v2024-11-05

New terms: 71

Term
generalized epilepsy (MONDO:0100574)
abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit (MONDO:1012860)
centronuclear myopathy, DNM2-related, dog (MONDO:1012922)
ametapodia-1, chicken (MONDO:1012583)
arthrogryposis multiplex congenita, AGRN-related, cattle (MONDO:1012800)
Alzheimer disease, APP-related, dog (MONDO:1012949)
arachnomelia syndrome, non-human animal (MONDO:1012955)
cataract, NID1-related, cattle (MONDO:1012755)
arachnomelia syndrome, MOCS1-related, cattle (MONDO:1012706)
cataract, CPAMD8-related, cattle (MONDO:1012790)
cancer, TP53-related, golden hamster (MONDO:1012767)
arthrogryposis multiplex congenita, CHRNB1-related, cattle (MONDO:1012772)
amyotrophic lateral sclerosis, SOD1-related, pig (MONDO:1012913)
cerebellar ataxia, SELENOP-related, dog (MONDO:1012878)
Alzheimer disease, PSEN1-related, crab-eating macaque (MONDO:1012951)
centronuclear myopathy 2, BIN1-related, dog (MONDO:1012721)
ataxia, HACE1-related, dog (MONDO:1012918)
hereditary generalized epilepsy (MONDO:0100576)
amyotrophic lateral sclerosis, TARDBP-related, crab-eating macaque (MONDO:1012914)
spinocerebellar ataxia, KCNJ10-related, dog (MONDO:1012783)
hereditary ataxia, non-human animal (MONDO:1012959)
amyotrophic lateral sclerosis, TARDBP-related, Rhesus monkey (MONDO:1012915)
canine hereditary ataxia, RAB24-related, dog (MONDO:1012747)
amyotrophic lateral sclerosis, TARDBP-related, pig (MONDO:1012916)
cataract, non-human animal (MONDO:1012962)
ametapodia, chicken (MONDO:1012947)
progressive early-onset cerebellar ataxia, SEL1L-related, dog (MONDO:1012731)
cancer, RUNX-related, pig (MONDO:1012775)
abdominal hernia, TWIST1-related, cattle (MONDO:1012920)
cataract, ADAMTSL4-related, cattle (MONDO:1012923)
Alzheimer disease, APP-related, Rhesus monkey (MONDO:1012928)
chondrodysplasia, COL2A1-related, pig (MONDO:1012751)
benign familial juvenile epilepsy, LGI2-related, dog (MONDO:1012713)
Alzheimer disease, APP-related, white-tufted-ear marmoset (MONDO:1012926)
cerebellar ataxia, ATP1B2-related, dog (MONDO:1012789)
ametapodia-2, chicken (MONDO:1012719)
cataract, MIP-related, giant panda (MONDO:1012851)
cerebellar abiotrophy, VMP1-related, dog (MONDO:1012945)
spinocerebellar ataxia, ATXN3-related, white-tufted-ear marmoset (MONDO:1012910)
Alzheimer disease, APP-related, crab-eating macaque (MONDO:1012927)
amyotrophic lateral sclerosis, non-human animal (MONDO:1012954)
centronuclear myopathy, HACD1-related, dog (MONDO:1012674)
spinocerebellar ataxia, ITPR1-related, dog (MONDO:1012785)
atactic disorder, non-human animal (MONDO:1012958)
genetic generalized epilepsy (MONDO:0100575)
cerebellar degeneration-myositis complex, SLC25A12-related, dog (MONDO:1012843)
arthrogryposis multiplex congenita, KIF21A-related, pig (MONDO:1012839)
cerebellar ataxia, non-human animal (MONDO:1012956)
Alzheimer disease, PSEN1-related, pig (MONDO:1012917)
hereditary cerebellar ataxia, non-human animal (MONDO:1012960)
neurodegenerative disease, non-human animal (MONDO:1012953)
Alzheimer disease, SORL1-related, pig (MONDO:1012938)
Alzheimer disease, APP-related, pig (MONDO:1012929)
spinocerebellar ataxia, SPTBN2-related, dog (MONDO:1012784)
60,XX/90,XXY disorder of sexual development, cattle (MONDO:1012852)
cerebellar cortical degeneration, SNX14-related, dog (MONDO:1012774)
cancer, TP53-related, pig (MONDO:1012769)
spinocerebellar ataxia, SCN8A-related, dog (MONDO:1012805)
combined generalized and focal epilepsy (MONDO:0100573)
hereditary cerebellar ataxia, KCNIP4-related, dog (MONDO:1012827)
cataract, FYCO1-related, dog (MONDO:1012924)
arachnomelia syndrome, SUOX-related, cattle (MONDO:1012584)
amelogenesis imperfecta, non-human animal (MONDO:1012952)
cerebellar hypoplasia, VLDLR-associated, dog (MONDO:1012757)
centronuclear myopathy, non-human animal (MONDO:1012963)
amelogenesis imperfecta, FAM83H-related, rabbit (MONDO:1012944)
congenital bovine chondrodysplasia, COL2A1-related, cattle (MONDO:1012752)
cerebellar ataxia, dog (MONDO:1012957)
Alzheimer disease, PSEN1-related, white-tufted-ear marmoset (MONDO:1012950)
cancer, TP53-related, crab-eating macaque (MONDO:1012768)
spinocerebellar ataxia, SLC12A6-related, dog (MONDO:1012836)

Terms renamed: 13

ID	Old Label	New Label
MONDO:0007558	benign occipital epilepsy	self-limited childhood occipital epilepsy
MONDO:0020307	benign childhood occipital epilepsy, Panayiotopoulos type	self-limited epilepsy with autonomic seizures
MONDO:1011424	Complement component 2 deficiency, non-human animal	complement component 2 deficiency, non-human animal
MONDO:0020631	epileptic encephalopathy, infantile or early childhood, 2	developmental and epileptic encephalopathy 92
MONDO:0020630	epileptic encephalopathy, infantile or early childhood, 1	developmental and epileptic encephalopathy 91
MONDO:0010595	Sertoli cell-only syndrome	obsolete Sertoli cell-only syndrome
MONDO:0005579	epilepsy, idiopathic generalized	idiopathic generalized epilepsy
MONDO:1011423	Complement component 6 deficiency, non-human animal	complement component 6 deficiency, non-human animal
MONDO:0020632	epileptic encephalopathy, infantile or early childhood, 3	developmental and epileptic encephalopathy 93
MONDO:0015424	lethal chondrodysplasia, Moerman type	obsolete lethal chondrodysplasia, Moerman type
MONDO:0007039	neurofibromatosis type 2	NF2-related schwannomatosis
MONDO:0015346	Jeavons syndrome	epilepsy with eyelid myoclonia
MONDO:0020308	benign childhood occipital epilepsy, Gastaut type	childhood occipital visual epilepsy

Text definitions added: 73

Term	New Text Definition
centronuclear myopathy 2, BIN1-related, dog (MONDO:1012721)	Any centronuclear myopathy that occurs in dogs due to a mutation in the BIN1 gene.
cancer, RUNX-related, pig (MONDO:1012775)	Any cancer that occurs in pigs due to a mutation in the RUNX gene created by genetic engineering or gene editing.
chondrodysplasia, COL2A1-related, pig (MONDO:1012751)	A severe skeletal dysplasia characterized by shortened long bones, abnormal vertebrae, depressed nasal bridge, and cleft palate that occurs in pigs due to a mutation in the COL2A1 gene created by genetic engineering or gene editing.
arachnomelia syndrome, SUOX-related, cattle (MONDO:1012584)	Any arachnomelia syndrome that occurs in cattle due to a mutation in the SUOX gene.
arachnomelia syndrome, MOCS1-related, cattle (MONDO:1012706)	Any arachnomelia syndrome that occurs in cattle due to a mutation in the MOCS1 gene.
cerebellar ataxia, non-human animal (MONDO:1012956)	Cerebellar ataxia that occurs in non-human animals.
abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit (MONDO:1012860)	Abnormal locomotion defined by the loss of typical jumping and blindness at birth due to retinal dysplasia and early-onset cataracts that occurs in rabbits due to a mutation in the RORB gene.
Alzheimer disease, APP-related, pig (MONDO:1012929)	Alzheimer disease that occurs in pigs due to a mutation in the APP gene created by genetic engineering or gene editing.
cerebellar hypoplasia, VLDLR-associated, dog (MONDO:1012757)	Any cerebellar ataxia that occurs in dogs due to a mutation in the VLDLR gene.
cerebellar ataxia, dog (MONDO:1012957)	Cerebellar ataxia that occurs in dogs.
cerebellar ataxia, ATP1B2-related, dog (MONDO:1012789)	Any cerebellar ataxia that occurs in dogs due to a mutation in the ATP1B2 gene.
arachnomelia syndrome, non-human animal (MONDO:1012955)	A hereditary malformation of the skeletal system in non-human animals.
ametapodia-2, chicken (MONDO:1012719)	Any ametopodia that occurs in chickens with recessive inheritance.
centronuclear myopathy, HACD1-related, dog (MONDO:1012674)	Any centronuclear myopathy that occurs in dogs due to a mutation in the HACD1 gene.
spinocerebellar ataxia, KCNJ10-related, dog (MONDO:1012783)	Any spinocerebellar ataxia that occurs in dogs due to a mutation in the KCNJ10 gene.
combined generalized and focal epilepsy (MONDO:0100573)	Any epilepsy where patients have both generalized and focal seizure types, with interictal and/or ictal EEG findings that accompany both seizure types. Patients with Dravet syndrome and Lennox-Gastaut syndrome may have combined focal and generalized epilepsy.
cerebellar ataxia, SELENOP-related, dog (MONDO:1012878)	Any cerebellar ataxia that occurs in dogs due to a mutation in the SELENOP gene.
cerebellar abiotrophy, VMP1-related, dog (MONDO:1012945)	Any cerebellar abiotrophy that occurs in dogs due to a mutation in the VMP1 gene.
amyotrophic lateral sclerosis, TARDBP-related, crab-eating macaque (MONDO:1012914)	Any amyotrophic lateral sclerosis that occurs in crab-eating macaque due to a mutation in the TARDBP gene created by genetic engineering or gene editing.
progressive early-onset cerebellar ataxia, SEL1L-related, dog (MONDO:1012731)	Any cerebellar ataxia that occurs in dogs due to a mutation in the SEL1L gene.
cataract, MIP-related, giant panda (MONDO:1012851)	Any cataract that occurs in giant pandas due to a mutation in the MIP gene.
arthrogryposis multiplex congenita, KIF21A-related, pig (MONDO:1012839)	Any arthrogryposis multiplex congenita that occurs in pigs due to a mutation in the KIF21A gene.
Alzheimer disease, PSEN1-related...

v2024-10-01

New terms: 164

Term
PDE6C-related retinopathy (MONDO:1040028)
polycystic kidney disease, PKD2-related, pig (MONDO:1011106)
neuronal ceroid lipofuscinosis, CLN8, dog (MONDO:1010894)
neuronal ceroid lipofuscinosis, Japanese macaque (MONDO:1010899)
inherited rickets, DMP1-related, sheep (MONDO:1011197)
Parkinson disease 26, autosomal dominant, susceptibility to (MONDO:0975748)
GM2 gangliosidosis, springbok (MONDO:1010882)
HGSNAT-related retinopathy (MONDO:1040040)
glycogen storage disease, AGL-related, dog (MONDO:1010717)
GM2 gangliosidosis, HEXB-related dog (MONDO:1010883)
Niemann-Pick disease, NPC1-related, domestic cat (MONDO:1010874)
acquired porphyria (MONDO:1030015)
spastic triplegia (MONDO:0700279)
leukocyte adhesion deficiency, ITGB2-related, dog (MONDO:1010727)
neuronal ceroid lipofuscinosis, CLN5-related, dog (MONDO:1010887)
neuronal ceroid lipofuscinosis, CLN6-related, sheep (MONDO:1010881)
tyrosinemia type 1, FAH-related, pig (MONDO:1010720)
neuronal ceroid lipofuscinosis, CLN6-related, domestic cat (MONDO:1010880)
primary hyperoxaluria, AGXT-related, dog (MONDO:1011100)
limb-girdle muscular dystrophy, SGCD-related, dog (MONDO:1010934)
vitamin D dependent rickets, CYP27B1-related, dog (MONDO:1011183)
persistent atrial fibrillation (MONDO:1030009)
ataxic diplegic cerebral palsy (MONDO:0700283)
BBS2-related ciliopathy (MONDO:1040048)
BBS7-related ciliopathy (MONDO:1040042)
thyroid gland mucinous carcinoma (MONDO:0971036)
hypomyopathic dermatomyositis (MONDO:1010089)
achromatopsia, CNGB3-related, cattle (MONDO:1011257)
thyroid gland mixed medullary and follicular cell-derived carcinoma (MONDO:0971035)
leukocyte adhesion deficiency, FERMT3-related, dog (MONDO:1010736)
FZD4-related exudative vitreoretinopathy (MONDO:1040041)
sphingomyelin lipidosis, raccoon (MONDO:1010896)
neuronal ceroid lipofuscinosis, MFSD8-related, dog (MONDO:1010900)
anti-NXP2 dermatomyositis (MONDO:1010084)
primary hyperoxaluria, GRHPR-related, domestic cat (MONDO:1011062)
anti-MDA5 dermatomyositis (MONDO:1010064)
vitamin D dependent rickets type 1A, CYP27B1-related, domestic cat (MONDO:1011184)
glycogen storage disease, PYGM-related, cattle (MONDO:1010703)
LRIT3-related retinopathy (MONDO:1040035)
PRPH2-related retinopathy (MONDO:1040055)
hypophosphatemic rickets, DMP1-related, rabbit (MONDO:1011198)
neuronal ceroid lipofuscinosis, CLN3-related, pig (MONDO:1010903)
rod-cone dysplasia, PCARE-related, dog (MONDO:1011265)
pediatric high-grade glioma (MONDO:1010030)
IMPG1-related recessive retinopathy (MONDO:1040037)
neuronal ceroid lipofuscinosis, PPT1-related, dog (MONDO:1010890)
GM1 gangliosidosis, GLB1-related, domestic cat (MONDO:1010846)
thyroid gland cribriform morular carcinoma (MONDO:0971034)
leukocyte adhesion deficiency, ITGB2-related, domestic cat (MONDO:1010728)
neuronal ceroid lipofuscinosis, PPT1-related, sheep (MONDO:1010891)
auto-brewery syndrome (MONDO:0971031)
spermatogenic failure 95 (MONDO:0975747)
Niemann-Pick disease, SMPD1-related, domestic cat (MONDO:1010897)
rod-cone dysplasia, PDE6A-related, dog (MONDO:1011254)
achromatopsia, CNGB3-related, dog (MONDO:1011256)
spastic paraplegia 92, autosomal recessive (MONDO:0975746)
reactive angioendotheliomatosis (MONDO:0975756)
mucopolysaccharidosis, GUSB-related, dog (MONDO:1010871)
glycogen storage disease II, Japanese quail (MONDO:1010849)
IMPDH1-related retinopathy (MONDO:1040051)
pseudo vitamin D-deficiency rickets, CYP27B1-related, pig (MONDO:1011185)
hypertensive urgency (MONDO:1030007)
POLR3-related leukodystrophy (MONDO:0700282)
cone-rod dystrophy, GUCY2D-related, pig (MONDO:1011272)
pseudomyogenic hemangioendothelioma (MONDO:0975754)
mucopolysaccharidosis, ARSB-related, domestic cat (MONDO:1010870)
MKKS-related ciliopathy (MONDO:1040050)
glycogen storage disease, GAA-related, cattle (MONDO:1010852)
post-treatment Lyme disease syndrome (MONDO:0700280)
oculocutaneous albinism, SLC45A2-related, dog (MONDO:1011039)
LZTFL1-related ciliopathy (MONDO:1040046)
immunodeficiency 125 (MONDO:0975749)
glycogen storage disease, PFKM-related, dog (MONDO:1010699)
glycogen storage disease II, sheep (MONDO:1010853)
focal nonepidermolytic palmoplantar keratoderma, KRT16-related, dog (MONDO:1010790)
TTLL5-related retinopathy (MONDO:1040038)
achromatopsia, PDE6C-related, Rhesus monkey (MONDO:1011281)
oculocutaneous albinism, SLC45A2-related, western gorilla (MONDO:1011038)
otofacial neurodevelopmental syndrome (MONDO:0975705)
anti-TIF1 dermatomyositis (MONDO:1010087)
glycogen storage disease, GAA-related, dog (MONDO:1010850)
leukocyte adhesion deficiency, ITGB2-related, cattle (MONDO:1010729)
Gaucher disease, GBA1-related, sheep (MONDO:1010904)
GM2 gangliosidosis, HEXB-related, domestic cat (MONDO:1010884)
neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 (MONDO:0975745)
neuronal ceroid lipofuscinosis, CTSD-related, sheep (MONDO:1010893)
neuronal ceroid lipofuscinosis, TPP1-related, dog (MONDO:1010885)
BBS12-related ciliopathy (MONDO:1040045)
progressive retinal atrophy, BBS4-related, dog (MONDO:1011277)
clinically amyopathic dermatomyositis (MONDO:1010096)
anti-Mi2 dermatomyositis (MONDO:1010065)
neuronal ceroid lipofuscinosis, CTSD-related, dog (MONDO:1010892)
oculocutaneous albinism, SLC45A2-related, cattle (MONDO:1011040)
glaucoma, LTBP2-related, domestic cat (MONDO:1011275)
DHDDS-CDG (MONDO:1040054)
GM2 gangliosidosis, GM2A-related, domestic cat (MONDO:1010878)
mucopolysaccharidosis, SGSH-related, dog (MONDO:1010876)
GM1 gangliosidosis GLB1-related, sheep (MONDO:1010848)
BBS1-related ciliopathy (MONDO:1040043)
microvenular haemangioma (MONDO:0975758)
paroxysmal atrial fibrillation (MONDO:1030011)
POLR3B-related disorder (MONDO:0700277)
neuronal ceroid lipofuscinosis, MFSD8-related, domestic cat (MONDO:1010901)
PROM1-related dominant retinopathy (MONDO:1040053)
PDE6G-related retinopathy (MONDO:1040034)
cone-rod dystrophy, ADAM9-related, dog (MONDO:1011264)
POLR3A-related disorder (MONDO:0700276)
papillary hemangioma (MONDO:0975753)
immunodeficiency 126, susceptibility to (MONDO:0975761)
Niemann-Pick disease, NPC2-related, domestic cat (MONDO:1010902)
oculocutaneous albinism, SLC45A2-related, Japanese medaka (MONDO:1011037)
intrathyroid thymic carcinoma (MONDO:0971033)
PROM1-related retinopathy (MONDO:1040056)
precerebral artery stenosis (MONDO:1030010)
cone-rod dystrophy, IQCB1-related, dog (MONDO:1011268)
MYH10-related neurodevelopmental disorder with congenital anomalies (MONDO:0700281)
retinitis pigmentosa, RP1-related, cattle (MONDO:1011276)
neurofibromatosis, NF1-related, pig (MONDO:1010959)
Niemann-Pick disease, type C, dog (MONDO:1010873)
bladder fermentation syndrome (MONDO:0971032)
mucopolysaccharidosis, ARSB-related, dog (MONDO:1010869)
BBS4-related ciliopathy (MONDO:1040044)
glycogen storage disease, GAA-related, domestic cat (MONDO:1010851)
primary hyperoxaluria, AGXT-related, sheep (MONDO:1011101)
cone-rod dystrophy, PDE6B-related dog (MONDO:1011266)
eccrine angiomatous hamartoma (MONDO:0975755)
mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal (MONDO:1012581)
syndromic retinal atrophy, BBS2-related, dog (MONDO:1011285)
achromatopsia, CNGA3-related, dog (MONDO:1011260)
syndromic retinal atrophy, BBS7-related, Rhesus monkey (MONDO:1011283)
achromatopsia, non-human animal (MONDO:1012578)
glycogen storage disease, G6PC1-related, dog (MONDO:1010698)
BBS5-related ciliopathy (MONDO:1040047)
sphingomyelinase deficiency, cattle (MONDO:1010898)
Stargardt disease, ABCA4-related, dog (MONDO:1011282)
congenital muscular dystonia, ATP2A1-related, cattle (MONDO:1010926)
TTC8-related ciliopathy (MONDO:1040049)
POLR1C-related disorder (MONDO:0700278)
Niemann-Pick disease, NPC1-related, cattle (MONDO:1010875)
acquired elastotic haemangioma (MONDO:0975759)
cone-rod dystrophy, IQCB1-related, black-footed cat (MONDO:1011267)
cone-rod dystrophy, non-human animal (MONDO:1012582)
anti-SAE dermatomyositis (MONDO:1010088)
achromatopsia, CNGA3-related, sheep (MONDO:1011261)
GM1 gangliosidosis, cattle (MONDO:1010847)
glycogen storage disease, PYGM-related, sheep (MONDO:1010704)
mucopolysaccharidosis, GUSB-related, domestic cat (MONDO:1010872)
tyrosinemia type 1, FAH-related, rabbit (MONDO:1010721)
mucopolysaccharidosis, GNS-related, goat (MONDO:1010868)
polycystic kidney disease, PKD2-related, domestic cat (MONDO:1011105)
neuronal ceroid lipofuscinosis, CLN5-related, cattle (MONDO:1010888)
IMPG1-related dominant retinopathy (MONDO:1040036)
littoral cell hemangioma of the spleen (MONDO:0975752)
neuronal ceroid lipofuscinosis, CLN6-related, dog (MONDO:1010879)
brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation (MONDO:0975751)
PROM1-related recessive retinopathy (MONDO:1040052)
leukocyte adhesion deficiency, non-human animal (MONDO:1012580)
neuronal ceroid lipofuscinosis, TPP1-related, pig (MONDO:1010886)
neuronal ceroid lipofuscinosis, CLN5-related, sheep (MONDO:1010889)
anastomosing haemangioma (MONDO:0975757)
mitral valve insufficiency (MONDO:1030008)
Mycoplasmoides infection (MONDO:1030003)
GM1 gangliosi...

v2024-09-03

New terms: 120

Term
Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, dog (MONDO:1010746)
multiple evanescent white dot syndrome (MONDO:0971128)
autosomal dominant dopa-responsive dystonia (MONDO:0971063)
diffuse unilateral subacute neuroretinitis (MONDO:0971127)
hereditary sensory and autonomic neuropathy, SCN9A-related, dog (MONDO:1011032)
Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, sheep (MONDO:1010749)
early onset cataract HSF4-related, dog (MONDO:1011269)
X-linked severe combined immunodeficiency disease, IL2RG-related, pig (MONDO:1010732)
Ehlers-Danlos syndrome, kyphoscoliotic type, PLOD1-related, horse (MONDO:1010788)
chondrodysplasia FGFR3-related, cattle (MONDO:1011199)
colorectal cancer, MLH1-related, Rhesus monkey (MONDO:1010957)
methemoglobinemia, CYB5R3-related, dog (MONDO:1010670)
isolated retinal racemose hemangioma (MONDO:0971123)
progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN (MONDO:0971138)
pilocytic astrocytoma with histological features of anaplasia (MONDO:0971118)
bilateral diffuse uveal melanocytic proliferation disease (MONDO:0971131)
PRC-2 complex-related overgrowth spectrum (MONDO:0971047)
isolated segmental infantile hemangioma (MONDO:0971133)
Ehlers-Danlos syndrome, classic type, COL5A2-related, cattle (MONDO:1010798)
congenital hypothyroidism, DUOX2-related, pig (MONDO:1010617)
hypertrophic cardiomyopathy, SGCD-related, golden hamster (MONDO:1010511)
episodic memory defect leukoencephalopathy (MONDO:0971077)
muscular dystrophy, limb-girdle, autosomal recessive 29 (MONDO:0971171)
Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, domestic cat (MONDO:1010747)
spinocerebellar ataxia, CAPN1-related, dog (MONDO:1011021)
bleeding disorder P2RY12-related, dog (MONDO:1010667)
hypermobility spectrum disorder (MONDO:1040027)
megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency (MONDO:0971066)
oculocutaneous albinism, OCA2-related, Mexican tetra (MONDO:1011041)
Phelan-McDermid syndrome due to 22q13.3 deletion (MONDO:0971068)
neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (MONDO:0971172)
acute megakaryoblastic leukemia in adult (MONDO:0971091)
X-linked severe combined immunodeficiency disease, IL2RG-related, golden hamster (MONDO:1010730)
X-linked hypohidrotic ectodermal dysplasia, EDA-related, cattle (MONDO:1010755)
nemaline myopathy, NEB-related, dog (MONDO:1010935)
osteogenesis imperfecta SERPINH1-related, dog (MONDO:1011196)
well-differentiated papillary mesothelial tumour of the pleura (MONDO:0971140)
borderline vascular tumor (MONDO:0971116)
thrombopathia, RASGRP2-related, cattle (MONDO:1010674)
intraoral basal cell carcinoma (MONDO:0971111)
congenital increased muscular tonus, MYBPC1-related, cattle (MONDO:1010933)
torpedo maculopathy (MONDO:0971125)
peritoneal mesothelioma in situ (MONDO:0971145)
X-linked severe combined immunodeficiency disease, IL2RG-related, dog (MONDO:1010731)
thrombopathia, RASGRP2-related, dog (MONDO:1010673)
prostate cancer, hereditary, X-linked 3 (MONDO:0971170)
congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related, dog (MONDO:1010616)
severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome (MONDO:0971137)
6q25.1 microdeletion syndrome (MONDO:0971095)
Ehlers-Danlos syndrome, classic type, COL5A1-related, dog (MONDO:1010793)
developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation (MONDO:0971062)
hypogonadotropic hypogonadism, KISS1-related, pig (MONDO:1011129)
multiple mitochondrial dysfunctions syndrome 9b (MONDO:0971174)
common arterial trunk with aortic dominance (MONDO:0971107)
oculocutaneous albinism, OCA2-related, dog (MONDO:1011042)
immunodeficiency IL17RA-related, cattle (MONDO:1010742)
pleural mesothelioma in situ (MONDO:0971143)
ocular surface squamous neoplasia (MONDO:0971056)
cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation (MONDO:0971094)
immunodeficiency 122 (MONDO:0971151)
neurocristopathy, CHD7-related, cattle (MONDO:1012577)
nephropathy, COL4A4-related, dog (MONDO:1011107)
Ehlers-Danlos syndrome, classic type, COL5A2-related, dog (MONDO:1010797)
sycosis barbae (MONDO:1050000)
Happle-Tinschert syndrome (MONDO:1030006)
perifoveal exudative vascular anomalous complex (MONDO:0971124)
common arterial trunk with pulmonary dominance and interrupted aortic arch (MONDO:0971108)
choroidal osteoma (MONDO:0971130)
methemoglobinemia, CYB5R3-related, domestic cat (MONDO:1010671)
sensory neuropathy, RETREG1-related, dog (MONDO:1011027)
progressive retinal atrophy, TTC8-related, dog (MONDO:1011273)
Grisel syndrome (MONDO:0971080)
X-linked disease, non-human animal (MONDO:1012575)
severe combined immunodeficiency disease, RAG1-related, dog (MONDO:1010738)
coat color dilution, MLPH-related, dog (MONDO:1011033)
ichthyosis TGM1-related, dog (MONDO:1010756)
autoinflammation with arthritis and vasculitis (MONDO:0971173)
muscular hypertrophy, MSTN-related, cattle (MONDO:1010914)
Phelan-McDermid syndrome due to SHANK3 mutation (MONDO:0971069)
benign vascular tumor (MONDO:0971115)
X-linked hypohidrotic ectodermal dysplasia, EDA-related, dog (MONDO:1010754)
prostate cancer, hereditary (MONDO:0700275)
neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity (MONDO:0971150)
isolated angioid streaks (MONDO:0971126)
polycystic kidney disease 8 (MONDO:0971178)
single isolated optic neuritis (MONDO:0971049)
stellate multiform amelanotic choroidopathy (MONDO:0971129)
verruga peruana (MONDO:0971058)
primary ciliary dyskinesia CCDC39-related, dog (MONDO:1011137)
hyperphagia leading to hepatic steatosis, pig (MONDO:1010406)
hypertrophic cardiomyopathy, SGCD-related, pig (MONDO:1010512)
arterial tortuosity-bone fragility syndrome (MONDO:0971179)
orofacial clefting-cardiac anomalies-facial dysmorphism syndrome (MONDO:0971064)
Nicolau syndrome (MONDO:0971103)
localized pleural mesothelioma (MONDO:0971141)
maple syrup urine disease, BCKDHA-related, cattle (MONDO:1010700)
mosaic SMO syndrome (MONDO:1030005)
retinopathy, RDH5-related, domestic cat (MONDO:1011284)
hypohidrotic ectodermal dysplasia, non-human animal (MONDO:1012576)
ichthyosis SLC27A4-related, dog (MONDO:1010786)
dilated cardiomyopathy PLN-related, dog (MONDO:1010510)
Ehlers-Danlos syndrome, classic type, COL5A1-related, domestic cat (MONDO:1010794)
MGP-related spondyloepiphyseal dysplasia (MONDO:0971093)
hearing loss, autosomal recessive 125 (MONDO:0971152)
soft and hard cleft palate (MONDO:0971092)
diffused pleural mesothelioma (MONDO:0971142)
immunodeficiency 123 with HPV-related verrucosis (MONDO:0971177)
ichthyosis NIPAL4-related, dog (MONDO:1010787)
ovarian dysgenesis 11 (MONDO:0971176)
Ehlers-Danlos syndrome, classic-like, TNXB-related, dog (MONDO:1010795)
proteoglycan-related bone disorder (MONDO:0971119)
Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, cattle (MONDO:1010748)
neonatal renal venous thrombosis (MONDO:0971105)
relapsing isolated optic neuritis (MONDO:0971050)
chondrodysplasia FGFR3-related, sheep (MONDO:1011200)
spastic paraplegia 30b, autosomal recessive (MONDO:0971149)
severe combined immunodeficiency disease, pig (MONDO:1010739)
cardiomyopathy, dilated, 2K (MONDO:0971175)
oculocutaneous albinism, non-human animal (MONDO:1012579)
hepatic cutaneous porphyria (MONDO:0971154)

Terms renamed: 13

ID	Old Label	New Label
MONDO:0018603	interstitial lung disease due to SP-C deficiency	SFTPC- related interstitial lung disease
MONDO:0035547	predisposition to severe viral infection due to IRF7 deficiency	obsolete predisposition to severe viral infection due to IRF7 deficiency
MONDO:0004587	hereditary night blindness	obsolete hereditary night blindness
MONDO:0957825	deafness, autosomal recessive 121	hearing loss, autosomal recessive 121
MONDO:0017297	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids {xref="Orphanet:284448"}	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
MONDO:0022900	athyreotic congenital hypothyroidism	obsolete athyreotic congenital hypothyroidism
MONDO:0020716	familial thyroid dyshormonogenesis 1	thyroid dyshormonogenesis 1
MONDO:0009917	autosomal recessive pseudohypoaldosteronism type 1	pseudohypoaldosteronism, type IB1, autosomal recessive
MONDO:0000424	inborn vitamin B12 deficiency	obsolete inborn vitamin B12 deficiency
MONDO:0015068	neuroendocrine tumor of rectum, well differentiated, low or intermediate grade	rectal neuroendocrine tumor
MONDO:0957319	pseudohypoaldosteronism, type I	obsolete pseudohypoaldosteronism, type I
MONDO:0011292	dermatitis, atopic	obsolete dermatitis, atopic
MONDO:0018774	erythrokeratodermia-cardiomyopathy syndrome	obsolete erythrokeratodermia-cardiomyopathy syndrome

Text definitions added: 67

Term	New Text Definition
patent ductus venosus (MONDO:0011089)	Patent ductus venosus (PDV) ...

v2024-08-06

Content changes

New terms added: 600

Many of these terms are non-human animal diseases

Term
leukoencephalomyelopathy, dog (MONDO:1012450)
spinal dysraphism, dog (MONDO:1012259)
trapped neutrophil syndrome, dog (MONDO:1012383)
idiopathic hepatic fibrosis, dog (MONDO:1012102)
lower motor neuron disease, sheep (MONDO:1012170)
IRF6-related condition (MONDO:1040010)
hypoadrenocorticism, goat (MONDO:1012112)
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dog (MONDO:1012432)
autosomal dwarfism, chicken (MONDO:1012065)
congenital myopathy with fiber-type disproportion, dog (MONDO:1012454)
primary hypothyroidism, domestic cat (MONDO:1012122)
platelet function defect, cattle (MONDO:1012216)
MTOR-related overgrowth spectrum (MONDO:0100572)
hydrallantois, water buffalo (MONDO:1012501)
nephropathy, dog (MONDO:1012186)
vertebral artery dissection (MONDO:1040011)
malignant hyperthermia, turkey (MONDO:1012144)
comedo syndrome, dog (MONDO:1012345)
acral mutilation syndrome, dog (MONDO:1012407)
photoreceptor dysplasia, dog (MONDO:1012362)
megaesophagus, horse (MONDO:1012156)
megaesophagus, domestic ferret (MONDO:1012154)
inborn error of hepatic metabolism, dog (MONDO:1012136)
polyarthritis, domestic cat (MONDO:1012218)
ocular melanosis, dog (MONDO:1012455)
rod-cone dysplasia, domestic cat (MONDO:1012247)
pyometra, dog (MONDO:1012542)
cerebellar cortical atrophy, cattle (MONDO:1012047)
complement component 4 deficiency, domestic guinea pig (MONDO:1012428)
laminitis, horse (MONDO:1012330)
renal cysts, pig (MONDO:1012342)
osteochondromatosis, pig (MONDO:1012563)
ACTH-independent adrenal Cushing syndrome, dog (MONDO:1012488)
malignant hyperthermia, dog (MONDO:1012145)
progressive cerebellar abiotrophy, pig (MONDO:1012224)
pulmonary adenomatosis, dog (MONDO:1012231)
cardiomyopathy and woolly haircoat syndrome, cattle (MONDO:1012035)
internal hydrocephalus, cattle (MONDO:1012106)
renal nephropathy, dog (MONDO:1012238)
bleeding disorder, dog (MONDO:1012027)
occipital dysplasia, dog (MONDO:1012194)
congenital mast cell tumor, cattle (MONDO:1012568)
congenital neuromuscular disease, sheep (MONDO:1012189)
calvarial hyperostotic syndrome, dog (MONDO:1012532)
laminitis, cattle (MONDO:1012331)
immunoglobulin A deficiency, dog (MONDO:1012130)
myoclonus epilepsy of Lafora, dog (MONDO:1012178)
atopy, domestic cat (MONDO:1012018)
sebaceous gland dysplasia, domestic cat (MONDO:1012438)
perosomus elumbis, dog (MONDO:1012207)
upper airway syndrome, dog (MONDO:1012478)
cancer, dog (MONDO:1012570)
cytochrome B-related exercise intolerance, sheep (MONDO:1012546)
idiopathic congenital chondrodystrophy, cattle (MONDO:1012465)
linear IgA disease, dog (MONDO:1012368)
vitamin D-deficiency rickets, non-type I, non-type II, domestic cat (MONDO:1012423)
bleeding disorder, domestic cat (MONDO:1012028)
EN1-related dorsoventral syndrome (MONDO:1040032)
retained placenta, cattle (MONDO:1012553)
congenital lethal spasms, cattle (MONDO:1012251)
tetragametic chimerism, water buffalo (MONDO:1012082)
alloimmune hemolytic anemia of the newborn, domestic cat (MONDO:1012006)
mitochondrial fission encephalopathy, dog (MONDO:1012561)
progressive ataxia, cattle (MONDO:1012289)
persistent right aortic arch with subclavian artery and ligamentum arteriosum, dog (MONDO:1012417)
retinal dysplasia and internal hydrocephalus, cattle (MONDO:1012429)
Laron dwarfism, cattle (MONDO:1012365)
compulsive disorder, dog (MONDO:1012411)
hemangiosarcoma, orange-winged Amazon parrot (MONDO:1012458)
laryngeal paralysis, cattle (MONDO:1012324)
primary open angle glaucoma, dog (MONDO:1012498)
reduced glutathione deficiency due to amino-acid transport defect, sheep (MONDO:1012336)
familial thoracic aortic aneurysm, dog (MONDO:1012381)
dysphagia-associated muscular dystrophy, dog (MONDO:1012173)
osteodystrophy, cattle (MONDO:1012204)
reduced glutathione deficiency, dog (MONDO:1012337)
PIK3R2-related overgrowth spectrum (MONDO:1040004)
immune-mediated myositis, horse (MONDO:1012518)
shivers, horse (MONDO:1012172)
gluten-sensitive enteropathy, dog (MONDO:1012343)
self-mutilation syndrome, horse (MONDO:1012308)
arthritis deformans, pig (MONDO:1012013)
primary ciliary dyskinesia, pig (MONDO:1012140)
tremor, pig (MONDO:1012281)
hemangiosarcoma, sheep (MONDO:1012464)
craniomandibular osteopathy, dog (MONDO:1012054)
renal amyloidosis, cattle (MONDO:1012011)
polled and multisystemic syndrome, cattle (MONDO:1012444)
immunoglobulin G2 deficiency, cattle (MONDO:1012134)
muscular dystrophy-dystroglycanopathy (limb-girdle), domestic cat (MONDO:1012427)
atopy, dog (MONDO:1012017)
congenital copper deficiency, goat (MONDO:1012053)
malignant melanoma, lion (MONDO:1012443)
tapetal degeneration, dog (MONDO:1012263)
ocular-skeletal dysplasia, dog (MONDO:1012063)
warts between hooves, cattle (MONDO:1012286)
pentalogy of Fallot, dog (MONDO:1012469)
congenital muscular dystrophy without intellectual disability (MONDO:1040033)
dermal allergy, horse (MONDO:1012060)
nephropathy, pig (MONDO:1012187)
thrombopathia, pig (MONDO:1012274)
turning calves syndrome, cattle (MONDO:1012522)
hyperkinesis, dog (MONDO:1012107)
digital dermatitis, cattle (MONDO:1012531)
tremor, domestic cat (MONDO:1012280)
reduced glutathione deficiency, sheep (MONDO:1012339)
premature senesence, rabbit (MONDO:1012326)
idiopathic hepatic fibrosis, cattle (MONDO:1012103)
osteochondroma causing progressive posterior paresis, dog (MONDO:1012201)
bone spavin, red deer (MONDO:1012335)
dystrophic epidermolysis bullosa, dog (MONDO:1012068)
neuronal vacuolar disorder, dog (MONDO:1012360)
spastic paresis, pig (MONDO:1012252)
progressive rod-cone degeneration, dog (MONDO:1012359)
sebaceous adenitis, dog (MONDO:1012415)
polyneuropathy, dog (MONDO:1012354)
neurological syndrome, dog (MONDO:1012191)
calvarial hyperostotic syndrome, lion (MONDO:1012533)
cavitating leukodystrophy, dog (MONDO:1012530)
facial dysplasia syndrome, cattle (MONDO:1012510)
internal hydrocephalus, dog (MONDO:1012105)
spina bifida with myelomeningocele, cattle (MONDO:1012256)
Laron dwarfism, pig (MONDO:1012364)
androgen insensitivity syndrome, pig (MONDO:1012267)
peripheral axonopathy, domestic cat (MONDO:1012024)
exfoliative cutaneous lupus erythematosus, dog (MONDO:1012422)
hypoadrenocorticism, domestic cat (MONDO:1012110)
Kurosawa and Kusanagi hypercholesterolaemia, rabbit (MONDO:1012416)
hypoadrenocorticism, horse (MONDO:1012111)
hemangiosarcoma, cattle (MONDO:1012463)
gyrate atrophy of choroid and retina, domestic cat (MONDO:1012447)
hypotrichosis with short life expectancy, domestic cat (MONDO:1012489)
tibial dyschondroplasia, chicken (MONDO:1012275)
cerebellar abiotrophy, domestic cat (MONDO:1012039)
congenital hypomyelinogenesis, dog (MONDO:1012114)
cervical vertebral compressive myelopathy, dog (MONDO:1012479)
persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, cattle (MONDO:1012327)
myoclonus epilepsy of Lafora, Eurasian elk (MONDO:1012180)
neuroaxonal dystrophy with cerebellar abiotrophy, domestic cat (MONDO:1012421)
alpha fucosidosis, dog (MONDO:1012087)
lethal arthrogryposis syndrome, cattle (MONDO:1012491)
displaced abomasum, sheep (MONDO:1012300)
primary hypoadrenocorticism, dog (MONDO:1012113)
androgen insensitivity syndrome, horse (MONDO:1012266)
follicular dysplasia and interface dermatitis, dog (MONDO:1012375)
ventricular arrhythmias and sudden death, dog (MONDO:1012285)
degenerative myeloencephalopathy, horse (MONDO:1012309)
laryngeal paralysis, dog (MONDO:1012322)
dystrophic epidermolysis bullosa, goat (MONDO:1012071)
renal insufficiency, dog (MONDO:1012237)
hemolytic uremic syndrome, dog (MONDO:1012100)
subacute necrotising encephalopathy of Leigh, dog (MONDO:1012292)
invasive transitional cell carcinoma, dog (MONDO:1012404)
megaesophagus, cattle (MONDO:1012158)
tetragametic chimerism, bighorn sheep (MONDO:1012081)
congenital hydranencephaly and cerebellar hypoplasia, cattle (MONDO:1012435)
immunodeficiency disease, domestic cat (MONDO:1012126)
neuronal abiotrophy, dog (MONDO:1012310)
congenital stationary night blindness, LRIT3-related, dog (MONDO:1011262)
spontaneous cardiomyopathy, turkey (MONDO:1012036)
hemolytic uremic syndrome, cattle (MONDO:1012101)
bleeding disorder, pig (MONDO:1012029)
pentalogy of Fallot, horse (MONDO:1012470)
multiple exostoses, dog (MONDO:1012073)
fibrodysplasia ossificans, dog (MONDO:1012078)
mitral valve dysplasia, horse (MONDO:1012557)
chronic myelogenous leukemia, dog (MONDO:1012405)
androgen insensitivity syndrome, cattle (MONDO:1012268)
ocular squamous cell carcinoma, cattle (MONDO:1012197)
congential hepatic fibrosis, dog (MONDO:1012543)
hemangiosarcoma, African hunting dog (MONDO:1012459)
ocular squamous cell carcinoma, goat (MONDO:1012198)
primary autoimmune hemolytic anemia, dog (MONDO:1012098)
methicillin-susceptible staphylococcus aureus infectious disease (MONDO:1040020)
displaced abomasum, cattle (MONDO:1012299)
displaced abomasum, water buffalo (MONDO:1012298)
cancer, pig (MONDO:1012572)
axonopathy, cattle (MONDO:1012295)
verrucous epidermal...

v2024-07-02

Overview:

• Number of new terms: 641
• Number of changed labels: 2
• Number of changed definitions: 3
• Number obsoleted terms: 5
• Number of new obsoletion candidates: 352
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0968990	genetic central precocious puberty in male
MONDO:0968991	non-genetic central precocious puberty in male
MONDO:0970943	spermatogenic failure, x-linked, 8
MONDO:0970944	Leigh syndrome, mitochondrial
MONDO:0970945	developmental and epileptic encephalopathy 116
MONDO:0970950	Rothmund-Thomson syndrome, type 4
MONDO:0970951	El Hayek-Chahrour neurodevelopmental disorder
MONDO:0970952	spermatogenic failure 91
MONDO:0970957	terminal extramedullary conus spinal cord lipoma	A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus.
MONDO:0970958	transitional extramedullary conus spinal cord lipoma	A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-\transitional" between posterior and terminal conus region spinal cord lipoma."
MONDO:0970959	posterior extramedullary conus spinal cord lipoma	A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated.
MONDO:0970960	lipomatous non-saccular limited dorsal myeloschisis	A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers.
MONDO:0970961	fibroneural non-saccular limited dorsal myeloschisis	A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues.
MONDO:0970962	terminal myelocystocele	A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele).
MONDO:0970963	saccular limited dorsal myeloschisis	A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present.
MONDO:0970964	myelic limited dorsal malformation	A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized.
MONDO:0970993	immunodeficiency 119
MONDO:0970994	immunodeficiency 120
MONDO:0970995	premature ovarian failure 24
MONDO:0970998	auroneurodental syndrome
MONDO:0970999	spermatogenic failure 92
MONDO:0971000	spermatogenic failure 93
MONDO:0971001	immunodeficiency 121 with autoinflammation
MONDO:0971002	spermatogenic failure 94
MONDO:0971004	amyloidosis, hereditary systemic 1
MONDO:0971005	MHC class II deficiency 1
MONDO:0971006	MHC class I deficiency 1
MONDO:0971007	neuroocular syndrome 1
MONDO:0971008	amyloidosis, hereditary systemic 3
MONDO:0971009	amyloidosis, hereditary systemic 5
MONDO:0971010	amyloidosis, hereditary systemic 6
MONDO:0971011	MHC class I deficiency 2
MONDO:0971012	MHC class I deficiency 3
MONDO:0971013	MHC class II deficiency 2
MONDO:0971014	MHC class II deficiency 3
MONDO:0971015	MHC class II deficiency 4
MONDO:0971016	MHC class II deficiency 5
MONDO:1011400	pituitary-dependent hyperadrenocorticism, non-human animal	Pituitary-dependent hyperadrenocorticism that occurs in non-human animals.
MONDO:1011401	type 1 diabetes mellitus, non-human animal	Type 1 diabetes mellitus that occurs in non-human animals.
MONDO:1011402	type 2 diabetes mellitus, non-human animal	Type 2 diabetes mellitus that occurs in non-human animals.
MONDO:1011403	hyperadrenocorticism, non-human animal	Hyperadrenocorticism that occurs in non-human animals.
MONDO:1011404	metabolic syndrome, non-human animal	Metabolic syndrome that occurs in non-human animals.
MONDO:1011405	Diamond-Blackfan anemia, non-human animal	Diamond-Blackfan anemia that occurs in non-human animals.
MONDO:1011406	autoimmune hemolytic anemia, non-human animal	Autoimmune hemolytic anemia that occurs in non-human animals.
MONDO:1011407	nonspherocytic hemolytic anemia, non-human animal	Nonspherocytic hemolytic anemia that occurs in non-human animals.
MONDO:1011408	hemophilia A, non-human animal	Hemophilia A that occurs in non-human animals.
MONDO:1011409	portosystemic shunt, non-human animal	Portosystemic shunt that occurs in non-human animals.
MONDO:1011410	vitamin-K-dependent blood coagulation factors deficiency, non-human animal	Vitamin-K-Dependent blood coagulation factors deficiency that occurs in non-human animals.
MONDO:1011411	Von Willebrand disease, non-human animal	Von Willebrand disease that occurs in non-human animals.
MONDO:1011412	methemoglobinemia, non-human animal	Methemoglobinemia that occurs in non-human animals.
MONDO:1011413	paroxysmal nocturnal hemoglobinuria, non-human animal	Paroxysmal nocturnal hemoglobinuria that occurs in non-human animals.
MONDO:1011414	vestibular disease, non-human animal	Vestibular disease that occurs in non-human animals.
MONDO:1011415	amyloidosis, non-human animal	Amyloidosis that occurs in non-human animals.
MONDO:1011416	calcinosis circumscripta, non-human animal	Calcinosis circumscripta that occurs in non-human animals.
MONDO:1011417	hypertriglyceridemia, non-human animal	Hypertriglyceridemia that occurs in non-human animals.
MONDO:1011418	porphyria, non-human animal	Porphyria that occurs in non-human animals.
MONDO:1011419	glycogen storage disease, non-human animal	Glycogen storage disease that occurs in non-human animals.
MONDO:1011420	hyperhomocysteinemia, non-human animal	Hyperhomocysteinemia that occurs in non-human animals.
MONDO:1011421	complement component 3 deficiency, non-human animal	Complement component 3 deficiency that occurs in non-human animals.
MONDO:1011422	severe combined immunodeficiency disease, non-human animal	Severe combined immunodeficiency disease that occurs in non-human animals.
MONDO:1011423	Complement component 6 deficiency, non-human animal	Complement component 6 deficiency that occurs in non-human animals.
MONDO:1011424	Complement component 2 deficiency, non-human animal	Complement component 2 deficiency that occurs in non-human animals.
MONDO:1011425	Ehlers-Danlos syndrome, non-human animal	Ehlers-Danlos syndrome that occurs in non-human animals.
MONDO:1011426	junctionalis epidermolysis bullosa , non-human animal	Junctionalis epidermolysis bullosa that occurs in non-human animals.
MONDO:1011427	ichthyosis, non-human animal	Ichthyosis that occurs in non-human animals.
MONDO:1011428	epidermolysis bullosa simplex, non-human animal	Epidermolysis bullosa simplex that occurs in non-human animals.
MONDO:1011429	hepatic lipidosis, non-human animal	Hepatic lipidosis that occurs in non-human animals.
MONDO:1011430	neuronal ceroid lipofuscinosis, non-human animal	Neuronal ceroid lipofuscinosis that occurs in non-human animals.
MONDO:1011431	Gaucher disease, non-human animal	Gaucher disease that occurs in non-human animals.
MONDO:1011432	beta-mannosidosis, non-human animal	Beta-mannosidosis that occurs in non-human animals.
MONDO:1011433	hyperkalemic periodic paralysis, non-human animal	Hyperkalemic periodic paralysis that occurs in non-human animals.
MONDO:1011434	hypokalaemic periodic paralysis, non-human animal	Hypokalaemic periodic paralysis that occurs in non-human animals.
MONDO:1011435	Becker type muscular dystrophy, non-human animal	Becker type muscular dystrophy that occurs in non-human animals.
MONDO:1011436	histiocytosis, non-human animal	Histiocytosis that occurs in non-human animals.
MONDO:1011437	neurofibromatosis, non-human animal	Neurofibromatosis that occurs in non-human animals.
MONDO:1011438	nephroma, non-human animal	Nephroma that occurs in non-human animals.
MONDO:1011439	Wilms tumor, non-human animal	Wilms tumour that occurs in non-human animals.
MONDO:1011440	gastrointestinal stromal tumour, non-human animal	Gastrointestinal stromal tumour that occurs in non-human animals.
MONDO:1011441	mast cell tumor, non-human animal	Mast cell tumor that occurs in non-human animals.
MONDO:1011442	enteropathy-associated T cell lymphoma, non-human animal	Enteropathy-associated T cell...

v2024-06-04

Overview:

• Number of new terms: 13
• Number of changed labels: 8
• Number of changed definitions: 88
• Number obsoleted terms: 5
• Number of new obsoletion candidates: 7
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0968976	neurodevelopmental disorder with progressive movement abnormalities
MONDO:0968977	basal ganglia calcification, idiopathic, 9, autosomal recessive
MONDO:0968978	aplasia cutis-enamel dysplasia syndrome
MONDO:0968979	neurodevelopmental disorder with hypotonia and seizures
MONDO:0968980	otosclerosis 12
MONDO:0968981	autosomal recessive nonsyndromic hearing loss 124
MONDO:0968982	autoinflammation with episodic fever and immune dysregulation
MONDO:0968983	proteasome-associated autoinflammatory syndrome 6
MONDO:0968986	chaotic conus spinal cord lipoma	A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery.
MONDO:0968987	extramedullary conus spinal cord lipoma	A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs.
MONDO:0968988	saccular spinal dysraphism with a stalk to the dome	A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).
MONDO:0968989	non-saccular limited dorsal myeloschisis	A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity.
MONDO:1030000	hyperinsulinemic hypoglycemia with polycystic kidney disease	Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0008302	central precocious puberty 1	centra precocious puberty 1	central precocious puberty 1
MONDO:0012360	congenital nongoitrous hypothyroidism 3	congenital nongoitrous hypothryoidism 3	congenital nongoitrous hypothyroidism 3
MONDO:0013400	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
MONDO:0013757	congenital nongoitrous hypothyroidism 6	congenital nongoitrous hypothryoidism 6	congenital nongoitrous hypothyroidism 6
MONDO:0014493	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
MONDO:0022884	craniofacial dysostosis arthrogryposis progeroid appearance	craniofacial dysostosis arthrogryposis progeroid appearence	craniofacial dysostosis arthrogryposis progeroid appearance
MONDO:0800306	myoclonic epilepsy of Lafora 2	epilepsy, progressive myoclonic, 2b	myoclonic epilepsy of Lafora 2
MONDO:0800384	cesium poisoning	cessium poisoning	cesium poisoning

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0000291	granulomatous amebic encephalitis	Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.	Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.
MONDO:0000598	aphasia	A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.	A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.
MONDO:0000666	associative visual agnosia	An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.	An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.
MONDO:0000671	finger agnosia	An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers	An agnosia characterized by an inability to distinguish, name, or recognize the fingers
MONDO:0000678	simultanagnosia	An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.	An agnosia that is a loss of the ability to recognize a whole image or scene while retaining the ability to recognize objects or details in their visual field one at a time.
MONDO:0001220	hypoparathyroidism	Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.	Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.
MONDO:0001954	thrombophlebitis migrans	A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.	A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.
MONDO:0001998	Foster-Kennedy syndrome	Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visu...

v2024-05-08

Overview:

• Number of new terms: 75
• Number of changed labels: 19
• Number of changed definitions: 23
• Number obsoleted terms: 23
• Number of new obsoletion candidates: 18
• Number of terms who were previously candidate for obsoletion and are now not anymore: 1

New terms

Mondo ID	Label	Definition
MONDO:0100556	PRRT2-associated paroxysmal movement disorder	A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.
MONDO:0100557	RBFOX2-related congenital heart disorder	Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.
MONDO:0100558	RNU4ATAC spectrum disorder	A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.
MONDO:0100559	ALG14-congenital disorder of glycosylation	Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.
MONDO:0100560	ligneous conjunctivitis	A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.
MONDO:0100561	HBA1-related alpha thalassemia spectrum	Mild microcytic anemia caused by biallelic variation in the HBA1 gene.
MONDO:0100562	HBA2-related alpha thalassemia spectrum	Mild microcytic anemia caused by biallelic variation in the HBA2 gene.
MONDO:0100563	digenic alpha thalassemia spectrum	An instance of alpha thalessemia spectrum that is caused by an inherited multiallelic modification in an individual.
MONDO:0100564	HBA1; HBA2-related digenic alpha thalassemia spectrum	Mild microcytic anemia caused by variation in two of the four copies of the alpha hemoglobin genes, which can be in cis (e.g., large deletion of HBA1 and HBA2 genes) or in trans (e.g., HBA1 variant on one chromosome and HBA2 variant on the other chromosome).
MONDO:0100565	monogenic alpha thalassemia spectrum	An instance of alpha thalessemia spectrum that is caused by an inherited monogenomic modification in an individual.
MONDO:0100566	myoclonic epilepsy in infancy
MONDO:0100567	hereditary angioedema with normal C1Inh	A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.
MONDO:0100568	obsolete Mycobacterium tuberculosis, protection against
MONDO:0100569	ACD-related short telomere syndrome	A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.
MONDO:0100570	ACD-related long telomere syndrome	A telomere biology disorder typically characterized by increased telomere length due to a pathogenic variant in the ACD gene that may cause familial melanoma.
MONDO:0100571	CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy	Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.
MONDO:0700267	BARD1-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma.
MONDO:0700268	BRCA1-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the BRAC1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described.
MONDO:0700269	BRCA2-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described.
MONDO:0700270	ATM-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.
MONDO:0700271	CHEK2-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.
MONDO:0700272	PALB2-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.
MONDO:0700273	RAD51C-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.
MONDO:0700274	RAD51D-related cancer predisposition	Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.
MONDO:0800459	noxacusis	Noxacusis/pain hyperacusis is characterized by individuals who experience otalgia or pain (e.g., dull ache, burning, sharp, stabbing pain and throbbing pain) in response to everyday sounds. This differs clinically from those whose primary symptom is the perception of everyday sounds as excessively loud (termed loudness hyperacusis).
MONDO:0800469	ACD-related telomere biology disorder	A complex set of inherited conditions caused by a pathogenic variant(s) in the ACD gene that results in aberrant telomere biology.
MONDO:0800485	AKT3-related overgrowth spectrum	Any overgrowth syndrome where the cause of the disease is a gain-of-function variant in the AKT3 gene.
MONDO:0958295	BCOR ITD sarcoma	A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication.
MONDO:0958296	BCOR-CCNB3 sarcoma	A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.
MONDO:0958297	childhood sarcoma with BCOR genetic alterations	A sarcoma with BCOR genetic alterations that occurs during childhood.
MONDO:0958298	childhood round cell sarcoma with EWSR1-non-ETS fusion	A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.
MONDO:0958299	round cell sarcoma with EWSR1-NFATC2 gene fusion	A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.
MONDO:0958300	round cell sarcoma with EWSR1-PATZ1 gene fusion	A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion.
MONDO:0958301	round cell sarcoma with FUS-NFATC2 g...

v2024-04-02

Overview:

• Number of new terms: 125
• Number of changed labels: 12
• Number of changed definitions: 17
• Number obsoleted terms: 23
• Number of new obsoletion candidates: 16
• Number of terms who were previously candidate for obsoletion and are now not anymore: 3

New terms

Mondo ID	Label	Definition
MONDO:0100551	SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss	A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.
MONDO:0100552	ATTRV30M amyloidosis	A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
MONDO:0100553	OPTN-related open angle glaucoma	Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.
MONDO:0100554	hereditary narcolepsy	An instance of narcolepsy that is caused by an inherited genomic modification in an individual.
MONDO:0100555	IgA nephropathy, susceptibility to	An inherited susceptibility or predisposition to developing IgA glomerulonephritis.
MONDO:0700245	epidermolytic hyperkeratosis 2B, autosomal recessive
MONDO:0700248	epidermolytic hyperkeratosis 2A, autosomal dominant
MONDO:0700249	epidermolytic hyperkeratosis 1
MONDO:0700250	mitochondrial complex IV deficiency, nuclear type 1
MONDO:0700251	orofacial cleft 7
MONDO:0700252	parneoplastic endocrine syndrome	Paraneoplastic syndrome that involves the endocrine system.
MONDO:0700253	paraneoplastic hematological syndrome	Paraneoplastic syndrome that involves the hematopoietic system.
MONDO:0700254	paraneoplastic gastrointestinal syndrome	Paraneoplastic syndrome that involves the digestive system.
MONDO:0700255	paraneoplastic renal syndrome	Paraneoplastic syndrome that involves the renal system.
MONDO:0700256	TREX1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
MONDO:0700257	RNASEH2B-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700258	RNASEH2C-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700259	RNASEH2A-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700260	SAMHD1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.
MONDO:0700261	ADAR-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.
MONDO:0700262	IFIH1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.
MONDO:0700263	RNU7-1-related type 1 interferonopathy	Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
MONDO:0700264	type 1 interferonopathy	Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.
MONDO:0700265	paraneoplastic rheumatic syndrome	Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.
MONDO:0700266	paraneoplastic cutaneous syndrome	Paraneoplastic syndrome that involves the integumental system.
MONDO:0956962	benign teratoma	A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.
MONDO:0956964	medulloblastoma SHH activated and TP53 mutant	A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
MONDO:0956965	medulloblastoma SHH activated and TP53 wild-type	A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
MONDO:0956966	medulloblastoma non-WNT/non-SHH group 3	A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.
MONDO:0956967	medulloblastoma non-WNT/non-SHH group 4	A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present.
MONDO:0956969	chronic inducible urticaria	A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.
MONDO:0956971	intermittent asthma	A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity.
MONDO:0956975	T2-high asthma	A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease.
MONDO:0956976	T2-low asthma	A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy.
MONDO:0956977	near-fatal asthma	An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation.
MONDO:0956979	nocturnal asthma	A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.
MONDO:0956980	vascular parkinsonism	A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin.
MONDO:0956981	astrocytoma, IDH-mutant, grade 4	An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.
MONDO:0956983	pleomorphic xanthoastrocytoma BRAF mutant	An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.
MONDO:0956984	YAP1-MAMLD1 fusion-positive supratentorial ependymoma	A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.
MONDO:0956985	lipofibromatosis-like neural tumor	A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.
MONDO:0956986	solitary fibrous tumor/hemangiopericytoma	A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas.
MONDO:0956987	EZB-MYC+ diffuse large B-cell lymphoma	An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. I...

v2024-03-04

Overview:

• Number of new terms: 34
• Number of changed labels: 5
• Number of changed definitions: 10
• Number obsoleted terms: 6
• Number of new obsoletion candidates: 17
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100539	hemiplegic migraine-developmental and epileptic encephalopathy spectrum	A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.
MONDO:0100540	GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	A congenital heart disease that is present at birth. Representative examples include atrial septal defect 9, conotruncal heart malformations, tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, bicuspid aortic valve, transposition of the great arteries, persistent truncus arteriosus, congenital heart disease with pancreatic agenesis, and congenital heart disease with neonatal diabetes.
MONDO:0100541	GATA5-related congenital heart defects	A congenital heart disease that is present at birth. Representative examples include tetralogy of fallot, bicuspid aortic valve, atrial septal defect, double outlet right ventricle, ventricular septal defect, and coarctation of the aorta, and atrioventricular canal.
MONDO:0100542	clonal hematopoiesis	A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.
MONDO:0100543	clonal hematopoiesis of indeterminate potential	A precancerous condition characterized by the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential.
MONDO:0100544	age-related clonal hematopoiesis	A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers.
MONDO:0100545	hereditary neurological disease	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.
MONDO:0100546	hereditary neuromuscular disease	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.
MONDO:0100547	cardiogenetic disease	A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.
MONDO:0100548	SERAC1-related neurological disorder	Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene.
MONDO:0100549	focal nodular hyperplasia	A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar.
MONDO:0100550	orbital myositis	A rare form of myositis that affects only the orbital muscles.
MONDO:0800453	juvenile absence epilepsy	A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.
MONDO:0958083	conjoined twins
MONDO:0958091	cleft palate-congenital heart defect-intellectual disability syndrome
MONDO:0958094	adult-onset progressive leukoencephalopathy-early-onset deafness	A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.
MONDO:0958106	congenital insensitivity to pain syndrome, Marsili type
MONDO:0958110	atrophic papulosis
MONDO:0958115	autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
MONDO:0958116	autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
MONDO:0958117	autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
MONDO:0958118	autosomal recessive combined immunodeficiency due to IL6R deficiency
MONDO:0958119	embryonal tumor with multilayered rosettes	A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.
MONDO:0958120	autosomal dominant combined immunodeficiency due to ERBIN deficiency
MONDO:0958127	transplant-related bronchiolitis obliterans
MONDO:0958199	myoclonic epilepsy of Lafora 1
MONDO:0958200	intellectual developmental disorder, x-linked 113
MONDO:0958201	myoclonic epilepsy of Lafora 2
MONDO:0958202	moyamoya disease 7
MONDO:0958203	intellectual developmental disorder, autosomal dominant 74
MONDO:0958204	intellectual developmental disorder, autosomal recessive 81
MONDO:0958205	Yuksel-Vogel-Bauer syndrome
MONDO:0958206	spermatogenic failure 89
MONDO:1030001	epilepsy, juvenile absence, susceptibility to

Changed terms

Changed labels

Mondo ID	Label	Previous release	New release
MONDO:0004769	orbital pseudotumor	orbital plasma cell granuloma	orbital pseudotumor
MONDO:0009929	surfactant metabolism dysfunction, pulmonary, 1	neonatal acute respiratory distress due to SP-B deficiency	surfactant metabolism dysfunction, pulmonary, 1
MONDO:0012280	Goldberg-Shprintzen syndrome	Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen syndrome
MONDO:0016499	autoimmune autonomic ganglionopathy	acute pandysautonomia	autoimmune autonomic ganglionopathy
MONDO:0957820	congenital disorder of glycosylation, type IIbb	congenital disorder of glycosylation, type IIb	congenital disorder of glycosylation, type IIbb

Changed definitions

Mondo ID	Label	Previous release	New release
MONDO:0005775	G6PD deficiency	An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.	An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.
MONDO:0005594	severe cutaneous adverse reaction	A permanent mark left on the skin in the process of wound healing.	A group of skin disorders including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), acute generalized exanthematous pustulosis (AGEP), and generalized bullous fixed drug eruptions (GBFDE).
MONDO:0006553	Fox-Fordyce disease	Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.	A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped i...

v2024-02-06

Overview:

• Number of new terms: 126
• Number of changed labels: 8
• Number of changed definitions: 9
• Number obsoleted terms: 19
• Number of new obsoletion candidates: 40
• Number of terms who were previously candidate for obsoletion and are now not anymore: 0

New terms

Mondo ID	Label	Definition
MONDO:0100533	hemorrhage, intracerebral, susceptibility to	An inherited susceptibility or predisposition to developing intracerebral hemorrhage.
MONDO:0100534	SMARCB1-deficient kidney medullary carcinoma	A high-grade carcinoma that arises from the renal medulla and is characterized by inactivation of the SMARCB1 gene. It affects children and adults and occurs mainly in patients with sickle cell trait. The majority of the cases occur in the right kidney.
MONDO:0100535	hypodontia/oligodontia with orofacial cleft
MONDO:0100536	tooth agenesis, selective, with orofacial cleft
MONDO:0100537	plasminogen deficiency, type II
MONDO:0100538	dysplasminogenemia
MONDO:0700246	ocular dysgenesis caused by defects in PAX6 regulation	Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.
MONDO:0700247	RAB18 deficiency	Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.
MONDO:0800451	congenital amegakaryocytic thrombocytopenia
MONDO:0800452	congenital amegakaryocytic thrombocytopenia 1	A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.
MONDO:0957316	epidermolytic hyperkeratosis
MONDO:0957317	hematuria, benign familial
MONDO:0957318	nephrolithiasis, calcium oxalate
MONDO:0957319	pseudohypoaldosteronism, type I
MONDO:0957400	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis
MONDO:0957553	Houge-Janssens syndrome
MONDO:0957560	hearing loss, noise-induced, susceptibility to
MONDO:0957561	encephalitis, acute, infection-induced, susceptibility to, 12
MONDO:0957563	cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
MONDO:0957564	congenital smooth muscle hamartoma, with or without hemihypertrophy
MONDO:0957572	thrombocytopenia 9
MONDO:0957575	amegakaryocytic thrombocytopenia, congenital, 2
MONDO:0957576	parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
MONDO:0957577	variegate porphyria, childhood-onset
MONDO:0957578	thrombocytopenia 10
MONDO:0957580	bleeding disorder, platelet-type, 25
MONDO:0957583	neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
MONDO:0957584	spermatogenic failure 85
MONDO:0957588	neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
MONDO:0957593	spermatogenic failure 86
MONDO:0957594	spermatogenic failure 87
MONDO:0957595	Ziegler-Huang syndrome
MONDO:0957599	epilepsy, early-onset
MONDO:0957779	neurodevelopmental disorder with language delay and variable cognitive abnormalities
MONDO:0957780	developmental and epileptic encephalopathy 111
MONDO:0957783	ichthyosis with erythrokeratoderma
MONDO:0957786	xerosis and growth failure with immune and pulmonary dysfunction syndrome
MONDO:0957787	Fliedner-Zweier syndrome
MONDO:0957788	spastic paraplegia 18a, autosomal dominant
MONDO:0957790	immune dysregulation, autoimmunity, and autoinflammation
MONDO:0957791	neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
MONDO:0957795	arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
MONDO:0957807	hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
MONDO:0957809	neutropenia, severe congenital, 10, autosomal recessive
MONDO:0957810	developmental delay, dysmorphic facies, and brain anomalies
MONDO:0957811	Alport syndrome 3b, autosomal recessive
MONDO:0957812	developmental and epileptic encephalopathy 112
MONDO:0957813	spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
MONDO:0957815	developmental delay with or without epilepsy
MONDO:0957819	arthrogryposis, distal, type 12
MONDO:0957820	congenital disorder of glycosylation, type IIb
MONDO:0957821	spermatogenic failure 88
MONDO:0957822	premature ovarian failure 22
MONDO:0957824	optic atrophy 14
MONDO:0957825	deafness, autosomal recessive 121
MONDO:0957832	craniometadiaphyseal osteosclerosis with hip dysplasia
MONDO:0957870	leukoencephalopathy with vanishing white matter 2
MONDO:0957871	leukoencephalopathy with vanishing white matter 3
MONDO:0957872	leukoencephalopathy with vanishing white matter 4
MONDO:0957873	leukoencephalopathy with vanishing white matter 5
MONDO:0957874	neuronopathy, distal hereditary motor, autosomal recessive 9
MONDO:0957875	neuronopathy, distal hereditary motor, autosomal dominant 11
MONDO:0957876	neuronopathy, distal hereditary motor, autosomal recessive 10
MONDO:0957919	Lui-Jee-Baron syndrome
MONDO:0957920	immunodeficiency 113 with autoimmunity and autoinflammation
MONDO:0957921	Cornelia de Lange syndrome 6
MONDO:0957922	ciliary dyskinesia, primary, 52
MONDO:0957928	otosclerosis 11
MONDO:0957935	optic atrophy 15
MONDO:0957953	Garg-Mishra progeroid syndrome
MONDO:0957954	lymphatic malformation 14
MONDO:0957955	immunodeficiency 114, folate-responsive
MONDO:0957958	spastic paraplegia 72b, autosomal recessive
MONDO:0957960	Long-Olsen-Distelmaier syndrome
MONDO:0957961	oocyte/zygote/embryo maturation arrest 21
MONDO:0957978	optic atrophy 16
MONDO:0957981	immunodeficiency 115 with autoinflammation
MONDO:0957984	cardiomyopathy, dilated, 2j
MONDO:0957985	neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
MONDO:0957988	osteogenesis imperfecta, type 23
MONDO:0957990	Tan-Almurshedi syndrome
MONDO:0957991	ciliary dyskinesia, primary, 53
MONDO:0957992	combined oxidative phosphorylation deficiency 59
MONDO:0957993	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
MONDO:0957997	diabetes, deafness, developmental delay, and short stature syndrome
MONDO:0957999	intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
MONDO:0958000	thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
MONDO:0958001	Alfadhel syndrome
MONDO:0958005	Hoxha-Aliu syndrome
MONDO:0958006	spondyloepimetaphyseal dysplasia, Guo-Campeau type
MONDO:0958009	spastic ataxia 10, autosomal recessive
MONDO:0958011	immunodeficiency 117
MONDO:0958012	neurodegeneration with brain iron accumulation 9
MONDO:0958013	immunodeficiency, common variable, 15
MONDO:0958017	neutropenia, severe congenital, 11, autosomal dominant
MONDO:0958018	leukodystrophy, hypomyelinating, 27
MONDO:0958022	lipodystrophy, familial partial, type 8
MONDO:0958023	lipodystrophy, congenital generalized, type 5
MONDO:0958030	immunodeficiency 118
MONDO:0958034	lipodystrophy, familial partial, type 9
MONDO:0958035	premature ovarian failure 23
MONDO:0958037	developmental dysplasia of the hip 3
MONDO:0958174	basal cell nevus syndrome 1
MONDO:0958175	craniofacial microsomia 1
MONDO:0958176	oculopharyngeal muscular dystrophy 1
MONDO:0958177	chronic recurrent multifocal osteomyelitis 3
MONDO:0958178	cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
MONDO:0958179	glycine encephalopathy 1
MONDO:0958180	prolonged electroretinal response suppression 1
MONDO:0958181	...