| 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | 32 | Jun 2, 2026 |
| 3 beta-Hydroxysteroid dehydrogenase deficiency | 2 | May 28, 2022 |
| 3-Methylglutaconic aciduria type 2 | 3 | Jun 2, 2026 |
| 3-Methylglutaconic aciduria type 3 | 1 | Apr 7, 2025 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 12 | Jun 2, 2026 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | Mar 9, 2023 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 8 | Jun 2, 2026 |
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | 6 | Jun 2, 2026 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 4 | Jun 2, 2026 |
| 3-methylglutaconic aciduria type 1 | 1 | Jan 11, 2022 |
| 3-methylglutaconic aciduria type 5 | 1 | Jun 2, 2026 |
| 3-methylglutaconic aciduria type 9 | 1 | Jun 2, 2026 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 5 | Jun 2, 2026 |
| 3-methylglutaconic aciduria, type VIIA | 1 | Sep 4, 2022 |
| 3-methylglutaconic aciduria, type VIIB | 3 | Mar 17, 2026 |
| 3M syndrome 1 | 14 | Jun 2, 2026 |
| 3M syndrome 2 | 11 | Jun 2, 2026 |
| 3M syndrome 3 | 3 | Jun 2, 2026 |
| 3MC syndrome 1 | 5 | Jun 2, 2026 |
| 46,XY sex reversal 11 | 1 | Jun 2, 2026 |
| 46,XY sex reversal 3 | 12 | Jun 2, 2026 |
| 46,XY sex reversal 7 | 1 | Jul 18, 2023 |
| 46,xx sex reversal 5 | 1 | Apr 7, 2025 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 4 | Jun 2, 2026 |
| 8q24.3 microdeletion syndrome | 13 | Jun 2, 2026 |
| AARS1-related disorder | 1 | Jun 2, 2026 |
| ABCA12-related disorder | 1 | Oct 10, 2025 |
| ABCA4-related disorder | 56 | Jun 2, 2026 |
| ABCB11-related disorder | 1 | Jun 2, 2026 |
| ABCB4-related disorder | 1 | Jun 2, 2026 |
| ABCD1-related disorder | 1 | Oct 10, 2025 |
| ABI2-related disorder | 1 | Jun 2, 2026 |
| ACAN-related disorder | 3 | Jun 2, 2026 |
| ACCES syndrome | 2 | Jun 2, 2026 |
| ACMSD-related disorder | 1 | Jun 2, 2026 |
| ACTA1-related disorder | 6 | Jun 2, 2026 |
| ACTB-associated syndromic thrombocytopenia | 1 | Jun 2, 2026 |
| ACTB-related disorder | 3 | Jun 2, 2026 |
| ACTH-independent macronodular adrenal hyperplasia 2 | 3 | Jun 2, 2026 |
| ACTL6A-related intellectual disability, autosomal dominant | 1 | Apr 7, 2025 |
| ADA2-related disorder | 3 | Jun 2, 2026 |
| ADAMTSL4-related disorder | 2 | Jun 2, 2026 |
| ADCY5-related disorder | 1 | Oct 10, 2025 |
| ADGRV1-related disorder | 3 | Jun 2, 2026 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 23 | Jun 2, 2026 |
| AGAP1-related disorder | 2 | Jun 2, 2026 |
| AGL-related disorder | 1 | Jun 2, 2026 |
| AGMO-related Neurodevelopmental disorder | 1 | Oct 10, 2025 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 10 | Jun 2, 2026 |
| AIFM1-related disorder | 1 | Jun 2, 2026 |
| AIPL1-related disorder | 1 | Jun 2, 2026 |
| AJAP1-related disorder | 1 | Jun 2, 2026 |
| AKAP6-related disorder | 1 | Oct 10, 2025 |
| ALDH18A1-related de Barsy syndrome | 2 | Sep 4, 2022 |
| ALG1-congenital disorder of glycosylation | 10 | Jun 2, 2026 |
| ALG11-congenital disorder of glycosylation | 4 | Jun 2, 2026 |
| ALG12-congenital disorder of glycosylation | 4 | Apr 7, 2025 |
| ALG2-congenital disorder of glycosylation | 2 | Apr 7, 2025 |
| ALG3-congenital disorder of glycosylation | 4 | Oct 10, 2025 |
| ALPL-related disorder | 2 | Jun 2, 2026 |
| AMED syndrome, digenic | 3 | Mar 17, 2026 |
| ANE syndrome | 1 | Jun 2, 2026 |
| ANK-related Autism spectrum disorder and epilepsy | 2 | Mar 17, 2026 |
| ANK2-related disorder | 13 | Jun 2, 2026 |
| ANK2-related epilepsy | 1 | Mar 17, 2026 |
| ANK3-related disorder | 1 | Oct 10, 2025 |
| ANKRD11-related disorder | 1 | Jun 2, 2026 |
| ANKRD31-related disorder | 1 | Jun 2, 2026 |
| ANKS1B-related disorder | 1 | Oct 10, 2025 |
| ANO1-related fatal neonatal disease due to impaired chloride currents | 1 | Mar 25, 2022 |
| ANO4-related disorder | 2 | Jun 2, 2026 |
| ANO5-related disorder | 3 | Oct 10, 2025 |
| AP1G2-related disorder | 1 | Jun 2, 2026 |
| AP2S1-related disorder | 1 | Jun 2, 2026 |
| APAF1-related disorder | 1 | Jun 2, 2026 |
| APC-related disorder | 1 | Jun 2, 2026 |
| ARF3-related disorder | 1 | Jun 2, 2026 |
| ARHGAP35-related disorder | 1 | Jun 2, 2026 |
| ARMC3-related disorder | 1 | Jun 2, 2026 |
| ARX-related disorder | 3 | Jun 2, 2026 |
| ATL1-related spastic paraplegia, recessive | 1 | Apr 7, 2025 |
| ATM-related disorder | 4 | Jun 2, 2026 |
| ATP13A2-related disorder | 1 | Jun 2, 2026 |
| ATP1A2-related disorder | 3 | Jun 2, 2026 |
| ATP1A3-related disorder | 10 | Jun 2, 2026 |
| ATP5F1A-related disorder | 1 | Jun 2, 2026 |
| ATP6V0A2-related disorder | 1 | Jun 2, 2026 |
| ATP7A-related disorder | 2 | Jun 2, 2026 |
| ATP7B-related disorder | 2 | Jun 2, 2026 |
| ATRX-related disorder | 1 | Jun 2, 2026 |
| Aarskog syndrome | 11 | Jun 2, 2026 |
| Abdominal obesity-metabolic syndrome 4 | 1 | Oct 10, 2025 |
| Abetalipoproteinaemia | 3 | Jun 2, 2026 |
| Abortive cerebellar ataxia | 4 | Jun 2, 2026 |
| Achalasia-progeroid syndrome | 1 | Jun 2, 2026 |
| Achondrogenesis, type IA | 2 | Apr 7, 2025 |
| Achondroplasia | 2 | Jun 2, 2026 |
| Achromatopsia 2 | 16 | Jun 2, 2026 |
| Achromatopsia 3 | 10 | Jun 2, 2026 |
| Achromatopsia 4 | 2 | Jun 2, 2026 |
| Acne inversa, familial, 1 | 2 | Oct 10, 2025 |
| Acquired polycythemia vera | 1 | Apr 7, 2025 |
| Acrocallosal syndrome | 4 | Jun 2, 2026 |
| Acrocapitofemoral dysplasia | 1 | Jul 18, 2023 |
| Acrocephalosyndactyly type I | 1 | Jun 2, 2026 |
| Acrodysostosis 1 with or without hormone resistance | 2 | Jun 2, 2026 |
| Acrodysostosis 2 with or without hormone resistance | 4 | Jun 2, 2026 |
| Acroerythrokeratoderma | 2 | Jun 2, 2026 |
| Acrofacial dysostosis Cincinnati type | 2 | Jun 2, 2026 |
| Acromelic frontonasal dysostosis | 2 | Oct 10, 2025 |
| Acromesomelic dysplasia 1, Maroteaux type | 8 | Jun 2, 2026 |
| Acromicric dysplasia | 3 | Oct 10, 2025 |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | 2 | Apr 7, 2025 |
| Actin accumulation myopathy | 4 | Jun 2, 2026 |
| Action myoclonus-renal failure syndrome | 1 | Oct 10, 2025 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 2 | Jun 2, 2026 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 3 | Jun 2, 2026 |
| Acute intermittent porphyria | 4 | Jun 2, 2026 |
| Acute myeloid leukemia | 3 | Jul 4, 2025 |
| Acyl-CoA dehydrogenase 9 deficiency | 3 | Jun 2, 2026 |
| Acyl-CoA oxidase deficiency | 3 | Oct 10, 2025 |
| Adams-Oliver syndrome 2 | 11 | Jun 2, 2026 |
| Adams-Oliver syndrome 4 | 1 | Nov 5, 2021 |
| Adams-Oliver syndrome 5 | 1 | Apr 7, 2025 |
| Adams-Oliver syndrome 6 | 1 | Nov 5, 2021 |
| Adenine phosphoribosyltransferase deficiency | 2 | Oct 10, 2025 |
| Adenosine kinase deficiency | 2 | Apr 7, 2025 |
| Adenylosuccinate lyase deficiency | 5 | Mar 17, 2026 |
| Adrenoleukodystrophy | 40 | Jun 2, 2026 |
| Adult hypophosphatasia | 1 | Jun 2, 2026 |
| Adult polyglucosan body disease | 2 | Oct 10, 2025 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Apr 7, 2025 |
| Agammaglobulinemia 10, autosomal dominant | 1 | Jun 2, 2026 |
| Agammaglobulinemia 2, autosomal recessive | 1 | May 28, 2022 |
| Agammaglobulinemia 8b, autosomal recessive | 5 | Oct 10, 2025 |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 4 | Jun 2, 2026 |
| Agenesis of the corpus callosum with peripheral neuropathy | 5 | Jun 2, 2026 |
| Agnathia-otocephaly complex | 1 | Oct 10, 2025 |
| Aicardi-Goutieres syndrome 1 | 7 | Jun 2, 2026 |
| Aicardi-Goutieres syndrome 2 | 4 | Jun 2, 2026 |
| Aicardi-Goutieres syndrome 3 | 2 | Jun 2, 2026 |
| Aicardi-Goutieres syndrome 4 | 4 | Sep 4, 2022 |
| Aicardi-Goutieres syndrome 5 | 4 | Jun 2, 2026 |
| Aicardi-Goutieres syndrome 6 | 4 | Jun 2, 2026 |
| Aicardi-Goutieres syndrome 7 | 5 | Jun 2, 2026 |
| Aicardi-Goutieres syndrome 9 | 3 | Oct 10, 2025 |
| Al Kaissi syndrome | 3 | Jun 2, 2026 |
| Alacrima, achalasia, and intellectual disability syndrome | 2 | Oct 10, 2025 |
| Alagille syndrome due to a JAG1 point mutation | 30 | Jun 2, 2026 |
| Alagille syndrome due to a NOTCH2 point mutation | 4 | Jun 2, 2026 |
| Aland island eye disease | 1 | Apr 7, 2025 |
| Alexander disease | 13 | Jun 2, 2026 |
| Alkaline ceramidase 3 deficiency | 1 | Jun 2, 2026 |
| Alkaptonuria | 5 | Jun 2, 2026 |
| Alkuraya-Kucinskas syndrome | 1 | Jun 2, 2026 |
| Allan-Herndon-Dudley syndrome | 14 | Jun 2, 2026 |
| Alopecia universalis congenita | 4 | Jun 2, 2026 |
| Alopecia-intellectual disability syndrome 4 | 2 | Jul 4, 2025 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 8 | Oct 10, 2025 |
| Alpha-1-antitrypsin deficiency | 3 | Jun 2, 2026 |
| Alport syndrome 3b, autosomal recessive | 59 | Jun 2, 2026 |
| Alstrom syndrome | 15 | Jun 2, 2026 |
| Alternating hemiplegia of childhood 1 | 1 | Oct 10, 2025 |
| Alternating hemiplegia of childhood 2 | 9 | Jun 2, 2026 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 2 | Mar 17, 2026 |
| Alzheimer disease 2 | 1 | Jun 2, 2026 |
| Alzheimer disease 3 | 8 | Jun 2, 2026 |
| Alzheimer disease 9 | 3 | Jun 2, 2026 |
| Alzheimer disease type 1 | 2 | Jun 2, 2026 |
| Amelocerebrohypohidrotic syndrome | 3 | Apr 7, 2025 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 | Mar 9, 2023 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 2 | Apr 7, 2025 |
| Amyloidosis, hereditary systemic 1 | 10 | Jun 2, 2026 |
| Amyotrophic lateral sclerosis type 1 | 16 | Jun 26, 2026 |
| Amyotrophic lateral sclerosis type 10 | 5 | Jun 2, 2026 |
| Amyotrophic lateral sclerosis type 12 | 3 | Jun 2, 2026 |
| Amyotrophic lateral sclerosis type 19 | 1 | Jun 2, 2026 |
| Amyotrophic lateral sclerosis type 2, juvenile | 7 | Jun 2, 2026 |
| Amyotrophic lateral sclerosis type 23 | 1 | Mar 17, 2026 |
| Amyotrophic lateral sclerosis type 4 | 1 | Apr 7, 2025 |
| Amyotrophic lateral sclerosis type 5 | 3 | Oct 10, 2025 |
| Amyotrophic lateral sclerosis type 6 | 4 | Jun 2, 2026 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 3 | Jun 2, 2026 |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 1 | Jun 2, 2026 |
| Analbuminemia | 1 | Oct 10, 2025 |
| Anauxetic dysplasia 1 | 2 | Jan 22, 2026 |
| Andersen Tawil syndrome | 4 | Jun 2, 2026 |
| Androgen resistance syndrome | 17 | Jun 2, 2026 |
| Anemia, congenital dyserythropoietic, type 1a | 2 | Oct 10, 2025 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 14 | Jun 2, 2026 |
| Aneurysm, intracranial berry, 12 | 1 | Mar 9, 2023 |
| Aneurysm-osteoarthritis syndrome | 3 | Jun 2, 2026 |
| Angelman syndrome | 20 | Jun 2, 2026 |
| Angioedema, hereditary, 7 | 1 | Jun 2, 2026 |
| Aniridia 1 | 10 | Jun 2, 2026 |
| Annular epidermolytic ichthyosis | 1 | Sep 4, 2022 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 6 | Jun 2, 2026 |
| Anterior segment dysgenesis 1 | 1 | Oct 10, 2025 |
| Anterior segment dysgenesis 3 | 6 | Jun 2, 2026 |
| Anterior segment dysgenesis 4 | 1 | Apr 7, 2025 |
| Anterior segment dysgenesis 6 | 1 | Oct 10, 2025 |
| Anterior segment dysgenesis 7 | 1 | Jan 11, 2022 |
| Anterior segment dysgenesis 8 | 4 | Jun 2, 2026 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 4 | Jun 2, 2026 |
| Aortic aneurysm, familial thoracic 10 | 1 | Jun 2, 2026 |
| Aortic aneurysm, familial thoracic 12 | 1 | Jun 2, 2026 |
| Aortic aneurysm, familial thoracic 4 | 1 | May 28, 2022 |
| Aortic aneurysm, familial thoracic 8 | 1 | Oct 10, 2025 |
| Aortic aneurysm, familial thoracic 9 | 1 | Jun 2, 2026 |
| Aortic valve disease 1 | 4 | Jun 2, 2026 |
| Aortic valve disease 2 | 1 | Mar 9, 2023 |
| Aortic valve disease 3 | 1 | Jan 11, 2022 |
| Aplasia cutis-enamel dysplasia syndrome | 1 | Oct 10, 2025 |
| Apparent mineralocorticoid excess | 2 | Oct 10, 2025 |
| Arginase deficiency | 8 | Jun 2, 2026 |
| Argininosuccinate lyase deficiency | 10 | Jun 2, 2026 |
| Armfield syndrome | 1 | Mar 9, 2023 |
| Aromatase deficiency | 3 | Apr 7, 2025 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 2 | Jun 2, 2026 |
| Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | 1 | Oct 10, 2025 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 | Oct 10, 2025 |
| Arrhythmogenic right ventricular dysplasia 10 | 4 | Oct 10, 2025 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | Apr 7, 2025 |
| Arrhythmogenic right ventricular dysplasia 5 | 2 | Oct 10, 2025 |
| Arrhythmogenic right ventricular dysplasia 8 | 9 | Jun 2, 2026 |
| Arrhythmogenic right ventricular dysplasia 9 | 3 | Jun 2, 2026 |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 1 | Jun 2, 2026 |
| Arterial calcification, generalized, of infancy, 2 | 2 | Mar 17, 2026 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 4 | Jun 2, 2026 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | Oct 10, 2025 |
| Arthrogryposis multiplex congenita 6 | 2 | May 28, 2022 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 1 | Jul 18, 2023 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 1 | Sep 4, 2022 |
| Arthrogryposis, distal, type 1A | 2 | Jun 2, 2026 |
| Arthrogryposis, distal, type 1B | 1 | Jul 4, 2025 |
| Arthrogryposis, distal, type 2B2 | 2 | Jun 2, 2026 |
| Arthrogryposis, distal, type 2B3 | 2 | Apr 7, 2025 |
| Arthrogryposis, distal, with impaired proprioception and touch | 9 | Jun 2, 2026 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 9 | Jun 2, 2026 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 3 | Jun 2, 2026 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Oct 10, 2025 |
| Arts syndrome | 1 | Jun 22, 2023 |
| Aspartylglucosaminuria | 3 | Jun 2, 2026 |
| Asphyxiating thoracic dystrophy 3 | 29 | Jun 2, 2026 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 11 | Oct 10, 2025 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 5 | Jun 2, 2026 |
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | 3 | Jun 2, 2026 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 1 | Jan 11, 2022 |
| Ataxia-pancytopenia syndrome | 5 | Oct 10, 2025 |
| Ataxia-telangiectasia syndrome | 63 | Jun 2, 2026 |
| Ataxia-telangiectasia-like disorder 1 | 1 | Apr 7, 2025 |
| Atelis syndrome 2 | 1 | Jun 2, 2026 |
| Atelosteogenesis type I | 2 | Apr 7, 2025 |
| Atelosteogenesis type III | 1 | Jul 18, 2023 |
| Atrial conduction disease | 1 | Apr 7, 2025 |
| Atrial fibrillation, familial, 18 | 1 | Jun 2, 2026 |
| Atrial fibrillation, familial, 3 | 1 | May 28, 2022 |
| Atrial septal defect 5 | 1 | Mar 25, 2022 |
| Atrioventricular septal defect, susceptibility to, 2 | 1 | Apr 7, 2025 |
| Atrophia bulborum hereditaria | 5 | Jun 2, 2026 |
| Atypical glycine encephalopathy | 1 | Apr 7, 2025 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Jun 2, 2026 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 3 | Jun 2, 2026 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 4 | Jun 2, 2026 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 7 | Jun 2, 2026 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 | Jun 2, 2026 |
| Au-Kline syndrome | 14 | Mar 17, 2026 |
| Auditory neuropathy, autosomal dominant 3 | 1 | Mar 9, 2023 |
| Auditory neuropathy-optic atrophy syndrome | 5 | Oct 10, 2025 |
| Aural atresia, congenital | 1 | Oct 10, 2025 |
| Auriculocondylar syndrome 1 | 2 | Jun 2, 2026 |
| Auriculocondylar syndrome 2 | 2 | May 28, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 12 | Jun 2, 2026 |
| Autism, susceptibility to, 17 | 4 | Jun 2, 2026 |
| Autism, susceptibility to, X-linked 1 | 1 | Oct 10, 2025 |
| Autism, susceptibility to, X-linked 2 | 1 | Jun 2, 2026 |
| Autism, susceptibility to, X-linked 3 | 1 | Apr 7, 2025 |
| Autism, susceptibility to, X-linked 4 | 3 | Oct 10, 2025 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 7 | Jun 2, 2026 |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 | Mar 25, 2022 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 3 | Mar 17, 2026 |
| Autoimmune lymphoproliferative syndrome type 1 | 2 | Oct 10, 2025 |
| Autoimmune lymphoproliferative syndrome type 4 | 4 | Jun 2, 2026 |
| Autoinflammation and autoimmunity with immune dysregulation 1 | 4 | Jun 2, 2026 |
| Autoinflammation with arthritis and dyskeratosis | 4 | Oct 10, 2025 |
| Autoinflammation with arthritis and vasculitis | 1 | Jun 2, 2026 |
| Autoinflammation, immune dysregulation, and eosinophilia | 2 | Oct 10, 2025 |
| Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | 3 | Jun 2, 2026 |
| Autoinflammatory syndrome with immunodeficiency | 4 | Jun 2, 2026 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 4 | Jun 2, 2026 |
| Autosomal dominant Alport syndrome | 4 | Oct 10, 2025 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 | Sep 4, 2022 |
| Autosomal dominant Kenny-Caffey syndrome | 6 | Jun 2, 2026 |
| Autosomal dominant Parkinson disease 1 | 1 | Sep 4, 2022 |
| Autosomal dominant Parkinson disease 8 | 3 | Jun 2, 2026 |
| Autosomal dominant Robinow syndrome 1 | 2 | Jun 2, 2026 |
| Autosomal dominant Robinow syndrome 2 | 2 | Oct 10, 2025 |
| Autosomal dominant Robinow syndrome 3 | 2 | Apr 7, 2025 |
| Autosomal dominant aplasia and myelodysplasia | 2 | Mar 17, 2026 |
| Autosomal dominant centronuclear myopathy | 5 | Jun 2, 2026 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Sep 4, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 3 | Apr 7, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 7 | Jun 2, 2026 |
| Autosomal dominant distal renal tubular acidosis | 4 | Jun 2, 2026 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 2 | Apr 7, 2025 |
| Autosomal dominant hypocalcemia 1 | 3 | Oct 10, 2025 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 18 | Jun 2, 2026 |
| Autosomal dominant isolated somatotropin deficiency | 2 | Apr 7, 2025 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 | Oct 10, 2025 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Jun 2, 2026 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 2 | Jun 2, 2026 |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 1 | Jun 2, 2026 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 1 | Oct 10, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 1 | 1 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 10 | 2 | Apr 7, 2025 |
| Autosomal dominant nonsyndromic hearing loss 11 | 3 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 12 | 5 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | May 28, 2022 |
| Autosomal dominant nonsyndromic hearing loss 15 | 3 | Sep 4, 2022 |
| Autosomal dominant nonsyndromic hearing loss 20 | 7 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 21 | 1 | Oct 10, 2025 |
| Autosomal dominant nonsyndromic hearing loss 22 | 3 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 23 | 2 | May 28, 2022 |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 | Oct 10, 2025 |
| Autosomal dominant nonsyndromic hearing loss 27 | 1 | Sep 26, 2024 |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 | Jan 11, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 2 | Sep 4, 2022 |
| Autosomal dominant nonsyndromic hearing loss 41 | 2 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 44 | 1 | Oct 10, 2025 |
| Autosomal dominant nonsyndromic hearing loss 4A | 1 | Apr 7, 2025 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | Mar 25, 2022 |
| Autosomal dominant nonsyndromic hearing loss 6 | 4 | Jun 2, 2026 |
| Autosomal dominant nonsyndromic hearing loss 67 | 1 | Oct 10, 2025 |
| Autosomal dominant nonsyndromic hearing loss 69 | 1 | Sep 4, 2022 |
| Autosomal dominant nonsyndromic hearing loss 7 | 2 | Sep 4, 2022 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Jan 11, 2022 |
| Autosomal dominant optic atrophy classic form | 10 | Jun 2, 2026 |
| Autosomal dominant sensory ataxia 1 | 1 | Oct 10, 2025 |
| Autosomal dominant striatal neurodegeneration type 1 | 1 | Jun 2, 2026 |
| Autosomal dominant vitreoretinochoroidopathy | 2 | Sep 4, 2022 |
| Autosomal recessive Alport syndrome | 100 | Jun 2, 2026 |
| Autosomal recessive DOPA responsive dystonia | 14 | Jun 2, 2026 |
| Autosomal recessive Parkinson disease 14 | 3 | Oct 10, 2025 |
| Autosomal recessive Robinow syndrome | 4 | Jun 2, 2026 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 7 | Jun 2, 2026 |
| Autosomal recessive ataxia, Beauce type | 4 | Oct 10, 2025 |
| Autosomal recessive axonal neuropathy with neuromyotonia | 2 | Jun 2, 2026 |
| Autosomal recessive bestrophinopathy | 16 | Oct 10, 2025 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 5 | Oct 10, 2025 |
| Autosomal recessive complex spastic paraplegia type 9B | 5 | Jun 2, 2026 |
| Autosomal recessive congenital ichthyosis 1 | 17 | Jun 2, 2026 |
| Autosomal recessive congenital ichthyosis 10 | 4 | Jun 2, 2026 |
| Autosomal recessive congenital ichthyosis 2 | 4 | Apr 7, 2025 |
| Autosomal recessive congenital ichthyosis 3 | 2 | Oct 10, 2025 |
| Autosomal recessive congenital ichthyosis 4A | 6 | Oct 10, 2025 |
| Autosomal recessive congenital ichthyosis 4B | 2 | Jun 2, 2026 |
| Autosomal recessive congenital ichthyosis 5 | 2 | Mar 9, 2023 |
| Autosomal recessive congenital ichthyosis 6 | 1 | Apr 7, 2025 |
| Autosomal recessive cutis laxa type 2B | 2 | Mar 25, 2022 |
| Autosomal recessive distal spinal muscular atrophy 1 | 9 | Jul 1, 2026 |
| Autosomal recessive early-onset Parkinson disease 6 | 1 | Oct 10, 2025 |
| Autosomal recessive hypophosphatemic bone disease | 4 | Oct 10, 2025 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 11 | Jun 2, 2026 |
| Autosomal recessive juvenile Parkinson disease 2 | 1 | May 28, 2022 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 2 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 44 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 18 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 9 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 12 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 8 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 3 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 21 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 | Jan 11, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 6 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Jan 11, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 6 | Jun 2, 2026 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 | Oct 10, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 3 | Apr 7, 2025 |
| Autosomal recessive multiple pterygium syndrome | 8 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 101 | 1 | Apr 7, 2025 |
| Autosomal recessive nonsyndromic hearing loss 12 | 25 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 124 | 2 | Oct 10, 2025 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 16 | 4 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 18A | 2 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18B | 7 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 1A | 21 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 2 | 4 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 21 | 6 | Oct 10, 2025 |
| Autosomal recessive nonsyndromic hearing loss 22 | 3 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 23 | 2 | Mar 25, 2022 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | Jan 11, 2022 |
| Autosomal recessive nonsyndromic hearing loss 28 | 6 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 3 | 25 | Oct 10, 2025 |
| Autosomal recessive nonsyndromic hearing loss 30 | 4 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 | Sep 26, 2024 |
| Autosomal recessive nonsyndromic hearing loss 35 | 2 | Jul 4, 2025 |
| Autosomal recessive nonsyndromic hearing loss 36 | 3 | Oct 10, 2025 |
| Autosomal recessive nonsyndromic hearing loss 37 | 4 | Apr 7, 2025 |
| Autosomal recessive nonsyndromic hearing loss 4 | 18 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 42 | 3 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 49 | 2 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 53 | 2 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 | Jul 18, 2023 |
| Autosomal recessive nonsyndromic hearing loss 6 | 1 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 63 | 5 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 7 | 7 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 77 | 12 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 8 | 7 | May 26, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 | Oct 10, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84B | 4 | Jun 2, 2026 |
| Autosomal recessive nonsyndromic hearing loss 89 | 2 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Jul 18, 2023 |
| Autosomal recessive optic atrophy, OPA7 type | 2 | Oct 10, 2025 |
| Autosomal recessive osteopetrosis 1 | 18 | Jun 2, 2026 |
| Autosomal recessive osteopetrosis 2 | 1 | Mar 25, 2022 |
| Autosomal recessive osteopetrosis 4 | 8 | Jun 2, 2026 |
| Autosomal recessive osteopetrosis 5 | 1 | Jun 2, 2026 |
| Autosomal recessive osteopetrosis 7 | 3 | Jun 2, 2026 |
| Autosomal recessive osteopetrosis 8 | 1 | Jun 2, 2026 |
| Autosomal recessive proximal renal tubular acidosis | 2 | Jun 2, 2026 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 5 | Jun 2, 2026 |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 | Sep 26, 2024 |
| Autosomal recessive spastic paraplegia type 76 | 8 | Jun 2, 2026 |
| Autosomal recessive spastic paraplegia type 78 | 2 | Sep 26, 2024 |
| Autosomal recessive spinocerebellar ataxia 10 | 4 | Jun 2, 2026 |
| Autosomal recessive spinocerebellar ataxia 13 | 1 | Jul 18, 2023 |
| Autosomal recessive spinocerebellar ataxia 14 | 2 | Mar 9, 2023 |
| Autosomal recessive spinocerebellar ataxia 16 | 4 | Jun 2, 2026 |
| Autosomal recessive spinocerebellar ataxia 17 | 6 | Jun 2, 2026 |
| Autosomal recessive spinocerebellar ataxia 18 | 3 | Jun 2, 2026 |
| Autosomal recessive spinocerebellar ataxia 2 | 4 | Jun 2, 2026 |
| Autosomal recessive spinocerebellar ataxia 20 | 5 | Jun 2, 2026 |
| Autosomal systemic lupus erythematosus type 16 | 2 | Mar 9, 2023 |
| Avellino corneal dystrophy | 1 | Oct 10, 2025 |
| Axenfeld-Rieger syndrome type 1 | 1 | Oct 10, 2025 |
| Axenfeld-Rieger syndrome type 3 | 7 | Jun 2, 2026 |
| Ayme-Gripp syndrome | 4 | Jun 2, 2026 |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 1 | Apr 7, 2025 |
| B4GALT1-congenital disorder of glycosylation | 1 | Oct 10, 2025 |
| B9D1-related disorder | 1 | Jun 2, 2026 |
| BAZ2B-related disorder | 1 | Jun 2, 2026 |
| BBS2-related disorder | 1 | Jun 2, 2026 |
| BCL11B-related disorder | 1 | Jun 2, 2026 |
| BCS1L-related disorder | 2 | Jun 2, 2026 |
| BENTA disease | 1 | Oct 10, 2025 |
| BEST1-related disorder | 5 | Jun 2, 2026 |
| BICD2-related Autosomal recessive Cohen Like syndrome | 1 | Apr 7, 2025 |
| BMAL1-related disorder | 1 | Jun 2, 2026 |
| BNAR syndrome | 2 | Sep 26, 2024 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 5 | Jun 2, 2026 |
| BORCS5-related disorder | 1 | Oct 10, 2025 |
| BRAF-related disorder | 9 | Jun 2, 2026 |
| BRAT1-related disorder | 4 | Jun 2, 2026 |
| BRCA2-related disorder | 1 | Oct 10, 2025 |
| BRSK2-related disorder | 2 | Jun 2, 2026 |
| BRSK2-related neurodevelopmental disorder | 1 | Oct 10, 2025 |
| BSN-related disorder | 2 | Jun 2, 2026 |
| Bailey-Bloch congenital myopathy | 3 | Jun 2, 2026 |
| Baller-Gerold syndrome | 3 | Oct 10, 2025 |
| Baraitser-Winter syndrome 1 | 9 | Jun 2, 2026 |
| Baraitser-winter syndrome 2 | 7 | Jun 2, 2026 |
| Barber-Say syndrome | 1 | Oct 10, 2025 |
| Bardet-Biedl syndrome | 1 | Jul 4, 2025 |
| Bardet-Biedl syndrome 1 | 11 | Jun 2, 2026 |
| Bardet-Biedl syndrome 10 | 11 | Jun 2, 2026 |
| Bardet-Biedl syndrome 12 | 3 | Oct 10, 2025 |
| Bardet-Biedl syndrome 16 | 1 | May 28, 2022 |
| Bardet-Biedl syndrome 17 | 1 | Jan 11, 2022 |
| Bardet-Biedl syndrome 19 | 1 | Sep 26, 2024 |
| Bardet-Biedl syndrome 2 | 3 | Jun 2, 2026 |
| Bardet-Biedl syndrome 22 | 3 | Jun 2, 2026 |
| Bardet-Biedl syndrome 3 | 1 | Jun 2, 2026 |
| Bardet-Biedl syndrome 4 | 1 | Sep 26, 2024 |
| Bardet-Biedl syndrome 5 | 2 | Jan 11, 2022 |
| Bardet-Biedl syndrome 6 | 4 | Apr 7, 2025 |
| Bardet-Biedl syndrome 7 | 7 | Jun 2, 2026 |
| Bardet-Biedl syndrome 9 | 2 | Apr 7, 2025 |
| Bartter disease type 1 | 11 | Oct 10, 2025 |
| Bartter disease type 2 | 4 | Oct 10, 2025 |
| Bartter disease type 3 | 10 | Oct 10, 2025 |
| Bartter disease type 4A | 1 | May 28, 2022 |
| Basal cell nevus syndrome 1 | 8 | Jun 2, 2026 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 5 | Sep 26, 2024 |
| Basilicata-Akhtar syndrome | 3 | Jun 2, 2026 |
| Beck-Fahrner syndrome | 4 | Jun 2, 2026 |
| Becker muscular dystrophy | 7 | Jun 2, 2026 |
| Beckwith-Wiedemann syndrome | 5 | Jun 2, 2026 |
| Benign concentric annular macular dystrophy | 2 | Jun 2, 2026 |
| Benign familial hematuria | 5 | Jul 18, 2023 |
| Benign hereditary chorea | 3 | Jun 2, 2026 |
| Benign recurrent intrahepatic cholestasis type 1 | 2 | Sep 26, 2024 |
| Benign recurrent intrahepatic cholestasis type 2 | 6 | Jun 2, 2026 |
| Bernard Soulier syndrome | 4 | Jun 2, 2026 |
| Beta-D-mannosidosis | 3 | Sep 26, 2024 |
| Beta-thalassemia HBB/LCRB | 19 | Jul 10, 2026 |
| Bethlem myopathy 1A | 27 | Jun 2, 2026 |
| Bethlem myopathy 1B | 5 | Jun 2, 2026 |
| Bethlem myopathy 1C | 1 | Jun 2, 2026 |
| Bethlem myopathy 2 | 9 | Jun 2, 2026 |
| Bietti crystalline corneoretinal dystrophy | 10 | Jun 2, 2026 |
| Bifunctional peroxisomal enzyme deficiency | 10 | Jun 2, 2026 |
| Bilateral frontoparietal polymicrogyria | 6 | Jun 2, 2026 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Apr 7, 2025 |
| Bile acid malabsorption, primary, 1 | 2 | Sep 4, 2022 |
| Biliary, renal, neurologic, and skeletal syndrome | 2 | Jun 2, 2026 |
| Biotin-responsive basal ganglia disease | 6 | Jun 2, 2026 |
| Biotinidase deficiency | 13 | Jun 2, 2026 |
| Birk-Barel syndrome | 4 | Jun 2, 2026 |
| Birt-Hogg-Dube syndrome 1 | 2 | Jun 2, 2026 |
| Blau syndrome | 3 | Jun 2, 2026 |
| Blepharocheilodontic syndrome 2 | 3 | Oct 10, 2025 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 3 | Oct 10, 2025 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 9 | Jun 2, 2026 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 9 | Jun 2, 2026 |
| Blepharophimosis-impaired intellectual development syndrome | 4 | Jun 2, 2026 |
| Bloom syndrome | 6 | Oct 10, 2025 |
| Bohring-Opitz syndrome | 12 | Jun 2, 2026 |
| Bone fragility with contractures, arterial rupture, and deafness | 1 | Jun 2, 2026 |
| Bone marrow failure and diabetes mellitus syndrome | 1 | Jul 4, 2025 |
| Bone marrow failure syndrome 3 | 4 | Jun 2, 2026 |
| Bone marrow failure syndrome 5 | 1 | Jun 2, 2026 |
| Bone marrow failure syndrome 6 | 1 | Jan 11, 2022 |
| Bone mineral density quantitative trait locus 18 | 3 | Jun 2, 2026 |
| Borjeson-Forssman-Lehmann syndrome | 4 | Jun 2, 2026 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 12 | Jun 2, 2026 |
| Bothnia retinal dystrophy | 2 | Apr 7, 2025 |
| Boudin-Mortier syndrome | 1 | Jun 2, 2026 |
| Brachydactyly type A1 | 2 | Oct 10, 2025 |
| Brachydactyly type B1 | 2 | Oct 10, 2025 |
| Brachydactyly-arterial hypertension syndrome | 2 | Jun 2, 2026 |
| Brachyolmia-amelogenesis imperfecta syndrome | 3 | Jun 2, 2026 |
| Brain dopamine-serotonin vesicular transport disease | 4 | Jun 2, 2026 |
| Brain malformations with or without urinary tract defects | 4 | Jun 2, 2026 |
| Brain small vessel disease 1 with or without ocular anomalies | 25 | Jun 2, 2026 |
| Brain small vessel disease 2A, autosomal dominant | 9 | Jun 2, 2026 |
| Brain small vessel disease 2B, autosomal recessive | 1 | Jun 2, 2026 |
| Brain-lung-thyroid syndrome | 3 | Mar 9, 2023 |
| Branchiooculofacial syndrome | 4 | Oct 10, 2025 |
| Branchiootic syndrome 1 | 2 | Jun 2, 2026 |
| Branchiootic syndrome 3 | 2 | Oct 10, 2025 |
| Branchiootorenal syndrome 1 | 1 | Jun 2, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 8 | Jun 2, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 9 | Jun 2, 2026 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 1 | Oct 10, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 4 | Oct 10, 2025 |
| Brittle cornea syndrome 1 | 1 | Jun 2, 2026 |
| Brittle cornea syndrome 2 | 1 | Jun 2, 2026 |
| Brody myopathy | 1 | Mar 9, 2023 |
| Bronchiectasis and nasal polyposis | 5 | Jun 2, 2026 |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 | Oct 10, 2025 |
| Bronchiectasis with or without elevated sweat chloride 3 | 1 | Oct 10, 2025 |
| Brown-Vialetto-van Laere syndrome 1 | 1 | Jun 2, 2026 |
| Brown-Vialetto-van Laere syndrome 2 | 2 | Apr 7, 2025 |
| Bruck syndrome 1 | 4 | Oct 10, 2025 |
| Bruck syndrome 2 | 5 | Oct 10, 2025 |
| Brugada syndrome 1 | 5 | Oct 10, 2025 |
| Brugada syndrome 5 | 1 | Jun 2, 2026 |
| Brugada syndrome 8 | 1 | Jun 2, 2026 |
| Brugada syndrome 9 | 1 | Oct 10, 2025 |
| Brunet-Wagner neurodevelopmental syndrome | 2 | Jun 2, 2026 |
| Brunner syndrome | 2 | Jun 2, 2026 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 6 | Jun 2, 2026 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 6 | Jun 2, 2026 |
| C19orf44-related disorder | 1 | Jun 2, 2026 |
| C3 glomerulonephritis | 2 | Jun 2, 2026 |
| CACNA1A-related disorder | 7 | Jun 2, 2026 |
| CACNA1C-related disorder | 2 | Oct 10, 2025 |
| CACNA1F-related disorder | 5 | Jun 2, 2026 |
| CACNA1G-related disorder | 1 | Jun 2, 2026 |
| CACNA1H-related disorder | 1 | Oct 10, 2025 |
| CAMK2D-related disorder | 1 | Jun 2, 2026 |
| CAMK4-related disorder | 1 | Jun 2, 2026 |
| CASR-related disorder | 1 | Oct 10, 2025 |
| CAV3-related disorder | 1 | Jun 2, 2026 |
| CBL-related disorder | 7 | Jun 2, 2026 |
| CC2D2A-related disorder | 4 | Jun 2, 2026 |
| CCDC186-related disorder | 1 | Oct 10, 2025 |
| CCDC82-related disorder | 1 | Jun 2, 2026 |
| CDC42-related disorder | 1 | Jun 2, 2026 |
| CDC42BPB-related disorder | 1 | Mar 25, 2022 |
| CDH23-related disorder | 4 | Jun 2, 2026 |
| CDK9-related disorder | 1 | Jun 2, 2026 |
| CDKL2-related disorder | 1 | Jun 2, 2026 |
| CDKN2A-related disorder | 1 | Jun 2, 2026 |
| CEBALID syndrome | 6 | Jun 2, 2026 |
| CELF4-related disorder | 1 | Jun 2, 2026 |
| CEP290-related disorder | 6 | Jun 2, 2026 |
| CEP76-related disorder | 1 | Jun 2, 2026 |
| CFH-related disorder | 1 | Oct 10, 2025 |
| CFTR-related disorder | 1 | Jun 2, 2026 |
| CHARGE syndrome | 64 | Oct 10, 2025 |
| CHD6-related disorder | 2 | Jun 2, 2026 |
| CHD6-related neurodevelopmental disorder | 1 | Oct 10, 2025 |
| CHD7-related CHARGE syndrome | 25 | Jun 2, 2026 |
| CHD7-related disorder | 2 | Jun 2, 2026 |
| CHEK2-related cancer predisposition | 2 | Jun 2, 2026 |
| CHEK2-related disorder | 1 | Jun 2, 2026 |
| CHIME syndrome | 3 | May 28, 2022 |
| CHRM1-related neurodevelopmental disorder | 1 | Mar 17, 2026 |
| CHRNA1-related disorder | 1 | Jun 2, 2026 |
| CHRND-related disorder | 2 | Oct 10, 2025 |
| CHRNE-related disorder | 5 | Jun 2, 2026 |
| CHRNG-related disorder | 2 | Jun 2, 2026 |
| CK syndrome | 1 | Sep 26, 2024 |
| CLAPO syndrome | 1 | Oct 10, 2025 |
| CLCN1-related disorder | 1 | Jun 2, 2026 |
| CLCN5-related disorder | 8 | Jun 2, 2026 |
| CLDN5-related hemiplegia, microcephaly and brain calcification | 1 | Mar 17, 2026 |
| CLN6-related disorder | 2 | Oct 10, 2025 |
| CMIP-related disorder | 1 | Jun 2, 2026 |
| CNKSR1-related disorder | 2 | Jun 2, 2026 |
| CNOT1-related disorder | 1 | Oct 10, 2025 |
| CNOT9-related disorder | 1 | Jun 2, 2026 |
| CNTN6-related disorder | 4 | Jun 2, 2026 |
| CNTNAP1-related disorder | 1 | Oct 10, 2025 |
| CODAS syndrome | 7 | Jun 2, 2026 |
| COG1 congenital disorder of glycosylation | 6 | Jun 2, 2026 |
| COG4-congenital disorder of glycosylation | 3 | Jun 2, 2026 |
| COG5-congenital disorder of glycosylation | 4 | Jun 2, 2026 |
| COG7 congenital disorder of glycosylation | 1 | Sep 4, 2022 |
| COL11A1-related disorder | 4 | Jun 2, 2026 |
| COL11A2-related disorder | 1 | Jun 2, 2026 |
| COL1A1-related disorder | 47 | Jun 2, 2026 |
| COL1A2-related disorder | 19 | Jun 2, 2026 |
| COL2A1-related disorder | 46 | Jun 2, 2026 |
| COL4A1-related disorder | 9 | Jun 2, 2026 |
| COL4A5-related disorder | 1 | Jun 2, 2026 |
| COL6A1-related disorder | 3 | Jun 2, 2026 |
| COL6A2-related disorder | 5 | Jun 2, 2026 |
| COL6A3-related disorder | 2 | Jun 2, 2026 |
| COL7A1-related disorder | 14 | Jun 2, 2026 |
| COMP-related disorder | 5 | Jun 2, 2026 |
| COQ7-related disorder | 2 | Oct 10, 2025 |
| CRB1-related disorder | 8 | Jun 2, 2026 |
| CREBBP-related disorder | 8 | Jun 2, 2026 |
| CRX-related disorder | 1 | Jun 2, 2026 |
| CRYAB-related disorder | 1 | Jun 2, 2026 |
| CRYBB2-related disorder | 1 | Oct 10, 2025 |
| CSDE1-related neurodevelopmental disorder | 2 | Mar 17, 2026 |
| CSMD1-related disorder | 1 | Jun 2, 2026 |
| CSNK1G1-related developmental disorder with autism spectrum disorder | 1 | Apr 7, 2025 |
| CTC1-related disorder | 1 | Jun 2, 2026 |
| CTCF-related neurodevelopmental disorder | 13 | Jun 2, 2026 |
| CTNS-related disorder | 3 | Jun 2, 2026 |
| CTR9-related motor delay and macrocephaly | 1 | Oct 10, 2025 |
| CTSC-related disorder | 1 | Jun 2, 2026 |
| CUBN-related disorder | 5 | Jun 2, 2026 |
| CUL3-related disorder | 1 | Oct 10, 2025 |
| CYP1B1-related disorder | 3 | Jun 2, 2026 |
| Café-au-lait macules with pulmonary stenosis | 1 | Apr 7, 2025 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 11 | Jun 2, 2026 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Oct 10, 2025 |
| Camptomelic dysplasia | 11 | Jun 2, 2026 |
| Camurati-Engelmann disease type 1 | 1 | Oct 10, 2025 |
| Candidiasis, familial, 8 | 2 | Jun 2, 2026 |
| Capillary malformation-arteriovenous malformation 1 | 6 | Jun 2, 2026 |
| Capillary malformation-arteriovenous malformation 2 | 5 | Jun 2, 2026 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 35 | Jun 2, 2026 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 6 | Jun 2, 2026 |
| Cardiac valvular defect, developmental | 2 | Mar 17, 2026 |
| Cardiac valvular dysplasia, X-linked | 1 | Oct 10, 2025 |
| Cardiac, facial, and digital anomalies with developmental delay | 6 | Jun 2, 2026 |
| Cardiac-urogenital syndrome | 7 | Jun 2, 2026 |
| Cardioacrofacial dysplasia 1 | 1 | Oct 10, 2025 |
| Cardioacrofacial dysplasia 2 | 2 | Oct 10, 2025 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 2 | Jun 2, 2026 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 2 | Oct 10, 2025 |
| Cardiofaciocutaneous syndrome 1 | 18 | Jun 2, 2026 |
| Cardiofaciocutaneous syndrome 3 | 7 | Jun 2, 2026 |
| Cardiofaciocutaneous syndrome 4 | 5 | Jun 2, 2026 |
| Cardiomyopathy, dilated, 2D | 2 | Oct 10, 2025 |
| Cardiomyopathy, dilated, 2M | 1 | Jun 2, 2026 |
| Cardiomyopathy, dilated, 2c | 1 | Oct 10, 2025 |
| Cardiomyopathy, dilated, 2j | 1 | Jun 2, 2026 |
| Cardiomyopathy, dilated, 2l | 2 | Jun 2, 2026 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Apr 7, 2025 |
| Cardiomyopathy, familial hypertrophic 27 | 23 | Jun 2, 2026 |
| Cardiomyopathy, familial hypertrophic, 28 | 3 | Jun 2, 2026 |
| Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | 3 | Jul 4, 2025 |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 | Oct 10, 2025 |
| Cardiospondylocarpofacial syndrome | 1 | Apr 7, 2025 |
| Carey-Fineman-Ziter syndrome 2 | 1 | Jun 2, 2026 |
| Carney complex, type 1 | 3 | Jun 2, 2026 |
| Carnitine acylcarnitine translocase deficiency | 2 | Oct 10, 2025 |
| Carnitine palmitoyl transferase 1A deficiency | 5 | Jun 2, 2026 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 4 | Jun 2, 2026 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 4 | Jun 2, 2026 |
| Cataract 1 multiple types | 5 | Jun 2, 2026 |
| Cataract 11 multiple types | 1 | Jun 2, 2026 |
| Cataract 12 multiple types | 1 | Oct 10, 2025 |
| Cataract 13 with adult I phenotype | 1 | May 28, 2022 |
| Cataract 14 multiple types | 1 | Apr 7, 2025 |
| Cataract 15 multiple types | 1 | Jun 2, 2026 |
| Cataract 18 | 2 | Jun 2, 2026 |
| Cataract 19 multiple types | 1 | Oct 10, 2025 |
| Cataract 22 multiple types | 1 | Apr 7, 2025 |
| Cataract 3 multiple types | 1 | May 28, 2022 |
| Cataract 40 | 1 | Oct 10, 2025 |
| Cataract 45 | 2 | Oct 10, 2025 |
| Cataract 5 multiple types | 4 | Oct 10, 2025 |
| Cataract 6 multiple types | 1 | May 28, 2022 |
| Cataract 9 multiple types | 2 | Jun 2, 2026 |
| Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 5 | Jun 2, 2026 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | 1 | Sep 26, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 13 | Jun 2, 2026 |
| Catecholaminergic polymorphic ventricular tachycardia 3 | 1 | Oct 10, 2025 |
| Cayman type cerebellar ataxia | 1 | Oct 10, 2025 |
| Central core myopathy | 23 | Jun 2, 2026 |
| Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | 2 | Oct 10, 2025 |
| Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | 3 | Jun 2, 2026 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 3 | Mar 9, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2 | Oct 10, 2025 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 | Oct 10, 2025 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 10 | Jun 2, 2026 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Jun 2, 2026 |
| Cerebellar ataxia-hypogonadism syndrome | 2 | Sep 26, 2024 |
| Cerebellar atrophy with seizures and variable developmental delay | 7 | Jun 2, 2026 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Sep 26, 2024 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 3 | Sep 26, 2024 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 11 | Jun 2, 2026 |
| Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | 4 | Jun 2, 2026 |
| Cerebellar-facial-dental syndrome | 3 | Mar 9, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 34 | Jun 2, 2026 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 4 | Sep 4, 2022 |
| Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 | 1 | Jun 2, 2026 |
| Cerebral cavernous malformation | 9 | Jun 2, 2026 |
| Cerebral cavernous malformation 2 | 3 | Oct 10, 2025 |
| Cerebral cavernous malformation 3 | 2 | Oct 10, 2025 |
| Cerebral folate transport deficiency | 4 | Jun 2, 2026 |
| Cerebro-costo-mandibular syndrome | 1 | Oct 10, 2025 |
| Cerebrooculofacioskeletal syndrome 1 | 4 | Jun 2, 2026 |
| Cerebrooculofacioskeletal syndrome 2 | 4 | Jun 2, 2026 |
| Cerebrooculofacioskeletal syndrome 3 | 2 | Jun 2, 2026 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 8 | Jun 2, 2026 |
| Cernunnos-XLF deficiency | 2 | Sep 4, 2022 |
| Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 | Oct 10, 2025 |
| Ceroid lipofuscinosis, neuronal, 6A | 7 | Jun 2, 2026 |
| Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 2 | Apr 7, 2025 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 | Jun 2, 2026 |
| Char syndrome | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth Disease, axonal, type 2GG | 2 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 14 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease X-linked recessive 5 | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2C | 3 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2CC | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | May 28, 2022 |
| Charcot-Marie-Tooth disease axonal type 2K | 5 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2L | 1 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2N | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2O | 2 | May 28, 2022 |
| Charcot-Marie-Tooth disease axonal type 2P | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2Q | 1 | Apr 7, 2025 |
| Charcot-Marie-Tooth disease axonal type 2S | 5 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2T | 6 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2U | 1 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease axonal type 2X | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease axonal type 2Z | 4 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate A | 2 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate C | 1 | Jan 11, 2022 |
| Charcot-Marie-Tooth disease recessive intermediate D | 1 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease type 1B | 3 | Apr 7, 2025 |
| Charcot-Marie-Tooth disease type 1E | 2 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease type 1F | 2 | May 28, 2022 |
| Charcot-Marie-Tooth disease type 2A2 | 15 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 2B | 1 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease type 2B2 | 2 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease type 2D | 3 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 2E | 3 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 2I | 1 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 2J | 2 | Apr 7, 2025 |
| Charcot-Marie-Tooth disease type 4A | 7 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 4B1 | 3 | Apr 7, 2025 |
| Charcot-Marie-Tooth disease type 4B2 | 2 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease type 4B3 | 1 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 4C | 11 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease type 4D | 5 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 4F | 5 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 4H | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease type 4J | 1 | Sep 4, 2022 |
| Charcot-Marie-Tooth disease, axonal, IIa 2II | 3 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 6 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 | 1 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 3 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 | Oct 10, 2025 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 2 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 2 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 | Jan 11, 2022 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 4 | Jun 2, 2026 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 1 | Apr 7, 2025 |
| Charcot-Marie-Tooth disease, type IA | 4 | Jun 2, 2026 |
| Charcot-Marie-tooth disease, axonal, type 2DD | 1 | May 28, 2022 |
| Charlevoix-Saguenay spastic ataxia | 30 | Jun 2, 2026 |
| Child syndrome | 1 | Sep 26, 2024 |
| Childhood apraxia of speech | 2 | Jun 2, 2026 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Oct 10, 2025 |
| Childhood onset GLUT1 deficiency syndrome 2 | 6 | Jun 2, 2026 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Jun 2, 2026 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 10 | Jun 2, 2026 |
| Chitayat syndrome | 1 | Mar 25, 2022 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 3 | Oct 10, 2025 |
| Cholestanol storage disease | 13 | Jun 2, 2026 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 | Oct 10, 2025 |
| Cholestasis, progressive familial intrahepatic, 10 | 13 | Jun 2, 2026 |
| Cholestasis, progressive familial intrahepatic, 4 | 6 | Jun 2, 2026 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 10 | Jun 2, 2026 |
| Cholestasis, progressive familial intrahepatic, 8 | 4 | Oct 10, 2025 |
| Cholestasis, progressive familial intrahepatic, 9 | 1 | Jun 2, 2026 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 2 | Jun 2, 2026 |
| Cholesteryl ester storage disease | 1 | Oct 10, 2025 |
| Chondrodysplasia Blomstrand type | 2 | Sep 26, 2024 |
| Chondrodysplasia punctata 2 X-linked dominant | 4 | Jun 2, 2026 |
| Chondrodysplasia with joint dislocations, gPAPP type | 1 | Sep 4, 2022 |
| Chopra-Amiel-Gordon syndrome | 7 | Oct 10, 2025 |
| Choroidal dystrophy, central areolar 2 | 3 | Jun 2, 2026 |
| Choroideremia | 14 | Jun 2, 2026 |
| Christianson syndrome | 11 | Jun 2, 2026 |
| Chromosome 1p32-p31 deletion syndrome | 2 | May 28, 2022 |
| Chromosome 2q32-q33 deletion syndrome | 16 | Jun 2, 2026 |
| Chronic infantile neurological, cutaneous and articular syndrome | 2 | Oct 10, 2025 |
| Chronic myeloid leukemia | 1 | Mar 25, 2022 |
| Chudley-McCullough syndrome | 2 | Sep 26, 2024 |
| Chédiak-Higashi syndrome | 3 | Jun 2, 2026 |
| Ciliary dyskinesia, primary, 36, X-linked | 1 | Sep 4, 2022 |
| Ciliary dyskinesia, primary, 37 | 1 | Oct 10, 2025 |
| Ciliary dyskinesia, primary, 40 | 15 | Jun 2, 2026 |
| Ciliary dyskinesia, primary, 44 | 3 | Jun 2, 2026 |
| Ciliary dyskinesia, primary, 47, and lissencephaly | 1 | Jun 2, 2026 |
| Ciliary dyskinesia, primary, 48, without situs inversus | 1 | Mar 9, 2023 |
| Ciliary dyskinesia, primary, 49, without situs inversus | 1 | Apr 7, 2025 |
| Ciliary dyskinesia, primary, 53 | 1 | Oct 10, 2025 |
| Ciliary dyskinesia, primary, 54 | 1 | Jun 2, 2026 |
| Citrullinemia type I | 13 | Jun 2, 2026 |
| Citrullinemia, type II, adult-onset | 1 | Sep 26, 2024 |
| Clark-Baraitser syndrome | 5 | Jun 2, 2026 |
| Classic homocystinuria | 10 | Jun 2, 2026 |
| Cleidocranial dysostosis | 12 | Jun 2, 2026 |
| Clubfoot | 1 | Jun 2, 2026 |
| Cobalamin C disease | 14 | Jun 2, 2026 |
| Cobblestone lissencephaly without muscular or ocular involvement | 1 | Oct 10, 2025 |
| Cockayne syndrome type 1 | 5 | Jun 2, 2026 |
| Cockayne syndrome type 2 | 8 | Oct 10, 2025 |
| Coenzyme Q10 deficiency, primary, 1 | 1 | Oct 10, 2025 |
| Coenzyme Q10 deficiency, primary, 3 | 1 | Oct 10, 2025 |
| Coenzyme q10 deficiency, primary, 9 | 3 | Jun 2, 2026 |
| Coffin-Lowry syndrome | 14 | Jun 2, 2026 |
| Coffin-Siris syndrome 1 | 71 | Jun 2, 2026 |
| Coffin-Siris syndrome 10 | 5 | Jun 2, 2026 |
| Coffin-Siris syndrome 12 | 4 | Jun 2, 2026 |
| Coffin-Siris syndrome 5 | 1 | Jun 2, 2026 |
| Coffin-Siris syndrome 6 | 15 | Jun 2, 2026 |
| Coffin-Siris syndrome 7 | 2 | Jun 2, 2026 |
| Coffin-Siris syndrome 8 | 6 | Jun 2, 2026 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 | Jun 2, 2026 |
| Cognitive impairment with or without cerebellar ataxia | 5 | Jun 2, 2026 |
| Cohen syndrome | 31 | Jun 2, 2026 |
| Cohen-Gibson syndrome | 2 | Jul 4, 2025 |
| Cold-induced sweating syndrome 1 | 6 | Jun 2, 2026 |
| Cole-Carpenter syndrome 2 | 1 | Oct 10, 2025 |
| Coloboma, ocular, autosomal dominant | 1 | Mar 17, 2026 |
| Colorectal cancer | 5 | Oct 10, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 6 | Jun 2, 2026 |
| Combined deficiency of sialidase AND beta galactosidase | 4 | Jun 2, 2026 |
| Combined immunodeficiency due to DOCK8 deficiency | 3 | Jun 2, 2026 |
| Combined immunodeficiency due to LRBA deficiency | 14 | Oct 10, 2025 |
| Combined immunodeficiency due to MALT1 deficiency | 1 | Mar 25, 2022 |
| Combined immunodeficiency due to ORAI1 deficiency | 1 | Sep 26, 2024 |
| Combined immunodeficiency due to STK4 deficiency | 1 | Mar 9, 2023 |
| Combined malonic and methylmalonic acidemia | 2 | Jun 2, 2026 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 | Apr 7, 2025 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 3 | Jun 2, 2026 |
| Combined oxidative phosphorylation defect type 11 | 2 | Oct 10, 2025 |
| Combined oxidative phosphorylation defect type 13 | 2 | Jul 18, 2023 |
| Combined oxidative phosphorylation defect type 14 | 1 | Mar 9, 2023 |
| Combined oxidative phosphorylation defect type 15 | 1 | Jun 2, 2026 |
| Combined oxidative phosphorylation defect type 17 | 3 | Jun 2, 2026 |
| Combined oxidative phosphorylation defect type 20 | 4 | May 28, 2022 |
| Combined oxidative phosphorylation defect type 21 | 1 | Jun 2, 2026 |
| Combined oxidative phosphorylation defect type 24 | 2 | Jun 2, 2026 |
| Combined oxidative phosphorylation defect type 26 | 1 | Oct 10, 2025 |
| Combined oxidative phosphorylation defect type 27 | 1 | Apr 7, 2025 |
| Combined oxidative phosphorylation defect type 8 | 2 | May 28, 2022 |
| Combined oxidative phosphorylation deficiency 35 | 1 | May 28, 2022 |
| Combined oxidative phosphorylation deficiency 36 | 1 | Oct 10, 2025 |
| Combined oxidative phosphorylation deficiency 39 | 3 | Oct 10, 2025 |
| Combined oxidative phosphorylation deficiency 40 | 1 | Mar 9, 2023 |
| Combined oxidative phosphorylation deficiency 44 | 3 | Jun 2, 2026 |
| Combined oxidative phosphorylation deficiency 51 | 1 | Jun 2, 2026 |
| Combined oxidative phosphorylation deficiency 52 | 1 | Jul 18, 2023 |
| Combined oxidative phosphorylation deficiency 54 | 1 | Sep 4, 2022 |
| Combined oxidative phosphorylation deficiency 55 | 4 | Jun 2, 2026 |
| Combined oxidative phosphorylation deficiency 59 | 2 | Jun 2, 2026 |
| Combined oxidative phosphorylation deficiency 60 | 1 | Jul 4, 2025 |
| Complement component 2 deficiency | 1 | Jun 2, 2026 |
| Complement component 3 deficiency | 5 | Mar 17, 2026 |
| Complement component 4b deficiency | 2 | Jun 2, 2026 |
| Complement component 6 deficiency | 1 | Apr 7, 2025 |
| Complement component 7 deficiency | 2 | Jun 2, 2026 |
| Complement component C1s deficiency | 1 | Sep 4, 2022 |
| Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | 1 | Oct 10, 2025 |
| Complex cortical dysplasia with other brain malformations 1 | 6 | Oct 10, 2025 |
| Complex cortical dysplasia with other brain malformations 2 | 1 | Apr 7, 2025 |
| Complex cortical dysplasia with other brain malformations 4 | 4 | Oct 10, 2025 |
| Complex cortical dysplasia with other brain malformations 5 | 4 | Jun 2, 2026 |
| Complex cortical dysplasia with other brain malformations 6 | 6 | Jun 2, 2026 |
| Complex cortical dysplasia with other brain malformations 7 | 7 | Jun 2, 2026 |
| Cone dystrophy 3 | 6 | Jun 2, 2026 |
| Cone dystrophy 4 | 13 | Oct 10, 2025 |
| Cone dystrophy with supernormal rod response | 3 | Oct 10, 2025 |
| Cone-rod dystrophy 13 | 3 | Jun 2, 2026 |
| Cone-rod dystrophy 15 | 5 | Jun 23, 2026 |
| Cone-rod dystrophy 16 | 4 | Jun 2, 2026 |
| Cone-rod dystrophy 18 | 1 | Apr 7, 2025 |
| Cone-rod dystrophy 19 | 1 | Oct 10, 2025 |
| Cone-rod dystrophy 2 | 9 | Oct 10, 2025 |
| Cone-rod dystrophy 20 | 4 | Jun 2, 2026 |
| Cone-rod dystrophy 21 | 3 | Apr 7, 2025 |
| Cone-rod dystrophy 24 | 1 | Oct 10, 2025 |
| Cone-rod dystrophy 3 | 4 | Apr 7, 2025 |
| Cone-rod dystrophy 6 | 3 | Jun 2, 2026 |
| Cone-rod dystrophy 9 | 1 | Jun 2, 2026 |
| Cone-rod dystrophy and hearing loss 1 | 4 | Jun 26, 2026 |
| Cone-rod synaptic disorder, congenital nonprogressive | 1 | Jun 2, 2026 |
| Congenital absence of salivary gland | 1 | Jul 18, 2023 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 2 | Jun 2, 2026 |
| Congenital adrenal hypoplasia, X-linked | 4 | Jun 2, 2026 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Jun 2, 2026 |
| Congenital afibrinogenemia | 1 | May 28, 2022 |
| Congenital amegakaryocytic thrombocytopenia | 2 | Sep 4, 2022 |
| Congenital amegakaryocytic thrombocytopenia 1 | 4 | Jun 2, 2026 |
| Congenital anomalies of kidney and urinary tract 1 | 1 | Jan 11, 2022 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 5 | Jun 2, 2026 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 3 | Jun 2, 2026 |
| Congenital bile acid synthesis defect 1 | 3 | Jun 2, 2026 |
| Congenital bile acid synthesis defect 2 | 1 | Oct 10, 2025 |
| Congenital bile acid synthesis defect 3 | 1 | Sep 26, 2024 |
| Congenital bile acid synthesis defect 6 | 1 | May 28, 2022 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 2 | Oct 10, 2025 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 2 | Jun 2, 2026 |
| Congenital central hypoventilation | 1 | Jan 11, 2022 |
| Congenital contractural arachnodactyly | 14 | Jun 2, 2026 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 10 | Jun 2, 2026 |
| Congenital defect of folate absorption | 3 | Jun 2, 2026 |
| Congenital diarrhea 5 with tufting enteropathy | 6 | Jun 2, 2026 |
| Congenital diarrhea 6 | 1 | Mar 25, 2022 |
| Congenital diarrhea 7 with exudative enteropathy | 8 | Jun 2, 2026 |
| Congenital disorder of deglycosylation | 1 | Jan 11, 2022 |
| Congenital disorder of deglycosylation 1 | 9 | Jun 2, 2026 |
| Congenital disorder of deglycosylation 2 | 6 | Jun 2, 2026 |
| Congenital disorder of glycosylation type 1E | 3 | Jun 2, 2026 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 2 | May 28, 2022 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 4 | Oct 10, 2025 |
| Congenital disorder of glycosylation, type 2v | 1 | Jun 2, 2026 |
| Congenital disorder of glycosylation, type ICC | 2 | Sep 26, 2024 |
| Congenital disorder of glycosylation, type IIw | 1 | Apr 7, 2025 |
| Congenital disorder of glycosylation, type IIy | 1 | Oct 10, 2025 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 | Jun 2, 2026 |
| Congenital dyserythropoietic anemia, type II | 6 | Jun 2, 2026 |
| Congenital factor V deficiency | 1 | Oct 10, 2025 |
| Congenital factor VII deficiency | 9 | Jun 2, 2026 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Apr 7, 2025 |
| Congenital generalized lipodystrophy type 1 | 5 | Jun 2, 2026 |
| Congenital generalized lipodystrophy type 2 | 1 | May 28, 2022 |
| Congenital glucose-galactose malabsorption | 7 | Jun 2, 2026 |
| Congenital heart defects and skeletal malformations syndrome | 4 | Apr 7, 2025 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 17 | Jun 2, 2026 |
| Congenital heart defects, multiple types, 2 | 7 | Jun 2, 2026 |
| Congenital heart defects, multiple types, 4 | 2 | Apr 7, 2025 |
| Congenital hereditary endothelial dystrophy of cornea | 5 | Jun 2, 2026 |
| Congenital hyperammonemia, type I | 12 | Jun 2, 2026 |
| Congenital hypothalamic hamartoma syndrome | 2 | Oct 10, 2025 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2 | May 10, 2026 |
| Congenital hypotrichosis with juvenile macular dystrophy | 1 | Jun 2, 2026 |
| Congenital insensitivity to pain-hypohidrosis syndrome | 1 | Jun 2, 2026 |
| Congenital isolated adrenocorticotropic hormone deficiency | 1 | May 28, 2022 |
| Congenital lactase deficiency | 2 | Sep 26, 2024 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Sep 26, 2024 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 5 | Jun 2, 2026 |
| Congenital malabsorptive diarrhea 4 | 3 | Apr 7, 2025 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 6 | Jun 2, 2026 |
| Congenital microvillous atrophy | 5 | Oct 10, 2025 |
| Congenital multicore myopathy with external ophthalmoplegia | 45 | Jun 2, 2026 |
| Congenital muscular dystrophy due to LMNA mutation | 5 | Jun 2, 2026 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 3 | Jun 2, 2026 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 2 | Jan 11, 2022 |
| Congenital muscular hypertrophy-cerebral syndrome | 7 | Oct 10, 2025 |
| Congenital myasthenic syndrome 10 | 8 | Jun 2, 2026 |
| Congenital myasthenic syndrome 11 | 2 | Jun 2, 2026 |
| Congenital myasthenic syndrome 12 | 4 | Jun 2, 2026 |
| Congenital myasthenic syndrome 13 | 2 | Jan 11, 2022 |
| Congenital myasthenic syndrome 14 | 1 | Jun 2, 2026 |
| Congenital myasthenic syndrome 17 | 1 | Jun 2, 2026 |
| Congenital myasthenic syndrome 18 | 1 | Jun 2, 2026 |
| Congenital myasthenic syndrome 19 | 1 | Apr 7, 2025 |
| Congenital myasthenic syndrome 1A | 3 | Jun 2, 2026 |
| Congenital myasthenic syndrome 20 | 2 | Oct 10, 2025 |
| Congenital myasthenic syndrome 21 | 1 | Jan 11, 2022 |
| Congenital myasthenic syndrome 2A | 1 | Jun 2, 2026 |
| Congenital myasthenic syndrome 2C | 1 | Jun 2, 2026 |
| Congenital myasthenic syndrome 3A | 1 | Oct 10, 2025 |
| Congenital myasthenic syndrome 3B | 4 | Sep 26, 2024 |
| Congenital myasthenic syndrome 3C | 1 | Sep 26, 2024 |
| Congenital myasthenic syndrome 4A | 4 | Jun 2, 2026 |
| Congenital myasthenic syndrome 4B | 3 | Oct 10, 2025 |
| Congenital myasthenic syndrome 4C | 7 | Jun 2, 2026 |
| Congenital myasthenic syndrome 5 | 9 | Jun 2, 2026 |
| Congenital myasthenic syndrome 7 | 1 | Mar 9, 2023 |
| Congenital myasthenic syndrome 8 | 10 | Jun 2, 2026 |
| Congenital myasthenic syndrome 9 | 4 | Jun 2, 2026 |
| Congenital myopathy 20 | 2 | Oct 10, 2025 |
| Congenital myopathy 22A, classic | 1 | Jun 2, 2026 |
| Congenital myopathy 22B, severe fetal | 2 | Jun 2, 2026 |
| Congenital myopathy 23 | 3 | Jun 2, 2026 |
| Congenital myopathy 26 | 1 | Jun 2, 2026 |
| Congenital myopathy 2b, severe infantile, autosomal recessive | 2 | Oct 10, 2025 |
| Congenital myopathy 2c, severe infantile, autosomal dominant | 3 | Jul 10, 2026 |
| Congenital myopathy 4A, autosomal dominant | 3 | Jun 2, 2026 |
| Congenital myopathy 4B, autosomal recessive | 3 | Jun 2, 2026 |
| Congenital myotonia, autosomal dominant form | 3 | Jun 2, 2026 |
| Congenital myotonia, autosomal recessive form | 24 | Jun 2, 2026 |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 1 | Sep 4, 2022 |
| Congenital nongoitrous hypothyroidism 6 | 1 | Oct 10, 2025 |
| Congenital primary aphakia | 3 | Apr 7, 2025 |
| Congenital reticular ichthyosiform erythroderma | 1 | Mar 9, 2023 |
| Congenital secretory diarrhea, chloride type | 9 | Jun 2, 2026 |
| Congenital secretory sodium diarrhea 3 | 1 | Aug 2, 2024 |
| Congenital secretory sodium diarrhea 8 | 3 | Sep 26, 2024 |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 1 | Apr 7, 2025 |
| Congenital stationary night blindness 1A | 3 | Jun 2, 2026 |
| Congenital stationary night blindness 1B | 5 | Oct 10, 2025 |
| Congenital stationary night blindness 1C | 4 | Jun 2, 2026 |
| Congenital stationary night blindness 1D | 4 | Oct 10, 2025 |
| Congenital stationary night blindness 1E | 7 | Jun 2, 2026 |
| Congenital stationary night blindness 1G | 1 | Jun 2, 2026 |
| Congenital stationary night blindness 2A | 3 | Oct 10, 2025 |
| Congenital stationary night blindness autosomal dominant 1 | 1 | May 28, 2022 |
| Congenital stationary night blindness autosomal dominant 3 | 1 | Jun 2, 2026 |
| Conotruncal heart malformations | 3 | Sep 26, 2024 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 4 | Apr 7, 2025 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 3 | Jun 2, 2026 |
| Cornea plana 2 | 2 | Jun 2, 2026 |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 | Mar 9, 2023 |
| Corneal dystrophy, Meesmann, 1 | 1 | Oct 10, 2025 |
| Cornelia de Lange syndrome 1 | 39 | Jun 2, 2026 |
| Cornelia de Lange syndrome 3 | 14 | Jun 2, 2026 |
| Cornelia de Lange syndrome 4 | 3 | Jun 2, 2026 |
| Cornelia de Lange syndrome 5 | 9 | Jun 2, 2026 |
| Cornelia de Lange syndrome 6 | 3 | Oct 10, 2025 |
| Corpus callosum agenesis-abnormal genitalia syndrome | 1 | Oct 10, 2025 |
| Cortical dysplasia, complex, with other brain malformations 10 | 3 | Jun 2, 2026 |
| Cortical dysplasia, complex, with other brain malformations 9 | 1 | Jun 2, 2026 |
| Cortical dysplasia-focal epilepsy syndrome | 5 | May 26, 2025 |
| Corticosterone 18-monooxygenase deficiency | 1 | Jun 2, 2026 |
| Corticosterone methyloxidase type 2 deficiency | 5 | Mar 9, 2023 |
| Costello syndrome | 5 | Jun 2, 2026 |
| Cowden syndrome 1 | 34 | Jun 2, 2026 |
| Cowden syndrome 5 | 1 | Apr 7, 2025 |
| Cowden syndrome 6 | 1 | Oct 10, 2025 |
| Cowden syndrome 7 | 1 | Oct 10, 2025 |
| Coxopodopatellar syndrome | 2 | Jun 2, 2026 |
| Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | 1 | Oct 10, 2025 |
| Cranioectodermal dysplasia 1 | 4 | Oct 10, 2025 |
| Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | 1 | Jun 2, 2026 |
| Craniofacial microsomia 1 | 1 | Oct 10, 2025 |
| Craniofacial microsomia 2 | 2 | Jun 2, 2026 |
| Craniofaciocardiohepatic syndrome | 2 | Jun 2, 2026 |
| Craniofrontonasal syndrome | 6 | Jun 2, 2026 |
| Craniolenticulosutural dysplasia | 1 | Mar 9, 2023 |
| Craniometaphyseal dysplasia, autosomal dominant | 1 | Oct 10, 2025 |
| Craniosynostosis 4 | 1 | Jun 2, 2026 |
| Craniosynostosis 7 | 1 | Oct 10, 2025 |
| Craniosynostosis and dental anomalies | 1 | Apr 7, 2025 |
| Creatine transporter deficiency | 12 | Jun 2, 2026 |
| Crigler-Najjar syndrome type 1 | 2 | Jun 2, 2026 |
| Crigler-Najjar syndrome, type II | 3 | Mar 9, 2023 |
| Crouzon syndrome | 5 | Jun 2, 2026 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2 | Oct 10, 2025 |
| Currarino triad | 1 | Mar 17, 2026 |
| Cutaneous porphyria | 5 | Oct 10, 2025 |
| Cutis laxa with osteodystrophy | 3 | Jun 2, 2026 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 6 | Jun 2, 2026 |
| Cutis laxa, X-linked | 9 | Sep 26, 2024 |
| Cutis laxa, autosomal dominant 1 | 2 | Jun 2, 2026 |
| Cutis laxa, autosomal dominant 3 | 2 | Mar 9, 2023 |
| Cutis laxa, autosomal recessive, type 1A | 1 | Apr 7, 2025 |
| Cutis laxa, autosomal recessive, type 2E | 2 | Nov 5, 2021 |
| Cyclical neutropenia | 1 | Oct 10, 2025 |
| Cystic disease of lung | 1 | Jun 2, 2026 |
| Cystic fibrosis | 62 | Jul 10, 2026 |
| Cystinuria | 19 | Jun 2, 2026 |
| D-2-hydroxyglutaric aciduria 1 | 1 | Oct 10, 2025 |
| D-2-hydroxyglutaric aciduria 2 | 2 | Jun 2, 2026 |
| DCDC2-related disorder | 1 | Oct 10, 2025 |
| DCLRE1C-related disorder | 1 | Jun 2, 2026 |
| DCTN1-related disorder | 2 | Jun 2, 2026 |
| DDX23-related disorder | 2 | Jun 2, 2026 |
| DE SANCTIS-CACCHIONE SYNDROME | 1 | Oct 10, 2025 |
| DEGCAGS syndrome | 1 | Mar 25, 2022 |
| DENND5B-related neurodevelopmental disorder | 1 | Oct 10, 2025 |
| DIP2C-related disorder | 2 | Jun 2, 2026 |
| DMAP1-related disorder | 2 | Oct 10, 2025 |
| DMD-related disorder | 2 | Jun 2, 2026 |
| DMRT2-related disorder | 1 | Jun 2, 2026 |
| DMXL1-related disorder | 1 | Jun 2, 2026 |
| DNA ligase IV deficiency | 3 | Jun 2, 2026 |
| DNA2-related disorder | 2 | Oct 10, 2025 |
| DNAH6-related disorder | 1 | Jun 2, 2026 |
| DNAJC6-related disorder | 1 | Jun 2, 2026 |
| DNM1-related disorder | 2 | Oct 10, 2025 |
| DNM2-related disorder | 2 | Jun 2, 2026 |
| DNMT1-related disorder | 1 | Oct 10, 2025 |
| DNMT3A-related disorder | 1 | Jun 2, 2026 |
| DOCK1-related disorder | 1 | Jan 11, 2022 |
| DOCK4-related disorder | 3 | Jun 2, 2026 |
| DOORS syndrome | 4 | Jun 2, 2026 |
| DOT1L-related disorder | 2 | Jun 2, 2026 |
| DRD1-related Dystonia | 1 | Jul 4, 2025 |
| DSP-related disorder | 2 | Jun 2, 2026 |
| DSPP-related disorder | 2 | Jun 2, 2026 |
| DYNC1H1-related disorder | 10 | Jun 2, 2026 |
| DYRK1A-related intellectual disability syndrome | 19 | Jun 2, 2026 |
| DYSF-related disorder | 21 | Jun 2, 2026 |
| Dalmatian hypouricemia | 2 | Oct 10, 2025 |
| Danon disease | 5 | Jun 2, 2026 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 12 | Jun 2, 2026 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 3 | Oct 10, 2025 |
| Deafness, X-linked 5 | 1 | Jan 11, 2022 |
| Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 1 | Jun 2, 2026 |
| Deeah syndrome | 1 | Sep 26, 2024 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 3 | Jun 2, 2026 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 18 | Jun 2, 2026 |
| Deficiency of acetyl-CoA acetyltransferase | 7 | Jun 2, 2026 |
| Deficiency of adenosine deaminase 2 | 9 | Jun 2, 2026 |
| Deficiency of alpha-mannosidase | 7 | Jun 2, 2026 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 5 | Jun 2, 2026 |
| Deficiency of beta-ureidopropionase | 2 | Jun 2, 2026 |
| Deficiency of butyryl-CoA dehydrogenase | 6 | Jun 2, 2026 |
| Deficiency of cytochrome-b5 reductase | 5 | Jun 2, 2026 |
| Deficiency of ferroxidase | 2 | Oct 10, 2025 |
| Deficiency of galactokinase | 3 | Apr 7, 2025 |
| Deficiency of guanidinoacetate methyltransferase | 4 | Jun 2, 2026 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 7 | Jun 2, 2026 |
| Deficiency of iodide peroxidase | 13 | Jun 2, 2026 |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 | Jun 2, 2026 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Oct 10, 2025 |
| Deficiency of steroid 11-beta-monooxygenase | 10 | Oct 10, 2025 |
| Deficiency of steroid 17-alpha-monooxygenase | 3 | Jun 2, 2026 |
| Deficiency of transaldolase | 4 | Jun 2, 2026 |
| Dehydrated hereditary stomatocytosis 2 | 1 | Oct 10, 2025 |
| Dejerine-Sottas disease | 5 | Apr 7, 2025 |
| Delpire-McNeill syndrome | 2 | Jun 2, 2026 |
| Dent disease type 1 | 4 | Jun 2, 2026 |
| Dent disease type 2 | 2 | Mar 17, 2026 |
| Dentici-Novelli neurodevelopmental syndrome | 1 | Jun 2, 2026 |
| Dentinogenesis imperfecta type 2 | 4 | Mar 17, 2026 |
| Dermatitis, atopic, 2 | 6 | Jun 2, 2026 |
| Dermatofibrosis lenticularis disseminata | 1 | Jun 2, 2026 |
| Desbuquois dysplasia 1 | 3 | May 28, 2022 |
| Desbuquois dysplasia 2 | 2 | Jun 2, 2026 |
| Desmin-related myofibrillar myopathy | 6 | Oct 10, 2025 |
| Desmoid disease, hereditary | 1 | Sep 26, 2024 |
| Desmosterolosis | 1 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy 100 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 102 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 103 | 7 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 104 | 4 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 105 with hypopituitarism | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 106 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 108 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 111 | 2 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 112 | 4 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 113 | 1 | Apr 7, 2025 |
| Developmental and epileptic encephalopathy 116 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 118 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 6B | 12 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy 91 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 92 | 10 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 93 | 4 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 94 | 20 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 96 | 2 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy 97 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 98 | 7 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy 99 | 4 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 1 | 4 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 11 | 43 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 13 | 33 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 14 | 19 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 15 | 3 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 16 | 6 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 17 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 18 | 7 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 19 | 8 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 2 | 39 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 23 | 5 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 24 | 2 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 25 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 26 | 12 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 27 | 9 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 28 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 29 | 4 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 3 | 6 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 30 | 2 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 31A | 11 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 32 | 8 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 33 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 34 | 1 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy, 35 | 7 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 36 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 37 | 2 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 38 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 39 | 2 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 4 | 32 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 41 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 42 | 19 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 43 | 8 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 44 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 45 | 2 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 46 | 8 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 47 | 1 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 48 | 4 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 49 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 5 | 11 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 50 | 7 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 51 | 3 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 52 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 53 | 4 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 54 | 11 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 55 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 56 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 57 | 6 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 58 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 59 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 60 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 61 | 1 | Apr 7, 2025 |
| Developmental and epileptic encephalopathy, 62 | 11 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 63 | 1 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy, 64 | 8 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 65 | 12 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 66 | 2 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 67 | 1 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 69 | 8 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 7 | 50 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 70 | 4 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 71 | 1 | Mar 25, 2022 |
| Developmental and epileptic encephalopathy, 73 | 2 | Apr 7, 2025 |
| Developmental and epileptic encephalopathy, 74 | 2 | Nov 5, 2021 |
| Developmental and epileptic encephalopathy, 75 | 2 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 76 | 6 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 77 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 78 | 1 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 79 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 8 | 3 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 80 | 1 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 81 | 1 | Apr 7, 2025 |
| Developmental and epileptic encephalopathy, 83 | 1 | Apr 7, 2025 |
| Developmental and epileptic encephalopathy, 84 | 5 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 9 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 87 | 2 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy, 9 | 17 | Jun 2, 2026 |
| Developmental and epileptic encephalopathy, 90 | 1 | Oct 10, 2025 |
| Developmental and epileptic encephalopathy-107 | 1 | May 26, 2025 |
| Developmental delay and seizures with or without movement abnormalities | 7 | Jun 2, 2026 |
| Developmental delay with autism spectrum disorder and gait instability | 6 | Jun 2, 2026 |
| Developmental delay with dysmorphic facies and dental anomalies | 2 | Jun 2, 2026 |
| Developmental delay with hypotonia, myopathy, and brain abnormalities | 2 | Oct 10, 2025 |
| Developmental delay with or without dysmorphic facies and autism | 18 | Jun 2, 2026 |
| Developmental delay with or without epilepsy | 6 | Oct 10, 2025 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 13 | Jun 2, 2026 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 | May 28, 2022 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | 1 | Jun 2, 2026 |
| Developmental delay with variable intellectual disability and dysmorphic facies | 5 | Jun 2, 2026 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 8 | Jun 2, 2026 |
| Developmental delay with variable neurologic and brain abnormalities | 2 | Jun 2, 2026 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 6 | Jun 2, 2026 |
| Developmental delay, dysmorphic facies, and brain anomalies | 2 | Jun 2, 2026 |
| Developmental delay, hypotonia, and impaired language | 6 | Jun 2, 2026 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 3 | Jun 2, 2026 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 8 | Jun 2, 2026 |
| Developmental delay, impaired speech, and behavioral abnormalities | 16 | Jun 2, 2026 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 7 | Jun 2, 2026 |
| Developmental delay, language impairment, and ocular abnormalities | 1 | Jun 2, 2026 |
| DiGeorge syndrome | 7 | Oct 15, 2025 |
| Diabetes insipidus, nephrogenic, X-linked | 9 | Jun 2, 2026 |
| Diabetes insipidus, nephrogenic, autosomal | 5 | Oct 10, 2025 |
| Diabetes mellitus, permanent neonatal 2 | 2 | Jun 2, 2026 |
| Diabetes mellitus, permanent neonatal 3 | 2 | Jun 2, 2026 |
| Diabetes mellitus, permanent neonatal 4 | 1 | Jun 2, 2026 |
| Diabetes mellitus, transient neonatal, 2 | 1 | Mar 25, 2022 |
| Diamond-Blackfan anemia 1 | 6 | Jun 2, 2026 |
| Diamond-Blackfan anemia 20 | 1 | Mar 17, 2026 |
| Diamond-Blackfan anemia 4 | 1 | Oct 10, 2025 |
| Diamond-Blackfan anemia 5 | 1 | Jun 2, 2026 |
| Diamond-Blackfan anemia 6 | 7 | Jun 2, 2026 |
| Diamond-Blackfan anemia 7 | 2 | Mar 9, 2023 |
| Diamond-Blackfan anemia 9 | 1 | Jun 2, 2026 |
| Diaphanospondylodysostosis | 2 | Oct 10, 2025 |
| Diarrhea 12, with microvillus atrophy | 1 | Oct 10, 2025 |
| Diarrhea 9 | 1 | Jul 4, 2025 |
| Dias-Logan syndrome | 4 | Jun 2, 2026 |
| Diets-Jongmans syndrome | 5 | Jun 2, 2026 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 2 | Jun 2, 2026 |
| Dihydropteridine reductase deficiency | 5 | Jun 2, 2026 |
| Dihydropyrimidinase deficiency | 2 | Jan 11, 2022 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Jan 11, 2022 |
| Dilated cardiomyopathy 1A | 9 | Jun 2, 2026 |
| Dilated cardiomyopathy 1AA | 4 | Jun 2, 2026 |
| Dilated cardiomyopathy 1BB | 3 | Mar 17, 2026 |
| Dilated cardiomyopathy 1C | 1 | Jun 2, 2026 |
| Dilated cardiomyopathy 1CC | 1 | Oct 10, 2025 |
| Dilated cardiomyopathy 1D | 7 | Jun 2, 2026 |
| Dilated cardiomyopathy 1DD | 2 | Jun 2, 2026 |
| Dilated cardiomyopathy 1E | 1 | Jun 2, 2026 |
| Dilated cardiomyopathy 1EE | 2 | Oct 10, 2025 |
| Dilated cardiomyopathy 1G | 45 | Jun 2, 2026 |
| Dilated cardiomyopathy 1HH | 1 | Jun 2, 2026 |
| Dilated cardiomyopathy 1KK | 1 | Mar 25, 2022 |
| Dilated cardiomyopathy 1NN | 3 | Apr 7, 2025 |
| Dilated cardiomyopathy 1P | 1 | Oct 10, 2025 |
| Dilated cardiomyopathy 1R | 1 | Mar 25, 2022 |
| Dilated cardiomyopathy 1S | 10 | Jun 2, 2026 |
| Dilated cardiomyopathy 1W | 1 | Jun 2, 2026 |
| Dilated cardiomyopathy 1X | 3 | Mar 17, 2026 |
| Dilated cardiomyopathy 1Y | 1 | Apr 7, 2025 |
| Dilated cardiomyopathy 1Z | 2 | Mar 17, 2026 |
| Dilated cardiomyopathy 2A | 3 | Jun 2, 2026 |
| Dilated cardiomyopathy 3B | 2 | Jun 2, 2026 |
| Dimethylglycine dehydrogenase deficiency | 1 | Oct 10, 2025 |
| Distal arthrogryposis type 2B1 | 5 | Jun 2, 2026 |
| Distal arthrogryposis type 5D | 7 | Jun 2, 2026 |
| Distal myopathy with posterior leg and anterior hand involvement | 2 | Jun 2, 2026 |
| Distichiasis-lymphedema syndrome | 3 | Oct 10, 2025 |
| Dominant beta-thalassemia | 1 | Jan 11, 2022 |
| Donnai-Barrow syndrome | 1 | Mar 25, 2022 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 5 | Jun 2, 2026 |
| Drash syndrome | 1 | Jun 2, 2026 |
| Dubin-Johnson syndrome | 14 | Jun 2, 2026 |
| Duchenne muscular dystrophy | 87 | Jun 2, 2026 |
| Dworschak-Punetha neurodevelopmental syndrome | 3 | Jun 2, 2026 |
| Dyggve-Melchior-Clausen syndrome | 3 | Apr 7, 2025 |
| Dyschromatosis universalis hereditaria 1 | 3 | Apr 7, 2025 |
| Dyschromatosis universalis hereditaria 3 | 1 | Oct 10, 2025 |
| Dyskeratosis congenita, X-linked | 4 | Jun 2, 2026 |
| Dyskeratosis congenita, autosomal dominant 1 | 2 | Jun 2, 2026 |
| Dyskeratosis congenita, autosomal dominant 2 | 4 | Jun 2, 2026 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Sep 4, 2022 |
| Dyskeratosis congenita, autosomal recessive 5 | 10 | Jun 2, 2026 |
| Dyskeratosis congenita, autosomal recessive 6 | 3 | Jun 2, 2026 |
| Dyskinesia with orofacial involvement, autosomal dominant | 7 | Jun 2, 2026 |
| Dyskinesia with orofacial involvement, autosomal recessive | 3 | Jun 2, 2026 |
| Dysostosis multiplex, Ain-Naz type | 1 | Jun 2, 2026 |
| Dystonia 12 | 3 | Jun 2, 2026 |
| Dystonia 16 | 2 | May 26, 2025 |
| Dystonia 24 | 5 | Jun 2, 2026 |
| Dystonia 28, childhood-onset | 17 | Jun 2, 2026 |
| Dystonia 30 | 5 | Jun 2, 2026 |
| Dystonia 31 | 1 | Jun 2, 2026 |
| Dystonia 33 | 2 | Jun 2, 2026 |
| Dystonia 34, myoclonic | 1 | Sep 26, 2024 |
| Dystonia 37, early-onset, with striatal lesions | 1 | Apr 7, 2025 |
| Dystonia 5 | 14 | Jun 2, 2026 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 1 | Oct 10, 2025 |
| EAST syndrome | 1 | Jun 2, 2026 |
| EDAR-related disorder | 1 | Oct 10, 2025 |
| EEF1A2-related disorder | 1 | Oct 10, 2025 |
| EEF1D-related intellectual disabilities | 2 | Apr 7, 2025 |
| EEF2-related disorder | 2 | Jun 2, 2026 |
| EEF2-related neurodevelopmental disorder with multiple anomalies | 1 | Apr 7, 2025 |
| EEM syndrome | 1 | Oct 10, 2025 |
| EGR2-related disorder | 1 | Oct 10, 2025 |
| EIF3B-related disorder | 1 | Jun 2, 2026 |
| ELANE-related disorder | 1 | Oct 10, 2025 |
| ENHANCED S-CONE SYNDROME 1 | 3 | Jun 2, 2026 |
| EP300-related disorder | 1 | Oct 10, 2025 |
| ERCC2-related disorder | 2 | Jun 2, 2026 |
| ERCC6-related disorder | 3 | Jun 2, 2026 |
| ETS1-related disorder | 2 | Jun 2, 2026 |
| EVC2-related disorder | 1 | Jun 2, 2026 |
| EYA1-related disorder | 1 | Jun 2, 2026 |
| EZH1-related disorder | 1 | Jun 2, 2026 |
| Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy | 1 | Jun 2, 2026 |
| Early-onset Parkinson disease 20 | 2 | Sep 26, 2024 |
| Early-onset generalized limb-onset dystonia | 2 | Jun 2, 2026 |
| Early-onset myopathy with fatal cardiomyopathy | 14 | Jun 2, 2026 |
| Early-onset parkinsonism-intellectual disability syndrome | 1 | Jun 2, 2026 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 5 | Jun 2, 2026 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 3 | Oct 10, 2025 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 5 | Oct 10, 2025 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Jan 11, 2022 |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 1 | Jan 11, 2022 |
| Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type | 1 | Jun 2, 2026 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 4 | Jun 2, 2026 |
| Ectopia lentis 1, isolated, autosomal dominant | 3 | Sep 26, 2024 |
| Ectopia lentis 2, isolated, autosomal recessive | 3 | Jun 2, 2026 |
| Ectopia lentis et pupillae | 2 | Jun 2, 2026 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 4 | Apr 7, 2025 |
| Eculizumab, poor response to | 1 | Oct 10, 2025 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 5 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, arthrochalasia type | 3 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 4 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, classic type, 1 | 11 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, classic type, 2 | 5 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, classic-like, 2 | 2 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 3 | Oct 10, 2025 |
| Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, musculocontractural type 1 | 4 | Oct 10, 2025 |
| Ehlers-Danlos syndrome, musculocontractural type 2 | 1 | Jun 2, 2026 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 4 | Oct 10, 2025 |
| Ehlers-Danlos syndrome, type 4 | 16 | Jun 2, 2026 |
| Eichsfeld type congenital muscular dystrophy | 10 | Jun 2, 2026 |
| Eiken syndrome | 2 | Sep 26, 2024 |
| Elliptocytosis 1 | 1 | Mar 9, 2023 |
| Elliptocytosis 3 | 2 | Jun 2, 2026 |
| Ellis-van Creveld syndrome | 12 | Jun 2, 2026 |
| Elsahy-Waters syndrome | 1 | Jun 2, 2026 |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Jun 2, 2026 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 9 | Jun 2, 2026 |
| Encephalopathy due to GLUT1 deficiency | 11 | Jun 2, 2026 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 9 | Jun 2, 2026 |
| Encephalopathy, porphyria-related | 3 | Jun 2, 2026 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 5 | Jun 2, 2026 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 2 | Jan 11, 2022 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | Sep 26, 2024 |
| Enhanced S-cone syndrome | 3 | Oct 10, 2025 |
| Enterokinase deficiency | 1 | Oct 10, 2025 |
| Epidermodysplasia verruciformis, susceptibility to, 2 | 2 | Oct 10, 2025 |
| Epidermolysis bullosa pruriginosa | 2 | Apr 7, 2025 |
| Epidermolysis bullosa simplex 1A, generalized severe | 1 | Jan 11, 2022 |
| Epidermolysis bullosa simplex 1C, localized | 1 | Jan 11, 2022 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 4 | Jun 2, 2026 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 1 | Oct 10, 2025 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 1 | Jun 2, 2026 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 2 | Jun 2, 2026 |
| Epidermolysis bullosa simplex with mottled pigmentation | 1 | Mar 9, 2023 |
| Epidermolysis bullosa simplex, Koebner type | 1 | Jan 11, 2022 |
| Epidermolysis bullosa simplex, Ogna type | 1 | Oct 10, 2025 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Jun 2, 2026 |
| Epidermolytic hyperkeratosis 1 | 1 | Apr 7, 2025 |
| Epidermolytic hyperkeratosis 2A, autosomal dominant | 1 | Oct 10, 2025 |
| Epidermolytic palmoplantar keratoderma, 1 | 2 | Jun 2, 2026 |
| Epilepsy with myoclonic atonic seizures | 15 | Jun 2, 2026 |
| Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | 2 | Jun 2, 2026 |
| Epilepsy, childhood absence, susceptibility to, 6 | 2 | Jun 2, 2026 |
| Epilepsy, early-onset, 3, with or without developmental delay | 3 | Jun 2, 2026 |
| Epilepsy, early-onset, vitamin B6-dependent | 1 | Jun 2, 2026 |
| Epilepsy, early-onset, with or without developmental delay | 3 | Jun 2, 2026 |
| Epilepsy, familial adult myoclonic, 5 | 3 | Jun 2, 2026 |
| Epilepsy, familial focal, with variable foci 1 | 17 | Jun 2, 2026 |
| Epilepsy, familial focal, with variable foci 2 | 3 | Jun 2, 2026 |
| Epilepsy, familial focal, with variable foci 3 | 11 | Jun 2, 2026 |
| Epilepsy, familial focal, with variable foci 4 | 5 | Jun 2, 2026 |
| Epilepsy, familial temporal lobe, 1 | 1 | Oct 10, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 3 | Jun 2, 2026 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 2 | Jun 2, 2026 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 3 | Jun 2, 2026 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 5 | Jun 2, 2026 |
| Epilepsy, idiopathic generalized, susceptibility to, 17 | 3 | Jun 2, 2026 |
| Epilepsy, idiopathic generalized, susceptibility to, 18 | 1 | Oct 10, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 | Oct 10, 2025 |
| Epilepsy, progressive myoclonic, 11 | 5 | Oct 10, 2025 |
| Epilepsy, progressive myoclonic, 1B | 1 | Jun 2, 2026 |
| Epiphyseal dysplasia, multiple, 2 | 3 | Oct 10, 2025 |
| Epiphyseal dysplasia, multiple, 3 | 3 | Jun 2, 2026 |
| Epiphyseal dysplasia, multiple, 6 | 2 | Jun 2, 2026 |
| Episodic ataxia type 1 | 4 | Jun 2, 2026 |
| Episodic ataxia type 2 | 4 | Jun 2, 2026 |
| Episodic ataxia, type 9 | 2 | Apr 7, 2025 |
| Episodic kinesigenic dyskinesia 1 | 6 | Jun 2, 2026 |
| Episodic kinesigenic dyskinesia 3 | 3 | Jun 2, 2026 |
| Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis | 1 | Aug 2, 2024 |
| Epithelial basement membrane dystrophy | 1 | Apr 7, 2025 |
| Erythrokeratodermia variabilis et progressiva 1 | 1 | Apr 7, 2025 |
| Erythrokeratodermia variabilis et progressiva 2 | 1 | Oct 10, 2025 |
| Erythrokeratodermia variabilis et progressiva 4 | 1 | Jul 18, 2023 |
| Ethylmalonic encephalopathy | 3 | Jun 2, 2026 |
| Euthyroid goiter | 4 | Jun 2, 2026 |
| Exostoses, multiple, type 1 | 17 | Jun 2, 2026 |
| Exostoses, multiple, type 2 | 7 | Oct 10, 2025 |
| Exudative vitreoretinopathy 1 | 7 | Jun 2, 2026 |
| Exudative vitreoretinopathy 2, X-linked | 1 | Jul 18, 2023 |
| Exudative vitreoretinopathy 4 | 8 | Jul 18, 2023 |
| Exudative vitreoretinopathy 5 | 10 | Jun 2, 2026 |
| FAM20B-related disorder | 1 | Jun 2, 2026 |
| FAS-related disorder | 2 | Jun 2, 2026 |
| FAT1-related disorder | 2 | Jan 11, 2022 |
| FBN1-related disorder | 3 | Jun 2, 2026 |
| FBRSL1-related disorder | 2 | Jun 2, 2026 |
| FBXL20-related disorder | 1 | Jun 2, 2026 |
| FDXR-related disorder | 2 | Jun 2, 2026 |
| FEM1C-related intellectual disability | 1 | Oct 10, 2025 |
| FG syndrome 1 | 4 | Apr 7, 2025 |
| FG syndrome 2 | 1 | Nov 7, 2021 |
| FG syndrome 4 | 5 | Jun 2, 2026 |
| FGFR1-related disorder | 5 | Jun 2, 2026 |
| FGFR2-related disorder | 8 | Jun 2, 2026 |
| FGFR3-related disorder | 13 | Jun 2, 2026 |
| FHL1-related disorder | 3 | Jun 2, 2026 |
| FHL2-related cardiomyopathy | 1 | Oct 10, 2025 |
| FKRP-related disorder | 2 | Jun 2, 2026 |
| FKTN-related disorder | 2 | Jun 2, 2026 |
| FLNA-related disorder | 8 | Jun 2, 2026 |
| FLNB-related disorder | 1 | Jun 2, 2026 |
| FLNC-related disorder | 4 | Jun 2, 2026 |
| FOXA2-related disorder | 1 | Jun 2, 2026 |
| FOXC1-related disorder | 2 | Jun 2, 2026 |
| FOXG1 disorder | 27 | Jun 2, 2026 |
| FOXP4-related disorder | 3 | Jun 2, 2026 |
| FRAXE | 2 | Jun 2, 2026 |
| FREM1-related disorder | 1 | Oct 10, 2025 |
| FRYL-related developmental disorder | 1 | Oct 10, 2025 |
| FRYL-related disorder | 1 | Jan 11, 2022 |
| FUCA1-related disorder | 1 | Oct 10, 2025 |
| FXR1-related disorder | 2 | Jun 2, 2026 |
| Fabry disease | 46 | Jun 2, 2026 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 1 | Jun 2, 2026 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 4 | Mar 17, 2026 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 1 | Apr 7, 2025 |
| Facioscapulohumeral muscular dystrophy 4, digenic | 1 | Sep 26, 2024 |
| Factor H deficiency | 3 | Oct 10, 2025 |
| Factor I deficiency | 3 | Jun 2, 2026 |
| Factor V deficiency | 3 | Mar 9, 2023 |
| Factor XIII, A subunit, deficiency of | 2 | Sep 4, 2022 |
| Familial Mediterranean fever | 12 | Jun 2, 2026 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 23 | Jun 2, 2026 |
| Familial acute necrotizing encephalopathy | 1 | Oct 10, 2025 |
| Familial adenomatous polyposis 1 | 8 | Jun 2, 2026 |
| Familial adenomatous polyposis 4 | 1 | Jun 2, 2026 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Jun 2, 2026 |
| Familial atrial myxoma | 1 | Oct 10, 2025 |
| Familial benign pemphigus | 1 | Apr 7, 2025 |
| Familial cancer of breast | 14 | Jun 2, 2026 |
| Familial cold autoinflammatory syndrome 2 | 2 | Oct 10, 2025 |
| Familial dysfibrinogenemia | 4 | Oct 10, 2025 |
| Familial encephalopathy with neuroserpin inclusion bodies | 1 | Oct 10, 2025 |
| Familial gestational hyperthyroidism | 1 | Mar 9, 2023 |
| Familial hemophagocytic lymphohistiocytosis 2 | 11 | Jun 2, 2026 |
| Familial hemophagocytic lymphohistiocytosis 3 | 20 | Jun 2, 2026 |
| Familial hemophagocytic lymphohistiocytosis 4 | 1 | Oct 10, 2025 |
| Familial hemophagocytic lymphohistiocytosis 5 | 5 | Oct 10, 2025 |
| Familial hyperprolactinemia | 2 | Oct 10, 2025 |
| Familial hyperthyroidism due to mutations in TSH receptor | 2 | Jun 2, 2026 |
| Familial hypobetalipoproteinemia 1 | 2 | Jul 18, 2023 |
| Familial hypocalciuric hypercalcemia 1 | 1 | Oct 10, 2025 |
| Familial hypocalciuric hypercalcemia 3 | 1 | Oct 10, 2025 |
| Familial hypokalemia-hypomagnesemia | 45 | Jun 2, 2026 |
| Familial infantile myasthenia | 4 | Oct 10, 2025 |
| Familial infantile myoclonic epilepsy | 2 | Jun 2, 2026 |
| Familial isolated deficiency of vitamin E | 2 | Jun 2, 2026 |
| Familial juvenile hyperuricemic nephropathy type 1 | 15 | Jun 2, 2026 |
| Familial meningioma | 1 | Sep 26, 2024 |
| Familial partial lipodystrophy, Dunnigan type | 3 | Apr 7, 2025 |
| Familial pulmonary capillary hemangiomatosis | 2 | Jun 2, 2026 |
| Familial renal glucosuria | 5 | Jun 2, 2026 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 6 | Mar 17, 2026 |
| Familial temporal lobe epilepsy 7 | 3 | Jun 2, 2026 |
| Familial type 3 hyperlipoproteinemia | 4 | Jun 2, 2026 |
| Familial visceral amyloidosis, Ostertag type | 2 | Oct 10, 2025 |
| Fanconi anemia complementation group A | 21 | Jun 2, 2026 |
| Fanconi anemia complementation group B | 1 | Mar 9, 2023 |
| Fanconi anemia complementation group C | 4 | Jun 2, 2026 |
| Fanconi anemia complementation group D2 | 4 | Jun 2, 2026 |
| Fanconi anemia complementation group E | 2 | Oct 10, 2025 |
| Fanconi anemia complementation group F | 1 | Jun 2, 2026 |
| Fanconi anemia complementation group G | 5 | Jun 2, 2026 |
| Fanconi anemia complementation group I | 1 | Oct 10, 2025 |
| Fanconi anemia complementation group J | 1 | Jun 2, 2026 |
| Fanconi anemia complementation group L | 1 | Sep 4, 2022 |
| Fanconi anemia complementation group P | 5 | Jun 2, 2026 |
| Fanconi renotubular syndrome 1 | 2 | Oct 10, 2025 |
| Fanconi renotubular syndrome 2 | 3 | Jun 2, 2026 |
| Fanconi renotubular syndrome 3 | 1 | Apr 7, 2025 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Jun 2, 2026 |
| Fanconi-Bickel syndrome | 6 | Jun 2, 2026 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 | Sep 26, 2024 |
| Fatty acyl-CoA reductase 1 deficiency | 2 | Jun 2, 2026 |
| Febrile seizures, familial, 4 | 1 | Oct 10, 2025 |
| Febrile seizures, familial, 8 | 4 | Jun 2, 2026 |
| Feingold syndrome type 1 | 5 | Jun 2, 2026 |
| Female infertility due to zona pellucida defect | 2 | Jun 2, 2026 |
| Fetal akinesia deformation sequence 1 | 1 | Sep 26, 2024 |
| Fetal akinesia deformation sequence 3 | 2 | Sep 26, 2024 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 1 | Sep 26, 2024 |
| Fibrochondrogenesis 1 | 4 | Jul 4, 2025 |
| Fibromatosis, gingival, 5 | 1 | Sep 26, 2024 |
| Fibromuscular dysplasia, multifocal | 2 | Jun 2, 2026 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 2 | Apr 7, 2025 |
| Fibrosis of extraocular muscles, congenital, 5 | 1 | Apr 7, 2025 |
| Fibrosis, neurodegeneration, and cerebral angiomatosis | 2 | Oct 10, 2025 |
| Fibrous dysplasia of jaw | 2 | Jun 2, 2026 |
| Filippi syndrome | 3 | Jun 2, 2026 |
| Finnish congenital nephrotic syndrome | 22 | Jun 2, 2026 |
| Finnish type amyloidosis | 2 | Oct 10, 2025 |
| Finnish upper limb-onset distal myopathy | 1 | Jun 2, 2026 |
| Fish-eye disease | 1 | Apr 7, 2025 |
| Fleck corneal dystrophy | 1 | Oct 10, 2025 |
| Fliedner-Zweier syndrome | 4 | Jun 2, 2026 |
| Floating-Harbor syndrome | 8 | Jun 2, 2026 |
| Focal dermal hypoplasia | 3 | Jun 2, 2026 |
| Focal facial dermal dysplasia type IV | 2 | Oct 10, 2025 |
| Focal segmental glomerulosclerosis 1 | 4 | Apr 7, 2025 |
| Focal segmental glomerulosclerosis 2 | 7 | Jun 2, 2026 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 4 | Jun 2, 2026 |
| Focal segmental glomerulosclerosis 5 | 11 | Jun 2, 2026 |
| Focal segmental glomerulosclerosis 6 | 1 | Jun 2, 2026 |
| Focal segmental glomerulosclerosis 7 | 8 | Oct 10, 2025 |
| Focal segmental glomerulosclerosis 8 | 1 | Oct 10, 2025 |
| Focal segmental glomerulosclerosis 9 | 8 | Jun 2, 2026 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 4 | Jun 2, 2026 |
| Fontaine progeroid syndrome | 1 | Jun 2, 2026 |
| Foveal hypoplasia 1 | 1 | Apr 7, 2025 |
| Fowler syndrome | 2 | Jun 2, 2026 |
| Fragile X syndrome | 2 | Oct 10, 2025 |
| Frank-Ter Haar syndrome | 3 | Sep 26, 2024 |
| Fraser syndrome 1 | 9 | Oct 10, 2025 |
| Fraser syndrome 2 | 9 | Sep 26, 2024 |
| Freeman-Sheldon syndrome | 3 | Jun 2, 2026 |
| Frontometaphyseal dysplasia 1 | 1 | Jun 2, 2026 |
| Frontometaphyseal dysplasia 2 | 2 | Oct 10, 2025 |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 | Jul 18, 2023 |
| Frontorhiny | 1 | Apr 7, 2025 |
| Frontotemporal dementia | 2 | Jun 2, 2026 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 | May 28, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 2 | Oct 10, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | 2 | Jun 2, 2026 |
| Fructose-biphosphatase deficiency | 8 | Jun 2, 2026 |
| Fucosidosis | 5 | Jun 2, 2026 |
| Fumarase deficiency | 6 | Apr 7, 2025 |
| GABBR2-related disorder | 1 | Oct 10, 2025 |
| GABRA1-related disorder | 1 | Jun 2, 2026 |
| GABRB3-related disorder | 1 | Jun 2, 2026 |
| GABRG2-related disorder | 1 | Oct 10, 2025 |
| GALT-related disorder | 1 | Jun 2, 2026 |
| GAPO syndrome | 1 | Sep 26, 2024 |
| GARS1-related disorder | 2 | Oct 10, 2025 |
| GATA4-related dilated cardiomyopathy | 1 | Oct 10, 2025 |
| GATA6-related disorder | 1 | Oct 10, 2025 |
| GATAD2A-related disorder | 3 | Jun 2, 2026 |
| GBA1-related disorder | 5 | Jun 2, 2026 |
| GDAP1-related disorder | 4 | Jun 2, 2026 |
| GJB3-related disorder | 1 | Oct 10, 2025 |
| GLB1-related disorder | 9 | Jun 2, 2026 |
| GLI2-related disorder | 2 | Jun 2, 2026 |
| GLI3-related disorder | 1 | Oct 10, 2025 |
| GM1 gangliosidosis type 2 | 6 | Mar 17, 2026 |
| GM1 gangliosidosis type 3 | 3 | Jul 4, 2025 |
| GM3 synthase deficiency | 2 | Oct 10, 2025 |
| GMPPB-related disorder | 2 | Oct 10, 2025 |
| GNAO1-related disorder | 3 | Jun 2, 2026 |
| GNAS-related disorder | 15 | Jun 2, 2026 |
| GNB5-related disorder | 1 | Oct 10, 2025 |
| GNE myopathy | 8 | Jun 2, 2026 |
| GNE-related disorder | 1 | Jun 2, 2026 |
| GNPTAB-Related Disorders | 1 | Oct 10, 2025 |
| GNPTG-mucolipidosis | 6 | Jun 2, 2026 |
| GPR143-related disorder | 2 | Jun 2, 2026 |
| GRIA3-related disorder | 1 | Jun 2, 2026 |
| GRIK3-related disorder | 1 | Jun 2, 2026 |
| GRIN2A-related complex neurodevelopmental disorder | 2 | Jun 2, 2026 |
| GRIN2B-related disorder | 2 | Jun 2, 2026 |
| GRK2-related disorder | 1 | Jun 2, 2026 |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 2 | Jun 2, 2026 |
| GUCY2D-related disorder | 4 | Jun 2, 2026 |
| Gabriele de Vries syndrome | 3 | Jun 2, 2026 |
| Galactosemia 4 | 2 | Jun 2, 2026 |
| Galactosylceramide beta-galactosidase deficiency | 34 | Jun 2, 2026 |
| Galloway-Mowat syndrome 1 | 3 | Oct 10, 2025 |
| Galloway-Mowat syndrome 3 | 1 | Oct 10, 2025 |
| Galloway-Mowat syndrome 6 | 1 | Sep 26, 2024 |
| Galloway-Mowat syndrome 7 | 1 | Jun 2, 2026 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Sep 26, 2024 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 1 | Sep 26, 2024 |
| Gastric cancer | 2 | Oct 10, 2025 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 2 | Jun 2, 2026 |
| Gaucher disease perinatal lethal | 1 | Sep 26, 2024 |
| Gaucher disease type I | 4 | Jun 2, 2026 |
| Gaucher disease type II | 2 | Oct 10, 2025 |
| Gaucher disease type III | 2 | Sep 26, 2024 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | Sep 26, 2024 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 3 | Jun 2, 2026 |
| Geleophysic dysplasia 2 | 2 | Oct 10, 2025 |
| Geleophysic dysplasia 3 | 3 | Jun 2, 2026 |
| Generalized dominant dystrophic epidermolysis bullosa | 1 | Apr 7, 2025 |
| Generalized epilepsy with febrile seizures plus, type 10 | 3 | Jun 2, 2026 |
| Generalized epilepsy with febrile seizures plus, type 12 | 1 | Jun 2, 2026 |
| Generalized epilepsy with febrile seizures plus, type 2 | 20 | Jun 2, 2026 |
| Generalized epilepsy with febrile seizures plus, type 9 | 4 | Jun 2, 2026 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 | Oct 10, 2025 |
| Genitopatellar syndrome | 4 | Sep 26, 2024 |
| Genitourinary and/or brain malformation syndrome | 1 | Oct 10, 2025 |
| Geroderma osteodysplastica | 1 | Jun 2, 2026 |
| Gerstmann-Straussler-Scheinker syndrome | 3 | Oct 10, 2025 |
| Ghosal hematodiaphyseal dysplasia | 1 | Apr 7, 2025 |
| Giant axonal neuropathy 1 | 14 | Jun 2, 2026 |
| Gilbert syndrome | 3 | Jun 2, 2026 |
| Gillespie syndrome | 6 | Jun 2, 2026 |
| Glanzmann thrombasthenia 1 | 6 | Oct 10, 2025 |
| Glanzmann thrombasthenia 2 | 5 | Jun 2, 2026 |
| Glaucoma 1, open angle, A | 1 | May 28, 2022 |
| Glaucoma 3, primary congenital, D | 1 | Sep 26, 2024 |
| Glaucoma 3, primary congenital, E | 9 | Oct 10, 2025 |
| Glaucoma 3A | 9 | Jun 2, 2026 |
| Global developmental delay | 6 | Nov 7, 2021 |
| Global developmental delay with or without impaired intellectual development | 6 | Jun 2, 2026 |
| Global developmental delay with speech and behavioral abnormalities | 9 | Jun 2, 2026 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 3 | Jun 2, 2026 |
| Glomerulopathy with fibronectin deposits 2 | 4 | Jun 2, 2026 |
| Glucocorticoid deficiency 1 | 4 | Oct 10, 2025 |
| Glucocorticoid deficiency 2 | 1 | May 28, 2022 |
| Glucocorticoid deficiency 4 | 7 | Jun 2, 2026 |
| Glucocorticoid deficiency with achalasia | 6 | Jun 2, 2026 |
| Glucocorticoid resistance | 1 | Oct 10, 2025 |
| Glucose-6-phosphate transport defect | 4 | Jun 2, 2026 |
| Glutamate pyruvate transaminase 2 deficiency | 3 | Jun 2, 2026 |
| Glutaric aciduria, type 1 | 31 | Jun 2, 2026 |
| Glycine encephalopathy | 12 | Jul 18, 2023 |
| Glycine encephalopathy 1 | 14 | Jun 2, 2026 |
| Glycine encephalopathy 2 | 5 | Jun 2, 2026 |
| Glycogen storage disease IXa1 | 11 | Jun 2, 2026 |
| Glycogen storage disease IXb | 3 | May 28, 2022 |
| Glycogen storage disease IXc | 5 | Jun 2, 2026 |
| Glycogen storage disease XV | 1 | Jun 2, 2026 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 13 | Jun 2, 2026 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 2 | Jun 2, 2026 |
| Glycogen storage disease type III | 25 | Jun 2, 2026 |
| Glycogen storage disease type X | 1 | Jun 2, 2026 |
| Glycogen storage disease, type II | 43 | Jun 2, 2026 |
| Glycogen storage disease, type IV | 10 | Jun 2, 2026 |
| Glycogen storage disease, type V | 7 | Jun 2, 2026 |
| Glycogen storage disease, type VI | 6 | Oct 10, 2025 |
| Glycogen storage disease, type VII | 2 | Oct 10, 2025 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 7 | Jun 2, 2026 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 3 | Jun 2, 2026 |
| Gnathodiaphyseal dysplasia | 1 | Jul 4, 2025 |
| Goldberg-Shprintzen syndrome | 1 | May 28, 2022 |
| Gonadotropin-independent familial sexual precocity | 3 | Jun 2, 2026 |
| Gordon syndrome | 2 | Sep 4, 2022 |
| Gorlin syndrome | 6 | Mar 9, 2023 |
| Granulomatous disease, chronic, X-linked | 8 | Jun 2, 2026 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1 | Oct 10, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 2 | Jun 2, 2026 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 4 | Oct 10, 2025 |
| Gray platelet syndrome | 1 | Oct 10, 2025 |
| Grebe syndrome | 1 | Oct 10, 2025 |
| Greig cephalopolysyndactyly syndrome | 1 | Sep 4, 2022 |
| Griscelli syndrome type 2 | 4 | Jun 2, 2026 |
| Griscelli syndrome type 3 | 1 | Jun 2, 2026 |
| Groenouw corneal dystrophy type I | 1 | Jan 11, 2022 |
| Growth delay due to insulin-like growth factor I resistance | 9 | Jun 2, 2026 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 2 | Jun 2, 2026 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 | Jun 2, 2026 |
| Guillouet-Gordon syndrome | 2 | Jun 2, 2026 |
| H syndrome | 10 | Jun 2, 2026 |
| HBB-related disorder | 2 | Jun 2, 2026 |
| HCN1-related disorder | 1 | Oct 10, 2025 |
| HCN2-related disorder | 2 | Jun 2, 2026 |
| HCN4-related disorder | 1 | Oct 10, 2025 |
| HFM1-related disorder | 1 | Jun 2, 2026 |
| HNF1A-related disorder | 1 | Oct 10, 2025 |
| HNRNPA1-related disorder | 1 | Jun 2, 2026 |
| HNRNPU-related disorder | 1 | Jun 2, 2026 |
| HOXD13-related disorder | 1 | Oct 10, 2025 |
| HRAS-related disorder | 1 | Oct 10, 2025 |
| HSD10 mitochondrial disease | 1 | Jun 2, 2026 |
| HSD17B4-related disorder | 1 | Jun 2, 2026 |
| HSPA1L-related disorder | 1 | Jun 2, 2026 |
| HSPB1-related disorder | 1 | Oct 10, 2025 |
| HTRA1-related disorder | 1 | Jun 2, 2026 |
| Hajdu-Cheney syndrome | 8 | Mar 17, 2026 |
| Hao-Fountain syndrome | 2 | Mar 25, 2022 |
| Hao-Fountain syndrome due to USP7 mutation | 8 | Jun 2, 2026 |
| Harel-Tora neurodevelopmental syndrome | 2 | Jun 2, 2026 |
| Harel-Yoon syndrome | 7 | Jun 2, 2026 |
| Hartsfield-Bixler-Demyer syndrome | 4 | Apr 7, 2025 |
| Hawkinsinuria | 1 | Apr 7, 2025 |
| Hb SS disease | 4 | Jun 2, 2026 |
| Hearing loss, X-linked 6 | 2 | Jun 2, 2026 |
| Hearing loss, autosomal dominant 37 | 1 | May 28, 2022 |
| Hearing loss, autosomal dominant 75 | 1 | Jul 4, 2025 |
| Hearing loss, autosomal dominant 76 | 1 | Jan 11, 2022 |
| Hearing loss, autosomal dominant 80 | 3 | Jun 2, 2026 |
| Hearing loss, autosomal dominant 82 | 2 | Oct 10, 2025 |
| Hearing loss, autosomal dominant 84 | 2 | Jun 2, 2026 |
| Hearing loss, autosomal recessive 106 | 1 | Oct 10, 2025 |
| Hearing loss, autosomal recessive 110 | 1 | Apr 7, 2025 |
| Hearing loss, autosomal recessive 111 | 3 | Jun 2, 2026 |
| Hearing loss, autosomal recessive 113 | 2 | Jun 2, 2026 |
| Hearing loss, autosomal recessive 117 | 1 | Jan 11, 2022 |
| Hearing loss, autosomal recessive 119 | 2 | Oct 10, 2025 |
| Hearing loss, autosomal recessive 121 | 1 | Oct 10, 2025 |
| Hearing loss, autosomal recessive 57 | 2 | Apr 7, 2025 |
| Hearing loss, autosomal recessive 94 | 1 | Sep 26, 2024 |
| Heart-hand syndrome, Slovenian type | 1 | Apr 7, 2025 |
| Hecht syndrome | 1 | Oct 10, 2025 |
| Heimler syndrome 1 | 1 | Sep 26, 2024 |
| Hematuria, benign familial, 1 | 2 | May 26, 2025 |
| Hemochromatosis type 1 | 2 | Jun 2, 2026 |
| Hemolytic anemia due to adenylate kinase deficiency | 1 | Jun 2, 2026 |
| Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | 1 | Jun 2, 2026 |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 4 | Jun 2, 2026 |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 | May 28, 2022 |
| Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | 1 | Oct 10, 2025 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 9 | Jun 2, 2026 |
| Hemophagocytic lymphohistiocytosis, familial, 6 | 1 | Oct 10, 2025 |
| Hengel-Maroofian-Schols syndrome | 2 | Jun 2, 2026 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 | Nov 22, 2024 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 4 | Sep 26, 2024 |
| Hepatic methionine adenosyltransferase deficiency | 2 | Jun 2, 2026 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 6 | Jun 2, 2026 |
| Hepatorenocardiac degenerative fibrosis | 2 | Oct 10, 2025 |
| Hereditary angioedema type 1 | 5 | Jun 2, 2026 |
| Hereditary antithrombin deficiency | 2 | Apr 7, 2025 |
| Hereditary attention deficit-hyperactivity disorder | 1 | Oct 10, 2025 |
| Hereditary diffuse leukoencephalopathy with spheroids | 2 | Jan 11, 2022 |
| Hereditary factor IX deficiency disease | 6 | Apr 7, 2025 |
| Hereditary factor VIII deficiency disease | 30 | Jun 2, 2026 |
| Hereditary factor X deficiency disease | 2 | Jun 2, 2026 |
| Hereditary factor XI deficiency disease | 5 | Jun 2, 2026 |
| Hereditary fructosuria | 8 | Jun 2, 2026 |
| Hereditary insensitivity to pain with anhidrosis | 12 | Jun 2, 2026 |
| Hereditary leiomyomatosis and renal cell cancer | 2 | May 26, 2025 |
| Hereditary liability to pressure palsies | 1 | Oct 10, 2025 |
| Hereditary lymphedema type I | 2 | Jun 2, 2026 |
| Hereditary motor and sensory neuropathy, Okinawa type | 1 | Oct 10, 2025 |
| Hereditary mucoepithelial dysplasia | 1 | Mar 9, 2023 |
| Hereditary neutrophilia | 1 | Jun 2, 2026 |
| Hereditary pancreatitis | 2 | Jun 2, 2026 |
| Hereditary sensory and autonomic neuropathy type 6 | 4 | Mar 17, 2026 |
| Hereditary sensory and autonomic neuropathy type 7 | 1 | Jan 11, 2022 |
| Hereditary spastic paraplegia 10 | 8 | Jun 2, 2026 |
| Hereditary spastic paraplegia 11 | 19 | Jun 2, 2026 |
| Hereditary spastic paraplegia 15 | 4 | Jun 2, 2026 |
| Hereditary spastic paraplegia 17 | 2 | Jun 2, 2026 |
| Hereditary spastic paraplegia 18 | 1 | Apr 7, 2025 |
| Hereditary spastic paraplegia 2 | 1 | Oct 10, 2025 |
| Hereditary spastic paraplegia 26 | 3 | Jun 2, 2026 |
| Hereditary spastic paraplegia 30 | 6 | Oct 10, 2025 |
| Hereditary spastic paraplegia 31 | 2 | Oct 10, 2025 |
| Hereditary spastic paraplegia 35 | 12 | Jun 2, 2026 |
| Hereditary spastic paraplegia 39 | 4 | Oct 10, 2025 |
| Hereditary spastic paraplegia 3A | 10 | Jun 2, 2026 |
| Hereditary spastic paraplegia 4 | 29 | Jun 2, 2026 |
| Hereditary spastic paraplegia 42 | 1 | Oct 10, 2025 |
| Hereditary spastic paraplegia 43 | 1 | Jan 11, 2022 |
| Hereditary spastic paraplegia 44 | 1 | Oct 10, 2025 |
| Hereditary spastic paraplegia 45 | 2 | Jun 2, 2026 |
| Hereditary spastic paraplegia 46 | 6 | Jun 2, 2026 |
| Hereditary spastic paraplegia 47 | 4 | Jun 2, 2026 |
| Hereditary spastic paraplegia 50 | 10 | Jun 2, 2026 |
| Hereditary spastic paraplegia 51 | 2 | Oct 10, 2025 |
| Hereditary spastic paraplegia 52 | 3 | Jun 2, 2026 |
| Hereditary spastic paraplegia 54 | 4 | Jun 2, 2026 |
| Hereditary spastic paraplegia 56 | 7 | Jun 2, 2026 |
| Hereditary spastic paraplegia 5A | 3 | Jun 2, 2026 |
| Hereditary spastic paraplegia 6 | 1 | Oct 10, 2025 |
| Hereditary spastic paraplegia 61 | 1 | Oct 10, 2025 |
| Hereditary spastic paraplegia 63 | 1 | Jun 2, 2026 |
| Hereditary spastic paraplegia 64 | 5 | Apr 7, 2025 |
| Hereditary spastic paraplegia 7 | 16 | Jun 2, 2026 |
| Hereditary spastic paraplegia 73 | 2 | Jun 2, 2026 |
| Hereditary spastic paraplegia 74 | 2 | Jun 2, 2026 |
| Hereditary spastic paraplegia 77 | 2 | Sep 4, 2022 |
| Hereditary spastic paraplegia 8 | 4 | Jun 2, 2026 |
| Hereditary spastic paraplegia 9A | 3 | Mar 17, 2026 |
| Hereditary spherocytosis type 1 | 17 | Jun 2, 2026 |
| Hereditary spherocytosis type 2 | 15 | Jun 2, 2026 |
| Hereditary spherocytosis type 3 | 4 | Jun 2, 2026 |
| Hereditary spherocytosis type 4 | 4 | Jun 2, 2026 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 | Apr 7, 2025 |
| Hereditary xanthinuria type 1 | 2 | Mar 9, 2023 |
| Hermansky-Pudlak syndrome 1 | 1 | Jul 18, 2023 |
| Hermansky-Pudlak syndrome 2 | 4 | Jun 2, 2026 |
| Hermansky-Pudlak syndrome 3 | 7 | Jun 2, 2026 |
| Hermansky-Pudlak syndrome 4 | 1 | Oct 10, 2025 |
| Hermansky-Pudlak syndrome 5 | 1 | Jun 2, 2026 |
| Heterotaxy, visceral, 12, autosomal | 1 | Jun 2, 2026 |
| Heterotaxy, visceral, 14, autosomal | 1 | Jun 2, 2026 |
| Heterotaxy, visceral, 4, autosomal | 2 | Jun 2, 2026 |
| Heterotaxy, visceral, 5, autosomal | 2 | Oct 10, 2025 |
| Heterotopia, periventricular, X-linked dominant | 4 | Oct 10, 2025 |
| Heyn-Sproul-Jackson syndrome | 2 | Oct 10, 2025 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 6 | Jun 2, 2026 |
| Hidrotic ectodermal dysplasia syndrome | 1 | Jul 18, 2023 |
| Hirschsprung disease, susceptibility to, 1 | 2 | Oct 10, 2025 |
| Histidinemia | 3 | Apr 7, 2025 |
| Histiocytic medullary reticulosis | 10 | Jun 2, 2026 |
| Holocarboxylase synthetase deficiency | 2 | Oct 10, 2025 |
| Holoprosencephaly 13, X-linked | 1 | Sep 26, 2024 |
| Holoprosencephaly 14 | 2 | Jun 2, 2026 |
| Holoprosencephaly 3 | 2 | Jun 2, 2026 |
| Holoprosencephaly 5 | 2 | Sep 26, 2024 |
| Holoprosencephaly 7 | 4 | Jun 2, 2026 |
| Holoprosencephaly 9 | 3 | Oct 10, 2025 |
| Holt-Oram syndrome | 5 | Oct 10, 2025 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 8 | Jun 2, 2026 |
| Houge-Janssens syndrome 1 | 10 | Jun 2, 2026 |
| Houge-Janssens syndrome 2 | 8 | Jun 2, 2026 |
| Houge-Janssens syndrome 3 | 2 | Mar 17, 2026 |
| Houge-Janssens syndrome 4 | 4 | Mar 17, 2026 |
| Huntington disease | 1 | May 28, 2022 |
| Huntington disease-like 1 | 1 | May 26, 2025 |
| Hurler syndrome | 7 | Jun 2, 2026 |
| Hutchinson-Gilford syndrome | 2 | Apr 7, 2025 |
| Hyaline fibromatosis syndrome | 4 | Jun 2, 2026 |
| Hydatidiform mole, recurrent, 1 | 2 | Oct 10, 2025 |
| Hydrocephalus, congenital, 3, with brain anomalies | 1 | Sep 26, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 | Sep 26, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 6 | Jun 2, 2026 |
| Hydrolethalus syndrome 2 | 1 | Sep 26, 2024 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 2 | Jun 2, 2026 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 6 | Jun 2, 2026 |
| Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | 2 | Oct 10, 2025 |
| Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections | 4 | Jun 2, 2026 |
| Hyper-IgM syndrome type 1 | 6 | Oct 10, 2025 |
| Hyper-IgM syndrome type 2 | 2 | Jul 18, 2023 |
| Hyper-IgM syndrome type 5 | 1 | May 28, 2022 |
| Hyperaldosteronism, familial, type IV | 1 | Sep 26, 2024 |
| Hyperalphalipoproteinemia 1 | 1 | Apr 7, 2025 |
| Hyperammonemia, type III | 2 | Jun 2, 2026 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Jun 2, 2026 |
| Hypercalcemia, infantile, 1 | 4 | Jun 2, 2026 |
| Hypercalcemia, infantile, 2 | 6 | Jun 2, 2026 |
| Hypercholanemia, familial 1 | 2 | Sep 26, 2024 |
| Hypercholanemia, familial, 2 | 3 | Mar 9, 2023 |
| Hypercholesterolemia, autosomal dominant, 3 | 6 | Jun 2, 2026 |
| Hypercholesterolemia, autosomal dominant, type B | 2 | Jun 2, 2026 |
| Hypercholesterolemia, familial, 1 | 34 | Jun 2, 2026 |
| Hyperekplexia 1 | 4 | Jun 2, 2026 |
| Hyperekplexia 2 | 3 | Jun 2, 2026 |
| Hyperekplexia 3 | 4 | Jul 10, 2026 |
| Hyperekplexia 4 | 1 | Oct 10, 2025 |
| Hyperimmunoglobulin D with periodic fever | 3 | Jun 2, 2026 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 21 | Jun 2, 2026 |
| Hyperinsulinemic hypoglycemia, familial, 2 | 1 | Jun 2, 2026 |
| Hyperinsulinism-hyperammonemia syndrome | 5 | Jun 2, 2026 |
| Hyperkalemic periodic paralysis | 3 | Jun 2, 2026 |
| Hyperlipidemia, familial combined, LPL related | 2 | Jun 2, 2026 |
| Hyperlipoproteinemia, type 1D | 6 | Jun 2, 2026 |
| Hyperlipoproteinemia, type I | 8 | Jun 2, 2026 |
| Hypermanganesemia with dystonia 2 | 1 | Apr 7, 2025 |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 | Sep 4, 2022 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 3 | Jun 2, 2026 |
| Hyperparathyroidism 2 with jaw tumors | 1 | Oct 10, 2025 |
| Hyperparathyroidism, transient neonatal | 2 | Jun 2, 2026 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 2 | Oct 10, 2025 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 3 | Jun 2, 2026 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 2 | Jun 2, 2026 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 5 | Apr 7, 2025 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 3 | Jun 2, 2026 |
| Hyperprolinemia type 2 | 3 | Sep 26, 2024 |
| Hyperthyroxinemia, familial dysalbuminemic | 2 | Jun 2, 2026 |
| Hypertrichotic osteochondrodysplasia Cantu type | 9 | Jun 2, 2026 |
| Hypertriglyceridemia 1 | 1 | Oct 10, 2025 |
| Hypertriglyceridemia 2 | 1 | Mar 17, 2026 |
| Hypertrophic cardiomyopathy 1 | 100 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 10 | 5 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 11 | 4 | Oct 10, 2025 |
| Hypertrophic cardiomyopathy 12 | 3 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 13 | 6 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 14 | 8 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 15 | 1 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 17 | 2 | Oct 10, 2025 |
| Hypertrophic cardiomyopathy 2 | 5 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 26 | 18 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 3 | 16 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 4 | 97 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 6 | 4 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 7 | 18 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 8 | 5 | Jun 2, 2026 |
| Hypertrophic cardiomyopathy 9 | 3 | Jun 2, 2026 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 1 | Jun 2, 2026 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 4 | Oct 10, 2025 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 11 | Jun 2, 2026 |
| Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 1 | Oct 10, 2025 |
| Hyperzincemia and hypercalprotectinemia | 3 | Jun 2, 2026 |
| Hypoalphalipoproteinemia, primary, 2 | 1 | May 28, 2022 |
| Hypochondroplasia | 4 | Oct 10, 2025 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 6 | Jun 2, 2026 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 3 | Oct 10, 2025 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 11 | Jun 2, 2026 |
| Hypogonadotropic hypogonadism 25 with anosmia | 1 | Oct 10, 2025 |
| Hypogonadotropic hypogonadism 26 with or without anosmia | 1 | Oct 10, 2025 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 2 | Jun 2, 2026 |
| Hypogonadotropic hypogonadism 4 with or without anosmia | 1 | Jun 2, 2026 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 9 | Oct 10, 2025 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 2 | Oct 10, 2025 |
| Hypohidrotic X-linked ectodermal dysplasia | 17 | Jun 2, 2026 |
| Hypokalemic periodic paralysis, type 1 | 3 | Jun 2, 2026 |
| Hypokalemic periodic paralysis, type 2 | 2 | Oct 10, 2025 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 1 | Jun 2, 2026 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 2 | Apr 7, 2025 |
| Hypomyelinating leukodystrophy 10 | 10 | Jun 2, 2026 |
| Hypomyelinating leukodystrophy 11 | 2 | Apr 7, 2025 |
| Hypomyelinating leukodystrophy 12 | 1 | Jul 18, 2023 |
| Hypomyelinating leukodystrophy 2 | 10 | Jun 2, 2026 |
| Hypomyelinating leukodystrophy 3 | 3 | Jun 2, 2026 |
| Hypomyelinating leukodystrophy 4 | 1 | Jun 2, 2026 |
| Hypomyelinating leukodystrophy 6 | 15 | Jun 2, 2026 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 9 | Jun 2, 2026 |
| Hypomyelinating leukodystrophy 9 | 3 | Oct 10, 2025 |
| Hypomyelination and Congenital Cataract | 3 | Jun 2, 2026 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 2 | Oct 10, 2025 |
| Hypoparathyroidism, deafness, renal disease syndrome | 8 | Jun 2, 2026 |
| Hypoparathyroidism, familial isolated, 2 | 3 | Jun 2, 2026 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 5 | Jun 2, 2026 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 1 | Sep 26, 2024 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 1 | May 28, 2022 |
| Hypothyroidism due to TSH receptor mutations | 9 | Jun 2, 2026 |
| Hypothyroidism, congenital, nongoitrous, 2 | 1 | Apr 7, 2025 |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 | Nov 5, 2021 |
| Hypotonia with lactic acidemia and hyperammonemia | 1 | Jun 2, 2026 |
| Hypotonia, ataxia, and delayed development syndrome | 14 | Jun 2, 2026 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 2 | Jun 2, 2026 |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 1 | Jun 2, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 9 | Jun 2, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 13 | Jun 2, 2026 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 9 | Jun 2, 2026 |
| Hypotrichosis 11 | 1 | Jul 18, 2023 |
| Hypotrichosis 15 | 1 | Apr 7, 2025 |
| Hypotrichosis 7 | 4 | Oct 10, 2025 |
| Hypotrichosis 8 | 1 | Apr 7, 2025 |
| Hypouricemia, renal, 2 | 1 | Oct 10, 2025 |
| IDUA-related disorder | 6 | Jun 2, 2026 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 | Jan 11, 2022 |
| IFT140-related disorder | 2 | Jun 2, 2026 |
| IFT172-related disorder | 1 | Oct 10, 2025 |
| IGF1R-related disorder | 1 | Jun 2, 2026 |
| IGSF1-related disorder | 1 | Jun 2, 2026 |
| IHH-related disorder | 1 | Jun 2, 2026 |
| IKBKG-related disorder | 1 | Oct 10, 2025 |
| IL2RG-related disorder | 1 | Jun 2, 2026 |
| IMAGe syndrome | 1 | Oct 10, 2025 |
| IMPG1-related disorder | 1 | Jun 2, 2026 |
| INO80-related immunodeficiency | 2 | Apr 7, 2025 |
| INTS6-related disorder | 1 | Jun 2, 2026 |
| IPP-related disorder | 2 | Jun 2, 2026 |
| ITPR1-related disorder | 5 | Jun 2, 2026 |
| Ichthyosis prematurity syndrome | 4 | Jun 2, 2026 |
| Ichthyosis vulgaris | 13 | Jun 2, 2026 |
| Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | 1 | Jun 2, 2026 |
| Idiopathic basal ganglia calcification 1 | 2 | Oct 10, 2025 |
| Imagawa-Matsumoto syndrome | 6 | Jun 2, 2026 |
| Imerslund-Grasbeck syndrome type 1 | 4 | Oct 10, 2025 |
| Imerslund-Grasbeck syndrome type 2 | 6 | Jun 2, 2026 |
| Immunodeficiency 104 | 3 | Oct 10, 2025 |
| Immunodeficiency 106, susceptibility to viral infections | 1 | Jun 2, 2026 |
| Immunodeficiency 109 with lymphoproliferation | 1 | Oct 10, 2025 |
| Immunodeficiency 121 with autoinflammation | 1 | Oct 10, 2025 |
| Immunodeficiency 131 | 1 | Jun 2, 2026 |
| Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy | 1 | Jun 2, 2026 |
| Immunodeficiency 14 | 2 | Jun 2, 2026 |
| Immunodeficiency 23 | 1 | Oct 10, 2025 |
| Immunodeficiency 27A | 2 | Oct 10, 2025 |
| Immunodeficiency 33 | 1 | Jan 11, 2022 |
| Immunodeficiency 35 | 1 | Oct 10, 2025 |
| Immunodeficiency 36 with lymphoproliferation | 1 | May 28, 2022 |
| Immunodeficiency 45 | 1 | Sep 26, 2024 |
| Immunodeficiency 47 | 7 | Jun 2, 2026 |
| Immunodeficiency 49 | 5 | Oct 10, 2025 |
| Immunodeficiency 57 | 5 | Jun 2, 2026 |
| Immunodeficiency 60 | 1 | Oct 10, 2025 |
| Immunodeficiency 61 | 1 | Jun 2, 2026 |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 1 | Apr 7, 2025 |
| Immunodeficiency 64 | 1 | Jun 2, 2026 |
| Immunodeficiency 67 | 1 | Oct 10, 2025 |
| Immunodeficiency 72 with autoinflammation | 1 | Oct 10, 2025 |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 1 | Jan 11, 2022 |
| Immunodeficiency 76 | 1 | Sep 26, 2024 |
| Immunodeficiency 78 with autoimmunity and developmental delay | 1 | Oct 10, 2025 |
| Immunodeficiency 81 | 2 | Jan 11, 2022 |
| Immunodeficiency 82 with systemic inflammation | 1 | May 28, 2022 |
| Immunodeficiency 91 and hyperinflammation | 2 | Jun 2, 2026 |
| Immunodeficiency 93 and hypertrophic cardiomyopathy | 1 | Jun 2, 2026 |
| Immunodeficiency 95 | 1 | May 28, 2022 |
| Immunodeficiency 97 with autoinflammation | 2 | Oct 10, 2025 |
| Immunodeficiency, common variable, 10 | 1 | Mar 9, 2023 |
| Immunodeficiency, common variable, 12 | 3 | Oct 10, 2025 |
| Immunodeficiency, common variable, 14 | 1 | Jun 2, 2026 |
| Immunodeficiency, common variable, 2 | 7 | Jun 2, 2026 |
| Immunodeficiency, common variable, 6 | 1 | Jun 2, 2026 |
| Immunodeficiency, common variable, 7 | 1 | Oct 10, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 2 | Oct 10, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Mar 25, 2022 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 4 | Oct 10, 2025 |
| Inborn glycerol kinase deficiency | 2 | Jun 2, 2026 |
| Inclusion body myopathy and brain white matter abnormalities | 1 | Mar 9, 2023 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 2 | Apr 7, 2025 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 | Jan 11, 2022 |
| Incontinentia pigmenti syndrome | 2 | Jun 2, 2026 |
| Infantile GM1 gangliosidosis | 1 | Sep 26, 2024 |
| Infantile cerebellar-retinal degeneration | 4 | Oct 10, 2025 |
| Infantile convulsions and choreoathetosis | 2 | Apr 7, 2025 |
| Infantile cortical hyperostosis | 1 | Oct 10, 2025 |
| Infantile hypophosphatasia | 5 | Jun 2, 2026 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 5 | Jun 2, 2026 |
| Infantile liver failure syndrome 1 | 5 | Jun 2, 2026 |
| Infantile liver failure syndrome 2 | 4 | Oct 10, 2025 |
| Infantile nephronophthisis | 5 | Jun 2, 2026 |
| Infantile neuroaxonal dystrophy | 18 | Jun 2, 2026 |
| Infantile onset spinocerebellar ataxia | 3 | Sep 26, 2024 |
| Infantile-onset X-linked spinal muscular atrophy | 1 | Jun 2, 2026 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 | Apr 7, 2025 |
| Infection-induced acute-onset axonal neuropathy | 2 | Jun 2, 2026 |
| Inflammatory bowel disease 1 | 1 | Oct 10, 2025 |
| Inflammatory bowel disease 28 | 1 | Mar 17, 2026 |
| Inflammatory skin and bowel disease, neonatal, 1 | 3 | Oct 10, 2025 |
| Inherited Creutzfeldt-Jakob disease | 1 | Oct 10, 2025 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 7 | Jun 2, 2026 |
| Intellectual developmental disorder 59 | 3 | Jun 2, 2026 |
| Intellectual developmental disorder 60 with seizures | 1 | Jun 2, 2026 |
| Intellectual developmental disorder 61 | 10 | Jun 2, 2026 |
| Intellectual developmental disorder 62 | 11 | Jun 2, 2026 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Sep 26, 2024 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 4 | Jun 2, 2026 |
| Intellectual developmental disorder with autism and macrocephaly | 16 | Jun 2, 2026 |
| Intellectual developmental disorder with autism and speech delay | 8 | Jun 2, 2026 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 8 | Jun 2, 2026 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 4 | Mar 17, 2026 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Nov 7, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 12 | Jun 2, 2026 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 5 | Jun 2, 2026 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Oct 10, 2025 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 7 | Jun 2, 2026 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 3 | Jun 2, 2026 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 9 | Jun 2, 2026 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 4 | Mar 17, 2026 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 3 | Jun 2, 2026 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 6 | Jun 2, 2026 |
| Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | 1 | Apr 7, 2025 |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 1 | Jun 2, 2026 |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | 2 | Jun 2, 2026 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 6 | Jun 2, 2026 |
| Intellectual developmental disorder with or without peripheral neuropathy | 1 | Jun 2, 2026 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 2 | Jun 2, 2026 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 2 | Apr 7, 2025 |
| Intellectual developmental disorder with seizures and language delay | 13 | Jun 2, 2026 |
| Intellectual developmental disorder with severe speech and ambulation defects | 3 | Oct 10, 2025 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 4 | Oct 10, 2025 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 7 | Jun 2, 2026 |
| Intellectual developmental disorder, X-linked 111 | 6 | Jun 2, 2026 |
| Intellectual developmental disorder, X-linked 112 | 1 | Oct 10, 2025 |
| Intellectual developmental disorder, X-linked 114 | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 4 | Oct 10, 2025 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 7 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 5 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 64 | 11 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 65 | 5 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 66 | 6 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 67 | 3 | Oct 10, 2025 |
| Intellectual developmental disorder, autosomal dominant 68 | 6 | Oct 10, 2025 |
| Intellectual developmental disorder, autosomal dominant 69 | 1 | Mar 17, 2026 |
| Intellectual developmental disorder, autosomal dominant 70 | 2 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | 4 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 72 | 10 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 73 | 5 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 74 | 1 | Oct 10, 2025 |
| Intellectual developmental disorder, autosomal dominant 75 | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 76 | 5 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal dominant 77 | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Sep 4, 2022 |
| Intellectual developmental disorder, autosomal recessive 71 | 2 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 6 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal recessive 77 | 3 | Sep 26, 2024 |
| Intellectual developmental disorder, autosomal recessive 78 | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal recessive 79 | 1 | Oct 10, 2025 |
| Intellectual developmental disorder, autosomal recessive 81 | 1 | Jun 2, 2026 |
| Intellectual developmental disorder, autosomal recessive 84 | 2 | Jun 2, 2026 |
| Intellectual disability and myopathy syndrome | 3 | Oct 10, 2025 |
| Intellectual disability, X-linked 1 | 13 | Jun 2, 2026 |
| Intellectual disability, X-linked 102 | 24 | Jun 2, 2026 |
| Intellectual disability, X-linked 103 | 1 | Jun 2, 2026 |
| Intellectual disability, X-linked 104 | 7 | Jun 2, 2026 |
| Intellectual disability, X-linked 105 | 1 | Jun 2, 2026 |
| Intellectual disability, X-linked 106 | 1 | Mar 17, 2026 |
| Intellectual disability, X-linked 19 | 2 | Jun 2, 2026 |
| Intellectual disability, X-linked 21 | 1 | Nov 5, 2021 |
| Intellectual disability, X-linked 30 | 4 | Jun 2, 2026 |
| Intellectual disability, X-linked 41 | 3 | Sep 26, 2024 |
| Intellectual disability, X-linked 49 | 10 | Jun 2, 2026 |
| Intellectual disability, X-linked 61 | 5 | Mar 17, 2026 |
| Intellectual disability, X-linked 9 | 2 | Jun 2, 2026 |
| Intellectual disability, X-linked 90 | 2 | Jun 2, 2026 |
| Intellectual disability, X-linked 93 | 2 | Oct 10, 2025 |
| Intellectual disability, X-linked 96 | 3 | Jun 2, 2026 |
| Intellectual disability, X-linked 97 | 1 | Oct 10, 2025 |
| Intellectual disability, X-linked 99 | 3 | Jun 2, 2026 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 8 | Jun 2, 2026 |
| Intellectual disability, X-linked syndromic, Turner type | 20 | Jun 2, 2026 |
| Intellectual disability, X-linked, syndromic 33 | 8 | Jun 2, 2026 |
| Intellectual disability, X-linked, syndromic, 35 | 1 | Jun 2, 2026 |
| Intellectual disability, X-linked, syndromic, Bain type | 2 | Jun 2, 2026 |
| Intellectual disability, X-linked, syndromic, Houge type | 9 | Jun 2, 2026 |
| Intellectual disability, X-linked, with panhypopituitarism | 1 | Mar 17, 2026 |
| Intellectual disability, autosomal dominant 1 | 8 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 11 | 2 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 13 | 17 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 14 | 9 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 15 | 8 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 16 | 14 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 22 | 9 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 24 | 6 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 29 | 7 | Mar 17, 2026 |
| Intellectual disability, autosomal dominant 30 | 11 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 34 | 2 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 38 | 3 | Jan 7, 2026 |
| Intellectual disability, autosomal dominant 39 | 8 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 40 | 4 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 41 | 4 | Oct 10, 2025 |
| Intellectual disability, autosomal dominant 42 | 10 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 43 | 6 | Mar 17, 2026 |
| Intellectual disability, autosomal dominant 45 | 5 | Oct 10, 2025 |
| Intellectual disability, autosomal dominant 46 | 5 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 47 | 5 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 48 | 3 | Oct 10, 2025 |
| Intellectual disability, autosomal dominant 5 | 32 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 50 | 17 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 51 | 4 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 52 | 11 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 53 | 2 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 54 | 7 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 55, with seizures | 5 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 56 | 10 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 57 | 16 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 58 | 2 | Oct 10, 2025 |
| Intellectual disability, autosomal dominant 6 | 8 | Jun 2, 2026 |
| Intellectual disability, autosomal dominant 9 | 18 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 12 | 2 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 13 | 3 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 18 | 5 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 2 | 2 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 27 | 3 | Oct 10, 2025 |
| Intellectual disability, autosomal recessive 3 | 1 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 42 | 2 | Oct 10, 2025 |
| Intellectual disability, autosomal recessive 43 | 2 | Oct 10, 2025 |
| Intellectual disability, autosomal recessive 44 | 2 | Apr 7, 2025 |
| Intellectual disability, autosomal recessive 46 | 1 | Oct 10, 2025 |
| Intellectual disability, autosomal recessive 47 | 1 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 5 | 7 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 52 | 2 | Oct 10, 2025 |
| Intellectual disability, autosomal recessive 53 | 6 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 57 | 8 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 58 | 3 | Oct 10, 2025 |
| Intellectual disability, autosomal recessive 6 | 2 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 61 | 3 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 65 | 7 | Jun 2, 2026 |
| Intellectual disability, autosomal recessive 66 | 1 | Jan 11, 2022 |
| Intellectual disability, autosomal recessive 7 | 2 | Oct 10, 2025 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 | Apr 7, 2025 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 21 | Jun 2, 2026 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 5 | Oct 10, 2025 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 20 | Jun 2, 2026 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 16 | Jun 2, 2026 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 18 | Jun 2, 2026 |
| Intellectual disability-strabismus syndrome | 2 | Jun 2, 2026 |
| Interstitial lung disease 1 | 3 | Oct 10, 2025 |
| Interstitial lung disease 2 | 1 | Jun 2, 2026 |
| Interstitial lung disease due to ABCA3 deficiency | 4 | Jun 2, 2026 |
| Intestinal hypomagnesemia 1 | 10 | Jun 2, 2026 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 2 | Jan 11, 2022 |
| Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 1 | Oct 10, 2025 |
| Iodotyrosyl coupling defect | 10 | Jun 2, 2026 |
| Irido-corneo-trabecular dysgenesis | 3 | Jun 2, 2026 |
| Iron-refractory iron deficiency anemia | 1 | Jun 2, 2026 |
| Islet cell adenomatosis | 1 | Oct 10, 2025 |
| Isolated congenital digital clubbing | 1 | Sep 26, 2024 |
| Isolated congenital megalocornea | 1 | Jul 4, 2025 |
| Isolated cryptophthalmia | 8 | Sep 26, 2024 |
| Isolated focal cortical dysplasia type II | 8 | Jun 2, 2026 |
| Isolated focal non-epidermolytic palmoplantar keratoderma | 1 | Oct 10, 2025 |
| Isolated growth hormone deficiency, type 4 | 4 | Jun 2, 2026 |
| Isolated growth hormone deficiency, type 5 | 1 | Apr 7, 2025 |
| Isolated hyperferritinemia | 1 | Oct 10, 2025 |
| Isolated microphthalmia 2 | 2 | Apr 7, 2025 |
| Isolated microphthalmia 3 | 1 | Oct 10, 2025 |
| Isolated microphthalmia 5 | 3 | Oct 10, 2025 |
| Isolated microphthalmia 6 | 3 | Jun 2, 2026 |
| Isolated microphthalmia 8 | 2 | Jun 2, 2026 |
| Isolated neonatal sclerosing cholangitis | 2 | Sep 4, 2022 |
| Isolated thyroid-stimulating hormone deficiency | 1 | May 28, 2022 |
| Isovaleryl-CoA dehydrogenase deficiency | 10 | Jun 2, 2026 |
| JAK2-related disorder | 2 | Jun 2, 2026 |
| Jaberi-Elahi syndrome | 1 | Jan 11, 2022 |
| Jalili syndrome | 1 | Jan 11, 2022 |
| Jawad syndrome | 3 | Sep 26, 2024 |
| Jeffries-Lakhani neurodevelopmental syndrome | 1 | Jun 2, 2026 |
| Jervell and Lange-Nielsen syndrome 1 | 5 | Jun 2, 2026 |
| Jeune syndrome - GRK2-related | 1 | Oct 10, 2025 |
| Joint laxity, short stature, and myopia | 4 | Apr 7, 2025 |
| Joubert syndrome 1 | 3 | Jun 2, 2026 |
| Joubert syndrome 10 | 1 | Mar 9, 2023 |
| Joubert syndrome 14 | 2 | Jun 2, 2026 |
| Joubert syndrome 17 | 7 | Oct 10, 2025 |
| Joubert syndrome 20 | 2 | Oct 10, 2025 |
| Joubert syndrome 21 | 8 | Jun 2, 2026 |
| Joubert syndrome 24 | 1 | Sep 26, 2024 |
| Joubert syndrome 25 | 3 | Sep 26, 2024 |
| Joubert syndrome 26 | 2 | Oct 10, 2025 |
| Joubert syndrome 28 | 1 | May 28, 2022 |
| Joubert syndrome 3 | 11 | Jun 2, 2026 |
| Joubert syndrome 30 | 3 | Oct 10, 2025 |
| Joubert syndrome 33 | 2 | May 28, 2022 |
| Joubert syndrome 35 | 1 | Oct 10, 2025 |
| Joubert syndrome 37 | 1 | Oct 10, 2025 |
| Joubert syndrome 5 | 8 | Oct 10, 2025 |
| Joubert syndrome 6 | 6 | Jun 2, 2026 |
| Joubert syndrome 7 | 2 | Oct 10, 2025 |
| Joubert syndrome 8 | 2 | Jun 2, 2026 |
| Joubert syndrome 9 | 18 | Jun 2, 2026 |
| Joubert syndrome with renal defect | 1 | Oct 10, 2025 |
| Juberg-Hayward syndrome | 1 | Sep 26, 2024 |
| Junctional epidermolysis bullosa gravis of Herlitz | 2 | May 26, 2025 |
| Junctional epidermolysis bullosa, non-Herlitz type | 5 | Oct 10, 2025 |
| Juvenile polyposis syndrome | 6 | Jun 2, 2026 |
| Juvenile retinoschisis | 27 | Jun 2, 2026 |
| KARS1-related disorder | 1 | Oct 10, 2025 |
| KAT6B-related disorder | 3 | Jun 2, 2026 |
| KBG syndrome | 61 | Jun 2, 2026 |
| KCNA2-related disorder | 1 | Oct 10, 2025 |
| KCNA3-related developmental delays and epileptic encephalopathies | 3 | Oct 10, 2025 |
| KCNA3-related disorder | 3 | Jun 2, 2026 |
| KCNA6-related neurodevelopmenta disorder | 1 | Oct 10, 2025 |
| KCNAB3-related disorder | 1 | Jun 2, 2026 |
| KCNB2-related disorder | 1 | Jun 2, 2026 |
| KCND2-related disorder | 1 | Jun 2, 2026 |
| KCND2-related neurodevelopmental disorder | 4 | Oct 10, 2025 |
| KCNH2-related disorder | 2 | Jun 2, 2026 |
| KCNMA1-related disorder | 1 | Jun 2, 2026 |
| KCNQ1-related disorder | 2 | Jun 2, 2026 |
| KCNQ2-Related Disorders | 4 | Jun 2, 2026 |
| KCNT1-related disorder | 1 | Jun 2, 2026 |
| KDM2A-related disorder | 1 | Jun 2, 2026 |
| KDM2B-related disorder | 1 | Jun 2, 2026 |
| KDM5C-related disorder | 1 | Jun 2, 2026 |
| KIF1A-related disorder | 3 | Jun 2, 2026 |
| KIF21A-related disorder | 1 | Oct 10, 2025 |
| KIF21B-related disorder | 1 | Jun 2, 2026 |
| KIF5A-related disorder | 1 | Oct 10, 2025 |
| KIF5B-related developmental disorder | 2 | Apr 7, 2025 |
| KIF5B-related disorder | 1 | Jun 2, 2026 |
| KIF7-related disorder | 1 | Jun 2, 2026 |
| KINSSHIP syndrome | 3 | Jun 2, 2026 |
| KIRREL3-related disorder | 1 | Oct 10, 2025 |
| KLF7-related disorder | 1 | Jun 2, 2026 |
| KLHL20-related disorder | 3 | Oct 10, 2025 |
| KMT2B-related disorder | 1 | Jun 2, 2026 |
| KRT1-related disorder | 1 | Jun 2, 2026 |
| KRT10-related disorder | 1 | Jun 2, 2026 |
| KRT14-related disorder | 2 | Jun 2, 2026 |
| KRT5-related disorder | 3 | Jun 2, 2026 |
| Kabuki syndrome 1 | 81 | Jun 2, 2026 |
| Kabuki syndrome 2 | 10 | Jun 2, 2026 |
| Kahrizi syndrome | 1 | Oct 10, 2025 |
| Karayol-Borroto-Haghshenas neurodevelopmental syndrome | 5 | Jun 2, 2026 |
| Kariminejad neurodevelopmental syndrome | 1 | Oct 10, 2025 |
| Kartagener syndrome | 3 | Jun 2, 2026 |
| Karyomegalic interstitial nephritis | 2 | Jun 2, 2026 |
| Kaya-Barakat-Masson syndrome | 2 | Oct 10, 2025 |
| Keipert syndrome | 1 | Apr 7, 2025 |
| Keratosis follicularis | 1 | Mar 17, 2026 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Sep 4, 2022 |
| Khan-Khan-Katsanis syndrome | 1 | Oct 10, 2025 |
| Kilquist syndrome | 4 | Jun 2, 2026 |
| Kindler syndrome | 4 | Oct 10, 2025 |
| King Denborough syndrome | 4 | Jun 2, 2026 |
| Kleefstra syndrome 1 | 16 | Jun 2, 2026 |
| Kleefstra syndrome 2 | 17 | Jun 2, 2026 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 3 | Oct 10, 2025 |
| Kniest dysplasia | 2 | Apr 7, 2025 |
| Knobloch syndrome 1 | 6 | Jun 2, 2026 |
| Kohlschutter-Tonz syndrome-like | 2 | Mar 17, 2026 |
| Koolen-de Vries syndrome | 13 | Jun 2, 2026 |
| Kostmann syndrome | 3 | Apr 7, 2025 |
| Kufor-Rakeb syndrome | 2 | Sep 26, 2024 |
| Kury-Isidor syndrome | 2 | Jun 2, 2026 |
| L-2-hydroxyglutaric aciduria | 2 | Oct 10, 2025 |
| LAMA2-related disorder | 7 | Jun 2, 2026 |
| LAMA3-related disorder | 2 | Jun 2, 2026 |
| LAMB2-related disorder | 2 | Jun 2, 2026 |
| LAMB2-related infantile-onset nephrotic syndrome | 7 | Oct 10, 2025 |
| LAMB3-related disorder | 1 | Jun 2, 2026 |
| LBR-related disorder | 1 | Jun 2, 2026 |
| LEF1-related ectodermal dysplasia | 1 | Mar 17, 2026 |
| LEO1-related disorder | 1 | Jun 2, 2026 |
| LEOPARD syndrome 1 | 1 | Jul 18, 2023 |
| LEOPARD syndrome 2 | 1 | Sep 26, 2024 |
| LIPA-related disorder | 2 | Jun 2, 2026 |
| LMBRD2-related disorder | 1 | Mar 25, 2022 |
| LMNA-related disorder | 4 | Jun 2, 2026 |
| LONP1-related disorder | 1 | Jun 2, 2026 |
| LOXL2-related disorder | 1 | Jun 2, 2026 |
| LOXL3-related Stickler syndrome, autosomal recessive | 2 | Oct 10, 2025 |
| LRAT-related disorder | 2 | Jun 2, 2026 |
| LRP5-related disorder | 2 | Jun 2, 2026 |
| LRRC7-related intellectual disability, autism, aggression and abnormal eating behaviors | 1 | Oct 10, 2025 |
| LSR-related disorder | 2 | Jun 2, 2026 |
| LZTR1-related disorder | 1 | Jun 2, 2026 |
| LZTR1-related schwannomatosis | 2 | Oct 10, 2025 |
| Lacrimoauriculodentodigital syndrome 3 | 1 | Jun 2, 2026 |
| Lamb-Shaffer syndrome | 9 | Jun 2, 2026 |
| Lambdoidal craniosynostosis | 3 | Oct 10, 2025 |
| Landau-Kleffner syndrome | 19 | Jun 2, 2026 |
| Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | 3 | Jun 2, 2026 |
| Laron-type isolated somatotropin defect | 10 | Jun 2, 2026 |
| Larsen syndrome | 3 | Oct 10, 2025 |
| Larsen-like syndrome, B3GAT3 type | 1 | Mar 25, 2022 |
| Laryngo-onycho-cutaneous syndrome | 2 | Oct 10, 2025 |
| Late-onset retinal degeneration | 1 | Jun 2, 2026 |
| Lateral meningocele syndrome | 2 | Jun 2, 2026 |
| Lathosterolosis | 1 | Jan 11, 2022 |
| Lazy leukocyte syndrome | 1 | Jun 2, 2026 |
| Leber congenital amaurosis 1 | 12 | Jun 2, 2026 |
| Leber congenital amaurosis 10 | 10 | Jun 2, 2026 |
| Leber congenital amaurosis 13 | 12 | Jun 2, 2026 |
| Leber congenital amaurosis 14 | 2 | Jul 4, 2025 |
| Leber congenital amaurosis 15 | 1 | Mar 25, 2022 |
| Leber congenital amaurosis 19 | 1 | Jun 2, 2026 |
| Leber congenital amaurosis 2 | 11 | Jun 2, 2026 |
| Leber congenital amaurosis 3 | 9 | Jun 2, 2026 |
| Leber congenital amaurosis 4 | 9 | Jun 2, 2026 |
| Leber congenital amaurosis 5 | 2 | Jun 2, 2026 |
| Leber congenital amaurosis 6 | 3 | Jun 2, 2026 |
| Leber congenital amaurosis 7 | 1 | Oct 10, 2025 |
| Leber congenital amaurosis 8 | 8 | Jun 2, 2026 |
| Leber congenital amaurosis 9 | 9 | Jun 2, 2026 |
| Leber optic atrophy and dystonia | 4 | Oct 10, 2025 |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 1 | Oct 10, 2025 |
| Leber-like hereditary optic neuropathy, autosomal recessive 2 | 1 | Sep 26, 2024 |
| Left ventricular noncompaction 1 | 1 | Jun 2, 2026 |
| Left ventricular noncompaction 10 | 1 | Mar 17, 2026 |
| Left ventricular noncompaction 7 | 1 | Apr 7, 2025 |
| Legius syndrome | 6 | Jun 2, 2026 |
| Leigh syndrome | 3 | Nov 5, 2021 |
| Leigh syndrome, mitochondrial | 1 | Oct 10, 2025 |
| Lenz-Majewski hyperostosis syndrome | 1 | Apr 7, 2025 |
| Leprechaunism syndrome | 1 | Jun 2, 2026 |
| Leri-Weill dyschondrosteosis | 2 | Jan 11, 2022 |
| Lesch-Nyhan syndrome | 4 | Jun 2, 2026 |
| Lessel-Kreienkamp syndrome | 8 | Jun 2, 2026 |
| Lethal Kniest-like syndrome | 2 | Sep 26, 2024 |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 3 | Oct 10, 2025 |
| Lethal congenital contracture syndrome 1 | 2 | Sep 26, 2024 |
| Lethal congenital contracture syndrome 11 | 1 | Sep 26, 2024 |
| Lethal congenital contracture syndrome 4 | 1 | Sep 26, 2024 |
| Lethal congenital contracture syndrome 7 | 3 | Sep 26, 2024 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 3 | Sep 26, 2024 |
| Lethal multiple pterygium syndrome | 5 | Jun 2, 2026 |
| Lethal occipital encephalocele-skeletal dysplasia syndrome | 1 | Jul 18, 2023 |
| Lethal osteosclerotic bone dysplasia | 2 | Sep 26, 2024 |
| Leucine-induced hypoglycemia | 1 | Sep 4, 2022 |
| Leukocyte adhesion deficiency 1 | 5 | Oct 10, 2025 |
| Leukocyte adhesion deficiency 3 | 1 | Jun 2, 2026 |
| Leukocyte adhesion deficiency type II | 2 | Oct 10, 2025 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 1 | Jun 2, 2026 |
| Leukodystrophy, hypomyelinating, 14 | 1 | Oct 10, 2025 |
| Leukodystrophy, hypomyelinating, 15 | 4 | Jun 2, 2026 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Jun 2, 2026 |
| Leukodystrophy, hypomyelinating, 17 | 1 | Jun 2, 2026 |
| Leukodystrophy, hypomyelinating, 18 | 3 | Jun 2, 2026 |
| Leukodystrophy, hypomyelinating, 24 | 1 | Jun 2, 2026 |
| Leukodystrophy, hypomyelinating, 25 | 1 | Oct 10, 2025 |
| Leukodystrophy, hypomyelinating, 26, with chondrodysplasia | 2 | Jun 2, 2026 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 15 | Jun 2, 2026 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 4 | Oct 10, 2025 |
| Leukoencephalopathy with calcifications and cysts | 2 | Apr 7, 2025 |
| Leukoencephalopathy with vanishing white matter 2 | 1 | Apr 7, 2025 |
| Leukoencephalopathy with vanishing white matter 3 | 2 | Jun 2, 2026 |
| Leukoencephalopathy with vanishing white matter 4 | 7 | Jun 2, 2026 |
| Leukoencephalopathy with vanishing white matter 5 | 6 | Jun 2, 2026 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 1 | Jun 2, 2026 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 6 | Jun 2, 2026 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 2 | Jun 2, 2026 |
| Leukoencephalopathy, progressive, with ovarian failure | 3 | Oct 10, 2025 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 6 | Jun 2, 2026 |
| Li-Fraumeni syndrome 1 | 4 | Jun 2, 2026 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 2 | Jun 2, 2026 |
| Liang-Wang syndrome | 7 | Jun 2, 2026 |
| Linear nevus sebaceous syndrome | 1 | Jun 2, 2026 |
| Linear skin defects with multiple congenital anomalies 1 | 1 | Oct 10, 2025 |
| Linear skin defects with multiple congenital anomalies 2 | 1 | Sep 26, 2024 |
| Lipid proteinosis | 3 | Jun 2, 2026 |
| Lipoic acid synthetase deficiency | 2 | Jun 2, 2026 |
| Lipoprotein glomerulopathy | 4 | Oct 10, 2025 |
| Lissencephaly 10 | 2 | Jun 2, 2026 |
| Lissencephaly 6 with microcephaly | 1 | Jun 2, 2026 |
| Lissencephaly 7 with cerebellar hypoplasia | 1 | Jun 2, 2026 |
| Lissencephaly 8 | 2 | Jun 2, 2026 |
| Lissencephaly 9 with complex brainstem malformation | 7 | Jun 2, 2026 |
| Lissencephaly due to LIS1 mutation | 8 | Jun 2, 2026 |
| Lissencephaly due to TUBA1A mutation | 13 | Jun 2, 2026 |
| Lissencephaly type 1 due to doublecortin gene mutation | 9 | Jun 2, 2026 |
| Liver disease, severe congenital | 2 | Jun 2, 2026 |
| Loeys-Dietz syndrome 1 | 10 | Jun 2, 2026 |
| Loeys-Dietz syndrome 2 | 14 | Jun 2, 2026 |
| Loeys-Dietz syndrome 4 | 5 | Jun 2, 2026 |
| Long QT syndrome 1 | 15 | Jun 2, 2026 |
| Long QT syndrome 12 | 2 | Apr 7, 2025 |
| Long QT syndrome 2 | 5 | Mar 17, 2026 |
| Long QT syndrome 3 | 6 | Jun 2, 2026 |
| Long QT syndrome 5 | 1 | Sep 4, 2022 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 4 | Jun 2, 2026 |
| Low phospholipid associated cholelithiasis | 2 | Jun 2, 2026 |
| Lowe syndrome | 12 | Jun 2, 2026 |
| Lower motor neuron syndrome with late-adult onset | 1 | Mar 9, 2023 |
| Luo-Schoch-Yamamoto syndrome | 2 | Jun 2, 2026 |
| Luscan-Lumish syndrome | 7 | Oct 10, 2025 |
| Lymphangiomyomatosis | 2 | Sep 26, 2024 |
| Lymphatic malformation 10 | 1 | Oct 10, 2025 |
| Lymphatic malformation 13 | 1 | Oct 10, 2025 |
| Lymphatic malformation 3 | 1 | Oct 10, 2025 |
| Lymphatic malformation 6 | 9 | Jun 2, 2026 |
| Lymphatic malformation 7 | 2 | Oct 10, 2025 |
| Lymphatic malformation 9 | 1 | Oct 10, 2025 |
| Lymphoma, non-Hodgkin, familial | 1 | Jul 18, 2023 |
| Lynch syndrome 1 | 5 | Jun 2, 2026 |
| Lynch syndrome 4 | 2 | Oct 10, 2025 |
| Lynch syndrome 5 | 4 | Jun 2, 2026 |
| Lysinuric protein intolerance | 7 | Jun 2, 2026 |
| Lysosomal acid lipase deficiency | 1 | Mar 9, 2023 |
| MADD-related disorder | 2 | Oct 10, 2025 |
| MAP2K2-related disorder | 1 | Oct 10, 2025 |
| MAP4K4-related autism spectrum disorder | 1 | Jul 4, 2025 |
| MAP4K4-related disorder | 1 | Jun 2, 2026 |
| MASA syndrome | 4 | Oct 10, 2025 |
| MASS syndrome | 1 | Sep 26, 2024 |
| MAST4-related disorder | 1 | Jun 2, 2026 |
| MBD5-related disorder | 1 | Jun 2, 2026 |
| MBTPS2-related disorder | 1 | Oct 10, 2025 |
| MECP2-related disorder | 1 | Jun 2, 2026 |
| MECR-related disorder | 1 | Jun 2, 2026 |
| MED12-Related Disorders | 1 | Oct 10, 2025 |
| MEGF10-related disorder | 1 | Jun 2, 2026 |
| MEGF10-related myopathy | 1 | Jun 2, 2026 |
| MEGF8-related Carpenter syndrome | 1 | Sep 26, 2024 |
| MEHMO syndrome | 2 | Jun 2, 2026 |
| MELAS syndrome | 8 | Oct 10, 2025 |
| MEND syndrome | 1 | Mar 25, 2022 |
| MERRF syndrome | 1 | Oct 10, 2025 |
| MFN2-related disorder | 3 | Jun 2, 2026 |
| MGAT2-congenital disorder of glycosylation | 1 | Jun 2, 2026 |
| MHC class I deficiency | 1 | Jul 18, 2023 |
| MHC class II deficiency | 2 | Mar 9, 2023 |
| MHC class II deficiency 2 | 1 | Jun 2, 2026 |
| MHC class II deficiency 4 | 1 | Jun 2, 2026 |
| MIRAGE syndrome | 3 | Mar 17, 2026 |
| MLLT3-related neuromotor development delay | 1 | Mar 17, 2026 |
| MOGS-congenital disorder of glycosylation | 3 | Sep 26, 2024 |
| MORC2-related disorder | 1 | Jun 2, 2026 |
| MORM syndrome | 3 | Apr 7, 2025 |
| MPDU1-congenital disorder of glycosylation | 1 | Jan 11, 2022 |
| MPI-congenital disorder of glycosylation | 4 | Jun 2, 2026 |
| MPL-related disorder | 1 | Jun 2, 2026 |
| MPZ-related disorder | 13 | Jun 2, 2026 |
| MRTFB-related neurodevelopmental disorder | 2 | Oct 10, 2025 |
| MT-ATP6-related disorder | 4 | Oct 10, 2025 |
| MT-ND1-related disorder | 1 | Oct 10, 2025 |
| MT-ND4-related disorder | 1 | Mar 17, 2026 |
| MT-TF-related mito tubulointerstitial kidney disease (MITKD) | 1 | Oct 10, 2025 |
| MT-TI-related disorder | 1 | Oct 10, 2025 |
| MT-TL1-related disorder | 2 | Mar 17, 2026 |
| MTFMT-related disorder | 1 | Oct 10, 2025 |
| MVK-related disorder | 1 | Jun 2, 2026 |
| MYCBP2-related developmental disorder | 1 | Mar 17, 2026 |
| MYCBP2-related disorder | 4 | Jun 2, 2026 |
| MYCN-related disorder | 1 | Oct 10, 2025 |
| MYH3-related disorder | 2 | Jun 2, 2026 |
| MYH7-related disorder | 7 | Jun 2, 2026 |
| MYH7-related skeletal myopathy | 1 | Mar 25, 2022 |
| MYH7B-related disorder | 3 | Jun 2, 2026 |
| MYH7B-related hypertrophic cardiomyopathy | 3 | Oct 10, 2025 |
| MYO7A-related disorder | 2 | Oct 10, 2025 |
| MYPN-related disorder | 1 | Oct 10, 2025 |
| Macrocephaly, acquired, with impaired intellectual development | 5 | Jun 2, 2026 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 5 | Oct 10, 2025 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 4 | Mar 17, 2026 |
| Macrocephaly-autism syndrome | 22 | Jun 2, 2026 |
| Macrocephaly-developmental delay syndrome | 1 | Sep 26, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 16 | Jun 2, 2026 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 13 | Jun 2, 2026 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 3 | Jun 2, 2026 |
| Macular corneal dystrophy | 1 | Oct 10, 2025 |
| Macular degeneration, early-onset | 3 | Oct 10, 2025 |
| Macular dystrophy with or without cone dysfunction | 1 | Jun 2, 2026 |
| Malan overgrowth syndrome | 7 | Jun 2, 2026 |
| Maleylacetoacetate isomerase deficiency | 1 | Mar 9, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 3 | Jun 2, 2026 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Apr 7, 2025 |
| Mandibuloacral dysplasia progeroid syndrome | 3 | Jun 2, 2026 |
| Mandibulofacial dysostosis with alopecia | 1 | Jun 2, 2026 |
| Mandibulofacial dysostosis-microcephaly syndrome | 11 | Jun 2, 2026 |
| Maple syrup urine disease | 1 | Jan 11, 2022 |
| Maple syrup urine disease type 1A | 16 | Jun 2, 2026 |
| Maple syrup urine disease type 1B | 4 | Jun 2, 2026 |
| Maple syrup urine disease type 2 | 4 | Jun 2, 2026 |
| Marbach-Schaaf neurodevelopmental syndrome | 2 | Oct 10, 2025 |
| Marden-Walker syndrome | 2 | Jun 2, 2026 |
| Marfan syndrome | 98 | Jun 2, 2026 |
| Marinesco-Sjögren syndrome | 5 | Oct 10, 2025 |
| Marshall syndrome | 4 | Oct 10, 2025 |
| Marshall-Smith syndrome | 2 | Jun 2, 2026 |
| Martsolf syndrome 2 | 1 | Sep 4, 2022 |
| Maturity-onset diabetes of the young type 1 | 5 | Jun 2, 2026 |
| Maturity-onset diabetes of the young type 13 | 1 | Mar 25, 2022 |
| Maturity-onset diabetes of the young type 2 | 19 | Jun 2, 2026 |
| Maturity-onset diabetes of the young type 3 | 6 | Jun 2, 2026 |
| Maturity-onset diabetes of the young type 4 | 1 | Jun 2, 2026 |
| Maturity-onset diabetes of the young type 7 | 1 | Jul 2, 2024 |
| McCune-Albright syndrome | 3 | Jun 2, 2026 |
| McKusick-Kaufman syndrome | 2 | Apr 7, 2025 |
| Meckel syndrome 13 | 1 | Jun 2, 2026 |
| Meckel syndrome, type 1 | 3 | Oct 10, 2025 |
| Meckel syndrome, type 3 | 1 | Mar 9, 2023 |
| Meckel syndrome, type 4 | 5 | Jun 2, 2026 |
| Meckel syndrome, type 6 | 3 | Oct 10, 2025 |
| Meckel syndrome, type 8 | 1 | Sep 26, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 7 | Jun 2, 2026 |
| Medulloblastoma | 1 | Jun 2, 2026 |
| Meester-Loeys syndrome | 1 | Jun 2, 2026 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 2 | Apr 7, 2025 |
| Megaconial type congenital muscular dystrophy | 5 | Jun 2, 2026 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 | Sep 26, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 2 | Apr 7, 2025 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 3 | Jun 2, 2026 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 11 | Jun 2, 2026 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 13 | Jun 2, 2026 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 4 | Jun 2, 2026 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 4 | Oct 10, 2025 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 2 | Apr 7, 2025 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | Oct 10, 2025 |
| Meier-Gorlin syndrome 1 | 4 | Oct 10, 2025 |
| Melnick-Needles syndrome | 2 | Jun 2, 2026 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 5 | Jun 2, 2026 |
| Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | 2 | Jun 2, 2026 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 2 | Jun 2, 2026 |
| Menke-Hennekam syndrome 1 | 5 | Jun 2, 2026 |
| Menke-Hennekam syndrome 2 | 5 | Jun 2, 2026 |
| Menkes kinky-hair syndrome | 19 | Jun 2, 2026 |
| Merosin deficient congenital muscular dystrophy | 30 | Jun 2, 2026 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 1 | Oct 10, 2025 |
| Metachromatic leukodystrophy | 44 | Jun 2, 2026 |
| Metaphyseal chondrodysplasia, McKusick type | 5 | Oct 10, 2025 |
| Metaphyseal chondrodysplasia, Schmid type | 6 | Jun 2, 2026 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 2 | Oct 10, 2025 |
| Methemoglobinemia, alpha type | 1 | Jul 18, 2023 |
| Methylcobalamin deficiency type cblE | 2 | Mar 9, 2023 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 | Oct 10, 2025 |
| Methylmalonic acidemia with homocystinuria, type cblX | 4 | Jun 2, 2026 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | May 28, 2022 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 23 | Jun 2, 2026 |
| Methylmalonic aciduria, cblA type | 4 | Jun 2, 2026 |
| Methylmalonic aciduria, cblB type | 6 | Oct 10, 2025 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 6 | Apr 7, 2025 |
| Microcephalic osteodysplastic primordial dwarfism type II | 11 | Jun 2, 2026 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 7 | Jun 2, 2026 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 2 | Jun 2, 2026 |
| Microcephalic primordial dwarfism, Alazami type | 2 | Sep 26, 2024 |
| Microcephaly 1, primary, autosomal recessive | 5 | Sep 26, 2024 |
| Microcephaly 13, primary, autosomal recessive | 1 | Apr 7, 2025 |
| Microcephaly 16, primary, autosomal recessive | 1 | Oct 10, 2025 |
| Microcephaly 17, primary, autosomal recessive | 1 | Jan 11, 2022 |
| Microcephaly 18, primary, autosomal dominant | 4 | Jun 2, 2026 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 13 | Jun 2, 2026 |
| Microcephaly 24, primary, autosomal recessive | 1 | Apr 7, 2025 |
| Microcephaly 26, primary, autosomal dominant | 2 | Oct 10, 2025 |
| Microcephaly 4, primary, autosomal recessive | 3 | Dec 7, 2024 |
| Microcephaly 5, primary, autosomal recessive | 29 | Jun 2, 2026 |
| Microcephaly 6, primary, autosomal recessive | 5 | Jun 2, 2026 |
| Microcephaly 7, primary, autosomal recessive | 5 | Sep 26, 2024 |
| Microcephaly 8, primary, autosomal recessive | 2 | Sep 4, 2022 |
| Microcephaly 9, primary, autosomal recessive | 3 | Sep 26, 2024 |
| Microcephaly and chorioretinopathy 1 | 5 | Mar 17, 2026 |
| Microcephaly and chorioretinopathy 2 | 1 | Jun 2, 2026 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 14 | Jun 2, 2026 |
| Microcephaly, developmental delay, and brittle hair syndrome | 2 | Jan 11, 2022 |
| Microcephaly, epilepsy, and diabetes syndrome 1 | 1 | Jun 2, 2026 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 1 | Jan 11, 2022 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 | Sep 26, 2024 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 1 | Sep 4, 2022 |
| Microcephaly, normal intelligence and immunodeficiency | 2 | Apr 7, 2025 |
| Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia | 1 | Jun 2, 2026 |
| Microcephaly, seizures, and developmental delay | 2 | Apr 7, 2025 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 2 | Oct 10, 2025 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 1 | May 28, 2022 |
| Microcephaly, short stature, and limb abnormalities | 3 | Jun 2, 2026 |
| Microcephaly-capillary malformation syndrome | 1 | Jan 11, 2022 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 5 | Oct 10, 2025 |
| Microcephaly-micromelia syndrome | 1 | Jun 2, 2026 |
| Microcornea-myopic chorioretinal atrophy | 1 | Apr 7, 2025 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 12 | Jun 2, 2026 |
| Microphthalmia with brain and digit anomalies | 1 | Oct 10, 2025 |
| Microphthalmia with limb anomalies | 1 | Oct 10, 2025 |
| Microphthalmia, isolated, with coloboma 10 | 1 | Oct 10, 2025 |
| Microphthalmia, isolated, with coloboma 3 | 2 | Apr 7, 2025 |
| Microphthalmia, syndromic 12 | 4 | Jun 2, 2026 |
| Microphthalmia, syndromic 9 | 1 | Jun 2, 2026 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2 | Apr 7, 2025 |
| Migraine, familial hemiplegic, 1 | 1 | Mar 25, 2022 |
| Migraine, familial hemiplegic, 2 | 3 | Jun 2, 2026 |
| Migraine, familial hemiplegic, 3 | 1 | Jun 2, 2026 |
| Miller syndrome | 4 | Jun 2, 2026 |
| Mismatch repair cancer syndrome 2 | 1 | Oct 10, 2025 |
| Mismatch repair cancer syndrome 3 | 1 | Apr 7, 2025 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 2 | Jun 2, 2026 |
| Mitochondrial DNA depletion syndrome 1 | 3 | Oct 10, 2025 |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 3 | Apr 7, 2025 |
| Mitochondrial DNA depletion syndrome 13 | 5 | Jun 2, 2026 |
| Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) | 2 | Jun 2, 2026 |
| Mitochondrial DNA depletion syndrome 17 | 1 | Oct 10, 2025 |
| Mitochondrial DNA depletion syndrome 18 | 1 | May 28, 2022 |
| Mitochondrial DNA depletion syndrome 20 (mngie type) | 2 | Jun 2, 2026 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2 | Apr 7, 2025 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 4 | Jun 2, 2026 |
| Mitochondrial DNA depletion syndrome 8a | 3 | Oct 10, 2025 |
| Mitochondrial DNA depletion syndrome 9 | 8 | Jun 2, 2026 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 6 | Jun 2, 2026 |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 | Jun 2, 2026 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 2 | Jun 2, 2026 |
| Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 | 2 | Oct 10, 2025 |
| Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 | 2 | Oct 10, 2025 |
| Mitochondrial complex I deficiency, mitochondrial type 1 | 1 | Oct 10, 2025 |
| Mitochondrial complex I deficiency, nuclear type 1 | 4 | Jun 2, 2026 |
| Mitochondrial complex I deficiency, nuclear type 15 | 1 | Jun 2, 2026 |
| Mitochondrial complex I deficiency, nuclear type 16 | 1 | Sep 26, 2024 |
| Mitochondrial complex I deficiency, nuclear type 17 | 11 | Oct 10, 2025 |
| Mitochondrial complex I deficiency, nuclear type 19 | 1 | Jun 2, 2026 |
| Mitochondrial complex I deficiency, nuclear type 2 | 3 | Jun 2, 2026 |
| Mitochondrial complex I deficiency, nuclear type 21 | 1 | Sep 26, 2024 |
| Mitochondrial complex I deficiency, nuclear type 25 | 1 | Oct 10, 2025 |
| Mitochondrial complex I deficiency, nuclear type 30 | 1 | Oct 10, 2025 |
| Mitochondrial complex I deficiency, nuclear type 4 | 7 | Jun 2, 2026 |
| Mitochondrial complex I deficiency, nuclear type 5 | 6 | Jun 2, 2026 |
| Mitochondrial complex I deficiency, nuclear type 6 | 1 | Sep 26, 2024 |
| Mitochondrial complex I deficiency, nuclear type 7 | 2 | Oct 10, 2025 |
| Mitochondrial complex I deficiency, nuclear type 8 | 1 | Oct 10, 2025 |
| Mitochondrial complex I deficiency, nuclear type 9 | 1 | Sep 26, 2024 |
| Mitochondrial complex II deficiency, nuclear type 1 | 5 | Jun 2, 2026 |
| Mitochondrial complex III deficiency nuclear type 1 | 1 | Oct 10, 2025 |
| Mitochondrial complex III deficiency nuclear type 2 | 4 | Jun 2, 2026 |
| Mitochondrial complex III deficiency nuclear type 4 | 1 | Oct 10, 2025 |
| Mitochondrial complex III deficiency nuclear type 5 | 2 | Mar 9, 2023 |
| Mitochondrial complex III deficiency nuclear type 8 | 1 | May 28, 2022 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 11 | Jun 2, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 11 | 3 | Oct 10, 2025 |
| Mitochondrial complex IV deficiency, nuclear type 14 | 1 | Oct 10, 2025 |
| Mitochondrial complex IV deficiency, nuclear type 17 | 2 | Jan 11, 2022 |
| Mitochondrial complex IV deficiency, nuclear type 21 | 2 | Jun 2, 2026 |
| Mitochondrial complex IV deficiency, nuclear type 8 | 1 | Jan 11, 2022 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | May 28, 2022 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 3 | Oct 10, 2025 |
| Mitochondrial dna depletion syndrome 21 | 1 | Jun 2, 2026 |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 2 | Jun 2, 2026 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 8 | Jun 2, 2026 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 2 | Oct 10, 2025 |
| Mitochondrial non-syndromic sensorineural hearing loss | 1 | Dec 5, 2025 |
| Mitochondrial pyruvate carrier deficiency | 1 | Oct 10, 2025 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 8 | Jun 2, 2026 |
| Mitochondrial trifunctional protein deficiency | 1 | Jul 18, 2023 |
| Mitochondrial trifunctional protein deficiency 1 | 3 | Jun 2, 2026 |
| Mitochondrial trifunctional protein deficiency 2 | 4 | Jun 2, 2026 |
| Miyoshi muscular dystrophy 1 | 10 | Jun 2, 2026 |
| Miyoshi muscular dystrophy 3 | 2 | Oct 10, 2025 |
| Monilethrix-1 | 1 | Oct 10, 2025 |
| Monocytopenia with susceptibility to infections | 1 | Apr 7, 2025 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 4 | Jun 2, 2026 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 1 | Oct 10, 2025 |
| Mosaic variegated aneuploidy syndrome 1 | 2 | Nov 5, 2021 |
| Mosaic variegated aneuploidy syndrome 4 | 1 | Jul 4, 2025 |
| Mowat-Wilson syndrome | 27 | Jun 2, 2026 |
| Moyamoya disease 2 | 7 | Jun 2, 2026 |
| Moyamoya disease 7 | 1 | Oct 10, 2025 |
| Mucocutaneous ulceration, chronic | 1 | May 28, 2022 |
| Mucolipidosis type II | 7 | Jun 2, 2026 |
| Mucolipidosis type IV | 3 | Oct 10, 2025 |
| Mucopolysaccharidosis type 6 | 6 | Jun 2, 2026 |
| Mucopolysaccharidosis type 7 | 5 | Oct 10, 2025 |
| Mucopolysaccharidosis, MPS-I-H/S | 6 | Jun 2, 2026 |
| Mucopolysaccharidosis, MPS-I-S | 1 | Jun 2, 2026 |
| Mucopolysaccharidosis, MPS-II | 17 | Jun 2, 2026 |
| Mucopolysaccharidosis, MPS-III-A | 14 | Jun 2, 2026 |
| Mucopolysaccharidosis, MPS-III-B | 13 | Jun 2, 2026 |
| Mucopolysaccharidosis, MPS-III-C | 2 | Oct 10, 2025 |
| Mucopolysaccharidosis, MPS-III-D | 4 | Sep 26, 2024 |
| Mucopolysaccharidosis, MPS-IV-A | 19 | Jun 2, 2026 |
| Mucopolysaccharidosis, MPS-IV-B | 3 | Oct 10, 2025 |
| Muenke syndrome | 2 | Jun 2, 2026 |
| Muir-Torré syndrome | 1 | Oct 10, 2025 |
| Mulibrey nanism syndrome | 3 | Jun 2, 2026 |
| Mullegama-Klein-Martinez syndrome | 3 | Jun 2, 2026 |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 | Jun 2, 2026 |
| Multicentric osteolysis, nodulosis, and arthropathy | 3 | Jun 2, 2026 |
| Multiple acyl-CoA dehydrogenase deficiency | 14 | Jun 2, 2026 |
| Multiple benign circumferential skin creases on limbs 1 | 1 | Mar 9, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 10 | Jun 2, 2026 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 4 | Jun 2, 2026 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 4 | Oct 10, 2025 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Mar 9, 2023 |
| Multiple cutaneous and mucosal venous malformations | 1 | Jun 2, 2026 |
| Multiple endocrine neoplasia type 2B | 1 | Oct 10, 2025 |
| Multiple endocrine neoplasia type 4 | 1 | Jan 11, 2022 |
| Multiple endocrine neoplasia, type 1 | 2 | Oct 10, 2025 |
| Multiple epiphyseal dysplasia type 1 | 3 | Jun 2, 2026 |
| Multiple epiphyseal dysplasia type 4 | 4 | Apr 7, 2025 |
| Multiple epiphyseal dysplasia type 5 | 2 | Oct 10, 2025 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 1 | Sep 26, 2024 |
| Multiple epiphyseal dysplasia, Beighton type | 1 | Apr 7, 2025 |
| Multiple mitochondrial dysfunctions syndrome 2 | 2 | Jun 2, 2026 |
| Multiple mitochondrial dysfunctions syndrome 3 | 8 | Jun 2, 2026 |
| Multiple mitochondrial dysfunctions syndrome 4 | 3 | Jun 2, 2026 |
| Multiple mitochondrial dysfunctions syndrome 9b | 2 | Jun 2, 2026 |
| Multiple sulfatase deficiency | 2 | Oct 10, 2025 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Apr 7, 2025 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 1 | Jun 2, 2026 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 24 | Jun 2, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Jun 2, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 4 | Jun 2, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2 | Jun 2, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 4 | Oct 10, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2 | Jun 2, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2 | Jun 2, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 | Oct 10, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2 | Apr 7, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Oct 10, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 2 | Jun 2, 2026 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 | Apr 7, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 | Jan 11, 2022 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 1 | Oct 10, 2025 |
| Muscular dystrophy-dystroglycanopathy type B5 | 6 | Jun 2, 2026 |
| Myasthenic syndrome, congenital, 1B, fast-channel | 2 | Oct 10, 2025 |
| Myasthenic syndrome, congenital, 22 | 2 | Oct 10, 2025 |
| Myasthenic syndrome, congenital, 23, presynaptic | 1 | Oct 10, 2025 |
| Myasthenic syndrome, congenital, 24, presynaptic | 1 | Oct 10, 2025 |
| Myasthenic syndrome, congenital, 25, presynaptic | 1 | Jun 2, 2026 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 1 | Jun 2, 2026 |
| Myelodysplastic syndrome | 3 | Jun 2, 2026 |
| Myhre syndrome | 4 | Jun 2, 2026 |
| Myoclonic dystonia 11 | 11 | Jun 2, 2026 |
| Myoclonic dystonia 26 | 1 | Jun 2, 2026 |
| Myoclonic epilepsy of Lafora 1 | 1 | Apr 7, 2025 |
| Myoclonus, intractable, neonatal | 2 | Oct 10, 2025 |
| Myofibrillar myopathy 11 | 2 | Apr 7, 2025 |
| Myofibrillar myopathy 4 | 1 | Apr 7, 2025 |
| Myofibrillar myopathy 8 | 1 | Jun 2, 2026 |
| Myoglobinuria, acute recurrent, autosomal recessive | 3 | Apr 7, 2025 |
| Myopathy with abnormal lipid metabolism | 1 | Mar 17, 2026 |
| Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | 2 | Oct 10, 2025 |
| Myopathy, centronuclear, 5 | 2 | Apr 7, 2025 |
| Myopathy, congenital proximal, with minicore lesions | 1 | Jun 2, 2026 |
| Myopathy, congenital, progressive, with scoliosis | 2 | Oct 10, 2025 |
| Myopathy, congenital, with tremor | 3 | Jun 2, 2026 |
| Myopathy, distal, 5 | 2 | Jun 2, 2026 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 1 | Oct 10, 2025 |
| Myopathy, distal, 7, adult-onset, X-linked | 1 | Jun 2, 2026 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 2 | Jun 2, 2026 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 2 | Sep 4, 2022 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 2 | Oct 10, 2025 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 | Oct 10, 2025 |
| Myopathy, proximal, and ophthalmoplegia | 7 | Oct 10, 2025 |
| Myopathy, reducing body, X-linked, childhood-onset | 1 | Oct 10, 2025 |
| Myopathy, tubular aggregate, 1 | 2 | Oct 10, 2025 |
| Myopia 22, autosomal dominant | 1 | Oct 10, 2025 |
| Myopia 23, autosomal recessive | 3 | Jun 2, 2026 |
| Myopia 25, autosomal dominant | 1 | Oct 10, 2025 |
| Myopia 26, X-linked, female-limited | 1 | Oct 10, 2025 |
| Myopia 27 | 1 | Oct 10, 2025 |
| Myopia, high, with cataract and vitreoretinal degeneration | 5 | Jun 2, 2026 |
| Myosin storage myopathy | 4 | Jun 2, 2026 |
| NAA10-related disorder | 2 | Jun 2, 2026 |
| NAD(P)HX dehydratase deficiency | 3 | Mar 9, 2023 |
| NAGA-related disorder | 2 | Jun 2, 2026 |
| NARP syndrome | 1 | Apr 7, 2025 |
| NCKAP1-related disorder | 1 | Jun 2, 2026 |
| NCKAP1-related neurodevelopmental disorder with autism features | 2 | Oct 10, 2025 |
| NDC1-related disorder | 1 | Oct 10, 2025 |
| NEB-related disorder | 1 | Jun 2, 2026 |
| NEFL-related disorder | 2 | Oct 10, 2025 |
| NEURL4-related disorder | 1 | Jan 11, 2022 |
| NF1-related disorder | 3 | Jun 2, 2026 |
| NFIX-related disorder | 6 | Jun 2, 2026 |
| NFU1-related disorder | 1 | Jun 2, 2026 |
| NKX2-1-Related Disorders | 1 | Oct 10, 2025 |
| NKX2-5-related disorder | 1 | Jun 2, 2026 |
| NPC1-related disorder | 9 | Jun 2, 2026 |
| NPHP3-related disorder | 4 | Jun 2, 2026 |
| NR2E3-related disorder | 1 | Jun 2, 2026 |
| NRAP-related disorder | 2 | Jun 2, 2026 |
| NRAS-related disorder | 1 | Oct 10, 2025 |
| NRXN2-related developmental disorder | 1 | Oct 10, 2025 |
| NRXN2-related disorder | 1 | Jun 2, 2026 |
| NRXN3-related disorder | 2 | Jun 2, 2026 |
| NSD2-related disorder | 1 | Jun 2, 2026 |
| Nail-patella syndrome | 5 | Jun 2, 2026 |
| Nail-patella-like renal disease | 1 | Sep 26, 2024 |
| Nance-Horan syndrome | 2 | Oct 10, 2025 |
| Nanophthalmos 1 | 1 | Mar 17, 2026 |
| Nemaline myopathy 10 | 1 | Jan 11, 2022 |
| Nemaline myopathy 2 | 27 | Jun 2, 2026 |
| Nemaline myopathy 5 | 1 | Jun 2, 2026 |
| Nemaline myopathy 5B, autosomal recessive, childhood-onset | 1 | Apr 7, 2025 |
| Nemaline myopathy 8 | 5 | Jun 2, 2026 |
| Neonatal diabetes mellitus with congenital hypothyroidism | 2 | Jun 2, 2026 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 5 | Oct 10, 2025 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 4 | Jun 2, 2026 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 1 | Jun 2, 2026 |
| Neonatal-onset encephalopathy with rigidity and seizures | 4 | Jun 2, 2026 |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 | Mar 25, 2022 |
| Nephronophthisis 1 | 3 | Oct 10, 2025 |
| Nephronophthisis 11 | 2 | Jul 4, 2025 |
| Nephronophthisis 12 | 5 | Jun 2, 2026 |
| Nephronophthisis 13 | 2 | Jun 2, 2026 |
| Nephronophthisis 14 | 1 | Jan 11, 2022 |
| Nephronophthisis 15 | 1 | Jan 11, 2022 |
| Nephronophthisis 16 | 3 | Oct 10, 2025 |
| Nephronophthisis 18 | 4 | Jun 2, 2026 |
| Nephronophthisis 20 | 1 | Mar 25, 2022 |
| Nephronophthisis 3 | 6 | Jun 2, 2026 |
| Nephronophthisis 4 | 7 | Jun 2, 2026 |
| Nephronophthisis 9 | 1 | Jun 2, 2026 |
| Nephropathic cystinosis | 11 | Jun 2, 2026 |
| Nephrotic syndrome 14 | 2 | Oct 10, 2025 |
| Nephrotic syndrome 15 | 1 | May 28, 2022 |
| Nephrotic syndrome, IIa 26 | 10 | Oct 10, 2025 |
| Nephrotic syndrome, type 11 | 5 | Oct 10, 2025 |
| Nephrotic syndrome, type 12 | 5 | Jun 2, 2026 |
| Nephrotic syndrome, type 18 | 4 | Sep 4, 2022 |
| Nephrotic syndrome, type 19 | 2 | Oct 10, 2025 |
| Nephrotic syndrome, type 2 | 21 | Jun 2, 2026 |
| Nephrotic syndrome, type 20 | 3 | Jun 2, 2026 |
| Nephrotic syndrome, type 21 | 3 | Oct 10, 2025 |
| Nephrotic syndrome, type 22 | 1 | Jan 11, 2022 |
| Nephrotic syndrome, type 24 | 1 | Sep 4, 2022 |
| Nephrotic syndrome, type 3 | 7 | Jun 2, 2026 |
| Nephrotic syndrome, type 4 | 9 | Jun 2, 2026 |
| Nephrotic syndrome, type 9 | 13 | Jun 2, 2026 |
| Netherton syndrome | 13 | Jun 2, 2026 |
| Neu-Laxova syndrome 1 | 1 | Sep 26, 2024 |
| Neural tube defects, folate-sensitive | 1 | Jun 2, 2026 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 2 | Jun 2, 2026 |
| Neurodegeneration with brain iron accumulation 2B | 4 | Jun 2, 2026 |
| Neurodegeneration with brain iron accumulation 4 | 4 | Jun 2, 2026 |
| Neurodegeneration with brain iron accumulation 5 | 23 | Jun 2, 2026 |
| Neurodegeneration with brain iron accumulation 6 | 2 | Jun 2, 2026 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Apr 7, 2025 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 6 | Jun 2, 2026 |
| Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | 1 | Sep 4, 2022 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 4 | Jun 2, 2026 |
| Neurodegeneration, infantile-onset, biotin-responsive | 2 | Oct 10, 2025 |
| Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 9 | Jun 2, 2026 |
| Neurodevelopmental disorder with absent language and variable seizures | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 2 | Sep 26, 2024 |
| Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 1 | Apr 7, 2025 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 6 | Jun 2, 2026 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 8 | Oct 10, 2025 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 1 | Apr 7, 2025 |
| Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 9 | Jun 2, 2026 |
| Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 14 | Jun 2, 2026 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 9 | Jun 2, 2026 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 3 | Oct 10, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 2 | Apr 7, 2025 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with dystonia and seizures | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 1 | Jul 18, 2023 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder with hearing loss and spasticity | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 10 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with hypotonia and dysmorphic facies | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | 3 | Mar 17, 2026 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 14 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 7 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech | 1 | Jan 18, 2026 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 2 | Jul 18, 2023 |
| Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 7 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 18 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | 2 | Apr 7, 2025 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 2 | Sep 26, 2024 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 8 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 6 | Jun 2, 2026 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 10 | Jun 2, 2026 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with infantile epileptic spasms | 2 | Jan 11, 2022 |
| Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with involuntary movements | 8 | Jun 2, 2026 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with language delay and variable cognitive abnormalities | 6 | Jun 2, 2026 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 13 | Jun 2, 2026 |
| Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with microcephaly and movement abnormalities | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 3 | Oct 10, 2025 |
| Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 4 | Oct 10, 2025 |
| Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | 3 | Oct 10, 2025 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 2 | Oct 10, 2025 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 2 | Apr 7, 2025 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | 1 | Apr 7, 2025 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with microcephaly, short stature, and speech delay | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Apr 7, 2025 |
| Neurodevelopmental disorder with neuromuscular and skeletal abnormalities | 3 | Oct 10, 2025 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 6 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without autism or seizures | 12 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 18 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 15 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 9 | Jun 2, 2026 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 6 | Jun 2, 2026 |
| Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities | 1 | Mar 17, 2026 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 2 | Jan 11, 2022 |
| Neurodevelopmental disorder with progressive movement abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with progressive spasticity and brain abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 | Apr 7, 2025 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 13 | Jun 2, 2026 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 1 | Oct 10, 2025 |
| Neurodevelopmental disorder with seizures and brain atrophy | 1 | Apr 7, 2025 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | 1 | Jun 2, 2026 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 1 | Jul 4, 2025 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 4 | Jun 2, 2026 |
| Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 1 | Apr 7, 2025 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | 2 | May 26, 2025 |
| Neurodevelopmental disorder with speech delay and behavioral abnormalities | 2 | Jun 2, 2026 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 5 | Mar 17, 2026 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language | 3 | Jun 2, 2026 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 3 | Apr 7, 2025 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 5 | Jun 2, 2026 |
| Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 2 | Jun 2, 2026 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 15 | Jun 2, 2026 |
| Neuroferritinopathy | 1 | Nov 5, 2021 |
| Neurofibromatosis, type 1 | 222 | Jun 2, 2026 |
| Neurofibromatosis, type 2 | 8 | Jun 2, 2026 |
| Neurofibromatosis-Noonan syndrome | 11 | Oct 10, 2025 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 | Jan 11, 2022 |
| Neurohypophyseal diabetes insipidus | 1 | Oct 10, 2025 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 4 | Jun 2, 2026 |
| Neuromuscular disorder, congenital, with dysmorphic facies | 1 | Oct 10, 2025 |
| Neuronal ceroid lipofuscinosis 1 | 9 | Jun 2, 2026 |
| Neuronal ceroid lipofuscinosis 10 | 1 | Oct 10, 2025 |
| Neuronal ceroid lipofuscinosis 11 | 2 | Jun 2, 2026 |
| Neuronal ceroid lipofuscinosis 13 | 2 | Oct 10, 2025 |
| Neuronal ceroid lipofuscinosis 2 | 15 | Jun 2, 2026 |
| Neuronal ceroid lipofuscinosis 3 | 11 | Jun 2, 2026 |
| Neuronal ceroid lipofuscinosis 5 | 2 | Jun 2, 2026 |
| Neuronal ceroid lipofuscinosis 7 | 13 | Jun 2, 2026 |
| Neuronal ceroid lipofuscinosis 8 | 6 | Jun 2, 2026 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 | Jan 11, 2022 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 6 | Jun 2, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 8 | Jun 2, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 6 | Jun 2, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | Jun 2, 2026 |
| Neuronopathy, distal hereditary motor, autosomal recessive 9 | 2 | Oct 10, 2025 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Jan 11, 2022 |
| Neuronopathy, distal hereditary motor, type 5A | 2 | Jul 18, 2023 |
| Neuronopathy, distal hereditary motor, type 9 | 2 | Jun 2, 2026 |
| Neuroocular syndrome | 4 | Sep 4, 2022 |
| Neuroocular syndrome 1 | 2 | Jun 2, 2026 |
| Neurooculocardiogenitourinary syndrome | 2 | Jun 2, 2026 |
| Neurooculorenal syndrome | 4 | Jun 2, 2026 |
| Neuropathy, congenital hypomyelinating, 2 | 2 | Oct 10, 2025 |
| Neuropathy, congenital hypomyelinating, 3 | 4 | Oct 10, 2025 |
| Neuropathy, hereditary sensory, type 1F | 1 | Oct 10, 2025 |
| Neutral 1 amino acid transport defect | 1 | Mar 25, 2022 |
| Neutral lipid storage myopathy | 2 | Apr 7, 2025 |
| Neutropenia, severe congenital, 1, autosomal dominant | 3 | Jun 2, 2026 |
| Neutropenia, severe congenital, 12, autosomal recessive | 1 | Jun 2, 2026 |
| Neutropenia, severe congenital, 8, autosomal dominant | 1 | Jun 2, 2026 |
| Newfoundland cone-rod dystrophy | 2 | May 28, 2022 |
| Nicolaides-Baraitser syndrome | 20 | Jun 2, 2026 |
| Niemann-Pick disease, type A | 7 | Jun 2, 2026 |
| Niemann-Pick disease, type B | 4 | Oct 10, 2025 |
| Niemann-Pick disease, type C1 | 23 | Jun 2, 2026 |
| Night blindness, congenital stationary, type1i | 4 | Jun 2, 2026 |
| Nil-Deshwar neurodevelopmental syndrome | 2 | Jun 2, 2026 |
| Nizon-Isidor syndrome | 4 | Jun 2, 2026 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 2 | Sep 26, 2024 |
| Nonsyndromic congenital nail disorder 1 | 2 | Apr 7, 2025 |
| Nonsyndromic congenital nail disorder 3 | 1 | Jan 11, 2022 |
| Noonan syndrome 1 | 51 | Jun 2, 2026 |
| Noonan syndrome 10 | 8 | Jun 2, 2026 |
| Noonan syndrome 11 | 2 | Oct 10, 2025 |
| Noonan syndrome 12 | 2 | Jun 2, 2026 |
| Noonan syndrome 13 | 2 | Jun 2, 2026 |
| Noonan syndrome 2 | 12 | Jun 2, 2026 |
| Noonan syndrome 3 | 10 | Oct 10, 2025 |
| Noonan syndrome 4 | 23 | Jun 2, 2026 |
| Noonan syndrome 5 | 20 | Jun 2, 2026 |
| Noonan syndrome 6 | 6 | Jun 2, 2026 |
| Noonan syndrome 7 | 11 | Jun 2, 2026 |
| Noonan syndrome 8 | 13 | Jun 2, 2026 |
| Noonan syndrome 9 | 1 | Jun 2, 2026 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 4 | Jun 2, 2026 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 4 | Jun 2, 2026 |
| Norman-Roberts syndrome | 1 | Sep 26, 2024 |
| Nystagmus 1, congenital, X-linked | 7 | Jun 2, 2026 |
| Nystagmus, congenital, autosomal recessive | 1 | Sep 26, 2024 |
| O'Donnell-Luria-Rodan syndrome | 8 | Jun 2, 2026 |
| OCRL-related disorder | 1 | Oct 10, 2025 |
| OFD1-related disorder | 2 | Jun 2, 2026 |
| OPA1-related disorder | 1 | Jun 2, 2026 |
| OSMR-related Atopic disorder | 1 | Oct 10, 2025 |
| Obesity due to leptin receptor gene deficiency | 1 | May 28, 2022 |
| Obesity due to pro-opiomelanocortin deficiency | 1 | Jun 2, 2026 |
| Obesity due to prohormone convertase I deficiency | 2 | Jan 11, 2022 |
| Obesity, hyperphagia, and developmental delay | 1 | Oct 10, 2025 |
| Occipital pachygyria and polymicrogyria | 2 | Jun 2, 2026 |
| Occult macular dystrophy | 1 | Oct 10, 2025 |
| Ocular albinism, type I | 6 | Jun 2, 2026 |
| Oculocerebrofacial syndrome, Kaufman type | 6 | Jun 2, 2026 |
| Oculocutaneous albinism type 1A | 7 | May 26, 2025 |
| Oculocutaneous albinism type 1B | 1 | Oct 10, 2025 |
| Oculocutaneous albinism type 3 | 4 | Jun 2, 2026 |
| Oculocutaneous albinism type 4 | 11 | Jun 2, 2026 |
| Oculodentodigital dysplasia | 4 | Jun 2, 2026 |
| Oculofaciocardiodental syndrome | 6 | Jun 2, 2026 |
| Oculopharyngeal muscular dystrophy 2 | 1 | Oct 10, 2025 |
| Oculotrichoanal syndrome | 5 | Oct 10, 2025 |
| Oculovertebral syndrome | 1 | Jun 2, 2026 |
| Odonto-onycho-dermal dysplasia | 1 | Jun 2, 2026 |
| Odontochondrodysplasia 1 | 1 | Sep 26, 2024 |
| Ogden syndrome | 10 | Jun 2, 2026 |
| Oguchi disease-1 | 1 | Oct 10, 2025 |
| Oguchi disease-2 | 3 | Jun 2, 2026 |
| Okur-Chung neurodevelopmental syndrome | 12 | Jun 2, 2026 |
| Olmsted syndrome 1 | 1 | Jun 2, 2026 |
| Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | 1 | Apr 7, 2025 |
| Oocyte maturation defect 4 | 1 | Jun 2, 2026 |
| Opsismodysplasia | 2 | Jun 2, 2026 |
| Optic atrophy 12 | 2 | Jun 2, 2026 |
| Optic atrophy 13 with retinal and foveal abnormalities | 1 | May 28, 2022 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 2 | Jun 2, 2026 |
| Ornithine aminotransferase deficiency | 3 | Oct 10, 2025 |
| Ornithine carbamoyltransferase deficiency | 12 | Jun 2, 2026 |
| Orofacial cleft 6, susceptibility to | 1 | Jan 11, 2022 |
| Orofaciodigital syndrome 21 | 1 | Jun 2, 2026 |
| Orofaciodigital syndrome I | 6 | Jun 2, 2026 |
| Orofaciodigital syndrome type 14 | 4 | Jun 2, 2026 |
| Orofaciodigital syndrome type 6 | 9 | Jun 2, 2026 |
| Oroticaciduria | 1 | Jul 18, 2023 |
| Osteochondritis dissecans | 1 | Jan 11, 2022 |
| Osteocraniostenosis | 1 | Sep 26, 2024 |
| Osteodysplastic primordial dwarfism, type 1 | 2 | Jun 2, 2026 |
| Osteogenesis imperfecta type 11 | 3 | Jun 2, 2026 |
| Osteogenesis imperfecta type 12 | 1 | Jun 2, 2026 |
| Osteogenesis imperfecta type 13 | 2 | Sep 26, 2024 |
| Osteogenesis imperfecta type 14 | 2 | Jun 2, 2026 |
| Osteogenesis imperfecta type 15 | 4 | Jun 2, 2026 |
| Osteogenesis imperfecta type 16 | 1 | May 28, 2022 |
| Osteogenesis imperfecta type 5 | 3 | Mar 17, 2026 |
| Osteogenesis imperfecta type 6 | 5 | Jun 2, 2026 |
| Osteogenesis imperfecta type 7 | 6 | Jun 2, 2026 |
| Osteogenesis imperfecta type 8 | 3 | Jun 2, 2026 |
| Osteogenesis imperfecta type I | 23 | Jun 2, 2026 |
| Osteogenesis imperfecta type III | 16 | Jun 2, 2026 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 19 | Jun 2, 2026 |
| Osteogenesis imperfecta, perinatal lethal | 8 | Jun 2, 2026 |
| Osteogenesis imperfecta, type 18 | 1 | Jun 2, 2026 |
| Osteogenesis imperfecta, type 19 | 1 | Jun 2, 2026 |
| Osteogenesis imperfecta, type 20 | 1 | Apr 7, 2025 |
| Osteoglophonic dysplasia | 1 | Jun 2, 2026 |
| Osteopathia striata with cranial sclerosis | 4 | Oct 10, 2025 |
| Osteopetrosis with renal tubular acidosis | 4 | Jun 2, 2026 |
| Osteoporosis with pseudoglioma | 7 | Oct 10, 2025 |
| Osteoporosis, childhood- or juvenile-onset, with developmental delay | 1 | Oct 10, 2025 |
| Oto-palato-digital syndrome, type I | 2 | Apr 7, 2025 |
| Oto-palato-digital syndrome, type II | 3 | Jun 2, 2026 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 4 | Jun 2, 2026 |
| P4HA1-related disorder | 1 | Jun 2, 2026 |
| PALS1-related disorder | 1 | Jun 2, 2026 |
| PAUL-CHAO NEURODEVELOPMENTAL SYNDROME | 1 | Jun 2, 2026 |
| PAX2-Related Disorder | 3 | Jun 2, 2026 |
| PAX4-related disorder | 1 | Oct 10, 2025 |
| PAX6-related disorder | 5 | Jun 2, 2026 |
| PCDH15-related disorder | 1 | Jun 2, 2026 |
| PCWH syndrome | 2 | Apr 7, 2025 |
| PDZD7-related disorder | 1 | Jun 2, 2026 |
| PEHO syndrome | 1 | Jun 2, 2026 |
| PEHO-like syndrome | 1 | Sep 26, 2024 |
| PERCHING syndrome | 1 | Sep 4, 2022 |
| PEX1-related disorder | 4 | Jun 2, 2026 |
| PEX12-related disorder | 1 | Jun 2, 2026 |
| PEX13-related disorder | 2 | Oct 10, 2025 |
| PEX16-related disorder | 1 | Jun 2, 2026 |
| PEX6-related disorder | 2 | Jun 2, 2026 |
| PEX7-related disorder | 1 | Mar 17, 2026 |
| PGM1-congenital disorder of glycosylation | 4 | Jun 2, 2026 |
| PHARC syndrome | 1 | Oct 10, 2025 |
| PHF5A-related disorder | 3 | Jun 2, 2026 |
| PHGDH deficiency | 1 | Sep 26, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 21 | Jun 2, 2026 |
| PIEZO2-related disorder | 2 | Oct 10, 2025 |
| PIK3CA-related disorder | 10 | Jun 2, 2026 |
| PKD1-related disorder | 4 | Jun 2, 2026 |
| PLA2G6-related disorder | 7 | Jun 2, 2026 |
| PLEC-related disorder | 1 | Jun 2, 2026 |
| PLIN1-related familial partial lipodystrophy | 1 | Apr 7, 2025 |
| PLXNB3-related Congenital heart disease with neurodevelopmental disabilities | 2 | Oct 10, 2025 |
| PMM2-congenital disorder of glycosylation | 16 | Oct 10, 2025 |
| PMP22-related disorder | 3 | Jun 2, 2026 |
| PNPLA6-related disorder | 4 | Jun 2, 2026 |
| PODXL-related disorder | 1 | Jun 2, 2026 |
| POLG-related disorder | 6 | Jun 2, 2026 |
| POLR1A-related disorder | 1 | Oct 10, 2025 |
| POLR3A-related disorder | 4 | Jun 2, 2026 |
| POMGNT1-related disorder | 2 | Jun 2, 2026 |
| POMT2-related disorder | 3 | Jun 2, 2026 |
| PPARG-related disorder | 1 | Jun 2, 2026 |
| PPARG-related familial partial lipodystrophy | 1 | Jun 2, 2026 |
| PPFIA3-related disorder | 1 | Jun 2, 2026 |
| PPP1R3F-related disorder | 1 | Jun 2, 2026 |
| PPP1R3F-related neurodevelopmental disorder | 1 | Mar 17, 2026 |
| PPP2R5C-related disorder | 1 | Jun 2, 2026 |
| PRICKLE2-related disorder | 1 | Jun 2, 2026 |
| PRICKLE2-related neurodevelopmental disorder | 1 | Apr 7, 2025 |
| PRKAR1A-related disorder | 1 | Jun 2, 2026 |
| PRMT9-related disorder | 1 | Jun 2, 2026 |
| PRNP-related disorder | 3 | Jun 2, 2026 |
| PROM1-related disorder | 6 | Jun 2, 2026 |
| PROSER1-related Neurodevelopmental disorders | 1 | Oct 10, 2025 |
| PRPF8-related disorder | 5 | Jun 2, 2026 |
| PRPH2-related disorder | 10 | Jun 2, 2026 |
| PRRT2-Related Disorder | 4 | Jun 2, 2026 |
| PRSS1-related disorder | 1 | Jun 2, 2026 |
| PSAT deficiency | 1 | Jan 11, 2022 |
| PSEN1-related disorder | 1 | Oct 10, 2025 |
| PSMA7-related disorder | 1 | Jun 2, 2026 |
| PSMC5-related Neurodevelopmental proteasomopathy | 1 | Oct 10, 2025 |
| PTBP1-related disorder | 1 | Jun 2, 2026 |
| PTCH1-related disorder | 3 | Jun 2, 2026 |
| PTEN-related disorder | 14 | Jun 2, 2026 |
| PTPN11-related disorder | 2 | Jun 2, 2026 |
| PTPN4-related Neurodevelopmental Disorder | 1 | Apr 7, 2025 |
| PULMONARY ALVEOLAR MICROLITHIASIS | 1 | Oct 10, 2025 |
| PUM1-associated developmental disability-ataxia-seizure syndrome | 1 | Sep 26, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 17 | Jun 2, 2026 |
| PYCR1-related de Barsy syndrome | 2 | Jul 18, 2023 |
| PYCR1-related disorder | 2 | Jun 2, 2026 |
| Pachyonychia congenita 3 | 1 | May 28, 2022 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 2 | Sep 26, 2024 |
| Pallister-Hall syndrome | 3 | May 28, 2022 |
| Palmoplantar keratoderma i, striate, focal, or diffuse | 1 | Jan 11, 2022 |
| Palmoplantar keratoderma, Nagashima type | 4 | Mar 17, 2026 |
| Palmoplantar keratoderma, epidermolytic | 3 | Sep 4, 2022 |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 1 | Oct 10, 2025 |
| Palmoplantar keratoderma, punctate type 1A | 1 | Jan 11, 2022 |
| Pan-Chung-Bellen syndrome | 4 | Jun 2, 2026 |
| Pancreatic agenesis 3 | 1 | Oct 10, 2025 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Jun 2, 2026 |
| Pancytopenia due to IKZF1 mutations | 1 | Mar 9, 2023 |
| Pancytopenia-developmental delay syndrome | 1 | Jun 2, 2026 |
| Papillary renal cell carcinoma type 1 | 1 | Jun 2, 2026 |
| Papillon-Lefèvre syndrome | 2 | Jun 2, 2026 |
| Paramyotonia congenita of Von Eulenburg | 2 | Jun 2, 2026 |
| Parastremmatic dwarfism | 1 | Sep 4, 2022 |
| Parenti-mignot neurodevelopmental syndrome | 5 | Jun 2, 2026 |
| Parietal foramina 2 | 1 | Apr 7, 2025 |
| Parkinson disease 11, autosomal dominant, susceptibility to | 1 | Mar 17, 2026 |
| Parkinson disease 17 | 2 | Jun 2, 2026 |
| Parkinson disease, late-onset | 3 | Jun 2, 2026 |
| Parkinsonism-dystonia 3, childhood-onset | 1 | Sep 26, 2024 |
| Paroxysmal extreme pain disorder | 1 | Apr 7, 2025 |
| Paroxysmal nocturnal hemoglobinuria 1 | 1 | Mar 9, 2023 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 1 | Oct 10, 2025 |
| Partial androgen insensitivity syndrome | 3 | Aug 2, 2024 |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 | Oct 10, 2025 |
| Patterned macular dystrophy 2 | 1 | Oct 10, 2025 |
| Peeling skin syndrome 1 | 1 | Mar 9, 2023 |
| Peeling skin syndrome 4 | 1 | Jun 2, 2026 |
| Peeling skin syndrome 6 | 1 | Oct 10, 2025 |
| Pelizaeus-Merzbacher disease | 8 | Jun 2, 2026 |
| Pendred syndrome | 4 | Jun 2, 2026 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | Jul 18, 2023 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 2 | Oct 10, 2025 |
| Periventricular nodular heterotopia 6 | 3 | Jun 2, 2026 |
| Periventricular nodular heterotopia 7 | 4 | Jun 2, 2026 |
| Periventricular nodular heterotopia 8 | 3 | Jun 2, 2026 |
| Periventricular nodular heterotopia 9 | 5 | Oct 10, 2025 |
| Perlman syndrome | 3 | Jun 2, 2026 |
| Permanent neonatal diabetes mellitus 1 | 1 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 2 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 14B | 1 | Sep 26, 2024 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 4 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 1B | 2 | Apr 7, 2025 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 2 | Nov 5, 2021 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 1 | Oct 10, 2025 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 4 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 4B | 1 | Apr 7, 2025 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 2 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 7B | 2 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 8A (Zellweger) | 1 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 8B | 3 | Jun 2, 2026 |
| Peroxisome biogenesis disorder 9B | 1 | Jun 2, 2026 |
| Peroxisome biogenesis disorder type 3B | 2 | Oct 10, 2025 |
| Perrault syndrome 3 | 4 | Jun 2, 2026 |
| Perrault syndrome 4 | 3 | Apr 7, 2025 |
| Perrault syndrome 5 | 1 | Sep 26, 2024 |
| Perrault syndrome 7 | 1 | Jun 2, 2026 |
| Persistent Mullerian duct syndrome | 2 | Oct 10, 2025 |
| Peters plus syndrome | 2 | Oct 10, 2025 |
| Pettigrew syndrome | 3 | Jun 2, 2026 |
| Peutz-Jeghers syndrome | 4 | Oct 10, 2025 |
| Pfeiffer syndrome | 7 | Jun 2, 2026 |
| Phelan-McDermid syndrome | 14 | Jun 2, 2026 |
| Phenylketonuria | 51 | Jun 2, 2026 |
| Pheochromocytoma | 4 | Jun 2, 2026 |
| Pheochromocytoma/paraganglioma syndrome 1 | 2 | Jan 11, 2022 |
| Pheochromocytoma/paraganglioma syndrome 4 | 6 | Jun 2, 2026 |
| Phosphate transport defect | 1 | Mar 9, 2023 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 1 | Sep 4, 2022 |
| Piebaldism | 3 | Jun 2, 2026 |
| Pierpont syndrome | 5 | Oct 10, 2025 |
| Pierson syndrome | 10 | Jun 2, 2026 |
| Pigmentary pallidal degeneration | 8 | Jun 2, 2026 |
| Pigmentary retinal dystrophy | 11 | Oct 10, 2025 |
| Pilarowski-Bjornsson syndrome | 7 | Jun 2, 2026 |
| Pitt-Hopkins syndrome | 23 | Jun 2, 2026 |
| Pituitary hormone deficiency, combined or isolated, 8 | 1 | Jun 2, 2026 |
| Pituitary hormone deficiency, combined, 1 | 3 | Oct 10, 2025 |
| Pituitary hormone deficiency, combined, 2 | 5 | Jun 2, 2026 |
| Pityriasis rubra pilaris | 1 | Jul 18, 2023 |
| Plasminogen deficiency, type I | 1 | Jun 2, 2026 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 1 | Jun 2, 2026 |
| Platelet-type bleeding disorder 10 | 9 | Jun 2, 2026 |
| Platelet-type bleeding disorder 15 | 3 | Jun 2, 2026 |
| Platelet-type bleeding disorder 16 | 1 | Jun 2, 2026 |
| Platelet-type bleeding disorder 17 | 1 | Jun 2, 2026 |
| Platelet-type bleeding disorder 20 | 1 | Oct 10, 2025 |
| Platyspondylic dysplasia, Torrance type | 4 | Jul 18, 2023 |
| Poirier-Bienvenu neurodevelopmental syndrome | 14 | Jun 2, 2026 |
| Polycystic kidney disease 2 | 20 | Jun 2, 2026 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 6 | Jun 2, 2026 |
| Polycystic kidney disease 4 | 43 | Jun 2, 2026 |
| Polycystic kidney disease 5 | 2 | Jun 2, 2026 |
| Polycystic kidney disease 8 | 1 | Jun 2, 2026 |
| Polycystic kidney disease 9, susceptibility to | 3 | Jun 2, 2026 |
| Polycystic kidney disease, adult type | 120 | Jun 2, 2026 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | 1 | Jun 2, 2026 |
| Polycystic liver disease 2 | 4 | Jun 2, 2026 |
| Polycystic liver disease 3 with or without kidney cysts | 3 | Apr 7, 2025 |
| Polycystic liver disease 4 with or without kidney cysts | 2 | Jun 2, 2026 |
| Polydactyly, postaxial, type A1 | 3 | Oct 10, 2025 |
| Polydactyly, postaxial, type A8 | 1 | Jan 11, 2022 |
| Polydactyly, postaxial, type A9 | 1 | May 28, 2022 |
| Polydactyly, postaxial, type a10 | 1 | Jan 11, 2022 |
| Polydactyly, postaxial, type a7 | 2 | Oct 10, 2025 |
| Polyglandular autoimmune syndrome, type 1 | 5 | Jun 2, 2026 |
| Polyglucosan body myopathy type 1 | 2 | Oct 10, 2025 |
| Polyhydramnios, megalencephaly, and symptomatic epilepsy | 2 | Sep 26, 2024 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 1 | Sep 26, 2024 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 4 | Jun 2, 2026 |
| Polyposis syndrome, hereditary mixed, 2 | 1 | Jun 2, 2026 |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 1 | Jun 2, 2026 |
| Polysyndactyly 4 | 1 | Jun 2, 2026 |
| Pontocerebellar hypoplasia type 1B | 2 | Jun 2, 2026 |
| Pontocerebellar hypoplasia type 2A | 1 | Sep 26, 2024 |
| Pontocerebellar hypoplasia type 2B | 3 | Jun 2, 2026 |
| Pontocerebellar hypoplasia type 2D | 1 | Jun 2, 2026 |
| Pontocerebellar hypoplasia type 3 | 1 | Sep 26, 2024 |
| Pontocerebellar hypoplasia type 4 | 2 | Sep 26, 2024 |
| Pontocerebellar hypoplasia type 5 | 1 | Sep 26, 2024 |
| Pontocerebellar hypoplasia type 6 | 8 | Jun 2, 2026 |
| Pontocerebellar hypoplasia type 7 | 2 | May 28, 2022 |
| Pontocerebellar hypoplasia type 9 | 1 | Sep 4, 2022 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 6 | Jun 2, 2026 |
| Pontocerebellar hypoplasia, type 11 | 3 | Oct 10, 2025 |
| Pontocerebellar hypoplasia, type 12 | 1 | Apr 7, 2025 |
| Pontocerebellar hypoplasia, type 13 | 1 | Oct 10, 2025 |
| Pontocerebellar hypoplasia, type 16 | 2 | Jun 2, 2026 |
| Pontocerebellar hypoplasia, type 1D | 3 | Jun 2, 2026 |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 2 | Jun 2, 2026 |
| Posterior polymorphous corneal dystrophy 3 | 1 | Oct 10, 2025 |
| Precocious puberty, central, 2 | 1 | Jul 4, 2025 |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 1 | May 28, 2022 |
| Premature ovarian failure 23 | 1 | Jun 2, 2026 |
| Premature ovarian failure 2B | 1 | Oct 10, 2025 |
| Premature ovarian failure 6 | 2 | Oct 10, 2025 |
| Premature ovarian failure 8 | 2 | Jun 2, 2026 |
| Pretibial dystrophic epidermolysis bullosa | 8 | Oct 10, 2025 |
| Prieto syndrome | 1 | Jun 2, 2026 |
| Primary ciliary dyskinesia 11 | 1 | Oct 10, 2025 |
| Primary ciliary dyskinesia 12 | 1 | Jun 2, 2026 |
| Primary ciliary dyskinesia 13 | 4 | Jun 2, 2026 |
| Primary ciliary dyskinesia 14 | 5 | Jun 2, 2026 |
| Primary ciliary dyskinesia 15 | 4 | Oct 10, 2025 |
| Primary ciliary dyskinesia 16 | 1 | May 28, 2022 |
| Primary ciliary dyskinesia 17 | 1 | Oct 10, 2025 |
| Primary ciliary dyskinesia 18 | 1 | Jun 2, 2026 |
| Primary ciliary dyskinesia 19 | 2 | Jun 2, 2026 |
| Primary ciliary dyskinesia 2 | 2 | Jun 2, 2026 |
| Primary ciliary dyskinesia 20 | 2 | Jun 2, 2026 |
| Primary ciliary dyskinesia 22 | 3 | Jun 2, 2026 |
| Primary ciliary dyskinesia 23 | 5 | Jun 2, 2026 |
| Primary ciliary dyskinesia 24 | 1 | Oct 10, 2025 |
| Primary ciliary dyskinesia 28 | 3 | Jun 2, 2026 |
| Primary ciliary dyskinesia 29 | 5 | Jun 2, 2026 |
| Primary ciliary dyskinesia 3 | 21 | Jun 2, 2026 |
| Primary ciliary dyskinesia 30 | 1 | Mar 9, 2023 |
| Primary ciliary dyskinesia 32 | 3 | Jun 2, 2026 |
| Primary ciliary dyskinesia 35 | 1 | Oct 10, 2025 |
| Primary ciliary dyskinesia 5 | 5 | Jun 2, 2026 |
| Primary ciliary dyskinesia 7 | 12 | Jun 2, 2026 |
| Primary ciliary dyskinesia 9 | 2 | Jun 2, 2026 |
| Primary coenzyme Q10 deficiency 8 | 2 | Jun 2, 2026 |
| Primary erythromelalgia | 1 | Jun 2, 2026 |
| Primary familial polycythemia due to EPO receptor mutation | 1 | Mar 17, 2026 |
| Primary hyperoxaluria type 3 | 5 | Jun 2, 2026 |
| Primary hyperoxaluria, type I | 13 | Jun 2, 2026 |
| Primary hyperoxaluria, type II | 4 | Jun 2, 2026 |
| Primary hypomagnesemia | 2 | Jun 2, 2026 |
| Primary intraosseous venous malformation | 2 | Sep 4, 2022 |
| Primrose syndrome | 11 | Jun 2, 2026 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 3 | Sep 26, 2024 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 | Oct 10, 2025 |
| Progressive encephalopathy with leukodystrophy due to DECR deficiency | 1 | Jun 2, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Oct 10, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 | Sep 4, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 6 | Jun 2, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 1 | Mar 9, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Jun 2, 2026 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 2 | Apr 7, 2025 |
| Progressive familial intrahepatic cholestasis type 1 | 5 | Jun 2, 2026 |
| Progressive familial intrahepatic cholestasis type 2 | 31 | Jun 2, 2026 |
| Progressive familial intrahepatic cholestasis type 3 | 19 | Jun 2, 2026 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 4 | Jun 2, 2026 |
| Progressive myoclonic epilepsy type 3 | 6 | Jun 2, 2026 |
| Progressive myoclonic epilepsy type 7 | 3 | Mar 17, 2026 |
| Progressive myoclonic epilepsy type 8 | 1 | Apr 7, 2025 |
| Progressive myoclonic epilepsy type 9 | 1 | Apr 7, 2025 |
| Progressive myositis ossificans | 1 | Jun 2, 2026 |
| Progressive osseous heteroplasia | 1 | Jan 11, 2022 |
| Progressive pseudorheumatoid dysplasia | 4 | Oct 10, 2025 |
| Progressive scapulohumeroperoneal distal myopathy | 2 | Apr 7, 2025 |
| Progressive sclerosing poliodystrophy | 9 | Oct 10, 2025 |
| Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | 1 | Jun 2, 2026 |
| Prolidase deficiency | 2 | Jun 2, 2026 |
| Proline dehydrogenase deficiency | 2 | Jun 2, 2026 |
| Prolonged electroretinal response suppression 1 | 1 | Sep 26, 2024 |
| Prolonged electroretinal response suppression 2 | 1 | Apr 7, 2025 |
| Propionic acidemia | 37 | Jun 2, 2026 |
| Proteasome-associated autoinflammatory syndrome 2 | 1 | Jun 2, 2026 |
| Proteinuria, chronic benign | 7 | Apr 7, 2025 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 2 | Apr 7, 2025 |
| Proteus syndrome | 1 | Oct 10, 2025 |
| Protoporphyria, erythropoietic, 1 | 2 | Apr 7, 2025 |
| Proximal symphalangism 1A | 1 | Apr 7, 2025 |
| Pseudo-Hurler polydystrophy | 2 | Oct 10, 2025 |
| Pseudo-TORCH syndrome 1 | 1 | Mar 25, 2022 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 8 | Jun 2, 2026 |
| Pseudohyperaldosteronism type 2 | 1 | Jun 2, 2026 |
| Pseudohypoaldosteronism type 2D | 2 | Jun 2, 2026 |
| Pseudohypoaldosteronism type 2E | 2 | Oct 10, 2025 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 4 | Jun 2, 2026 |
| Pseudohypoaldosteronism, type IB2, autosomal recessive | 2 | Jun 2, 2026 |
| Pseudohypoparathyroidism type 1B | 1 | Mar 9, 2023 |
| Pseudohypoparathyroidism type 1C | 2 | Jul 18, 2023 |
| Pseudohypoparathyroidism type I A | 8 | Oct 10, 2025 |
| Pseudopseudohypoparathyroidism | 5 | Oct 10, 2025 |
| Pseudoxanthoma elasticum, forme fruste | 1 | Mar 9, 2023 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 4 | Jun 2, 2026 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 | Oct 10, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 4 | Jun 2, 2026 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2 | Oct 10, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Jun 2, 2026 |
| Pulmonary hypertension, primary, 1 | 3 | Jun 2, 2026 |
| Pulmonary venoocclusive disease 1 | 1 | Jul 18, 2023 |
| Pulp calcification | 1 | Apr 7, 2025 |
| Pyknodysostosis | 6 | Jun 2, 2026 |
| Pyogenic bacterial infections due to MyD88 deficiency | 1 | Jun 2, 2026 |
| Pyridoxal phosphate-responsive seizures | 3 | Jun 2, 2026 |
| Pyridoxine-dependent epilepsy | 11 | Jun 2, 2026 |
| Pyropoikilocytosis, hereditary | 2 | Oct 10, 2025 |
| Pyruvate carboxylase deficiency | 8 | Jun 2, 2026 |
| Pyruvate dehydrogenase E1-alpha deficiency | 25 | Jun 2, 2026 |
| Pyruvate dehydrogenase E1-beta deficiency | 3 | Jun 2, 2026 |
| Pyruvate dehydrogenase E3 deficiency | 1 | Oct 10, 2025 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 4 | Jun 2, 2026 |
| Pyruvate kinase deficiency of red cells | 23 | Jun 2, 2026 |
| Pyruvate kinase hyperactivity | 1 | Mar 9, 2023 |
| RAB11A-related disorder | 1 | Jun 2, 2026 |
| RAB3A-related disorder | 1 | Jun 2, 2026 |
| RAB3GAP1-related disorder | 3 | Jun 2, 2026 |
| RAB5C-related developmental disorder | 1 | Oct 10, 2025 |
| RAB5C-related disorder | 2 | Jun 2, 2026 |
| RAF1-related disorder | 3 | Jun 2, 2026 |
| RAG1-related disorder | 4 | Jun 2, 2026 |
| RALGAPB-related disorder | 1 | Jun 2, 2026 |
| RCBTB1-related retinopathy | 1 | May 28, 2022 |
| REST-related disorder | 1 | Jun 2, 2026 |
| RET-related disorder | 1 | Jun 2, 2026 |
| REV3L-related disorder | 1 | Jun 2, 2026 |
| RFT1-congenital disorder of glycosylation | 3 | Oct 10, 2025 |
| RFX3-related intellectual disability | 1 | Apr 7, 2025 |
| RFX4-related disorder | 2 | Jun 2, 2026 |
| RIN2 syndrome | 3 | Sep 26, 2024 |
| RLBP1-related disorder | 2 | Oct 10, 2025 |
| RNU4ATAC-related disorder | 2 | Jun 2, 2026 |
| ROBO1-related disorder | 1 | Mar 9, 2023 |
| RP2-related disorder | 1 | Jun 2, 2026 |
| RPA2-related disorder | 1 | Jun 2, 2026 |
| RPE65-related disorder | 2 | Jun 2, 2026 |
| RPGR-related disorder | 10 | Jun 2, 2026 |
| RPGRIP1-related disorder | 1 | Jun 2, 2026 |
| RRM1-related disorder | 1 | Jan 20, 2025 |
| RUNX2-related disorder | 1 | Oct 10, 2025 |
| RYR1-related disorder | 9 | Jun 2, 2026 |
| RYR2-related disorder | 1 | Oct 10, 2025 |
| Rabin-Pappas syndrome | 1 | Sep 26, 2024 |
| Rabson-Mendenhall syndrome | 2 | Apr 7, 2025 |
| Radial aplasia-thrombocytopenia syndrome | 4 | Jun 2, 2026 |
| Radio-Tartaglia syndrome | 5 | Jun 2, 2026 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2 | Jun 2, 2026 |
| Rafiq syndrome | 2 | Jun 2, 2026 |
| Rahman syndrome | 4 | Jun 2, 2026 |
| Rapadilino syndrome | 1 | Sep 26, 2024 |
| Rapp-Hodgkin syndrome | 1 | Sep 4, 2022 |
| Rauch-Steindl syndrome | 16 | Jun 2, 2026 |
| Recessive dystrophic epidermolysis bullosa | 29 | Jun 2, 2026 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 3 | Jun 2, 2026 |
| Renal carnitine transport defect | 11 | Jun 2, 2026 |
| Renal coloboma syndrome | 8 | Jun 2, 2026 |
| Renal cysts and diabetes syndrome | 14 | Jun 2, 2026 |
| Renal dysplasia, cystic, susceptibility to | 1 | Oct 10, 2025 |
| Renal hypodysplasia/aplasia 3 | 4 | Jun 2, 2026 |
| Renal hypodysplasia/aplasia 4 | 1 | Sep 4, 2022 |
| Renal hypomagnesemia 5 with ocular involvement | 5 | Oct 10, 2025 |
| Renal hypomagnesemia 6 | 1 | Jun 2, 2026 |
| Renal tubular acidosis with progressive nerve deafness | 8 | Jun 2, 2026 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 15 | Jun 2, 2026 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 5 | Oct 10, 2025 |
| Renal tubular dysgenesis | 1 | Nov 5, 2021 |
| Renal tubular dysgenesis of genetic origin | 3 | Jun 2, 2026 |
| Renal-hepatic-pancreatic dysplasia 1 | 2 | Oct 10, 2025 |
| Renpenning syndrome | 8 | Jun 2, 2026 |
| Reticular dysgenesis | 1 | Oct 10, 2025 |
| Retinal dystrophy with or without macular staphyloma | 4 | Oct 10, 2025 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | 1 | Oct 10, 2025 |
| Retinal macular dystrophy type 2 | 1 | Jun 2, 2026 |
| Retinitis pigmentosa 1 | 25 | Jun 2, 2026 |
| Retinitis pigmentosa 10 | 4 | Jun 2, 2026 |
| Retinitis pigmentosa 11 | 20 | Jun 2, 2026 |
| Retinitis pigmentosa 12 | 22 | Jun 2, 2026 |
| Retinitis pigmentosa 13 | 8 | Jun 2, 2026 |
| Retinitis pigmentosa 14 | 19 | Oct 10, 2025 |
| Retinitis pigmentosa 18 | 1 | Oct 10, 2025 |
| Retinitis pigmentosa 19 | 35 | Jun 2, 2026 |
| Retinitis pigmentosa 2 | 16 | Jun 2, 2026 |
| Retinitis pigmentosa 20 | 11 | Jun 2, 2026 |
| Retinitis pigmentosa 23 | 2 | Oct 10, 2025 |
| Retinitis pigmentosa 25 | 64 | Jun 2, 2026 |
| Retinitis pigmentosa 26 | 8 | Jun 2, 2026 |
| Retinitis pigmentosa 27 | 1 | Oct 10, 2025 |
| Retinitis pigmentosa 28 | 6 | Jun 2, 2026 |
| Retinitis pigmentosa 3 | 54 | Jun 2, 2026 |
| Retinitis pigmentosa 31 | 2 | Jun 2, 2026 |
| Retinitis pigmentosa 33 | 11 | Jun 2, 2026 |
| Retinitis pigmentosa 36 | 2 | Oct 10, 2025 |
| Retinitis pigmentosa 37 | 3 | Oct 10, 2025 |
| Retinitis pigmentosa 38 | 11 | Jun 2, 2026 |
| Retinitis pigmentosa 39 | 64 | Jun 2, 2026 |
| Retinitis pigmentosa 4 | 20 | Jun 2, 2026 |
| Retinitis pigmentosa 40 | 24 | Jun 2, 2026 |
| Retinitis pigmentosa 41 | 10 | Jun 2, 2026 |
| Retinitis pigmentosa 42 | 1 | Jun 2, 2026 |
| Retinitis pigmentosa 43 | 13 | Jun 2, 2026 |
| Retinitis pigmentosa 44 | 2 | Jun 2, 2026 |
| Retinitis pigmentosa 45 | 13 | Jun 2, 2026 |
| Retinitis pigmentosa 47 | 1 | Jan 11, 2022 |
| Retinitis pigmentosa 48 | 1 | Jun 2, 2026 |
| Retinitis pigmentosa 49 | 6 | Jun 2, 2026 |
| Retinitis pigmentosa 50 | 2 | Apr 7, 2025 |
| Retinitis pigmentosa 54 | 14 | Jun 2, 2026 |
| Retinitis pigmentosa 55 | 3 | Jul 4, 2025 |
| Retinitis pigmentosa 56 | 7 | Jun 2, 2026 |
| Retinitis pigmentosa 59 | 1 | Jun 2, 2026 |
| Retinitis pigmentosa 60 | 1 | Jun 2, 2026 |
| Retinitis pigmentosa 61 | 1 | Apr 7, 2025 |
| Retinitis pigmentosa 62 | 3 | Jun 2, 2026 |
| Retinitis pigmentosa 66 | 2 | Jan 11, 2022 |
| Retinitis pigmentosa 69 | 4 | Jun 2, 2026 |
| Retinitis pigmentosa 7 | 6 | Oct 10, 2025 |
| Retinitis pigmentosa 70 | 1 | Apr 7, 2025 |
| Retinitis pigmentosa 71 | 2 | Apr 7, 2025 |
| Retinitis pigmentosa 72 | 1 | Apr 7, 2025 |
| Retinitis pigmentosa 73 | 4 | Apr 7, 2025 |
| Retinitis pigmentosa 74 | 3 | Oct 10, 2025 |
| Retinitis pigmentosa 76 | 2 | Jun 2, 2026 |
| Retinitis pigmentosa 77 | 7 | Jun 2, 2026 |
| Retinitis pigmentosa 79 | 4 | Jun 2, 2026 |
| Retinitis pigmentosa 80 | 7 | Jun 2, 2026 |
| Retinitis pigmentosa 83 | 1 | Jun 2, 2026 |
| Retinitis pigmentosa 86 | 2 | Apr 7, 2025 |
| Retinitis pigmentosa 88 | 6 | Jun 2, 2026 |
| Retinitis pigmentosa 90 | 3 | Jun 2, 2026 |
| Retinitis pigmentosa 92 | 2 | Jun 2, 2026 |
| Retinitis pigmentosa 93 | 4 | Oct 10, 2025 |
| Retinitis pigmentosa 95 | 2 | Apr 7, 2025 |
| Retinitis pigmentosa 96 | 1 | Oct 10, 2025 |
| Retinitis pigmentosa 97 | 3 | Jun 2, 2026 |
| Retinitis pigmentosa and erythrocytic microcytosis | 1 | Jun 2, 2026 |
| Retinitis pigmentosa with or without situs inversus | 1 | Oct 10, 2025 |
| Retinoblastoma | 3 | Jun 2, 2026 |
| Rett syndrome | 47 | Jun 2, 2026 |
| Rhabdomyolysis, susceptibility to, 1 | 1 | Apr 7, 2025 |
| Rhabdomyolysis, susceptibility to, 2 | 1 | Jun 2, 2026 |
| Rhizomelic chondrodysplasia punctata type 1 | 2 | Jun 2, 2026 |
| Rhizomelic chondrodysplasia punctata type 3 | 2 | Oct 10, 2025 |
| Rhizomelic dysplasia, Ain-Naz type | 1 | Jun 2, 2026 |
| Rhizomelic limb shortening with dysmorphic features | 1 | Apr 7, 2025 |
| Rienhoff syndrome | 6 | Jun 2, 2026 |
| Right atrial isomerism | 1 | Apr 7, 2025 |
| Ritscher-Schinzel syndrome 1 | 5 | Oct 10, 2025 |
| Ritscher-Schinzel syndrome 2 | 1 | Jun 2, 2026 |
| Ritscher-Schinzel syndrome 4 | 1 | Oct 10, 2025 |
| Roberts-SC phocomelia syndrome | 3 | Oct 10, 2025 |
| Roifman syndrome | 5 | Oct 10, 2025 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Apr 7, 2025 |
| Rothmund-Thomson syndrome type 2 | 2 | Sep 26, 2024 |
| Rothmund-Thomson syndrome type 4 | 2 | Jun 2, 2026 |
| Rotor syndrome | 4 | Jun 2, 2026 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 35 | Jun 2, 2026 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 33 | Jun 2, 2026 |
| SALL4-Related Disorders | 1 | Oct 10, 2025 |
| SARM1-related disorder | 1 | Jun 2, 2026 |
| SATB1-related disorder | 1 | Jun 2, 2026 |
| SCAMP5-related disorder | 1 | Jun 2, 2026 |
| SCLT1-related disorder | 3 | Jun 2, 2026 |
| SCN11A-related disorder | 1 | Oct 10, 2025 |
| SCN1A-related disorder | 65 | Jun 2, 2026 |
| SCN1A-related epilepsy syndrome, recessive | 1 | Apr 7, 2025 |
| SCN2A-related disorder | 15 | Jun 2, 2026 |
| SCN3A-related disorder | 3 | Jun 2, 2026 |
| SCN4A-related disorder | 7 | Jun 2, 2026 |
| SCN5A-related disorder | 7 | Jun 2, 2026 |
| SCN8A-related disorder | 9 | Jun 2, 2026 |
| SCN9A-related disorder | 1 | Jun 2, 2026 |
| SDCCAG8-related disorder | 1 | Jun 2, 2026 |
| SDHD-related disorder | 1 | Jun 2, 2026 |
| SEC61A1-related disorder | 1 | Jun 2, 2026 |
| SEPHS1-related developmental delay | 1 | Jul 4, 2025 |
| SETD2-related disorder | 1 | Oct 10, 2025 |
| SHANK1-related disorder | 1 | Jun 2, 2026 |
| SHORT syndrome | 6 | Jun 2, 2026 |
| SIM1-related disorder | 2 | Jun 2, 2026 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 9 | Jun 2, 2026 |
| SIN3B-related disorder | 2 | Jun 2, 2026 |
| SIN3B-related neurodevelopmental disorder | 1 | Apr 7, 2025 |
| SIRT6-related disorder | 1 | Jun 2, 2026 |
| SLC12A2-related disorder | 2 | Oct 10, 2025 |
| SLC12A3-related disorder | 1 | Jun 2, 2026 |
| SLC26A2-related disorder | 4 | Jun 2, 2026 |
| SLC2A1-related disorder | 10 | Jun 2, 2026 |
| SLC34A1-related disorder | 1 | Jun 2, 2026 |
| SLC35A2-congenital disorder of glycosylation | 5 | Jun 2, 2026 |
| SLC4A11-related disorder | 1 | Oct 10, 2025 |
| SLC52A3-related disorder | 3 | Oct 10, 2025 |
| SMARCA2-related disorder | 4 | Jun 2, 2026 |
| SMARCA5-related disorder | 2 | Jun 2, 2026 |
| SMARCAD1-related disorder | 1 | Jun 2, 2026 |
| SMARCB1-related disorder | 1 | Jun 2, 2026 |
| SMARCB1-related schwannomatosis | 1 | Jun 2, 2026 |
| SMC1A-related disorder | 3 | Jun 2, 2026 |
| SMPD1-related disorder | 4 | Jun 2, 2026 |
| SNAP25 related neurodevelopmental disorder | 1 | Jan 11, 2022 |
| SNAP25-related developmental delays and epileptic encephalopathies | 2 | Oct 10, 2025 |
| SNAP25-related disorder | 1 | Mar 25, 2022 |
| SNCA-related disorder | 1 | Oct 10, 2025 |
| SNRNP200-related retinal disorder | 2 | Oct 10, 2025 |
| SOX10-related disorder | 3 | Jun 2, 2026 |
| SOX2-related disorder | 1 | Jun 2, 2026 |
| SOX9-related disorder | 1 | Oct 10, 2025 |
| SPG11-related disorder | 4 | Oct 10, 2025 |
| SPOP-related disorder | 1 | Oct 10, 2025 |
| SPTA1-related disorder | 4 | Jun 2, 2026 |
| SPTAN1-related disorder | 14 | Jun 2, 2026 |
| SPTB-related disorder | 2 | Jun 2, 2026 |
| SPTBN5-related disorder | 1 | Jun 2, 2026 |
| SPTLC1-related disorder | 1 | Oct 10, 2025 |
| SRCAP-related disorder | 1 | Jun 2, 2026 |
| SRD5A3-congenital disorder of glycosylation | 1 | Jun 2, 2026 |
| SREBF1-related disorder | 1 | Jun 2, 2026 |
| SSBP1-related disorder | 1 | Oct 10, 2025 |
| SSR4-congenital disorder of glycosylation | 1 | Oct 10, 2025 |
| STAD syndrome | 1 | Jun 2, 2026 |
| STAP1-related disorder | 1 | Jun 2, 2026 |
| STARD9-related disorder | 1 | Oct 10, 2025 |
| STARD9-related intellectual disabilities with blindness | 1 | Jul 4, 2025 |
| STAT1-related disorder | 1 | Jun 2, 2026 |
| STAT3-related disorder | 1 | Jun 2, 2026 |
| STAT3-related early-onset multisystem autoimmune disease | 2 | Jun 2, 2026 |
| STING-associated vasculopathy with onset in infancy | 1 | Apr 7, 2025 |
| STT3A-congenital disorder of glycosylation | 1 | Jun 2, 2026 |
| SUCO-related disorder | 1 | Jun 2, 2026 |
| SUFU-related ocular motor apraxia | 1 | Apr 7, 2025 |
| SULT4A1-related disorder | 1 | Jun 2, 2026 |
| SYNCRIP-related disorder | 1 | Jun 2, 2026 |
| SYNCRIP-related neurodevelopmental disorder | 1 | May 11, 2023 |
| Saethre-Chotzen syndrome | 7 | Oct 10, 2025 |
| Salla disease | 1 | Apr 7, 2025 |
| Sandestig-stefanova syndrome | 1 | Sep 26, 2024 |
| Sandhoff disease | 21 | Jun 2, 2026 |
| Sarcosine dehydrogenase deficiency | 1 | Oct 10, 2025 |
| Scalp-ear-nipple syndrome | 1 | Jun 2, 2026 |
| Schaaf-Yang syndrome | 11 | Jun 2, 2026 |
| Schimke immuno-osseous dysplasia | 2 | Oct 10, 2025 |
| Schinzel-Giedion syndrome | 4 | Jun 2, 2026 |
| Schnyder crystalline corneal dystrophy | 1 | Jun 2, 2026 |
| Schuurs-Hoeijmakers syndrome | 2 | Jun 2, 2026 |
| Schwartz-Jampel syndrome type 1 | 6 | Jun 2, 2026 |
| Sclerosteosis 1 | 1 | Sep 4, 2022 |
| Seckel syndrome 1 | 1 | Jun 2, 2026 |
| Seckel syndrome 11 | 2 | Oct 10, 2025 |
| Seckel syndrome 2 | 2 | Sep 26, 2024 |
| Seckel syndrome 4 | 2 | Oct 10, 2025 |
| Seckel syndrome 5 | 1 | Sep 26, 2024 |
| Seckel syndrome 8 | 1 | Jan 11, 2022 |
| Seckel syndrome 9 | 1 | Oct 10, 2025 |
| Seizures, benign familial infantile, 3 | 1 | Apr 7, 2025 |
| Seizures, benign familial infantile, 5 | 1 | Oct 10, 2025 |
| Seizures, benign familial neonatal, 1 | 3 | Oct 10, 2025 |
| Seizures, benign familial neonatal, 2 | 4 | Jun 2, 2026 |
| Senior-Loken syndrome 1 | 1 | Apr 7, 2025 |
| Senior-Loken syndrome 4 | 2 | Jun 2, 2026 |
| Senior-Loken syndrome 5 | 5 | Jun 2, 2026 |
| Senior-Loken syndrome 8 | 3 | Apr 7, 2025 |
| Senior-Loken syndrome 9 | 1 | Sep 26, 2024 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 3 | Jun 2, 2026 |
| Septo-optic dysplasia sequence | 1 | Mar 9, 2023 |
| Severe X-linked mitochondrial encephalomyopathy | 2 | Jun 2, 2026 |
| Severe X-linked myotubular myopathy | 11 | Jun 2, 2026 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Sep 26, 2024 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 4 | Oct 10, 2025 |
| Severe combined immunodeficiency due to CORO1A deficiency | 1 | Oct 10, 2025 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 2 | Jun 2, 2026 |
| Severe combined immunodeficiency due to IKK2 deficiency | 1 | Apr 7, 2025 |
| Severe combined immunodeficiency due to LCK deficiency | 1 | Mar 9, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 6 | Jun 2, 2026 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 3 | Jun 2, 2026 |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | 1 | Jun 2, 2026 |
| Severe early-childhood-onset retinal dystrophy | 50 | Jun 2, 2026 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 25 | Jun 2, 2026 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2 | Oct 10, 2025 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 9 | Jun 2, 2026 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 24 | Jun 2, 2026 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Jun 2, 2026 |
| Severe myoclonic epilepsy in infancy | 52 | Jun 2, 2026 |
| Severe neonatal-onset encephalopathy with microcephaly | 1 | Oct 10, 2025 |
| Severe neurodegenerative syndrome with lipodystrophy | 4 | Jun 2, 2026 |
| Shashi-Pena syndrome | 3 | Oct 10, 2025 |
| Short QT syndrome type 1 | 1 | May 28, 2022 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 11 | Jun 2, 2026 |
| Short stature with nonspecific skeletal abnormalities | 2 | Mar 9, 2023 |
| Short stature with nonspecific skeletal abnormalities 1 | 1 | Jun 2, 2026 |
| Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 1 | Oct 10, 2025 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 6 | Jun 2, 2026 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 3 | Oct 10, 2025 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 4 | Jun 2, 2026 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 9 | Jun 2, 2026 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 4 | Jun 2, 2026 |
| Short stature-optic atrophy-Pelger-Huët anomaly syndrome | 3 | Jun 2, 2026 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 2 | Sep 4, 2022 |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 2 | Jun 2, 2026 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 1 | Apr 7, 2025 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 2 | Mar 9, 2023 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 2 | Oct 10, 2025 |
| Shprintzen-Goldberg syndrome | 3 | Jun 2, 2026 |
| Shukla-Vernon syndrome | 1 | Jul 18, 2023 |
| Shwachman-Diamond syndrome 1 | 3 | Jun 2, 2026 |
| Shwachman-Diamond syndrome 2 | 3 | Mar 17, 2026 |
| Sialidosis type 2 | 3 | Jun 2, 2026 |
| Sialuria | 1 | Jun 2, 2026 |
| Sick sinus syndrome 1 | 2 | Jun 2, 2026 |
| Sick sinus syndrome 2, autosomal dominant | 1 | Oct 10, 2025 |
| Sideroblastic anemia 2 | 2 | Jun 2, 2026 |
| Sifrim-Hitz-Weiss syndrome | 12 | Jun 2, 2026 |
| Silver-Russell syndrome 3 | 1 | Jun 2, 2026 |
| Silver-Russell syndrome 5 | 2 | Mar 9, 2023 |
| Silver-russell syndrome 4 | 3 | Oct 10, 2025 |
| Simpson-Golabi-Behmel syndrome type 1 | 3 | Oct 10, 2025 |
| Singleton-Merten syndrome 1 | 1 | Jul 18, 2023 |
| Sinoatrial node dysfunction and deafness | 1 | Sep 26, 2024 |
| Sitosterolemia 1 | 3 | Jun 2, 2026 |
| Sitosterolemia 2 | 2 | Jun 2, 2026 |
| Sjögren-Larsson syndrome | 3 | Jun 2, 2026 |
| Skin creases, congenital symmetric circumferential, 2 | 5 | Mar 17, 2026 |
| Skraban-Deardorff syndrome | 5 | Jun 2, 2026 |
| Smith-Lemli-Opitz syndrome | 10 | Jun 2, 2026 |
| Smith-Magenis syndrome | 9 | Jun 2, 2026 |
| Snijders Blok-Campeau syndrome | 33 | Jun 2, 2026 |
| Snijders blok-fisher syndrome | 7 | Mar 17, 2026 |
| Snowflake vitreoretinal degeneration | 2 | Oct 10, 2025 |
| Somatotroph adenoma | 1 | Oct 10, 2025 |
| Sorsby fundus dystrophy | 1 | May 28, 2022 |
| Sotos syndrome | 52 | Jun 2, 2026 |
| Southeast Asian ovalocytosis | 1 | Jun 2, 2026 |
| Spastic ataxia 10, autosomal recessive | 5 | Jun 2, 2026 |
| Spastic ataxia 2 | 2 | Oct 10, 2025 |
| Spastic ataxia 5 | 1 | Oct 10, 2025 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 1 | Apr 7, 2025 |
| Spastic paraparesis-cataracts-speech delay syndrome | 3 | Jun 2, 2026 |
| Spastic paraplegia 18a, autosomal dominant | 1 | Oct 10, 2025 |
| Spastic paraplegia 30A, autosomal dominant | 2 | Jun 2, 2026 |
| Spastic paraplegia 79A, autosomal dominant, with ataxia | 3 | Jun 2, 2026 |
| Spastic paraplegia 81, autosomal recessive | 1 | Jun 2, 2026 |
| Spastic paraplegia 82, autosomal recessive | 2 | Jun 2, 2026 |
| Spastic paraplegia 83, autosomal recessive | 1 | Oct 10, 2025 |
| Spastic paraplegia 84, autosomal recessive | 3 | Jun 2, 2026 |
| Spastic paraplegia 85, autosomal recessive | 3 | Mar 25, 2022 |
| Spastic paraplegia 86, autosomal recessive | 4 | Jun 2, 2026 |
| Spastic paraplegia 88, autosomal dominant | 2 | Jun 2, 2026 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 5 | Sep 26, 2024 |
| Spastic paraplegia 92, autosomal recessive | 1 | Jun 2, 2026 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 4 | Jun 2, 2026 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 4 | Jun 2, 2026 |
| Spastic tetraplegia and axial hypotonia, progressive | 1 | Jun 2, 2026 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 4 | Jun 2, 2026 |
| Spasticity-ataxia-gait anomalies syndrome | 1 | Jun 2, 2026 |
| Spermatogenic failure 11 | 1 | Jun 2, 2026 |
| Spermatogenic failure 17 | 1 | Jun 2, 2026 |
| Spermatogenic failure 31 | 1 | Jun 2, 2026 |
| Spermatogenic failure 38 | 1 | Apr 7, 2025 |
| Spermatogenic failure 45 | 1 | Jan 11, 2022 |
| Spermatogenic failure 57 | 1 | Oct 10, 2025 |
| Spermatogenic failure 65 | 1 | Oct 10, 2025 |
| Spermatogenic failure 78 | 1 | Jun 2, 2026 |
| Spermatogenic failure, X-linked, 3 | 1 | Jun 2, 2026 |
| Spermatogenic failure, Y-linked, 2 | 1 | Jun 2, 2026 |
| Sphingolipid activator protein 1 deficiency | 4 | Jun 2, 2026 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Apr 7, 2025 |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 | Oct 10, 2025 |
| Spinal muscular atrophy, infantile, James type | 1 | Oct 10, 2025 |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 | Jun 2, 2026 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 | Oct 10, 2025 |
| Spinocerebellar ataxia 27A | 2 | Mar 17, 2026 |
| Spinocerebellar ataxia 27B, late-onset | 1 | Oct 10, 2025 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 4 | Jun 2, 2026 |
| Spinocerebellar ataxia 46 | 1 | Sep 4, 2022 |
| Spinocerebellar ataxia 47 | 4 | Jun 2, 2026 |
| Spinocerebellar ataxia 48 | 4 | Jun 2, 2026 |
| Spinocerebellar ataxia 49 | 2 | Oct 10, 2025 |
| Spinocerebellar ataxia 50 | 2 | Apr 7, 2025 |
| Spinocerebellar ataxia 51 | 1 | Oct 10, 2025 |
| Spinocerebellar ataxia type 13 | 3 | Jun 2, 2026 |
| Spinocerebellar ataxia type 14 | 3 | Apr 7, 2025 |
| Spinocerebellar ataxia type 15/16 | 4 | Jun 2, 2026 |
| Spinocerebellar ataxia type 19/22 | 3 | Jun 2, 2026 |
| Spinocerebellar ataxia type 2 | 3 | Apr 7, 2025 |
| Spinocerebellar ataxia type 21 | 1 | Oct 10, 2025 |
| Spinocerebellar ataxia type 25 | 1 | Apr 7, 2025 |
| Spinocerebellar ataxia type 28 | 4 | Jun 2, 2026 |
| Spinocerebellar ataxia type 29 | 5 | Apr 7, 2025 |
| Spinocerebellar ataxia type 34 | 2 | Jun 2, 2026 |
| Spinocerebellar ataxia type 35 | 2 | Jun 2, 2026 |
| Spinocerebellar ataxia type 38 | 2 | Oct 10, 2025 |
| Spinocerebellar ataxia type 42 | 3 | Jun 2, 2026 |
| Spinocerebellar ataxia type 5 | 6 | Jun 2, 2026 |
| Spinocerebellar ataxia type 6 | 1 | Jun 2, 2026 |
| Spinocerebellar ataxia, autosomal recessive 23 | 1 | Jun 2, 2026 |
| Spinocerebellar ataxia, autosomal recessive 26 | 1 | Apr 7, 2025 |
| Spinocerebellar ataxia, autosomal recessive 31 | 2 | Jun 2, 2026 |
| Spinocerebellar ataxia, autosomal recessive 32 | 3 | Oct 10, 2025 |
| Spinocerebellar ataxia, autosomal recessive 33 | 2 | Jun 2, 2026 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | 1 | Jun 2, 2026 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 11 | Jun 2, 2026 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 2 | Mar 17, 2026 |
| Split hand-foot malformation 4 | 1 | May 28, 2022 |
| Split hand-foot malformation 6 | 3 | Oct 10, 2025 |
| Sponastrime dysplasia | 3 | Jun 2, 2026 |
| Spondylocarpotarsal synostosis syndrome | 5 | Jun 2, 2026 |
| Spondylocostal dysostosis 1, autosomal recessive | 3 | Oct 10, 2025 |
| Spondylocostal dysostosis 4, autosomal recessive | 1 | Sep 4, 2022 |
| Spondylocostal dysostosis 5 | 2 | Sep 4, 2022 |
| Spondyloenchondrodysplasia with immune dysregulation | 4 | Jun 2, 2026 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 | Apr 7, 2025 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 | Mar 9, 2023 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 3 | Jun 2, 2026 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 3 | Oct 10, 2025 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 2 | Jun 2, 2026 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 2 | Oct 10, 2025 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 | Apr 7, 2025 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 1 | Oct 10, 2025 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 6 | Jun 2, 2026 |
| Spondyloepiphyseal dysplasia congenita | 2 | Oct 10, 2025 |
| Spondyloepiphyseal dysplasia tarda, X-linked | 2 | Jun 2, 2026 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 4 | Jun 2, 2026 |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 1 | Apr 7, 2025 |
| Spondyloepiphyseal dysplasia, Stanescu type | 3 | May 26, 2025 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 | Jun 2, 2026 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 2 | Jun 2, 2026 |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 | Sep 4, 2022 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 1 | Mar 9, 2023 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 2 | Apr 7, 2025 |
| Spondyloperipheral dysplasia | 8 | Oct 10, 2025 |
| Spongiform encephalopathy with neuropsychiatric features | 2 | Oct 10, 2025 |
| Spongy degeneration of central nervous system | 11 | Jun 2, 2026 |
| Stankiewicz-Isidor syndrome | 2 | Jun 2, 2026 |
| Stargardt disease 3 | 1 | Apr 7, 2025 |
| Stickler syndrome type 1 | 15 | Jun 2, 2026 |
| Stickler syndrome type 2 | 6 | Jun 2, 2026 |
| Stickler syndrome, type 4 | 1 | Jun 2, 2026 |
| Stickler syndrome, type I, nonsyndromic ocular | 7 | Jun 2, 2026 |
| Stiff skin syndrome | 1 | Sep 26, 2024 |
| Stromme syndrome | 1 | Sep 26, 2024 |
| Structural heart defects and renal anomalies syndrome | 2 | Apr 7, 2025 |
| Stüve-Wiedemann syndrome 1 | 5 | Jun 2, 2026 |
| Succinate-semialdehyde dehydrogenase deficiency | 13 | Jun 2, 2026 |
| Succinyl-CoA acetoacetate transferase deficiency | 5 | Jun 2, 2026 |
| Sucrase-isomaltase deficiency | 1 | Apr 7, 2025 |
| Suleiman-El-Hattab syndrome | 2 | Oct 10, 2025 |
| Sulfite oxidase deficiency | 5 | Jun 2, 2026 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 8 | Jun 2, 2026 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 | 1 | Jun 2, 2026 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2 | Sep 26, 2024 |
| Supravalvar aortic stenosis | 5 | Jun 2, 2026 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Jun 2, 2026 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 4 | Jun 2, 2026 |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 1 | Jun 2, 2026 |
| Sweeney-Cox syndrome | 2 | Jun 2, 2026 |
| Symmetrical dyschromatosis of extremities | 1 | Mar 9, 2023 |
| Syndactyly type 5 | 1 | Oct 10, 2025 |
| Syndromic X-linked intellectual disability 14 | 1 | Oct 10, 2025 |
| Syndromic X-linked intellectual disability 34 | 2 | Oct 10, 2025 |
| Syndromic X-linked intellectual disability 94 | 8 | Jun 2, 2026 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 20 | Jun 2, 2026 |
| Syndromic X-linked intellectual disability Hedera type | 1 | Apr 7, 2025 |
| Syndromic X-linked intellectual disability Najm type | 20 | Jun 2, 2026 |
| Syndromic X-linked intellectual disability Nascimento type | 2 | Apr 7, 2025 |
| Syndromic X-linked intellectual disability Raymond type | 3 | Oct 10, 2025 |
| Syndromic X-linked intellectual disability Siderius type | 3 | Jun 2, 2026 |
| Syndromic X-linked intellectual disability Snyder type | 6 | Jun 2, 2026 |
| Syndromic microphthalmia type 5 | 5 | Jun 2, 2026 |
| Synpolydactyly type 2 | 1 | Oct 10, 2025 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 2 | Sep 26, 2024 |
| TAB2-related disorder | 1 | Oct 10, 2025 |
| TAOK2-related disorder | 1 | Jun 2, 2026 |
| TARP syndrome | 2 | Jun 2, 2026 |
| TBC1D24-related disorder | 1 | Jun 2, 2026 |
| TBL1XR1-related disorder | 3 | Jun 2, 2026 |
| TBX20-related disorder | 1 | Jun 2, 2026 |
| TCF12-related craniosynostosis | 10 | Jun 2, 2026 |
| TCF12-related disorder | 1 | Oct 10, 2025 |
| TDRD12-related disorder | 1 | Jun 2, 2026 |
| TEK-related disorder | 1 | Oct 10, 2025 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 5 | Jun 2, 2026 |
| TERT-related disorder | 2 | Jun 2, 2026 |
| TFG-related Spastic paraplegia | 1 | Mar 17, 2026 |
| TGFBI-related disorder | 3 | Jun 2, 2026 |
| TGM6-related disorder | 1 | Jun 2, 2026 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Jun 2, 2026 |
| TLK1-related disorder | 1 | Jun 2, 2026 |
| TLK1-related neurodevelopmental disorder | 2 | Mar 17, 2026 |
| TMEM151A-related disorder | 1 | Mar 9, 2023 |
| TMEM199-CDG | 1 | Oct 10, 2025 |
| TMEM260-related disorder | 1 | Jun 2, 2026 |
| TMEM67-related disorder | 4 | Jun 2, 2026 |
| TMPRSS9-related neurodevelopmental disorder | 1 | Oct 10, 2025 |
| TNFRSF21-related disorder | 1 | Jun 2, 2026 |
| TNNC1-related disorder | 1 | Jun 2, 2026 |
| TNNI1-related disorder | 2 | Jun 2, 2026 |
| TNNT1-related disorder | 1 | Oct 10, 2025 |
| TNNT2-related disorder | 1 | Jun 2, 2026 |
| TOMM70-related neurodevelopmental disorder | 1 | Jan 11, 2022 |
| TOP2B-related disorder | 1 | Jun 2, 2026 |
| TOP3A-related disorder | 1 | Oct 10, 2025 |
| TP53-related disorder | 4 | Jun 2, 2026 |
| TP63-related disorder | 4 | Jun 2, 2026 |
| TPM2-related disorder | 1 | Jun 2, 2026 |
| TPP1-related disorder | 3 | Jun 2, 2026 |
| TRA2B-related disorder | 1 | Oct 10, 2025 |
| TREX1-related disorder | 1 | Jun 2, 2026 |
| TRIO-related disorder | 4 | Jun 2, 2026 |
| TRIP11-related disorder | 1 | Jun 2, 2026 |
| TRPM3 related neruodevelopmental disorder | 1 | Jan 11, 2022 |
| TRPM4-related disorder | 1 | Oct 10, 2025 |
| TRPS1-related disorder | 2 | Oct 10, 2025 |
| TRPV4-related disorder | 7 | Jun 2, 2026 |
| TSEN54-related disorder | 2 | Jun 2, 2026 |
| TTN-related disorder | 10 | Jun 2, 2026 |
| TUBA4A-related disorder | 1 | Jun 2, 2026 |
| TUBB2B-related disorder | 1 | Jun 2, 2026 |
| TUBB3-related disorder | 1 | Jun 2, 2026 |
| TWIST1-related craniosynostosis | 2 | Sep 4, 2022 |
| TWIST1-related disorder | 2 | Jun 2, 2026 |
| TYR-related disorder | 5 | Jun 2, 2026 |
| Tatton-Brown-Rahman overgrowth syndrome | 9 | Jun 2, 2026 |
| Tay-Sachs disease | 14 | Jun 2, 2026 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 7 | Jun 2, 2026 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 8 | Jun 2, 2026 |
| Temple-Baraitser syndrome | 2 | Jun 2, 2026 |
| Temtamy preaxial brachydactyly syndrome | 1 | Oct 10, 2025 |
| Temtamy syndrome | 3 | Jun 2, 2026 |
| Terminal osseous dysplasia-pigmentary defects syndrome | 1 | Apr 7, 2025 |
| Tessadori-Van Haaften neurodevelopmental syndrome 3 | 2 | Oct 10, 2025 |
| Tessadori-Van Haaften neurodevelopmental syndrome 4 | 1 | Jun 2, 2026 |
| Tessadori-van Haaften neurodevelopmental syndrome 1 | 1 | Jun 2, 2026 |
| Tessadori-van Haaften neurodevelopmental syndrome 2 | 1 | Oct 10, 2025 |
| Testicular anomalies with or without congenital heart disease | 2 | Jun 2, 2026 |
| Testosterone 17-beta-dehydrogenase deficiency | 5 | Jun 2, 2026 |
| Tetralogy of Fallot | 3 | Sep 26, 2024 |
| Thanatophoric dysplasia type 1 | 2 | Oct 10, 2025 |
| Thrombocytopenia 1 | 2 | Sep 26, 2024 |
| Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | 1 | Oct 10, 2025 |
| Thrombocytopenia 12 with or without myopathy | 5 | Jun 2, 2026 |
| Thrombocytopenia 13, syndromic | 1 | Oct 10, 2025 |
| Thrombocytopenia 5 | 2 | Jun 2, 2026 |
| Thrombocytopenia 7 | 1 | Mar 9, 2023 |
| Thrombocytopenia 9 | 1 | Oct 10, 2025 |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | 1 | Jun 2, 2026 |
| Thrombocytopenia, anemia, and myelofibrosis | 3 | Sep 4, 2022 |
| Thrombophilia due to activated protein C resistance | 1 | Oct 10, 2025 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 2 | Apr 7, 2025 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 3 | Jun 2, 2026 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 2 | Oct 10, 2025 |
| Thrombophilia due to thrombin defect | 1 | Jun 2, 2026 |
| Thrombophilia, X-linked, due to factor 9 defect | 1 | Jun 2, 2026 |
| Thyroglobulin synthesis defect | 4 | Mar 17, 2026 |
| Thyroid cancer, nonmedullary, 2 | 1 | Oct 10, 2025 |
| Thyroid dyshormonogenesis 1 | 1 | Mar 9, 2023 |
| Thyroid dyshormonogenesis 6 | 25 | Jun 2, 2026 |
| Thyroid hormone resistance, generalized, autosomal dominant | 5 | Jun 2, 2026 |
| Thyroxine-binding globulin quantitative trait locus | 1 | Mar 17, 2026 |
| Tietz syndrome | 1 | Sep 4, 2022 |
| Timothy syndrome | 5 | Jun 2, 2026 |
| Tolchin-Le Caignec syndrome | 3 | Jun 2, 2026 |
| Tooth agenesis, selective, 10 | 2 | Oct 10, 2025 |
| Tooth agenesis, selective, 4 | 2 | Apr 7, 2025 |
| Tooth agenesis, selective, 7 | 1 | Mar 17, 2026 |
| Tooth agenesis, selective, X-linked, 1 | 1 | Jun 2, 2026 |
| Torsion dystonia 2 | 1 | Jun 2, 2026 |
| Torsion dystonia 6 | 3 | Jun 2, 2026 |
| Townes-Brocks syndrome 1 | 3 | Apr 7, 2025 |
| Townes-Brocks syndrome 2 | 1 | Jun 2, 2026 |
| Transcobalamin II deficiency | 3 | Jun 2, 2026 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 3 | Oct 10, 2025 |
| Transketolase deficiency | 1 | Oct 10, 2025 |
| Treacher Collins syndrome 1 | 24 | Jun 2, 2026 |
| Treacher Collins syndrome 2 | 2 | Mar 9, 2023 |
| Treacher Collins syndrome 3 | 1 | Sep 26, 2024 |
| Treacher Collins syndrome 4 | 4 | Jun 2, 2026 |
| Tremor, hereditary essential, 5 | 1 | Oct 10, 2025 |
| Tricho-dento-osseous syndrome | 1 | Jun 2, 2026 |
| Trichohepatoenteric syndrome 1 | 2 | May 28, 2022 |
| Trichohepatoenteric syndrome 2 | 5 | Oct 10, 2025 |
| Trichohepatoneurodevelopmental syndrome | 2 | Mar 25, 2022 |
| Trichorhinophalangeal dysplasia type I | 2 | Oct 10, 2025 |
| Trichorhinophalangeal syndrome, type III | 1 | May 28, 2022 |
| Trichothiodystrophy 1, photosensitive | 3 | Oct 10, 2025 |
| Trichothiodystrophy 4, nonphotosensitive | 1 | Apr 7, 2025 |
| Trichothiodystrophy 8, nonphotosensitive | 2 | Sep 26, 2024 |
| Triglyceride storage disease with ichthyosis | 2 | Oct 10, 2025 |
| Trigonocephaly-short stature-developmental delay syndrome | 2 | Sep 26, 2024 |
| Trimethylaminuria | 4 | Jun 2, 2026 |
| Triosephosphate isomerase deficiency | 1 | Mar 25, 2022 |
| Tropical pancreatitis | 1 | May 26, 2025 |
| Troyer syndrome | 3 | Apr 7, 2025 |
| Tuberous sclerosis 1 | 25 | Jun 2, 2026 |
| Tuberous sclerosis 2 | 84 | Jun 2, 2026 |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 3 | Jun 2, 2026 |
| Tumor predisposition syndrome 2 | 1 | Oct 10, 2025 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 2 | Jun 2, 2026 |
| Turnpenny-fry syndrome | 1 | Jun 2, 2026 |
| Type 2 diabetes mellitus | 2 | Jun 2, 2026 |
| Type A2 brachydactyly | 2 | Apr 7, 2025 |
| Type II complement component 8 deficiency | 2 | Jun 2, 2026 |
| Tyrosinase-positive oculocutaneous albinism | 31 | Jun 2, 2026 |
| Tyrosinemia type I | 19 | Jun 2, 2026 |
| Tyrosinemia type II | 1 | Oct 10, 2025 |
| Tyrosinemia type III | 2 | Jun 2, 2026 |
| UBAP1L-related disorder | 1 | Jun 2, 2026 |
| UBE2H-related disorder | 1 | Jun 2, 2026 |
| UBE4A-related disorder | 1 | Jan 11, 2022 |
| UDPglucose-4-epimerase deficiency | 3 | Jun 2, 2026 |
| UNC13A-related disorder | 1 | Jun 2, 2026 |
| UNC45A-related disorder | 1 | Jun 2, 2026 |
| UNC79-related disorder | 7 | Jun 2, 2026 |
| UNC79-related neurodevelopmental disorder | 1 | Oct 10, 2025 |
| UPF1-related disorder | 2 | Jun 2, 2026 |
| USH2A-related disorder | 7 | Jun 2, 2026 |
| USP8-related disorder | 1 | Jun 2, 2026 |
| Ullrich congenital muscular dystrophy 1A | 18 | Jun 2, 2026 |
| Ullrich congenital muscular dystrophy 1B | 1 | Oct 10, 2025 |
| Ullrich congenital muscular dystrophy 1C | 1 | Oct 10, 2025 |
| Ullrich congenital muscular dystrophy 2 | 5 | Jun 2, 2026 |
| Ulnar-mammary syndrome | 1 | Mar 9, 2023 |
| Unverricht-Lundborg syndrome | 1 | Jun 2, 2026 |
| Upshaw-Schulman syndrome | 4 | Jun 2, 2026 |
| Urocanate hydratase deficiency | 2 | Jun 2, 2026 |
| Uruguay Faciocardiomusculoskeletal syndrome | 1 | Jul 18, 2023 |
| Usher syndrome type 1 | 33 | Jun 2, 2026 |
| Usher syndrome type 1C | 5 | Oct 10, 2025 |
| Usher syndrome type 1D | 13 | Jun 2, 2026 |
| Usher syndrome type 1F | 1 | May 28, 2022 |
| Usher syndrome type 1G | 2 | May 26, 2025 |
| Usher syndrome type 2A | 56 | Jun 2, 2026 |
| Usher syndrome type 2C | 17 | Jun 2, 2026 |
| Usher syndrome type 2D | 1 | Sep 26, 2024 |
| Usher syndrome type 3A | 1 | Jan 11, 2022 |
| Usher syndrome, type 4 | 3 | Jun 2, 2026 |
| Usmani-Riazuddin syndrome, autosomal dominant | 3 | Oct 10, 2025 |
| VCP-related disorder | 2 | Jun 2, 2026 |
| VISS syndrome | 2 | Sep 26, 2024 |
| VPS13A-related neurodegenerative disease | 8 | Jun 2, 2026 |
| VTN-related disorder | 1 | Jun 2, 2026 |
| VWF-related disorder | 3 | Jun 2, 2026 |
| Van Maldergem syndrome 1 | 5 | Sep 26, 2024 |
| Van Maldergem syndrome 2 | 4 | Sep 26, 2024 |
| Van den Ende-Gupta syndrome | 2 | Jun 2, 2026 |
| Van der Woude syndrome 2 | 2 | Jun 2, 2026 |
| Vanishing white matter disease | 3 | Mar 9, 2023 |
| Variegate porphyria, childhood-onset | 3 | Jun 2, 2026 |
| Velocardiofacial syndrome | 5 | Jun 2, 2026 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 1 | Oct 10, 2025 |
| Ventricular fibrillation, paroxysmal familial, type 1 | 2 | Apr 7, 2025 |
| Ventricular septal defect 1 | 1 | Oct 10, 2025 |
| Ventricular septal defect 3 | 1 | Sep 4, 2022 |
| Ventriculomegaly and arthrogryposis | 5 | Jun 2, 2026 |
| Ventriculomegaly-cystic kidney disease | 1 | Jun 2, 2026 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 3 | Jun 2, 2026 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 1 | Jun 2, 2026 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 2 | Jan 11, 2022 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 1 | Sep 4, 2022 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 2 | Oct 10, 2025 |
| Ververi-Brady syndrome | 1 | Apr 7, 2025 |
| Ververi-Brady syndrome 1 | 1 | Oct 10, 2025 |
| Ververi-Brady syndrome 2 | 2 | Jun 2, 2026 |
| Very long chain acyl-CoA dehydrogenase deficiency | 8 | Jun 2, 2026 |
| Vici syndrome | 7 | Jun 2, 2026 |
| Visceral myopathy 1 | 3 | Jun 2, 2026 |
| Visceral neuropathy, familial, 1, autosomal recessive | 1 | Oct 10, 2025 |
| Visceral neuropathy, familial, 2, autosomal recessive | 3 | Sep 26, 2024 |
| Vissers-Bodmer syndrome | 7 | Jun 2, 2026 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 1 | Oct 10, 2025 |
| Vitamin D-dependent rickets type II with alopecia | 5 | Oct 10, 2025 |
| Vitamin D-dependent rickets, type 1A | 7 | Jun 2, 2026 |
| Vitelliform macular dystrophy 2 | 7 | Jun 2, 2026 |
| Vitelliform macular dystrophy 3 | 1 | Jun 2, 2026 |
| Vitelliform macular dystrophy 4 | 1 | Apr 7, 2025 |
| Von Hippel-Lindau syndrome | 3 | Jun 2, 2026 |
| WAS-related disorder | 1 | Oct 10, 2025 |
| WDFY3-related disorder | 6 | Jun 2, 2026 |
| WDR35-related disorder | 1 | Jun 2, 2026 |
| WDR37-related disorder | 1 | Jun 2, 2026 |
| WDR44-related disorder | 1 | Jun 2, 2026 |
| WDR44-related neurodevelopmental disorder | 1 | Oct 10, 2025 |
| WFS1-related disorder | 1 | Oct 10, 2025 |
| WHIM syndrome 1 | 1 | Jun 2, 2026 |
| WSB2-related disorder | 2 | Jun 2, 2026 |
| WT1-related disorder | 5 | Jun 2, 2026 |
| WWOX-related disorder | 2 | Jun 2, 2026 |
| Waardenburg syndrome type 1 | 7 | Jun 2, 2026 |
| Waardenburg syndrome type 2A | 5 | Sep 4, 2022 |
| Waardenburg syndrome type 2E | 6 | Mar 17, 2026 |
| Waardenburg syndrome type 3 | 1 | Apr 7, 2025 |
| Waardenburg syndrome type 4A | 2 | May 26, 2025 |
| Waardenburg syndrome type 4C | 4 | Jun 2, 2026 |
| Wagner disease | 2 | Apr 7, 2025 |
| Warburg micro syndrome 1 | 3 | Jun 2, 2026 |
| Warburg micro syndrome 2 | 1 | Jun 2, 2026 |
| Warburg micro syndrome 4 | 1 | Jun 2, 2026 |
| Warburg-cinotti syndrome | 1 | Jun 2, 2026 |
| Warsaw breakage syndrome | 2 | Mar 9, 2023 |
| Weaver syndrome | 8 | Jun 2, 2026 |
| Weill-Marchesani 4 syndrome, recessive | 6 | Sep 26, 2024 |
| Weill-Marchesani syndrome 1 | 4 | Apr 7, 2025 |
| Weill-Marchesani syndrome 2, dominant | 2 | Sep 26, 2024 |
| Weill-Marchesani syndrome 3 | 4 | Jun 2, 2026 |
| Weiss-Kruszka syndrome | 4 | Jun 2, 2026 |
| Werner syndrome | 6 | Jun 2, 2026 |
| White-Kernohan syndrome | 2 | Jun 2, 2026 |
| Wieacker-Wolff syndrome | 4 | Jun 2, 2026 |
| Wieacker-Wolff syndrome, female-restricted | 3 | Oct 10, 2025 |
| Wiedemann-Steiner syndrome | 64 | Jun 2, 2026 |
| Wilms tumor 1 | 1 | Oct 10, 2025 |
| Wilms tumor 6 | 1 | Sep 26, 2024 |
| Wilms tumor 7 | 1 | Jun 2, 2026 |
| Wilson disease | 44 | Jun 2, 2026 |
| Wiskott-Aldrich syndrome | 12 | Jun 2, 2026 |
| Wolcott-Rallison dysplasia | 3 | Oct 10, 2025 |
| Wolff-Parkinson-White pattern | 2 | Jun 2, 2026 |
| Wolfram syndrome 1 | 23 | Jun 2, 2026 |
| Wolfram syndrome 2 | 1 | Sep 4, 2022 |
| Wolfram-like syndrome | 1 | Oct 10, 2025 |
| Wolman disease | 2 | Apr 7, 2025 |
| Woodhouse-Sakati syndrome | 1 | Jun 2, 2026 |
| Woolly hair-skin fragility syndrome | 1 | Jan 11, 2022 |
| Wrinkly skin syndrome | 1 | Sep 26, 2024 |
| X-linked Alport syndrome | 130 | Jun 2, 2026 |
| X-linked Emery-Dreifuss muscular dystrophy | 2 | Mar 9, 2023 |
| X-linked Opitz G/BBB syndrome | 6 | Jun 2, 2026 |
| X-linked agammaglobulinemia | 15 | Jun 2, 2026 |
| X-linked agammaglobulinemia with growth hormone deficiency | 3 | Sep 26, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 4 | Jun 2, 2026 |
| X-linked chondrodysplasia punctata 1 | 2 | Mar 9, 2023 |
| X-linked complicated corpus callosum dysgenesis | 2 | Jul 4, 2025 |
| X-linked cone-rod dystrophy 1 | 2 | Jun 2, 2026 |
| X-linked cone-rod dystrophy 3 | 6 | Jun 2, 2026 |
| X-linked distal spinal muscular atrophy type 3 | 8 | Sep 26, 2024 |
| X-linked dystonia-parkinsonism | 1 | Apr 7, 2025 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 3 | Sep 26, 2024 |
| X-linked intellectual disability Cabezas type | 11 | Jun 2, 2026 |
| X-linked intellectual disability with marfanoid habitus | 3 | Apr 7, 2025 |
| X-linked intellectual disability, Cantagrel type | 8 | Jun 2, 2026 |
| X-linked intellectual disability, Stocco dos Santos type | 1 | Nov 7, 2021 |
| X-linked intellectual disability, van Esch type | 4 | Jun 2, 2026 |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | 1 | Nov 7, 2021 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 5 | Oct 10, 2025 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 4 | Jun 2, 2026 |
| X-linked intellectual disability-short stature-overweight syndrome | 4 | Jun 2, 2026 |
| X-linked lissencephaly with abnormal genitalia | 2 | Oct 10, 2025 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 2 | Oct 10, 2025 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 4 | Jun 2, 2026 |
| X-linked mixed hearing loss with perilymphatic gusher | 3 | Jun 2, 2026 |
| X-linked myopathy with excessive autophagy | 1 | Oct 10, 2025 |
| X-linked progressive cerebellar ataxia | 1 | Sep 4, 2022 |
| X-linked recessive nephrolithiasis with renal failure | 1 | Oct 10, 2025 |
| X-linked reticulate pigmentary disorder | 2 | Jun 2, 2026 |
| X-linked severe combined immunodeficiency | 1 | Jun 2, 2026 |
| X-linked severe congenital neutropenia | 1 | Sep 26, 2024 |
| X-linked sideroblastic anemia 1 | 1 | Oct 10, 2025 |
| X-linked sideroblastic anemia with ataxia | 1 | Jun 2, 2026 |
| X-linked spondyloepimetaphyseal dysplasia | 1 | Oct 10, 2025 |
| XPO1-related neurodevelopmental disorder | 1 | Mar 17, 2026 |
| Xeroderma pigmentosum group A | 5 | Jun 2, 2026 |
| Xeroderma pigmentosum variant type | 3 | Jun 2, 2026 |
| Xeroderma pigmentosum, group C | 4 | Oct 10, 2025 |
| Xeroderma pigmentosum, group D | 1 | Sep 26, 2024 |
| Xeroderma pigmentosum, group E | 3 | Jul 18, 2023 |
| Xeroderma pigmentosum, group G | 2 | Oct 10, 2025 |
| Xerosis and growth failure with immune and pulmonary dysfunction syndrome | 2 | Jun 2, 2026 |
| Yoon-Bellen neurodevelopmental syndrome | 6 | Jun 2, 2026 |
| Young syndrome | 1 | Jun 2, 2026 |
| ZDHHC16-related disorder | 2 | Jun 2, 2026 |
| ZFHX3-related disorder | 4 | Jun 2, 2026 |
| ZFHX4-related disorder | 4 | Jun 2, 2026 |
| ZNF496-related disorder | 2 | Jun 2, 2026 |
| ZNF865-related disorder | 1 | Jun 2, 2026 |
| ZNFX1-related disorder | 1 | Jan 11, 2022 |
| ZNRF3-related disorder | 2 | Jun 2, 2026 |
| ZRSR2-related disorder | 1 | Oct 10, 2025 |
| ZTTK syndrome | 15 | Jun 2, 2026 |
| Zaki syndrome | 3 | Jun 2, 2026 |
| Zimmermann-Laband syndrome 2 | 1 | Mar 17, 2026 |
| Zimmermann-Laband syndrome 3 | 3 | Jun 2, 2026 |
| alpha Thalassemia | 12 | Jun 2, 2026 |
| beta Thalassemia | 3 | May 28, 2022 |
| von Willebrand disease type 1 | 1 | Jun 2, 2026 |
| von Willebrand disease type 2 | 6 | Jun 2, 2026 |
| von Willebrand disease type 3 | 7 | Jun 2, 2026 |
