| 3 beta-Hydroxysteroid dehydrogenase deficiency | 2 | Dec 19, 2024 |
| 3-Methylglutaconic aciduria type 3 | 1 | Apr 5, 2024 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 4 | Dec 19, 2024 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 3 | Apr 5, 2024 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2 | Apr 5, 2024 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 8 | Sep 2, 2024 |
| 3-methylglutaconic aciduria type 5 | 3 | Mar 29, 2024 |
| 3-methylglutaconic aciduria type 8 | 1 | Sep 12, 2021 |
| 3-methylglutaconic aciduria type 9 | 1 | Apr 5, 2024 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 4 | Dec 19, 2024 |
| 3M syndrome 1 | 4 | Apr 5, 2024 |
| 3M syndrome 2 | 4 | Mar 29, 2024 |
| 3M syndrome 3 | 3 | Mar 29, 2024 |
| 3MC syndrome 1 | 4 | Sep 22, 2024 |
| 3MC syndrome 3 | 1 | Mar 26, 2024 |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 2 | Dec 19, 2024 |
| 46,XY sex reversal 3 | 1 | Mar 26, 2024 |
| 46,XY sex reversal 5 | 2 | Mar 29, 2024 |
| 46,XY sex reversal 9 | 2 | Apr 5, 2024 |
| 5-Oxoprolinase deficiency | 2 | Apr 5, 2024 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 4 | Dec 19, 2024 |
| 8q24.3 microdeletion syndrome | 1 | Mar 25, 2024 |
| ACTH-independent macronodular adrenal hyperplasia 2 | 1 | Apr 5, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 | Sep 22, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Apr 5, 2024 |
| ALDH18A1-related de Barsy syndrome | 4 | Dec 18, 2024 |
| ALG1-congenital disorder of glycosylation | 2 | Dec 18, 2024 |
| ALG11-congenital disorder of glycosylation | 1 | Dec 18, 2024 |
| ALG12-congenital disorder of glycosylation | 1 | Sep 22, 2024 |
| ALG2-congenital disorder of glycosylation | 2 | Apr 5, 2024 |
| ALG3-congenital disorder of glycosylation | 3 | Sep 22, 2024 |
| ALG6-congenital disorder of glycosylation 1C | 1 | Mar 26, 2024 |
| ALG8 congenital disorder of glycosylation | 1 | Mar 25, 2024 |
| ALG9 congenital disorder of glycosylation | 2 | Mar 29, 2024 |
| AMED syndrome, digenic | 1 | Mar 29, 2024 |
| Aarskog syndrome | 1 | Apr 5, 2024 |
| Abdominal obesity-metabolic syndrome 3 | 3 | Dec 19, 2024 |
| Abetalipoproteinaemia | 3 | Mar 18, 2024 |
| Abnormal cardiovascular system morphology | 2 | Feb 11, 2016 |
| Abnormal corpus callosum morphology | 1 | Dec 30, 2014 |
| Abnormal facial shape | 9 | Jun 7, 2019 |
| Abnormal glycosylation | 1 | Dec 30, 2014 |
| Abnormality of the skeletal system | 1 | Dec 30, 2014 |
| Abnormality of the upper limb | 1 | Sep 12, 2021 |
| Absence of the sacrum | 1 | Dec 30, 2014 |
| Accelerated tumor formation, susceptibility to | 2 | Dec 18, 2024 |
| Achondrogenesis, type IA | 3 | Sep 12, 2021 |
| Achondroplasia | 11 | Dec 18, 2024 |
| Achromatopsia 2 | 4 | Apr 5, 2024 |
| Achromatopsia 3 | 2 | Dec 19, 2024 |
| Achromatopsia 4 | 1 | Mar 25, 2024 |
| Achromatopsia 7 | 3 | Mar 18, 2024 |
| Acquired polycythemia vera | 3 | Dec 18, 2024 |
| Acral peeling skin syndrome | 2 | Dec 19, 2024 |
| Acrocallosal syndrome | 4 | Sep 22, 2024 |
| Acrodermatitis continua suppurativa of Hallopeau | 1 | Dec 19, 2024 |
| Acromelic frontonasal dysostosis | 2 | Dec 19, 2024 |
| Acromesomelic dysplasia 4 | 1 | Dec 19, 2024 |
| Actin accumulation myopathy | 3 | Mar 29, 2024 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 1 | Sep 22, 2024 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 | May 8, 2023 |
| Acute intermittent porphyria | 6 | Sep 22, 2024 |
| Acute myeloid leukemia | 3 | Dec 19, 2024 |
| Acyl-CoA dehydrogenase 9 deficiency | 3 | Sep 22, 2024 |
| Acyl-CoA oxidase deficiency | 2 | May 8, 2023 |
| Adams-Oliver syndrome | 2 | Dec 30, 2014 |
| Adams-Oliver syndrome 1 | 1 | Mar 29, 2024 |
| Adams-Oliver syndrome 2 | 5 | Dec 19, 2024 |
| Adams-Oliver syndrome 4 | 1 | Apr 5, 2024 |
| Adams-Oliver syndrome 6 | 1 | Mar 26, 2024 |
| Addictive alcohol use | 1 | Dec 18, 2024 |
| Adenine phosphoribosyltransferase deficiency | 2 | Apr 5, 2024 |
| Adenylosuccinate lyase deficiency | 1 | Apr 5, 2024 |
| Adrenocortical carcinoma, hereditary | 7 | Dec 19, 2024 |
| Adrenoleukodystrophy | 18 | Sep 22, 2024 |
| Adult hypophosphatasia | 5 | Sep 22, 2024 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 2 | Dec 18, 2024 |
| Advance sleep phase syndrome, familial, 4 | 2 | Mar 29, 2024 |
| Advanced sleep phase syndrome 3 | 1 | Mar 26, 2024 |
| Agammaglobulinemia 4, autosomal recessive | 1 | Mar 29, 2024 |
| Agammaglobulinemia 7, autosomal recessive | 2 | Apr 5, 2024 |
| Agammaglobulinemia 9, autosomal recessive | 2 | Dec 18, 2024 |
| Age related macular degeneration 13 | 2 | Dec 19, 2024 |
| Age related macular degeneration 7 | 1 | Mar 16, 2024 |
| Aicardi-Goutieres syndrome 1 | 3 | Sep 22, 2024 |
| Aicardi-Goutieres syndrome 2 | 4 | Dec 4, 2024 |
| Aicardi-Goutieres syndrome 4 | 4 | Apr 5, 2024 |
| Al Kaissi syndrome | 2 | Dec 19, 2024 |
| Al-Raqad syndrome | 1 | Apr 5, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 10 | Sep 22, 2024 |
| Aland island eye disease | 1 | Dec 19, 2023 |
| Alazami-Yuan syndrome | 1 | Mar 18, 2024 |
| Alexander disease | 2 | Dec 19, 2024 |
| Alfadhel syndrome | 1 | Mar 25, 2024 |
| Alkaptonuria | 6 | Sep 22, 2024 |
| Alkuraya-Kucinskas syndrome | 8 | Dec 19, 2024 |
| Allan-Herndon-Dudley syndrome | 1 | Mar 26, 2024 |
| Alopecia-intellectual disability syndrome 1 | 1 | Sep 22, 2024 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 3 | Dec 18, 2024 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 2 | Mar 29, 2024 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 | Mar 18, 2024 |
| Alport syndrome 3b, autosomal recessive | 13 | Dec 19, 2024 |
| Alstrom syndrome | 10 | Apr 5, 2024 |
| Alternating hemiplegia of childhood 2 | 5 | Apr 5, 2024 |
| Alzahrani-Kuwahara syndrome | 2 | Dec 19, 2024 |
| Alzheimer disease 3 | 3 | Dec 19, 2024 |
| Alzheimer disease 9 | 1 | Apr 5, 2024 |
| Alzheimer disease type 1 | 2 | Dec 19, 2024 |
| Amegakaryocytic thrombocytopenia, congenital, 2 | 1 | Dec 19, 2024 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 2 | Mar 26, 2024 |
| Amelogenesis imperfecta type 1G | 1 | Mar 25, 2024 |
| Amelogenesis imperfecta type 1H | 1 | Sep 22, 2024 |
| Amelogenesis imperfecta type 2A1 | 1 | Mar 29, 2024 |
| Aminoacylase 1 deficiency | 1 | Dec 19, 2024 |
| Amyloidosis, hereditary systemic 1 | 2 | Jan 4, 2025 |
| Amyloidosis, primary localized cutaneous, 3 | 1 | Apr 5, 2024 |
| Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | 2 | Apr 5, 2024 |
| Amyotrophic lateral sclerosis type 10 | 1 | Mar 25, 2024 |
| Amyotrophic lateral sclerosis type 12 | 3 | Mar 29, 2024 |
| Amyotrophic lateral sclerosis type 19 | 1 | Dec 18, 2024 |
| Amyotrophic lateral sclerosis type 2, juvenile | 3 | Mar 16, 2024 |
| Amyotrophic lateral sclerosis type 23 | 1 | Dec 19, 2024 |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 1 | Mar 26, 2024 |
| Anauxetic dysplasia 2 | 1 | Apr 5, 2024 |
| Anauxetic dysplasia 3 | 1 | Mar 14, 2024 |
| Androgen resistance syndrome | 3 | Apr 5, 2024 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 14 | Dec 18, 2024 |
| Anemia, sideroblastic, 5 | 2 | Sep 22, 2024 |
| Angelman syndrome | 2 | Dec 19, 2024 |
| Angioedema, hereditary, 4 | 1 | Mar 29, 2024 |
| Angioedema, hereditary, 7 | 2 | Apr 5, 2024 |
| Aniridia 1 | 1 | Mar 25, 2024 |
| Anonychia | 2 | Apr 5, 2024 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Dec 18, 2024 |
| Anterior segment dysgenesis 7 | 5 | Sep 22, 2024 |
| Anterior segment dysgenesis 8 | 3 | Sep 22, 2024 |
| Aortic aneurysm, familial thoracic 6 | 3 | Apr 8, 2024 |
| Aortic aneurysm, familial thoracic 7 | 4 | Dec 18, 2024 |
| Aortic valve disease 1 | 6 | Dec 19, 2024 |
| Aortic valve disease 3 | 1 | Dec 19, 2024 |
| Apolipoprotein c-III deficiency | 1 | Mar 29, 2024 |
| Apparent mineralocorticoid excess | 1 | Mar 25, 2024 |
| Arginase deficiency | 1 | Mar 29, 2024 |
| Argininosuccinate lyase deficiency | 10 | Dec 19, 2024 |
| Aromatase deficiency | 1 | May 8, 2023 |
| Aromatase excess syndrome | 1 | Mar 26, 2024 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 6 | Dec 19, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 2 | Jun 8, 2024 |
| Arrhythmogenic right ventricular dysplasia 9 | 6 | Dec 19, 2024 |
| Arterial calcification, generalized, of infancy, 1 | 5 | Dec 18, 2024 |
| Arterial tortuosity syndrome | 3 | Mar 29, 2024 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 3 | Sep 22, 2024 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | Mar 18, 2024 |
| Arthrogryposis multiplex congenita 6 | 2 | Mar 22, 2024 |
| Arthrogryposis, distal, type 2B2 | 2 | Dec 19, 2024 |
| Arthrogryposis, distal, with impaired proprioception and touch | 6 | Dec 18, 2024 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 2 | Mar 25, 2024 |
| Asphyxiating thoracic dystrophy 1 | 1 | Oct 2, 2016 |
| Asphyxiating thoracic dystrophy 3 | 21 | Dec 19, 2024 |
| Asthma, nasal polyps, and aspirin intolerance | 1 | Mar 29, 2024 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 4 | Sep 22, 2024 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 4 | Dec 19, 2024 |
| Ataxia-pancytopenia syndrome | 7 | Dec 4, 2024 |
| Ataxia-telangiectasia syndrome | 13 | Dec 19, 2024 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Mar 18, 2024 |
| Ateleiotic dwarfism | 7 | Mar 29, 2024 |
| Athabaskan severe combined immunodeficiency | 2 | Mar 16, 2024 |
| Atrial fibrillation, familial, 15 | 1 | Sep 22, 2024 |
| Atrial fibrillation, familial, 7 | 2 | Sep 22, 2024 |
| Atrial septal defect 3 | 10 | Dec 19, 2024 |
| Atrial septal defect 6 | 2 | Mar 25, 2024 |
| Atrial septal defect 8 | 1 | Mar 25, 2024 |
| Atrichia with papular lesions | 3 | Dec 19, 2024 |
| Attention deficit hyperactivity disorder | 3 | Aug 27, 2016 |
| Atypical glycine encephalopathy | 1 | Apr 5, 2024 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 1 | Jul 7, 2021 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 2 | Apr 5, 2024 |
| Au-Kline syndrome | 2 | Mar 25, 2024 |
| Aural atresia, congenital | 1 | Mar 29, 2024 |
| Autism spectrum disorder due to AUTS2 deficiency | 1 | Mar 25, 2024 |
| Autism, susceptibility to, 15 | 4 | Apr 5, 2024 |
| Autism, susceptibility to, 5 | 2 | Apr 5, 2024 |
| Autism, susceptibility to, X-linked 2 | 1 | Sep 22, 2024 |
| Autistic spectrum disorder with isolated skills | 1 | Dec 30, 2014 |
| Autoimmune disease, susceptibility to, 6 | 1 | Sep 22, 2024 |
| Autoimmune interstitial lung disease-arthritis syndrome | 3 | Oct 15, 2024 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 4 | Dec 18, 2024 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Mar 25, 2024 |
| Autoimmune lymphoproliferative syndrome type 2A | 1 | Sep 22, 2024 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 2 | Dec 18, 2024 |
| Autoimmune thyroid disease, susceptibility to, 3 | 1 | Mar 18, 2024 |
| Autoinflammation with episodic fever and lymphadenopathy | 3 | Dec 19, 2024 |
| Autoinflammation, immune dysregulation, and eosinophilia | 1 | Mar 29, 2024 |
| Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | 1 | Sep 22, 2024 |
| Autoinflammatory disease, systemic, with vasculitis | 1 | Mar 29, 2024 |
| Autoinflammatory syndrome with immunodeficiency | 3 | Dec 19, 2024 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 2 | Mar 25, 2024 |
| Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | 1 | Dec 19, 2024 |
| Autosomal dominant Parkinson disease 1 | 1 | Apr 5, 2024 |
| Autosomal dominant Parkinson disease 8 | 7 | Dec 19, 2024 |
| Autosomal dominant Robinow syndrome 2 | 1 | Dec 19, 2024 |
| Autosomal dominant Robinow syndrome 3 | 2 | Dec 19, 2024 |
| Autosomal dominant aplasia and myelodysplasia | 1 | Dec 18, 2024 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 2 | Apr 5, 2024 |
| Autosomal dominant deafness - onychodystrophy syndrome | 1 | Mar 16, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2 | Dec 18, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 | Sep 22, 2024 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Mar 14, 2024 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Mar 14, 2024 |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Sep 22, 2024 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Mar 25, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 2 | Dec 17, 2024 |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 | Mar 18, 2024 |
| Autosomal dominant nonsyndromic hearing loss 4A | 2 | Dec 19, 2024 |
| Autosomal dominant nonsyndromic hearing loss 9 | 2 | Dec 19, 2024 |
| Autosomal dominant optic atrophy classic form | 4 | Mar 18, 2024 |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 | May 2, 2024 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Apr 5, 2024 |
| Autosomal dominant wooly hair | 1 | Mar 25, 2024 |
| Autosomal recessive Alport syndrome | 14 | Dec 19, 2024 |
| Autosomal recessive DOPA responsive dystonia | 2 | Sep 22, 2024 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 4 | Apr 5, 2024 |
| Autosomal recessive ataxia, Beauce type | 8 | Apr 5, 2024 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 3 | Dec 19, 2024 |
| Autosomal recessive congenital ichthyosis | 1 | Sep 12, 2021 |
| Autosomal recessive congenital ichthyosis 1 | 4 | Dec 19, 2024 |
| Autosomal recessive congenital ichthyosis 2 | 1 | Dec 19, 2024 |
| Autosomal recessive congenital ichthyosis 3 | 1 | Dec 19, 2024 |
| Autosomal recessive congenital ichthyosis 4B | 3 | Sep 22, 2024 |
| Autosomal recessive congenital ichthyosis 5 | 2 | Sep 22, 2024 |
| Autosomal recessive cutis laxa type 2C | 1 | Mar 18, 2024 |
| Autosomal recessive distal spinal muscular atrophy 1 | 4 | Dec 19, 2024 |
| Autosomal recessive early-onset Parkinson disease 23 | 7 | Dec 19, 2024 |
| Autosomal recessive early-onset Parkinson disease 6 | 6 | Sep 22, 2024 |
| Autosomal recessive early-onset Parkinson disease 7 | 1 | Mar 26, 2024 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 15 | Dec 19, 2024 |
| Autosomal recessive juvenile Parkinson disease 2 | 4 | Dec 18, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 7 | Sep 22, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 6 | Sep 22, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | Mar 26, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 | Jan 4, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 | Mar 29, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 | Mar 18, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 | Dec 18, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Mar 18, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 1 | Mar 25, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 2 | Mar 26, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 1 | Mar 14, 2024 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Apr 5, 2024 |
| Autosomal recessive multiple pterygium syndrome | 4 | Dec 18, 2024 |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 | Mar 26, 2024 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Mar 29, 2024 |
| Autosomal recessive nonsyndromic hearing loss 18B | 1 | Mar 25, 2024 |
| Autosomal recessive nonsyndromic hearing loss 1A | 5 | Apr 5, 2024 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Dec 19, 2024 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Mar 29, 2024 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Feb 13, 2024 |
| Autosomal recessive nonsyndromic hearing loss 24 | 2 | Sep 22, 2024 |
| Autosomal recessive nonsyndromic hearing loss 25 | 1 | Dec 18, 2024 |
| Autosomal recessive nonsyndromic hearing loss 28 | 3 | Dec 19, 2024 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | Mar 26, 2024 |
| Autosomal recessive nonsyndromic hearing loss 3 | 6 | Dec 19, 2024 |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 | Sep 22, 2024 |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 | Mar 26, 2024 |
| Autosomal recessive nonsyndromic hearing loss 4 | 12 | Dec 18, 2024 |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 | Mar 29, 2024 |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 | Dec 19, 2024 |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 | Dec 18, 2024 |
| Autosomal recessive nonsyndromic hearing loss 67 | 1 | Mar 25, 2024 |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 | Dec 19, 2024 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Mar 29, 2024 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Apr 5, 2024 |
| Autosomal recessive nonsyndromic hearing loss 84B | 3 | Mar 29, 2024 |
| Autosomal recessive nonsyndromic hearing loss 9 | 7 | Dec 18, 2024 |
| Autosomal recessive nonsyndromic hearing loss 91 | 1 | Mar 26, 2024 |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 | Mar 26, 2024 |
| Autosomal recessive omodysplasia | 2 | Mar 29, 2024 |
| Autosomal recessive osteopetrosis 1 | 3 | Jan 4, 2025 |
| Autosomal recessive osteopetrosis 4 | 6 | Sep 22, 2024 |
| Autosomal recessive osteopetrosis 5 | 1 | May 8, 2023 |
| Autosomal recessive polycystic kidney disease | 7 | Jul 7, 2021 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2 | Dec 19, 2024 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 3 | Sep 22, 2024 |
| Autosomal recessive spastic paraplegia type 76 | 2 | Apr 5, 2024 |
| Autosomal recessive spinocerebellar ataxia 13 | 3 | Sep 22, 2024 |
| Autosomal recessive spinocerebellar ataxia 15 | 2 | Apr 5, 2024 |
| Autosomal recessive spinocerebellar ataxia 18 | 1 | Oct 15, 2024 |
| Autosomal recessive spinocerebellar ataxia 2 | 1 | Mar 26, 2024 |
| Autosomal recessive spinocerebellar ataxia 20 | 2 | Dec 18, 2024 |
| Avellino corneal dystrophy | 1 | Sep 22, 2024 |
| Axenfeld-Rieger syndrome type 3 | 1 | Sep 22, 2024 |
| Axial hypotonia | 1 | Dec 30, 2014 |
| Axial spondylometaphyseal dysplasia | 2 | Mar 29, 2024 |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 2 | Apr 5, 2024 |
| BDV syndrome | 1 | Mar 29, 2024 |
| BNAR syndrome | 1 | Mar 11, 2024 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Apr 5, 2024 |
| Bailey-Bloch congenital myopathy | 1 | Mar 18, 2024 |
| Band heterotopia of brain | 2 | Mar 18, 2024 |
| Baralle-Macken syndrome | 1 | Mar 16, 2024 |
| Bardet-Biedl syndrome | 13 | Oct 2, 2016 |
| Bardet-Biedl syndrome 1 | 5 | Mar 25, 2024 |
| Bardet-Biedl syndrome 10 | 1 | Mar 29, 2024 |
| Bardet-Biedl syndrome 12 | 2 | Dec 19, 2024 |
| Bardet-Biedl syndrome 15 | 1 | Dec 13, 2019 |
| Bardet-Biedl syndrome 16 | 3 | Mar 29, 2024 |
| Bardet-Biedl syndrome 17 | 1 | Mar 18, 2024 |
| Bardet-Biedl syndrome 18 | 3 | Mar 29, 2024 |
| Bardet-Biedl syndrome 2 | 5 | Sep 22, 2024 |
| Bardet-Biedl syndrome 22 | 1 | Dec 19, 2024 |
| Bardet-Biedl syndrome 4 | 1 | Mar 19, 2024 |
| Bardet-Biedl syndrome 5 | 6 | Dec 19, 2024 |
| Bardet-Biedl syndrome 7 | 4 | Mar 26, 2024 |
| Bardet-Biedl syndrome 8 | 3 | Mar 29, 2024 |
| Bardet-Biedl syndrome 9 | 7 | Dec 17, 2024 |
| Bartter disease type 1 | 3 | Mar 26, 2024 |
| Bartter disease type 2 | 4 | Dec 19, 2024 |
| Bartter disease type 3 | 4 | Dec 19, 2024 |
| Bartter disease type 4A | 1 | Mar 29, 2024 |
| Basal cell nevus syndrome 1 | 1 | Dec 19, 2024 |
| Basal ganglia calcification, idiopathic, 6 | 1 | Mar 29, 2024 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 2 | Mar 29, 2024 |
| Basan syndrome | 1 | Apr 5, 2024 |
| Beck-Fahrner syndrome | 4 | Dec 18, 2024 |
| Beckwith-Wiedemann syndrome | 2 | Mar 29, 2024 |
| Benign paroxysmal tonic upgaze of childhood with ataxia | 1 | Dec 18, 2024 |
| Benign recurrent intrahepatic cholestasis type 1 | 1 | May 8, 2023 |
| Bernard Soulier syndrome | 2 | Mar 29, 2024 |
| Beta-D-mannosidosis | 3 | Mar 25, 2024 |
| Beta-aminoisobutyric acid, urinary excretion of | 1 | Apr 5, 2024 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 | Mar 18, 2024 |
| Bethlem myopathy 1C | 6 | Dec 18, 2024 |
| Bethlem myopathy 2 | 6 | Dec 19, 2024 |
| Bietti crystalline corneoretinal dystrophy | 2 | Mar 29, 2024 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Sep 12, 2021 |
| Bilateral frontoparietal polymicrogyria | 4 | Dec 19, 2024 |
| Bilateral squint | 1 | Dec 30, 2014 |
| Bilateral undescended testicles | 1 | Dec 30, 2014 |
| Bile acid conjugation defect 1 | 2 | Mar 18, 2024 |
| Bile acid malabsorption, primary, 1 | 3 | Mar 25, 2024 |
| Biliary, renal, neurologic, and skeletal syndrome | 2 | Mar 18, 2024 |
| Biotin-responsive basal ganglia disease | 3 | Mar 29, 2024 |
| Biotinidase deficiency | 12 | Dec 18, 2024 |
| Birbeck granule deficiency | 1 | Apr 5, 2024 |
| Birk-Barel syndrome | 1 | Mar 18, 2024 |
| Birt-Hogg-Dube syndrome 1 | 2 | Apr 5, 2024 |
| Bleeding disorder, platelet-type, 21 | 1 | Dec 18, 2024 |
| Bleeding disorder, platelet-type, 22 | 2 | Dec 18, 2024 |
| Blepharophimosis | 1 | Sep 12, 2021 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2 | Apr 5, 2024 |
| Blindness | 1 | Dec 30, 2014 |
| Blistering, acantholytic, of oral and laryngeal mucosa | 1 | Mar 29, 2024 |
| Bloom syndrome | 3 | Dec 18, 2024 |
| Body mass index quantitative trait locus 14 | 1 | Mar 29, 2024 |
| Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 2 | Dec 19, 2024 |
| Bohring-Opitz syndrome | 2 | Dec 18, 2024 |
| Bombay phenotype | 1 | Mar 26, 2024 |
| Bone fragility with contractures, arterial rupture, and deafness | 2 | Mar 26, 2024 |
| Bone marrow failure and diabetes mellitus syndrome | 1 | Apr 5, 2024 |
| Bone marrow failure syndrome 3 | 2 | Oct 15, 2024 |
| Bone marrow failure syndrome 4 | 2 | May 8, 2023 |
| Bothnia retinal dystrophy | 3 | Mar 29, 2024 |
| Brachydactyly type A1A | 2 | Mar 29, 2024 |
| Brachydactyly-arterial hypertension syndrome | 2 | Dec 19, 2024 |
| Brachyolmia-amelogenesis imperfecta syndrome | 1 | Dec 19, 2024 |
| Braddock-carey syndrome 2 | 1 | Mar 29, 2024 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 4 | Dec 19, 2024 |
| Brain atrophy | 5 | Dec 30, 2014 |
| Brain dopamine-serotonin vesicular transport disease | 2 | Mar 26, 2024 |
| Brain iron accummulation | 1 | Dec 30, 2014 |
| Brain malformation | 1 | Dec 30, 2014 |
| Brain malformations with or without urinary tract defects | 2 | Dec 18, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 5 | Dec 19, 2024 |
| Brain small vessel disease 3 | 1 | Dec 13, 2019 |
| Brainstem dysplasia | 2 | Feb 11, 2016 |
| Branchiooculofacial syndrome | 2 | Apr 5, 2024 |
| Branchiootic syndrome 3 | 1 | Apr 5, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 8 | Dec 18, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 6 | Dec 17, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 2 | Mar 29, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 | Sep 22, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 3 | Dec 17, 2024 |
| Brittle cornea syndrome 1 | 2 | Oct 15, 2024 |
| Brittle cornea syndrome 2 | 2 | Mar 26, 2024 |
| Brody myopathy | 1 | Dec 18, 2024 |
| Bronchiectasis with or without elevated sweat chloride 2 | 3 | Dec 19, 2024 |
| Brown-Vialetto-van Laere syndrome 1 | 1 | May 8, 2023 |
| Bruck syndrome 2 | 2 | Mar 29, 2024 |
| Brugada syndrome 1 | 14 | Dec 19, 2024 |
| Brugada syndrome 4 | 2 | Apr 5, 2024 |
| Brunet-Wagner neurodevelopmental syndrome | 1 | Mar 26, 2024 |
| Buratti-Harel syndrome | 1 | Mar 26, 2024 |
| C syndrome | 1 | Mar 26, 2024 |
| C1Q deficiency 1 | 1 | Mar 14, 2024 |
| C3 glomerulonephritis | 1 | Dec 18, 2024 |
| CARASIL syndrome | 3 | Dec 18, 2024 |
| CBL-related disorder | 3 | Sep 22, 2024 |
| CEBALID syndrome | 2 | Apr 5, 2024 |
| CFHR5 deficiency | 1 | Mar 26, 2024 |
| CHARGE syndrome | 5 | Jul 1, 2024 |
| CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 13 | 1 | Dec 19, 2024 |
| CLOVES syndrome | 1 | Mar 26, 2024 |
| CNS hypomyelination | 1 | Dec 30, 2014 |
| COACH syndrome 1 | 3 | Mar 29, 2024 |
| CODAS syndrome | 4 | Dec 18, 2024 |
| COG6-congenital disorder of glycosylation | 2 | Mar 29, 2024 |
| COG8-congenital disorder of glycosylation | 1 | Mar 29, 2024 |
| Calvarial doughnut lesions-bone fragility syndrome | 1 | Mar 25, 2024 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 3 | Sep 22, 2024 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | May 8, 2023 |
| Candidiasis, familial, 9 | 2 | Dec 19, 2024 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Apr 5, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 2 | Mar 29, 2024 |
| Carcinoma of pancreas | 1 | Mar 29, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Mar 26, 2024 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Apr 5, 2024 |
| Cardiac valvular defect, developmental | 1 | Apr 5, 2024 |
| Cardiac valvular dysplasia 2 | 1 | Mar 29, 2024 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Mar 26, 2024 |
| Cardiac-urogenital syndrome | 3 | Sep 22, 2024 |
| Cardio-facio-cutaneous syndrome | 2 | Mar 16, 2024 |
| Cardioacrofacial dysplasia 1 | 1 | Mar 26, 2024 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 | Apr 5, 2024 |
| Cardiofaciocutaneous syndrome 1 | 6 | Dec 19, 2024 |
| Cardiofaciocutaneous syndrome 4 | 1 | Apr 5, 2024 |
| Cardiomyopathy, dilated, 2D | 2 | Dec 19, 2024 |
| Cardiomyopathy, dilated, 2E | 2 | Apr 5, 2024 |
| Cardiomyopathy, dilated, 2G | 1 | Mar 29, 2024 |
| Cardiomyopathy, familial hypertrophic 27 | 2 | Mar 26, 2024 |
| Cardiomyopathy, familial hypertrophic, 28 | 2 | Sep 22, 2024 |
| Cardiospondylocarpofacial syndrome | 3 | Dec 19, 2024 |
| Carnitine acylcarnitine translocase deficiency | 1 | Apr 5, 2024 |
| Carnitine palmitoyl transferase 1A deficiency | 2 | Mar 26, 2024 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 4 | Apr 5, 2024 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 | Dec 13, 2019 |
| Caroli disease | 1 | Dec 13, 2019 |
| Cataract 1 multiple types | 3 | Mar 18, 2024 |
| Cataract 10 multiple types | 1 | Apr 5, 2024 |
| Cataract 12 multiple types | 2 | Mar 26, 2024 |
| Cataract 13 with adult I phenotype | 2 | Mar 18, 2024 |
| Cataract 14 multiple types | 1 | Mar 25, 2024 |
| Cataract 17 multiple types | 2 | Mar 26, 2024 |
| Cataract 22 multiple types | 2 | Dec 19, 2024 |
| Cataract 3 multiple types | 1 | May 8, 2023 |
| Cataract 38 | 1 | Mar 18, 2024 |
| Cataract 4 multiple types | 1 | Apr 5, 2024 |
| Cataract 44 | 2 | Dec 19, 2024 |
| Cataract 6 multiple types | 2 | Apr 5, 2024 |
| Cataract 9 multiple types | 1 | Dec 19, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 | Mar 26, 2024 |
| Catel-Manzke syndrome | 1 | Mar 26, 2024 |
| Catifa syndrome | 1 | Mar 16, 2024 |
| Celiac disease, susceptibility to, 4 | 1 | Mar 26, 2024 |
| Central core myopathy | 25 | Dec 19, 2024 |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 1 | Mar 26, 2024 |
| Cerebellar ataxia | 5 | Dec 30, 2014 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 1 | Apr 5, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 1 | Dec 18, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 11 | Sep 22, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 5 | Mar 29, 2024 |
| Cerebellar atrophy | 4 | Dec 30, 2014 |
| Cerebellar atrophy with seizures and variable developmental delay | 3 | Apr 5, 2024 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 1 | Mar 26, 2024 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 6 | Dec 19, 2024 |
| Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | 1 | Apr 5, 2024 |
| Cerebellar vermis hypoplasia | 1 | Dec 30, 2014 |
| Cerebellar, ocular, craniofacial, and genital syndrome | 1 | Dec 18, 2024 |
| Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) | 1 | Dec 30, 2014 |
| Cerebral amyloid angiopathy, APP-related | 1 | Dec 19, 2024 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 12 | Dec 19, 2024 |
| Cerebral calcification | 1 | Dec 30, 2014 |
| Cerebral cavernous malformation | 2 | Mar 25, 2024 |
| Cerebral ischemia | 1 | Dec 30, 2014 |
| Cerebral palsy, spastic quadriplegic, 2 | 3 | Apr 5, 2024 |
| Cerebrooculofacioskeletal syndrome 2 | 1 | Sep 12, 2021 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 | Mar 29, 2024 |
| Cernunnos-XLF deficiency | 1 | Dec 17, 2024 |
| Ceroid lipofuscinosis, neuronal, 6A | 4 | Apr 5, 2024 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 5 | Dec 18, 2024 |
| Char syndrome | 1 | Mar 26, 2024 |
| Charcot-Marie-Tooth Disease, axonal, type 2GG | 2 | Dec 19, 2024 |
| Charcot-Marie-Tooth disease | 1 | Dec 30, 2014 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Sep 22, 2024 |
| Charcot-Marie-Tooth disease axonal type 2C | 3 | Apr 5, 2024 |
| Charcot-Marie-Tooth disease axonal type 2F | 2 | Dec 18, 2024 |
| Charcot-Marie-Tooth disease axonal type 2K | 3 | Mar 26, 2024 |
| Charcot-Marie-Tooth disease axonal type 2P | 1 | Mar 29, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Q | 3 | Mar 29, 2024 |
| Charcot-Marie-Tooth disease axonal type 2T | 2 | Apr 5, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate E | 3 | Dec 18, 2024 |
| Charcot-Marie-Tooth disease recessive intermediate C | 2 | Apr 5, 2024 |
| Charcot-Marie-Tooth disease type 1B | 1 | Mar 18, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Mar 25, 2024 |
| Charcot-Marie-Tooth disease type 2B2 | 1 | Mar 26, 2024 |
| Charcot-Marie-Tooth disease type 4B1 | 1 | Sep 22, 2024 |
| Charcot-Marie-Tooth disease type 4B2 | 3 | Dec 19, 2024 |
| Charcot-Marie-Tooth disease type 4C | 4 | Mar 26, 2024 |
| Charcot-Marie-Tooth disease type 4D | 1 | Sep 22, 2024 |
| Charcot-Marie-Tooth disease type 4E | 1 | Dec 19, 2024 |
| Charcot-Marie-Tooth disease type 4F | 3 | Sep 22, 2024 |
| Charcot-Marie-Tooth disease type 4H | 2 | Dec 18, 2024 |
| Charcot-Marie-Tooth disease type 4J | 4 | Mar 29, 2024 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | Mar 29, 2024 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1H | 1 | Mar 26, 2024 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 1 | Apr 5, 2024 |
| Charcot-Marie-Tooth disease, type IA | 1 | Mar 29, 2024 |
| Charlevoix-Saguenay spastic ataxia | 6 | Sep 22, 2024 |
| Child syndrome | 1 | Sep 22, 2024 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Oct 15, 2024 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Mar 26, 2024 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 | Mar 25, 2024 |
| Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 1 | Dec 18, 2024 |
| Cholestanol storage disease | 1 | Mar 29, 2024 |
| Cholestasis, intrahepatic, of pregnancy, 1 | 11 | Sep 22, 2024 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 19 | Dec 18, 2024 |
| Cholestasis, progressive familial intrahepatic, 5 | 1 | Mar 25, 2024 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 5 | Dec 18, 2024 |
| Cholestasis, progressive familial intrahepatic, 8 | 6 | Mar 25, 2024 |
| Cholestasis, progressive familial intrahepatic, 9 | 2 | Mar 25, 2024 |
| Cholesteryl ester storage disease | 2 | Mar 26, 2024 |
| Chondrocalcinosis 2 | 1 | Dec 18, 2024 |
| Chondrodysplasia with joint dislocations, gPAPP type | 3 | Apr 5, 2024 |
| Chopra-Amiel-Gordon syndrome | 4 | Dec 19, 2024 |
| Chorea-acanthocytosis | 1 | Apr 5, 2024 |
| Choroidal dystrophy, central areolar 2 | 2 | Dec 19, 2024 |
| Christianson syndrome | 2 | Sep 22, 2024 |
| Chromosome 2p16.3 deletion syndrome | 1 | Apr 5, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 5 | Oct 15, 2024 |
| Chronic kidney disease | 1 | Dec 30, 2014 |
| Chronic lung disease | 1 | Dec 30, 2014 |
| Chudley-McCullough syndrome | 2 | Dec 17, 2024 |
| Chuvash polycythemia | 9 | Dec 18, 2024 |
| Chylomicron retention disease | 1 | Apr 5, 2024 |
| Chédiak-Higashi syndrome | 5 | Dec 18, 2024 |
| Ciliary dyskinesia, primary, 38 | 1 | Apr 5, 2024 |
| Ciliary dyskinesia, primary, 39 | 1 | Mar 25, 2024 |
| Ciliary dyskinesia, primary, 40 | 6 | Dec 17, 2024 |
| Ciliary dyskinesia, primary, 43 | 1 | Mar 29, 2024 |
| Ciliary dyskinesia, primary, 44 | 3 | Sep 22, 2024 |
| Ciliary dyskinesia, primary, 45 | 1 | Mar 26, 2024 |
| Ciliary dyskinesia, primary, 47, and lissencephaly | 2 | Sep 22, 2024 |
| Ciliary dyskinesia, primary, 48, without situs inversus | 1 | Mar 29, 2024 |
| Ciliary dyskinesia, primary, 50 | 6 | Apr 5, 2024 |
| Ciliary dyskinesia, primary, 52 | 1 | Mar 26, 2024 |
| Ciliopathy | 1 | Oct 2, 2016 |
| Citrullinemia type I | 5 | Sep 22, 2024 |
| Citrullinemia, type II, adult-onset | 4 | Apr 5, 2024 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 29 | Dec 19, 2024 |
| Classic dopamine transporter deficiency syndrome | 2 | Sep 22, 2024 |
| Classic homocystinuria | 6 | Dec 19, 2024 |
| Classical primary microcephaly | 1 | Dec 30, 2014 |
| Cleft lip/palate-ectodermal dysplasia syndrome | 2 | Sep 22, 2024 |
| Cleft palate with or without ankyloglossia, X-linked | 2 | Mar 26, 2024 |
| Coarse facial features | 1 | Dec 30, 2014 |
| Cobalamin C disease | 8 | Dec 19, 2024 |
| Cobblestone lissencephaly without muscular or ocular involvement | 2 | Mar 26, 2024 |
| Cockayne syndrome type 1 | 1 | Mar 26, 2024 |
| Cockayne syndrome type 2 | 3 | Dec 18, 2024 |
| Coffin-Lowry syndrome | 2 | Mar 25, 2024 |
| Coffin-Siris syndrome 1 | 6 | Dec 19, 2024 |
| Coffin-Siris syndrome 10 | 1 | Mar 29, 2024 |
| Coffin-Siris syndrome 6 | 3 | Apr 5, 2024 |
| Coffin-Siris syndrome 8 | 1 | Apr 5, 2024 |
| Cohen syndrome | 10 | Jan 4, 2025 |
| Cold-induced sweating syndrome 1 | 3 | Sep 22, 2024 |
| Coloboma of optic nerve | 2 | Dec 19, 2023 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 1 | Mar 18, 2024 |
| Colorectal cancer | 1 | Mar 29, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 5 | Sep 22, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 1 | Mar 26, 2024 |
| Colorectal cancer, susceptibility to, 12 | 5 | Dec 19, 2024 |
| Combined deficiency of sialidase AND beta galactosidase | 4 | Mar 26, 2024 |
| Combined immunodeficiency due to CD3gamma deficiency | 1 | Mar 26, 2024 |
| Combined immunodeficiency due to DOCK8 deficiency | 5 | Dec 18, 2024 |
| Combined immunodeficiency due to LRBA deficiency | 12 | Sep 22, 2024 |
| Combined immunodeficiency due to MALT1 deficiency | 2 | Mar 26, 2024 |
| Combined immunodeficiency due to OX40 deficiency | 1 | Mar 29, 2024 |
| Combined immunodeficiency due to STIM1 deficiency | 2 | Apr 5, 2024 |
| Combined immunodeficiency due to ZAP70 deficiency | 1 | May 8, 2023 |
| Combined immunodeficiency due to moesin deficiency | 1 | Sep 12, 2021 |
| Combined malonic and methylmalonic acidemia | 1 | Apr 5, 2024 |
| Combined oxidative phosphorylation defect type 11 | 2 | Dec 19, 2024 |
| Combined oxidative phosphorylation defect type 13 | 3 | Apr 5, 2024 |
| Combined oxidative phosphorylation defect type 14 | 1 | Mar 16, 2024 |
| Combined oxidative phosphorylation defect type 15 | 1 | Mar 29, 2024 |
| Combined oxidative phosphorylation defect type 2 | 1 | Sep 22, 2024 |
| Combined oxidative phosphorylation defect type 23 | 2 | Mar 29, 2024 |
| Combined oxidative phosphorylation defect type 24 | 1 | Dec 19, 2024 |
| Combined oxidative phosphorylation defect type 7 | 2 | Dec 19, 2024 |
| Combined oxidative phosphorylation defect type 9 | 1 | Apr 5, 2024 |
| Combined oxidative phosphorylation deficiency 28 | 1 | Mar 25, 2024 |
| Combined oxidative phosphorylation deficiency 38 | 1 | Oct 15, 2024 |
| Combined oxidative phosphorylation deficiency 40 | 2 | Mar 25, 2024 |
| Combined oxidative phosphorylation deficiency 51 | 1 | Mar 26, 2024 |
| Combined oxidative phosphorylation deficiency 54 | 2 | Mar 29, 2024 |
| Combined oxidative phosphorylation deficiency 55 | 2 | Sep 22, 2024 |
| Complement component 2 deficiency | 2 | Dec 19, 2024 |
| Complement component 3 deficiency | 1 | Mar 25, 2024 |
| Complement component 5 deficiency | 2 | Dec 18, 2024 |
| Complement component 6 deficiency | 5 | Sep 22, 2024 |
| Complement component 7 deficiency | 1 | Mar 29, 2024 |
| Complement component 9 deficiency | 2 | Sep 22, 2024 |
| Complex cortical dysplasia with other brain malformations 2 | 2 | Dec 19, 2024 |
| Complex cortical dysplasia with other brain malformations 3 | 1 | Apr 5, 2024 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | Dec 19, 2024 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Apr 5, 2024 |
| Complex lethal osteochondrodysplasia | 4 | Sep 22, 2024 |
| Cone dystrophy 4 | 2 | Dec 19, 2024 |
| Cone dystrophy with supernormal rod response | 2 | Mar 23, 2024 |
| Cone-rod dystrophy 24 | 1 | Apr 5, 2024 |
| Cone-rod synaptic disorder syndrome, congenital nonprogressive | 1 | Dec 19, 2024 |
| Cone-rod synaptic disorder, congenital nonprogressive | 1 | Mar 29, 2024 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 | Mar 25, 2024 |
| Congenital adrenal hypoplasia, X-linked | 2 | May 2, 2024 |
| Congenital afibrinogenemia | 16 | May 13, 2021 |
| Congenital amegakaryocytic thrombocytopenia 1 | 1 | Apr 5, 2024 |
| Congenital anomalies of kidney and urinary tract 1 | 1 | Mar 29, 2024 |
| Congenital anomalies of kidney and urinary tract 2 | 3 | Dec 19, 2024 |
| Congenital anomalies of kidney and urinary tract 3 | 2 | Dec 19, 2024 |
| Congenital bile acid synthesis defect 1 | 3 | Apr 5, 2024 |
| Congenital bile acid synthesis defect 2 | 4 | Mar 29, 2024 |
| Congenital cerebellar hypoplasia | 3 | Apr 5, 2024 |
| Congenital contractural arachnodactyly | 3 | Apr 5, 2024 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 4 | Apr 5, 2024 |
| Congenital diarrhea 5 with tufting enteropathy | 3 | Mar 29, 2024 |
| Congenital diarrhea 7 with exudative enteropathy | 3 | Sep 22, 2024 |
| Congenital disorder of deglycosylation 1 | 1 | Apr 5, 2024 |
| Congenital disorder of deglycosylation 2 | 2 | Mar 29, 2024 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 4 | Dec 18, 2024 |
| Congenital disorder of glycosylation, type IAA | 1 | Dec 18, 2024 |
| Congenital disorder of glycosylation, type IIq | 1 | Dec 18, 2024 |
| Congenital disorder of glycosylation, type IIw | 4 | Dec 19, 2024 |
| Congenital dyserythropoietic anemia type type 1B | 1 | Mar 26, 2024 |
| Congenital dyserythropoietic anemia, type II | 2 | Mar 29, 2024 |
| Congenital dyserythropoietic anemia, type III | 1 | Mar 29, 2024 |
| Congenital factor VII deficiency | 6 | Apr 5, 2024 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Dec 19, 2023 |
| Congenital generalized lipodystrophy type 1 | 1 | Mar 26, 2024 |
| Congenital generalized lipodystrophy type 2 | 1 | Apr 5, 2024 |
| Congenital glucose-galactose malabsorption | 2 | Mar 26, 2024 |
| Congenital heart defects and ectodermal dysplasia | 2 | Dec 19, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | Dec 19, 2024 |
| Congenital heart defects, multiple types, 2 | 1 | Mar 25, 2024 |
| Congenital heart defects, multiple types, 4 | 1 | Mar 16, 2024 |
| Congenital heart defects, multiple types, 5 | 1 | Mar 29, 2024 |
| Congenital heart defects, multiple types, 9 | 1 | Mar 29, 2024 |
| Congenital hereditary endothelial dystrophy of cornea | 3 | Dec 18, 2024 |
| Congenital hyperammonemia, type I | 10 | Dec 18, 2024 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 5 | Dec 19, 2024 |
| Congenital hypotrichosis with juvenile macular dystrophy | 1 | Dec 18, 2024 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 1 | Mar 29, 2024 |
| Congenital isolated adrenocorticotropic hormone deficiency | 4 | May 2, 2024 |
| Congenital lactic acidosis | 1 | Sep 12, 2021 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Mar 29, 2024 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 | Apr 5, 2024 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 5 | Dec 17, 2024 |
| Congenital microvillous atrophy | 6 | Apr 5, 2024 |
| Congenital muscular dystrophy | 3 | Mar 16, 2024 |
| Congenital muscular dystrophy due to LMNA mutation | 12 | Dec 19, 2024 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 | Apr 5, 2024 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 1 | Dec 17, 2024 |
| Congenital myasthenic syndrome 11 | 1 | Mar 29, 2024 |
| Congenital myasthenic syndrome 12 | 1 | Sep 12, 2021 |
| Congenital myasthenic syndrome 19 | 1 | Mar 26, 2024 |
| Congenital myasthenic syndrome 1A | 3 | Dec 18, 2024 |
| Congenital myasthenic syndrome 21 | 1 | Mar 29, 2024 |
| Congenital myasthenic syndrome 2A | 1 | Mar 29, 2024 |
| Congenital myasthenic syndrome 5 | 3 | Sep 22, 2024 |
| Congenital myasthenic syndrome 7 | 2 | Mar 29, 2024 |
| Congenital myasthenic syndrome 8 | 2 | Sep 22, 2024 |
| Congenital myopathy 10b, mild variant | 1 | Mar 29, 2024 |
| Congenital myopathy 18 | 4 | Sep 22, 2024 |
| Congenital myopathy 20 | 4 | Dec 19, 2024 |
| Congenital myopathy 23 | 1 | Dec 19, 2024 |
| Congenital myopathy 2c, severe infantile, autosomal dominant | 1 | May 8, 2023 |
| Congenital myotonia, autosomal dominant form | 9 | Apr 5, 2024 |
| Congenital nonbullous ichthyosiform erythroderma | 1 | Sep 12, 2021 |
| Congenital primary aphakia | 1 | Mar 29, 2024 |
| Congenital prothrombin deficiency | 10 | Apr 5, 2024 |
| Congenital secretory diarrhea, chloride type | 3 | Sep 22, 2024 |
| Congenital stationary night blindness 1B | 1 | Mar 29, 2024 |
| Congenital stationary night blindness 1C | 2 | Apr 5, 2024 |
| Congenital stationary night blindness 1D | 1 | Mar 26, 2024 |
| Congenital stationary night blindness 1E | 1 | Mar 29, 2024 |
| Congenital stationary night blindness 2A | 1 | Mar 26, 2024 |
| Congenitally corrected transposition of the great arteries | 1 | Sep 23, 2019 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 2 | Mar 25, 2024 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 1 | Jul 7, 2021 |
| Cornea plana 2 | 2 | Sep 22, 2024 |
| Corneal dystrophy, Fuchs endothelial, 1 | 1 | Sep 22, 2024 |
| Corneal dystrophy, Meesmann, 1 | 1 | Dec 19, 2023 |
| Corneal dystrophy, posterior polymorphous, 4 | 1 | Mar 29, 2024 |
| Corneal dystrophy, punctiform and polychromatic pre-descemet | 1 | Mar 25, 2024 |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 2 | Apr 5, 2024 |
| Cornelia de Lange syndrome 1 | 4 | Apr 5, 2024 |
| Cornelia de Lange syndrome 3 | 1 | Apr 5, 2024 |
| Cornelia de Lange syndrome 4 | 1 | Mar 19, 2024 |
| Cornelia de Lange syndrome 5 | 1 | Apr 5, 2024 |
| Cornelia de Lange syndrome 6 | 1 | Dec 19, 2024 |
| Coronary artery disease, autosomal dominant 2 | 4 | Apr 5, 2024 |
| Coronary artery disease, autosomal dominant, 1 | 2 | Mar 29, 2024 |
| Cortical dysplasia | 1 | Dec 30, 2014 |
| Cortical dysplasia, complex, with other brain malformations 11 | 2 | Sep 22, 2024 |
| Cortical dysplasia, complex, with other brain malformations 12 | 1 | Apr 5, 2024 |
| Corticosterone 18-monooxygenase deficiency | 2 | Mar 29, 2024 |
| Costello syndrome | 1 | Apr 5, 2024 |
| Cowden syndrome 1 | 4 | Oct 15, 2024 |
| Cranioectodermal dysplasia | 2 | Oct 2, 2016 |
| Cranioectodermal dysplasia 1 | 4 | Oct 15, 2024 |
| Cranioectodermal dysplasia 2 | 5 | Dec 18, 2024 |
| Crigler-Najjar syndrome type 1 | 1 | Sep 22, 2024 |
| Cryohydrocytosis | 3 | Apr 5, 2024 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2 | Sep 22, 2024 |
| Cutis laxa | 1 | Dec 30, 2014 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 2 | Mar 25, 2024 |
| Cutis laxa, autosomal recessive, type 1B | 2 | Mar 29, 2024 |
| Cystathioninuria | 1 | Apr 5, 2024 |
| Cystic fibrosis | 47 | Dec 19, 2024 |
| Cystinuria | 6 | Dec 19, 2024 |
| Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | 1 | Sep 22, 2024 |
| D-2-hydroxyglutaric aciduria 1 | 2 | Sep 22, 2024 |
| DDX41-related hematologic malignancy predisposition syndrome | 1 | Sep 22, 2024 |
| DEGCAGS syndrome | 2 | Sep 22, 2024 |
| DK1-congenital disorder of glycosylation | 1 | Dec 19, 2024 |
| DNA ligase IV deficiency | 1 | Mar 14, 2024 |
| DOCK2 deficiency | 1 | Mar 25, 2024 |
| DPAGT1-congenital disorder of glycosylation | 2 | Sep 22, 2024 |
| Dalmatian hypouricemia | 3 | Dec 18, 2024 |
| Dandy-Walker syndrome | 2 | Dec 30, 2014 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Apr 5, 2024 |
| Death in infancy | 2 | Sep 12, 2021 |
| Decreased circulating complement C4b concentration | 1 | Dec 19, 2024 |
| Deeah syndrome | 4 | Mar 29, 2024 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 2 | Apr 5, 2024 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 11 | Dec 18, 2024 |
| Deficiency of acetyl-CoA acetyltransferase | 2 | Mar 26, 2024 |
| Deficiency of alpha-mannosidase | 3 | Apr 5, 2024 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 3 | Sep 22, 2024 |
| Deficiency of beta-ureidopropionase | 4 | Dec 19, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 6 | Dec 19, 2024 |
| Deficiency of butyrylcholinesterase | 1 | Mar 29, 2024 |
| Deficiency of galactokinase | 1 | Apr 5, 2024 |
| Deficiency of guanidinoacetate methyltransferase | 3 | Sep 22, 2024 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 2 | Mar 26, 2024 |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 | Mar 26, 2024 |
| Deficiency of phosphoserine phosphatase | 1 | Mar 26, 2024 |
| Deficiency of transaldolase | 2 | Dec 19, 2024 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 6 | Dec 19, 2024 |
| Delayed reflexes | 1 | Dec 30, 2014 |
| Delayed speech and language development | 1 | Aug 27, 2016 |
| Delta-beta-thalassemia | 1 | May 13, 2021 |
| Dent disease type 1 | 3 | Apr 5, 2024 |
| Dentici-Novelli neurodevelopmental syndrome | 1 | Dec 19, 2024 |
| Dentinogenesis imperfecta type 2 | 1 | Mar 29, 2024 |
| Dermatitis, atopic, 2 | 5 | Dec 19, 2024 |
| Dermatofibrosis lenticularis disseminata | 1 | Dec 19, 2024 |
| Desbuquois dysplasia 1 | 3 | Mar 25, 2024 |
| Desmin-related myofibrillar myopathy | 5 | Dec 19, 2024 |
| Desmosterolosis | 1 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy 104 | 4 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy 105 with hypopituitarism | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy 108 | 4 | Dec 18, 2024 |
| Developmental and epileptic encephalopathy 110 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy 89 | 3 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy 91 | 1 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy 93 | 1 | Sep 22, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Mar 26, 2024 |
| Developmental and epileptic encephalopathy, 12 | 1 | Mar 26, 2024 |
| Developmental and epileptic encephalopathy, 13 | 4 | Dec 18, 2024 |
| Developmental and epileptic encephalopathy, 14 | 6 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 15 | 1 | Mar 16, 2024 |
| Developmental and epileptic encephalopathy, 18 | 7 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 19 | 1 | Mar 26, 2024 |
| Developmental and epileptic encephalopathy, 2 | 2 | Dec 18, 2024 |
| Developmental and epileptic encephalopathy, 21 | 1 | Dec 30, 2014 |
| Developmental and epileptic encephalopathy, 23 | 4 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 25 | 2 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 28 | 4 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 3 | 1 | Sep 22, 2024 |
| Developmental and epileptic encephalopathy, 30 | 3 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 31A | 6 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 32 | 2 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 35 | 2 | Mar 25, 2024 |
| Developmental and epileptic encephalopathy, 37 | 3 | Mar 26, 2024 |
| Developmental and epileptic encephalopathy, 4 | 8 | Dec 18, 2024 |
| Developmental and epileptic encephalopathy, 40 | 1 | Sep 22, 2024 |
| Developmental and epileptic encephalopathy, 41 | 1 | Sep 22, 2024 |
| Developmental and epileptic encephalopathy, 43 | 1 | Mar 25, 2024 |
| Developmental and epileptic encephalopathy, 44 | 4 | Dec 18, 2024 |
| Developmental and epileptic encephalopathy, 45 | 1 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 46 | 3 | Sep 22, 2024 |
| Developmental and epileptic encephalopathy, 48 | 2 | Mar 26, 2024 |
| Developmental and epileptic encephalopathy, 49 | 1 | Mar 25, 2024 |
| Developmental and epileptic encephalopathy, 5 | 7 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 51 | 1 | Dec 18, 2024 |
| Developmental and epileptic encephalopathy, 52 | 6 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 54 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 55 | 1 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 59 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 60 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 61 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 64 | 4 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 65 | 3 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 66 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 67 | 2 | Oct 15, 2024 |
| Developmental and epileptic encephalopathy, 68 | 3 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 69 | 1 | Mar 25, 2024 |
| Developmental and epileptic encephalopathy, 70 | 2 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 75 | 3 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 76 | 3 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 79 | 2 | Dec 19, 2024 |
| Developmental and epileptic encephalopathy, 8 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 80 | 1 | Mar 16, 2024 |
| Developmental and epileptic encephalopathy, 82 | 1 | Apr 5, 2024 |
| Developmental and epileptic encephalopathy, 84 | 1 | Mar 16, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2 | Mar 25, 2024 |
| Developmental and epileptic encephalopathy, 86 | 1 | Mar 29, 2024 |
| Developmental and epileptic encephalopathy, 9 | 5 | Sep 22, 2024 |
| Developmental cataract | 1 | Dec 30, 2014 |
| Developmental delay with dysmorphic facies and dental anomalies | 3 | Dec 18, 2024 |
| Developmental delay with hypotonia, myopathy, and brain abnormalities | 1 | Mar 16, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 4 | Sep 22, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 2 | Sep 22, 2024 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 3 | Mar 16, 2024 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | 3 | Apr 5, 2024 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | 1 | Mar 29, 2024 |
| Developmental delay with variable intellectual disability and dysmorphic facies | 2 | Mar 29, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 4 | Dec 19, 2024 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Mar 26, 2024 |
| Developmental delay, hypotonia, and impaired language | 1 | Apr 5, 2024 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 3 | Dec 18, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 6 | Dec 19, 2024 |
| DiGeorge syndrome | 1 | Apr 5, 2024 |
| Diabetes insipidus | 1 | Dec 30, 2014 |
| Diabetes mellitus, permanent neonatal 2 | 4 | Sep 22, 2024 |
| Diabetes mellitus, permanent neonatal 3 | 1 | May 8, 2023 |
| Diamond-Blackfan anemia 1 | 2 | Apr 5, 2024 |
| Diamond-Blackfan anemia 10 | 1 | Mar 29, 2024 |
| Diamond-Blackfan anemia 16 | 1 | Apr 5, 2024 |
| Diamond-Blackfan anemia 5 | 2 | Sep 22, 2024 |
| Diaphragmatic hernia 4, with cardiovascular defects | 1 | Mar 29, 2024 |
| Dias-Logan syndrome | 1 | Sep 22, 2024 |
| Diastrophic dysplasia | 3 | Dec 19, 2024 |
| Dicarboxylic aminoaciduria | 1 | Mar 26, 2024 |
| Diets-Jongmans syndrome | 3 | Apr 5, 2024 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 2 | Sep 22, 2024 |
| Dihydropteridine reductase deficiency | 2 | Apr 5, 2024 |
| Dihydropyrimidinase deficiency | 4 | Apr 5, 2024 |
| Dihydropyrimidine dehydrogenase deficiency | 2 | Mar 25, 2024 |
| Dilated cardiomyopathy 1AA | 2 | Sep 22, 2024 |
| Dilated cardiomyopathy 1CC | 2 | Mar 26, 2024 |
| Dilated cardiomyopathy 1D | 1 | Apr 5, 2024 |
| Dilated cardiomyopathy 1DD | 1 | Dec 19, 2024 |
| Dilated cardiomyopathy 1G | 42 | Jan 4, 2025 |
| Dilated cardiomyopathy 1JJ | 1 | Apr 5, 2024 |
| Dilated cardiomyopathy 1L | 1 | Sep 22, 2024 |
| Dilated cardiomyopathy 1Y | 2 | Mar 29, 2024 |
| Dilated cardiomyopathy 1Z | 1 | Apr 5, 2024 |
| Distal arthrogryposis type 2B1 | 1 | Mar 25, 2024 |
| Distal arthrogryposis type 5D | 5 | Dec 19, 2024 |
| Dizygotic twins | 1 | Feb 2, 2020 |
| Dolichocephaly | 1 | Dec 30, 2014 |
| Donnai-Barrow syndrome | 7 | Dec 18, 2024 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Mar 26, 2024 |
| Duane-radial ray syndrome | 3 | Dec 19, 2024 |
| Dubin-Johnson syndrome | 6 | Sep 22, 2024 |
| Duchenne muscular dystrophy | 10 | Sep 22, 2024 |
| Dworschak-Punetha neurodevelopmental syndrome | 4 | Apr 5, 2024 |
| Dyggve-Melchior-Clausen syndrome | 3 | Mar 25, 2024 |
| Dysarthria | 2 | Dec 30, 2014 |
| Dyschromatosis universalis hereditaria 3 | 1 | Mar 26, 2024 |
| Dysdiadochokinesis | 2 | Dec 30, 2014 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Sep 22, 2024 |
| Dyskeratosis congenita, autosomal dominant 6 | 1 | Sep 22, 2024 |
| Dyskeratosis congenita, autosomal recessive 5 | 5 | Dec 19, 2024 |
| Dyskeratosis congenita, autosomal recessive 6 | 1 | Sep 22, 2024 |
| Dyskinesia with orofacial involvement, autosomal dominant | 1 | Dec 19, 2024 |
| Dyslexia, susceptibility to, 1 | 4 | Dec 19, 2024 |
| Dysmetria | 2 | Dec 30, 2014 |
| Dysmorphism | 1 | Dec 30, 2014 |
| Dystonia 25 | 1 | Apr 5, 2024 |
| Dystonia 28, childhood-onset | 4 | Dec 17, 2024 |
| Dystonia 30 | 1 | Apr 5, 2024 |
| Dystonia 33 | 4 | Sep 22, 2024 |
| Dystonia 37, early-onset, with striatal lesions | 1 | Apr 5, 2024 |
| Dystonia 5 | 1 | Dec 18, 2024 |
| EAST syndrome | 2 | Mar 25, 2024 |
| Early onset focal segmental glomerulosclerosis | 1 | Dec 30, 2014 |
| Early-onset Parkinson disease 20 | 3 | Sep 22, 2024 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Jul 7, 2021 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 | Dec 19, 2024 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 2 | Apr 5, 2024 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Mar 26, 2024 |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 1 | Mar 29, 2024 |
| Ectodermal dysplasia 15, hypohidrotic/hair type | 1 | Mar 25, 2024 |
| Ectodermal dysplasia and immunodeficiency 1 | 2 | Dec 19, 2024 |
| Ectodermal dysplasia-syndactyly syndrome 1 | 1 | Dec 19, 2024 |
| Ectopia lentis 2, isolated, autosomal recessive | 4 | Dec 18, 2024 |
| Ectopia lentis et pupillae | 1 | Jul 7, 2021 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Mar 26, 2024 |
| Ehlers-Danlos syndrome, classic type, 1 | 4 | Oct 15, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 2 | Apr 5, 2024 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 1 | Mar 25, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Mar 26, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 1 | Mar 26, 2024 |
| Ehlers-Danlos syndrome, type 4 | 1 | Dec 18, 2024 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 6 | Dec 19, 2024 |
| Eichsfeld type congenital muscular dystrophy | 3 | Mar 29, 2024 |
| Elliptical nystagmus | 1 | Dec 30, 2014 |
| Elliptocytosis 1 | 2 | Dec 18, 2024 |
| Elliptocytosis 2 | 5 | Dec 19, 2024 |
| Ellis-van Creveld syndrome | 11 | Dec 19, 2024 |
| Elsahy-Waters syndrome | 2 | Apr 5, 2024 |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Sep 22, 2024 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 3 | Dec 18, 2024 |
| Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 | 1 | Mar 25, 2024 |
| Encephalopathy | 3 | Dec 6, 2015 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 2 | Mar 29, 2024 |
| Encephalopathy, acute, infection-induced, susceptibility to, 9 | 3 | Mar 29, 2024 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Mar 29, 2024 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 1 | Sep 22, 2024 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | Sep 12, 2021 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 1 | Mar 25, 2024 |
| Endocrine-cerebro-osteodysplasia syndrome | 1 | Jul 7, 2021 |
| Enhanced S-cone syndrome | 3 | Dec 17, 2024 |
| Enterokinase deficiency | 2 | Mar 16, 2024 |
| Epidermodysplasia verruciformis, susceptibility to, 2 | 1 | Mar 26, 2024 |
| Epidermodysplasia verruciformis, susceptibility to, 3 | 1 | Mar 26, 2024 |
| Epidermolysis bullosa simplex 1A, generalized severe | 3 | Mar 29, 2024 |
| Epidermolysis bullosa simplex 2A, generalized severe | 1 | Mar 26, 2024 |
| Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive | 1 | Mar 25, 2024 |
| Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | 5 | Dec 19, 2024 |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 2 | Dec 19, 2024 |
| Epidermolysis bullosa simplex with nail dystrophy | 3 | Dec 19, 2024 |
| Epidermolysis bullosa, junctional 2B, severe | 6 | Sep 22, 2024 |
| Epidermolysis bullosa, junctional 3B, severe | 3 | Dec 19, 2024 |
| Epidermolysis bullosa, junctional 4, intermediate | 5 | Apr 5, 2024 |
| Epidermolysis bullosa, junctional 6, with pyloric atresia | 2 | Sep 22, 2024 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 2 | Dec 18, 2024 |
| Epidermolytic hyperkeratosis 2A, autosomal dominant | 1 | Mar 25, 2024 |
| Epilepsy | 2 | Dec 30, 2014 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Dec 19, 2024 |
| Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | 1 | Mar 29, 2024 |
| Epilepsy, childhood absence, susceptibility to, 6 | 4 | Dec 19, 2024 |
| Epilepsy, familial adult myoclonic, 1 | 1 | Apr 5, 2024 |
| Epilepsy, familial adult myoclonic, 3 | 1 | Mar 29, 2024 |
| Epilepsy, familial adult myoclonic, 4 | 1 | Dec 19, 2024 |
| Epilepsy, familial adult myoclonic, 7 | 2 | Mar 26, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 10 | Dec 19, 2024 |
| Epilepsy, familial focal, with variable foci 2 | 1 | Apr 5, 2024 |
| Epilepsy, familial focal, with variable foci 3 | 2 | Mar 29, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 3 | Apr 5, 2024 |
| Epilepsy, familial temporal lobe, 1 | 2 | Dec 18, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 | Apr 5, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 4 | Sep 22, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Sep 22, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 17 | 6 | Sep 22, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 2 | Dec 18, 2024 |
| Epilepsy, progressive myoclonic, 11 | 1 | Sep 22, 2024 |
| Epilepsy, progressive myoclonic, 1B | 1 | Mar 29, 2024 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Mar 29, 2024 |
| Episodic ataxia type 6 | 1 | Dec 17, 2024 |
| Episodic ataxia, type 9 | 11 | Sep 22, 2024 |
| Episodic kinesigenic dyskinesia 1 | 1 | Mar 29, 2024 |
| Erythrocyte AMP deaminase deficiency | 1 | Mar 29, 2024 |
| Erythrocytosis, familial, 4 | 1 | Apr 5, 2024 |
| Erythrocytosis, familial, 7 | 2 | Dec 19, 2024 |
| Erythrokeratodermia variabilis et progressiva 2 | 1 | Mar 25, 2024 |
| Erythrokeratodermia variabilis et progressiva 4 | 1 | Apr 5, 2024 |
| Erythrokeratodermia variabilis et progressiva 5 | 1 | Apr 5, 2024 |
| Essential hypertension, genetic | 1 | Mar 29, 2024 |
| Ethylmalonic encephalopathy | 1 | Mar 26, 2024 |
| Exaggerated startle response | 1 | Dec 30, 2014 |
| Exercise-induced hyperinsulinism | 3 | Sep 22, 2024 |
| Exostoses, multiple, type 1 | 6 | Dec 19, 2024 |
| Exostoses, multiple, type 2 | 1 | Apr 5, 2024 |
| Extraoral halitosis due to methanethiol oxidase deficiency | 1 | Apr 5, 2024 |
| Exudative vitreoretinopathy 4 | 5 | Dec 19, 2024 |
| FG syndrome 1 | 3 | Dec 19, 2024 |
| FRAXE | 1 | Mar 29, 2024 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Mar 25, 2024 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 1 | Mar 26, 2024 |
| Facial hypotonia | 1 | Sep 12, 2021 |
| Factor 5 and Factor VIII, combined deficiency of, 2 | 1 | Mar 25, 2024 |
| Factor H deficiency | 2 | Apr 5, 2024 |
| Factor VII deficiency | 9 | May 13, 2021 |
| Factor X deficiency | 10 | May 13, 2021 |
| Factor XII deficiency disease | 3 | Dec 19, 2024 |
| Factor XIII, A subunit, deficiency of | 9 | Sep 22, 2024 |
| Factor XIII, b subunit, deficiency of | 7 | May 13, 2021 |
| Failure to thrive | 6 | Jul 15, 2021 |
| Familial Mediterranean fever | 11 | Dec 19, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 19 | Oct 7, 2024 |
| Familial acute necrotizing encephalopathy | 1 | Mar 26, 2024 |
| Familial adenomatous polyposis 1 | 9 | Sep 22, 2024 |
| Familial adenomatous polyposis 2 | 7 | Sep 22, 2024 |
| Familial adenomatous polyposis 3 | 1 | Mar 29, 2024 |
| Familial adenomatous polyposis 4 | 1 | Mar 25, 2024 |
| Familial amyloid nephropathy with urticaria AND deafness | 2 | Mar 26, 2024 |
| Familial aplasia of the vermis | 6 | Dec 13, 2019 |
| Familial apolipoprotein C-II deficiency | 2 | Sep 22, 2024 |
| Familial benign pemphigus | 1 | Mar 29, 2024 |
| Familial cold autoinflammatory syndrome 2 | 3 | Dec 18, 2024 |
| Familial cold autoinflammatory syndrome 3 | 2 | Dec 18, 2024 |
| Familial congenital nasolacrimal duct obstruction | 2 | Dec 19, 2024 |
| Familial episodic pain syndrome with predominantly upper body involvement | 1 | Apr 5, 2024 |
| Familial expansile osteolysis | 1 | Dec 19, 2024 |
| Familial hemophagocytic lymphohistiocytosis 2 | 10 | Dec 18, 2024 |
| Familial hemophagocytic lymphohistiocytosis 3 | 3 | Apr 5, 2024 |
| Familial hemophagocytic lymphohistiocytosis 4 | 1 | Mar 25, 2024 |
| Familial hemophagocytic lymphohistiocytosis 5 | 2 | Mar 29, 2024 |
| Familial hyperaldosteronism type II | 2 | Apr 5, 2024 |
| Familial hypobetalipoproteinemia 1 | 7 | Sep 22, 2024 |
| Familial hypocalciuric hypercalcemia 1 | 5 | Dec 19, 2024 |
| Familial hypokalemia-hypomagnesemia | 14 | Jan 4, 2025 |
| Familial infantile myasthenia | 2 | Mar 26, 2024 |
| Familial juvenile hyperuricemic nephropathy type 1 | 4 | Dec 17, 2024 |
| Familial meningioma | 1 | Mar 18, 2024 |
| Familial pancreatic carcinoma | 2 | Dec 18, 2024 |
| Familial pulmonary capillary hemangiomatosis | 4 | Oct 15, 2024 |
| Familial renal glucosuria | 3 | Dec 19, 2024 |
| Familial retinal arterial macroaneurysm | 2 | Mar 18, 2024 |
| Familial temporal lobe epilepsy 5 | 2 | Mar 26, 2024 |
| Fanconi anemia complementation group A | 13 | Dec 19, 2024 |
| Fanconi anemia complementation group B | 1 | Dec 19, 2024 |
| Fanconi anemia complementation group C | 1 | Mar 26, 2024 |
| Fanconi anemia complementation group D1 | 1 | May 8, 2023 |
| Fanconi anemia complementation group D2 | 6 | Dec 18, 2024 |
| Fanconi anemia complementation group E | 1 | Mar 26, 2024 |
| Fanconi anemia complementation group F | 1 | Apr 5, 2024 |
| Fanconi anemia complementation group G | 3 | Dec 19, 2024 |
| Fanconi anemia complementation group J | 3 | Sep 22, 2024 |
| Fanconi anemia complementation group P | 3 | Dec 19, 2024 |
| Fanconi anemia complementation group T | 1 | Mar 16, 2024 |
| Fanconi anemia complementation group U | 2 | Sep 22, 2024 |
| Fanconi renotubular syndrome 3 | 1 | Mar 25, 2024 |
| Fanconi-Bickel syndrome | 5 | Sep 22, 2024 |
| Farber lipogranulomatosis | 5 | Apr 5, 2024 |
| Faundes-Banka syndrome | 1 | Mar 26, 2024 |
| Febrile seizures, familial, 4 | 8 | Dec 19, 2024 |
| Febrile seizures, familial, 8 | 2 | Mar 25, 2024 |
| Feingold syndrome type 1 | 3 | Dec 17, 2024 |
| Female infertility due to zona pellucida defect | 2 | Mar 26, 2024 |
| Ferguson-Bonni neurodevelopmental syndrome | 1 | Apr 5, 2024 |
| Fetal akinesia deformation sequence 1 | 2 | Dec 19, 2024 |
| Fibrochondrogenesis 2 | 1 | Sep 12, 2021 |
| Fibrosis of extraocular muscles, congenital, 2 | 1 | Apr 5, 2024 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Apr 5, 2024 |
| Fibrosis of extraocular muscles, congenital, 5 | 2 | Mar 29, 2024 |
| Filippi syndrome | 1 | Mar 29, 2024 |
| Finnish congenital nephrotic syndrome | 7 | Dec 18, 2024 |
| Flexed deformity | 1 | Dec 30, 2014 |
| Floating-Harbor syndrome | 6 | Dec 18, 2024 |
| Focal dermal hypoplasia | 1 | Mar 25, 2024 |
| Focal epilepsy | 1 | Dec 30, 2014 |
| Focal facial dermal dysplasia type IV | 1 | Mar 26, 2024 |
| Focal segmental glomerulosclerosis 1 | 3 | Dec 19, 2024 |
| Focal segmental glomerulosclerosis 2 | 1 | Dec 18, 2024 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 2 | Mar 29, 2024 |
| Focal segmental glomerulosclerosis 6 | 3 | Mar 29, 2024 |
| Focal segmental glomerulosclerosis 8 | 2 | Apr 5, 2024 |
| Focal segmental glomerulosclerosis 9 | 3 | Sep 22, 2024 |
| Fontaine progeroid syndrome | 1 | Mar 25, 2024 |
| Fowler syndrome | 3 | Oct 15, 2024 |
| Fragile X syndrome | 1 | Sep 22, 2024 |
| Frank-Ter Haar syndrome | 1 | Mar 16, 2024 |
| Fraser syndrome 1 | 5 | Dec 19, 2024 |
| Fraser syndrome 2 | 3 | Mar 26, 2024 |
| Fraser syndrome 3 | 2 | Apr 5, 2024 |
| Frontotemporal dementia | 1 | Mar 29, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 2 | Sep 22, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 | Apr 5, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Mar 25, 2024 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 1 | Sep 22, 2024 |
| Fructose-biphosphatase deficiency | 2 | Apr 5, 2024 |
| Fucosidosis | 1 | Mar 18, 2024 |
| GM3 synthase deficiency | 2 | Dec 19, 2024 |
| GNE myopathy | 1 | Mar 29, 2024 |
| GNPTG-mucolipidosis | 2 | Mar 25, 2024 |
| GRACILE syndrome | 1 | Sep 12, 2021 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 2 | Apr 5, 2024 |
| Gabriele de Vries syndrome | 1 | Apr 5, 2024 |
| Galactosylceramide beta-galactosidase deficiency | 6 | Sep 22, 2024 |
| Galloway-Mowat syndrome 5 | 1 | Mar 26, 2024 |
| Galloway-Mowat syndrome 6 | 2 | Mar 25, 2024 |
| Galloway-Mowat syndrome 7 | 2 | Sep 22, 2024 |
| Galloway-Mowat syndrome 8 | 1 | Dec 19, 2024 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Mar 29, 2024 |
| Gamma-glutamylcysteine synthetase deficiency | 1 | Mar 29, 2024 |
| Gastroesophageal reflux | 1 | Dec 30, 2014 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 1 | Oct 15, 2024 |
| Gastrointestinal stroma tumor | 4 | Dec 19, 2024 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 3 | Sep 22, 2024 |
| Gelatinous droplike corneal dystrophy | 1 | Apr 5, 2024 |
| Geleophysic dysplasia 1 | 2 | Dec 19, 2024 |
| Generalized hypotonia | 1 | Sep 12, 2021 |
| Genitopatellar syndrome | 2 | Mar 29, 2024 |
| Geroderma osteodysplastica | 2 | Mar 25, 2024 |
| Ghosal hematodiaphyseal dysplasia | 2 | Sep 22, 2024 |
| Giant axonal neuropathy 1 | 1 | Mar 29, 2024 |
| Gilbert syndrome | 3 | Dec 19, 2024 |
| Gingival fibromatosis-hypertrichosis syndrome | 2 | Mar 29, 2024 |
| Glanzmann thrombasthenia 1 | 6 | Dec 19, 2024 |
| Glanzmann thrombasthenia 2 | 4 | Dec 17, 2024 |
| Glaucoma 3, primary congenital, D | 3 | Mar 29, 2024 |
| Glaucoma 3A | 5 | Apr 17, 2024 |
| Glioma susceptibility 1 | 1 | Dec 18, 2024 |
| Global developmental delay | 42 | Jun 7, 2019 |
| Global developmental delay with or without impaired intellectual development | 4 | Sep 22, 2024 |
| Global developmental delay with speech and behavioral abnormalities | 5 | Apr 5, 2024 |
| Glucocorticoid deficiency 1 | 2 | May 2, 2024 |
| Glucocorticoid deficiency 2 | 2 | May 2, 2024 |
| Glucocorticoid deficiency 4 | 2 | May 2, 2024 |
| Glucocorticoid deficiency 5 | 2 | Dec 19, 2024 |
| Glucocorticoid deficiency with achalasia | 1 | May 2, 2024 |
| Glucocorticoid-remediable aldosteronism | 4 | Mar 29, 2024 |
| Glutamate formiminotransferase deficiency | 1 | Dec 19, 2024 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Mar 26, 2024 |
| Glutaric acidemia IIc | 1 | Mar 16, 2024 |
| Glutaric aciduria, type 1 | 20 | Dec 19, 2024 |
| Glutathione synthetase deficiency without 5-oxoprolinuria | 1 | Dec 19, 2024 |
| Glycine encephalopathy 1 | 7 | Sep 22, 2024 |
| Glycine encephalopathy 2 | 1 | Apr 5, 2024 |
| Glycogen storage disease IXa1 | 1 | Mar 29, 2024 |
| Glycogen storage disease IXb | 1 | Mar 25, 2024 |
| Glycogen storage disease IXc | 3 | Mar 29, 2024 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 3 | Apr 5, 2024 |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 1 | Mar 25, 2024 |
| Glycogen storage disease due to muscle beta-enolase deficiency | 2 | Apr 5, 2024 |
| Glycogen storage disease type III | 11 | Apr 5, 2024 |
| Glycogen storage disease type X | 1 | Jul 1, 2024 |
| Glycogen storage disease, type II | 11 | Dec 19, 2024 |
| Glycogen storage disease, type IV | 2 | Mar 26, 2024 |
| Glycogen storage disease, type V | 2 | Sep 22, 2024 |
| Glycogen storage disease, type VI | 6 | Apr 5, 2024 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 4 | Apr 5, 2024 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 1 | Mar 18, 2024 |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 1 | Apr 5, 2024 |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 1 | Sep 22, 2024 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 1 | Mar 26, 2024 |
| Goldberg-Shprintzen syndrome | 2 | Mar 29, 2024 |
| Gorlin syndrome | 1 | Dec 13, 2019 |
| Grange syndrome | 2 | Mar 29, 2024 |
| Granulomatous disease, chronic, X-linked | 5 | Dec 19, 2024 |
| Granulomatous disease, chronic, autosomal recessive, 5 | 1 | Dec 17, 2024 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2 | Mar 29, 2024 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 3 | Dec 18, 2024 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 6 | Sep 22, 2024 |
| Gray platelet syndrome | 3 | Sep 22, 2024 |
| Greig cephalopolysyndactyly syndrome | 2 | Mar 25, 2024 |
| Griscelli syndrome type 2 | 5 | Oct 15, 2024 |
| Griscelli syndrome type 3 | 3 | Apr 5, 2024 |
| Growth delay due to insulin-like growth factor I resistance | 3 | Dec 19, 2024 |
| Growth delay due to insulin-like growth factor type 1 deficiency | 1 | May 8, 2014 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 4 | Dec 17, 2024 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Oct 15, 2024 |
| H syndrome | 2 | Sep 22, 2024 |
| HELIX syndrome | 1 | Jul 7, 2021 |
| HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 | 2 | Mar 25, 2024 |
| HSD10 mitochondrial disease | 1 | Dec 19, 2024 |
| Hajdu-Cheney syndrome | 4 | Dec 18, 2024 |
| Hao-Fountain syndrome | 1 | Mar 25, 2024 |
| Hao-Fountain syndrome due to USP7 mutation | 1 | Dec 19, 2024 |
| Happy demeanor | 1 | Jun 7, 2019 |
| Hatipoglu immunodeficiency syndrome | 2 | Sep 22, 2024 |
| Hawkinsinuria | 2 | Dec 19, 2024 |
| Hearing impairment | 2 | Dec 30, 2014 |
| Hearing loss, X-linked 6 | 1 | Mar 26, 2024 |
| Hearing loss, autosomal dominant 83 | 2 | Sep 22, 2024 |
| Hearing loss, autosomal dominant 88 | 1 | Mar 26, 2024 |
| Hearing loss, autosomal dominant 90 | 1 | Apr 5, 2024 |
| Hearing loss, autosomal recessive 106 | 1 | Mar 25, 2024 |
| Hearing loss, autosomal recessive 111 | 1 | Mar 29, 2024 |
| Hearing loss, autosomal recessive 112 | 1 | Mar 26, 2024 |
| Hearing loss, autosomal recessive 119 | 2 | Dec 19, 2024 |
| Hearing loss, autosomal recessive 121 | 1 | Mar 25, 2024 |
| Heart and brain malformation syndrome | 1 | Dec 18, 2024 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 1 | Mar 29, 2024 |
| Hecht syndrome | 2 | Sep 22, 2024 |
| Heinz body anemia | 6 | May 13, 2021 |
| Hemiparesis | 1 | Dec 30, 2014 |
| Hemochromatosis type 1 | 1 | Mar 26, 2024 |
| Hemochromatosis type 2A | 1 | Mar 26, 2024 |
| Hemochromatosis type 3 | 2 | Dec 18, 2024 |
| Hemoglobin H disease | 2 | Mar 29, 2024 |
| Hemolytic anemia due to glutathione reductase deficiency | 2 | Mar 29, 2024 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 | Mar 29, 2024 |
| Hemorrhage, intracerebral, susceptibility to | 4 | Apr 5, 2024 |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | 2 | Mar 29, 2024 |
| Hepatic methionine adenosyltransferase deficiency | 1 | Mar 29, 2024 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 2 | Mar 29, 2024 |
| Hepatocellular carcinoma | 2 | Apr 5, 2024 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 1 | Mar 25, 2024 |
| Hepatorenocardiac degenerative fibrosis | 1 | Mar 29, 2024 |
| Hereditary acrodermatitis enteropathica | 3 | Mar 26, 2024 |
| Hereditary angioedema type 1 | 4 | Dec 18, 2024 |
| Hereditary attention deficit-hyperactivity disorder | 2 | Mar 26, 2024 |
| Hereditary cerebral amyloid angiopathy, Icelandic type | 1 | Apr 5, 2024 |
| Hereditary coproporphyria | 1 | Mar 26, 2024 |
| Hereditary diffuse gastric adenocarcinoma | 2 | Mar 29, 2024 |
| Hereditary factor IX deficiency disease | 3 | Apr 5, 2024 |
| Hereditary factor VIII deficiency disease | 32 | Dec 19, 2024 |
| Hereditary factor X deficiency disease | 2 | Dec 18, 2024 |
| Hereditary factor XI deficiency disease | 6 | Apr 5, 2024 |
| Hereditary fructosuria | 2 | Mar 29, 2024 |
| Hereditary hypercarotenemia and vitamin A deficiency | 1 | Mar 29, 2024 |
| Hereditary hypotrichosis with recurrent skin vesicles | 1 | Dec 19, 2024 |
| Hereditary insensitivity to pain with anhidrosis | 8 | Sep 22, 2024 |
| Hereditary intrinsic factor deficiency | 1 | Sep 22, 2024 |
| Hereditary lymphedema type I | 2 | Sep 22, 2024 |
| Hereditary motor and sensory neuropathy, Okinawa type | 2 | Dec 18, 2024 |
| Hereditary mucoepithelial dysplasia | 1 | Mar 26, 2024 |
| Hereditary pancreatitis | 2 | Mar 29, 2024 |
| Hereditary sensory and autonomic neuropathy type 6 | 6 | Dec 19, 2024 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 | Mar 25, 2024 |
| Hereditary spastic paraplegia | 1 | Dec 30, 2014 |
| Hereditary spastic paraplegia 10 | 1 | Sep 22, 2024 |
| Hereditary spastic paraplegia 11 | 5 | Dec 19, 2024 |
| Hereditary spastic paraplegia 15 | 2 | Dec 18, 2024 |
| Hereditary spastic paraplegia 2 | 1 | Mar 14, 2024 |
| Hereditary spastic paraplegia 31 | 2 | Apr 5, 2024 |
| Hereditary spastic paraplegia 35 | 3 | Apr 5, 2024 |
| Hereditary spastic paraplegia 3A | 4 | Dec 19, 2024 |
| Hereditary spastic paraplegia 4 | 2 | Sep 22, 2024 |
| Hereditary spastic paraplegia 45 | 1 | Mar 29, 2024 |
| Hereditary spastic paraplegia 47 | 1 | Mar 25, 2024 |
| Hereditary spastic paraplegia 48 | 5 | Apr 5, 2024 |
| Hereditary spastic paraplegia 49 | 4 | Dec 19, 2024 |
| Hereditary spastic paraplegia 50 | 3 | Mar 29, 2024 |
| Hereditary spastic paraplegia 53 | 1 | Mar 29, 2024 |
| Hereditary spastic paraplegia 56 | 3 | Mar 29, 2024 |
| Hereditary spastic paraplegia 5A | 1 | Sep 22, 2024 |
| Hereditary spastic paraplegia 61 | 2 | Mar 26, 2024 |
| Hereditary spastic paraplegia 62 | 1 | Sep 22, 2024 |
| Hereditary spastic paraplegia 7 | 1 | Sep 22, 2024 |
| Hereditary spastic paraplegia 8 | 2 | Mar 29, 2024 |
| Hereditary spherocytosis type 1 | 10 | Dec 19, 2024 |
| Hereditary spherocytosis type 2 | 8 | Dec 18, 2024 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 5 | Apr 5, 2024 |
| Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | 3 | Dec 19, 2024 |
| Hereditary xanthinuria type 1 | 1 | Mar 29, 2024 |
| Hermansky-Pudlak syndrome 1 | 3 | Dec 17, 2024 |
| Hermansky-Pudlak syndrome 11 | 1 | Mar 26, 2024 |
| Hermansky-Pudlak syndrome 2 | 1 | Sep 22, 2024 |
| Hermansky-Pudlak syndrome 3 | 1 | Sep 22, 2024 |
| Hermansky-Pudlak syndrome 4 | 1 | Apr 5, 2024 |
| Hermansky-Pudlak syndrome 5 | 2 | Apr 5, 2024 |
| Hermansky-Pudlak syndrome 6 | 1 | Mar 18, 2024 |
| Heterotaxy, visceral, 1, X-linked | 1 | Mar 25, 2024 |
| Heterotaxy, visceral, 10, autosomal, with male infertility | 1 | Mar 26, 2024 |
| Heterotaxy, visceral, 2, autosomal | 1 | Mar 29, 2024 |
| Heterotaxy, visceral, 6, autosomal | 1 | Mar 29, 2024 |
| Heterotaxy, visceral, 8, autosomal | 1 | Mar 25, 2024 |
| Heterotopia, periventricular, X-linked dominant | 5 | Dec 19, 2024 |
| High CSF lactic acid | 1 | Dec 30, 2014 |
| Hip dysplasia, Beukes type | 2 | Mar 29, 2024 |
| Hirschsprung disease, susceptibility to, 1 | 12 | Dec 19, 2024 |
| Hirsutism | 1 | Dec 30, 2014 |
| Histiocytic medullary reticulosis | 1 | Mar 11, 2024 |
| History of neonatal hypotonia | 1 | Dec 30, 2014 |
| Hodgkin lymphoma, susceptibility to | 1 | Mar 16, 2024 |
| Hogue-Janssens syndrome 1 | 1 | Apr 5, 2024 |
| Holocarboxylase synthetase deficiency | 2 | Dec 19, 2024 |
| Holoprosencephaly 14 | 1 | Mar 16, 2024 |
| Holoprosencephaly 3 | 2 | Dec 18, 2024 |
| Holoprosencephaly 5 | 1 | Mar 25, 2024 |
| Holoprosencephaly sequence | 1 | Dec 30, 2014 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 3 | Mar 25, 2024 |
| Houge-Janssens syndrome 2 | 1 | Mar 29, 2024 |
| Human HOXA1 syndromes | 1 | Apr 5, 2024 |
| Huntington disease | 3 | Sep 22, 2024 |
| Hurler syndrome | 8 | Dec 19, 2024 |
| Hyaline fibromatosis syndrome | 5 | Dec 19, 2024 |
| Hydatidiform mole, recurrent, 1 | 1 | Feb 2, 2020 |
| Hydatidiform mole, recurrent, 2 | 1 | Mar 29, 2024 |
| Hydatidiform mole, recurrent, 3 | 1 | Mar 29, 2024 |
| Hydranencephaly | 1 | Dec 30, 2014 |
| Hydrocephalus | 6 | Sep 12, 2021 |
| Hydrocephalus, congenital, 3, with brain anomalies | 1 | Sep 12, 2021 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 4 | Apr 5, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 7 | Dec 19, 2024 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 1 | Sep 12, 2021 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 5 | Dec 18, 2024 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 1 | Dec 19, 2024 |
| Hyper-IgM syndrome type 1 | 2 | Mar 18, 2024 |
| Hyper-IgM syndrome type 2 | 1 | Mar 18, 2024 |
| Hyperactive airways | 1 | Dec 30, 2014 |
| Hyperalphalipoproteinemia 1 | 1 | Dec 19, 2024 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Dec 18, 2024 |
| Hypercalcemia, infantile, 1 | 3 | Dec 19, 2024 |
| Hypercalcemia, infantile, 2 | 4 | Dec 18, 2024 |
| Hypercholanemia, familial 1 | 4 | Sep 22, 2024 |
| Hypercholanemia, familial, 2 | 2 | Apr 5, 2024 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Mar 26, 2024 |
| Hypercholesterolemia, familial, 1 | 18 | Dec 19, 2024 |
| Hypercholesterolemia, familial, 4 | 1 | Mar 26, 2024 |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 1 | Dec 18, 2024 |
| Hyperekplexia 1 | 1 | Dec 19, 2024 |
| Hyperekplexia 2 | 1 | Mar 29, 2024 |
| Hyperekplexia 3 | 4 | Dec 19, 2024 |
| Hyperekplexia 4 | 1 | Apr 5, 2024 |
| Hyperimmunoglobulin D with periodic fever | 4 | Dec 17, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 7 | Dec 19, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 3 | May 8, 2023 |
| Hyperinsulinism-hyperammonemia syndrome | 2 | Dec 18, 2024 |
| Hyperlipidemia due to hepatic triglyceride lipase deficiency | 1 | Sep 22, 2024 |
| Hyperlipoproteinemia, type 1D | 4 | Dec 18, 2024 |
| Hyperlipoproteinemia, type I | 8 | Dec 18, 2024 |
| Hyperlysinemia | 2 | Mar 29, 2024 |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 2 | Sep 22, 2024 |
| Hypermetropia | 1 | Dec 30, 2014 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 2 | Mar 25, 2024 |
| Hyperparathyroidism, transient neonatal | 2 | Mar 26, 2024 |
| Hyperphenylalaninemia due to DNAJC12 deficiency | 1 | Dec 19, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Apr 5, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 2 | Mar 25, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 4 | Oct 7, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 1 | Mar 29, 2024 |
| Hypertrichotic osteochondrodysplasia Cantu type | 3 | Dec 19, 2024 |
| Hypertrophic cardiomyopathy 1 | 1 | Sep 22, 2024 |
| Hypertrophic cardiomyopathy 10 | 4 | Dec 18, 2024 |
| Hypertrophic cardiomyopathy 15 | 3 | Dec 18, 2024 |
| Hypertrophic cardiomyopathy 16 | 1 | Mar 29, 2024 |
| Hypertrophic cardiomyopathy 26 | 11 | Dec 19, 2024 |
| Hypertrophic cardiomyopathy 4 | 16 | Dec 19, 2024 |
| Hypertrophic cardiomyopathy 7 | 5 | Jan 4, 2025 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 1 | Dec 19, 2024 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 2 | Dec 19, 2024 |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 1 | Mar 29, 2024 |
| Hypogonadotropic hypogonadism 12 with or without anosmia | 1 | Mar 29, 2024 |
| Hypogonadotropic hypogonadism 16 with or without anosmia | 2 | Dec 19, 2024 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Dec 19, 2024 |
| Hypogonadotropic hypogonadism 26 with or without anosmia | 1 | Sep 22, 2024 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 2 | Dec 18, 2024 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 5 | Mar 29, 2024 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 2 | Dec 19, 2024 |
| Hypohidrosis | 1 | Dec 30, 2014 |
| Hypohidrotic X-linked ectodermal dysplasia | 5 | Dec 19, 2024 |
| Hypokalemic tubulopathy and deafness | 1 | Dec 19, 2024 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Sep 22, 2024 |
| Hypomyelinating leukodystrophy 10 | 2 | Apr 5, 2024 |
| Hypomyelinating leukodystrophy 6 | 1 | Jan 4, 2025 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 2 | Sep 22, 2024 |
| Hypomyelination and Congenital Cataract | 1 | Mar 18, 2024 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 | Apr 5, 2024 |
| Hypoparathyroidism, deafness, renal disease syndrome | 2 | Dec 18, 2024 |
| Hypoparathyroidism, familial isolated, 2 | 1 | Apr 5, 2024 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 2 | May 2, 2024 |
| Hypoplasia of the corpus callosum | 1 | Dec 30, 2014 |
| Hypothyroidism due to TSH receptor mutations | 1 | Mar 18, 2024 |
| Hypothyroidism, congenital, nongoitrous, 2 | 2 | Sep 22, 2024 |
| Hypotonia | 5 | Dec 30, 2014 |
| Hypotonia, ataxia, and delayed development syndrome | 3 | Mar 29, 2024 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 2 | Dec 19, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 3 | Sep 22, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Sep 22, 2024 |
| Hypotrichosis 15 | 1 | Mar 29, 2024 |
| Hypotrichosis 6 | 1 | Dec 18, 2024 |
| Hypotrichosis 7 | 1 | Mar 25, 2024 |
| Hypotrichosis 8 | 2 | Sep 22, 2024 |
| Hypouricemia, renal, 2 | 1 | Mar 26, 2024 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 | Mar 26, 2024 |
| IMAGe syndrome | 1 | May 2, 2024 |
| Ichthyosis prematurity syndrome | 1 | Apr 5, 2024 |
| Idiopathic basal ganglia calcification 1 | 1 | Mar 23, 2024 |
| IgA nephropathy, susceptibility to, 3 | 1 | Jul 7, 2021 |
| Imagawa-Matsumoto syndrome | 1 | Mar 29, 2024 |
| Imerslund-Grasbeck syndrome type 1 | 2 | Mar 26, 2024 |
| Imerslund-Grasbeck syndrome type 2 | 1 | Dec 19, 2024 |
| Immunodeficiency 104 | 4 | Dec 19, 2024 |
| Immunodeficiency 106, susceptibility to viral infections | 4 | Mar 29, 2024 |
| Immunodeficiency 14 | 2 | Dec 19, 2024 |
| Immunodeficiency 18 | 2 | Mar 26, 2024 |
| Immunodeficiency 28 | 1 | Mar 29, 2024 |
| Immunodeficiency 31B | 3 | Sep 22, 2024 |
| Immunodeficiency 32B | 2 | Mar 26, 2024 |
| Immunodeficiency 35 | 3 | Mar 29, 2024 |
| Immunodeficiency 47 | 1 | Apr 5, 2024 |
| Immunodeficiency 49 | 1 | Apr 5, 2024 |
| Immunodeficiency 51 | 3 | Sep 22, 2024 |
| Immunodeficiency 64 | 1 | Mar 29, 2024 |
| Immunodeficiency 67 | 1 | Mar 25, 2024 |
| Immunodeficiency 70 | 1 | Mar 25, 2024 |
| Immunodeficiency 72 with autoinflammation | 1 | Mar 18, 2024 |
| Immunodeficiency 76 | 1 | Mar 25, 2024 |
| Immunodeficiency 77 | 2 | Mar 29, 2024 |
| Immunodeficiency 80 with or without congenital cardiomyopathy | 1 | Mar 26, 2024 |
| Immunodeficiency 82 with systemic inflammation | 1 | Mar 29, 2024 |
| Immunodeficiency 85 and autoimmunity | 1 | Apr 5, 2024 |
| Immunodeficiency 89 and autoimmunity | 1 | Apr 5, 2024 |
| Immunodeficiency 91 and hyperinflammation | 2 | Apr 5, 2024 |
| Immunodeficiency 93 and hypertrophic cardiomyopathy | 1 | Mar 26, 2024 |
| Immunodeficiency 95 | 4 | Dec 18, 2024 |
| Immunodeficiency 98 with autoinflammation, X-linked | 1 | Mar 29, 2024 |
| Immunodeficiency due to purine nucleoside phosphorylase deficiency | 1 | Mar 16, 2024 |
| Immunodeficiency, common variable, 1 | 2 | Mar 26, 2024 |
| Immunodeficiency, common variable, 10 | 1 | Mar 18, 2024 |
| Immunodeficiency, common variable, 12 | 2 | Apr 5, 2024 |
| Immunodeficiency, common variable, 2 | 4 | Sep 22, 2024 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 2 | Dec 19, 2024 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2 | Apr 5, 2024 |
| Inborn mitochondrial myopathy | 1 | Dec 6, 2015 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 | Sep 22, 2024 |
| Infantile GM1 gangliosidosis | 5 | Apr 5, 2024 |
| Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 1 | Mar 25, 2024 |
| Infantile cerebellar-retinal degeneration | 2 | Apr 5, 2024 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 | Dec 19, 2024 |
| Infantile epilepsy | 1 | Dec 30, 2014 |
| Infantile hypophosphatasia | 1 | Sep 12, 2021 |
| Infantile liver failure syndrome 1 | 2 | Sep 22, 2024 |
| Infantile liver failure syndrome 2 | 4 | Dec 19, 2024 |
| Infantile liver failure syndrome 3 | 2 | Mar 29, 2024 |
| Infantile nephronophthisis | 7 | Sep 22, 2024 |
| Infantile neuroaxonal dystrophy | 5 | Dec 18, 2024 |
| Infertility disorder | 1 | Dec 30, 2014 |
| Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive | 1 | Mar 26, 2024 |
| Inflammatory bowel disease 1 | 3 | Dec 18, 2024 |
| Inflammatory bowel disease 10 | 1 | Apr 5, 2024 |
| Inflammatory bowel disease 19 | 1 | Apr 5, 2024 |
| Inflammatory bowel disease 28 | 1 | Mar 25, 2024 |
| Inflammatory bowel disease 30 | 2 | Dec 19, 2024 |
| Inherited obesity | 7 | Dec 19, 2024 |
| Inherited oocyte maturation defect | 1 | Feb 2, 2020 |
| Inherited prekallikrein deficiency | 2 | Apr 5, 2024 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 2 | Oct 15, 2024 |
| Intellectual developmental disorder 59 | 3 | Dec 18, 2024 |
| Intellectual developmental disorder 60 with seizures | 2 | Sep 22, 2024 |
| Intellectual developmental disorder 61 | 5 | Dec 17, 2024 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 3 | Dec 18, 2024 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 3 | Sep 22, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 3 | Apr 5, 2024 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 8 | Dec 19, 2024 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Sep 22, 2024 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Dec 18, 2024 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 4 | Apr 5, 2024 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 | Mar 25, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 2 | Sep 22, 2024 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 1 | Apr 5, 2024 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | Mar 29, 2024 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 4 | Apr 5, 2024 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Apr 5, 2024 |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | 1 | Mar 26, 2024 |
| Intellectual developmental disorder with or without peripheral neuropathy | 1 | Mar 18, 2024 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 1 | Sep 22, 2024 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 8 | Dec 19, 2024 |
| Intellectual developmental disorder with seizures and language delay | 2 | Apr 5, 2024 |
| Intellectual developmental disorder with short stature and behavioral abnormalities | 3 | Dec 19, 2024 |
| Intellectual developmental disorder with speech delay and axonal peripheral neuropathy | 2 | Dec 18, 2024 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Dec 19, 2024 |
| Intellectual developmental disorder, X-linked 111 | 1 | Dec 19, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 1 | Mar 26, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 5 | Dec 17, 2024 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Apr 5, 2024 |
| Intellectual developmental disorder, autosomal dominant 66 | 1 | Sep 22, 2024 |
| Intellectual developmental disorder, autosomal dominant 67 | 1 | Mar 25, 2024 |
| Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | 2 | Dec 19, 2024 |
| Intellectual developmental disorder, autosomal dominant 72 | 3 | Dec 19, 2024 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Sep 22, 2024 |
| Intellectual developmental disorder, autosomal recessive 68 | 2 | Mar 25, 2024 |
| Intellectual developmental disorder, autosomal recessive 69 | 2 | Mar 26, 2024 |
| Intellectual developmental disorder, autosomal recessive 70 | 2 | Sep 22, 2024 |
| Intellectual developmental disorder, autosomal recessive 71 | 7 | Dec 19, 2024 |
| Intellectual developmental disorder, autosomal recessive 72 | 4 | Dec 19, 2024 |
| Intellectual developmental disorder, autosomal recessive 73 | 1 | Mar 18, 2024 |
| Intellectual developmental disorder, autosomal recessive 74 | 3 | Dec 19, 2024 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 4 | Apr 5, 2024 |
| Intellectual disability | 12 | Dec 30, 2014 |
| Intellectual disability, FRA12A type | 3 | Dec 18, 2024 |
| Intellectual disability, X-linked 1 | 3 | Dec 19, 2024 |
| Intellectual disability, X-linked 101 | 1 | Mar 25, 2024 |
| Intellectual disability, X-linked 103 | 1 | Sep 22, 2024 |
| Intellectual disability, X-linked 104 | 3 | Apr 5, 2024 |
| Intellectual disability, X-linked 105 | 1 | Sep 22, 2024 |
| Intellectual disability, X-linked 49 | 1 | Dec 19, 2024 |
| Intellectual disability, X-linked 61 | 2 | Sep 22, 2024 |
| Intellectual disability, X-linked 63 | 1 | Sep 22, 2024 |
| Intellectual disability, X-linked 96 | 1 | Mar 29, 2024 |
| Intellectual disability, X-linked 99 | 1 | Sep 22, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Dec 19, 2024 |
| Intellectual disability, X-linked, syndromic, Bain type | 1 | Sep 22, 2024 |
| Intellectual disability, autosomal dominant 1 | 1 | Sep 22, 2024 |
| Intellectual disability, autosomal dominant 13 | 2 | Dec 17, 2024 |
| Intellectual disability, autosomal dominant 14 | 3 | Dec 19, 2024 |
| Intellectual disability, autosomal dominant 27 | 2 | Dec 19, 2024 |
| Intellectual disability, autosomal dominant 34 | 1 | Apr 5, 2024 |
| Intellectual disability, autosomal dominant 41 | 1 | Apr 5, 2024 |
| Intellectual disability, autosomal dominant 42 | 2 | Apr 5, 2024 |
| Intellectual disability, autosomal dominant 43 | 4 | Dec 19, 2024 |
| Intellectual disability, autosomal dominant 46 | 2 | Sep 22, 2024 |
| Intellectual disability, autosomal dominant 5 | 7 | Dec 19, 2024 |
| Intellectual disability, autosomal dominant 50 | 2 | Dec 19, 2024 |
| Intellectual disability, autosomal dominant 51 | 2 | Mar 26, 2024 |
| Intellectual disability, autosomal dominant 52 | 6 | Sep 22, 2024 |
| Intellectual disability, autosomal dominant 54 | 1 | Mar 26, 2024 |
| Intellectual disability, autosomal dominant 56 | 1 | Dec 19, 2024 |
| Intellectual disability, autosomal dominant 57 | 3 | Dec 18, 2024 |
| Intellectual disability, autosomal dominant 6 | 3 | Sep 22, 2024 |
| Intellectual disability, autosomal dominant 8 | 2 | Dec 18, 2024 |
| Intellectual disability, autosomal dominant 9 | 8 | Dec 17, 2024 |
| Intellectual disability, autosomal recessive 13 | 5 | Mar 29, 2024 |
| Intellectual disability, autosomal recessive 18 | 3 | Mar 26, 2024 |
| Intellectual disability, autosomal recessive 2 | 1 | Sep 22, 2024 |
| Intellectual disability, autosomal recessive 27 | 2 | Apr 5, 2024 |
| Intellectual disability, autosomal recessive 3 | 2 | Mar 25, 2024 |
| Intellectual disability, autosomal recessive 34 | 1 | Mar 25, 2024 |
| Intellectual disability, autosomal recessive 42 | 3 | Mar 29, 2024 |
| Intellectual disability, autosomal recessive 46 | 1 | Mar 18, 2024 |
| Intellectual disability, autosomal recessive 47 | 3 | Dec 18, 2024 |
| Intellectual disability, autosomal recessive 52 | 1 | Apr 5, 2024 |
| Intellectual disability, autosomal recessive 53 | 1 | Sep 22, 2024 |
| Intellectual disability, autosomal recessive 54 | 1 | Mar 14, 2024 |
| Intellectual disability, autosomal recessive 57 | 3 | Apr 5, 2024 |
| Intellectual disability, autosomal recessive 58 | 2 | Apr 5, 2024 |
| Intellectual disability, autosomal recessive 61 | 2 | Apr 5, 2024 |
| Intellectual disability, autosomal recessive 64 | 1 | Apr 5, 2024 |
| Intellectual disability, autosomal recessive 65 | 3 | Apr 5, 2024 |
| Intellectual disability, profound | 1 | Dec 30, 2014 |
| Intellectual disability, severe | 1 | Dec 30, 2014 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 3 | Mar 29, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 4 | Dec 19, 2024 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 3 | Dec 17, 2024 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 3 | Sep 22, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Mar 25, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 4 | Apr 5, 2024 |
| Intellectual disability-strabismus syndrome | 5 | Sep 22, 2024 |
| Interstitial lung disease 2 | 1 | Mar 26, 2024 |
| Interstitial lung disease due to ABCA3 deficiency | 4 | Dec 17, 2024 |
| Intestinal hypomagnesemia 1 | 3 | Dec 18, 2024 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 2 | Apr 5, 2024 |
| Intractable seizure | 2 | Dec 30, 2014 |
| Iodotyrosyl coupling defect | 4 | Mar 29, 2024 |
| Iron deposition in globus pallidus | 1 | Dec 30, 2014 |
| Iron-refractory iron deficiency anemia | 5 | Sep 22, 2024 |
| Isolated focal cortical dysplasia type II | 6 | Sep 22, 2024 |
| Isolated growth hormone deficiency, type 4 | 2 | Apr 5, 2024 |
| Isolated growth hormone deficiency, type 5 | 1 | Apr 5, 2024 |
| Isolated hyperchlorhidrosis | 1 | Mar 26, 2024 |
| Isolated microphthalmia 5 | 4 | Mar 18, 2024 |
| Isolated microphthalmia 6 | 3 | Sep 22, 2024 |
| Isolated microphthalmia 8 | 2 | Mar 18, 2024 |
| Isovaleryl-CoA dehydrogenase deficiency | 4 | Dec 18, 2024 |
| Jaberi-Elahi syndrome | 1 | Mar 25, 2024 |
| Jalili syndrome | 1 | Mar 26, 2024 |
| Johanson-Blizzard syndrome | 1 | Sep 12, 2021 |
| John Milton Hagen blood group system | 1 | Dec 19, 2024 |
| Joubert syndrome 1 | 5 | Dec 19, 2024 |
| Joubert syndrome 10 | 1 | Mar 16, 2024 |
| Joubert syndrome 12 | 1 | Mar 16, 2024 |
| Joubert syndrome 13 | 5 | Mar 25, 2024 |
| Joubert syndrome 14 | 4 | Apr 5, 2024 |
| Joubert syndrome 16 | 2 | Mar 29, 2024 |
| Joubert syndrome 17 | 2 | Dec 13, 2019 |
| Joubert syndrome 20 | 5 | Dec 19, 2024 |
| Joubert syndrome 21 | 2 | Dec 19, 2024 |
| Joubert syndrome 22 | 1 | Dec 13, 2019 |
| Joubert syndrome 23 | 4 | Dec 19, 2024 |
| Joubert syndrome 24 | 3 | Dec 17, 2024 |
| Joubert syndrome 26 | 3 | Mar 29, 2024 |
| Joubert syndrome 3 | 11 | Sep 22, 2024 |
| Joubert syndrome 30 | 2 | Mar 29, 2024 |
| Joubert syndrome 36 | 3 | Sep 22, 2024 |
| Joubert syndrome 5 | 1 | Oct 15, 2024 |
| Joubert syndrome 6 | 1 | Dec 13, 2019 |
| Joubert syndrome 7 | 1 | Mar 29, 2024 |
| Joubert syndrome 9 | 11 | Sep 22, 2024 |
| Joubert syndrome and related disorders | 7 | Oct 2, 2016 |
| Junctional epidermolysis bullosa gravis of Herlitz | 2 | Sep 12, 2021 |
| Junctional epidermolysis bullosa with pyloric atresia | 4 | Dec 17, 2024 |
| Junctional epidermolysis bullosa, non-Herlitz type | 5 | Dec 19, 2024 |
| Juvenile arthritis due to defect in LACC1 | 1 | Mar 16, 2024 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | Dec 19, 2024 |
| Juvenile retinoschisis | 1 | Mar 18, 2024 |
| Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 1 | Dec 19, 2024 |
| KBG syndrome | 7 | Dec 19, 2024 |
| KINSSHIP syndrome | 1 | Dec 19, 2024 |
| Kabuki syndrome 1 | 9 | Dec 17, 2024 |
| Kartagener syndrome | 2 | Dec 18, 2024 |
| Kaya-Barakat-Masson syndrome | 1 | Mar 29, 2024 |
| Keutel syndrome | 1 | Mar 18, 2024 |
| Kilquist syndrome | 5 | Apr 5, 2024 |
| Kindler syndrome | 1 | Dec 19, 2024 |
| Kleefstra syndrome 1 | 4 | Oct 15, 2024 |
| Kleefstra syndrome 2 | 5 | Dec 19, 2024 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 4 | Dec 18, 2024 |
| Klippel-Feil syndrome 2, autosomal recessive | 2 | Sep 22, 2024 |
| Knobloch syndrome 2 | 1 | Dec 17, 2024 |
| Koolen-de Vries syndrome | 2 | Mar 29, 2024 |
| Kostmann syndrome | 5 | Sep 22, 2024 |
| Kufor-Rakeb syndrome | 1 | Apr 5, 2024 |
| Kugelberg-Welander disease | 1 | Sep 22, 2024 |
| L-2-hydroxyglutaric aciduria | 2 | Mar 29, 2024 |
| LIPE-related familial partial lipodystrophy | 2 | Mar 26, 2024 |
| LZTR1-related schwannomatosis | 13 | Dec 18, 2024 |
| Lambdoidal craniosynostosis | 1 | Jul 1, 2024 |
| Landau-Kleffner syndrome | 5 | Dec 19, 2024 |
| Laron-type isolated somatotropin defect | 3 | Dec 18, 2024 |
| Larsen-like syndrome, B3GAT3 type | 4 | Mar 29, 2024 |
| Late-onset retinal degeneration | 1 | Mar 25, 2024 |
| Laterality defect and complex congenital heart disease | 1 | May 8, 2023 |
| Lathosterolosis | 1 | Mar 16, 2024 |
| Leber congenital amaurosis 1 | 9 | Sep 22, 2024 |
| Leber congenital amaurosis 10 | 9 | Dec 19, 2024 |
| Leber congenital amaurosis 13 | 3 | Apr 5, 2024 |
| Leber congenital amaurosis 14 | 2 | Sep 22, 2024 |
| Leber congenital amaurosis 15 | 7 | Dec 19, 2024 |
| Leber congenital amaurosis 16 | 2 | Mar 29, 2024 |
| Leber congenital amaurosis 2 | 1 | Dec 19, 2024 |
| Leber congenital amaurosis 5 | 2 | Dec 17, 2024 |
| Leber congenital amaurosis 6 | 4 | Sep 22, 2024 |
| Leber congenital amaurosis 7 | 2 | Mar 26, 2024 |
| Leber congenital amaurosis 9 | 3 | Apr 5, 2024 |
| Left ventricular noncompaction 7 | 2 | Apr 5, 2024 |
| Legius syndrome | 2 | Sep 22, 2024 |
| Leri-Weill dyschondrosteosis | 1 | Dec 18, 2024 |
| Lesch-Nyhan syndrome | 2 | Dec 19, 2024 |
| Lessel-Kreienkamp syndrome | 2 | Mar 26, 2024 |
| Lethal Kniest-like syndrome | 1 | Jul 7, 2021 |
| Lethal congenital contracture syndrome 11 | 1 | Dec 19, 2024 |
| Lethal congenital contracture syndrome 6 | 1 | Mar 16, 2024 |
| Lethal congenital contracture syndrome 7 | 1 | Sep 12, 2021 |
| Lethal congenital contracture syndrome 9 | 1 | Mar 25, 2024 |
| Lethal multiple pterygium syndrome | 4 | Sep 12, 2021 |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 1 | Dec 19, 2024 |
| Lethal osteosclerotic bone dysplasia | 1 | Apr 5, 2024 |
| Leukocyte adhesion deficiency 1 | 1 | Sep 22, 2024 |
| Leukocyte adhesion deficiency type II | 2 | Oct 15, 2024 |
| Leukodystrophy | 1 | Dec 30, 2014 |
| Leukodystrophy, hypomyelinating, 15 | 3 | Apr 5, 2024 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Sep 22, 2024 |
| Leukodystrophy, hypomyelinating, 18 | 1 | Mar 29, 2024 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 3 | Apr 5, 2024 |
| Leukodystrophy, hypomyelinating, 22 | 1 | Mar 26, 2024 |
| Leukodystrophy, hypomyelinating, 25 | 1 | Mar 29, 2024 |
| Leukodystrophy, hypomyelinating, 26, with chondrodysplasia | 1 | Sep 22, 2024 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Mar 26, 2024 |
| Leukoencephalopathy with vanishing white matter 1 | 2 | Apr 5, 2024 |
| Leukoencephalopathy with vanishing white matter 3 | 2 | Mar 25, 2024 |
| Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | 1 | Apr 5, 2024 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 2 | Sep 22, 2024 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 4 | Dec 19, 2024 |
| Lewy body dementia | 3 | Dec 19, 2024 |
| Leydig cell agenesis | 1 | Dec 19, 2024 |
| Li-Campeau syndrome | 2 | Mar 25, 2024 |
| Li-Fraumeni syndrome 1 | 1 | Dec 17, 2024 |
| Li-Fraumeni syndrome 2 | 1 | Apr 5, 2024 |
| Liang-Wang syndrome | 1 | Apr 5, 2024 |
| Lichtenstein-Knorr syndrome | 1 | Mar 25, 2024 |
| Liddle syndrome 1 | 2 | Apr 5, 2024 |
| Liddle syndrome 2 | 2 | Dec 19, 2024 |
| Light complexion | 1 | Dec 30, 2014 |
| Linear skin defects with multiple congenital anomalies 1 | 1 | Mar 25, 2024 |
| Linear skin defects with multiple congenital anomalies 3 | 1 | Mar 25, 2024 |
| Lipase deficiency, combined | 3 | Sep 22, 2024 |
| Lipid proteinosis | 4 | Sep 22, 2024 |
| Lipodystrophy, partial, acquired, susceptibility to | 1 | Mar 25, 2024 |
| Lissencephaly | 1 | Dec 30, 2014 |
| Lissencephaly 10 | 1 | Mar 25, 2024 |
| Lissencephaly 4 | 3 | Sep 22, 2024 |
| Lissencephaly 6 with microcephaly | 1 | Mar 25, 2024 |
| Lissencephaly 8 | 1 | Mar 29, 2024 |
| Lissencephaly 9 with complex brainstem malformation | 6 | Dec 19, 2024 |
| Lissencephaly due to LIS1 mutation | 1 | Apr 5, 2024 |
| Lissencephaly due to TUBA1A mutation | 3 | Apr 5, 2024 |
| Lissencephaly type 1 due to doublecortin gene mutation | 2 | Mar 26, 2024 |
| Liver disease, severe congenital | 3 | Sep 22, 2024 |
| Lobar holoprosencephaly | 1 | Sep 17, 2021 |
| Localized epidermolytic hyperkeratosis | 1 | Mar 29, 2024 |
| Loeys-Dietz syndrome 1 | 1 | Mar 29, 2024 |
| Loeys-Dietz syndrome 2 | 4 | Sep 22, 2024 |
| Loeys-Dietz syndrome 4 | 1 | Dec 19, 2024 |
| Long QT syndrome 1 | 6 | Dec 18, 2024 |
| Long QT syndrome 11 | 1 | Apr 5, 2024 |
| Long QT syndrome 12 | 1 | Sep 22, 2024 |
| Long QT syndrome 2 | 3 | Dec 17, 2024 |
| Lowe syndrome | 1 | Mar 18, 2024 |
| Lower urinary tract obstruction, congenital | 1 | Mar 29, 2024 |
| Lowry-Wood syndrome | 2 | Mar 26, 2024 |
| Lumbosacral myelomeningocele | 1 | Dec 30, 2014 |
| Lung cancer | 5 | Dec 19, 2024 |
| Luo-Schoch-Yamamoto syndrome | 1 | Sep 22, 2024 |
| Luscan-Lumish syndrome | 2 | Mar 26, 2024 |
| Lymphatic malformation 10 | 1 | Sep 22, 2024 |
| Lymphatic malformation 13 | 1 | Mar 18, 2024 |
| Lymphatic malformation 3 | 4 | Sep 22, 2024 |
| Lymphatic malformation 6 | 1 | Jul 7, 2021 |
| Lymphatic malformation 9 | 1 | Dec 19, 2024 |
| Lymphoma, non-Hodgkin, familial | 1 | Sep 22, 2024 |
| Lymphoproliferative syndrome 1 | 1 | Mar 25, 2024 |
| Lynch syndrome 1 | 12 | Dec 19, 2024 |
| Lynch syndrome 5 | 8 | Dec 19, 2024 |
| Lysinuric protein intolerance | 4 | Dec 19, 2024 |
| Lysosomal acid lipase deficiency | 1 | May 8, 2023 |
| MELAS syndrome | 1 | Apr 14, 2015 |
| METHYLMALONIC ACIDURIA, mut(0) TYPE | 1 | Mar 16, 2024 |
| MGAT2-congenital disorder of glycosylation | 3 | Apr 5, 2024 |
| MHC class I deficiency | 2 | Apr 5, 2024 |
| MHC class II deficiency | 6 | Mar 29, 2024 |
| MHC class II deficiency 1 | 3 | Dec 18, 2024 |
| MHC class II deficiency 3 | 2 | Sep 22, 2024 |
| MHC class II deficiency 5 | 1 | Mar 16, 2024 |
| MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | 1 | Mar 16, 2024 |
| MPDU1-congenital disorder of glycosylation | 1 | Mar 29, 2024 |
| MYPN-related myopathy | 6 | Dec 19, 2024 |
| Macrocephaly | 1 | Dec 30, 2014 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Mar 26, 2024 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Dec 19, 2024 |
| Macrocephaly-developmental delay syndrome | 1 | Apr 5, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 8 | Dec 19, 2024 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 3 | Dec 19, 2024 |
| Macular corneal dystrophy | 1 | Apr 5, 2024 |
| Majeed syndrome | 2 | Mar 26, 2024 |
| Malan overgrowth syndrome | 2 | Apr 5, 2024 |
| Malaria, susceptibility to | 14 | Dec 17, 2024 |
| Mandibulofacial dysostosis-microcephaly syndrome | 3 | Mar 29, 2024 |
| Mannose-binding lectin deficiency | 1 | Mar 26, 2024 |
| Mannosidosis, alpha-, types I and II | 1 | Mar 16, 2024 |
| Maple syrup urine disease type 1A | 7 | Dec 19, 2024 |
| Maple syrup urine disease type 1B | 2 | Mar 25, 2024 |
| Maple syrup urine disease type 2 | 10 | Dec 19, 2024 |
| Maple syrup urine disease, mild variant | 1 | Mar 29, 2024 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | Apr 5, 2024 |
| Marfan syndrome | 25 | Dec 19, 2024 |
| Marinesco-Sjögren syndrome | 3 | Mar 26, 2024 |
| Marked Hypotonia | 1 | Dec 30, 2014 |
| Martsolf syndrome 1 | 1 | Mar 29, 2024 |
| Mast syndrome | 1 | Mar 25, 2024 |
| Matthew-Wood syndrome | 2 | Apr 5, 2024 |
| Maturity-onset diabetes of the young type 1 | 1 | Mar 29, 2024 |
| Maturity-onset diabetes of the young type 2 | 4 | Dec 17, 2024 |
| Maturity-onset diabetes of the young type 3 | 4 | Dec 18, 2024 |
| Maturity-onset diabetes of the young type 8 | 3 | Apr 5, 2024 |
| McKusick-Kaufman syndrome | 5 | Mar 25, 2024 |
| Meckel syndrome 13 | 2 | Sep 22, 2024 |
| Meckel syndrome 14 | 2 | Sep 22, 2024 |
| Meckel syndrome, type 1 | 7 | Oct 15, 2024 |
| Meckel syndrome, type 10 | 1 | Apr 5, 2024 |
| Meckel syndrome, type 11 | 1 | Sep 12, 2021 |
| Meckel syndrome, type 2 | 1 | Sep 22, 2024 |
| Meckel syndrome, type 3 | 3 | Sep 12, 2021 |
| Meckel syndrome, type 6 | 2 | Dec 13, 2019 |
| Meckel syndrome, type 8 | 1 | Dec 13, 2019 |
| Meckel syndrome, type 9 | 2 | Sep 22, 2024 |
| Meckel-Gruber syndrome | 17 | Dec 13, 2019 |
| Meckel-like syndrome | 2 | Sep 12, 2021 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 6 | Oct 15, 2024 |
| Medulloblastoma | 1 | Mar 26, 2024 |
| Megacystis, microcolon, hypoperistalsis syndrome | 1 | Sep 12, 2021 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 4 | Dec 19, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | 2 | Mar 26, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 2 | Sep 22, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 2 | Mar 25, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 3 | Sep 22, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 | Sep 22, 2024 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | Mar 14, 2024 |
| Meier-Gorlin syndrome 1 | 3 | Dec 17, 2024 |
| Meier-Gorlin syndrome 3 | 1 | Mar 25, 2024 |
| Meier-Gorlin syndrome 4 | 2 | Mar 29, 2024 |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 1 | Apr 5, 2024 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | 2 | Sep 22, 2024 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 2 | Mar 26, 2024 |
| Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | 2 | Dec 18, 2024 |
| Menkes kinky-hair syndrome | 2 | Sep 22, 2024 |
| Merosin deficient congenital muscular dystrophy | 11 | Sep 22, 2024 |
| Mesoaxial synostotic syndactyly with phalangeal reduction | 1 | Mar 29, 2024 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 1 | May 8, 2023 |
| Metachromatic leukodystrophy | 6 | Apr 5, 2024 |
| Metaphyseal anadysplasia 1, autosomal dominant | 1 | Mar 16, 2024 |
| Metaphyseal chondrodysplasia, Jansen type | 2 | Dec 19, 2024 |
| Metaphyseal chondrodysplasia, Schmid type | 1 | Mar 25, 2024 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 1 | Dec 17, 2024 |
| Methylcobalamin deficiency type cblG | 2 | Mar 26, 2024 |
| Methylmalonate semialdehyde dehydrogenase deficiency | 1 | Mar 14, 2024 |
| Methylmalonic acidemia due to transcobalamin receptor defect | 1 | Dec 19, 2024 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Sep 22, 2024 |
| Methylmalonic aciduria and homocystinuria type cblD | 1 | Sep 22, 2024 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | Apr 5, 2024 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 12 | Dec 19, 2024 |
| Methylmalonic aciduria, cblA type | 3 | Mar 29, 2024 |
| Methylmalonic aciduria, cblB type | 2 | Dec 19, 2024 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 4 | Dec 19, 2024 |
| Microcephalic osteodysplastic primordial dwarfism type II | 7 | Dec 19, 2024 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 3 | Apr 5, 2024 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 4 | Dec 19, 2024 |
| Microcephalic primordial dwarfism, Alazami type | 5 | Sep 22, 2024 |
| Microcephaly | 9 | Dec 30, 2014 |
| Microcephaly 1, primary, autosomal recessive | 2 | Apr 5, 2024 |
| Microcephaly 13, primary, autosomal recessive | 3 | Sep 22, 2024 |
| Microcephaly 15, primary, autosomal recessive | 1 | Mar 18, 2024 |
| Microcephaly 16, primary, autosomal recessive | 2 | Apr 5, 2024 |
| Microcephaly 17, primary, autosomal recessive | 2 | Mar 26, 2024 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 1 | Mar 14, 2024 |
| Microcephaly 20, primary, autosomal recessive | 2 | Mar 29, 2024 |
| Microcephaly 22, primary, autosomal recessive | 2 | Mar 29, 2024 |
| Microcephaly 23, primary, autosomal recessive | 1 | Mar 29, 2024 |
| Microcephaly 3, primary, autosomal recessive | 7 | Mar 29, 2024 |
| Microcephaly 5, primary, autosomal recessive | 13 | Dec 19, 2024 |
| Microcephaly 6, primary, autosomal recessive | 2 | Mar 26, 2024 |
| Microcephaly 7, primary, autosomal recessive | 1 | Sep 22, 2024 |
| Microcephaly 8, primary, autosomal recessive | 1 | Mar 25, 2024 |
| Microcephaly 9, primary, autosomal recessive | 5 | Apr 5, 2024 |
| Microcephaly and chorioretinopathy 2 | 2 | Sep 22, 2024 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Mar 25, 2024 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 6 | Mar 25, 2024 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 1 | Mar 26, 2024 |
| Microcephaly, normal intelligence and immunodeficiency | 2 | Mar 26, 2024 |
| Microcephaly-capillary malformation syndrome | 2 | Sep 22, 2024 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 3 | Mar 29, 2024 |
| Microcephaly-micromelia syndrome | 2 | Mar 29, 2024 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 1 | Dec 19, 2024 |
| Microcornea-myopic chorioretinal atrophy | 1 | Mar 16, 2024 |
| Micrognathia | 1 | Dec 30, 2014 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 9 | Dec 18, 2024 |
| Microphthalmia, isolated, with coloboma | 1 | Dec 30, 2014 |
| Microphthalmia, isolated, with coloboma 9 | 1 | Sep 22, 2024 |
| Migraine, familial hemiplegic, 2 | 8 | Dec 19, 2024 |
| Mild obesity | 1 | Dec 30, 2014 |
| Miller Dieker syndrome | 1 | Apr 5, 2024 |
| Mirror movements 2 | 1 | Apr 5, 2024 |
| Mirror movements 4 | 1 | Apr 5, 2024 |
| Mismatch repair cancer syndrome 4 | 4 | Apr 5, 2024 |
| Mitochondrial DNA depletion syndrome 1 | 2 | Mar 29, 2024 |
| Mitochondrial DNA depletion syndrome 11 | 2 | Dec 18, 2024 |
| Mitochondrial DNA depletion syndrome 13 | 4 | Mar 26, 2024 |
| Mitochondrial DNA depletion syndrome 19 | 1 | Mar 26, 2024 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Mar 25, 2024 |
| Mitochondrial DNA depletion syndrome 4b | 4 | Apr 5, 2024 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 3 | Mar 29, 2024 |
| Mitochondrial DNA depletion syndrome 8a | 4 | Sep 22, 2024 |
| Mitochondrial DNA depletion syndrome 9 | 1 | Mar 29, 2024 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2 | Dec 18, 2024 |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 | Apr 5, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 1 | Mar 25, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 14 | 1 | Mar 26, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 2 | Sep 22, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 2 | Mar 18, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 19 | 1 | Apr 5, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 1 | Mar 25, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 3 | Mar 29, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 22 | 1 | Apr 5, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 28 | 1 | Sep 22, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 2 | Apr 5, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 6 | 1 | Mar 14, 2024 |
| Mitochondrial complex 4 deficiency, nuclear type 16 | 1 | Dec 19, 2024 |
| Mitochondrial complex 4 deficiency, nuclear type 4 | 1 | Sep 22, 2024 |
| Mitochondrial complex 4 deficiency, nuclear type 8 | 1 | Mar 25, 2024 |
| Mitochondrial complex I deficiency, nuclear type 1 | 1 | Mar 25, 2024 |
| Mitochondrial complex III deficiency nuclear type 1 | 4 | Dec 19, 2024 |
| Mitochondrial complex III deficiency nuclear type 2 | 3 | Dec 19, 2024 |
| Mitochondrial complex III deficiency nuclear type 5 | 2 | Dec 18, 2024 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 4 | Sep 22, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2 | Dec 18, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | 1 | Mar 29, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | Sep 22, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | 1 | Mar 25, 2024 |
| Mitochondrial encephalomyopathy | 3 | Dec 30, 2014 |
| Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 | Apr 5, 2024 |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 1 | Dec 19, 2024 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 2 | Mar 26, 2024 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Mar 29, 2024 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Mar 18, 2024 |
| Mitochondrial trifunctional protein deficiency 1 | 4 | Dec 18, 2024 |
| Mitochondrial trifunctional protein deficiency 2 | 2 | Mar 18, 2024 |
| Mitral valve prolapse, myxomatous 2 | 4 | Dec 18, 2024 |
| Monocytopenia with susceptibility to infections | 4 | Dec 18, 2024 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 3 | Dec 4, 2024 |
| Mowat-Wilson syndrome | 4 | Dec 19, 2024 |
| Moyamoya disease 2 | 2 | Mar 26, 2024 |
| Mucolipidosis type II | 5 | Dec 18, 2024 |
| Mucolipidosis type IV | 2 | Mar 25, 2024 |
| Mucopolysaccharidosis type 6 | 2 | Apr 5, 2024 |
| Mucopolysaccharidosis type 7 | 8 | Sep 22, 2024 |
| Mucopolysaccharidosis, MPS-II | 1 | Mar 18, 2024 |
| Mucopolysaccharidosis, MPS-III-A | 7 | Dec 19, 2024 |
| Mucopolysaccharidosis, MPS-III-B | 4 | Sep 22, 2024 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Dec 17, 2024 |
| Mucopolysaccharidosis, MPS-III-D | 2 | Mar 25, 2024 |
| Mucopolysaccharidosis, MPS-IV-A | 10 | Apr 5, 2024 |
| Mullegama-Klein-Martinez syndrome | 1 | Mar 26, 2024 |
| Mullerian aplasia and hyperandrogenism | 1 | Sep 22, 2024 |
| Multicentric osteolysis, nodulosis, and arthropathy | 1 | Sep 22, 2024 |
| Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | 2 | Mar 29, 2024 |
| Multiple acyl-CoA dehydrogenase deficiency | 8 | Dec 18, 2024 |
| Multiple congenital anomalies | 1 | May 8, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Oct 7, 2024 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2 | Oct 7, 2024 |
| Multiple cutaneous leiomyomas | 2 | Dec 19, 2024 |
| Multiple endocrine neoplasia type 4 | 1 | Sep 22, 2024 |
| Multiple endocrine neoplasia, type 1 | 3 | Dec 18, 2024 |
| Multiple epiphyseal dysplasia type 1 | 2 | Mar 26, 2024 |
| Multiple epiphyseal dysplasia type 5 | 3 | Dec 19, 2024 |
| Multiple mitochondrial dysfunctions syndrome 1 | 1 | Mar 26, 2024 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | Dec 18, 2024 |
| Multiple mitochondrial dysfunctions syndrome 4 | 2 | Mar 29, 2024 |
| Multiple sclerosis, susceptibility to | 6 | Sep 22, 2024 |
| Multiple sulfatase deficiency | 3 | Jan 4, 2025 |
| Muscular dystrophy, congenital, merosin deficient or partially deficient | 2 | Mar 16, 2024 |
| Muscular dystrophy, congenital, with or without seizures | 1 | Sep 22, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 2 | Apr 5, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 5 | Dec 19, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 3 | Mar 18, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 6 | Apr 5, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 | Sep 12, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 2 | Dec 19, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 3 | Oct 7, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 | Dec 13, 2019 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 1 | Mar 29, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Sep 12, 2021 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 1 | Mar 26, 2024 |
| Muscular dystrophy-dystroglycanopathy type B5 | 2 | Mar 25, 2024 |
| Myasthenic syndrome, congenital, 22 | 1 | Mar 25, 2024 |
| Myasthenic syndrome, congenital, 23, presynaptic | 4 | Dec 18, 2024 |
| Myasthenic syndrome, congenital, 24, presynaptic | 2 | Apr 5, 2024 |
| Myelodysplastic syndrome | 1 | Dec 19, 2024 |
| Myelodysplastic syndrome associated with isolated del(5q) | 1 | Mar 25, 2024 |
| Myeloperoxidase deficiency | 2 | Mar 26, 2024 |
| Myoclonic dystonia 11 | 1 | Mar 25, 2024 |
| Myoclonic epilepsy of Lafora 1 | 4 | Mar 29, 2024 |
| Myoclonic epilepsy of Lafora 2 | 2 | Sep 22, 2024 |
| Myoclonic epilepsy, juvenile, susceptibility to, 1 | 1 | Mar 25, 2024 |
| Myoclonic-atonic epilepsy | 4 | Dec 18, 2024 |
| Myofibrillar myopathy 2 | 1 | Mar 14, 2024 |
| Myofibrillar myopathy 3 | 1 | Mar 26, 2024 |
| Myofibrillar myopathy 6 | 1 | Mar 25, 2024 |
| Myofibrillar myopathy 7 | 1 | Mar 29, 2024 |
| Myofibromatosis, infantile, 1 | 2 | Dec 19, 2024 |
| Myoglobinuria, acute recurrent, autosomal recessive | 3 | Dec 18, 2024 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Apr 5, 2024 |
| Myopathy, centronuclear, 2 | 2 | Dec 17, 2024 |
| Myopathy, centronuclear, 5 | 1 | Mar 29, 2024 |
| Myopathy, congenital, progressive, with scoliosis | 1 | Mar 26, 2024 |
| Myopathy, congenital, with tremor | 1 | Mar 26, 2024 |
| Myopathy, distal, 5 | 1 | Mar 25, 2024 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 1 | Mar 26, 2024 |
| Myopathy, proximal, and ophthalmoplegia | 5 | Dec 17, 2024 |
| Myopia 23, autosomal recessive | 2 | Dec 18, 2024 |
| Myopia 24, autosomal dominant | 1 | Mar 29, 2024 |
| Myopia 26, X-linked, female-limited | 1 | Dec 19, 2023 |
| Myopia 27 | 2 | Apr 5, 2024 |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 | Sep 22, 2024 |
| Myosin storage myopathy | 7 | Dec 19, 2024 |
| NAD(P)HX dehydratase deficiency | 1 | Mar 29, 2024 |
| NEK9-related lethal skeletal dysplasia | 1 | Mar 18, 2024 |
| Nail-patella syndrome | 5 | Dec 19, 2024 |
| Nance-Horan syndrome | 2 | Sep 22, 2024 |
| Naxos disease | 1 | Mar 25, 2024 |
| Nemaline myopathy | 1 | Dec 30, 2014 |
| Nemaline myopathy 10 | 1 | May 8, 2023 |
| Nemaline myopathy 2 | 23 | Dec 19, 2024 |
| Nemaline myopathy 6 | 2 | Dec 17, 2024 |
| Nemaline myopathy 7 | 1 | Mar 26, 2024 |
| Nemaline myopathy 8 | 2 | Oct 15, 2024 |
| Nemaline myopathy 9 | 1 | Mar 16, 2024 |
| Neonatal death | 5 | Dec 30, 2014 |
| Neonatal-onset encephalopathy with rigidity and seizures | 4 | Sep 22, 2024 |
| Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | 1 | Dec 18, 2024 |
| Nephronophthisis 12 | 7 | Sep 22, 2024 |
| Nephronophthisis 13 | 3 | Mar 25, 2024 |
| Nephronophthisis 14 | 2 | Dec 18, 2024 |
| Nephronophthisis 15 | 2 | Mar 25, 2024 |
| Nephronophthisis 16 | 4 | Dec 18, 2024 |
| Nephronophthisis 19 | 5 | Dec 18, 2024 |
| Nephronophthisis 20 | 2 | Mar 26, 2024 |
| Nephronophthisis 3 | 2 | Mar 29, 2024 |
| Nephronophthisis 4 | 9 | Dec 18, 2024 |
| Nephronophthisis-like nephropathy 1 | 1 | Sep 22, 2024 |
| Nephronophthisis-like nephropathy 2 | 1 | Dec 18, 2024 |
| Nephropathic cystinosis | 4 | Apr 5, 2024 |
| Nephrotic syndrome 14 | 3 | May 2, 2024 |
| Nephrotic syndrome 16 | 1 | Mar 16, 2024 |
| Nephrotic syndrome, IIa 26 | 3 | Dec 19, 2024 |
| Nephrotic syndrome, type 12 | 3 | Dec 18, 2024 |
| Nephrotic syndrome, type 13 | 1 | Sep 22, 2024 |
| Nephrotic syndrome, type 19 | 2 | Mar 29, 2024 |
| Nephrotic syndrome, type 2 | 6 | Sep 22, 2024 |
| Nephrotic syndrome, type 21 | 1 | Apr 5, 2024 |
| Nephrotic syndrome, type 23 | 1 | Dec 18, 2024 |
| Nephrotic syndrome, type 3 | 3 | Apr 5, 2024 |
| Nephrotic syndrome, type 6 | 3 | Dec 18, 2024 |
| Nephrotic syndrome, type 8 | 2 | Mar 29, 2024 |
| Nephrotic syndrome, type 9 | 1 | Mar 18, 2024 |
| Neural tube defect | 2 | Apr 5, 2024 |
| Neuroblastoma, susceptibility to, 3 | 1 | Dec 19, 2024 |
| Neurodegeneration | 4 | Dec 30, 2014 |
| Neurodegeneration with brain iron accumulation | 1 | Dec 30, 2014 |
| Neurodegeneration with brain iron accumulation 2B | 1 | Sep 12, 2021 |
| Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | 1 | Dec 19, 2024 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2 | Mar 29, 2024 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 2 | Mar 29, 2024 |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | 2 | Apr 5, 2024 |
| Neurodegeneration, childhood-onset, with progressive microcephaly | 1 | Mar 26, 2024 |
| Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 2 | Apr 5, 2024 |
| Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy | 1 | Dec 30, 2014 |
| Neurodegeration | 1 | Dec 30, 2014 |
| Neurodevelopmental disorder | 1 | Apr 4, 2024 |
| Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities | 2 | Sep 22, 2024 |
| Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 3 | Dec 19, 2024 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 3 | Apr 5, 2024 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 3 | Dec 18, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 2 | Dec 18, 2024 |
| Neurodevelopmental disorder with cerebellar hypoplasia and spasticity | 1 | Mar 26, 2024 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 3 | Dec 18, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Dec 19, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 4 | Dec 19, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | 1 | Mar 29, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | Mar 25, 2024 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 2 | Dec 19, 2024 |
| Neurodevelopmental disorder with dystonia and seizures | 1 | Mar 25, 2024 |
| Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | 1 | Mar 18, 2024 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Mar 26, 2024 |
| Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | 2 | Dec 18, 2024 |
| Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | 1 | Mar 25, 2024 |
| Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | 3 | Dec 19, 2024 |
| Neurodevelopmental disorder with hypotonia and gross motor and speech delay | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 4 | Dec 19, 2024 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 2 | Dec 18, 2024 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 3 | Sep 22, 2024 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 2 | Sep 22, 2024 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 2 | Mar 29, 2024 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 5 | Dec 17, 2024 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 2 | Mar 29, 2024 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 4 | Dec 19, 2024 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 4 | Oct 15, 2024 |
| Neurodevelopmental disorder with infantile epileptic spasms | 2 | Apr 5, 2024 |
| Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | 1 | Mar 29, 2024 |
| Neurodevelopmental disorder with involuntary movements | 3 | Dec 19, 2024 |
| Neurodevelopmental disorder with language delay and seizures | 1 | Mar 29, 2024 |
| Neurodevelopmental disorder with language delay and variable cognitive abnormalities | 1 | Dec 19, 2024 |
| Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | 1 | Dec 18, 2024 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 2 | Mar 29, 2024 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 7 | Dec 19, 2024 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 1 | Apr 5, 2024 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 2 | Mar 26, 2024 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | Dec 18, 2024 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 5 | Mar 29, 2024 |
| Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | 1 | Mar 29, 2024 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 4 | Dec 19, 2024 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Mar 26, 2024 |
| Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | 2 | Mar 25, 2024 |
| Neurodevelopmental disorder with midbrain and hindbrain malformations | 1 | Mar 26, 2024 |
| Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | 1 | Mar 29, 2024 |
| Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | 2 | Apr 5, 2024 |
| Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | 1 | Apr 5, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 5 | Dec 18, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2 | Mar 29, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 3 | Mar 29, 2024 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 4 | Sep 22, 2024 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 3 | Dec 18, 2024 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 5 | Dec 19, 2024 |
| Neurodevelopmental disorder with poor growth and behavioral abnormalities | 2 | Apr 5, 2024 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 2 | Mar 26, 2024 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 | Apr 5, 2024 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 4 | Dec 18, 2024 |
| Neurodevelopmental disorder with seizures and gingival overgrowth | 2 | Apr 5, 2024 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 11 | Dec 18, 2024 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 1 | Mar 18, 2024 |
| Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | 1 | Dec 18, 2024 |
| Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 5 | Sep 22, 2024 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 3 | Apr 5, 2024 |
| Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 3 | Sep 22, 2024 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 1 | Dec 18, 2024 |
| Neurodevelopmental disorder with spasticity and poor growth | 1 | Mar 18, 2024 |
| Neurodevelopmental disorder with speech delay and variable ocular anomalies | 1 | Apr 5, 2024 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 4 | Dec 19, 2024 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 2 | Dec 19, 2024 |
| Neurofibromatosis, type 1 | 48 | Dec 19, 2024 |
| Neurofibromatosis, type 2 | 2 | Dec 18, 2024 |
| Neurohypophyseal diabetes insipidus | 1 | Mar 26, 2024 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 | Mar 18, 2024 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 2 | Apr 5, 2024 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 2 | Mar 29, 2024 |
| Neuromuscular disorder, congenital, with dysmorphic facies | 1 | Dec 18, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Dec 19, 2024 |
| Neuronal ceroid lipofuscinosis 13 | 3 | Dec 19, 2024 |
| Neuronal ceroid lipofuscinosis 2 | 2 | Apr 5, 2024 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Dec 19, 2024 |
| Neuronal ceroid lipofuscinosis 5 | 5 | Apr 5, 2024 |
| Neuronal ceroid lipofuscinosis 7 | 7 | Apr 5, 2024 |
| Neuronal ceroid lipofuscinosis 8 | 5 | Dec 18, 2024 |
| Neuronopathy, distal hereditary motor, autosomal dominant 10 | 1 | Mar 29, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 1 | Mar 18, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 2 | Apr 5, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 3 | Apr 5, 2024 |
| Neuronopathy, distal hereditary motor, type 2C | 1 | Mar 25, 2024 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Mar 25, 2024 |
| Neuronopathy, distal hereditary motor, type 7A | 2 | Mar 16, 2024 |
| Neuroocular syndrome | 1 | Mar 25, 2024 |
| Neurooculorenal syndrome | 2 | Dec 19, 2024 |
| Neuropathy, congenital hypomyelinating, 2 | 1 | Mar 26, 2024 |
| Neuropathy, congenital hypomyelinating, 3 | 3 | Sep 22, 2024 |
| Neuropathy, hereditary motor and sensory, type 6B | 1 | Mar 16, 2024 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 2 | Sep 22, 2024 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 2 | Apr 5, 2024 |
| Neutral 1 amino acid transport defect | 3 | Apr 5, 2024 |
| Neutropenia, severe congenital, 1, autosomal dominant | 3 | Dec 18, 2024 |
| Neutropenia, severe congenital, 2, autosomal dominant | 2 | Dec 18, 2024 |
| Neutropenia, severe congenital, 8, autosomal dominant | 3 | Dec 18, 2024 |
| Nicolaides-Baraitser syndrome | 2 | Apr 5, 2024 |
| Niemann-Pick disease, type A | 6 | Apr 5, 2024 |
| Niemann-Pick disease, type C1 | 6 | Dec 18, 2024 |
| Niemann-Pick disease, type C2 | 1 | Apr 5, 2024 |
| Nijmegen breakage syndrome-like disorder | 3 | Dec 19, 2024 |
| Nizon-Isidor syndrome | 1 | Mar 26, 2024 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 2 | Apr 5, 2024 |
| Non-immune hydrops fetalis | 29 | Sep 12, 2021 |
| Nonpersistence of intestinal lactase | 1 | Dec 18, 2024 |
| Nonsyndromic congenital nail disorder 1 | 1 | Mar 19, 2024 |
| Nonsyndromic congenital nail disorder 3 | 3 | Apr 5, 2024 |
| Noonan syndrome 1 | 17 | Dec 19, 2024 |
| Noonan syndrome 14 | 1 | Sep 22, 2024 |
| Noonan syndrome 4 | 3 | Dec 19, 2024 |
| Noonan syndrome 5 | 1 | Dec 18, 2024 |
| Noonan syndrome 6 | 3 | Oct 7, 2024 |
| Noonan syndrome 8 | 2 | Mar 26, 2024 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Mar 18, 2024 |
| Noonan-like facies | 1 | Dec 30, 2014 |
| Norman-Roberts syndrome | 13 | Dec 19, 2024 |
| Norum disease | 1 | Dec 19, 2024 |
| Nystagmus | 2 | Dec 30, 2014 |
| O'Donnell-Luria-Rodan syndrome | 2 | Apr 5, 2024 |
| Obesity due to prohormone convertase I deficiency | 2 | Apr 5, 2024 |
| Obesity, hyperphagia, and developmental delay | 3 | Apr 5, 2024 |
| Occipital pachygyria and polymicrogyria | 4 | Dec 18, 2024 |
| Occult macular dystrophy | 1 | Mar 29, 2024 |
| Ocular albinism, type I | 2 | Sep 22, 2024 |
| Oculocerebrofacial syndrome, Kaufman type | 4 | Apr 5, 2024 |
| Oculocutaneous albinism type 1B | 2 | May 8, 2023 |
| Oculodentodigital dysplasia | 1 | Mar 18, 2024 |
| Oculofaciocardiodental syndrome | 2 | Apr 5, 2024 |
| Oculotrichoanal syndrome | 6 | Sep 22, 2024 |
| Odontochondrodysplasia 1 | 2 | Apr 5, 2024 |
| Odontochondrodysplasia 2 with hearing loss and diabetes | 1 | Mar 29, 2024 |
| Oguchi disease-1 | 2 | Apr 5, 2024 |
| Oligodontia-cancer predisposition syndrome | 1 | Mar 26, 2024 |
| Oligosynaptic infertility | 1 | Mar 26, 2024 |
| Oocyte maturation defect 14 | 1 | Mar 25, 2024 |
| Oocyte maturation defect 2 | 3 | Dec 19, 2024 |
| Oocyte maturation defect 3 | 1 | Apr 5, 2024 |
| Oocyte maturation defect 4 | 1 | Dec 18, 2024 |
| Oocyte maturation defect 5 | 1 | Mar 26, 2024 |
| Oocyte/zygote/embryo maturation arrest 18 | 1 | Apr 5, 2024 |
| Oocyte/zygote/embryo maturation arrest 19 | 1 | Apr 5, 2024 |
| Oocyte/zygote/embryo maturation arrest 21 | 1 | Mar 18, 2024 |
| Opsismodysplasia | 1 | Sep 22, 2024 |
| Optic atrophy | 2 | Dec 30, 2014 |
| Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 | Mar 18, 2024 |
| Optic atrophy 12 | 2 | Oct 15, 2024 |
| Ornithine aminotransferase deficiency | 1 | Mar 18, 2024 |
| Ornithine carbamoyltransferase deficiency | 2 | Oct 7, 2024 |
| Orofacial-digital syndrome III | 3 | Oct 2, 2016 |
| Orofaciodigital syndrome | 2 | Jun 10, 2021 |
| Orofaciodigital syndrome 18 | 1 | Mar 16, 2024 |
| Orofaciodigital syndrome I | 5 | Sep 22, 2024 |
| Orofaciodigital syndrome V | 1 | Mar 18, 2024 |
| Orofaciodigital syndrome type 14 | 1 | Mar 26, 2024 |
| Orofaciodigital syndrome type 6 | 4 | Mar 25, 2024 |
| Osteoarthritis susceptibility 5 | 1 | Mar 29, 2024 |
| Osteogenesis imperfecta type 11 | 4 | Mar 29, 2024 |
| Osteogenesis imperfecta type 13 | 1 | Sep 22, 2024 |
| Osteogenesis imperfecta type 14 | 2 | Mar 26, 2024 |
| Osteogenesis imperfecta type 15 | 3 | Sep 22, 2024 |
| Osteogenesis imperfecta type 16 | 1 | Apr 5, 2024 |
| Osteogenesis imperfecta type 17 | 2 | Mar 18, 2024 |
| Osteogenesis imperfecta type 6 | 3 | Sep 22, 2024 |
| Osteogenesis imperfecta type I | 14 | Dec 19, 2024 |
| Osteogenesis imperfecta, IIA 22 | 1 | Mar 29, 2024 |
| Osteootohepatoenteric syndrome | 1 | Mar 25, 2024 |
| Osteopathia striata with cranial sclerosis | 1 | Dec 17, 2024 |
| Osteopetrosis with renal tubular acidosis | 1 | Mar 14, 2024 |
| Osteopetrosis, autosomal dominant 3 | 1 | Mar 29, 2024 |
| Osteopetrosis, autosomal recessive 9 | 1 | Mar 26, 2024 |
| Osteosclerotic metaphyseal dysplasia | 2 | Apr 5, 2024 |
| Otitis media, susceptibility to | 1 | Dec 18, 2024 |
| Otofacial neurodevelopmental syndrome | 1 | Dec 19, 2024 |
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | 5 | Dec 19, 2024 |
| PERCHING syndrome | 1 | Mar 29, 2024 |
| PGM1-congenital disorder of glycosylation | 2 | Mar 29, 2024 |
| PHGDH deficiency | 5 | Mar 29, 2024 |
| PLIN1-related familial partial lipodystrophy | 1 | Mar 25, 2024 |
| PMM2-congenital disorder of glycosylation | 2 | Apr 5, 2024 |
| PPARG-related familial partial lipodystrophy | 2 | Mar 29, 2024 |
| PSAT deficiency | 1 | Mar 26, 2024 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 2 | Sep 22, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 4 | Sep 22, 2024 |
| PYCR1-related de Barsy syndrome | 1 | Apr 5, 2024 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 1 | Mar 26, 2024 |
| Paget disease of bone 6 | 1 | Apr 5, 2024 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 | Apr 5, 2024 |
| Pancreatic agenesis 1 | 1 | Apr 5, 2024 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 3 | Dec 17, 2024 |
| Pancreatitis, chronic, susceptibility to | 1 | Mar 16, 2024 |
| Pancytopenia-developmental delay syndrome | 5 | Dec 17, 2024 |
| Papillary renal cell carcinoma type 1 | 1 | Dec 19, 2024 |
| Papillon-Lefèvre syndrome | 3 | Mar 26, 2024 |
| Paragangliomas 1 | 1 | Mar 29, 2024 |
| Paragangliomas 3 | 2 | Mar 26, 2024 |
| Paragangliomas 4 | 1 | Mar 25, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 4 | Sep 22, 2024 |
| Parkinson disease 11, autosomal dominant, susceptibility to | 1 | Sep 22, 2024 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 1 | Mar 29, 2024 |
| Parkinson disease 24, autosomal dominant, susceptibility to | 2 | Dec 19, 2024 |
| Parkinson disease, late-onset | 3 | Sep 22, 2024 |
| Paroxysmal nocturnal hemoglobinuria 1 | 2 | Dec 19, 2024 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 2 | Sep 22, 2024 |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 2 | Mar 26, 2024 |
| Pectus excavatum | 1 | Dec 30, 2014 |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | 1 | Sep 22, 2024 |
| Pelizaeus-Merzbacher disease | 2 | Mar 29, 2024 |
| Periampullary adenoma | 1 | Mar 16, 2024 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | May 8, 2023 |
| Periodic hyperkalemic paralysis | 9 | Dec 19, 2024 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 2 | Mar 29, 2024 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 3 | Apr 5, 2024 |
| Periventricular nodular heterotopia 6 | 2 | Dec 18, 2024 |
| Periventricular nodular heterotopia 7 | 2 | Dec 19, 2024 |
| Periventricular nodular heterotopia 8 | 1 | Sep 22, 2024 |
| Perlman syndrome | 2 | Mar 29, 2024 |
| Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | 1 | May 8, 2023 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 1 | Mar 25, 2024 |
| Peroxisome biogenesis disorder 14B | 2 | Dec 19, 2024 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 7 | Apr 5, 2024 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 1 | May 8, 2023 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 2 | Mar 18, 2024 |
| Peroxisome biogenesis disorder 4B | 5 | Dec 19, 2024 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 3 | Dec 19, 2024 |
| Peroxisome biogenesis disorder 8B | 1 | Mar 29, 2024 |
| Peroxisome biogenesis disorder 9B | 2 | Sep 22, 2024 |
| Perrault syndrome 1 | 15 | Sep 22, 2024 |
| Perrault syndrome 4 | 1 | Mar 16, 2024 |
| Perry syndrome | 4 | Sep 22, 2024 |
| Persistent Mullerian duct syndrome | 1 | Mar 26, 2024 |
| Peters plus syndrome | 1 | Mar 26, 2024 |
| Peutz-Jeghers syndrome | 1 | Apr 5, 2024 |
| Pfeiffer syndrome | 8 | Dec 19, 2024 |
| Phenylketonuria | 18 | Dec 19, 2024 |
| Pheochromocytoma | 2 | Dec 18, 2024 |
| Phosphoenolpyruvate carboxykinase deficiency, mitochondrial | 1 | Dec 18, 2024 |
| Phytanic acid storage disease | 2 | Sep 22, 2024 |
| Pierson syndrome | 4 | Dec 19, 2024 |
| Pigmentary pallidal degeneration | 2 | Sep 22, 2024 |
| Pigmented nodular adrenocortical disease, primary, 2 | 3 | Apr 5, 2024 |
| Pilarowski-Bjornsson syndrome | 5 | Apr 5, 2024 |
| Pitt-Hopkins syndrome | 1 | Mar 26, 2024 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 1 | Apr 5, 2024 |
| Platelet-activating factor acetylhydrolase deficiency | 2 | Apr 5, 2024 |
| Platelet-type bleeding disorder 10 | 8 | Dec 18, 2024 |
| Platelet-type bleeding disorder 15 | 3 | Dec 19, 2024 |
| Platelet-type bleeding disorder 20 | 2 | Dec 18, 2024 |
| Pleural effusion | 1 | Dec 30, 2014 |
| Pleuropulmonary blastoma | 5 | Sep 22, 2024 |
| Poikiloderma with neutropenia | 1 | Mar 25, 2024 |
| Polycystic kidney disease 2 | 9 | Dec 19, 2024 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 | Dec 18, 2024 |
| Polycystic kidney disease 4 | 16 | Dec 18, 2024 |
| Polycystic kidney disease 5 | 1 | Mar 29, 2024 |
| Polycystic kidney disease 7 | 1 | Mar 25, 2024 |
| Polycystic kidney disease, adult type | 47 | Dec 19, 2024 |
| Polycystic kidney dysplasia | 2 | Dec 13, 2019 |
| Polycystic liver disease 1 | 1 | Mar 16, 2024 |
| Polycystic liver disease 2 | 6 | Dec 18, 2024 |
| Polydactyly, postaxial, type A9 | 1 | Dec 18, 2024 |
| Polydactyly, postaxial, type a10 | 1 | Mar 26, 2024 |
| Polydactyly, postaxial, type a7 | 2 | Mar 29, 2024 |
| Polyendocrine-polyneuropathy syndrome | 4 | Dec 19, 2024 |
| Polyglandular autoimmune syndrome, type 1 | 5 | Apr 5, 2024 |
| Polyglucosan body myopathy type 1 | 1 | Sep 22, 2024 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 1 | Apr 5, 2024 |
| Polysubstance abuse, susceptibility to | 1 | Mar 29, 2024 |
| Pontocerebellar hypoplasia type 1A | 1 | Sep 12, 2021 |
| Pontocerebellar hypoplasia type 1B | 1 | Sep 22, 2024 |
| Pontocerebellar hypoplasia type 2A | 1 | Apr 5, 2024 |
| Pontocerebellar hypoplasia type 2D | 3 | Mar 16, 2024 |
| Pontocerebellar hypoplasia type 3 | 3 | Dec 19, 2024 |
| Pontocerebellar hypoplasia type 7 | 1 | Apr 5, 2024 |
| Pontocerebellar hypoplasia type 8 | 2 | Dec 18, 2024 |
| Pontocerebellar hypoplasia type 9 | 4 | Dec 19, 2024 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 3 | Sep 22, 2024 |
| Pontocerebellar hypoplasia, type 16 | 2 | Mar 25, 2024 |
| Pontocerebellar hypoplasia, type 1C | 1 | Mar 25, 2024 |
| Pontocerebellar hypoplasia, type 1D | 1 | Mar 16, 2024 |
| Pontocerebellar hypoplasia, type 2F | 1 | Mar 18, 2024 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 1 | Mar 25, 2024 |
| Porphobilinogen synthase deficiency | 1 | Apr 5, 2024 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 | Dec 19, 2024 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Apr 5, 2024 |
| Preimplantation embryonic lethality 1 | 2 | Sep 22, 2024 |
| Preimplantation lethality | 1 | Feb 2, 2020 |
| Premature ovarian failure 13 | 1 | Mar 26, 2024 |
| Premature ovarian failure 14 | 1 | Apr 5, 2024 |
| Premature ovarian failure 19 | 2 | Apr 5, 2024 |
| Premature ovarian failure 2B | 1 | Apr 5, 2024 |
| Premature ovarian failure 9 | 1 | Sep 22, 2024 |
| Primary ciliary dyskinesia 11 | 3 | Apr 5, 2024 |
| Primary ciliary dyskinesia 12 | 3 | Dec 19, 2024 |
| Primary ciliary dyskinesia 13 | 3 | Dec 18, 2024 |
| Primary ciliary dyskinesia 14 | 7 | Dec 19, 2024 |
| Primary ciliary dyskinesia 15 | 5 | Sep 22, 2024 |
| Primary ciliary dyskinesia 17 | 1 | Mar 16, 2024 |
| Primary ciliary dyskinesia 18 | 1 | Dec 18, 2024 |
| Primary ciliary dyskinesia 19 | 1 | Oct 15, 2024 |
| Primary ciliary dyskinesia 2 | 2 | Apr 5, 2024 |
| Primary ciliary dyskinesia 22 | 1 | Mar 25, 2024 |
| Primary ciliary dyskinesia 23 | 1 | Mar 29, 2024 |
| Primary ciliary dyskinesia 28 | 1 | Mar 29, 2024 |
| Primary ciliary dyskinesia 29 | 4 | Sep 22, 2024 |
| Primary ciliary dyskinesia 3 | 20 | Dec 19, 2024 |
| Primary ciliary dyskinesia 30 | 4 | Apr 5, 2024 |
| Primary ciliary dyskinesia 32 | 1 | Mar 25, 2024 |
| Primary ciliary dyskinesia 33 | 2 | Dec 19, 2024 |
| Primary ciliary dyskinesia 34 | 1 | Mar 25, 2024 |
| Primary ciliary dyskinesia 5 | 13 | Dec 19, 2024 |
| Primary ciliary dyskinesia 7 | 9 | Dec 19, 2024 |
| Primary ciliary dyskinesia 9 | 2 | Dec 18, 2024 |
| Primary hyperoxaluria type 3 | 3 | Sep 22, 2024 |
| Primary hyperoxaluria, type I | 5 | Dec 18, 2024 |
| Primary hypomagnesemia | 4 | Sep 22, 2024 |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 1 | Mar 29, 2024 |
| Primary microcephaly | 12 | Dec 6, 2015 |
| Primary myelofibrosis | 3 | Mar 29, 2024 |
| Profound global developmental delay | 3 | Sep 12, 2021 |
| Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | 1 | Mar 29, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 | Mar 25, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 6 | Dec 19, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | Mar 29, 2024 |
| Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | 1 | Dec 19, 2024 |
| Progressive familial heart block type IB | 3 | Dec 18, 2024 |
| Progressive familial intrahepatic cholestasis type 1 | 1 | Oct 15, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 19 | Apr 5, 2024 |
| Progressive familial intrahepatic cholestasis type 3 | 4 | Jan 4, 2025 |
| Progressive limb weakness | 1 | Dec 30, 2014 |
| Progressive microcephaly | 2 | Jul 15, 2021 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | May 8, 2023 |
| Progressive myoclonic epilepsy type 3 | 6 | Dec 19, 2024 |
| Progressive myoclonic epilepsy type 7 | 2 | Sep 22, 2024 |
| Progressive myoclonic epilepsy type 8 | 1 | Mar 26, 2024 |
| Progressive myositis ossificans | 1 | Mar 18, 2024 |
| Progressive pseudorheumatoid dysplasia | 2 | Sep 22, 2024 |
| Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | 1 | Dec 18, 2024 |
| Prolidase deficiency | 2 | Dec 18, 2024 |
| Proline dehydrogenase deficiency | 2 | Mar 26, 2024 |
| Prolonged electroretinal response suppression 2 | 1 | Mar 26, 2024 |
| Properdin deficiency, X-linked | 1 | Mar 26, 2024 |
| Propionic acidemia | 14 | Dec 19, 2024 |
| Proptosis | 1 | Dec 30, 2014 |
| Prostate cancer, hereditary, 1 | 2 | Apr 5, 2024 |
| Prostate cancer, hereditary, 12 | 1 | Dec 18, 2024 |
| Prostate cancer, hereditary, 2 | 1 | Apr 5, 2024 |
| Prostate cancer, hereditary, 2, susceptibility to | 1 | Mar 16, 2024 |
| Proteasome-associated autoinflammatory syndrome 1 | 1 | Mar 29, 2024 |
| Protein-losing enteropathy | 2 | Sep 22, 2024 |
| Protoporphyria, erythropoietic, 1 | 3 | Dec 19, 2024 |
| Proximal myopathy with extrapyramidal signs | 1 | Feb 13, 2024 |
| Pseudo-TORCH syndrome 1 | 1 | Mar 25, 2024 |
| Pseudohypoaldosteronism type 2B | 1 | Jul 7, 2021 |
| Pseudohypoaldosteronism type 2D | 1 | Jul 7, 2021 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 2 | Apr 5, 2024 |
| Pseudohypoparathyroidism type 1B | 7 | Dec 19, 2024 |
| Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | 2 | Mar 16, 2024 |
| Psoriasis 13, susceptibility to | 2 | Sep 22, 2024 |
| Psoriasis 2 | 1 | Apr 5, 2024 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 | Mar 29, 2024 |
| Ptosis | 1 | Dec 30, 2014 |
| Ptosis, hereditary congenital, 1 | 1 | Dec 19, 2023 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Apr 5, 2024 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 5 | Dec 19, 2024 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 1 | Apr 5, 2024 |
| Pulmonary hypertension, primary, 1 | 5 | Dec 18, 2024 |
| Pulmonary hypertension, primary, 2 | 1 | Dec 18, 2024 |
| Pulmonic stenosis | 1 | Dec 30, 2014 |
| Purine-nucleoside phosphorylase deficiency | 4 | Mar 29, 2024 |
| Pyknodysostosis | 1 | Apr 5, 2024 |
| Pyridoxal phosphate-responsive seizures | 1 | Sep 12, 2021 |
| Pyridoxine-dependent epilepsy | 6 | Sep 22, 2024 |
| Pyruvate carboxylase deficiency | 4 | Dec 19, 2024 |
| Pyruvate dehydrogenase E1-alpha deficiency | 4 | Oct 7, 2024 |
| Pyruvate dehydrogenase E1-beta deficiency | 1 | May 8, 2023 |
| Pyruvate dehydrogenase E2 deficiency | 3 | Dec 19, 2024 |
| Pyruvate dehydrogenase E3 deficiency | 3 | Mar 25, 2024 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Mar 25, 2024 |
| Pyruvate kinase deficiency of red cells | 8 | Dec 19, 2024 |
| Quebec platelet disorder | 1 | Mar 25, 2024 |
| RIN2 syndrome | 1 | Mar 26, 2024 |
| Rabson-Mendenhall syndrome | 2 | Dec 19, 2024 |
| Radial dysplasia | 1 | Sep 12, 2021 |
| Radioulnar synostosis, nonsyndromic, susceptibility to | 4 | Dec 19, 2024 |
| Rafiq syndrome | 2 | Sep 22, 2024 |
| Rajab interstitial lung disease with brain calcifications 2 | 1 | Apr 5, 2024 |
| Rauch-Steindl syndrome | 1 | Mar 18, 2024 |
| Recessive dystrophic epidermolysis bullosa | 17 | Dec 19, 2024 |
| Recurrent Neisseria infections due to factor D deficiency | 2 | Apr 5, 2024 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 3 | Mar 25, 2024 |
| Recurrent spontaneous abortion | 6 | Feb 2, 2020 |
| Reduced coagulation factor V activity | 11 | May 13, 2021 |
| Regression of motor development with severe dystonia and corresponding basal ganglia lesions | 1 | Dec 30, 2014 |
| Renal agenesis | 1 | Sep 12, 2021 |
| Renal carnitine transport defect | 3 | Mar 29, 2024 |
| Renal coloboma syndrome | 4 | Sep 22, 2024 |
| Renal cysts and diabetes syndrome | 4 | Dec 19, 2024 |
| Renal hypodysplasia/aplasia 1 | 1 | Mar 29, 2024 |
| Renal hypomagnesemia 5 with ocular involvement | 1 | Mar 25, 2024 |
| Renal tubular acidosis with progressive nerve deafness | 3 | Mar 26, 2024 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 3 | Mar 29, 2024 |
| Renal-hepatic-pancreatic dysplasia 2 | 2 | Mar 29, 2024 |
| Renotubular dysgenesis | 3 | Sep 12, 2021 |
| Respiratory failure | 1 | Sep 12, 2021 |
| Respiratory infections, recurrent, and failure to thrive with or without diarrhea | 3 | Mar 26, 2024 |
| Reticular dysgenesis | 3 | Mar 23, 2024 |
| Retinal dystrophy and obesity | 1 | Apr 5, 2024 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | 1 | Mar 29, 2024 |
| Retinal macular dystrophy type 2 | 3 | Sep 22, 2024 |
| Retinitis pigmentosa 1 | 2 | Oct 15, 2024 |
| Retinitis pigmentosa 12 | 9 | Apr 5, 2024 |
| Retinitis pigmentosa 13 | 2 | Apr 5, 2024 |
| Retinitis pigmentosa 25 | 4 | Jul 1, 2024 |
| Retinitis pigmentosa 26 | 6 | Sep 22, 2024 |
| Retinitis pigmentosa 27 | 2 | Apr 5, 2024 |
| Retinitis pigmentosa 3 | 1 | Mar 29, 2024 |
| Retinitis pigmentosa 38 | 10 | Sep 22, 2024 |
| Retinitis pigmentosa 40 | 2 | Sep 22, 2024 |
| Retinitis pigmentosa 43 | 2 | Apr 5, 2024 |
| Retinitis pigmentosa 45 | 4 | Dec 18, 2024 |
| Retinitis pigmentosa 54 | 1 | Mar 26, 2024 |
| Retinitis pigmentosa 55 | 1 | Mar 18, 2024 |
| Retinitis pigmentosa 59 | 2 | Dec 18, 2024 |
| Retinitis pigmentosa 62 | 1 | Sep 22, 2024 |
| Retinitis pigmentosa 66 | 1 | Dec 4, 2024 |
| Retinitis pigmentosa 86 | 1 | Mar 25, 2024 |
| Retinitis pigmentosa 92 | 3 | Apr 5, 2024 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 1 | Mar 25, 2024 |
| Retinoblastoma | 2 | Dec 19, 2024 |
| Retinoschisis | 1 | Mar 16, 2024 |
| Rett syndrome, congenital variant | 2 | Sep 22, 2024 |
| Rhabdoid tumor predisposition syndrome 2 | 1 | Mar 29, 2024 |
| Rhabdomyolysis, susceptibility to, 1 | 1 | Mar 29, 2024 |
| Rhizomelic chondrodysplasia punctata type 2 | 3 | Sep 22, 2024 |
| Rhizomelic chondrodysplasia punctata type 5 | 4 | Dec 18, 2024 |
| Rippling muscle disease 2 | 2 | Dec 19, 2024 |
| Ritscher-Schinzel syndrome 3 | 1 | Apr 5, 2024 |
| Ritscher-Schinzel syndrome 4 | 1 | Apr 5, 2024 |
| Rothmund-Thomson syndrome type 2 | 2 | Mar 18, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 7 | Sep 22, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 4 | Sep 22, 2024 |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2 | Mar 26, 2024 |
| SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 1 | Mar 14, 2024 |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | 1 | Sep 22, 2024 |
| SMARCB1-related schwannomatosis | 1 | May 8, 2023 |
| SRD5A3-congenital disorder of glycosylation | 1 | Mar 29, 2024 |
| STT3A-congenital disorder of glycosylation | 1 | Mar 26, 2024 |
| Saldino-Mainzer syndrome | 3 | Apr 5, 2024 |
| Salla disease | 3 | Dec 17, 2024 |
| Sandhoff disease | 4 | Dec 19, 2024 |
| Sarcotubular myopathy | 1 | Mar 18, 2024 |
| Schaaf-Yang syndrome | 1 | Apr 5, 2024 |
| Schimke immuno-osseous dysplasia | 4 | Dec 19, 2024 |
| Schinzel phocomelia syndrome | 2 | Mar 25, 2024 |
| Schizophrenia | 3 | Sep 22, 2024 |
| Schuurs-Hoeijmakers syndrome | 2 | Dec 19, 2024 |
| Schwartz-Jampel syndrome type 1 | 3 | Dec 17, 2024 |
| Scoliosis | 1 | Dec 30, 2014 |
| Seckel syndrome 10 | 1 | Apr 5, 2024 |
| Seckel syndrome 2 | 2 | Dec 19, 2024 |
| Seckel syndrome 9 | 1 | Apr 5, 2024 |
| Seizure | 17 | Dec 30, 2014 |
| Seizures, benign familial neonatal, 1 | 6 | Dec 18, 2024 |
| Seizures, benign familial neonatal, 2 | 2 | Dec 17, 2024 |
| Sengers syndrome | 2 | Mar 21, 2024 |
| Senior-Loken syndrome 5 | 4 | Apr 5, 2024 |
| Senior-Loken syndrome 8 | 1 | Sep 12, 2021 |
| Septo-optic dysplasia sequence | 1 | Apr 5, 2024 |
| Sessile serrated polyposis cancer syndrome | 2 | Mar 26, 2024 |
| Severe X-linked intellectual disability, Gustavson type | 2 | Mar 29, 2024 |
| Severe X-linked myotubular myopathy | 2 | Mar 18, 2024 |
| Severe brain malformation | 2 | Dec 30, 2014 |
| Severe cerebellar hypoplasia | 1 | Dec 30, 2014 |
| Severe combined immunodeficiency due to CARD11 deficiency | 2 | Apr 5, 2024 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 1 | Dec 18, 2024 |
| Severe combined immunodeficiency due to CORO1A deficiency | 2 | Mar 29, 2024 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 11 | Sep 22, 2024 |
| Severe combined immunodeficiency due to IKK2 deficiency | 2 | Sep 22, 2024 |
| Severe combined immunodeficiency, B cell-negative | 1 | Mar 16, 2024 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 6 | Apr 5, 2024 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 14 | Dec 18, 2024 |
| Severe cystic degeneration of the brain | 1 | Dec 30, 2014 |
| Severe dystonia | 1 | Dec 30, 2014 |
| Severe early-childhood-onset retinal dystrophy | 15 | Dec 18, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 4 | Mar 26, 2024 |
| Severe global developmental delay | 1 | Dec 30, 2014 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Mar 14, 2024 |
| Severe hydrocephalus | 1 | Dec 30, 2014 |
| Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | 2 | Mar 29, 2024 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 1 | Sep 22, 2024 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Apr 5, 2024 |
| Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2 | Apr 5, 2024 |
| Severe microlissencephaly | 1 | Dec 30, 2014 |
| Severe myoclonic epilepsy in infancy | 21 | Dec 4, 2024 |
| Severe primary microcephaly | 1 | Dec 30, 2014 |
| Severe short-limb dwarfism | 1 | Sep 12, 2021 |
| Shashi-Pena syndrome | 1 | Dec 19, 2024 |
| Short QT syndrome 7 | 1 | Mar 29, 2024 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 3 | Dec 18, 2024 |
| Short stature due to growth hormone secretagogue receptor deficiency | 2 | Dec 19, 2024 |
| Short stature due to primary acid-labile subunit deficiency | 1 | Sep 22, 2024 |
| Short stature, Dauber-Argente type | 1 | Mar 26, 2024 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 2 | Mar 25, 2024 |
| Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | 1 | Mar 26, 2024 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | Apr 5, 2024 |
| Short-rib thoracic dysplasia 13 with or without polydactyly | 3 | Dec 17, 2024 |
| Short-rib thoracic dysplasia 15 with polydactyly | 1 | Mar 26, 2024 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 2 | Mar 18, 2024 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 1 | Mar 26, 2024 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 3 | Sep 22, 2024 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 2 | Dec 13, 2019 |
| Shukla-Vernon syndrome | 1 | Mar 25, 2024 |
| Shwachman-Diamond syndrome 1 | 1 | Mar 18, 2024 |
| Sialic acid storage disease, severe infantile type | 2 | Sep 12, 2021 |
| Sick sinus syndrome 2, autosomal dominant | 1 | Sep 22, 2024 |
| Sideroblastic anemia 2 | 2 | Apr 5, 2024 |
| Sifrim-Hitz-Weiss syndrome | 1 | Mar 26, 2024 |
| Simpson-Golabi-Behmel syndrome type 1 | 2 | Apr 5, 2024 |
| Sinoatrial node dysfunction and deafness | 5 | Dec 17, 2024 |
| Sitosterolemia 1 | 2 | Mar 29, 2024 |
| Sitosterolemia 2 | 1 | Mar 26, 2024 |
| Sjögren-Larsson syndrome | 3 | Mar 29, 2024 |
| Skraban-Deardorff syndrome | 9 | Dec 18, 2024 |
| Slightly reduced reflexes | 2 | Dec 30, 2014 |
| Slurred speech | 2 | Dec 30, 2014 |
| Smith-Lemli-Opitz syndrome | 4 | Mar 29, 2024 |
| Smith-Magenis syndrome | 2 | Dec 19, 2024 |
| Smith-McCort dysplasia 2 | 2 | Mar 25, 2024 |
| Snijders Blok-Campeau syndrome | 6 | Dec 19, 2024 |
| Snijders blok-fisher syndrome | 2 | Mar 29, 2024 |
| Sotos syndrome | 12 | Dec 18, 2024 |
| Spastic ataxia 3 | 1 | Mar 18, 2024 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 3 | Sep 22, 2024 |
| Spastic diplegia | 1 | Dec 30, 2014 |
| Spastic paraplegia | 2 | Dec 30, 2014 |
| Spastic paraplegia 52, autosomal recessive | 2 | Apr 5, 2024 |
| Spastic paraplegia 86, autosomal recessive | 1 | Oct 15, 2024 |
| Spastic paraplegia 88, autosomal dominant | 2 | Sep 22, 2024 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 3 | Dec 17, 2024 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 3 | Dec 18, 2024 |
| Spastic tetraplegia | 1 | Dec 30, 2014 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | Mar 29, 2024 |
| Spasticity-ataxia-gait anomalies syndrome | 1 | Sep 12, 2021 |
| Specific granule deficiency 2 | 2 | May 8, 2023 |
| Spermatogenic failure 10 | 1 | Apr 5, 2024 |
| Spermatogenic failure 18 | 7 | Sep 22, 2024 |
| Spermatogenic failure 20 | 2 | Mar 26, 2024 |
| Spermatogenic failure 23 | 1 | Apr 5, 2024 |
| Spermatogenic failure 25 | 1 | Mar 29, 2024 |
| Spermatogenic failure 27 | 1 | Mar 26, 2024 |
| Spermatogenic failure 3 | 1 | Sep 22, 2024 |
| Spermatogenic failure 34 | 1 | Mar 29, 2024 |
| Spermatogenic failure 43 | 1 | Sep 22, 2024 |
| Spermatogenic failure 45 | 1 | Mar 29, 2024 |
| Spermatogenic failure 46 | 4 | Sep 22, 2024 |
| Spermatogenic failure 52 | 1 | Dec 17, 2024 |
| Spermatogenic failure 53 | 1 | Apr 5, 2024 |
| Spermatogenic failure 57 | 1 | Mar 26, 2024 |
| Spermatogenic failure 65 | 3 | Sep 22, 2024 |
| Spermatogenic failure 68 | 1 | Apr 5, 2024 |
| Spermatogenic failure 80 | 2 | Mar 29, 2024 |
| Spermatogenic failure 88 | 1 | Mar 25, 2024 |
| Spermatogenic failure, X-linked, 3 | 1 | Mar 26, 2024 |
| Sphingolipid activator protein 1 deficiency | 1 | Mar 19, 2024 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Mar 25, 2024 |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 | Mar 16, 2024 |
| Spinal muscular atrophy, infantile, James type | 1 | Sep 22, 2024 |
| Spinocerebellar ataxia 45 | 2 | Apr 5, 2024 |
| Spinocerebellar ataxia 50 | 1 | Apr 5, 2024 |
| Spinocerebellar ataxia type 1 | 1 | Mar 29, 2024 |
| Spinocerebellar ataxia type 10 | 1 | Mar 29, 2024 |
| Spinocerebellar ataxia type 11 | 1 | Dec 19, 2023 |
| Spinocerebellar ataxia type 13 | 1 | Dec 19, 2024 |
| Spinocerebellar ataxia type 14 | 1 | Dec 18, 2024 |
| Spinocerebellar ataxia type 15/16 | 3 | Apr 5, 2024 |
| Spinocerebellar ataxia type 2 | 1 | Dec 18, 2024 |
| Spinocerebellar ataxia type 21 | 1 | Mar 25, 2024 |
| Spinocerebellar ataxia type 35 | 2 | Apr 5, 2024 |
| Spinocerebellar ataxia type 37 | 1 | Dec 19, 2024 |
| Spinocerebellar ataxia type 42 | 1 | Sep 22, 2024 |
| Spinocerebellar ataxia type 6 | 4 | Dec 19, 2024 |
| Spinocerebellar ataxia, autosomal recessive 22 | 1 | Mar 26, 2024 |
| Spinocerebellar ataxia, autosomal recessive 27 | 2 | Mar 29, 2024 |
| Spinocerebellar ataxia, autosomal recessive 28 | 1 | Mar 16, 2024 |
| Spinocerebellar ataxia, autosomal recessive 29 | 2 | Dec 17, 2024 |
| Spinocerebellar ataxia, autosomal recessive 31 | 6 | Sep 22, 2024 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 2 | Sep 22, 2024 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Sep 22, 2024 |
| Split hand-foot malformation 6 | 1 | Mar 18, 2024 |
| Split-foot malformation-mesoaxial polydactyly syndrome | 1 | Mar 18, 2024 |
| Spondylo-ocular syndrome | 1 | Mar 29, 2024 |
| Spondylocarpotarsal synostosis syndrome | 3 | Dec 19, 2024 |
| Spondylocostal dysostosis 1, autosomal recessive | 1 | Mar 29, 2024 |
| Spondylocostal dysostosis 2, autosomal recessive | 1 | Mar 25, 2024 |
| Spondylocostal dysostosis 3, autosomal recessive | 1 | Sep 12, 2021 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 2 | Mar 29, 2024 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 1 | Mar 25, 2024 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 2 | Apr 5, 2024 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 1 | Sep 22, 2024 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 3 | Dec 18, 2024 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 4 | Dec 19, 2024 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 4 | Mar 29, 2024 |
| Spondyloepiphyseal dysplasia, kondo-fu type | 2 | Apr 5, 2024 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 5 | Dec 19, 2024 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 1 | Sep 12, 2021 |
| Spongy degeneration of central nervous system | 1 | Mar 25, 2024 |
| Squamous cell carcinoma of the head and neck | 1 | Apr 5, 2024 |
| Stankiewicz-Isidor syndrome | 1 | Mar 25, 2024 |
| Steatocystoma multiplex | 2 | Dec 19, 2024 |
| Steel syndrome | 4 | Dec 18, 2024 |
| Sterol carrier protein 2 deficiency | 1 | Sep 22, 2024 |
| Stickler syndrome type 1 | 6 | Apr 5, 2024 |
| Stickler syndrome type 2 | 7 | Dec 18, 2024 |
| Stickler syndrome, IIa 6 | 1 | Mar 29, 2024 |
| Stickler syndrome, type 4 | 2 | Dec 19, 2024 |
| Strabismus | 2 | Dec 30, 2014 |
| Striatonigral degeneration, childhood-onset | 2 | Dec 19, 2024 |
| Stromme syndrome | 4 | Sep 22, 2024 |
| Structural heart defects and renal anomalies syndrome | 3 | Dec 19, 2024 |
| Stüve-Wiedemann syndrome 1 | 2 | Apr 5, 2024 |
| Succinate-semialdehyde dehydrogenase deficiency | 2 | Mar 29, 2024 |
| Succinyl-CoA acetoacetate transferase deficiency | 2 | Apr 5, 2024 |
| Sucrase-isomaltase deficiency | 2 | Mar 26, 2024 |
| Sudden cardiac failure, infantile | 1 | Mar 25, 2024 |
| Sudden infant death-dysgenesis of the testes syndrome | 1 | Sep 22, 2024 |
| Suleiman-El-Hattab syndrome | 1 | Mar 14, 2024 |
| Sulfite oxidase deficiency | 2 | Mar 29, 2024 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 | Mar 25, 2024 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Mar 25, 2024 |
| Supravalvar aortic stenosis | 1 | Mar 29, 2024 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Mar 25, 2024 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Sep 22, 2024 |
| Susceptibility to angioedema induced by ACE inhibitors | 1 | Apr 5, 2024 |
| Sweeney-Cox syndrome | 1 | Mar 25, 2024 |
| Symmetrical dyschromatosis of extremities | 1 | Mar 18, 2024 |
| Syndactyly-telecanthus-anogenital and renal malformations syndrome | 1 | Dec 19, 2024 |
| Syndromic X-linked intellectual disability 14 | 1 | Mar 29, 2024 |
| Syndromic X-linked intellectual disability 34 | 1 | Apr 5, 2024 |
| Syndromic X-linked intellectual disability 94 | 2 | Dec 18, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 | Sep 22, 2024 |
| Syndromic X-linked intellectual disability Lubs type | 10 | Dec 18, 2024 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Mar 29, 2024 |
| Syndromic X-linked intellectual disability Siderius type | 1 | Mar 29, 2024 |
| Syndromic multisystem autoimmune disease due to ITCH deficiency | 2 | Mar 26, 2024 |
| Synpolydactyly type 1 | 1 | Mar 25, 2024 |
| Systemic lupus erythematosus | 3 | Sep 22, 2024 |
| Systemic lupus erythematosus, susceptibility to, 9 | 1 | Mar 29, 2024 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 11 | Dec 19, 2024 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 1 | Dec 19, 2024 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Mar 29, 2024 |
| TFRC-related combined immunodeficiency | 1 | Mar 18, 2024 |
| Talipes equinovarus | 2 | Apr 5, 2024 |
| Tall stature-intellectual disability-renal anomalies syndrome | 2 | Mar 29, 2024 |
| Tatton-Brown-Rahman overgrowth syndrome | 3 | Sep 22, 2024 |
| Tay-Sachs disease | 2 | Mar 26, 2024 |
| Tay-Sachs disease, variant AB | 3 | Sep 22, 2024 |
| Teebi hypertelorism syndrome 1 | 1 | Mar 25, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 4 | Sep 22, 2024 |
| Temtamy syndrome | 2 | Mar 18, 2024 |
| Tessadori-van Haaften neurodevelopmental syndrome 1 | 1 | Mar 26, 2024 |
| Tessadori-van Haaften neurodevelopmental syndrome 2 | 1 | Dec 19, 2024 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | Mar 25, 2024 |
| Tetralogy of Fallot | 4 | Dec 19, 2024 |
| Thanatophoric dysplasia type 1 | 1 | Jul 1, 2024 |
| Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) | 1 | Mar 16, 2024 |
| Thrombocytopenia 2 | 3 | Dec 18, 2024 |
| Thrombocytopenia 4 | 1 | Mar 26, 2024 |
| Thrombocytopenia 5 | 3 | Dec 17, 2024 |
| Thrombocytopenia, anemia, and myelofibrosis | 4 | Mar 29, 2024 |
| Thrombophilia due to activated protein C resistance | 5 | Dec 19, 2024 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 | Mar 18, 2024 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 2 | Apr 5, 2024 |
| Thyroglobulin synthesis defect | 1 | Mar 29, 2024 |
| Thyroid cancer, nonmedullary, 4 | 1 | Sep 22, 2024 |
| Thyroid cancer, nonmedullary, 5 | 1 | Dec 18, 2024 |
| Thyroid dyshormonogenesis 6 | 3 | Sep 22, 2024 |
| Timothy syndrome | 2 | Dec 18, 2024 |
| Tolchin-Le Caignec syndrome | 3 | Dec 19, 2024 |
| Tooth agenesis, selective, 1 | 1 | Apr 5, 2024 |
| Tooth agenesis, selective, 10 | 4 | Dec 18, 2024 |
| Torsion dystonia 6 | 1 | Mar 26, 2024 |
| Tourette syndrome | 2 | Apr 5, 2024 |
| Townes-Brocks syndrome 1 | 1 | Jul 7, 2021 |
| Transcobalamin II deficiency | 2 | Dec 19, 2024 |
| Treacher Collins syndrome 1 | 4 | Apr 5, 2024 |
| Treacher Collins syndrome 2 | 1 | Dec 19, 2024 |
| Trichohepatoenteric syndrome 1 | 2 | Mar 26, 2024 |
| Trichohepatoenteric syndrome 2 | 3 | Dec 19, 2024 |
| Trichothiodystrophy 1, photosensitive | 2 | Dec 17, 2024 |
| Trichothiodystrophy 4, nonphotosensitive | 1 | Mar 26, 2024 |
| Trichothiodystrophy 8, nonphotosensitive | 3 | Sep 22, 2024 |
| Trimethylaminuria | 5 | Apr 5, 2024 |
| Triokinase and FMN cyclase deficiency syndrome | 1 | Mar 29, 2024 |
| Triosephosphate isomerase deficiency | 2 | Sep 22, 2024 |
| Troyer syndrome | 1 | Mar 16, 2024 |
| Truncal obesity | 1 | Dec 30, 2014 |
| Tuberous sclerosis 1 | 9 | Dec 18, 2024 |
| Tuberous sclerosis 2 | 23 | Jan 4, 2025 |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 3 | Apr 5, 2024 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 1 | Mar 26, 2024 |
| Turnpenny-fry syndrome | 1 | Mar 25, 2024 |
| Type A2 brachydactyly | 3 | Dec 18, 2024 |
| Type I complement component 8 deficiency | 1 | Apr 5, 2024 |
| Type II complement component 8 deficiency | 1 | May 8, 2023 |
| Type II diabetes mellitus | 1 | Mar 18, 2024 |
| Typical Joubert syndrome MRI findings | 3 | Dec 30, 2014 |
| Tyrosinase-negative oculocutaneous albinism | 2 | Dec 19, 2024 |
| Tyrosinase-positive oculocutaneous albinism | 3 | Oct 7, 2024 |
| Tyrosinemia type I | 8 | Dec 19, 2024 |
| UDPglucose-4-epimerase deficiency | 2 | Dec 18, 2024 |
| Ullrich congenital muscular dystrophy 1A | 3 | Dec 19, 2024 |
| Ullrich congenital muscular dystrophy 1B | 6 | Apr 5, 2024 |
| Ulnar-mammary syndrome | 3 | Mar 26, 2024 |
| Uncombable hair syndrome 1 | 1 | Mar 26, 2024 |
| Upshaw-Schulman syndrome | 3 | Dec 18, 2024 |
| Uridine-cytidineuria | 1 | Apr 5, 2024 |
| Urocanate hydratase deficiency | 1 | Mar 18, 2024 |
| Usher syndrome type 1 | 17 | Dec 19, 2024 |
| Usher syndrome type 1C | 5 | Sep 22, 2024 |
| Usher syndrome type 1D | 11 | Dec 18, 2024 |
| Usher syndrome type 2A | 11 | Dec 19, 2024 |
| Usher syndrome type 2C | 2 | Sep 22, 2024 |
| Usher syndrome type 2D | 1 | Mar 14, 2024 |
| Usher syndrome, type 4 | 1 | Apr 5, 2024 |
| Usmani-Riazuddin syndrome, autosomal dominant | 2 | Mar 29, 2024 |
| VEXAS syndrome | 1 | Apr 5, 2024 |
| VISS syndrome | 3 | Dec 17, 2024 |
| VPS25-related neurodevelopmental delay | 3 | Dec 17, 2023 |
| Van Maldergem syndrome 1 | 1 | Jul 7, 2021 |
| Van Maldergem syndrome 2 | 3 | Sep 22, 2024 |
| Van den Ende-Gupta syndrome | 1 | Apr 5, 2024 |
| Van der Woude syndrome 2 | 1 | Dec 19, 2023 |
| Vanishing testis | 3 | Apr 5, 2024 |
| Variegate porphyria | 2 | Sep 22, 2024 |
| Vasculitis due to ADA2 deficiency | 4 | Mar 26, 2024 |
| Ventral septal defect | 1 | Dec 30, 2014 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 7 | Dec 19, 2024 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 1 | Mar 29, 2024 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 1 | Mar 26, 2024 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 1 | Apr 5, 2024 |
| Ververi-Brady syndrome | 1 | Oct 7, 2024 |
| Very long chain acyl-CoA dehydrogenase deficiency | 8 | Dec 19, 2024 |
| Vici syndrome | 3 | Sep 22, 2024 |
| Visceral neuropathy, familial, 1, autosomal recessive | 1 | Mar 29, 2024 |
| Vissers-Bodmer syndrome | 1 | Mar 26, 2024 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 2 | Mar 25, 2024 |
| Vitamin D-dependent rickets type II with alopecia | 7 | Jan 4, 2025 |
| Vitamin D-dependent rickets, type 1A | 2 | Dec 18, 2024 |
| Vitelliform macular dystrophy 2 | 2 | Dec 19, 2024 |
| Vitelliform macular dystrophy 4 | 1 | Dec 18, 2024 |
| Vitelliform macular dystrophy 5 | 5 | Sep 22, 2024 |
| Von Hippel-Lindau syndrome | 1 | Jul 7, 2021 |
| WT1-related disorder | 1 | Jul 7, 2021 |
| Waardenburg syndrome type 2A | 1 | Mar 29, 2024 |
| Waardenburg syndrome type 2E | 1 | Mar 26, 2024 |
| Waardenburg syndrome type 3 | 1 | Mar 29, 2024 |
| Waardenburg syndrome type 4A | 2 | Dec 18, 2024 |
| Waddling gait | 1 | Dec 30, 2014 |
| Wagner syndrome | 2 | Mar 26, 2024 |
| Warburg micro syndrome 1 | 6 | Mar 29, 2024 |
| Warburg micro syndrome 3 | 1 | Sep 22, 2024 |
| Warsaw breakage syndrome | 2 | Mar 29, 2024 |
| Weaver syndrome | 1 | Apr 5, 2024 |
| Weill-Marchesani 4 syndrome, recessive | 3 | Mar 29, 2024 |
| Weill-Marchesani syndrome 1 | 3 | Sep 22, 2024 |
| Weiss-Kruszka syndrome | 3 | Mar 25, 2024 |
| Werner syndrome | 4 | Dec 19, 2024 |
| White-Kernohan syndrome | 1 | Apr 5, 2024 |
| Wiedemann-Steiner syndrome | 9 | Oct 15, 2024 |
| Williams syndrome | 2 | Sep 22, 2024 |
| Wilson disease | 28 | Dec 18, 2024 |
| Wiskott-Aldrich syndrome | 2 | Sep 22, 2024 |
| Wolcott-Rallison dysplasia | 2 | Apr 5, 2024 |
| Wolfram syndrome 1 | 7 | Dec 19, 2024 |
| Wolfram syndrome 2 | 1 | Mar 25, 2024 |
| Wolman disease | 1 | May 2, 2024 |
| Woodhouse-Sakati syndrome | 7 | Jun 8, 2024 |
| X-linked Alport syndrome | 5 | Oct 15, 2024 |
| X-linked agammaglobulinemia | 5 | Sep 22, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 2 | Mar 29, 2024 |
| X-linked chondrodysplasia punctata 1 | 2 | Dec 19, 2024 |
| X-linked congenital hemolytic anemia | 1 | Sep 12, 2021 |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 2 | Dec 18, 2024 |
| X-linked dystonia-parkinsonism | 3 | Dec 19, 2024 |
| X-linked erythropoietic protoporphyria | 1 | Mar 26, 2024 |
| X-linked hydrocephalus syndrome | 3 | Dec 18, 2024 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Apr 5, 2024 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Dec 19, 2024 |
| X-linked intellectual disability Cabezas type | 1 | Sep 22, 2024 |
| X-linked intellectual disability, Cantagrel type | 4 | Dec 19, 2024 |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | 1 | Mar 25, 2024 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Apr 5, 2024 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | May 8, 2023 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Dec 19, 2023 |
| X-linked progressive cerebellar ataxia | 3 | Dec 18, 2024 |
| X-linked scapuloperoneal muscular dystrophy | 2 | Sep 22, 2024 |
| XFE progeroid syndrome | 4 | Dec 17, 2024 |
| Xanthinuria type II | 2 | Apr 5, 2024 |
| Xeroderma pigmentosum group A | 2 | Sep 22, 2024 |
| Xeroderma pigmentosum, group C | 6 | Dec 18, 2024 |
| Xeroderma pigmentosum, group G | 4 | Apr 5, 2024 |
| Yoon-Bellen neurodevelopmental syndrome | 3 | Apr 5, 2024 |
| ZTTK syndrome | 4 | Dec 19, 2024 |
| Zimmermann-Laband syndrome 1 | 1 | Mar 29, 2024 |
| Zimmermann-laband syndrome 3 | 2 | Sep 22, 2024 |
| marked facial dysmorphism | 2 | Jul 15, 2021 |
| not provided | 440 | Dec 19, 2024 |
| not specified | 110 | Sep 2, 2024 |
| von Willebrand disease type 1 | 47 | Dec 19, 2024 |
