Releases v2020-04-29
Summary
393 new classes
43 classes were obsoleted
64 classes were renamed
New Classes
MONDO:0020753 Orthocoronavirinae infectious diseaseMONDO:0020754 visceral myopathyMONDO:0020756 migraine, familial hemiplegic, 1MONDO:0020757 sporadic hemiplegic migraineMONDO:0020759 epilepsy, childhood absence, susceptibility to, 1MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2MONDO:0020763 Menke-Hennekam syndrome 1MONDO:0020765 neuropathy, congenital hypomyelinating, 2MONDO:0020766 neuropathy, congenital hypomyelinating, 3MONDO:0020768 X-linked deafnessMONDO:0020769 Menke-Hennekam syndrome 2MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathyMONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1MONDO:0020774 Menke-Hennekam syndromeMONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2MONDO:0020778 cone-rod dystrophy and hearing loss 1MONDO:0020780 cone-rod dystrophy and hearing loss 2MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1MONDO:0020783 capillary malformation-arteriovenous malformation 1MONDO:0020784 obsolete short sleep, familial natural, 1MONDO:0020785 capillary malformation-arteriovenous malformation 2MONDO:0020786 obsolete short sleep, familial natural, 2MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2MONDO:0024182 dry beriberiMONDO:0024183 wet beriberiMONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30MONDO:0026722 Mullegama-Klein-Martinez syndromeMONDO:0026723 intellectual developmental disorder, X-linked 108MONDO:0026724 Paganini-Miozzo syndromeMONDO:0026726 nephrotic syndrome, type 20MONDO:0026727 Shukla-Vernon syndromeMONDO:0026729 congenital disorder of glycosylation, type ICCMONDO:0026730 Basilicata-Akhtar syndromeMONDO:0026731 hypothyroidism, congenital, nongoitrous, 8MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9MONDO:0026733 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato typeMONDO:0026782 chondrodysplasia punctata 2, X-linked dominantMONDO:0027048 deafness, Y-linked 2MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1MONDO:0027069 mitochondrial complex 5 (atp synthase) deficiency, mitochondrial type 1MONDO:0032485 intellectual developmental disorder 61MONDO:0032526 spinocerebellar ataxia 48MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomaliesMONDO:0032566 squalene synthase deficiencyMONDO:0032567 isolated growth hormone deficiency, type 4MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delayMONDO:0032569 isolated growth hormone deficiency, type 5MONDO:0032570 Joubert syndrome 35MONDO:0032571 spondyloepimetaphyseal dysplasia, Krakow typeMONDO:0032572 cardiac, facial, and digital anomalies with developmental delayMONDO:0032573 bone marrow failure syndrome 5MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digitsMONDO:0032575 diarrhea 9MONDO:0032577 retinitis pigmentosa 83MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9MONDO:0032579 warburg-cinotti syndromeMONDO:0032580 nephrotic syndrome, type 17MONDO:0032581 nephrotic syndrome, type 18MONDO:0032582 nephrotic syndrome, type 19MONDO:0032583 microcephaly 24, primary, autosomal recessiveMONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosisMONDO:0032586 diarrhea 10, protein-losing enteropathy typeMONDO:0032588 periventricular nodular heterotopia 8MONDO:0032590 ovarian dysgenesis 8MONDO:0032591 hyperparathyroidism, transient neonatalMONDO:0032592 cardiomyopathy, dilated, 2cMONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRPMONDO:0032596 myasthenic syndrome, congenital, 23, presynapticMONDO:0032597 myasthenic syndrome, congenital, 24, presynapticMONDO:0032598 epileptic encephalopathy, early infantile, 68MONDO:0032599 immunodeficiency 15aMONDO:0032600 snijders blok-campeau syndromeMONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathyMONDO:0032603 polydactyly, postaxial, type A9MONDO:0032604 retinitis pigmentosa 84MONDO:0032605 mental retardation, autosomal recessive 66MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunctionMONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33MONDO:0032637 ciliary dyskinesia, primary, 39MONDO:0032639 deafness, autosomal recessive 112MONDO:0032641 mirror movements 4MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentMONDO:0032643 pontocerebellar hypoplasia, type 12MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3MONDO:0032645 trichohepatoneurodevelopmental syndromeMONDO:0032646 congenital anomalies of kidney and urinary tract 3MONDO:0032647 global developmental delay, lung cysts, overgrowth, and wilms tumorMONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformationsMONDO:0032649 hypotrichosis 14MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophyMONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosisMONDO:0032653 cardiac-urogenital syndromeMONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessiveMONDO:0032655 visual impairment and progressive phthisis bulbiMONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatumMONDO:0032657 epileptic encephalopathy, early infantile, 69MONDO:0032658 macrocephaly, acquired, with impaired intellectual developmentMONDO:0032659 mucocutaneous ulceration, chronicMONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominantMONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaMONDO:0032662 intellectual developmental disorder, autosomal recessive 67MONDO:0032663 epileptic encephalopathy, early infantile, 70MONDO:0032664 ciliary dyskinesia, primary, 40MONDO:0032665 intellectual developmental disorder, autosomal recessive 68MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5MONDO:0032668 diamond-blackfan anemia 18MONDO:0032669 diamond-blackfan anemia 19MONDO:0032670 diamond-blackfan anemia 20MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic faciesMONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessiveMONDO:0032675 myasthenic syndrome, congenital, 25, presynapticMONDO:0032677 lissencephaly 9 with complex brainstem malformationMONDO:0032678 epileptic encephalopathy, early infantile, 71MONDO:0032679 combined oxidative phosphorylation deficiency 37MONDO:0032680 global developmental delay with or without impaired intellectual developmentMONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysisMONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyMONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual developmentMONDO:0032686 spermatogenic failure 35MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short statureMONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndromeMONDO:0032689 retinitis pigmentosa 85MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformationsMONDO:0032691 Galloway-Mowat syndrome 6MONDO:0032692 Galloway-Mowat syndrome 7MONDO:0032693 Galloway-Mowat syndrome 8MONDO:0032694 microcephaly 25, primary, autosomal recessiveMONDO:0032696 oocyte maturation defect 6MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalitiesMONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunctionMONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15MONDO:0032702 Coffin-Siris syndrome 8MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisMONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelinationMONDO:0032706 spinocerebellar ataxia, autosomal recessive 27MONDO:0032707 turnpenny-fry syndromeMONDO:0032710 epileptic encephalopathy, early infantile, 72MONDO:0032712 combined oxidative phosphorylation deficiency 38MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeMONDO:0032715 intellectual developmental disorder, autosomal recessive 69MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarateMONDO:0032717 amelogenesis imperfecta, type 3cMONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu typeMONDO:0032723 immunodeficiency 60MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3MONDO:0032725 epileptic encephalopathy, early infantile, 74MONDO:0032726 combined oxidative phosphorylation deficiency 39MONDO:0032728 charcot-marie-tooth disease, axonal, type 2eeMONDO:0032729 intellectual developmental disorder, autosomal recessive 70MONDO:0032730 leukodystrophy, hypomyelinating, 18MONDO:0032732 deafness, autosomal recessive 113MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamineMONDO:0032735 cataract 48MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionMONDO:0032737 spastic paraplegia 80, autosomal dominantMONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyMONDO:0032739 spermatogenic failure 36MONDO:0032740 deafness, autosomal recessive 100MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movementsMONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9MONDO:0032744 spermatogenic failure 37MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalitiesMONDO:0032746 hydatidiform mole, recurrent, 3MONDO:0032747 hydatidiform mole, recurrent, 4MONDO:0032748 spermatogenic failure 38MONDO:0032749 deafness, autosomal recessive 94MONDO:0032750 arthrogryposis, distal, type 2b2MONDO:0032751 arthrogryposis, distal, type 2b3MONDO:0032752 epileptic encephalopathy, early infantile, 75MONDO:0032753 spastic ataxia 9, autosomal recessiveMONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBAMONDO:0032756 long qt syndrome 8MONDO:0032757 ciliary dyskinesia, primary, 41MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemiaMONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomaliesMONDO:0032760 developmental delay with or without dysmorphic facies and autismMONDO:0032761 deafness, autosomal recessive 114MONDO:0032762 deafness, autosomal recessive 115MONDO:0032763 immunodeficiency 62MONDO:0032764 Khan-Khan-Katsanis syndromeMONDO:0032765 bleeding disorder, platelet-type, 22MONDO:0032766 hypoalphalipoproteinemia, primary, 2MONDO:0032767 paragangliomas 6MONDO:0032768 epileptic encephalopathy, early infantile, 76MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defectsMONDO:0032771 paragangliomas 7MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosisMONDO:0032773 uridine-cytidineuriaMONDO:0032774 cerebellar, ocular, craniofacial, and genital syndromeMONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairmentMONDO:0032776 deafness, autosomal recessive 99MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10MONDO:0032778 arthrogryposis multiplex congenita, myogenic typeMONDO:0032779 neurodevelopmental disorder with microcephaly and structural brain anomaliesMONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalitiesMONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomaliesMONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunityMONDO:0032783 aortic valve disease 3MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsMONDO:0032785 polydactyly, postaxial, type a10MONDO:0032786 Noonan syndrome 11MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesisMONDO:0032788 cerebellar atrophy with seizures and variable developmental delayMONDO:0032789 intellectual developmental disorder, autosomal recessive 71MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalitiesMONDO:0032791 coffin-siris syndrome 10MONDO:0032792 neuropathy, hereditary motor and sensory, type VIc, with optic atrophyMONDO:0032793 o'donnell-luria-rodan syndromeMONDO:0032794 leber congenital amaurosis 19MONDO:0032795 intellectual developmental disorder 59MONDO:0032796 hyper-ige recurrent infection syndrome 4, autosomal recessiveMONDO:0032797 myopathy, congenital, with tremorMONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial featuresMONDO:0032799 mitochondrial dna depletion syndrome 16 (hepatic type)MONDO:0032800 robinow syndrome, autosomal recessive 2MONDO:0032801 erythrokeratodermia variabilis et progressiva 6MONDO:0032802 deafness, autosomal dominant 37MONDO:0032803 immunodeficiency 64MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair typeMONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and developmentMONDO:0032806 trichothiodystrophy 7, nonphotosensitiveMONDO:0032807 neurodevelopmental disorder with visual defects and brain anomaliesMONDO:0032808 epileptic encephalopathy, early infantile, 77MONDO:0032809 hepatitis, fulminant viral, susceptibility toMONDO:0032810 oocyte maturation defect 7MONDO:0032811 night blindness, congenital stationary, type1iMONDO:0032812 epileptic encephalopathy, early infantile, 78MONDO:0032813 epileptic encephalopathy, early infantile, 79MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominantMONDO:0032815 mitochondrial DNA depletion syndrome 17MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephalyMONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic faciesMONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticityMONDO:0032819 hypothyroidism, congenital, nongoitrous, 7MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesMONDO:0032821 myopathy, congenital, progressive, with scoliosisMONDO:0032822 epileptic encephalopathy, early infantile, 80MONDO:0032823 intellectual developmental disorder 60 with seizuresMONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21MONDO:0032826 nephrotic syndrome, type 21MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16MONDO:0032828 spastic tetraplegia and axial hypotonia, progressiveMONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesMONDO:0032830 snijders blok-fisher syndromeMONDO:0032831 pontocerebellar hypoplasia, type 13MONDO:0032832 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesMONDO:0032833 lower urinary tract obstruction, congenitalMONDO:0032834 retinitis pigmentosa 86MONDO:0032835 spondyloepiphyseal dysplasia, nishimura typeMONDO:0032836 weiss-kruszka syndromeMONDO:0032837 abdominal obesity-metabolic syndrome 4MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomaliesMONDO:0032839 noonan syndrome 12MONDO:0032840 rothmund-thomson syndrome, type 1MONDO:0032841 usher syndrome, type 1mMONDO:0032842 siddiqi syndromeMONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1MONDO:0032844 infantile liver failure syndrome 3MONDO:0032845 spermatogenic failure 39MONDO:0032846 osteogenesis imperfecta, type 20MONDO:0032848 immunodeficiency 65, susceptibility to viral infectionsMONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomaliesMONDO:0032850 neurooculocardiogenitourinary syndromeMONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic faciesMONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalitiesMONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominantMONDO:0032854 zimmermann-laband syndrome 3MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomaliesMONDO:0032857 diarrhea 11, malabsorptive, congenitalMONDO:0032858 epileptic encephalopathy, early infantile, 81MONDO:0032859 spermatogenic failure 40MONDO:0032860 intellectual developmental disorder, autosomal recessive 72MONDO:0032862 hydrocephalus, congenital communicating, 1MONDO:0032863 spermatogenic failure 41MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic faciesMONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10MONDO:0032867 pancreatic cancer, susceptibility to, 5MONDO:0032868 lessel-kubisch syndromeMONDO:0032869 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalitiesMONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantileMONDO:0032872 ciliary dyskinesia, primary, 42MONDO:0032873 retinitis pigmentosa 87 with choroidal involvementMONDO:0032874 ciliary dyskinesia, primary, 43MONDO:0032875 short stature and microcephaly with genital anomaliesMONDO:0032876 neurodevelopmental disorder with absent language and variable seizuresMONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresMONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotoniaMONDO:0032879 megabladder, congenitalMONDO:0032880 epileptic encephalopathy, early infantile, 82MONDO:0032881 premature ovarian failure 16MONDO:0032882 heyn-sproul-jackson syndromeMONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizuresMONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesMONDO:0032885 spondyloepimetaphyseal dysplasia, isidor-toutain typeMONDO:0032886 liang-wang syndromeMONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticityMONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomaliesMONDO:0032889 poirier-bienvenu neurodevelopmental syndromeMONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizuresMONDO:0032891 aneurysm, intracranial berry, 12MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosisMONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizuresMONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyMONDO:0032895 epileptic encephalopathy, early infantile, 83MONDO:0032896 spermatogenic failure 42MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalitiesMONDO:0032898 spermatogenic failure 43MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominantMONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsMONDO:0032901 catifa syndromeMONDO:0032902 joubert syndrome 36MONDO:0032903 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosumMONDO:0032904 corneal dystrophy, meesmann, 2MONDO:0032905 spastic paraplegia 81, autosomal recessiveMONDO:0032906 spastic paraplegia 82, autosomal recessiveMONDO:0032907 lymphatic malformation 8MONDO:0032908 cebalid syndromeMONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34MONDO:0032911 deafness, autosomal dominant 75MONDO:0032912 coffin-siris syndrome 11MONDO:0032913 congenital heart defects, multiple types, 7MONDO:0032914 ciliary dyskinesia, primary, 44MONDO:0032915 long qt syndrome 16MONDO:0032916 imagawa-matsumoto syndromeMONDO:0032917 deafness, autosomal dominant 76MONDO:0032918 epileptic encephalopathy, early infantile, 84MONDO:0032919 intellectual developmental disorder 62MONDO:0032920 juvenile arthritis due to defect in LACC1MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulationMONDO:0032922 beck-fahrner syndromeMONDO:0032923 spinocerebellar ataxia, autosomal recessive 28MONDO:0032924 ciliary dyskinesia, primary, 45MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenitalMONDO:0032926 sandestig-stefanova syndromeMONDO:0032927 triokinase and FMN cyclase deficiency syndromeMONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominantMONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxiaMONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethalMONDO:0032932 mitochondrial dna depletion syndrome 18MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominantMONDO:0032934 genitourinary and/or brain malformation syndromeMONDO:0032935 rhizomelic limb shortening with dysmorphic featuresMONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fracturesMONDO:0032937 myopathy, congenital proximal, with minicore lesionsMONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessiveMONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephalyMONDO:0032940 retinitis pigmentosa 88MONDO:0032941 myopia 27MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic faciesMONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomaliesMONDO:0033196 obsolete skin/hair/eye pigmentation, variation inMONDO:0033211 diencephalic-mesencephalic junction dysplasia syndromeMONDO:0033304 nonsyndromic deafness, Y-linkedMONDO:0033352 neuropathy, congenital hypomelinating
Obsoletions
MONDO:0000215 epilepsy, familial focal, with variable foci --> obsolete epilepsy, familial focal, with variable fociMONDO:0000841 metaphyseal dysplasia --> obsolete metaphyseal dysplasiaMONDO:0000982 Brown's tendon sheath syndrome --> obsolete Brown's tendon sheath syndromeMONDO:0001333 Patau syndrome --> obsolete Patau syndromeMONDO:0002346 malignant histiocytic disease --> obsolete malignant histiocytic diseaseMONDO:0002835 papillary transitional carcinoma --> obsolete papillary transitional carcinomaMONDO:0002985 pustulosis of palm and sole --> obsolete pustulosis of palm and soleMONDO:0003106 verrucous keratotic hemangioma --> obsolete verrucous keratotic hemangiomaMONDO:0003119 histiocytoid hemangioma --> obsolete histiocytoid hemangiomaMONDO:0003148 SM-AHNMD --> obsolete SM-AHNMDMONDO:0003161 benign ependymoma --> obsolete benign ependymomaMONDO:0003657 methotrexate-associated lymphoproliferation --> obsolete methotrexate-associated lymphoproliferationMONDO:0003703 uterine corpus leiomyomatosis --> obsolete uterine corpus leiomyomatosisMONDO:0004300 intracortical osteogenic sarcoma --> obsolete intracortical osteogenic sarcomaMONDO:0004623 prostate carcinoma in situ --> obsolete prostate carcinoma in situMONDO:0004818 benign neurilemmoma --> obsolete benign neurilemmomaMONDO:0005457 acute stress reaction --> obsolete acute stress reactionMONDO:0005948 Ritter disease --> obsolete Ritter diseaseMONDO:0006440 systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease --> obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage diseaseMONDO:0006667 B- and T-cell mixed leukemia --> obsolete B- and T-cell mixed leukemiaMONDO:0007324 chorea --> obsolete choreaMONDO:0007386 human coronavirus sensitivity --> obsolete human coronavirus sensitivityMONDO:0007714 migraine, familial hemiplegic, 1 --> obsolete migraine, familial hemiplegic, 1MONDO:0009322 halo nevi --> obsolete halo neviMONDO:0009531 lip prints --> obsolete lip printsMONDO:0009730 nephrosialidosis --> obsolete nephrosialidosisMONDO:0010892 mitochondrial myopathy and sideroblastic anemia --> obsolete mitochondrial myopathy and sideroblastic anemiaMONDO:0012234 LFS3 --> obsolete LFS3MONDO:0012649 FTSD --> obsolete FTSDMONDO:0013019 spondyloepimetaphyseal dysplasia, Pakistani type --> obsolete spondyloepimetaphyseal dysplasia, Pakistani typeMONDO:0015118 rare pulmonary disease --> obsolete rare pulmonary diseaseMONDO:0018399 rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism --> obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadismMONDO:0018819 fibular aplasia-tibial campomelia-oligosyndactyly syndrome --> obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndromeMONDO:0019566 Klippel-Trenaunay syndrome --> obsolete Klippel-Trenaunay syndromeMONDO:0020700 microcephaly, short stature, and impaired glucose metabolism --> obsolete microcephaly, short stature, and impaired glucose metabolismMONDO:0021910 aplasia cutis myopia --> obsolete aplasia cutis myopiaMONDO:0021937 Asrar Facharzt Haque syndrome --> obsolete Asrar Facharzt Haque syndromeMONDO:0022406 aksu von stockhausen syndrome --> obsolete aksu von stockhausen syndromeMONDO:0022463 anophthalmia megalocornea cardiopathy skeletal anomalies --> obsolete anophthalmia megalocornea cardiopathy skeletal anomaliesMONDO:0022857 continuous muscle fiber activity hereditary --> obsolete continuous muscle fiber activity hereditaryMONDO:0023037 elongated styloid process syndrome --> obsolete elongated styloid process syndromeMONDO:0029146 Saul-Wilson syndrome --> obsolete Saul-Wilson syndromeMONDO:0044716 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome --> obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Renaming
MONDO:0000148 pulmonary fibrosis and/or bone marrow failure, Telomere-related --> pulmonary fibrosis and/or bone marrow failure, telomere-relatedMONDO:0000215 epilepsy, familial focal, with variable foci --> obsolete epilepsy, familial focal, with variable fociMONDO:0000841 metaphyseal dysplasia --> obsolete metaphyseal dysplasiaMONDO:0000982 Brown's tendon sheath syndrome --> obsolete Brown's tendon sheath syndromeMONDO:0001333 Patau syndrome --> obsolete Patau syndromeMONDO:0001558 Potter syndrome --> Potter sequenceMONDO:0002346 malignant histiocytic disease --> obsolete malignant histiocytic diseaseMONDO:0002835 papillary transitional carcinoma --> obsolete papillary transitional carcinomaMONDO:0002985 pustulosis of palm and sole --> obsolete pustulosis of palm and soleMONDO:0003106 verrucous keratotic hemangioma --> obsolete verrucous keratotic hemangiomaMONDO:0003119 histiocytoid hemangioma --> obsolete histiocytoid hemangiomaMONDO:0003148 SM-AHNMD --> obsolete SM-AHNMDMONDO:0003161 benign ependymoma --> obsolete benign ependymomaMONDO:0003657 methotrexate-associated lymphoproliferation --> obsolete methotrexate-associated lymphoproliferationMONDO:0003703 uterine corpus leiomyomatosis --> obsolete uterine corpus leiomyomatosisMONDO:0004300 intracortical osteogenic sarcoma --> obsolete intracortical osteogenic sarcomaMONDO:0004623 prostate carcinoma in situ --> obsolete prostate carcinoma in situMONDO:0004818 benign neurilemmoma --> obsolete benign neurilemmomaMONDO:0005457 acute stress reaction --> obsolete acute stress reactionMONDO:0005579 generalised epilepsy --> epilepsy, idiopathic generalizedMONDO:0005719 coronavinae infectious disease --> Coronavinae infectious diseaseMONDO:0005948 Ritter disease --> obsolete Ritter diseaseMONDO:0006440 systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease --> obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage diseaseMONDO:0006667 B- and T-cell mixed leukemia --> obsolete B- and T-cell mixed leukemiaMONDO:0007324 chorea --> obsolete choreaMONDO:0007386 human coronavirus sensitivity --> obsolete human coronavirus sensitivityMONDO:0007714 migraine, familial hemiplegic, 1 --> obsolete migraine, familial hemiplegic, 1MONDO:0007715 hemolytic Poikilocytic anemia due to reduced ankyrin binding sites --> hemolytic poikilocytic anemia due to reduced ankyrin binding sitesMONDO:0009322 halo nevi --> obsolete halo neviMONDO:0009531 lip prints --> obsolete lip printsMONDO:0009533 Dahlberg-borer-Newcomer syndrome --> Dahlberg-Borer-Newcomer syndromeMONDO:0009625 microcephaly with spastic quadriplegia --> diencephalic-mesencephalic junction dysplasia syndrome 1MONDO:0009722 Native American myopathy --> Bailey-Bloch congenital myopathyMONDO:0009730 nephrosialidosis --> obsolete nephrosialidosisMONDO:0010220 young syndrome --> Young syndromeMONDO:0010624 IFAP/Breshek syndrome --> IFAP/BRESHECK syndromeMONDO:0010764 DFNY1 --> deafness, Y-linked 1MONDO:0010892 mitochondrial myopathy and sideroblastic anemia --> obsolete mitochondrial myopathy and sideroblastic anemiaMONDO:0010918 EIG --> EIG1MONDO:0011099 Athabaskan brainstem dysgenesis syndrome --> human HOXA1 syndromesMONDO:0012234 LFS3 --> obsolete LFS3MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and Normal hands --> metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal handsMONDO:0012649 FTSD --> obsolete FTSDMONDO:0012765 LMPH1B --> lymphedema, hereditary, 1BMONDO:0013019 spondyloepimetaphyseal dysplasia, Pakistani type --> obsolete spondyloepimetaphyseal dysplasia, Pakistani typeMONDO:0013245 syndromic multisystem autoimmune disease due to Itch deficiency --> syndromic multisystem autoimmune disease due to ITCH deficiencyMONDO:0014631 hypomagnesemia, seizures, and mental retardation --> hypomagnesemia, seizures, and intellectual disabilityMONDO:0015118 rare pulmonary disease --> obsolete rare pulmonary diseaseMONDO:0018399 rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism --> obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadismMONDO:0018597 Plastic bronchitis --> plastic bronchitisMONDO:0018819 fibular aplasia-tibial campomelia-oligosyndactyly syndrome --> obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndromeMONDO:0019566 Klippel-Trenaunay syndrome --> obsolete Klippel-Trenaunay syndromeMONDO:0020700 microcephaly, short stature, and impaired glucose metabolism --> obsolete microcephaly, short stature, and impaired glucose metabolismMONDO:0021910 aplasia cutis myopia --> obsolete aplasia cutis myopiaMONDO:0021937 Asrar Facharzt Haque syndrome --> obsolete Asrar Facharzt Haque syndromeMONDO:0022406 aksu von stockhausen syndrome --> obsolete aksu von stockhausen syndromeMONDO:0022463 anophthalmia megalocornea cardiopathy skeletal anomalies --> obsolete anophthalmia megalocornea cardiopathy skeletal anomaliesMONDO:0022857 continuous muscle fiber activity hereditary --> obsolete continuous muscle fiber activity hereditaryMONDO:0023037 elongated styloid process syndrome --> obsolete elongated styloid process syndromeMONDO:0025397 distemper --> canine distemperMONDO:0025404 enteritis, transmissible, of turkeys --> coronaviral enteritis of turkeysMONDO:0029146 Saul-Wilson syndrome --> obsolete Saul-Wilson syndromeMONDO:0044716 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome --> obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeMONDO:0100116 middle east respiratory syndrome --> Middle East respiratory syndrome
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