:100002 Orphanet:377788 disease MONDO:0015032 intraneural perineurioma MONDO:0000001 Orphanet:100003 Orphanet:377788 disease @@ -2487,8 +2479,6 @@ MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:00 MONDO:0015634 isolated osteopoikilosis MONDO:0000001 Orphanet:166119 Orphanet:377788 disease MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0000001 Orphanet:166286 Orphanet:377788 disease MONDO:0015636 dirofilariasis MONDO:0000001 Orphanet:166291 Orphanet:377788 disease -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures MONDO:0000001 Orphanet:166299 Orphanet:377788 disease -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy MONDO:0000001 Orphanet:166302 Orphanet:377788 disease MONDO:0015640 benign infantile seizures associated with mild gastroenteritis MONDO:0000001 Orphanet:166305 Orphanet:377788 disease MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0000001 Orphanet:166308 Orphanet:377788 disease MONDO:0015643 photosensitive epilepsy MONDO:0000001 Orphanet:166409 Orphanet:377788 disease @@ -3075,6 +3065,7 @@ MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:316 Orphanet MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:317 Orphanet:377788 disease MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0000001 Orphanet:3173 Orphanet:377788 disease MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0015650 Orphanet:3173 Orphanet:166463 epilepsy syndrome +MONDO:0017853 hypersensitivity pneumonitis MONDO:0000001 Orphanet:31740 Orphanet:377788 disease MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0000001 Orphanet:3175 Orphanet:377788 disease MONDO:0017858 acute erythroid leukemia MONDO:0000001 Orphanet:318 Orphanet:377788 disease MONDO:0017860 methanol poisoning MONDO:0000001 Orphanet:31825 Orphanet:377788 disease @@ -3238,7 +3229,6 @@ MONDO:0018199 new-onset refractory status epilepticus MONDO:0000001 Orphanet:363 MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0000001 Orphanet:363618 Orphanet:377788 disease MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0000001 Orphanet:363677 Orphanet:377788 disease MONDO:0018211 Balint syndrome MONDO:0000001 Orphanet:363746 Orphanet:377788 disease -MONDO:0018212 familial cervical artery dissection MONDO:0000001 Orphanet:36382 Orphanet:377788 disease MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0000001 Orphanet:36386 Orphanet:377788 disease MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0000001 Orphanet:36387 Orphanet:377788 disease MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0000001 Orphanet:363969 Orphanet:377788 disease @@ -3564,7 +3554,6 @@ MONDO:0018927 SUNCT syndrome MONDO:0000001 Orphanet:57145 Orphanet:377788 diseas MONDO:0018929 medial condensing osteitis of the clavicle MONDO:0000001 Orphanet:57196 Orphanet:377788 disease MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0000001 Orphanet:577 Orphanet:377788 disease MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0019248 Orphanet:577 Orphanet:79212 mucolipidosis -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0000001 Orphanet:57777 Orphanet:377788 disease MONDO:0018935 hairy cell leukemia MONDO:0000001 Orphanet:58017 Orphanet:377788 disease MONDO:0018935 hairy cell leukemia MONDO:0017594 Orphanet:58017 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0018936 osteoblastoma MONDO:0000001 Orphanet:58040 Orphanet:377788 disease @@ -3591,7 +3580,6 @@ MONDO:0018974 paraneoplastic pemphigus MONDO:0000001 Orphanet:63455 Orphanet:377 MONDO:0018975 neurofibromatosis type 1 MONDO:0000001 Orphanet:636 Orphanet:377788 disease MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0000001 Orphanet:639 Orphanet:377788 disease MONDO:0018979 multifocal motor neuropathy MONDO:0000001 Orphanet:641 Orphanet:377788 disease -MONDO:0018981 benign idiopathic neonatal seizures MONDO:0000001 Orphanet:64545 Orphanet:377788 disease MONDO:0018982 Niemann-Pick disease type C MONDO:0000001 Orphanet:646 Orphanet:377788 disease MONDO:0018982 Niemann-Pick disease type C MONDO:0019245 Orphanet:646 Orphanet:79204 lysosomal lipid storage disorder MONDO:0018983 Tolosa-Hunt syndrome MONDO:0000001 Orphanet:64686 Orphanet:377788 disease @@ -4025,7 +4013,6 @@ MONDO:0020513 spermatocytic seminoma MONDO:0010108 Orphanet:99865 Orphanet:36350 MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0000001 Orphanet:99869 Orphanet:377788 disease MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0018079 Orphanet:99869 Orphanet:3398 thymic epithelial neoplasm MONDO:0020527 ectopic Cushing syndrome MONDO:0000001 Orphanet:99889 Orphanet:377788 disease -MONDO:0020535 house allergic alveolitis MONDO:0000001 Orphanet:99907 Orphanet:377788 disease MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary MONDO:0000001 Orphanet:99912 Orphanet:377788 disease MONDO:0020540 ovarian gynandroblastoma MONDO:0000001 Orphanet:99914 Orphanet:377788 disease MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0000001 Orphanet:99915 Orphanet:377788 disease @@ -4149,7 +4136,6 @@ MONDO:0033482 spinocerebellar ataxia 47 MONDO:0000001 Orphanet:642747 Orphanet:3 MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:0000001 Orphanet:641353 Orphanet:377788 disease MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0000001 Orphanet:631076 Orphanet:377788 disease MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0000001 Orphanet:544488 Orphanet:377788 disease -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0000001 Orphanet:50817 Orphanet:377788 disease MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0000001 Orphanet:508533 Orphanet:377788 disease MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0000001 Orphanet:508542 Orphanet:377788 disease MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation MONDO:0000001 Orphanet:512260 Orphanet:377788 disease diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index 1884cf85..b380974a 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -320,7 +320,6 @@ MONDO:0007725 hereditary progressive mucinous histiocytosis MONDO:0015531 Orphan MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017953 Orphanet:32960 Orphanet:324924 hereditary periodic fever syndrome MONDO:0007732 Holt-Oram syndrome MONDO:0015161 Orphanet:392 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007732 Holt-Oram syndrome MONDO:0016432 Orphanet:392 Orphanet:228184 heart-hand syndrome -MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0015903 Orphanet:79506 Orphanet:181428 hyperalphalipoproteinemia MONDO:0007747 isolated hyperchlorhidrosis MONDO:0021026 Orphanet:542657 Orphanet:183447 hereditary epidermal appendage anomaly MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0019289 Orphanet:1336 Orphanet:79375 hyperpigmentation of the skin MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0016365 Orphanet:99880 Orphanet:2207 familial primary hyperparathyroidism @@ -466,7 +465,6 @@ MONDO:0008371 Dowling-Degos disease MONDO:0017747 Orphanet:79145 Orphanet:309505 MONDO:0008371 Dowling-Degos disease MONDO:0019289 Orphanet:79145 Orphanet:79375 hyperpigmentation of the skin MONDO:0008389 autosomal dominant Robinow syndrome MONDO:0019978 Orphanet:3107 Orphanet:97360 Robinow syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 Orphanet:353277 Orphanet:783 Rubinstein-Taybi syndrome -MONDO:0008401 pleomorphic adenoma MONDO:0017168 Orphanet:454821 Orphanet:276148 benign epithelial tumor of salivary glands MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0019294 Orphanet:1003 Orphanet:79380 mixed dermis disorder MONDO:0008404 scalp-ear-nipple syndrome MONDO:0015161 Orphanet:2036 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019287 Orphanet:2036 Orphanet:79373 ectodermal dysplasia syndrome @@ -966,7 +964,6 @@ MONDO:0009691 mycosis fungoides MONDO:0015821 Orphanet:2584 Orphanet:178566 myco MONDO:0009692 primary myelofibrosis MONDO:0015610 Orphanet:824 Orphanet:164823 acquired aplastic anemia MONDO:0009692 primary myelofibrosis MONDO:0020076 Orphanet:824 Orphanet:98274 myeloproliferative neoplasm MONDO:0009693 plasma cell myeloma MONDO:0004959 Orphanet:29073 Orphanet:98282 plasma cell neoplasm -MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017704 Orphanet:307 Orphanet:309 familial partial epilepsy MONDO:0009697 Lafora disease MONDO:0020074 Orphanet:501 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 Orphanet:308 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MONDO:0015515 Orphanet:228302 Orphanet:157 carnitine palmitoyltransferase II deficiency @@ -1337,6 +1334,7 @@ MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0015 MONDO:0010886 2q37 microdeletion syndrome MONDO:0016901 Orphanet:1001 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0019280 Orphanet:3387 Orphanet:79365 hypertrichosis MONDO:0010890 acrocardiofacial syndrome MONDO:0015159 Orphanet:2008 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy MONDO:0010907 familial hypertryptophanemia MONDO:0017350 Orphanet:2224 Orphanet:289829 inborn disorder of tryptophan metabolism MONDO:0010908 loose anagen syndrome MONDO:0004907 Orphanet:168 Orphanet:79364 alopecia MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:0015515 Orphanet:228305 Orphanet:157 carnitine palmitoyltransferase II deficiency @@ -2020,7 +2018,6 @@ MONDO:0014072 D,L-2-hydroxyglutaric aciduria MONDO:0016001 Orphanet:356978 Orpha MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0019548 Orphanet:352670 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0018869 Orphanet:352682 Orphanet:51577 cobblestone lissencephaly MONDO:0014080 osteosclerotic metaphyseal dysplasia MONDO:0017198 Orphanet:500548 Orphanet:2781 osteopetrosis -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0044201 Orphanet:357237 Orphanet:397802 T+ B+ severe combined immunodeficiency MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0020212 Orphanet:352662 Orphanet:98625 superficial corneal dystrophy MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0020099 Orphanet:300298 Orphanet:98362 inherited sideroblastic anemia MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0020088 Orphanet:435651 Orphanet:98306 familial partial lipodystrophy @@ -2056,7 +2053,6 @@ MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MOND MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0019942 Orphanet:370943 Orphanet:97120 distal arthrogryposis MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0015159 Orphanet:508488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0016907 Orphanet:508488 Orphanet:262065 partial deletion of the long arm of chromosome 8 -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0044201 Orphanet:397787 Orphanet:397802 T+ B+ severe combined immunodeficiency MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0017740 Orphanet:370921 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0017740 Orphanet:370924 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0015159 Orphanet:397951 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -2200,6 +2196,7 @@ MONDO:0014837 thrombocytopenia 6 MONDO:0018795 Orphanet:480851 Orphanet:477794 s MONDO:0014837 thrombocytopenia 6 MONDO:0020076 Orphanet:480851 Orphanet:98274 myeloproliferative neoplasm MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0018446 Orphanet:404493 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0015159 Orphanet:488642 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015653 Orphanet:488613 Orphanet:166472 monogenic epilepsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0017766 Orphanet:521406 Orphanet:309851 disorder of manganese transport MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0028226 Orphanet:420702 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0015929 Orphanet:464366 Orphanet:182108 thoracic malformation @@ -2293,7 +2290,6 @@ MONDO:0015231 Bartter syndrome MONDO:0015962 Orphanet:112 Orphanet:183592 inheri MONDO:0015233 caudal appendage-deafness syndrome MONDO:0015159 Orphanet:1123 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0015159 Orphanet:1129 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015236 aortic arch defects MONDO:0020292 Orphanet:1132 Orphanet:98724 congenital anomaly of the great arteries -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0015161 Orphanet:1135 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015239 abnormal origin of the pulmonary artery MONDO:0016581 Orphanet:1138 Orphanet:2445 conotruncal heart malformations MONDO:0015240 digitotalar dysmorphism MONDO:0015161 Orphanet:1146 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015240 digitotalar dysmorphism MONDO:0019942 Orphanet:1146 Orphanet:97120 distal arthrogryposis @@ -2445,9 +2441,6 @@ MONDO:0015629 von Willebrand disease type 2B MONDO:0013304 Orphanet:166087 Orpha MONDO:0015630 von Willebrand disease type 2M MONDO:0013304 Orphanet:166090 Orphanet:166081 von Willebrand disease 2 MONDO:0015631 von Willebrand disease type 2N MONDO:0013304 Orphanet:166093 Orphanet:166081 von Willebrand disease 2 MONDO:0015636 dirofilariasis MONDO:0016075 Orphanet:166291 Orphanet:2034 filariasis -MONDO:0015637 benign non-familial infantile seizures MONDO:0015642 Orphanet:166295 Orphanet:166311 benign partial infantile seizures -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures MONDO:0015637 Orphanet:166299 Orphanet:166295 benign non-familial infantile seizures -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy MONDO:0015637 Orphanet:166302 Orphanet:166295 benign non-familial infantile seizures MONDO:0015640 benign infantile seizures associated with mild gastroenteritis MONDO:0015642 Orphanet:166305 Orphanet:166311 benign partial infantile seizures MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0015642 Orphanet:166308 Orphanet:166311 benign partial infantile seizures MONDO:0015642 benign partial infantile seizures MONDO:0020071 Orphanet:166311 Orphanet:98258 infantile epilepsy syndrome @@ -3748,8 +3741,6 @@ MONDO:0018924 microphthalmia, Lenz type MONDO:0016073 Orphanet:568 Orphanet:2029 MONDO:0018927 SUNCT syndrome MONDO:0015530 Orphanet:57145 Orphanet:157843 trigeminal autonomic cephalalgia MONDO:0018929 medial condensing osteitis of the clavicle MONDO:0018381 Orphanet:57196 Orphanet:399319 osteochondrosis MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0800088 Orphanet:577 Orphanet:93448 lysosomal storage disease with skeletal involvement -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0016330 Orphanet:57777 Orphanet:217598 non-familial hypertrophic cardiomyopathy -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0016338 Orphanet:57777 Orphanet:217629 non-familial dilated cardiomyopathy MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019249 Orphanet:581 Orphanet:79213 mucopolysaccharidosis MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0019249 Orphanet:582 Orphanet:79213 mucopolysaccharidosis MONDO:0018941 furuncular myiasis MONDO:0020568 Orphanet:591 Orphanet:99983 cutaneous myiasis @@ -3769,7 +3760,6 @@ MONDO:0018974 paraneoplastic pemphigus MONDO:0019337 Orphanet:63455 Orphanet:796 MONDO:0018975 neurofibromatosis type 1 MONDO:0021060 Orphanet:636 Orphanet:536391 RASopathy MONDO:0018978 IgG4-related mediastinitis MONDO:0017287 Orphanet:63999 Orphanet:596448 IgG4-related disease MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:0018237 Orphanet:64542 Orphanet:364574 acrofacial dysostosis -MONDO:0018981 benign idiopathic neonatal seizures MONDO:0020070 Orphanet:64545 Orphanet:98257 neonatal epilepsy syndrome MONDO:0018992 IgG4-related thyroid disease MONDO:0017287 Orphanet:64744 Orphanet:596448 IgG4-related disease MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0015626 Orphanet:64747 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020127 Orphanet:64753 Orphanet:98497 hereditary peripheral neuropathy @@ -4374,7 +4364,6 @@ MONDO:0020526 acute megakaryoblastic leukemia in down syndrome MONDO:0018872 Orp MONDO:0020527 ectopic Cushing syndrome MONDO:0020528 Orphanet:99889 Orphanet:99892 ACTH-dependent Cushing syndrome MONDO:0020532 spirillary rat-bite fever MONDO:0006941 Orphanet:99903 Orphanet:31205 rat-bite fever MONDO:0020533 streptobacillary rat-bite fever MONDO:0006941 Orphanet:99905 Orphanet:31205 rat-bite fever -MONDO:0020535 house allergic alveolitis MONDO:0017853 Orphanet:99907 Orphanet:31740 hypersensitivity pneumonitis MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary MONDO:0018171 Orphanet:99912 Orphanet:35807 malignant germ cell tumor of ovary MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor MONDO:0018201 Orphanet:99913 Orphanet:363579 extragonadal germ cell tumor MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0018172 Orphanet:99915 Orphanet:35808 malignant sex cord stromal tumor of ovary @@ -4601,7 +4590,6 @@ MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephro MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0024237 Orphanet:505242 Orphanet:183500 inherited neurodegenerative disorder MONDO:0044738 Gabriele de Vries syndrome MONDO:0015159 Orphanet:506358 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:0019810 Orphanet:506784 Orphanet:95455 toxic epidermal necrolysis -MONDO:0044740 salivary gland squamous cell carcinoma MONDO:0017167 Orphanet:500481 Orphanet:276145 malignant epithelial tumor of salivary glands MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0004952 Orphanet:86893 Orphanet:98293 Hodgkins lymphoma MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0018215 Orphanet:623626 Orphanet:36388 paraneoplastic neurologic syndrome MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0017750 Orphanet:435934 Orphanet:309568 defect in conserved oligomeric Golgi complex diff --git a/src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv b/src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv index 33d8e05e..9507a96f 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed-direct-source-indirect-mondo.tsv @@ -1382,7 +1382,6 @@ MONDO:0008582 tooth and nail syndrome MONDO:0002254 DOID:6678 DOID:225 syndromic MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO:0004335 DOID:0080171 DOID:77 digestive system disorder MONDO:0008592 tricho-dento-osseous syndrome MONDO:0002254 DOID:0111565 DOID:225 syndromic disease MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0002254 DOID:14743 DOID:225 syndromic disease -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0002254 DOID:0080376 DOID:225 syndromic disease MONDO:0008627 ureter cancer MONDO:0001926 DOID:11819 DOID:1426 ureteral disorder MONDO:0008633 Muckle-Wells syndrome MONDO:0002254 DOID:0050854 DOID:225 syndromic disease MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0005385 DOID:0111567 DOID:178 vascular disorder @@ -1552,7 +1551,6 @@ MONDO:0009693 plasma cell myeloma MONDO:0004805 DOID:9538 DOID:9500 leukocyte di MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0002525 DOID:0090129 DOID:3146 inherited lipid metabolism disorder MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:0019952 DOID:0080102 DOID:0081337 congenital myopathy MONDO:0009725 nemaline myopathy 2 MONDO:0018958 DOID:0110928 DOID:3191 nemaline myopathy -MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0002254 DOID:0060913 DOID:225 syndromic disease MONDO:0009735 Netherton syndrome MONDO:0005093 DOID:0050474 DOID:37 skin disorder MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000421 DOID:0080076 DOID:0050721 inborn serine deficiency MONDO:0009737 galactosialidosis MONDO:0002561 DOID:0080540 DOID:3211 lysosomal storage disease @@ -1876,6 +1874,7 @@ MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome MONDO:0002254 DOI MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0000761 DOID:0060410 DOID:0060388 syndrome caused by partial chromosomal deletion MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0004976 DOID:0060198 DOID:332 amyotrophic lateral sclerosis MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0004976 DOID:0060199 DOID:332 amyotrophic lateral sclerosis +MONDO:0011959 sweet syndrome MONDO:0005093 DOID:0080746 DOID:37 skin disorder MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B MONDO:0015364 DOID:0070148 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0015131 DOID:0112064 DOID:0111962 combined immunodeficiency MONDO:0011992 hereditary spastic paraplegia 25 MONDO:0019064 DOID:0110776 DOID:2476 hereditary spastic paraplegia @@ -2923,7 +2922,6 @@ MONDO:0100522 hypotrichosis 4 MONDO:0003037 DOID:0110701 DOID:4535 hypotrichosis MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 DOID:0070246 DOID:11726 Emery-Dreifuss muscular dystrophy MONDO:0700081 newborn respiratory distress syndrome MONDO:0021113 DOID:12716 DOID:11162 respiratory failure MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0003441 DOID:0090049 DOID:543 dystonic disorder -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy MONDO:0800029 interstitial lung disease 2 MONDO:0015925 DOID:0060971 DOID:3082 interstitial lung disease MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0002049 DOID:0090102 DOID:1588 thrombocytopenia MONDO:0800368 cardiomyopathy, dilated, 1MM MONDO:0005021 DOID:0081158 DOID:12930 dilated cardiomyopathy @@ -2933,6 +2931,7 @@ MONDO:0850154 tongue carcinoma MONDO:0004993 DOID:0080641 DOID:305 carcinoma MONDO:0850345 lung pleomorphic carcinoma MONDO:0008903 DOID:0080899 DOID:1324 lung cancer MONDO:0850347 bladder sarcomatoid transitional cell carcinoma MONDO:0001187 DOID:0080901 DOID:11054 urinary bladder cancer MONDO:0850415 rhabdomyolysis-myalgia syndrome MONDO:0005336 DOID:0080992 DOID:423 myopathy +MONDO:0850416 autoimmune epilepsy MONDO:0005027 DOID:0080994 DOID:1826 epilepsy MONDO:0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype MONDO:0100342 DOID:0081277 DOID:3070 malignant glioma MONDO:0858950 traumatic brain injury MONDO:0005560 DOID:0081292 DOID:936 brain disorder MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0005093 DOID:0070510 DOID:37 skin disorder @@ -3539,6 +3538,7 @@ MONDO:0021281 cavernous hemangioma of retina MONDO:0003155 NCIT:C4921 NCIT:C3086 MONDO:0021281 cavernous hemangioma of retina MONDO:0021453 NCIT:C4921 NCIT:C3624 benign neoplasm of retina MONDO:0021301 adenoma of nipple MONDO:0004972 NCIT:C4192 NCIT:C2855 adenoma MONDO:0021301 adenoma of nipple MONDO:0036976 NCIT:C4192 NCIT:C4092 benign epithelial neoplasm +MONDO:0021313 eyelid cancer MONDO:0002235 NCIT:C6786 NCIT:C3031 eyelid neoplasm MONDO:0021333 carcinoma of lip MONDO:0023644 NCIT:C3490 NCIT:C9315 lip and oral cavity carcinoma MONDO:0021427 squamous cell carcinoma of lip MONDO:0044710 NCIT:C4042 NCIT:C42690 lip and oral cavity squamous cell carcinoma MONDO:0021440 benign neoplasm of skin MONDO:0005165 NCIT:C2896 NCIT:C3677 benign neoplasm @@ -4157,7 +4157,6 @@ MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:00 MONDO:0014083 agammaglobulinemia 7, autosomal recessive MONDO:0015977 OMIM:615214 OMIMPS:601495 agammaglobulinemia MONDO:0014086 osteogenesis imperfecta type 15 MONDO:0019019 OMIM:615220 OMIMPS:166200 osteogenesis imperfecta MONDO:0014090 polydactyly, postaxial, type A6 MONDO:0020927 OMIM:615226 OMIMPS:174200 postaxial polydactyly -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014099 nephrotic syndrome, type 8 MONDO:0002350 OMIM:615244 OMIMPS:256300 familial nephrotic syndrome MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia MONDO:0018555 OMIM:615266 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia MONDO:0018555 OMIM:615267 OMIMPS:147950 hypogonadotropic hypogonadism @@ -4410,11 +4409,11 @@ MONDO:0100522 hypotrichosis 4 MONDO:0003037 OMIM:146550 OMIMPS:605389 hypotricho MONDO:0100531 Emery-Dreifuss muscular dystrophy 1, X-linked MONDO:0016830 OMIM:310300 OMIMPS:310300 Emery-Dreifuss muscular dystrophy MONDO:0700087 Usher syndrome type 1B MONDO:0019501 OMIM:276900 OMIMPS:276900 Usher syndrome MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 MONDO:0044807 OMIM:118800 OMIMPS:128100 inherited dystonia -MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy MONDO:0700245 epidermolytic hyperkeratosis 2B, autosomal recessive MONDO:0007239 OMIM:620707 OMIMPS:113800 epidermolytic ichthyosis MONDO:0700248 epidermolytic hyperkeratosis 2A, autosomal dominant MONDO:0007239 OMIM:620150 OMIMPS:113800 epidermolytic ichthyosis MONDO:0800104 immunodeficiency 105 MONDO:0021094 OMIM:619924 OMIMPS:300755 immunodeficiency disease MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0020074 OMIM:620681 OMIMPS:254800 progressive myoclonus epilepsy +MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0044807 OMIM:620245 OMIMPS:128100 inherited dystonia MONDO:0957536 intellectual developmental disorder, autosomal dominant 73 MONDO:0100172 OMIM:620450 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:0100223 OMIM:619382 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type @@ -4456,7 +4455,6 @@ MONDO:0001734 tuberous sclerosis MONDO:0000001 Orphanet:805 Orphanet:377788 dise MONDO:0001881 toxic shock syndrome MONDO:0000001 Orphanet:36234 Orphanet:377788 disease MONDO:0001945 postencephalitic Parkinson disease MONDO:0000001 Orphanet:97349 Orphanet:377788 disease MONDO:0001956 capillary leak syndrome MONDO:0000001 Orphanet:188 Orphanet:377788 disease -MONDO:0001971 farmer's lung disease MONDO:0000001 Orphanet:99906 Orphanet:377788 disease MONDO:0002096 malignant conjunctival melanoma MONDO:0000001 Orphanet:617910 Orphanet:377788 disease MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0000001 Orphanet:2023 Orphanet:377788 disease MONDO:0002158 fallopian tube cancer MONDO:0000001 Orphanet:180242 Orphanet:377788 disease @@ -4592,7 +4590,6 @@ MONDO:0005645 ancylostomiasis MONDO:0000001 Orphanet:78 Orphanet:377788 disease MONDO:0005657 aspergillosis MONDO:0000001 Orphanet:1163 Orphanet:377788 disease MONDO:0005661 babesiosis MONDO:0000001 Orphanet:108 Orphanet:377788 disease MONDO:0005662 balantidiasis MONDO:0000001 Orphanet:1223 Orphanet:377788 disease -MONDO:0005668 bird fancier's lung MONDO:0000001 Orphanet:99908 Orphanet:377788 disease MONDO:0005674 bone giant cell tumor MONDO:0000001 Orphanet:363976 Orphanet:377788 disease MONDO:0005683 brucellosis MONDO:0000001 Orphanet:1304 Orphanet:377788 disease MONDO:0005692 cat-scratch disease MONDO:0000001 Orphanet:50839 Orphanet:377788 disease @@ -4852,7 +4849,6 @@ MONDO:0007735 congenital Horner syndrome MONDO:0000001 Orphanet:91413 Orphanet:3 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0000001 Orphanet:263463 Orphanet:377788 disease MONDO:0007739 Huntington disease MONDO:0000001 Orphanet:399 Orphanet:377788 disease MONDO:0007740 Wagner disease MONDO:0000001 Orphanet:898 Orphanet:377788 disease -MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0000001 Orphanet:79506 Orphanet:377788 disease MONDO:0007747 isolated hyperchlorhidrosis MONDO:0000001 Orphanet:542657 Orphanet:377788 disease MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0000001 Orphanet:409 Orphanet:377788 disease MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0000001 Orphanet:1336 Orphanet:377788 disease @@ -5494,7 +5490,6 @@ MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0016789 Orphanet:766 MONDO:0009958 adult Refsum disease MONDO:0000001 Orphanet:773 Orphanet:377788 disease MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0000001 Orphanet:140969 Orphanet:377788 disease MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0019691 Orphanet:140969 Orphanet:93426 short rib dysplasia -MONDO:0009971 respiratory distress syndrome in premature infants MONDO:0000001 Orphanet:70587 Orphanet:377788 disease MONDO:0009973 reticular dysgenesis MONDO:0000001 Orphanet:33355 Orphanet:377788 disease MONDO:0009975 reticulum cell sarcoma MONDO:0000001 Orphanet:86900 Orphanet:377788 disease MONDO:0009979 reticular dystrophy of the retinal pigment epithelium MONDO:0000001 Orphanet:99002 Orphanet:377788 disease @@ -5749,7 +5744,6 @@ MONDO:0010877 Charcot-Marie-Tooth disease type 5 MONDO:0000001 Orphanet:64751 Or MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0000001 Orphanet:100988 Orphanet:377788 disease MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0000001 Orphanet:3387 Orphanet:377788 disease MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0000001 Orphanet:101046 Orphanet:377788 disease -MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type MONDO:0000001 Orphanet:163662 Orphanet:377788 disease MONDO:0010907 familial hypertryptophanemia MONDO:0000001 Orphanet:2224 Orphanet:377788 disease MONDO:0010908 loose anagen syndrome MONDO:0000001 Orphanet:168 Orphanet:377788 disease @@ -6231,7 +6225,6 @@ MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0015650 Orphan MONDO:0012815 Coats plus syndrome MONDO:0000001 Orphanet:313838 Orphanet:377788 disease MONDO:0012817 Ewing sarcoma MONDO:0000001 Orphanet:319 Orphanet:377788 disease MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0000001 Orphanet:209916 Orphanet:377788 disease -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0000001 Orphanet:183713 Orphanet:377788 disease MONDO:0012856 Birk-Barel syndrome MONDO:0000001 Orphanet:166108 Orphanet:377788 disease MONDO:0012858 primary CD59 deficiency MONDO:0000001 Orphanet:169464 Orphanet:377788 disease MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0000001 Orphanet:178389 Orphanet:377788 disease @@ -6427,7 +6420,6 @@ MONDO:0013772 Huppke-Brendel syndrome MONDO:0000001 Orphanet:300313 Orphanet:377 MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0000001 Orphanet:436169 Orphanet:377788 disease MONDO:0013776 spastic ataxia 5 MONDO:0000001 Orphanet:313772 Orphanet:377788 disease MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0000001 Orphanet:300536 Orphanet:377788 disease -MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0000001 Orphanet:658540 Orphanet:377788 disease MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0000001 Orphanet:313850 Orphanet:377788 disease MONDO:0013803 leukoencephalopathy with calcifications and cysts MONDO:0000001 Orphanet:542310 Orphanet:377788 disease MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0000001 Orphanet:313846 Orphanet:377788 disease @@ -6759,7 +6751,6 @@ MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0000001 Orphanet:480682 Orphanet:377788 disease MONDO:0015004 dystonia 28, childhood-onset MONDO:0000001 Orphanet:589618 Orphanet:377788 disease MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0000001 Orphanet:508529 Orphanet:377788 disease -MONDO:0015021 hypotonia, ataxia, and delayed development syndrome MONDO:0000001 Orphanet:658843 Orphanet:377788 disease MONDO:0015027 familial isolated hyperparathyroidism MONDO:0000001 Orphanet:99879 Orphanet:377788 disease MONDO:0015031 extraneural perineurioma MONDO:0000001 Orphanet:100002 Orphanet:377788 disease MONDO:0015032 intraneural perineurioma MONDO:0000001 Orphanet:100003 Orphanet:377788 disease @@ -6909,8 +6900,6 @@ MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:00 MONDO:0015634 isolated osteopoikilosis MONDO:0000001 Orphanet:166119 Orphanet:377788 disease MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus MONDO:0000001 Orphanet:166286 Orphanet:377788 disease MONDO:0015636 dirofilariasis MONDO:0000001 Orphanet:166291 Orphanet:377788 disease -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures MONDO:0000001 Orphanet:166299 Orphanet:377788 disease -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy MONDO:0000001 Orphanet:166302 Orphanet:377788 disease MONDO:0015640 benign infantile seizures associated with mild gastroenteritis MONDO:0000001 Orphanet:166305 Orphanet:377788 disease MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0000001 Orphanet:166308 Orphanet:377788 disease MONDO:0015643 photosensitive epilepsy MONDO:0000001 Orphanet:166409 Orphanet:377788 disease @@ -7497,6 +7486,7 @@ MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:316 Orphanet MONDO:0017851 erythrokeratodermia variabilis MONDO:0000001 Orphanet:317 Orphanet:377788 disease MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0000001 Orphanet:3173 Orphanet:377788 disease MONDO:0017852 infantile spasms-broad thumbs syndrome MONDO:0015650 Orphanet:3173 Orphanet:166463 epilepsy syndrome +MONDO:0017853 hypersensitivity pneumonitis MONDO:0000001 Orphanet:31740 Orphanet:377788 disease MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0000001 Orphanet:3175 Orphanet:377788 disease MONDO:0017858 acute erythroid leukemia MONDO:0000001 Orphanet:318 Orphanet:377788 disease MONDO:0017860 methanol poisoning MONDO:0000001 Orphanet:31825 Orphanet:377788 disease @@ -7660,7 +7650,6 @@ MONDO:0018199 new-onset refractory status epilepticus MONDO:0000001 Orphanet:363 MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0000001 Orphanet:363618 Orphanet:377788 disease MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0000001 Orphanet:363677 Orphanet:377788 disease MONDO:0018211 Balint syndrome MONDO:0000001 Orphanet:363746 Orphanet:377788 disease -MONDO:0018212 familial cervical artery dissection MONDO:0000001 Orphanet:36382 Orphanet:377788 disease MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0000001 Orphanet:36386 Orphanet:377788 disease MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0000001 Orphanet:36387 Orphanet:377788 disease MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0000001 Orphanet:363969 Orphanet:377788 disease @@ -7986,7 +7975,6 @@ MONDO:0018927 SUNCT syndrome MONDO:0000001 Orphanet:57145 Orphanet:377788 diseas MONDO:0018929 medial condensing osteitis of the clavicle MONDO:0000001 Orphanet:57196 Orphanet:377788 disease MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0000001 Orphanet:577 Orphanet:377788 disease MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0019248 Orphanet:577 Orphanet:79212 mucolipidosis -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0000001 Orphanet:57777 Orphanet:377788 disease MONDO:0018935 hairy cell leukemia MONDO:0000001 Orphanet:58017 Orphanet:377788 disease MONDO:0018935 hairy cell leukemia MONDO:0017594 Orphanet:58017 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0018936 osteoblastoma MONDO:0000001 Orphanet:58040 Orphanet:377788 disease @@ -8013,7 +8001,6 @@ MONDO:0018974 paraneoplastic pemphigus MONDO:0000001 Orphanet:63455 Orphanet:377 MONDO:0018975 neurofibromatosis type 1 MONDO:0000001 Orphanet:636 Orphanet:377788 disease MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0000001 Orphanet:639 Orphanet:377788 disease MONDO:0018979 multifocal motor neuropathy MONDO:0000001 Orphanet:641 Orphanet:377788 disease -MONDO:0018981 benign idiopathic neonatal seizures MONDO:0000001 Orphanet:64545 Orphanet:377788 disease MONDO:0018982 Niemann-Pick disease type C MONDO:0000001 Orphanet:646 Orphanet:377788 disease MONDO:0018982 Niemann-Pick disease type C MONDO:0019245 Orphanet:646 Orphanet:79204 lysosomal lipid storage disorder MONDO:0018983 Tolosa-Hunt syndrome MONDO:0000001 Orphanet:64686 Orphanet:377788 disease @@ -8447,7 +8434,6 @@ MONDO:0020513 spermatocytic seminoma MONDO:0010108 Orphanet:99865 Orphanet:36350 MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0000001 Orphanet:99869 Orphanet:377788 disease MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0018079 Orphanet:99869 Orphanet:3398 thymic epithelial neoplasm MONDO:0020527 ectopic Cushing syndrome MONDO:0000001 Orphanet:99889 Orphanet:377788 disease -MONDO:0020535 house allergic alveolitis MONDO:0000001 Orphanet:99907 Orphanet:377788 disease MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary MONDO:0000001 Orphanet:99912 Orphanet:377788 disease MONDO:0020540 ovarian gynandroblastoma MONDO:0000001 Orphanet:99914 Orphanet:377788 disease MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0000001 Orphanet:99915 Orphanet:377788 disease @@ -8571,7 +8557,6 @@ MONDO:0033482 spinocerebellar ataxia 47 MONDO:0000001 Orphanet:642747 Orphanet:3 MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MONDO:0000001 Orphanet:641353 Orphanet:377788 disease MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0000001 Orphanet:631076 Orphanet:377788 disease MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0000001 Orphanet:544488 Orphanet:377788 disease -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome MONDO:0000001 Orphanet:50817 Orphanet:377788 disease MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0000001 Orphanet:508533 Orphanet:377788 disease MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0000001 Orphanet:508542 Orphanet:377788 disease MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation MONDO:0000001 Orphanet:512260 Orphanet:377788 disease diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index aea105f8..4d993492 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -1332,6 +1332,7 @@ MONDO:0002220 tooth hard tissue disease MONDO:0006999 DOID:214 DOID:1091 tooth d MONDO:0002221 urethral urothelial papilloma MONDO:0004177 DOID:2140 DOID:730 benign urethral neoplasm MONDO:0002222 urethra leiomyoma MONDO:0001572 DOID:2142 DOID:127 leiomyoma MONDO:0002222 urethra leiomyoma MONDO:0004177 DOID:2142 DOID:730 benign urethral neoplasm +MONDO:0002223 ovarian malignant mesothelioma MONDO:0006292 DOID:2143 DOID:1790 malignant mesothelioma MONDO:0002223 ovarian malignant mesothelioma MONDO:0008170 DOID:2143 DOID:2394 ovarian cancer MONDO:0002224 malignant ovarian cyst MONDO:0008170 DOID:2145 DOID:2394 ovarian cancer MONDO:0002225 ovarian sarcoma MONDO:0008170 DOID:2146 DOID:2394 ovarian cancer @@ -2384,6 +2385,7 @@ MONDO:0003802 cornea cancer MONDO:0002236 DOID:6199 DOID:2174 ocular cancer MONDO:0003803 aortic valve disorder MONDO:0002869 DOID:62 DOID:4079 heart valve disorder MONDO:0003803 aortic valve disorder MONDO:0005561 DOID:62 DOID:520 aortic disorder MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 DOID:6201 DOID:116 pericardium cancer +MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 DOID:6201 DOID:1790 malignant mesothelioma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 DOID:6208 DOID:4050 mediastinum sarcoma MONDO:0003810 bladder diffuse clear cell adenocarcinoma MONDO:0003386 DOID:6210 DOID:5306 bladder clear cell adenocarcinoma MONDO:0003812 ovarian endometrial cancer MONDO:0002480 DOID:6212 DOID:3001 endometrioid tumor @@ -2542,6 +2544,7 @@ MONDO:0004026 skin tag MONDO:0006603 DOID:6873 DOID:2053 reactive cutaneous fibr MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 DOID:6880 DOID:5272 small intestinal sarcoma MONDO:0004028 small intestinal fibrosarcoma MONDO:0005164 DOID:6880 DOID:3355 fibrosarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 DOID:6888 DOID:4939 ureter carcinoma +MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 DOID:6898 DOID:4001 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 DOID:6903 DOID:2174 ocular cancer MONDO:0004034 eye lymphoma MONDO:0005062 DOID:6903 DOID:0060058 lymphoma MONDO:0004035 glomangiomatosis MONDO:0003342 DOID:6906 DOID:5238 benign perivascular tumor @@ -3309,6 +3312,7 @@ MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 DOID:3907 DOID:1749 squ MONDO:0005100 systemic sclerosis MONDO:0019340 DOID:418 DOID:419 scleroderma MONDO:0005101 ulcerative colitis MONDO:0005292 DOID:8577 DOID:0060180 colitis MONDO:0005108 viral infectious disease MONDO:0005550 DOID:934 DOID:0050117 infectious disease +MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 DOID:7474 DOID:1790 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 DOID:7474 DOID:5158 pleural cancer MONDO:0005113 bacterial infectious disease MONDO:0005550 DOID:104 DOID:0050117 infectious disease MONDO:0005116 Whipple disease MONDO:0005020 DOID:8476 DOID:5295 intestinal disorder @@ -3467,6 +3471,7 @@ MONDO:0005508 hereditary multiple osteochondromas MONDO:0002181 DOID:206 DOID:20 MONDO:0005510 hydronephrosis MONDO:0003330 DOID:11111 DOID:5200 urinary tract obstruction MONDO:0005511 janus kinase-3 deficiency MONDO:0015974 DOID:0060008 DOID:627 severe combined immunodeficiency MONDO:0005512 malignant peritoneal mesothelioma MONDO:0002087 DOID:1788 DOID:1725 peritoneum cancer +MONDO:0005512 malignant peritoneal mesothelioma MONDO:0006292 DOID:1788 DOID:1790 malignant mesothelioma MONDO:0005514 nanophthalmia MONDO:0021129 DOID:0080634 DOID:10629 microphthalmia MONDO:0005515 oral cavity cancer MONDO:0002516 DOID:8618 DOID:3119 digestive system cancer MONDO:0005516 osteochondrodysplasia MONDO:0005497 DOID:2256 DOID:0080006 bone development disease @@ -4532,7 +4537,6 @@ MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0004680 DOID:8924 DOID:8 MONDO:0008585 HELLP syndrome MONDO:0001641 DOID:13133 DOID:13129 severe pre-eclampsia MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 DOID:0111428 DOID:4990 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0000426 DOID:14743 DOID:0050736 autosomal dominant disease -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0000426 DOID:0080376 DOID:0050736 autosomal dominant disease MONDO:0008599 trigeminal neuralgia MONDO:0003543 DOID:12098 DOID:561 trigeminal nerve disorder MONDO:0008610 blue color blindness MONDO:0001703 DOID:11661 DOID:13399 color vision disorder MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 DOID:0080324 DOID:13515 tuberous sclerosis @@ -4826,7 +4830,6 @@ MONDO:0009685 Miyoshi myopathy MONDO:0018949 DOID:0070198 DOID:11720 distal myop MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 DOID:0110671 DOID:3635 congenital myasthenic syndrome MONDO:0009691 mycosis fungoides MONDO:0000607 DOID:8691 DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0009693 plasma cell myeloma MONDO:0005170 DOID:9538 DOID:0070004 myeloid neoplasm -MONDO:0009696 juvenile myoclonic epilepsy MONDO:0000415 DOID:4890 DOID:0050705 adolescence-adult electroclinical syndrome MONDO:0009697 Lafora disease MONDO:0020074 DOID:3534 DOID:891 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 DOID:3535 DOID:891 progressive myoclonus epilepsy MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0020074 DOID:0111444 DOID:891 progressive myoclonus epilepsy @@ -5557,7 +5560,6 @@ MONDO:0011945 Gaucher disease perinatal lethal MONDO:0018150 DOID:0110960 DOID:1 MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 DOID:0060272 DOID:0060264 pontocerebellar hypoplasia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 DOID:0111617 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 DOID:0070517 DOID:0070438 macular dystrophy, retinal -MONDO:0011959 sweet syndrome MONDO:0005093 DOID:0080746 DOID:37 skin disorder MONDO:0011960 schizophrenia 11 MONDO:0005090 DOID:0070087 DOID:5419 schizophrenia MONDO:0011962 endometrial cancer MONDO:0002715 DOID:1380 DOID:363 uterine cancer MONDO:0011963 Joubert syndrome 2 MONDO:0018772 DOID:0110988 DOID:0050777 Joubert syndrome @@ -7884,6 +7886,7 @@ MONDO:0100452 RPE65-related dominant retinopathy MONDO:0000426 DOID:0112144 DOID MONDO:0100459 azoospermia MONDO:0005372 DOID:14227 DOID:12336 male infertility MONDO:0100510 spondyloepimetaphyseal dysplasia MONDO:0005516 DOID:0080027 DOID:2256 osteochondrodysplasia MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0004947 DOID:0080649 DOID:0080630 B-cell acute lymphoblastic leukemia +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0005395 DOID:0070487 DOID:480 movement disorder MONDO:0700200 atypical dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070488 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 DOID:0081358 DOID:4603 epidermolytic ichthyosis @@ -7975,7 +7978,6 @@ MONDO:0850368 immunoglobulin heavy-and-light chain MONDO:0019065 DOID:0080935 DO MONDO:0850371 nonobstructive coronary artery disease MONDO:0005010 DOID:0080938 DOID:3393 coronary artery disorder MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered MONDO:0004378 DOID:0080956 DOID:7841 pediatric cerebral ependymoblastoma MONDO:0850416 autoimmune epilepsy MONDO:0000568 DOID:0080994 DOID:0060004 autoimmune disorder of central nervous system -MONDO:0850416 autoimmune epilepsy MONDO:0005027 DOID:0080994 DOID:1826 epilepsy MONDO:0850417 tuberculous encephalopathy MONDO:0018076 DOID:0080995 DOID:399 tuberculosis MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type MONDO:0018905 DOID:0080996 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type MONDO:0018905 DOID:0080997 DOID:0050745 diffuse large B-cell lymphoma @@ -10972,6 +10974,7 @@ MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 NCIT:C5336 NCIT:C5335 MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 NCIT:C4830 NCIT:C8993 ureter carcinoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0020654 NCIT:C4830 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0004032 ovarian seromucinous carcinoma MONDO:0003811 NCIT:C40090 NCIT:C4508 ovarian seromucinous tumor +MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C4908 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 NCIT:C35690 NCIT:C4767 ocular cancer MONDO:0004040 urinary bladder inverted papilloma MONDO:0021109 NCIT:C39859 NCIT:C6192 inverted urothelial papilloma MONDO:0004040 urinary bladder inverted papilloma MONDO:0044906 NCIT:C39859 NCIT:C39858 bladder urothelial papilloma @@ -12703,7 +12706,6 @@ MONDO:0021310 malignant tumor of neck MONDO:0021351 NCIT:C4940 NCIT:C3260 neopla MONDO:0021311 malignant tumor of parathyroid gland MONDO:0021360 NCIT:C9322 NCIT:C3313 tumor of parathyroid gland MONDO:0021312 malignant tumor of adrenal cortex MONDO:0002817 NCIT:C9327 NCIT:C9338 adrenal gland cancer MONDO:0021312 malignant tumor of adrenal cortex MONDO:0036591 NCIT:C9327 NCIT:C2858 adrenal cortex neoplasm -MONDO:0021313 eyelid cancer MONDO:0002235 NCIT:C6786 NCIT:C3031 eyelid neoplasm MONDO:0021313 eyelid cancer MONDO:0002236 NCIT:C6786 NCIT:C4767 ocular cancer MONDO:0021315 malignant tumor of nasopharynx MONDO:0005375 NCIT:C9321 NCIT:C3257 nasopharyngeal neoplasm MONDO:0021315 malignant tumor of nasopharynx MONDO:0005517 NCIT:C9321 NCIT:C7545 pharynx cancer @@ -13466,7 +13468,6 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 MONDO:0017896 OMIM:188550 OMIMPS:1 MONDO:0008582 tooth and nail syndrome MONDO:0019287 OMIM:189500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 OMIM:190300 OMIMPS:190300 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0017951 OMIM:190350 OMIMPS:190350 trichorhinophalangeal syndrome -MONDO:0008597 obsolete trichorhinophalangeal syndrome, type III MONDO:0017951 OMIM:190351 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0008603 trigonocephaly 1 MONDO:0018065 OMIM:190440 OMIMPS:190440 isolated trigonocephaly MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 OMIM:191100 OMIMPS:191100 tuberous sclerosis MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 OMIM:191390 OMIMPS:266600 inflammatory bowel disease @@ -13948,7 +13949,6 @@ MONDO:0010985 epilepsy, familial adult myoclonic, 1 MONDO:0000160 OMIM:601068 OM MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0019588 OMIM:601071 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0021944 OMIM:601071 OMIMPS:609129 auditory neuropathy MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 MONDO:0019588 OMIM:601072 OMIMPS:220290 hearing loss, autosomal recessive -MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 MONDO:0019180 OMIM:601101 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:0019037 OMIM:601104 OMIMPS:601104 progressive supranuclear palsy MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0005500 OMIM:601110 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011001 Brugada syndrome 1 MONDO:0015263 OMIM:601144 OMIMPS:601144 Brugada syndrome @@ -15239,6 +15239,7 @@ MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:0016349 OMIM:615219 OMIMPS:236600 congenital hydrocephalus MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 OMIM:615222 OMIMPS:607326 Smith-McCort dysplasia MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 OMIM:615224 OMIMPS:604348 advanced sleep phase syndrome +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 OMIM:615233 OMIMPS:268000 retinitis pigmentosa MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0000104 OMIM:615234 OMIMPS:206100 anemia, hypochromic microcytic with iron overload MONDO:0014095 dilated cardiomyopathy 1JJ MONDO:0016333 OMIM:615235 OMIMPS:115200 familial dilated cardiomyopathy @@ -16223,6 +16224,7 @@ MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0100223 MONDO:0030998 hearing loss, autosomal dominant 80 MONDO:0019587 OMIM:619274 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031400 OMIM:619951 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031003 hypercholanemia, familial, 2 MONDO:0100327 OMIM:619256 OMIMPS:607748 hypercholanemia, familial +MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0100326 OMIM:619267 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031169 OMIM:619269 OMIMPS:184260 odontochondrodysplasia MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 OMIM:619966 OMIMPS:303350 hereditary spastic paraplegia @@ -16722,6 +16724,7 @@ MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO: MONDO:0100436 cataract 2, multiple types MONDO:0005129 OMIM:604307 OMIMPS:116200 cataract MONDO:0100467 preeclampsia/eclampsia 1 MONDO:0005081 OMIM:189800 OMIMPS:189800 preeclampsia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 MONDO:0015855 OMIM:113700 OMIMPS:113700 isolated congenital breast hypoplasia/aplasia +MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy MONDO:0700112 heterotaxy, visceral, 5, autosomal MONDO:0018677 OMIM:270100 OMIMPS:306955 visceral heterotaxy MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 OMIM:113800 OMIMPS:113800 epidermolytic ichthyosis MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 MONDO:0033885 OMIM:220110 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type @@ -16741,7 +16744,6 @@ MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 famil MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0009697 OMIM:620681 OMIMPS:254780 Lafora disease -MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 OMIM:616901 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair @@ -16999,6 +17001,7 @@ MONDO:0958333 thrombocytopenia 13, syndromic MONDO:0100241 OMIM:620776 OMIMPS:31 MONDO:0958334 pulmonary hypertension, primary, 6 MONDO:0017148 OMIM:620777 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 OMIM:620779 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0968946 developmental and epileptic encephalopathy 115 MONDO:0100062 OMIM:620783 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive MONDO:0008947 OMIM:620786 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0968980 otosclerosis 12 MONDO:0005349 OMIM:620792 OMIMPS:166800 otosclerosis MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 MONDO:0019588 OMIM:620794 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 MONDO:0009726 OMIM:620796 OMIMPS:256040 proteosome-associated autoinflammatory syndrome @@ -17364,7 +17367,6 @@ MONDO:0007725 hereditary progressive mucinous histiocytosis MONDO:0015531 Orphan MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017953 Orphanet:32960 Orphanet:324924 hereditary periodic fever syndrome MONDO:0007732 Holt-Oram syndrome MONDO:0015161 Orphanet:392 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007732 Holt-Oram syndrome MONDO:0016432 Orphanet:392 Orphanet:228184 heart-hand syndrome -MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO:0015903 Orphanet:79506 Orphanet:181428 hyperalphalipoproteinemia MONDO:0007747 isolated hyperchlorhidrosis MONDO:0021026 Orphanet:542657 Orphanet:183447 hereditary epidermal appendage anomaly MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0019289 Orphanet:1336 Orphanet:79375 hyperpigmentation of the skin MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0016365 Orphanet:99880 Orphanet:2207 familial primary hyperparathyroidism @@ -17510,7 +17512,6 @@ MONDO:0008371 Dowling-Degos disease MONDO:0017747 Orphanet:79145 Orphanet:309505 MONDO:0008371 Dowling-Degos disease MONDO:0019289 Orphanet:79145 Orphanet:79375 hyperpigmentation of the skin MONDO:0008389 autosomal dominant Robinow syndrome MONDO:0019978 Orphanet:3107 Orphanet:97360 Robinow syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 Orphanet:353277 Orphanet:783 Rubinstein-Taybi syndrome -MONDO:0008401 pleomorphic adenoma MONDO:0017168 Orphanet:454821 Orphanet:276148 benign epithelial tumor of salivary glands MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0019294 Orphanet:1003 Orphanet:79380 mixed dermis disorder MONDO:0008404 scalp-ear-nipple syndrome MONDO:0015161 Orphanet:2036 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019287 Orphanet:2036 Orphanet:79373 ectodermal dysplasia syndrome @@ -18010,7 +18011,6 @@ MONDO:0009691 mycosis fungoides MONDO:0015821 Orphanet:2584 Orphanet:178566 myco MONDO:0009692 primary myelofibrosis MONDO:0015610 Orphanet:824 Orphanet:164823 acquired aplastic anemia MONDO:0009692 primary myelofibrosis MONDO:0020076 Orphanet:824 Orphanet:98274 myeloproliferative neoplasm MONDO:0009693 plasma cell myeloma MONDO:0004959 Orphanet:29073 Orphanet:98282 plasma cell neoplasm -MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017704 Orphanet:307 Orphanet:309 familial partial epilepsy MONDO:0009697 Lafora disease MONDO:0020074 Orphanet:501 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 Orphanet:308 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MONDO:0015515 Orphanet:228302 Orphanet:157 carnitine palmitoyltransferase II deficiency @@ -18381,6 +18381,7 @@ MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0015 MONDO:0010886 2q37 microdeletion syndrome MONDO:0016901 Orphanet:1001 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0019280 Orphanet:3387 Orphanet:79365 hypertrichosis MONDO:0010890 acrocardiofacial syndrome MONDO:0015159 Orphanet:2008 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy MONDO:0010907 familial hypertryptophanemia MONDO:0017350 Orphanet:2224 Orphanet:289829 inborn disorder of tryptophan metabolism MONDO:0010908 loose anagen syndrome MONDO:0004907 Orphanet:168 Orphanet:79364 alopecia MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:0015515 Orphanet:228305 Orphanet:157 carnitine palmitoyltransferase II deficiency @@ -19064,7 +19065,6 @@ MONDO:0014072 D,L-2-hydroxyglutaric aciduria MONDO:0016001 Orphanet:356978 Orpha MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0019548 Orphanet:352670 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0018869 Orphanet:352682 Orphanet:51577 cobblestone lissencephaly MONDO:0014080 osteosclerotic metaphyseal dysplasia MONDO:0017198 Orphanet:500548 Orphanet:2781 osteopetrosis -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency MONDO:0044201 Orphanet:357237 Orphanet:397802 T+ B+ severe combined immunodeficiency MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0020212 Orphanet:352662 Orphanet:98625 superficial corneal dystrophy MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0020099 Orphanet:300298 Orphanet:98362 inherited sideroblastic anemia MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0020088 Orphanet:435651 Orphanet:98306 familial partial lipodystrophy @@ -19100,7 +19100,6 @@ MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MOND MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0019942 Orphanet:370943 Orphanet:97120 distal arthrogryposis MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0015159 Orphanet:508488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0016907 Orphanet:508488 Orphanet:262065 partial deletion of the long arm of chromosome 8 -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency MONDO:0044201 Orphanet:397787 Orphanet:397802 T+ B+ severe combined immunodeficiency MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0017740 Orphanet:370921 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0017740 Orphanet:370924 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0015159 Orphanet:397951 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -19244,6 +19243,7 @@ MONDO:0014837 thrombocytopenia 6 MONDO:0018795 Orphanet:480851 Orphanet:477794 s MONDO:0014837 thrombocytopenia 6 MONDO:0020076 Orphanet:480851 Orphanet:98274 myeloproliferative neoplasm MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0018446 Orphanet:404493 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0015159 Orphanet:488642 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014855 intellectual disability, autosomal dominant 42 MONDO:0015653 Orphanet:488613 Orphanet:166472 monogenic epilepsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0017766 Orphanet:521406 Orphanet:309851 disorder of manganese transport MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0028226 Orphanet:420702 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0015929 Orphanet:464366 Orphanet:182108 thoracic malformation @@ -19337,7 +19337,6 @@ MONDO:0015231 Bartter syndrome MONDO:0015962 Orphanet:112 Orphanet:183592 inheri MONDO:0015233 caudal appendage-deafness syndrome MONDO:0015159 Orphanet:1123 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0015159 Orphanet:1129 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015236 aortic arch defects MONDO:0020292 Orphanet:1132 Orphanet:98724 congenital anomaly of the great arteries -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome MONDO:0015161 Orphanet:1135 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015239 abnormal origin of the pulmonary artery MONDO:0016581 Orphanet:1138 Orphanet:2445 conotruncal heart malformations MONDO:0015240 digitotalar dysmorphism MONDO:0015161 Orphanet:1146 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015240 digitotalar dysmorphism MONDO:0019942 Orphanet:1146 Orphanet:97120 distal arthrogryposis @@ -19489,9 +19488,6 @@ MONDO:0015629 von Willebrand disease type 2B MONDO:0013304 Orphanet:166087 Orpha MONDO:0015630 von Willebrand disease type 2M MONDO:0013304 Orphanet:166090 Orphanet:166081 von Willebrand disease 2 MONDO:0015631 von Willebrand disease type 2N MONDO:0013304 Orphanet:166093 Orphanet:166081 von Willebrand disease 2 MONDO:0015636 dirofilariasis MONDO:0016075 Orphanet:166291 Orphanet:2034 filariasis -MONDO:0015637 benign non-familial infantile seizures MONDO:0015642 Orphanet:166295 Orphanet:166311 benign partial infantile seizures -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures MONDO:0015637 Orphanet:166299 Orphanet:166295 benign non-familial infantile seizures -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy MONDO:0015637 Orphanet:166302 Orphanet:166295 benign non-familial infantile seizures MONDO:0015640 benign infantile seizures associated with mild gastroenteritis MONDO:0015642 Orphanet:166305 Orphanet:166311 benign partial infantile seizures MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0015642 Orphanet:166308 Orphanet:166311 benign partial infantile seizures MONDO:0015642 benign partial infantile seizures MONDO:0020071 Orphanet:166311 Orphanet:98258 infantile epilepsy syndrome @@ -20792,8 +20788,6 @@ MONDO:0018924 microphthalmia, Lenz type MONDO:0016073 Orphanet:568 Orphanet:2029 MONDO:0018927 SUNCT syndrome MONDO:0015530 Orphanet:57145 Orphanet:157843 trigeminal autonomic cephalalgia MONDO:0018929 medial condensing osteitis of the clavicle MONDO:0018381 Orphanet:57196 Orphanet:399319 osteochondrosis MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0800088 Orphanet:577 Orphanet:93448 lysosomal storage disease with skeletal involvement -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0016330 Orphanet:57777 Orphanet:217598 non-familial hypertrophic cardiomyopathy -MONDO:0018932 cirrhotic cardiomyopathy MONDO:0016338 Orphanet:57777 Orphanet:217629 non-familial dilated cardiomyopathy MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019249 Orphanet:581 Orphanet:79213 mucopolysaccharidosis MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0019249 Orphanet:582 Orphanet:79213 mucopolysaccharidosis MONDO:0018941 furuncular myiasis MONDO:0020568 Orphanet:591 Orphanet:99983 cutaneous myiasis @@ -20813,7 +20807,6 @@ MONDO:0018974 paraneoplastic pemphigus MONDO:0019337 Orphanet:63455 Orphanet:796 MONDO:0018975 neurofibromatosis type 1 MONDO:0021060 Orphanet:636 Orphanet:536391 RASopathy MONDO:0018978 IgG4-related mediastinitis MONDO:0017287 Orphanet:63999 Orphanet:596448 IgG4-related disease MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:0018237 Orphanet:64542 Orphanet:364574 acrofacial dysostosis -MONDO:0018981 benign idiopathic neonatal seizures MONDO:0020070 Orphanet:64545 Orphanet:98257 neonatal epilepsy syndrome MONDO:0018992 IgG4-related thyroid disease MONDO:0017287 Orphanet:64744 Orphanet:596448 IgG4-related disease MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0015626 Orphanet:64747 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020127 Orphanet:64753 Orphanet:98497 hereditary peripheral neuropathy @@ -21418,7 +21411,6 @@ MONDO:0020526 acute megakaryoblastic leukemia in down syndrome MONDO:0018872 Orp MONDO:0020527 ectopic Cushing syndrome MONDO:0020528 Orphanet:99889 Orphanet:99892 ACTH-dependent Cushing syndrome MONDO:0020532 spirillary rat-bite fever MONDO:0006941 Orphanet:99903 Orphanet:31205 rat-bite fever MONDO:0020533 streptobacillary rat-bite fever MONDO:0006941 Orphanet:99905 Orphanet:31205 rat-bite fever -MONDO:0020535 house allergic alveolitis MONDO:0017853 Orphanet:99907 Orphanet:31740 hypersensitivity pneumonitis MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary MONDO:0018171 Orphanet:99912 Orphanet:35807 malignant germ cell tumor of ovary MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor MONDO:0018201 Orphanet:99913 Orphanet:363579 extragonadal germ cell tumor MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0018172 Orphanet:99915 Orphanet:35808 malignant sex cord stromal tumor of ovary @@ -21645,7 +21637,6 @@ MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephro MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0024237 Orphanet:505242 Orphanet:183500 inherited neurodegenerative disorder MONDO:0044738 Gabriele de Vries syndrome MONDO:0015159 Orphanet:506358 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:0019810 Orphanet:506784 Orphanet:95455 toxic epidermal necrolysis -MONDO:0044740 salivary gland squamous cell carcinoma MONDO:0017167 Orphanet:500481 Orphanet:276145 malignant epithelial tumor of salivary glands MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0004952 Orphanet:86893 Orphanet:98293 Hodgkins lymphoma MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0018215 Orphanet:623626 Orphanet:36388 paraneoplastic neurologic syndrome MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0017750 Orphanet:435934 Orphanet:309568 defect in conserved oligomeric Golgi complex diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 2cf89639..390beac1 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -1415,7 +1415,7 @@ MONDO:0001962 MONDO:0001933 True abnormality of glucagon secretion endocrine pan MONDO:0001964 MONDO:0005975 True chronic tubotympanic suppurative otitis media suppurative otitis media UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0001965 MONDO:0004903 True sclerosing keratitis deep keratitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001966 MONDO:0001868 True chronic closed-angle glaucoma primary angle-closure glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001971 MONDO:0017853 True farmer's lung disease hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0001971 MONDO:0017853 True farmer's lung disease hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001972 MONDO:0005683 True Brucella melitensis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001973 MONDO:0005683 True Brucella abortus brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001974 MONDO:0006500 True hemangioma of orbit hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -1695,7 +1695,7 @@ MONDO:0002221 MONDO:0004041 True urethral urothelial papilloma urothelial papill MONDO:0002221 MONDO:0004177 True urethral urothelial papilloma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002222 MONDO:0001572 True urethra leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002222 MONDO:0004177 True urethra leiomyoma benign urethral neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0002223 MONDO:0006292 True ovarian malignant mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002223 MONDO:0008170 True ovarian malignant mesothelioma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002224 MONDO:0008170 True malignant ovarian cyst ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002225 MONDO:0008170 True ovarian sarcoma ovarian cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -3541,7 +3541,7 @@ MONDO:0003802 MONDO:0021238 True cornea cancer cornea neoplasm UNSUPPORTED-MISSI MONDO:0003803 MONDO:0002869 True aortic valve disorder heart valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003803 MONDO:0005561 True aortic valve disorder aortic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003805 MONDO:0001322 True malignant pericardial mesothelioma pericardium cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0003805 MONDO:0006292 True malignant pericardial mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0003806 MONDO:0015074 True thyroid hyalinizing trabecular adenoma thyroid tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0003808 MONDO:0002621 True mediastinal extraskeletal osteosarcoma extraosseous osteosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0003808 MONDO:0002852 True mediastinal extraskeletal osteosarcoma mediastinum sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -3844,8 +3844,8 @@ MONDO:0004028 MONDO:0005164 True small intestinal fibrosarcoma fibrosarcoma UNSU MONDO:0004030 MONDO:0006481 True ureter transitional cell carcinoma ureter carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004030 MONDO:0020654 True ureter transitional cell carcinoma renal pelvis/ureter urothelial carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004032 MONDO:0003811 True ovarian seromucinous carcinoma ovarian seromucinous tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0004032 MONDO:0005140 True ovarian seromucinous carcinoma ovarian carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004032 MONDO:0005853 True ovarian seromucinous carcinoma malignant mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0004032 MONDO:0018364 True ovarian seromucinous carcinoma malignant epithelial tumor of ovary UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004034 MONDO:0002236 True eye lymphoma ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004034 MONDO:0005062 True eye lymphoma lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0004035 MONDO:0003342 True glomangiomatosis benign perivascular tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -5058,7 +5058,7 @@ MONDO:0005105 MONDO:0021143 True melanoma melanocytic neoplasm UNSUPPORTED-MISSI MONDO:0005106 MONDO:0044983 True lipoma benign lipomatous neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005108 MONDO:0005550 True viral infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005112 MONDO:0003308 True malignant pleural mesothelioma pleural mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005112 MONDO:0006292 True malignant pleural mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005112 MONDO:0006294 True malignant pleural mesothelioma pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005113 MONDO:0005550 True bacterial infectious disease infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005115 MONDO:0017704 True temporal lobe epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -5291,7 +5291,7 @@ MONDO:0005509 MONDO:0005070 True histiocytoma neoplasm UNSUPPORTED-MISSING UNSUP MONDO:0005510 MONDO:0003330 True hydronephrosis urinary tract obstruction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005511 MONDO:0015974 True janus kinase-3 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005512 MONDO:0002087 True malignant peritoneal mesothelioma peritoneum cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005512 MONDO:0006292 True malignant peritoneal mesothelioma malignant mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005512 MONDO:0006362 True malignant peritoneal mesothelioma peritoneal mesothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005514 MONDO:0016764 True nanophthalmia isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005514 MONDO:0021129 True nanophthalmia microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -5395,7 +5395,7 @@ MONDO:0005665 MONDO:0001835 True Bell's palsy facial paralysis UNSUPPORTED-MISSI MONDO:0005665 MONDO:0002098 True Bell's palsy facial nerve disorder SUPPORTED UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005665 MONDO:0002782 True Bell's palsy cranial nerve palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005667 MONDO:0005281 True biliary dyskinesia gallbladder disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005668 MONDO:0017853 True bird fancier's lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005670 MONDO:0005136 True blackwater fever malaria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005672 MONDO:0000308 True blastomycosis primary systemic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005674 MONDO:0021054 True bone giant cell tumor bone sarcoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -7007,7 +7007,6 @@ MONDO:0007734 MONDO:0016296 True holoprosencephaly 4 holoprosencephaly UNSUPPORT MONDO:0007737 MONDO:0001411 True humeroradial synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007738 MONDO:0016761 True spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007738 MONDO:0019052 True spondyloepiphyseal dysplasia with congenital joint dislocations inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0007744 MONDO:0015903 True cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007745 MONDO:0002408 True Gilbert syndrome hereditary hyperbilirubinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007747 MONDO:0006025 True isolated hyperchlorhidrosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007747 MONDO:0021026 True isolated hyperchlorhidrosis hereditary epidermal appendage anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7446,7 +7445,6 @@ MONDO:0008393 MONDO:0019188 True Rubinstein-Taybi syndrome due to CREBBP mutatio MONDO:0008397 MONDO:0002254 True aplasia of lacrimal and salivary glands syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008397 MONDO:0003847 True aplasia of lacrimal and salivary glands hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008401 MONDO:0000385 True pleomorphic adenoma benign digestive system neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008401 MONDO:0017168 True pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008401 MONDO:0021043 True pleomorphic adenoma mixed neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0019054 True scalp defects-postaxial polydactyly syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0019294 True scalp defects-postaxial polydactyly syndrome mixed dermis disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7578,8 +7576,6 @@ MONDO:0008592 MONDO:0018230 True tricho-dento-osseous syndrome skeletal dysplasi MONDO:0008592 MONDO:0019287 True tricho-dento-osseous syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008596 MONDO:0000426 True trichorhinophalangeal syndrome type I autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008596 MONDO:0017951 True trichorhinophalangeal syndrome type I trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008597 MONDO:0000426 True trichorhinophalangeal syndrome, type III autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0008597 MONDO:0017951 True trichorhinophalangeal syndrome, type III trichorhinophalangeal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008598 MONDO:0019278 True trichodysplasia-xeroderma syndrome hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008599 MONDO:0003543 True trigeminal neuralgia trigeminal nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008599 MONDO:0016374 True trigeminal neuralgia cranial neuralgia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8461,8 +8457,6 @@ MONDO:0009692 MONDO:0020076 True primary myelofibrosis myeloproliferative neopla MONDO:0009693 MONDO:0004959 True plasma cell myeloma plasma cell neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009693 MONDO:0005170 True plasma cell myeloma myeloid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009694 MONDO:0015978 True myeloperoxidase deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0000415 True juvenile myoclonic epilepsy adolescence-adult electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009696 MONDO:0017704 True juvenile myoclonic epilepsy familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009697 MONDO:0020074 True Lafora disease progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0009698 MONDO:0020074 True Unverricht-Lundborg syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009699 MONDO:0020074 True action myoclonus-renal failure syndrome progressive myoclonus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -8476,10 +8470,12 @@ MONDO:0009712 MONDO:0018948 True congenital multicore myopathy with external oph MONDO:0009713 MONDO:0001384 True myopia 18, autosomal recessive myopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009717 MONDO:0016151 True Schwartz-Jampel syndrome qualitative or quantitative defects of perlecan UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009718 MONDO:0005420 True myxedema hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0009720 MONDO:0003847 True Keipert syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009720 MONDO:0015161 True Keipert syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009722 MONDO:0019952 True Bailey-Bloch congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009723 MONDO:0016387 True Leigh syndrome mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009723 MONDO:0020127 True Leigh syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009726 MONDO:0005046 True proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009726 MONDO:0006025 True proteosome-associated autoinflammatory syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009726 MONDO:0957408 True proteosome-associated autoinflammatory syndrome type 1 interferonopathy of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000389 True atelosteogenesis type II atelosteogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -9054,6 +9050,7 @@ MONDO:0010422 MONDO:0004975 True Alzheimer disease 16 Alzheimer disease UNSUPPOR MONDO:0010423 MONDO:0005345 True hypospadias 2, X-linked hypospadias UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010424 MONDO:0012580 True surfactant metabolism dysfunction, pulmonary, 4 hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010425 MONDO:0000763 True Lisch epithelial corneal dystrophy epithelial and subepithelial corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010425 MONDO:0003847 True Lisch epithelial corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010425 MONDO:0020212 True Lisch epithelial corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010426 MONDO:0000766 True X-linked endothelial corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010426 MONDO:0020214 True X-linked endothelial corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9428,6 +9425,7 @@ MONDO:0010894 MONDO:0018911 True maturity-onset diabetes of the young type 3 mat MONDO:0010895 MONDO:0006025 True ABCD syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010896 MONDO:0005328 True pigment dispersion syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010897 MONDO:0005090 True schizophrenia 3 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED +MONDO:0010898 MONDO:0017704 True autosomal dominant epilepsy with auditory features familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010899 MONDO:0000030 True autosomal dominant nocturnal frontal lobe epilepsy 1 sleep-related hypermotor epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010899 MONDO:0020300 True autosomal dominant nocturnal frontal lobe epilepsy 1 autosomal dominant nocturnal frontal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010905 MONDO:0015993 True cone-rod dystrophy 1 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9488,7 +9486,6 @@ MONDO:0010992 MONDO:0002254 True Ayme-Gripp syndrome syndromic disease UNSUPPORT MONDO:0010992 MONDO:0003847 True Ayme-Gripp syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010993 MONDO:0015159 True Harrod syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010995 MONDO:0019011 True Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010996 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010997 MONDO:0019037 True supranuclear palsy, progressive, 1 progressive supranuclear palsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010998 MONDO:0005500 True ALG3-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010998 MONDO:0017740 True ALG3-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9532,8 +9529,6 @@ MONDO:0011049 MONDO:0015159 True Fine-Lubinsky syndrome multiple congenital anom MONDO:0011050 MONDO:0015161 True microcephaly-cardiac defect-lung malsegmentation syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011051 MONDO:0016357 True lethal short-limb skeletal dysplasia, Al Gazali type dysplastic cortical hyperostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0015159 True intellectual disability-sparse hair-brachydactyly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0018234 True autosomal recessive amelia dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011054 MONDO:0019054 True autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011055 MONDO:0016892 True distal monosomy 10p partial deletion of the short arm of chromosome 10 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011056 MONDO:0003321 True Wilms tumor 4 hereditary Wilms tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011057 MONDO:0005560 True cerebrovascular disorder brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -10165,7 +10160,6 @@ MONDO:0011952 MONDO:0005144 True amyotrophic lateral sclerosis type 7 familial a MONDO:0011953 MONDO:0000166 True familial acute necrotizing encephalopathy encephalopathy, acute, infection-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011954 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 4 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011957 MONDO:0031166 True retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011959 MONDO:0005093 True sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011960 MONDO:0005090 True schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0011962 MONDO:0002715 True endometrial cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011962 MONDO:0021251 True endometrial cancer endometrium neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11800,7 +11794,6 @@ MONDO:0014077 MONDO:0018869 True cobblestone lissencephaly without muscular or o MONDO:0014078 MONDO:0000009 True platelet-type bleeding disorder 15 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014079 MONDO:0100170 True restless legs syndrome, susceptibility to, 8 restless legs syndrome, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014080 MONDO:0017198 True osteosclerotic metaphyseal dysplasia osteopetrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0014081 MONDO:0044201 True severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014082 MONDO:0021094 True cryptosporidiosis-chronic cholangitis-liver disease syndrome immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014084 MONDO:0015244 True ataxia with oculomotor apraxia type 3 autosomal recessive cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0014085 MONDO:0016349 True hydrocephalus, nonsyndromic, autosomal recessive 2 congenital hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11808,6 +11801,7 @@ MONDO:0014087 MONDO:0015799 True Smith-McCort dysplasia 2 Smith-McCort dysplasia MONDO:0014088 MONDO:0015609 True advanced sleep phase syndrome 2 advanced sleep phase syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014089 MONDO:0017666 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014089 MONDO:0020212 True corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014091 MONDO:0014471 True mitochondrial complex V (ATP synthase) deficiency nuclear type 4B mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014093 MONDO:0019200 True retinitis pigmentosa 66 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014094 MONDO:0000104 True severe congenital hypochromic anemia with ringed sideroblasts anemia, hypochromic microcytic with iron overload UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014094 MONDO:0016624 True severe congenital hypochromic anemia with ringed sideroblasts inherited deficiency anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11953,7 +11947,6 @@ MONDO:0014263 MONDO:0015159 True 8q24.3 microdeletion syndrome multiple congenit MONDO:0014263 MONDO:0016907 True 8q24.3 microdeletion syndrome partial deletion of the long arm of chromosome 8 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014264 MONDO:0005349 True otosclerosis 10 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014265 MONDO:0004975 True Alzheimer disease 18 Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0014267 MONDO:0044201 True severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014268 MONDO:0015131 True combined immunodeficiency due to OX40 deficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014269 MONDO:0000732 True combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014270 MONDO:0005500 True STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -11986,7 +11979,7 @@ MONDO:0014295 MONDO:0015150 True hereditary spastic paraplegia 57 complex heredi MONDO:0014296 MONDO:0016649 True Warburg micro syndrome 4 Warburg micro syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014297 MONDO:0018772 True Joubert syndrome 22 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014298 MONDO:0015159 True chromosome 5q12 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014299 MONDO:0008075 True schwannomatosis 2 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014299 MONDO:0008075 True LZTR1-related schwannomatosis schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014300 MONDO:0005336 True proximal myopathy with extrapyramidal signs myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014302 MONDO:0015149 True hereditary spastic paraplegia 62 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014303 MONDO:0015150 True hereditary spastic paraplegia 64 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12491,6 +12484,7 @@ MONDO:0014848 MONDO:0015159 True TELO2-related intellectual disability-neurodeve MONDO:0014851 MONDO:0000212 True hypercalcemia, infantile, 2 hypercalcemia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014853 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 70 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014854 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 66 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014855 MONDO:0015653 True intellectual disability, autosomal dominant 42 monogenic epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014856 MONDO:0000732 True combined oxidative phosphorylation defect type 30 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014858 MONDO:0015802 True intellectual disability, autosomal dominant 43 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014859 MONDO:0100062 True developmental and epileptic encephalopathy, 37 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -12741,7 +12735,6 @@ MONDO:0015232 MONDO:0019054 True radial deficiency-tibial hypoplasia syndrome co MONDO:0015233 MONDO:0015159 True caudal appendage-deafness syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015234 MONDO:0015159 True arachnodactyly-abnormal ossification-intellectual disability syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015236 MONDO:0020292 True aortic arch defects congenital anomaly of the great arteries UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015238 MONDO:0015161 True arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015239 MONDO:0016581 True abnormal origin of the pulmonary artery conotruncal heart malformations UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015240 MONDO:0015161 True digitotalar dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015240 MONDO:0019942 True digitotalar dysmorphism distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED @@ -12979,9 +12972,6 @@ MONDO:0015630 MONDO:0013304 True von Willebrand disease type 2M von Willebrand d MONDO:0015631 MONDO:0013304 True von Willebrand disease type 2N von Willebrand disease 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015632 MONDO:0016387 True FASTKD2-related infantile mitochondrial encephalomyopathy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015636 MONDO:0016075 True dirofilariasis filariasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED -MONDO:0015637 MONDO:0015642 True benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015638 MONDO:0015637 True benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015639 MONDO:0015637 True benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015640 MONDO:0015642 True benign infantile seizures associated with mild gastroenteritis benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015641 MONDO:0015642 True benign infantile focal epilepsy with midline spikes and wave during sleep benign partial infantile seizures UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015642 MONDO:0020071 True benign partial infantile seizures infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14803,6 +14793,7 @@ MONDO:0018576 MONDO:0016387 True non-progressive predominantly posterior cavitat MONDO:0018576 MONDO:0019046 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018576 MONDO:0020127 True non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018581 MONDO:0008491 True progressive encephalomyelitis with rigidity and myoclonus stiff-person syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018582 MONDO:0003847 True GCGR-related hyperglucagonemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018586 MONDO:0019268 True zinc-responsive necrolytic acral erythema epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018587 MONDO:0015923 True non-recovering obstetric brachial plexus lesion acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018588 MONDO:0019065 True ALECT2 amyloidosis amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15037,8 +15028,6 @@ MONDO:0018927 MONDO:0015530 True SUNCT syndrome trigeminal autonomic cephalalgia MONDO:0018929 MONDO:0018381 True medial condensing osteitis of the clavicle osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018931 MONDO:0031422 True mucolipidosis type III, alpha/beta familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0018931 MONDO:0800088 True mucolipidosis type III, alpha/beta lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016330 True cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018932 MONDO:0016338 True cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018935 MONDO:0004948 True hairy cell leukemia B-cell chronic lymphocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018936 MONDO:0000631 True osteoblastoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018937 MONDO:0019249 True mucopolysaccharidosis type 3 mucopolysaccharidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED @@ -15079,7 +15068,6 @@ MONDO:0018977 MONDO:0015923 True polyneuropathy associated with IgM monoclonal g MONDO:0018978 MONDO:0017287 True IgG4-related mediastinitis IgG4-related disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018979 MONDO:0015923 True multifocal motor neuropathy acquired peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018980 MONDO:0018237 True acrofacial dysostosis, Kennedy-Teebi type acrofacial dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018981 MONDO:0020070 True benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0001982 True Niemann-Pick disease type C Niemann-Pick disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018983 MONDO:0001584 True Tolosa-Hunt syndrome ocular motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018984 MONDO:0005664 True Oroya fever bartonellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED @@ -15969,7 +15957,6 @@ MONDO:0020532 MONDO:0000314 True spirillary rat-bite fever primary bacterial inf MONDO:0020532 MONDO:0006941 True spirillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020533 MONDO:0000314 True streptobacillary rat-bite fever primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020533 MONDO:0006941 True streptobacillary rat-bite fever rat-bite fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020535 MONDO:0017853 True house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020538 MONDO:0018171 True malignant dysgerminomatous germ cell tumor of ovary malignant germ cell tumor of ovary UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020539 MONDO:0018201 True extragonadal non-dysgerminomatous germ cell tumor extragonadal germ cell tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020540 MONDO:0021657 True ovarian gynandroblastoma ovarian sex cord-stromal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16385,7 +16372,6 @@ MONDO:0021310 MONDO:0021351 True malignant tumor of neck neoplasm of neck UNSUPP MONDO:0021311 MONDO:0021360 True malignant tumor of parathyroid gland tumor of parathyroid gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021312 MONDO:0002817 True malignant tumor of adrenal cortex adrenal gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021312 MONDO:0036591 True malignant tumor of adrenal cortex adrenal cortex neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021313 MONDO:0002235 True eyelid cancer eyelid neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021313 MONDO:0002236 True eyelid cancer ocular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021315 MONDO:0005375 True malignant tumor of nasopharynx nasopharyngeal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021315 MONDO:0005517 True malignant tumor of nasopharynx pharynx cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16822,7 +16808,7 @@ MONDO:0024503 MONDO:0021223 True digestive system neuroendocrine neoplasm digest MONDO:0024506 MONDO:0007034 True Adams-Oliver syndrome 1 Adams-Oliver syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024507 MONDO:0007119 True aniridia 1 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024508 MONDO:0013229 True epilepsy, hot water, 1 hot water reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0024517 MONDO:0008075 True schwannomatosis 1 schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0024517 MONDO:0008075 True SMARCB1-related schwannomatosis schwannomatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0024519 MONDO:0018470 True renal hypodysplasia/aplasia 1 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024520 MONDO:0018470 True renal hypodysplasia/aplasia 3 renal agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0024521 MONDO:0007031 True aortic aneurysm, familial abdominal, 1 familial abdominal aortic aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17333,6 +17319,7 @@ MONDO:0030997 MONDO:0100223 True mitochondrial complex 1 deficiency, nuclear typ MONDO:0030998 MONDO:0019587 True hearing loss, autosomal dominant 80 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031000 MONDO:0031400 True Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van-Haaften neurodevelopmental syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031003 MONDO:0100327 True hypercholanemia, familial, 2 hypercholanemia, familial UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031008 MONDO:0002350 True nephrotic syndrome, type 24 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031009 MONDO:0100326 True Glanzmann thrombasthenia 2 Glanzmann thrombasthenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031010 MONDO:0031169 True odontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031012 MONDO:0000587 True autoimmune uveitis autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18042,7 +18029,6 @@ MONDO:0044737 MONDO:0018117 True autosomal recessive complex spastic paraplegia MONDO:0044738 MONDO:0015159 True Gabriele de Vries syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044739 MONDO:0019810 True Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome toxic epidermal necrolysis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044740 MONDO:0000521 True salivary gland squamous cell carcinoma salivary gland carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044740 MONDO:0017167 True salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044743 MONDO:0004669 True major salivary gland cancer salivary gland cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044743 MONDO:0021368 True major salivary gland cancer neoplasm of major salivary gland UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044764 MONDO:0016717 True benign choroid plexus neoplasm choroid plexus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18246,6 +18232,7 @@ MONDO:0056820 MONDO:0005586 True nasal cavity and paranasal sinus neoplasm head MONDO:0060455 MONDO:0000425 True X-linked congenital hemolytic anemia X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060455 MONDO:0003689 True X-linked congenital hemolytic anemia familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060486 MONDO:0015168 True arthrogryposis multiplex congenita 1, neurogenic, with myelin defect arthrogryposis multiplex congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0060489 MONDO:0003847 True 46,XX sex reversal 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060489 MONDO:0100249 True 46,XX sex reversal 4 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0060502 MONDO:0015159 True neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060533 MONDO:0003847 True microcephaly, short stature, and limb abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18391,6 +18378,7 @@ MONDO:0100567 MONDO:0019623 True hereditary angioedema with normal C1Inh heredit MONDO:0200000 MONDO:0003612 True uterine ligament adenosarcoma uterine ligament cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0600030 MONDO:0004947 True B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-cell acute lymphoblastic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0700088 MONDO:0015427 True paroxysmal nonkinesigenic dyskinesia paroxysmal dyskinesia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700090 MONDO:0005115 True epilepsy, familial temporal lobe, 1 temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0700112 MONDO:0018677 True heterotaxy, visceral, 5, autosomal visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0700117 MONDO:0005395 True SLC6A3-related dopamine transporter deficiency syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0700135 MONDO:0700134 True bovine leukemia bovine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18446,7 +18434,6 @@ MONDO:0800167 MONDO:0800166 True Knobloch syndrome 1 Knobloch syndrome UNSUPPORT MONDO:0800198 MONDO:0004907 True alopecia universalis alopecia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800305 MONDO:0009692 True myelofibrosis with myeloid metaplasia primary myelofibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800306 MONDO:0009697 True myoclonic epilepsy of Lafora 2 Lafora disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0800341 MONDO:0019952 True congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800366 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800372 MONDO:0018772 True Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800436 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18555,7 +18542,6 @@ MONDO:0850368 MONDO:0019065 True immunoglobulin heavy-and-light chain amyloidosi MONDO:0850371 MONDO:0005010 True nonobstructive coronary artery disease coronary artery disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0850388 MONDO:0004378 True childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered pediatric cerebral ependymoblastoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0850416 MONDO:0000568 True autoimmune epilepsy autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0850416 MONDO:0005027 True autoimmune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0850417 MONDO:0018076 True tuberculous encephalopathy tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0850418 MONDO:0018905 True diffuse large B-cell lymphoma activated B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0850419 MONDO:0018905 True diffuse large B-cell lymphoma germinal center B-cell type diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18704,7 +18690,7 @@ MONDO:0859564 MONDO:0859390 True epilepsy, X-linked 2, with or without impaired MONDO:0859565 MONDO:0020290 True atrioventricular septal defect familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859567 MONDO:0031329 True craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859568 MONDO:0031166 True macular dystrophy, retinal, 4 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859569 MONDO:0031646 True braddock-carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859569 MONDO:0031646 True Braddock-Carey syndrome 1 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859570 MONDO:0031646 True braddock-carey syndrome 2 Braddock-Carey syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859571 MONDO:0005711 True diaphragmatic hernia 4, with cardiovascular defects congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859572 MONDO:0031323 True cardiac valvular dysplasia 2 cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19015,6 +19001,7 @@ MONDO:0968946 MONDO:0100062 True developmental and epileptic encephalopathy 115 MONDO:0968955 MONDO:0019507 True hypocalcified amelogenesis imperfecta amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968959 MONDO:0020022 True isolated arhinencephaly central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968974 MONDO:0004095 True large B-cell lymphoma B-cell neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0968977 MONDO:0008947 True basal ganglia calcification, idiopathic, 9, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0968980 MONDO:0005349 True otosclerosis 12 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0968981 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 124 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0968983 MONDO:0009726 True proteasome-associated autoinflammatory syndrome 6 proteosome-associated autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19191,7 +19178,6 @@ MONDO:0000166 MONDO:0005560 False encephalopathy, acute, infection-induced brain MONDO:0000166 MONDO:0020683 False encephalopathy, acute, infection-induced acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0021669 False encephalopathy, acute, infection-induced post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0100545 False encephalopathy, acute, infection-induced hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000169 MONDO:0000062 False microphthalmia, isolated, with cataract isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0000062 False microphthalmia, isolated, with coloboma isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000170 MONDO:0001476 False microphthalmia, isolated, with coloboma coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000173 MONDO:0018276 False muscular dystrophy-dystroglycanopathy, type C muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20748,7 +20734,7 @@ MONDO:0004852 MONDO:0024295 False gonococcal keratitis skin disease caused by ba MONDO:0004853 MONDO:0004277 False gonococcal endophthalmia gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0004854 MONDO:0015455 False ophthalmia neonatorum gonococcal conjunctivitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004855 MONDO:0024876 False tenosynovitis tendon sheath disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0004857 MONDO:0100010 False tendinitis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0004857 MONDO:0100010 False tendinitis disease of the tendon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004860 MONDO:0044137 False vitreous disorder vitreous body disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004862 MONDO:0005227 False vitreous abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0004877 MONDO:0024277 False transient neonatal thrombocytopenia neonatal thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22028,6 +22014,7 @@ MONDO:0007066 MONDO:0003847 False adenosine triphosphatase deficiency, anemia du MONDO:0007067 MONDO:0016789 False pyruvate kinase hyperactivity pyruvate metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007070 MONDO:0000652 False adiposis dolorosa integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007071 MONDO:0015129 False adrenocortical hypofunction, chronic primary congenital chronic primary adrenal insufficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007072 MONDO:1040001 False ADULT syndrome TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007073 MONDO:0015160 False Hypoglossia-hypodactyly syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007073 MONDO:0019713 False Hypoglossia-hypodactyly syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007074 MONDO:0005093 False ainhum skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -22070,6 +22057,7 @@ MONDO:0007120 MONDO:0003847 False aniridia-absent patella syndrome hereditary di MONDO:0007121 MONDO:0003847 False aniridia, microcornea, and spontaneously Reabsorbed cataract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007122 MONDO:0003847 False anisocoria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007123 MONDO:0002254 False ankyloblepharon filiforme adnatum-cleft palate syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007124 MONDO:1040001 False ankyloblepharon-ectodermal defects-cleft lip/palate syndrome TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007125 MONDO:0003847 False ankyloglossia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0002185 False diffuse idiopathic skeletal hyperostosis hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007127 MONDO:0003847 False diffuse idiopathic skeletal hyperostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -22255,6 +22243,7 @@ MONDO:0007345 MONDO:0005561 False aorta coarctation aortic disorder UNSUPPORTED- MONDO:0007346 MONDO:0000426 False cochleosaccular degeneration-cataract syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007346 MONDO:0002254 False cochleosaccular degeneration-cataract syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007350 MONDO:0001476 False coloboma, ocular, autosomal dominant coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007350 MONDO:0003847 False coloboma, ocular, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0001476 False coloboma of macula coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007351 MONDO:0020242 False coloboma of macula hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007353 MONDO:0020242 False coloboma of macula-brachydactyly type B syndrome hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22298,6 +22287,7 @@ MONDO:0007403 MONDO:0005395 False inherited Creutzfeldt-Jakob disease movement d MONDO:0007406 MONDO:0003847 False cryofibrinogenemia, familial primary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007406 MONDO:0022904 False cryofibrinogenemia, familial primary cryofibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007408 MONDO:0003847 False cryptotia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007410 MONDO:0003847 False isolated cryptophthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007414 MONDO:0003157 False Gorham-Stout disease disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0005554 False Gorham-Stout disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007416 MONDO:0005334 False Balkan nephropathy hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22384,6 +22374,7 @@ MONDO:0007505 MONDO:0003847 False earring holes, natural hereditary disease UNSU MONDO:0007507 MONDO:0100118 False absence of fingerprints-congenital milia syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007508 MONDO:0004747 False Rapp-Hodgkin syndrome cleft lip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007508 MONDO:0016064 False Rapp-Hodgkin syndrome cleft palate UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007508 MONDO:1040001 False Rapp-Hodgkin syndrome TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007509 MONDO:0015884 False ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant autosomal dominant hypohidrotic ectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007512 MONDO:0003847 False ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007513 MONDO:0003847 False ectodermal dysplasia with adrenal cyst hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22419,6 +22410,7 @@ MONDO:0007546 MONDO:0023603 False myeloproliferative disorder, chronic, with eos MONDO:0007547 MONDO:0003847 False epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007553 MONDO:0003847 False epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007562 MONDO:0022800 False multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007564 MONDO:0100118 False pilomatrixoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007566 MONDO:0015356 False multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007569 MONDO:0003847 False erythema nodosum, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007570 MONDO:0005093 False erythema palmare hereditarium skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22554,6 +22546,7 @@ MONDO:0007741 MONDO:0005510 False congenital hydronephrosis hydronephrosis UNSUP MONDO:0007742 MONDO:0003847 False 5-hydroxytryptamine oxygenase regulator hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007743 MONDO:0000592 False attention deficit-hyperactivity disorder specific developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007744 MONDO:0001336 False cholesterol-ester transfer protein deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007744 MONDO:0015903 False cholesterol-ester transfer protein deficiency hyperalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007745 MONDO:0002254 False Gilbert syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007746 MONDO:0003847 False orthostatic hypotensive disorder, Streeten type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007747 MONDO:0100118 False isolated hyperchlorhidrosis hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22682,6 +22675,7 @@ MONDO:0007906 MONDO:0021147 False familial partial lipodystrophy, Dunnigan type MONDO:0007907 MONDO:0006105 False lipoma of the conjunctiva benign conjunctival neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007907 MONDO:0021630 False lipoma of the conjunctiva lipoma of face UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007908 MONDO:0000652 False multiple symmetric lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007908 MONDO:0023603 False multiple symmetric lipomatosis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007909 MONDO:0000652 False familial multiple lipomatosis integumentary system benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007909 MONDO:0005106 False familial multiple lipomatosis lipoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007910 MONDO:0003847 False lipoprotein types--Lt system hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22760,7 +22754,7 @@ MONDO:0007992 MONDO:0005328 False microcornea-glaucoma-absent frontal sinuses sy MONDO:0007993 MONDO:0002254 False microgastria-limb reduction defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007993 MONDO:0015160 False microgastria-limb reduction defect syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007994 MONDO:0008547 False micromelic bone dysplasia with cloverleaf skull thanatophoric dysplasia type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0007995 MONDO:0000169 False microphthalmia, isolated, with cataract 1 microphthalmia, isolated, with cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0007995 MONDO:0000062 False microphthalmia, isolated, with cataract 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007995 MONDO:0016764 False microphthalmia, isolated, with cataract 1 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007996 MONDO:0003847 False microphthalmia, isolated, with corectopia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007997 MONDO:0003847 False microspherophakia with hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22824,11 +22818,11 @@ MONDO:0008066 MONDO:0003847 False nasal hyperpigmentation, familial transverse h MONDO:0008067 MONDO:0015356 False nasopharyngeal carcinoma, susceptibility to, 2 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008069 MONDO:0009723 False necrotizing encephalomyelopathy, subacute, of Leigh, adult Leigh syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008069 MONDO:0020683 False necrotizing encephalomyelopathy, subacute, of Leigh, adult acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015735 False nemaline myopathy 3 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015736 False nemaline myopathy 3 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015737 False nemaline myopathy 3 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0015738 False nemaline myopathy 3 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008070 MONDO:0100084 False nemaline myopathy 3 alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015735 False congenital myopathy 2a, typical, autosomal dominant severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015736 False congenital myopathy 2a, typical, autosomal dominant intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015737 False congenital myopathy 2a, typical, autosomal dominant typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0015738 False congenital myopathy 2a, typical, autosomal dominant childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008070 MONDO:0100084 False congenital myopathy 2a, typical, autosomal dominant alpha-actinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008071 MONDO:0005240 False autosomal dominant progressive nephropathy with hypertension kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008073 MONDO:0019236 False familial juvenile hyperuricemic nephropathy type 1 inborn disorder of purine metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008075 MONDO:0002531 False schwannomatosis skin neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23115,6 +23109,7 @@ MONDO:0008398 MONDO:0003847 False salivary substance, Clostridium botulinum type MONDO:0008399 MONDO:0020573 False sarcoidosis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008400 MONDO:0003847 False salivary duct calculi hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008401 MONDO:0003847 False pleomorphic adenoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008401 MONDO:0017168 False pleomorphic adenoma benign epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008402 MONDO:0003847 False cleft palate-large ears-small head syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0002254 False scalp defects-postaxial polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008403 MONDO:0005172 False scalp defects-postaxial polydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23135,7 +23130,6 @@ MONDO:0008424 MONDO:0003847 False sella turcica, bridged hereditary disease UNSU MONDO:0008427 MONDO:0003847 False sister chromatid exchange, frequency of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008429 MONDO:0023603 False Singleton-Merten dysplasia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008430 MONDO:0003847 False skeletal dysplasia with delayed epiphyseal and carpal bone ossification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008433 MONDO:0003847 False small cell lung carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0000508 False Smith-Magenis syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0002320 False Smith-Magenis syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008434 MONDO:0100545 False Smith-Magenis syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23177,6 +23171,8 @@ MONDO:0008487 MONDO:0003847 False polycystic ovary syndrome hereditary disease U MONDO:0008489 MONDO:0003847 False sternum, premature obliteration of sutures of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008491 MONDO:0002254 False stiff-person syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008492 MONDO:0100118 False stiff skin syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008493 MONDO:0003689 False overhydrated hereditary stomatocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0008494 MONDO:0003689 False cryohydrocytosis familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008496 MONDO:0003847 False storm syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008498 MONDO:0020573 False strabismus, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008499 MONDO:0015160 False short stature-wormian bones-dextrocardia syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23328,6 +23324,8 @@ MONDO:0008641 MONDO:0700256 False retinal vasculopathy with cerebral leukoenceph MONDO:0008641 MONDO:0957408 False retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations type 1 interferonopathy of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008643 MONDO:0003847 False veins, pattern of, on anterior thorax hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008644 MONDO:0018923 False velocardiofacial syndrome 22q11.2 deletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008644 MONDO:0100545 False velocardiofacial syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008644 MONDO:0100547 False velocardiofacial syndrome cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0005477 False ventricular tachycardia, familial ventricular tachycardia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008648 MONDO:0100547 False ventricular tachycardia, familial cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008649 MONDO:0003847 False venular insufficiency, systemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23612,6 +23610,7 @@ MONDO:0008986 MONDO:0003847 False circumvallate placenta syndrome hereditary dis MONDO:0008988 MONDO:0800153 False citrullinemia type I urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008989 MONDO:0003847 False citrulline transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008990 MONDO:0016060 False cleft larynx, posterior laryngotracheoesophageal cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008992 MONDO:0003847 False Juberg-Hayward syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008993 MONDO:0021147 False cleft palate-stapes fixation-oligodontia syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008994 MONDO:0005516 False cleidocranial dysplasia, recessive form osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008999 MONDO:0000508 False Cohen syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23984,7 +23983,6 @@ MONDO:0009450 MONDO:0016575 False ciliary dyskinesia with excessively long cilia MONDO:0009452 MONDO:0005046 False Vici syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009453 MONDO:0003847 False immune deficiency disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009453 MONDO:0005046 False immune deficiency disease immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009455 MONDO:0003847 False immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009456 MONDO:0009973 False Immunoerythromyeloid hypoplasia reticular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0009457 MONDO:0003847 False immunoglobulin d level in plasma, low hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009458 MONDO:0016761 False Schimke immuno-osseous dysplasia spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -24172,10 +24170,7 @@ MONDO:0009693 MONDO:0000621 False plasma cell myeloma immune system cancer UNSUP MONDO:0009694 MONDO:0003847 False myeloperoxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009694 MONDO:0024626 False myeloperoxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009695 MONDO:0020076 False myeloproliferative disease, autosomal recessive myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0000414 False juvenile myoclonic epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009696 MONDO:0005579 False juvenile myoclonic epilepsy idiopathic generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0009696 MONDO:0100030 False juvenile myoclonic epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009696 MONDO:0100573 False juvenile myoclonic epilepsy combined generalized and focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009697 MONDO:0002412 False Lafora disease disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009697 MONDO:0005395 False Lafora disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009698 MONDO:0005395 False Unverricht-Lundborg syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -24209,12 +24204,11 @@ MONDO:0009719 MONDO:0100547 False familial atrial myxoma cardiogenetic disease U MONDO:0009721 MONDO:0002254 False Nathalie syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009722 MONDO:0002320 False Bailey-Bloch congenital myopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009722 MONDO:0100545 False Bailey-Bloch congenital myopathy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009724 MONDO:0005240 False nail-patella-like renal disease kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009724 MONDO:0100191 False nail-patella-like renal disease inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015735 False nemaline myopathy 2 severe congenital nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015736 False nemaline myopathy 2 intermediate nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015737 False nemaline myopathy 2 typical nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009725 MONDO:0015738 False nemaline myopathy 2 childhood-onset nemaline myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009726 MONDO:0005046 False proteosome-associated autoinflammatory syndrome immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009726 MONDO:0023603 False proteosome-associated autoinflammatory syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0000226 False atelosteogenesis type II mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009727 MONDO:0019052 False atelosteogenesis type II inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24755,6 +24749,7 @@ MONDO:0010483 MONDO:0020119 False X-linked intellectual disability, Cantagrel ty MONDO:0010490 MONDO:0015327 False SSR4-congenital disorder of glycosylation developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0000425 False X-linked acrogigantism due to Xq26 microduplication X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010491 MONDO:0017010 False X-linked acrogigantism due to Xq26 microduplication partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010494 MONDO:1040023 False linear skin defects with multiple congenital anomalies 3 NDUFB11-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010496 MONDO:0002320 False X-linked intellectual disability-short stature-overweight syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010497 MONDO:0019181 False intellectual disability, X-linked 102 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010501 MONDO:0002320 False syndromic X-linked intellectual disability 34 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25062,7 +25057,6 @@ MONDO:0010889 MONDO:0005385 False arterial dissection-lentiginosis syndrome vasc MONDO:0010891 MONDO:0002254 False lethal hemolytic anemia-genital anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010891 MONDO:0003664 False lethal hemolytic anemia-genital anomalies syndrome hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010896 MONDO:0003847 False pigment dispersion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010898 MONDO:0005115 False autosomal dominant epilepsy with auditory features temporal lobe epilepsy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010900 MONDO:0019342 False intrauterine growth retardation with increased mitomycin c sensitivity Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010901 MONDO:0002254 False HEC syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010902 MONDO:0016761 False spondyloepiphyseal dysplasia, Reardon type spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25129,6 +25123,7 @@ MONDO:0010983 MONDO:0017706 False dystonia 9 disorder of carbohydrate transmembr MONDO:0010988 MONDO:0007145 False aplasia cutis-myopia syndrome aplasia cutis congenita UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010991 MONDO:0018677 False laterality defects, autosomal dominant visceral heterotaxy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010992 MONDO:0015159 False Ayme-Gripp syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010996 MONDO:0019180 False hereditary hemorrhagic telangiectasia type 3 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011000 MONDO:0003847 False guanylate cyclase 2E hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0002316 False neuropathy, hereditary motor and sensory, type 6A motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011002 MONDO:0019551 False neuropathy, hereditary motor and sensory, type 6A hereditary motor and sensory neuropathy type 6 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25180,6 +25175,8 @@ MONDO:0011053 MONDO:0002320 False intellectual disability-sparse hair-brachydact MONDO:0011053 MONDO:0100545 False intellectual disability-sparse hair-brachydactyly syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011053 MONDO:0700120 False intellectual disability-sparse hair-brachydactyly syndrome BAFopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011054 MONDO:0006025 False autosomal recessive amelia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0018234 False autosomal recessive amelia dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011054 MONDO:0019054 False autosomal recessive amelia congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011055 MONDO:0003847 False distal monosomy 10p hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011057 MONDO:0043218 False cerebrovascular disorder neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011060 MONDO:0005129 False early-onset non-syndromic cataract cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -25440,6 +25437,7 @@ MONDO:0011422 MONDO:0019052 False autosomal recessive proximal renal tubular aci MONDO:0011424 MONDO:0021058 False Carney triad neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011426 MONDO:0004884 False aceruloplasminemia eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011427 MONDO:0020573 False Ascaris lumbricoides infection, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011428 MONDO:1040001 False ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011429 MONDO:0005554 False juvenile idiopathic arthritis rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011429 MONDO:0700007 False juvenile idiopathic arthritis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011431 MONDO:0016663 False MASS syndrome overlapping connective tissue disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25493,6 +25491,7 @@ MONDO:0011501 MONDO:0003847 False wormian bone-multiple fractures-dentinogenesis MONDO:0011504 MONDO:0015660 False NDE1-related microhydranencephaly sporadic fetal brain disruption sequence UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011504 MONDO:0700116 False NDE1-related microhydranencephaly microcephaly with lissencephaly and/or hydranencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011506 MONDO:0016022 False familial infantile myoclonic epilepsy early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011506 MONDO:0100545 False familial infantile myoclonic epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011507 MONDO:0003847 False diabetes mellitus, congenital autoimmune hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011508 MONDO:0018908 False lymphoma, non-Hodgkin, familial non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011509 MONDO:0003847 False low density lipoprotein cholesterol, mild elevation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25516,6 +25515,7 @@ MONDO:0011530 MONDO:0023599 False mesomelic dysplasia, Savarirayan type mesomeli MONDO:0011533 MONDO:0005172 False temtamy preaxial brachydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011534 MONDO:0002316 False Charcot-Marie-Tooth disease type 4G motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011534 MONDO:0017688 False Charcot-Marie-Tooth disease type 4G disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011535 MONDO:1040001 False split hand-foot malformation 4 TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011537 MONDO:0021147 False macrocephaly-autism syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011538 MONDO:0003847 False frontoocular syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011542 MONDO:0100171 False psoriasis 6, susceptibility to psoriasis, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25552,7 +25552,9 @@ MONDO:0011600 MONDO:1040021 False congenital myasthenic syndrome 4A congenital m MONDO:0011603 MONDO:0007827 False GNE myopathy inclusion body myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011603 MONDO:0009332 False GNE myopathy congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0020247 False spondylo-ocular syndrome congenital vitreoretinal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011604 MONDO:0023603 False spondylo-ocular syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011604 MONDO:0800064 False spondylo-ocular syndrome osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011604 MONDO:1040022 False spondylo-ocular syndrome linkeropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011605 MONDO:0100118 False generalized basaloid follicular hamartoma syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011606 MONDO:0007037 False baby rattle pelvis dysplasia Achondroplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011607 MONDO:0100049 False narcolepsy 2, susceptibility to narcolepsy, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25628,6 +25630,7 @@ MONDO:0011715 MONDO:0800063 False Seckel syndrome 2 primordial dwarfism and slen MONDO:0011716 MONDO:0003337 False acute hemorrhagic leukoencephalitis acute hemorrhagic encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011717 MONDO:0800153 False hyperinsulinism-hyperammonemia syndrome urea cycle disorder or inherited hyperammonemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011719 MONDO:0003847 False gastrointestinal stromal tumor hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011723 MONDO:0003847 False hemifacial myohyperplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011723 MONDO:0019716 False hemifacial myohyperplasia overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011726 MONDO:0003847 False peripheral arterial occlusive disease 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011727 MONDO:0020573 False anorexia nervosa, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25732,7 +25735,6 @@ MONDO:0011885 MONDO:0005240 False tubulointerstitial nephritis and uveitis syndr MONDO:0011887 MONDO:0003847 False cataract, congenital, with mental impairment and dentate gyrus atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011889 MONDO:0011909 False Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011892 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011893 MONDO:0019587 False autosomal dominant nonsyndromic hearing loss 52 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011895 MONDO:0005110 False idiopathic hypereosinophilic syndrome idiopathic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011895 MONDO:0016340 False idiopathic hypereosinophilic syndrome familial restrictive cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011896 MONDO:0020573 False Parkinson disease 11, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25743,7 +25745,6 @@ MONDO:0011899 MONDO:0015160 False Noonan syndrome-like disorder with loose anage MONDO:0011900 MONDO:0019212 False porokeratosis 4, disseminated superficial actinic type disseminated superficial actinic porokeratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011903 MONDO:0011909 False Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease dominant intermediate D UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011908 MONDO:0020311 False juvenile myelomonocytic leukemia chronic myelomonocytic leukemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011908 MONDO:0023603 False juvenile myelomonocytic leukemia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011913 MONDO:0015140 False Alzheimer disease 3 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0007670 False hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011914 MONDO:0019313 False hypotrichosis-lymphedema-telangiectasia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -25781,8 +25782,11 @@ MONDO:0011957 MONDO:1040053 False retinal macular dystrophy type 2 PROM1-related MONDO:0011958 MONDO:0003847 False bile and pancreatic ducts, complete absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011959 MONDO:0002254 False sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011959 MONDO:0005554 False sweet syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0011959 MONDO:0023603 False sweet syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011959 MONDO:0100118 False sweet syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011961 MONDO:0018213 False hereditary sensory and autonomic neuropathy type 1B hereditary sensory and autonomic neuropathy type 1 UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011963 MONDO:0009480 False Joubert syndrome 2 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0011970 MONDO:0100545 False rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011972 MONDO:0003847 False ovarian hyperstimulation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011973 MONDO:0003847 False zinc deficiency, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011974 MONDO:1040055 False retinitis pigmentosa 7 PRPH2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25951,6 +25955,7 @@ MONDO:0012240 MONDO:0015738 False congenital myopathy 23 childhood-onset nemalin MONDO:0012240 MONDO:0100196 False congenital myopathy 23 TPM2-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012241 MONDO:0008003 False progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 autosomal dominant progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012242 MONDO:0003847 False syncope, familial vasovagal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012243 MONDO:0002254 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012243 MONDO:0003847 False B-cell immunodeficiency, distal limb anomalies, and urogenital malformations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012244 MONDO:0700275 False prostate cancer, hereditary, 5 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012245 MONDO:0016022 False developmental and epileptic encephalopathy, 3 early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -26493,6 +26498,7 @@ MONDO:0013121 MONDO:0000365 False glaucoma 3, primary congenital, C primary cong MONDO:0013122 MONDO:0000365 False glaucoma 3, primary congenital, D primary congenital glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013122 MONDO:0100236 False glaucoma 3, primary congenital, D LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013124 MONDO:0020573 False pelvic organ prolapse, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013125 MONDO:0003847 False CLAPO syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013129 MONDO:0000455 False cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013129 MONDO:1040028 False cone dystrophy 4 PDE6C-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013130 MONDO:0016764 False isolated microphthalmia 4 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26676,6 +26682,7 @@ MONDO:0013463 MONDO:0000119 False congenital heart defects, multiple types, 6 co MONDO:0013463 MONDO:0019443 False congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013465 MONDO:0800392 False achromatopsia 4 GNAT2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013468 MONDO:0002320 False retinitis pigmentosa 59 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013468 MONDO:1010097 False retinitis pigmentosa 59 DHDDS-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013468 MONDO:1040054 False retinitis pigmentosa 59 DHDDS-CDG UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013469 MONDO:0800394 False retinitis pigmentosa 38 MERTK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013473 MONDO:0003847 False Hirschsprung disease, cardiac defects, and autonomic dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26992,11 +26999,11 @@ MONDO:0014071 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congeni MONDO:0014075 MONDO:0011060 False cataract 39 multiple types early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014076 MONDO:0800467 False dyskeratosis congenita, autosomal recessive 5 dyskeratosis congenita and related telomere biology disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014078 MONDO:0015372 False platelet-type bleeding disorder 15 autosomal dominant macrothrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014081 MONDO:0044201 False severe combined immunodeficiency due to CARD11 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014083 MONDO:0011096 False agammaglobulinemia 7, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014086 MONDO:0800064 False osteogenesis imperfecta type 15 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014090 MONDO:0019673 False polydactyly, postaxial, type A6 postaxial polydactyly type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014091 MONDO:0000066 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4B mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014091 MONDO:0020727 False mitochondrial complex V (ATP synthase) deficiency nuclear type 4B combined oxidative phosphorylation deficiency 22 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014092 MONDO:0100182 False schizophrenia 18 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014094 MONDO:0000577 False severe congenital hypochromic anemia with ringed sideroblasts congenital anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014096 MONDO:0015159 False microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27043,7 +27050,6 @@ MONDO:0014196 MONDO:0002254 False Hartsfield-Bixler-Demyer syndrome syndromic di MONDO:0014196 MONDO:0018230 False Hartsfield-Bixler-Demyer syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014201 MONDO:0002320 False developmental and epileptic encephalopathy, 18 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014201 MONDO:0015159 False developmental and epileptic encephalopathy, 18 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014201 MONDO:0020071 False developmental and epileptic encephalopathy, 18 infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014204 MONDO:0700007 False basal ganglia calcification, idiopathic, 5 idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014206 MONDO:0012580 False severe early-onset pulmonary alveolar proteinosis due to MARS deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014210 MONDO:0000508 False intellectual disability-hypotonia-spasticity-sleep disorder syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27085,6 +27091,7 @@ MONDO:0014263 MONDO:0100547 False 8q24.3 microdeletion syndrome cardiogenetic di MONDO:0014265 MONDO:0015547 False Alzheimer disease 18 hereditary dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014265 MONDO:0024237 False Alzheimer disease 18 inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014266 MONDO:0100174 False age related macular degeneration 15 age related macular degeneration, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014267 MONDO:0044201 False severe combined immunodeficiency due to IKK2 deficiency T+ B+ severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014274 MONDO:0003847 False L-ferritin deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014275 MONDO:0007600 False Fanconi renotubular syndrome 3 primary Fanconi syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014278 MONDO:0015703 False immunodeficiency 18 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27117,6 +27124,8 @@ MONDO:0014333 MONDO:0100545 False polymicrogyria, bilateral perisylvian, autosom MONDO:0014335 MONDO:0002254 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014335 MONDO:0024237 False diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014342 MONDO:0021124 False female infertility due to zona pellucida defect female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014343 MONDO:0023603 False Desbuquois dysplasia 2 hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014343 MONDO:1040022 False Desbuquois dysplasia 2 linkeropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0000119 False congenital heart defects, multiple types, 4 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014344 MONDO:0020290 False congenital heart defects, multiple types, 4 familial atrioventricular septal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014345 MONDO:0700232 False retinitis pigmentosa 69 KIZ-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27610,9 +27619,11 @@ MONDO:0015228 MONDO:0700085 False pentasomy X pentasomy UNSUPPORTED-MISSING UNSU MONDO:0015230 MONDO:0002254 False anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015231 MONDO:0002254 False Bartter syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015232 MONDO:0003847 False radial deficiency-tibial hypoplasia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015235 MONDO:0002254 False arachnodactyly-intellectual disability-dysmorphism syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015235 MONDO:0015160 False arachnodactyly-intellectual disability-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015236 MONDO:0022606 False aortic arch defects branchial arch disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015237 MONDO:0024623 False arrhinia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015238 MONDO:0015161 False arrhinia-choanal atresia-microphthalmia syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015244 MONDO:0100310 False autosomal recessive cerebellar ataxia hereditary cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015247 MONDO:0005395 False opsoclonus-myoclonus syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015248 MONDO:0002254 False ataxia-photosensitivity-short stature syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27822,6 +27833,9 @@ MONDO:0015635 MONDO:0005073 False porokeratotic eccrine ostial and dermal duct n MONDO:0015635 MONDO:0024247 False porokeratotic eccrine ostial and dermal duct nevus benign eccrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015635 MONDO:0024482 False porokeratotic eccrine ostial and dermal duct nevus eccrine sweat gland hamartoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015636 MONDO:0005943 False dirofilariasis Rhabditida infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015637 MONDO:0015642 False benign non-familial infantile seizures benign partial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015638 MONDO:0015637 False benign partial epilepsy of infancy with complex partial seizures benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015639 MONDO:0015637 False benign partial epilepsy with secondarily generalized seizures in infancy benign non-familial infantile seizures UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015643 MONDO:0023224 False photosensitive epilepsy inherited reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015643 MONDO:0043459 False photosensitive epilepsy radiation-induced disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015650 MONDO:0005027 False epilepsy syndrome epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27964,7 +27978,6 @@ MONDO:0015962 MONDO:0100191 False inherited renal tubular disease inherited kidn MONDO:0015967 MONDO:0005015 False monogenic diabetes diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015967 MONDO:0019052 False monogenic diabetes inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015978 MONDO:0004805 False functional neutrophil defect leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015985 MONDO:0018230 False bone dysplasia, Azouz type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015987 MONDO:0002254 False scimitar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015987 MONDO:0017705 False scimitar syndrome congenital pulmonary venous return anomaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015988 MONDO:0002473 False multicystic dysplastic kidney cystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28277,6 +28290,7 @@ MONDO:0016558 MONDO:0100545 False familial congenital mirror movements hereditar MONDO:0016559 MONDO:0009633 False glaucoma secondary to spherophakia/ectopia lentis and megalocornea microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016568 MONDO:0002254 False Lowe-Kohn-Cohen syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016568 MONDO:0021147 False Lowe-Kohn-Cohen syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016571 MONDO:0002254 False macrocephaly-short stature-paraplegia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016571 MONDO:0002320 False macrocephaly-short stature-paraplegia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0020683 False acute fatty liver of pregnancy acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016573 MONDO:0024575 False acute fatty liver of pregnancy pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28691,6 +28705,7 @@ MONDO:0017449 MONDO:0018234 False split hand dysostosis UNSUPPORTED-MISSING UNSU MONDO:0017450 MONDO:0018234 False split foot dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017452 MONDO:0017424 False non-syndromic brachydactyly of toes non-syndromic brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017453 MONDO:0025371 False fetal parvovirus syndrome Parvoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017454 MONDO:0003847 False triphalangeal thumb-polysyndactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017454 MONDO:0019054 False triphalangeal thumb-polysyndactyly syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017461 MONDO:0021147 False familial isolated clinodactyly of fingers disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017467 MONDO:0001411 False tibio-fibular synostosis synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29303,7 +29318,8 @@ MONDO:0018696 MONDO:0015547 False corticobasal syndrome hereditary dementia UNSU MONDO:0018696 MONDO:0024237 False corticobasal syndrome inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0003847 False hereditary neuroendocrine tumor of small intestine hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018698 MONDO:0018510 False hereditary neuroendocrine tumor of small intestine small intestine neuroendocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018702 MONDO:0007179 False Castleman-Kojima disease autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018702 MONDO:0017979 False Castleman-Kojima disease autoimmune lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018702 MONDO:0035838 False Castleman-Kojima disease idiopathic multicentric Castleman disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018703 MONDO:0021147 False isolated splenogonadal fusion disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018709 MONDO:0020119 False X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018710 MONDO:0014863 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome macrocephaly, dysmorphic facies, and psychomotor retardation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29438,6 +29454,8 @@ MONDO:0018926 MONDO:0024619 False human prion disease central nervous system inf MONDO:0018927 MONDO:0002254 False SUNCT syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018930 MONDO:0700124 False monosomy 21 chromosome 21 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018931 MONDO:0100122 False mucolipidosis type III, alpha/beta GNPTAB-mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016330 False cirrhotic cardiomyopathy non-familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018932 MONDO:0016338 False cirrhotic cardiomyopathy non-familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0003847 False Mazabraud syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018933 MONDO:0006424 False Mazabraud syndrome soft tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018937 MONDO:0002254 False mucopolysaccharidosis type 3 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -29478,6 +29496,7 @@ MONDO:0018974 MONDO:0700266 False paraneoplastic pemphigus paraneoplastic cutane MONDO:0018975 MONDO:0021635 False neurofibromatosis type 1 neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018976 MONDO:0002254 False schisis association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018978 MONDO:0005087 False IgG4-related mediastinitis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018981 MONDO:0020070 False benign idiopathic neonatal seizures neonatal epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018981 MONDO:0700007 False benign idiopathic neonatal seizures idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0006025 False Niemann-Pick disease type C autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018983 MONDO:0002254 False Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -30247,6 +30266,7 @@ MONDO:0020523 MONDO:0003847 False familial parathyroid adenoma hereditary diseas MONDO:0020523 MONDO:0006890 False familial parathyroid adenoma parathyroid gland adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020531 MONDO:0024573 False long chain acyl-CoA dehydrogenase deficiency familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020533 MONDO:0001667 False streptobacillary rat-bite fever streptobacillus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020535 MONDO:0017853 False house allergic alveolitis hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020539 MONDO:0021656 False extragonadal non-dysgerminomatous germ cell tumor nongerminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020541 MONDO:0021069 False maligant granulosa cell tumor of ovary malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020542 MONDO:0036595 False malignant Sertoli-Leydig cell tumor of ovary ovarian Sertoli-Leydig cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30624,6 +30644,7 @@ MONDO:0021301 MONDO:0000652 False adenoma of nipple integumentary system benign MONDO:0021301 MONDO:0002058 False adenoma of nipple breast adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021311 MONDO:0021069 False malignant tumor of parathyroid gland malignant endocrine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021313 MONDO:0002898 False eyelid cancer skin cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021313 MONDO:0020172 False eyelid cancer palpebral epidermal tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021316 MONDO:0004727 False malignant tumor of minor salivary gland vestibule of mouth cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021320 MONDO:0002516 False malignant tumor of floor of mouth digestive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021321 MONDO:0003059 False malignant tumor of extrahepatic bile duct bile duct cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31431,7 +31452,7 @@ MONDO:0024626 MONDO:0024627 False defective phagocytic cell engulfment phagocyti MONDO:0024627 MONDO:0005046 False phagocytic cell dysfunction immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024630 MONDO:0024627 False defective phagocytic cell chemotaxis phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024632 MONDO:0024627 False defective phagocytic cell opsonization phagocytic cell dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024633 MONDO:0100191 False hypertensive nephropathy inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024633 MONDO:0005240 False hypertensive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024634 MONDO:0005020 False large intestine disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024635 MONDO:0005020 False small intestine disorder intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024636 MONDO:0005267 False inflammation of heart layer heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31466,7 +31487,7 @@ MONDO:0024857 MONDO:0003578 False immature extragonadal teratoma extragonadal no MONDO:0024863 MONDO:0003927 False small size posterior uveal melanoma posterior uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024864 MONDO:0003927 False medium/large size posterior uveal melanoma posterior uveal melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024868 MONDO:0004202 False metastatic carcinoma in the adrenal medulla adrenal medulla carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024876 MONDO:0100010 False tendon sheath disorder tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024876 MONDO:0100010 False tendon sheath disorder disease of the tendon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024877 MONDO:0021049 False clitoris neoplasm vulvar neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024882 MONDO:0023370 False secondary neoplasm neoplastic disease or syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024883 MONDO:0024882 False metastatic neoplasm secondary neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31487,16 +31508,14 @@ MONDO:0024934 MONDO:0005583 False fish disease non-human animal disease UNSUPPOR MONDO:0024935 MONDO:0024913 False foot rot cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024935 MONDO:0024985 False foot rot sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024935 MONDO:0024990 False foot rot swine disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024945 MONDO:1011311 False hepatitis, non-human animal digestive system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024945 MONDO:1011317 False hepatitis, non-human animal endocrine system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024945 MONDO:1011327 False hepatitis, non-human animal inflammatory disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024945 MONDO:1012967 False hepatitis, non-human animal liver disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024950 MONDO:0005583 False horse disease non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024953 MONDO:0005583 False lameness, non-human animal non-human animal disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024954 MONDO:0005988 False larva migrans, visceral toxocariasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024954 MONDO:0018500 False larva migrans, visceral cutaneous larva migrans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024965 MONDO:1010195 False muscular dystrophy, non-human animal myopathy, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024965 MONDO:1011321 False muscular dystrophy, non-human animal hereditary disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0024965 MONDO:1011336 False muscular dystrophy, non-human animal nervous system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024965 MONDO:1012972 False muscular dystrophy, non-human animal hereditary neurological disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024969 MONDO:0700049 False parasitic disease, non-human animal infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024971 MONDO:0024913 False parturient paresis cattle disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024971 MONDO:0024985 False parturient paresis sheep disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31637,6 +31656,7 @@ MONDO:0025986 MONDO:0021189 False megacystis-microcolon-intestinal hypoperistals MONDO:0026045 MONDO:0005093 False prurigo nodularis skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026404 MONDO:0100209 False X inactivation, familial skewed, 1 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026426 MONDO:0100209 False X inactivation, familial skewed, 2 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0026721 MONDO:1040023 False mitochondrial complex 1 deficiency, nuclear type 30 NDUFB11-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31707,12 +31727,14 @@ MONDO:0030334 MONDO:0800174 False encephalitis, acute, infection (viral)-induced MONDO:0030341 MONDO:0002320 False myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030362 MONDO:0700263 False Aicardi-Goutieres syndrome 9 RNU7-1-related type 1 interferonopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030434 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibility to, 18 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030473 MONDO:0700002 False developmental and epileptic encephalopathy 99 ATP1A3-associated neurological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030482 MONDO:1040012 False spastic paraplegia 84, autosomal recessive PI4KA-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030502 MONDO:0700064 False tetrasomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030602 MONDO:0030603 False Klebsiella pneumonia Klebsiella infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030603 MONDO:0005113 False Klebsiella infectious disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030639 MONDO:0003847 False Teebi hypertelorism syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030669 MONDO:1040012 False gastrointestinal defects and immunodeficiency syndrome 2 PI4KA-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030677 MONDO:0700277 False Charcot-Marie-Tooth disease, demyelinating, IIA 1I POLR3B-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030681 MONDO:0018037 False immunodeficiency 94 with autoinflammation and dysmorphic facies hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030700 MONDO:0002462 False autoimmune glomerulonephritis glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030701 MONDO:0000589 False autoimmune cardiomyopathy autoimmune disorder of musculoskeletal system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -31762,8 +31784,8 @@ MONDO:0030963 MONDO:0003847 False Li-Campeau syndrome hereditary disease UNSUPPO MONDO:0030966 MONDO:0003847 False neurofacioskeletal syndrome with or without renal agenesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030967 MONDO:0003847 False deafness, congenital, and adult-onset progressive leukoencephalopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030976 MONDO:0003847 False oculomotor-abducens synkinesis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030978 MONDO:1040032 False endove syndrome, limb-only type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0030979 MONDO:1040032 False endove syndrome, limb-brain type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030978 MONDO:1040032 False ENDOVE syndrome, limb-only type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030979 MONDO:1040032 False ENDOVE syndrome, limb-brain type EN1-related dorsoventral syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030981 MONDO:0015974 False immunodeficiency 79 severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0030982 MONDO:0019052 False sulfide quinone oxidoreductase deficiency inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030986 MONDO:0003847 False blistering, acantholytic, of oral and laryngeal mucosa hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31780,7 +31802,6 @@ MONDO:0031002 MONDO:0003847 False Baralle-Macken syndrome hereditary disease UNS MONDO:0031006 MONDO:0003847 False neurodegeneration with ataxia and late-onset optic atrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031007 MONDO:0002320 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031007 MONDO:0800101 False spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis NMNAT1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0031008 MONDO:0005377 False nephrotic syndrome, type 24 nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031011 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and variable seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0031012 MONDO:0020283 False autoimmune uveitis uveitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0031013 MONDO:0000568 False autoimmune optic neuritis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -31902,6 +31923,7 @@ MONDO:0032811 MONDO:0002320 False night blindness, congenital stationary, type1i MONDO:0032811 MONDO:0100453 False night blindness, congenital stationary, type1i GUCY2D-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032814 MONDO:0011057 False microangiopathy and leukoencephalopathy, pontine, autosomal dominant cerebrovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032814 MONDO:0100545 False microangiopathy and leukoencephalopathy, pontine, autosomal dominant hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0032814 MONDO:0800461 False microangiopathy and leukoencephalopathy, pontine, autosomal dominant COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032816 MONDO:0100500 False neurodevelopmental disorder with ataxia, hypotonia, and microcephaly Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032817 MONDO:0100500 False neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0032818 MONDO:0100500 False neurodevelopmental disorder with cerebellar hypoplasia and spasticity Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32041,6 +32063,8 @@ MONDO:0033938 MONDO:0020683 False acute radiation syndrome acute disease UNSUPPO MONDO:0033954 MONDO:0002254 False monoclonal mast cell activation syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033954 MONDO:0100004 False monoclonal mast cell activation syndrome mast cell activation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0033968 MONDO:0006025 False immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034021 MONDO:0023603 False spondylodysplastic Ehlers-Danlos syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0034021 MONDO:1040022 False spondylodysplastic Ehlers-Danlos syndrome linkeropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0002320 False congenital axonal neuropathy with encephalopathy congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034041 MONDO:0004183 False congenital axonal neuropathy with encephalopathy axonal neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034054 MONDO:0015974 False severe combined immunodeficiency due to CD70 deficiency severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32634,7 +32658,7 @@ MONDO:0044315 MONDO:0020573 False craniosynostosis 7 inherited disease susceptib MONDO:0044316 MONDO:0003847 False thrombocytopenia, anemia, and myelofibrosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044318 MONDO:0000508 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044318 MONDO:0002320 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044318 MONDO:0700092 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044318 MONDO:0100500 False intellectual developmental disorder with gastrointestinal difficulties and high pain threshold Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0000508 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044319 MONDO:0002320 False intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044321 MONDO:0003847 False structural heart defects and renal anomalies syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32642,7 +32666,8 @@ MONDO:0044321 MONDO:0015161 False structural heart defects and renal anomalies s MONDO:0044322 MONDO:0000508 False intellectual developmental disorder with neuropsychiatric features syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044323 MONDO:0002254 False Rahman syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044324 MONDO:0000508 False Al Kaissi syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0044326 MONDO:0700092 False developmental delay and seizures with or without movement abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044326 MONDO:0100500 False developmental delay and seizures with or without movement abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044326 MONDO:1010097 False developmental delay and seizures with or without movement abnormalities DHDDS-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044329 MONDO:0800064 False osteogenesis imperfecta, type 18 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044332 MONDO:0005395 False childhood-onset benign chorea with striatal involvement movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044333 MONDO:0010198 False alcohol-induced Wernicke-Korsakoff's syndrome Wernicke-Korsakoff syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32705,6 +32730,7 @@ MONDO:0044720 MONDO:0018751 False cerebellar ataxia with neuropathy and bilatera MONDO:0044737 MONDO:0015905 False autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044739 MONDO:0005594 False Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome severe cutaneous adverse reaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044740 MONDO:0004958 False salivary gland squamous cell carcinoma oral cavity squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0044740 MONDO:0017167 False salivary gland squamous cell carcinoma malignant epithelial tumor of salivary glands UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044742 MONDO:0006025 False autosomal recessive epidermolytic ichthyosis autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044742 MONDO:0007239 False autosomal recessive epidermolytic ichthyosis epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0044744 MONDO:0001531 False prekallikrein deficiency blood coagulation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32817,6 +32843,7 @@ MONDO:0049223 MONDO:0800064 False osteogenesis imperfecta, type 19 osteogenesis MONDO:0054549 MONDO:0100261 False peroxisome biogenesis disorder 10B peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054550 MONDO:1030002 False avascular necrosis of femoral head, primary, 1 dysplasia of the proximal femoral epiphyses UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054573 MONDO:0002254 False Lopes-Maciel-Rodan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054573 MONDO:0003847 False Lopes-Maciel-Rodan syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054581 MONDO:0800066 False Townes-Brocks syndrome 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0002254 False Stankiewicz-Isidor syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0700092 False Stankiewicz-Isidor syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32874,6 +32901,7 @@ MONDO:0060591 MONDO:0003847 False immunodeficiency, developmental delay, and hyp MONDO:0060596 MONDO:0100500 False neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060611 MONDO:0003847 False combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060621 MONDO:0100500 False neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0060622 MONDO:0100038 False neurodevelopmental disorder with severe motor impairment and absent language complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060622 MONDO:0100500 False neurodevelopmental disorder with severe motor impairment and absent language Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060624 MONDO:0100500 False neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0060627 MONDO:0002525 False glycosylphosphatidylinositol biosynthesis defect 15 inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32952,9 +32980,9 @@ MONDO:0100003 MONDO:0020573 False susceptibility to angioedema induced by ACE in MONDO:0100004 MONDO:0004805 False mast cell activation syndrome leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100006 MONDO:0100004 False secondary mast cell activation syndrome mast cell activation syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100008 MONDO:0009172 False food protein-induced enterocolitis syndrome enterocolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100010 MONDO:0002081 False tendinopathy musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100010 MONDO:0003900 False tendinopathy connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100011 MONDO:0100010 False tendinosis tendinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100010 MONDO:0002081 False disease of the tendon musculoskeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100010 MONDO:0003900 False disease of the tendon connective tissue disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100011 MONDO:0100010 False tendinosis disease of the tendon UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0000587 False autoimmune retinopathy autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0002977 False autoimmune retinopathy autoimmune disorder of the nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100014 MONDO:0005283 False autoimmune retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33281,9 +33309,8 @@ MONDO:0700149 MONDO:1012570 False canine sarcoma cancer, dog UNSUPPORTED-MISSING MONDO:0700150 MONDO:1011555 False canine mastocytoma mast cell tumor, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700151 MONDO:1011336 False canine glioma nervous system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700152 MONDO:0700099 False canine hepatocellular carcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700152 MONDO:1011311 False canine hepatocellular carcinoma digestive system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700152 MONDO:1011317 False canine hepatocellular carcinoma endocrine system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700152 MONDO:1012570 False canine hepatocellular carcinoma cancer, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700152 MONDO:1012967 False canine hepatocellular carcinoma liver disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:0700099 False canine lung adenocarcinoma adenocarcinoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:0700104 False canine lung adenocarcinoma respiratory system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700153 MONDO:1012570 False canine lung adenocarcinoma cancer, dog UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33407,6 +33434,7 @@ MONDO:0800117 MONDO:0400006 False cutaneous botryomycosis botryomycosis UNSUPPOR MONDO:0800119 MONDO:0002465 False postinfectious bronchiolitis obliterans bronchiolitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800127 MONDO:0018634 False pulmonary amyloidosis hereditary amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800129 MONDO:0019751 False autoinflammatory disease, X-linked autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800129 MONDO:0023603 False autoinflammatory disease, X-linked hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800130 MONDO:0019751 False autoinflammatory syndrome with immunodeficiency autoinflammatory syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800132 MONDO:0003847 False autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800133 MONDO:0005087 False pulmonary hypoplasia respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33469,6 +33497,7 @@ MONDO:0800331 MONDO:0004736 False hyperglycinemia, transient neonatal inborn dis MONDO:0800335 MONDO:0000700 False migraine, familial hemiplegic, 4 familial hemiplegic migraine UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800337 MONDO:0005240 False acute tubulointerstitial nephritis kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800339 MONDO:0016120 False laryngospasm, severe neonatal episodic myotonic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800341 MONDO:0100108 False congenital myopathy 4A, autosomal dominant TPM3-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800344 MONDO:0005172 False brachydactyly-syndactyly-oligodactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800345 MONDO:0018054 False atrial fibrillation, familial, 17 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800346 MONDO:0018901 False left ventricular noncompaction 9 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33583,6 +33612,7 @@ MONDO:0850225 MONDO:0004789 False autoimmune cholangitis cholangitis UNSUPPORTED MONDO:0850345 MONDO:0006279 False lung pleomorphic carcinoma lung sarcomatoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850347 MONDO:0005611 False bladder sarcomatoid transitional cell carcinoma bladder transitional cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0850415 MONDO:0100150 False rhabdomyolysis-myalgia syndrome RYR1-related myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850416 MONDO:0100028 False autoimmune epilepsy immune epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858939 MONDO:1010030 False diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype pediatric high-grade glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858950 MONDO:0043510 False traumatic brain injury brain injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0858997 MONDO:0004992 False cancer of unknown primary site cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33590,6 +33620,7 @@ MONDO:0859000 MONDO:0015159 False SLC12A2-related developmental delay-intellectu MONDO:0859004 MONDO:0002041 False invasive scopulariopsis infection fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859005 MONDO:0021004 False preaxial digit brachydactyly-webbed fingers brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859006 MONDO:0018230 False proximal femoral focal deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859046 MONDO:0003847 False rhabdomyosarcoma, embryonal, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859046 MONDO:0005212 False rhabdomyosarcoma, embryonal, 2 rhabdomyosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859050 MONDO:0020573 False Schistosoma mansoni infection, susceptibility/resistance to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859080 MONDO:0020119 False intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -33604,6 +33635,7 @@ MONDO:0859142 MONDO:0700092 False Hiatt-Neu-Cooper neurodevelopmental syndrome n MONDO:0859143 MONDO:0003847 False Radio-Tartaglia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859144 MONDO:0003847 False Buratti-Harel syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859146 MONDO:0003847 False growth restriction, hypoplastic kidneys, alopecia, and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859147 MONDO:0003847 False Marbach-Rustad progeroid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859148 MONDO:0700092 False neurodevelopmental disorder with seizures and gingival overgrowth neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859149 MONDO:0005347 False hypertriglyceridemia 2 hypertriglyceridemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859150 MONDO:0003847 False BDV syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33613,6 +33645,7 @@ MONDO:0859152 MONDO:0700092 False neurodevelopmental disorder with cerebellar at MONDO:0859154 MONDO:0017435 False Bartsocas-Papas syndrome 2 popliteal pterygium syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859155 MONDO:0019040 False chromosome 1p36 deletion syndrome, proximal chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859156 MONDO:0018234 False dysostosis multiplex, Ain-Naz type dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859157 MONDO:0003847 False visceral myopathy 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859157 MONDO:0016829 False visceral myopathy 2 familial visceral myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859158 MONDO:0003847 False ataxia, intention tremor, and hypotonia syndrome, childhood-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859159 MONDO:0003847 False deafness, cataract, impaired intellectual development, and polyneuropathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33652,7 +33685,7 @@ MONDO:0859196 MONDO:0003847 False Usmani-Riazuddin syndrome, autosomal recessive MONDO:0859198 MONDO:0003847 False short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859199 MONDO:0003847 False developmental delay with or without intellectual impairment or behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859200 MONDO:0003847 False cerebellar ataxia, brain abnormalities, and cardiac conduction defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859201 MONDO:0700092 False neurodevelopmental disorder with impaired language and ataxia and with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859201 MONDO:0100500 False neurodevelopmental disorder with impaired language and ataxia and with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859202 MONDO:0003847 False developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859203 MONDO:0018230 False rhizomelic dysplasia, Ain-Naz type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859204 MONDO:0003847 False fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33661,7 +33694,7 @@ MONDO:0859205 MONDO:0003847 False delayed puberty, self-limited hereditary disea MONDO:0859206 MONDO:0700092 False neurodevelopmental disorder with hearing loss and spasticity neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859207 MONDO:0700092 False neurodevelopmental disorder with hypotonia and gross motor and speech delay neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859210 MONDO:0019040 False chromosome 16q12 duplication syndrome chromosomal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859211 MONDO:0700092 False neurodevelopmental disorder with hyperkinetic movements and dyskinesia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859211 MONDO:0100500 False neurodevelopmental disorder with hyperkinetic movements and dyskinesia Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859212 MONDO:0700092 False neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859213 MONDO:0000119 False congenital heart defects, multiple types, 8, with or without heterotaxy congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859214 MONDO:0700092 False Marbach-Schaaf neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33711,7 +33744,7 @@ MONDO:0859266 MONDO:0700092 False neurodevelopmental disorder with severe motor MONDO:0859271 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 25 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859272 MONDO:0700092 False neurodevelopmental disorder with speech delay and variable ocular anomalies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859273 MONDO:0005154 False liver disease, severe congenital liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859274 MONDO:0700092 False neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859274 MONDO:0100500 False neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859275 MONDO:0700092 False neurodevelopmental disorder with spasticity, seizures, and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859276 MONDO:0003847 False primordial dwarfism-immunodeficiency-lipodystrophy syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859277 MONDO:0003847 False intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33720,21 +33753,21 @@ MONDO:0859281 MONDO:0003847 False intellectual developmental disorder with autis MONDO:0859282 MONDO:0700092 False neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859283 MONDO:0700092 False neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859285 MONDO:0700092 False neurodevelopmental disorder with microcephaly, short stature, and speech delay neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859286 MONDO:0700092 False neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859286 MONDO:0100500 False neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859287 MONDO:0700092 False neurodevelopmental disorder with microcephaly, hypotonia, and absent language neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859288 MONDO:0003847 False bone marrow failure and diabetes mellitus syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859289 MONDO:0005020 False intestinal dysmotility syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859290 MONDO:0017773 False familial apolipoprotein gene cluster deletion syndrome hypoalphalipoproteinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859292 MONDO:0003847 False developmental delay, behavioral abnormalities, and neuropsychiatric disorders hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859293 MONDO:0700092 False neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0859295 MONDO:0700092 False neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859295 MONDO:0100500 False neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859296 MONDO:0700092 False neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859297 MONDO:0700092 False neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859298 MONDO:0700092 False neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859301 MONDO:0700092 False neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859302 MONDO:0003847 False hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859303 MONDO:0003847 False intellectual developmental disorder with ocular anomalies and distinctive facial features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0859304 MONDO:0005559 False neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0859304 MONDO:0024237 False neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859305 MONDO:0700092 False neurodevelopmental disorder with eye movement abnormalities and ataxia neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859306 MONDO:0003847 False developmental delay with variable intellectual disability and dysmorphic facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0859307 MONDO:0005516 False cleidocranial dysplasia 2 osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33871,6 +33904,7 @@ MONDO:0958001 MONDO:0003847 False Alfadhel syndrome hereditary disease UNSUPPORT MONDO:0958005 MONDO:0002254 False Hoxha-Aliu syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958005 MONDO:0003847 False Hoxha-Aliu syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958006 MONDO:0100510 False spondyloepimetaphyseal dysplasia, Guo-Campeau type spondyloepimetaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958013 MONDO:0100337 False immunodeficiency, common variable, 15 SEC61A1 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958034 MONDO:0020088 False lipodystrophy, familial partial, type 9 familial partial lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0958037 MONDO:0000158 False developmental dysplasia of the hip 3 developmental dysplasia of the hip UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0958071 MONDO:0100500 False Hao-Fountain syndrome due to USP7 mutation Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33896,6 +33930,7 @@ MONDO:0958205 MONDO:0002254 False Yuksel-Vogel-Bauer syndrome syndromic disease MONDO:0958224 MONDO:0100198 False encephalopathy, porphyria-related Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958226 MONDO:0019046 False leukoencephalopathy, porphyria-related leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0958227 MONDO:0002254 False polydactyly-macrocephaly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958227 MONDO:0003847 False polydactyly-macrocephaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958229 MONDO:0005385 False bleeding disorder, vascular-type vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958231 MONDO:0700092 False neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958237 MONDO:0003847 False isolated hyperferritinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33916,6 +33951,7 @@ MONDO:0958275 MONDO:0002320 False segmental spinal dysgenesis congenital nervous MONDO:0958275 MONDO:0002545 False segmental spinal dysgenesis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958278 MONDO:0700092 False neurodevelopmental disorder with hypotonia and characteristic brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958279 MONDO:0002254 False megalencephaly-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958279 MONDO:0003847 False megalencephaly-polydactyly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958323 MONDO:0100500 False neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958326 MONDO:0020242 False macular dystrophy with or without cone dysfunction hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958328 MONDO:0019342 False Seckel syndrome 11 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -33930,7 +33966,6 @@ MONDO:0968947 MONDO:0100500 False neurodevelopmental disorder plus optic atrophy MONDO:0968949 MONDO:0019272 False palmoplantar keratoderma, epidermolytic hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968951 MONDO:0009071 False hypouricemia, renal hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968976 MONDO:0700092 False neurodevelopmental disorder with progressive movement abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0968977 MONDO:0008947 False basal ganglia calcification, idiopathic, 9, autosomal recessive bilateral striopallidodentate calcinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0968978 MONDO:0002254 False aplasia cutis-enamel dysplasia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968979 MONDO:0700092 False neurodevelopmental disorder with hypotonia and seizures neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968982 MONDO:0003847 False autoinflammation with episodic fever and immune dysregulation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING