| 3 beta-Hydroxysteroid dehydrogenase deficiency | 2 | May 28, 2022 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | May 28, 2022 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 1 | Mar 9, 2023 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Mar 25, 2022 |
| 3-methylglutaconic aciduria type 1 | 1 | Jan 11, 2022 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2 | Sep 26, 2024 |
| 3-methylglutaconic aciduria, type VIIA | 1 | Sep 4, 2022 |
| 3-methylglutaconic aciduria, type VIIB | 1 | Sep 26, 2024 |
| 3M syndrome 1 | 8 | Sep 26, 2024 |
| 3M syndrome 2 | 9 | Sep 26, 2024 |
| 3MC syndrome 1 | 1 | Sep 26, 2024 |
| 46,XY sex reversal 11 | 1 | May 28, 2022 |
| 46,XY sex reversal 3 | 8 | Jul 18, 2023 |
| 46,XY sex reversal 7 | 1 | Jul 18, 2023 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Mar 9, 2023 |
| 8q24.3 microdeletion syndrome | 1 | Nov 5, 2021 |
| ACCES syndrome | 1 | Sep 26, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 13 | Sep 26, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 5 | Jul 18, 2023 |
| ALDH18A1-related de Barsy syndrome | 2 | Sep 4, 2022 |
| ALG1-congenital disorder of glycosylation | 4 | Sep 26, 2024 |
| ALG11-congenital disorder of glycosylation | 1 | Sep 4, 2022 |
| ALG3-congenital disorder of glycosylation | 2 | Sep 26, 2024 |
| AMED syndrome, digenic | 1 | Nov 5, 2021 |
| ANO1-related fatal neonatal disease due to impaired chloride currents | 1 | Mar 25, 2022 |
| Aarskog syndrome | 4 | Jul 18, 2023 |
| Abetalipoproteinaemia | 1 | May 28, 2022 |
| Achondrogenesis, type IA | 1 | Sep 26, 2024 |
| Achondroplasia | 1 | Sep 4, 2022 |
| Achromatopsia 2 | 3 | Sep 4, 2022 |
| Achromatopsia 3 | 6 | May 28, 2022 |
| Acrocallosal syndrome | 1 | Sep 26, 2024 |
| Acrocapitofemoral dysplasia | 1 | Jul 18, 2023 |
| Acrocephalosyndactyly type I | 2 | Mar 9, 2023 |
| Acrodysostosis 1 with or without hormone resistance | 1 | Jul 18, 2023 |
| Acrodysostosis 2 with or without hormone resistance | 1 | Mar 9, 2023 |
| Acromelic frontonasal dysostosis | 1 | Mar 9, 2023 |
| Acromesomelic dysplasia 1, Maroteaux type | 4 | Jan 11, 2022 |
| Acromicric dysplasia | 2 | Sep 26, 2024 |
| Acroosteolysis-keloid-like lesions-premature aging syndrome | 1 | Jan 11, 2022 |
| Actin accumulation myopathy | 1 | Jan 11, 2022 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 2 | Mar 9, 2023 |
| Acute intermittent porphyria | 2 | Mar 9, 2023 |
| Acute myeloid leukemia | 2 | Sep 26, 2024 |
| Acyl-CoA oxidase deficiency | 1 | May 28, 2022 |
| Adams-Oliver syndrome 2 | 8 | Sep 26, 2024 |
| Adams-Oliver syndrome 4 | 1 | Nov 5, 2021 |
| Adams-Oliver syndrome 6 | 1 | Nov 5, 2021 |
| Adenosine kinase deficiency | 1 | Mar 9, 2023 |
| Adenylosuccinate lyase deficiency | 2 | Jul 18, 2023 |
| Adrenoleukodystrophy | 14 | Jul 18, 2023 |
| Agammaglobulinemia 2, autosomal recessive | 1 | May 28, 2022 |
| Agammaglobulinemia 8b, autosomal recessive | 4 | Sep 26, 2024 |
| Agenesis of the corpus callosum with peripheral neuropathy | 1 | Sep 26, 2024 |
| Aicardi-Goutieres syndrome 1 | 3 | Mar 9, 2023 |
| Aicardi-Goutieres syndrome 2 | 1 | Mar 25, 2022 |
| Aicardi-Goutieres syndrome 3 | 1 | Jan 11, 2022 |
| Aicardi-Goutieres syndrome 4 | 4 | Sep 4, 2022 |
| Aicardi-Goutieres syndrome 6 | 1 | Sep 4, 2022 |
| Aicardi-Goutieres syndrome 7 | 1 | Nov 5, 2021 |
| Alacrima, achalasia, and intellectual disability syndrome | 1 | Sep 26, 2024 |
| Alagille syndrome due to a JAG1 point mutation | 9 | Jul 18, 2023 |
| Alagille syndrome due to a NOTCH2 point mutation | 1 | Sep 26, 2024 |
| Alexander disease | 3 | Mar 25, 2022 |
| Alkaptonuria | 1 | Jul 18, 2023 |
| Allan-Herndon-Dudley syndrome | 4 | May 28, 2022 |
| Alopecia universalis congenita | 1 | May 28, 2022 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 5 | Sep 26, 2024 |
| Alstrom syndrome | 4 | Sep 4, 2022 |
| Alternating hemiplegia of childhood 2 | 7 | Sep 4, 2022 |
| Alzheimer disease 3 | 3 | Sep 4, 2022 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 1 | Mar 9, 2023 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 1 | Jan 11, 2022 |
| Amyloidosis, hereditary systemic 1 | 6 | Jun 28, 2024 |
| Amyotrophic lateral sclerosis type 1 | 3 | Jul 18, 2023 |
| Amyotrophic lateral sclerosis type 2, juvenile | 2 | Mar 9, 2023 |
| Amyotrophic lateral sclerosis type 6 | 1 | Jan 11, 2022 |
| Andersen Tawil syndrome | 1 | May 28, 2022 |
| Androgen resistance syndrome | 9 | Aug 2, 2024 |
| Anemia, congenital dyserythropoietic, type 1a | 1 | Sep 26, 2024 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Jul 18, 2023 |
| Aneurysm, intracranial berry, 12 | 1 | Mar 9, 2023 |
| Angelman syndrome | 5 | Mar 9, 2023 |
| Annular epidermolytic ichthyosis | 1 | Sep 4, 2022 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 1 | Nov 5, 2021 |
| Anterior segment dysgenesis 3 | 3 | May 28, 2022 |
| Anterior segment dysgenesis 7 | 1 | Jan 11, 2022 |
| Anterior segment dysgenesis 8 | 1 | Jan 11, 2022 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 1 | Sep 26, 2024 |
| Aortic aneurysm, familial thoracic 4 | 1 | May 28, 2022 |
| Aortic aneurysm, familial thoracic 9 | 1 | Jan 11, 2022 |
| Aortic valve disease 2 | 1 | Mar 9, 2023 |
| Aortic valve disease 3 | 1 | Jan 11, 2022 |
| Apparent mineralocorticoid excess | 1 | May 28, 2022 |
| Arginase deficiency | 1 | Jan 11, 2022 |
| Argininosuccinate lyase deficiency | 2 | Jul 18, 2023 |
| Armfield syndrome | 1 | Mar 9, 2023 |
| Aromatase deficiency | 2 | Sep 26, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Jul 18, 2023 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Jan 11, 2022 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 2 | Mar 9, 2023 |
| 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 | 2 | Sep 4, 2022 |
| Arthrogryposis, distal, type 1A | 1 | Nov 5, 2021 |
| Arthrogryposis, distal, with impaired proprioception and touch | 5 | Jul 18, 2023 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 3 | Mar 25, 2022 |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | 1 | Sep 26, 2024 |
| Arts syndrome | 1 | Jun 22, 2023 |
| Aspartylglucosaminuria | 2 | Mar 9, 2023 |
| Asphyxiating thoracic dystrophy 3 | 7 | Jul 18, 2023 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 | Sep 26, 2024 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 | Jan 11, 2022 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 2 | Jan 11, 2022 |
| Ataxia-telangiectasia syndrome | 32 | Aug 2, 2024 |
| Atelosteogenesis type I | 1 | Jan 11, 2022 |
| Atelosteogenesis type III | 1 | Jul 18, 2023 |
| Atrial fibrillation, familial, 3 | 1 | May 28, 2022 |
| Atrial septal defect 5 | 1 | Mar 25, 2022 |
| Atrophia bulborum hereditaria | 2 | Sep 4, 2022 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 2 | Mar 9, 2023 |
| Au-Kline syndrome | 3 | Jul 18, 2023 |
| Auditory neuropathy, autosomal dominant 3 | 1 | Mar 9, 2023 |
| Auditory neuropathy-optic atrophy syndrome | 3 | Mar 9, 2023 |
| Auriculocondylar syndrome 1 | 1 | Jan 11, 2022 |
| Auriculocondylar syndrome 2 | 2 | May 28, 2022 |
| Autism spectrum disorder due to AUTS2 deficiency | 3 | Sep 26, 2024 |
| Autism, susceptibility to, 17 | 1 | Nov 5, 2021 |
| Autism, susceptibility to, 5 | 2 | Sep 26, 2024 |
| Autism, susceptibility to, X-linked 4 | 2 | Sep 26, 2024 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 4 | May 28, 2022 |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 | Mar 25, 2022 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 | Aug 2, 2024 |
| Autoimmune lymphoproliferative syndrome type 1 | 1 | Sep 4, 2022 |
| Autoimmune lymphoproliferative syndrome type 4 | 1 | Jul 18, 2023 |
| Autoinflammation with arthritis and dyskeratosis | 1 | Mar 9, 2023 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 1 | Sep 4, 2022 |
| Autosomal dominant Alport syndrome | 3 | Mar 9, 2023 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 | Sep 4, 2022 |
| Autosomal dominant Kenny-Caffey syndrome | 2 | Sep 26, 2024 |
| Autosomal dominant Parkinson disease 1 | 1 | Sep 4, 2022 |
| Autosomal dominant Parkinson disease 8 | 1 | May 28, 2022 |
| Autosomal dominant Robinow syndrome 2 | 1 | Nov 17, 2021 |
| Autosomal dominant Robinow syndrome 3 | 1 | Sep 26, 2024 |
| Autosomal dominant centronuclear myopathy | 2 | Jul 18, 2023 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Sep 4, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Mar 9, 2023 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 4 | Jul 18, 2023 |
| Autosomal dominant distal renal tubular acidosis | 1 | Jul 18, 2023 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Mar 9, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 7 | Sep 26, 2024 |
| Autosomal dominant isolated somatotropin deficiency | 1 | Mar 9, 2023 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 1 | Mar 25, 2022 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | May 28, 2022 |
| Autosomal dominant nonsyndromic hearing loss 11 | 2 | Mar 9, 2023 |
| Autosomal dominant nonsyndromic hearing loss 12 | 4 | Sep 4, 2022 |
| 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 | 6 | Mar 9, 2023 |
| Autosomal dominant nonsyndromic hearing loss 23 | 2 | May 28, 2022 |
| Autosomal dominant nonsyndromic hearing loss 27 | 1 | Sep 26, 2024 |
| Autosomal dominant nonsyndromic hearing loss 36 | 1 | Jan 11, 2022 |
| Autosomal dominant nonsyndromic hearing loss 3A | 3 | Sep 4, 2022 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | Mar 25, 2022 |
| Autosomal dominant nonsyndromic hearing loss 6 | 2 | Aug 2, 2024 |
| 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 | 3 | Mar 25, 2022 |
| Autosomal dominant vitreoretinochoroidopathy | 2 | Sep 4, 2022 |
| Autosomal recessive Alport syndrome | 27 | Aug 2, 2024 |
| Autosomal recessive DOPA responsive dystonia | 6 | Jul 18, 2023 |
| Autosomal recessive Parkinson disease 14 | 1 | Sep 4, 2022 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 3 | Jul 18, 2023 |
| Autosomal recessive ataxia, Beauce type | 1 | Sep 4, 2022 |
| Autosomal recessive axonal neuropathy with neuromyotonia | 2 | Mar 9, 2023 |
| Autosomal recessive bestrophinopathy | 5 | Mar 9, 2023 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 3 | Mar 9, 2023 |
| Autosomal recessive complex spastic paraplegia type 9B | 2 | Jan 11, 2022 |
| Autosomal recessive congenital ichthyosis 1 | 7 | Mar 25, 2022 |
| Autosomal recessive congenital ichthyosis 10 | 3 | Sep 26, 2024 |
| Autosomal recessive congenital ichthyosis 2 | 1 | Mar 25, 2022 |
| Autosomal recessive congenital ichthyosis 4A | 4 | Sep 4, 2022 |
| Autosomal recessive congenital ichthyosis 5 | 2 | Mar 9, 2023 |
| Autosomal recessive cutis laxa type 2B | 2 | Mar 25, 2022 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Sep 4, 2022 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 5 | Jul 18, 2023 |
| Autosomal recessive juvenile Parkinson disease 2 | 1 | May 28, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 12 | Aug 2, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 5 | Jul 18, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 1 | May 28, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | Jul 18, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | May 28, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | May 28, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Mar 9, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 4 | Mar 9, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 | Jan 11, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 4 | Mar 9, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 | May 28, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Jan 11, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 3 | Mar 9, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 2 | Mar 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 18 | Apr 21, 2024 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18A | 2 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 18B | 3 | Jan 11, 2022 |
| Autosomal recessive nonsyndromic hearing loss 1A | 7 | Jul 18, 2023 |
| Autosomal recessive nonsyndromic hearing loss 2 | 2 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 21 | 5 | Sep 4, 2022 |
| 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 | 3 | Mar 25, 2022 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 3 | 18 | Jul 18, 2023 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 | Sep 26, 2024 |
| Autosomal recessive nonsyndromic hearing loss 36 | 2 | Jul 18, 2023 |
| Autosomal recessive nonsyndromic hearing loss 37 | 3 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 4 | 16 | Mar 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 42 | 3 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 49 | 2 | Jul 18, 2023 |
| 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 63 | 5 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 7 | 5 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 77 | 5 | Mar 25, 2022 |
| Autosomal recessive nonsyndromic hearing loss 8 | 6 | Jul 18, 2023 |
| Autosomal recessive nonsyndromic hearing loss 84B | 3 | Sep 4, 2022 |
| Autosomal recessive nonsyndromic hearing loss 89 | 2 | May 28, 2022 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Jul 18, 2023 |
| Autosomal recessive osteopetrosis 1 | 9 | Sep 26, 2024 |
| Autosomal recessive osteopetrosis 2 | 1 | Mar 25, 2022 |
| Autosomal recessive osteopetrosis 4 | 1 | May 28, 2022 |
| Autosomal recessive osteopetrosis 7 | 1 | Mar 9, 2023 |
| Autosomal recessive proximal renal tubular acidosis | 1 | Mar 9, 2023 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 | Mar 9, 2023 |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 | Sep 26, 2024 |
| Autosomal recessive spastic paraplegia type 76 | 1 | Jan 11, 2022 |
| Autosomal recessive spastic paraplegia type 78 | 2 | Sep 26, 2024 |
| Autosomal recessive spinocerebellar ataxia 10 | 3 | Sep 4, 2022 |
| Autosomal recessive spinocerebellar ataxia 13 | 1 | Jul 18, 2023 |
| Autosomal recessive spinocerebellar ataxia 14 | 2 | Mar 9, 2023 |
| Autosomal recessive spinocerebellar ataxia 16 | 3 | May 28, 2022 |
| Autosomal recessive spinocerebellar ataxia 17 | 1 | Mar 25, 2022 |
| Autosomal recessive spinocerebellar ataxia 2 | 2 | Jul 18, 2023 |
| Autosomal systemic lupus erythematosus type 16 | 2 | Mar 9, 2023 |
| Axenfeld-Rieger syndrome type 3 | 3 | May 28, 2022 |
| Ayme-Gripp syndrome | 1 | Nov 5, 2021 |
| BNAR syndrome | 2 | Sep 26, 2024 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | Sep 4, 2022 |
| BRSK2-related disorder | 1 | May 28, 2022 |
| Bailey-Bloch congenital myopathy | 1 | Jan 11, 2022 |
| Baller-Gerold syndrome | 1 | Sep 26, 2024 |
| Baraitser-Winter syndrome 1 | 6 | Mar 9, 2023 |
| Baraitser-winter syndrome 2 | 2 | Jan 11, 2022 |
| Bardet-Biedl syndrome 1 | 4 | Sep 4, 2022 |
| Bardet-Biedl syndrome 10 | 3 | Jan 11, 2022 |
| Bardet-Biedl syndrome 14 | 2 | Sep 4, 2022 |
| 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 | 2 | May 28, 2022 |
| Bardet-Biedl syndrome 4 | 1 | Sep 26, 2024 |
| Bardet-Biedl syndrome 5 | 2 | Jan 11, 2022 |
| Bardet-Biedl syndrome 6 | 2 | Sep 26, 2024 |
| Bardet-Biedl syndrome 7 | 4 | Sep 4, 2022 |
| Bartter disease type 1 | 7 | Mar 9, 2023 |
| Bartter disease type 2 | 3 | Jul 18, 2023 |
| Bartter disease type 3 | 1 | Jan 11, 2022 |
| Bartter disease type 4A | 1 | May 28, 2022 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 5 | Sep 26, 2024 |
| Basilicata-Akhtar syndrome | 2 | Sep 4, 2022 |
| Beck-Fahrner syndrome | 2 | Jul 18, 2023 |
| Becker muscular dystrophy | 1 | May 28, 2022 |
| Benign familial hematuria | 10 | Jul 18, 2023 |
| Benign hereditary chorea | 1 | Mar 9, 2023 |
| Benign recurrent intrahepatic cholestasis type 1 | 2 | Sep 26, 2024 |
| Benign recurrent intrahepatic cholestasis type 2 | 1 | Sep 26, 2024 |
| Bernard Soulier syndrome | 2 | Sep 4, 2022 |
| Beta-D-mannosidosis | 3 | Sep 26, 2024 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2 | Sep 26, 2024 |
| Beta-thalassemia HBB/LCRB | 4 | Jul 18, 2023 |
| Bethlem myopathy 1A | 10 | Mar 9, 2023 |
| Bietti crystalline corneoretinal dystrophy | 3 | Jul 18, 2023 |
| Bifunctional peroxisomal enzyme deficiency | 3 | Sep 4, 2022 |
| Bilateral frontoparietal polymicrogyria | 4 | Jul 18, 2023 |
| Bile acid malabsorption, primary, 1 | 2 | Sep 4, 2022 |
| Biotin-responsive basal ganglia disease | 1 | Jan 11, 2022 |
| Biotinidase deficiency | 3 | Mar 9, 2023 |
| Blau syndrome | 1 | Mar 9, 2023 |
| Blepharocheilodontic syndrome 2 | 1 | Jan 11, 2022 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 1 | Sep 4, 2022 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 4 | Sep 26, 2024 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 5 | Sep 4, 2022 |
| Blepharophimosis-impaired intellectual development syndrome | 3 | Sep 26, 2024 |
| Bloom syndrome | 1 | Jul 18, 2023 |
| Bohring-Opitz syndrome | 2 | Sep 4, 2022 |
| Bone marrow failure syndrome 3 | 2 | Sep 4, 2022 |
| Bone marrow failure syndrome 6 | 1 | Jan 11, 2022 |
| Bone mineral density quantitative trait locus 18 | 2 | May 28, 2022 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Nov 5, 2021 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 4 | Nov 7, 2021 |
| Bothnia retinal dystrophy | 1 | Jan 11, 2022 |
| Brachydactyly type B1 | 1 | Jul 18, 2023 |
| Brachyolmia-amelogenesis imperfecta syndrome | 2 | Sep 4, 2022 |
| Brain malformations with or without urinary tract defects | 1 | Mar 9, 2023 |
| Brain small vessel disease 1 with or without ocular anomalies | 9 | Mar 9, 2023 |
| Brain-lung-thyroid syndrome | 3 | Mar 9, 2023 |
| Branchiooculofacial syndrome | 1 | Jul 18, 2023 |
| Branchiootic syndrome 3 | 1 | Sep 4, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Mar 9, 2023 |
| Brody myopathy | 1 | Mar 9, 2023 |
| Brown-Vialetto-van Laere syndrome 2 | 1 | Sep 26, 2024 |
| Bruck syndrome 1 | 3 | Jul 18, 2023 |
| Bruck syndrome 2 | 2 | Sep 26, 2024 |
| Brugada syndrome 9 | 1 | Nov 5, 2021 |
| Brunet-Wagner neurodevelopmental syndrome | 1 | Jan 11, 2022 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 2 | Jul 18, 2023 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 | May 28, 2022 |
| CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | 1 | Mar 9, 2023 |
| CBL-related disorder | 3 | Aug 2, 2024 |
| CDC42BPB-related disorder | 1 | Mar 25, 2022 |
| CEBALID syndrome | 3 | Jul 18, 2023 |
| CHARGE syndrome | 29 | Sep 26, 2024 |
| CHIME syndrome | 3 | May 28, 2022 |
| CHRM1-related neurodevelopmental disorder | 1 | Aug 2, 2024 |
| CK syndrome | 1 | Sep 26, 2024 |
| CLDN5-related neurodevelopmental disorder | 1 | Jul 18, 2023 |
| COACH syndrome 1 | 1 | Sep 4, 2022 |
| CODAS syndrome | 4 | Sep 26, 2024 |
| COG1 congenital disorder of glycosylation | 2 | Sep 26, 2024 |
| COG5-congenital disorder of glycosylation | 1 | Sep 26, 2024 |
| COG7 congenital disorder of glycosylation | 1 | Sep 4, 2022 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 3 | Mar 25, 2022 |
| Camptomelic dysplasia | 1 | Jan 11, 2022 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 14 | Sep 26, 2024 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | May 28, 2022 |
| Cardiac, facial, and digital anomalies with developmental delay | 1 | Nov 5, 2021 |
| Cardiac-urogenital syndrome | 2 | May 28, 2022 |
| Cardioacrofacial dysplasia 1 | 1 | Mar 25, 2022 |
| Cardioacrofacial dysplasia 2 | 1 | May 28, 2022 |
| Cardiofaciocutaneous syndrome 1 | 11 | May 28, 2022 |
| Cardiofaciocutaneous syndrome 2 | 1 | Mar 9, 2023 |
| Cardiofaciocutaneous syndrome 3 | 3 | Jul 18, 2023 |
| Cardiofaciocutaneous syndrome 4 | 3 | Sep 26, 2024 |
| Cardiomyopathy, familial hypertrophic 27 | 8 | Jul 18, 2023 |
| Carnitine palmitoyl transferase 1A deficiency | 1 | Sep 4, 2022 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 2 | Sep 4, 2022 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 | Jul 18, 2023 |
| Cataract 1 multiple types | 4 | Aug 2, 2024 |
| Cataract 13 with adult I phenotype | 1 | May 28, 2022 |
| Cataract 3 multiple types | 1 | May 28, 2022 |
| Cataract 45 | 1 | May 28, 2022 |
| Cataract 5 multiple types | 2 | May 28, 2022 |
| Cataract 6 multiple types | 1 | May 28, 2022 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | 1 | Sep 26, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Aug 2, 2024 |
| Central core myopathy | 4 | Sep 4, 2022 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 3 | Mar 9, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 1 | Sep 26, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 5 | Sep 26, 2024 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | May 28, 2022 |
| Cerebellar ataxia-hypogonadism syndrome | 2 | Sep 26, 2024 |
| Cerebellar atrophy with seizures and variable developmental delay | 5 | Sep 26, 2024 |
| 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 | 1 | Nov 7, 2021 |
| Cerebellar-facial-dental syndrome | 3 | Mar 9, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 16 | Jul 18, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 4 | Sep 4, 2022 |
| Cerebral cavernous malformation | 3 | Jan 11, 2022 |
| Cerebral cavernous malformation 2 | 1 | Jan 11, 2022 |
| Cerebral cavernous malformation 3 | 1 | Jan 11, 2022 |
| Cerebrooculofacioskeletal syndrome 1 | 2 | Nov 5, 2021 |
| Cerebrooculofacioskeletal syndrome 2 | 3 | Sep 26, 2024 |
| Cernunnos-XLF deficiency | 2 | Sep 4, 2022 |
| Ceroid lipofuscinosis, neuronal, 6A | 3 | Mar 25, 2022 |
| Char syndrome | 1 | Jul 18, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 4 | Jul 18, 2023 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Jul 18, 2023 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | May 28, 2022 |
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Mar 25, 2022 |
| Charcot-Marie-Tooth disease axonal type 2O | 2 | May 28, 2022 |
| Charcot-Marie-Tooth disease axonal type 2S | 3 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease axonal type 2T | 2 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease axonal type 2X | 1 | Jan 11, 2022 |
| Charcot-Marie-Tooth disease axonal type 2Z | 2 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate D | 1 | Mar 9, 2023 |
| 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 | Sep 4, 2022 |
| Charcot-Marie-Tooth disease type 1B | 2 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease type 1F | 3 | Mar 7, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 8 | Jul 18, 2023 |
| Charcot-Marie-Tooth disease type 2B | 1 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease type 2D | 1 | Jan 11, 2022 |
| Charcot-Marie-Tooth disease type 2J | 1 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease type 4A | 3 | Jan 11, 2022 |
| Charcot-Marie-Tooth disease type 4C | 7 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease type 4D | 3 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease type 4F | 1 | May 28, 2022 |
| Charcot-Marie-Tooth disease type 4J | 1 | Sep 4, 2022 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 | Aug 2, 2024 |
| Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 | 1 | Apr 21, 2023 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 2 | Mar 9, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 | Jan 11, 2022 |
| Charcot-Marie-Tooth disease, type IA | 1 | Mar 9, 2023 |
| Charcot-marie-tooth disease, axonal, type 2DD | 1 | May 28, 2022 |
| Charlevoix-Saguenay spastic ataxia | 14 | Jul 18, 2023 |
| Child syndrome | 1 | Sep 26, 2024 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Mar 9, 2023 |
| Chitayat syndrome | 1 | Mar 25, 2022 |
| Cholestanol storage disease | 3 | Mar 9, 2023 |
| Cholestasis, progressive familial intrahepatic, 10 | 3 | Sep 26, 2024 |
| Cholestasis, progressive familial intrahepatic, 4 | 3 | Sep 26, 2024 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 9 | Sep 4, 2022 |
| Cholestasis, progressive familial intrahepatic, 8 | 1 | Sep 4, 2022 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 1 | Mar 9, 2023 |
| Chondrodysplasia Blomstrand type | 2 | Sep 26, 2024 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | May 28, 2022 |
| Chondrodysplasia with joint dislocations, gPAPP type | 1 | Sep 4, 2022 |
| Chopra-Amiel-Gordon syndrome | 5 | Sep 26, 2024 |
| Chorea-acanthocytosis | 2 | Sep 26, 2024 |
| Choroideremia | 4 | Mar 9, 2023 |
| Christianson syndrome | 2 | Sep 26, 2024 |
| Chromosome 1p32-p31 deletion syndrome | 2 | May 28, 2022 |
| Chromosome 2q32-q33 deletion syndrome | 8 | Mar 9, 2023 |
| Chronic infantile neurological, cutaneous and articular syndrome | 1 | Mar 9, 2023 |
| Chronic myelogenous leukemia, BCR-ABL1 positive | 1 | Mar 25, 2022 |
| Chudley-McCullough syndrome | 2 | Sep 26, 2024 |
| Chédiak-Higashi syndrome | 2 | Mar 9, 2023 |
| Ciliary dyskinesia, primary, 36, X-linked | 1 | Sep 4, 2022 |
| Ciliary dyskinesia, primary, 40 | 3 | Mar 25, 2022 |
| Ciliary dyskinesia, primary, 44 | 1 | Sep 4, 2022 |
| Ciliary dyskinesia, primary, 48, without situs inversus | 1 | Mar 9, 2023 |
| Citrullinemia type I | 6 | May 28, 2022 |
| Citrullinemia, type II, adult-onset | 1 | Sep 26, 2024 |
| Clark-Baraitser syndrome | 1 | Jul 18, 2023 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 19 | Sep 4, 2022 |
| Classic homocystinuria | 5 | Mar 9, 2023 |
| Cleidocranial dysostosis | 3 | Mar 9, 2023 |
| Cobalamin C disease | 4 | Mar 9, 2023 |
| Cockayne syndrome type 1 | 1 | Jan 11, 2022 |
| Cockayne syndrome type 2 | 5 | Jul 18, 2023 |
| Coffin-Lowry syndrome | 3 | Mar 9, 2023 |
| Coffin-Siris syndrome 1 | 32 | Sep 26, 2024 |
| Coffin-Siris syndrome 10 | 1 | Mar 25, 2022 |
| Coffin-Siris syndrome 6 | 6 | Sep 26, 2024 |
| Coffin-Siris syndrome 7 | 1 | Nov 7, 2021 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Nov 5, 2021 |
| Cognitive impairment with or without cerebellar ataxia | 2 | Mar 28, 2022 |
| Cohen syndrome | 5 | Sep 26, 2024 |
| Cold-induced sweating syndrome 1 | 1 | Mar 25, 2022 |
| Colorectal cancer | 4 | Sep 26, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Mar 25, 2022 |
| Combined deficiency of sialidase AND beta galactosidase | 1 | Sep 4, 2022 |
| Combined immunodeficiency due to DOCK8 deficiency | 2 | Sep 26, 2024 |
| Combined immunodeficiency due to LRBA deficiency | 8 | Sep 26, 2024 |
| 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 immunodeficiency with skin granulomas | 1 | May 28, 2022 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 2 | Jul 18, 2023 |
| 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 17 | 2 | Mar 25, 2022 |
| Combined oxidative phosphorylation defect type 20 | 4 | May 28, 2022 |
| Combined oxidative phosphorylation defect type 24 | 1 | Sep 26, 2024 |
| Combined oxidative phosphorylation defect type 8 | 2 | May 28, 2022 |
| Combined oxidative phosphorylation deficiency 35 | 1 | May 28, 2022 |
| Combined oxidative phosphorylation deficiency 39 | 2 | Mar 9, 2023 |
| Combined oxidative phosphorylation deficiency 40 | 1 | Mar 9, 2023 |
| Combined oxidative phosphorylation deficiency 44 | 2 | Sep 26, 2024 |
| Combined oxidative phosphorylation deficiency 52 | 1 | Jul 18, 2023 |
| Combined oxidative phosphorylation deficiency 54 | 1 | Sep 4, 2022 |
| Complement component C1s deficiency | 1 | Sep 4, 2022 |
| Complex cortical dysplasia with other brain malformations 1 | 4 | Nov 5, 2021 |
| Complex cortical dysplasia with other brain malformations 4 | 3 | Jul 18, 2023 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Nov 5, 2021 |
| Complex cortical dysplasia with other brain malformations 6 | 2 | Jul 18, 2023 |
| Complex cortical dysplasia with other brain malformations 7 | 2 | Mar 25, 2022 |
| Cone dystrophy 3 | 1 | Aug 2, 2024 |
| Cone dystrophy 4 | 6 | Jul 18, 2023 |
| Cone dystrophy with supernormal rod response | 2 | Jan 11, 2022 |
| Cone-rod dystrophy 13 | 3 | May 28, 2022 |
| Cone-rod dystrophy 16 | 1 | Jan 11, 2022 |
| Cone-rod dystrophy 2 | 3 | Jul 18, 2023 |
| Cone-rod dystrophy 3 | 1 | Mar 9, 2023 |
| Cone-rod dystrophy 6 | 1 | Mar 25, 2022 |
| Cone-rod dystrophy and hearing loss 1 | 1 | May 28, 2022 |
| Congenital absence of salivary gland | 1 | Jul 18, 2023 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 | Sep 26, 2024 |
| Congenital adrenal hypoplasia, X-linked | 2 | Jul 18, 2023 |
| Congenital afibrinogenemia | 1 | May 28, 2022 |
| Congenital amegakaryocytic thrombocytopenia | 3 | Sep 4, 2022 |
| 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 | 1 | Sep 4, 2022 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 2 | Jul 18, 2023 |
| Congenital bile acid synthesis defect 1 | 2 | May 28, 2022 |
| 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 | 1 | Sep 26, 2024 |
| Congenital central hypoventilation | 1 | Jan 11, 2022 |
| Congenital contractural arachnodactyly | 5 | Sep 26, 2024 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 5 | Mar 9, 2023 |
| Congenital defect of folate absorption | 2 | Sep 26, 2024 |
| Congenital diarrhea 5 with tufting enteropathy | 1 | Sep 26, 2024 |
| Congenital diarrhea 6 | 1 | Mar 25, 2022 |
| Congenital diarrhea 7 with exudative enteropathy | 2 | Sep 26, 2024 |
| Congenital disorder of deglycosylation | 1 | Jan 11, 2022 |
| Congenital disorder of deglycosylation 1 | 3 | Mar 9, 2023 |
| Congenital disorder of deglycosylation 2 | 3 | Mar 9, 2023 |
| Congenital disorder of glycosylation type 1E | 1 | Jan 11, 2022 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 2 | May 28, 2022 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 1 | Sep 4, 2022 |
| Congenital disorder of glycosylation, type ICC | 2 | Sep 26, 2024 |
| Congenital dyserythropoietic anemia, type II | 2 | Sep 4, 2022 |
| Congenital factor VII deficiency | 1 | Mar 9, 2023 |
| Congenital generalized lipodystrophy type 1 | 1 | May 28, 2022 |
| Congenital generalized lipodystrophy type 2 | 1 | May 28, 2022 |
| Congenital glucose-galactose malabsorption | 3 | May 28, 2022 |
| Congenital heart defects and skeletal malformations syndrome | 3 | Jan 11, 2022 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 6 | Jul 18, 2023 |
| Congenital heart defects, multiple types, 2 | 2 | Jul 18, 2023 |
| Congenital heart defects, multiple types, 4 | 1 | Nov 7, 2021 |
| Congenital hereditary endothelial dystrophy of cornea | 2 | Jan 11, 2022 |
| Congenital hyperammonemia, type I | 6 | Sep 26, 2024 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 1 | May 28, 2022 |
| 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 | 2 | Sep 4, 2022 |
| Congenital malabsorptive diarrhea 4 | 1 | Sep 26, 2024 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 4 | Sep 4, 2022 |
| Congenital microvillous atrophy | 3 | Sep 26, 2024 |
| Congenital multicore myopathy with external ophthalmoplegia | 6 | Sep 26, 2024 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | May 28, 2022 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 | Sep 26, 2024 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 2 | Jan 11, 2022 |
| Congenital muscular hypertrophy-cerebral syndrome | 5 | May 28, 2022 |
| Congenital myasthenic syndrome 10 | 4 | Sep 26, 2024 |
| Congenital myasthenic syndrome 12 | 4 | Mar 9, 2023 |
| Congenital myasthenic syndrome 13 | 2 | Jan 11, 2022 |
| Congenital myasthenic syndrome 16 | 1 | Jan 11, 2022 |
| Congenital myasthenic syndrome 1A | 2 | May 28, 2022 |
| Congenital myasthenic syndrome 21 | 1 | Jan 11, 2022 |
| Congenital myasthenic syndrome 3B | 5 | Sep 26, 2024 |
| Congenital myasthenic syndrome 3C | 1 | Sep 26, 2024 |
| Congenital myasthenic syndrome 4A | 2 | Jun 28, 2024 |
| Congenital myasthenic syndrome 4B | 3 | Mar 9, 2023 |
| Congenital myasthenic syndrome 5 | 2 | Mar 9, 2023 |
| Congenital myasthenic syndrome 7 | 1 | Mar 9, 2023 |
| Congenital myasthenic syndrome 8 | 8 | Sep 26, 2024 |
| Congenital myasthenic syndrome 9 | 1 | Sep 26, 2024 |
| Congenital myopathy 23 | 1 | Jul 18, 2023 |
| Congenital myotonia, autosomal recessive form | 4 | Sep 4, 2022 |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 1 | Sep 4, 2022 |
| Congenital primary aphakia | 2 | May 28, 2022 |
| Congenital reticular ichthyosiform erythroderma | 1 | Mar 9, 2023 |
| Congenital secretory diarrhea, chloride type | 4 | Jul 18, 2023 |
| Congenital secretory sodium diarrhea 3 | 1 | Aug 2, 2024 |
| Congenital secretory sodium diarrhea 8 | 3 | Sep 26, 2024 |
| Congenital stationary night blindness 1A | 1 | Jan 11, 2022 |
| Congenital stationary night blindness 1B | 1 | Jan 11, 2022 |
| Congenital stationary night blindness 1C | 1 | Jan 11, 2022 |
| Congenital stationary night blindness 1D | 2 | Jan 11, 2022 |
| Congenital stationary night blindness 1E | 2 | Sep 4, 2022 |
| Congenital stationary night blindness autosomal dominant 1 | 1 | May 28, 2022 |
| Conotruncal heart malformations | 3 | Sep 26, 2024 |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 3 | Jul 18, 2023 |
| Cornea plana 2 | 1 | May 28, 2022 |
| Corneal dystrophy, Fuchs endothelial, 6 | 1 | Mar 9, 2023 |
| Cornelia de Lange syndrome 1 | 14 | Aug 2, 2024 |
| Cornelia de Lange syndrome 3 | 4 | Jul 18, 2023 |
| Cornelia de Lange syndrome 5 | 4 | Sep 26, 2024 |
| Cortical dysplasia, complex, with other brain malformations 10 | 2 | Mar 9, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 4 | Sep 26, 2024 |
| Corticosterone methyloxidase type 2 deficiency | 5 | Mar 9, 2023 |
| Costello syndrome | 2 | Jan 11, 2022 |
| Cowden syndrome 1 | 4 | Mar 9, 2023 |
| Craniofrontonasal syndrome | 1 | May 28, 2022 |
| Craniolenticulosutural dysplasia | 1 | Mar 9, 2023 |
| Craniosynostosis 4 | 1 | Nov 5, 2021 |
| Craniosynostosis 7 | 1 | Jan 11, 2022 |
| Creatine transporter deficiency | 1 | Sep 26, 2024 |
| Crigler-Najjar syndrome type 1 | 1 | Mar 25, 2022 |
| Crigler-Najjar syndrome, type II | 3 | Mar 9, 2023 |
| Crouzon syndrome | 1 | Jul 18, 2023 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 | May 28, 2022 |
| Cutaneous porphyria | 1 | Jul 18, 2023 |
| Cutis laxa with osteodystrophy | 1 | Sep 26, 2024 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 4 | Sep 26, 2024 |
| Cutis laxa, X-linked | 9 | Sep 26, 2024 |
| Cutis laxa, autosomal dominant 3 | 2 | Mar 9, 2023 |
| Cutis laxa, autosomal recessive, type 2E | 2 | Nov 5, 2021 |
| Cystic fibrosis | 9 | Jul 18, 2023 |
| Cystinuria | 8 | Jul 18, 2023 |
| D-2-hydroxyglutaric aciduria 2 | 1 | Nov 5, 2021 |
| DEGCAGS syndrome | 1 | Mar 25, 2022 |
| DOCK1-related disorder | 1 | Jan 11, 2022 |
| DYRK1A-related intellectual disability syndrome | 9 | Mar 9, 2023 |
| Dalmatian hypouricemia | 2 | May 28, 2022 |
| Danon disease | 1 | Jul 18, 2023 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 5 | Sep 26, 2024 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Mar 25, 2022 |
| Deafness, X-linked 5 | 1 | Jan 11, 2022 |
| Deeah syndrome | 1 | Sep 26, 2024 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 4 | May 28, 2022 |
| Deficiency of acetyl-CoA acetyltransferase | 2 | Jul 18, 2023 |
| Deficiency of alpha-mannosidase | 3 | Sep 26, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 1 | Mar 9, 2023 |
| Deficiency of galactokinase | 1 | Jan 11, 2022 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 1 | Mar 9, 2023 |
| Deficiency of iodide peroxidase | 8 | Aug 2, 2024 |
| Deficiency of steroid 11-beta-monooxygenase | 9 | Mar 9, 2023 |
| Deficiency of transaldolase | 1 | Jul 18, 2023 |
| Dehydrated hereditary stomatocytosis 2 | 1 | Jan 11, 2022 |
| Dejerine-Sottas disease | 4 | May 28, 2022 |
| Dent disease type 1 | 1 | Mar 9, 2023 |
| Dent disease type 2 | 1 | Sep 26, 2024 |
| Dentinogenesis imperfecta type 2 | 2 | Mar 9, 2023 |
| Dermatitis, atopic, 2 | 2 | Sep 4, 2022 |
| Desbuquois dysplasia 1 | 3 | May 28, 2022 |
| Desmin-related myofibrillar myopathy | 4 | Jul 18, 2023 |
| Desmoid disease, hereditary | 1 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy 102 | 1 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy 111 | 1 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy 6B | 1 | Jan 11, 2022 |
| Developmental and epileptic encephalopathy 91 | 1 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy 92 | 2 | Jan 11, 2022 |
| Developmental and epileptic encephalopathy 94 | 3 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy 96 | 1 | Nov 7, 2021 |
| Developmental and epileptic encephalopathy 98 | 2 | Sep 19, 2024 |
| Developmental and epileptic encephalopathy 99 | 3 | Jan 11, 2022 |
| Developmental and epileptic encephalopathy, 1 | 2 | May 28, 2022 |
| Developmental and epileptic encephalopathy, 11 | 12 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 13 | 10 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 14 | 4 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy, 15 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 16 | 2 | Jan 11, 2022 |
| Developmental and epileptic encephalopathy, 17 | 3 | Jan 11, 2022 |
| Developmental and epileptic encephalopathy, 18 | 3 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 2 | 9 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 23 | 5 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 27 | 5 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 29 | 4 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 3 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 31A | 1 | Nov 7, 2021 |
| Developmental and epileptic encephalopathy, 32 | 2 | Nov 5, 2021 |
| Developmental and epileptic encephalopathy, 34 | 1 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy, 35 | 2 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 36 | 1 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 37 | 1 | Nov 5, 2021 |
| Developmental and epileptic encephalopathy, 4 | 9 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 41 | 1 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 42 | 10 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 43 | 2 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 44 | 1 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy, 46 | 4 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 47 | 1 | Nov 5, 2021 |
| Developmental and epileptic encephalopathy, 48 | 3 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 49 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 5 | 6 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 51 | 3 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 52 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 53 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 54 | 3 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 57 | 2 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 59 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 62 | 5 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy, 63 | 1 | Sep 4, 2022 |
| Developmental and epileptic encephalopathy, 64 | 4 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 65 | 3 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 66 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 69 | 2 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 7 | 14 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 71 | 1 | Mar 25, 2022 |
| Developmental and epileptic encephalopathy, 73 | 1 | Dec 18, 2022 |
| Developmental and epileptic encephalopathy, 74 | 2 | Nov 5, 2021 |
| Developmental and epileptic encephalopathy, 76 | 2 | May 28, 2022 |
| Developmental and epileptic encephalopathy, 77 | 2 | Sep 26, 2024 |
| Developmental and epileptic encephalopathy, 8 | 1 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 84 | 2 | Mar 9, 2023 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Nov 5, 2021 |
| Developmental and epileptic encephalopathy, 87 | 1 | Jul 18, 2023 |
| Developmental and epileptic encephalopathy, 9 | 4 | May 28, 2022 |
| Developmental and epileptic encephalopathy-107 | 1 | Jul 18, 2023 |
| Developmental delay and seizures with or without movement abnormalities | 5 | Mar 9, 2023 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | Mar 9, 2023 |
| Developmental delay with or without dysmorphic facies and autism | 6 | Mar 9, 2023 |
| Developmental delay with or without epilepsy | 5 | Sep 26, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 2 | Jan 11, 2022 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 | May 28, 2022 |
| Developmental delay with variable intellectual disability and dysmorphic facies | 1 | Mar 9, 2023 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 5 | Sep 26, 2024 |
| Developmental delay with variable neurologic and brain abnormalities | 1 | May 28, 2022 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Jan 11, 2022 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 1 | Jan 11, 2022 |
| Developmental delay, impaired speech, and behavioral abnormalities | 6 | Mar 9, 2023 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 | Jul 18, 2023 |
| DiGeorge syndrome | 3 | Sep 26, 2024 |
| Diabetes insipidus, nephrogenic, X-linked | 2 | May 28, 2022 |
| Diabetes insipidus, nephrogenic, autosomal | 4 | Jul 18, 2023 |
| Diabetes mellitus, transient neonatal, 2 | 1 | Mar 25, 2022 |
| Diamond-Blackfan anemia 1 | 3 | Mar 9, 2023 |
| Diamond-Blackfan anemia 6 | 4 | Sep 4, 2022 |
| Diamond-Blackfan anemia 7 | 2 | Mar 9, 2023 |
| Diaphanospondylodysostosis | 1 | Sep 26, 2024 |
| Diets-Jongmans syndrome | 1 | Mar 9, 2023 |
| Dihydropyrimidinase deficiency | 2 | Jan 11, 2022 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Jan 11, 2022 |
| Dilated cardiomyopathy 1A | 3 | Mar 9, 2023 |
| Dilated cardiomyopathy 1AA | 2 | Jul 15, 2024 |
| Dilated cardiomyopathy 1D | 1 | Mar 25, 2022 |
| Dilated cardiomyopathy 1DD | 1 | Mar 25, 2022 |
| Dilated cardiomyopathy 1G | 7 | Mar 9, 2023 |
| Dilated cardiomyopathy 1KK | 1 | Mar 25, 2022 |
| Dilated cardiomyopathy 1NN | 2 | Sep 26, 2024 |
| Dilated cardiomyopathy 1R | 1 | Mar 25, 2022 |
| Dilated cardiomyopathy 1S | 3 | Jul 18, 2023 |
| Distal arthrogryposis type 5D | 5 | Jul 18, 2023 |
| Distal myopathy with anterior tibial onset | 1 | Sep 4, 2022 |
| Distichiasis-lymphedema syndrome | 2 | May 28, 2022 |
| Dominant beta-thalassemia | 1 | Jan 11, 2022 |
| Donnai-Barrow syndrome | 1 | Mar 25, 2022 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | May 28, 2022 |
| Dubin-Johnson syndrome | 8 | Mar 9, 2023 |
| Duchenne muscular dystrophy | 30 | Aug 2, 2024 |
| Dyggve-Melchior-Clausen syndrome | 2 | May 28, 2022 |
| Dyschromatosis universalis hereditaria 1 | 1 | Mar 9, 2023 |
| Dyskeratosis congenita, X-linked | 3 | Sep 26, 2024 |
| Dyskeratosis congenita, autosomal dominant 2 | 1 | Mar 25, 2022 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Sep 4, 2022 |
| Dyskeratosis congenita, autosomal recessive 5 | 4 | Jan 11, 2022 |
| Dystonia 12 | 2 | Mar 9, 2023 |
| Dystonia 16 | 2 | Mar 9, 2023 |
| Dystonia 28, childhood-onset | 7 | Sep 26, 2024 |
| Dystonia 30 | 2 | Mar 9, 2023 |
| Dystonia 34, myoclonic | 1 | Sep 26, 2024 |
| Dystonia 5 | 5 | Mar 9, 2023 |
| ETS1-related disorder | 1 | Jan 11, 2022 |
| Early-onset Parkinson disease 20 | 2 | Sep 26, 2024 |
| Early-onset generalized limb-onset dystonia | 1 | Nov 5, 2021 |
| Early-onset myopathy with fatal cardiomyopathy | 2 | Jul 18, 2023 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 | Mar 25, 2022 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 | Jan 11, 2022 |
| 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 14, hair/tooth type with or without hypohidrosis | 1 | Sep 4, 2022 |
| Ectopia lentis 1, isolated, autosomal dominant | 3 | Sep 26, 2024 |
| Ectopia lentis 2, isolated, autosomal recessive | 1 | Sep 26, 2024 |
| Ectopia lentis et pupillae | 1 | Sep 26, 2024 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 3 | Mar 9, 2023 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Sep 26, 2024 |
| Ehlers-Danlos syndrome, arthrochalasia type | 2 | Sep 4, 2022 |
| Ehlers-Danlos syndrome, classic type, 1 | 1 | May 28, 2022 |
| Ehlers-Danlos syndrome, musculocontractural type 1 | 1 | Mar 9, 2023 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 | May 28, 2022 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jan 11, 2022 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 1 | Nov 5, 2021 |
| Eichsfeld type congenital muscular dystrophy | 2 | Mar 9, 2023 |
| Eiken syndrome | 2 | Sep 26, 2024 |
| Elliptocytosis 1 | 1 | Mar 9, 2023 |
| Elliptocytosis 3 | 1 | May 28, 2022 |
| Ellis-van Creveld syndrome | 2 | Sep 26, 2024 |
| Encephalopathy due to GLUT1 deficiency | 5 | Sep 4, 2022 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2 | Jul 18, 2023 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 3 | Jan 11, 2022 |
| 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 | 1 | Jan 11, 2022 |
| Epidermodysplasia verruciformis, susceptibility to, 2 | 1 | Mar 9, 2023 |
| Epidermolysis bullosa pruriginosa | 1 | Jan 11, 2022 |
| 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 | 2 | Mar 25, 2022 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 1 | Jul 18, 2023 |
| Epidermolysis bullosa simplex with mottled pigmentation | 1 | Mar 9, 2023 |
| Epidermolysis bullosa simplex, Koebner type | 2 | Jan 11, 2022 |
| Epidermolysis bullosa simplex, Ogna type | 1 | Jul 18, 2023 |
| Epilepsy, early-onset, vitamin B6-dependent | 1 | Mar 9, 2023 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Jan 11, 2022 |
| Epilepsy, familial adult myoclonic, 5 | 1 | Mar 25, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 3 | Mar 9, 2023 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Aug 2, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Mar 25, 2022 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 2 | May 28, 2022 |
| Epilepsy, progressive myoclonic, 11 | 1 | Mar 25, 2022 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Nov 5, 2021 |
| Epiphyseal dysplasia, multiple, 3 | 1 | Sep 4, 2022 |
| Epiphyseal dysplasia, multiple, 6 | 1 | Mar 9, 2023 |
| Episodic ataxia type 1 | 1 | Nov 5, 2021 |
| Episodic ataxia, type 9 | 1 | Jul 18, 2023 |
| Episodic kinesigenic dyskinesia 1 | 2 | Aug 2, 2024 |
| Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis | 1 | Aug 2, 2024 |
| Erythrokeratodermia variabilis et progressiva 4 | 1 | Jul 18, 2023 |
| Ethylmalonic encephalopathy | 1 | Mar 9, 2023 |
| Euthyroid goiter | 2 | May 28, 2022 |
| Exostoses, multiple, type 1 | 6 | Sep 26, 2024 |
| Exudative vitreoretinopathy 1 | 4 | Sep 4, 2022 |
| Exudative vitreoretinopathy 2, X-linked | 1 | Jul 18, 2023 |
| Exudative vitreoretinopathy 4 | 8 | Jul 18, 2023 |
| Exudative vitreoretinopathy 5 | 7 | Sep 4, 2022 |
| FAT1-related disorder | 2 | Jan 11, 2022 |
| FG syndrome 1 | 4 | Aug 2, 2024 |
| FG syndrome 2 | 1 | Nov 7, 2021 |
| FG syndrome 4 | 1 | May 28, 2022 |
| FRYL-related disorder | 1 | Jan 11, 2022 |
| Fabry disease | 26 | Jul 2, 2024 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 2 | May 28, 2022 |
| Facioscapulohumeral muscular dystrophy 4, digenic | 1 | Sep 26, 2024 |
| Factor H deficiency | 1 | Sep 4, 2022 |
| Factor I deficiency | 2 | Sep 4, 2022 |
| Factor V deficiency | 3 | Mar 9, 2023 |
| Factor XIII, A subunit, deficiency of | 2 | Sep 4, 2022 |
| Familial Mediterranean fever | 8 | Mar 9, 2023 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 10 | Sep 4, 2022 |
| Familial adenomatous polyposis 1 | 2 | Sep 26, 2024 |
| Familial cold autoinflammatory syndrome 2 | 1 | May 28, 2022 |
| Familial gestational hyperthyroidism | 1 | Mar 9, 2023 |
| Familial hemophagocytic lymphohistiocytosis 2 | 2 | Sep 4, 2022 |
| Familial hemophagocytic lymphohistiocytosis 3 | 7 | Sep 26, 2024 |
| Familial hemophagocytic lymphohistiocytosis 5 | 2 | Jul 18, 2023 |
| Familial hyperkalemic periodic paralysis | 2 | Jul 18, 2023 |
| Familial hyperprolactinemia | 1 | Mar 25, 2022 |
| Familial hyperthyroidism due to mutations in TSH receptor | 1 | Jul 18, 2023 |
| Familial hypobetalipoproteinemia 1 | 2 | Jul 18, 2023 |
| Familial hypocalciuric hypercalcemia 3 | 1 | Mar 25, 2022 |
| Familial hypokalemia-hypomagnesemia | 12 | Aug 2, 2024 |
| Familial infantile myasthenia | 2 | Aug 2, 2024 |
| Familial isolated deficiency of vitamin E | 1 | Mar 9, 2023 |
| Familial juvenile hyperuricemic nephropathy type 1 | 7 | Aug 2, 2024 |
| Familial meningioma | 1 | Sep 26, 2024 |
| Familial partial lipodystrophy, Dunnigan type | 1 | Mar 9, 2023 |
| Familial renal glucosuria | 1 | Sep 4, 2022 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 3 | Sep 4, 2022 |
| Familial visceral amyloidosis, Ostertag type | 1 | Jan 11, 2022 |
| Fanconi anemia complementation group A | 7 | Mar 9, 2023 |
| Fanconi anemia complementation group B | 1 | Mar 9, 2023 |
| Fanconi anemia complementation group D2 | 1 | Sep 4, 2022 |
| Fanconi anemia complementation group E | 1 | Sep 26, 2024 |
| Fanconi anemia complementation group G | 1 | May 28, 2022 |
| Fanconi anemia complementation group L | 1 | Sep 4, 2022 |
| Fanconi anemia complementation group P | 2 | Sep 26, 2024 |
| Fanconi renotubular syndrome 2 | 2 | Jan 11, 2022 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Mar 9, 2023 |
| Fanconi-Bickel syndrome | 5 | Sep 26, 2024 |
| Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 | Sep 26, 2024 |
| Fatty acyl-CoA reductase 1 deficiency | 1 | Jan 11, 2022 |
| Febrile seizures, familial, 8 | 2 | Mar 25, 2022 |
| Feingold syndrome type 1 | 1 | Sep 4, 2022 |
| 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 | 2 | Nov 7, 2021 |
| Fibromatosis, gingival, 5 | 1 | Sep 26, 2024 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Mar 25, 2022 |
| Fibrosis, neurodegeneration, and cerebral angiomatosis | 1 | Sep 26, 2024 |
| Filippi syndrome | 2 | Sep 26, 2024 |
| Finnish congenital nephrotic syndrome | 14 | Sep 26, 2024 |
| Finnish type amyloidosis | 1 | Apr 16, 2022 |
| Floating-Harbor syndrome | 4 | Mar 9, 2023 |
| Focal segmental glomerulosclerosis 1 | 2 | Jul 18, 2023 |
| Focal segmental glomerulosclerosis 2 | 3 | Jul 18, 2023 |
| Focal segmental glomerulosclerosis 3, susceptibility to | 1 | Sep 4, 2022 |
| Focal segmental glomerulosclerosis 5 | 3 | Jul 18, 2023 |
| Focal segmental glomerulosclerosis 7 | 5 | Apr 21, 2024 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 2 | Sep 26, 2024 |
| Frank-Ter Haar syndrome | 3 | Sep 26, 2024 |
| Fraser syndrome 1 | 5 | Sep 26, 2024 |
| Fraser syndrome 2 | 9 | Sep 26, 2024 |
| Frontometaphyseal dysplasia 2 | 1 | Nov 5, 2021 |
| Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 | Jul 18, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 | May 28, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Sep 4, 2022 |
| Fructose-biphosphatase deficiency | 3 | May 28, 2022 |
| Fucosidosis | 1 | Mar 9, 2023 |
| Fumarase deficiency | 5 | Sep 26, 2024 |
| GAPO syndrome | 1 | Sep 26, 2024 |
| GM1 gangliosidosis type 2 | 2 | Sep 26, 2024 |
| GM1 gangliosidosis type 3 | 3 | Sep 26, 2024 |
| GM3 synthase deficiency | 1 | Mar 9, 2023 |
| GNE myopathy | 3 | Mar 9, 2023 |
| GNPTG-mucolipidosis | 2 | Mar 9, 2023 |
| Gabriele de Vries syndrome | 1 | Aug 2, 2024 |
| Galactosemia 4 | 1 | May 28, 2022 |
| Galactosylceramide beta-galactosidase deficiency | 9 | Mar 9, 2023 |
| Galloway-Mowat syndrome 1 | 3 | Sep 26, 2024 |
| Galloway-Mowat syndrome 6 | 1 | Sep 26, 2024 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Sep 26, 2024 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 1 | Sep 26, 2024 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 1 | Sep 26, 2024 |
| Gaucher disease perinatal lethal | 1 | Sep 26, 2024 |
| Gaucher disease type I | 1 | Sep 26, 2024 |
| Gaucher disease type II | 1 | Sep 26, 2024 |
| Gaucher disease type III | 2 | Sep 26, 2024 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 | Sep 26, 2024 |
| Geleophysic dysplasia 2 | 1 | Sep 26, 2024 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Sep 26, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 6 | Mar 9, 2023 |
| Generalized epilepsy with febrile seizures plus, type 9 | 1 | May 28, 2022 |
| Genitopatellar syndrome | 4 | Sep 26, 2024 |
| Gerstmann-Straussler-Scheinker syndrome | 2 | Sep 4, 2022 |
| Giant axonal neuropathy 1 | 3 | Sep 4, 2022 |
| Gillespie syndrome | 2 | Jul 18, 2023 |
| Glanzmann thrombasthenia 1 | 5 | Mar 9, 2023 |
| Glanzmann thrombasthenia 2 | 3 | Mar 9, 2023 |
| Glaucoma 1, open angle, A | 1 | May 28, 2022 |
| Glaucoma 3, primary congenital, D | 1 | Sep 26, 2024 |
| Glaucoma 3, primary congenital, E | 8 | May 28, 2022 |
| Glaucoma 3A | 5 | May 28, 2022 |
| Global developmental delay | 9 | Nov 7, 2021 |
| Global developmental delay with speech and behavioral abnormalities | 2 | Sep 26, 2024 |
| Glucocorticoid deficiency 2 | 1 | May 28, 2022 |
| Glucocorticoid deficiency 4 | 3 | Sep 4, 2022 |
| Glucocorticoid deficiency with achalasia | 3 | Mar 9, 2023 |
| Glucose-6-phosphate transport defect | 1 | Jan 11, 2022 |
| Glutamate pyruvate transaminase 2 deficiency | 1 | Jul 18, 2023 |
| Glutaric aciduria, type 1 | 5 | Mar 9, 2023 |
| Glycine encephalopathy 1 | 1 | Sep 26, 2024 |
| Glycogen storage disease IXa1 | 4 | Mar 9, 2023 |
| Glycogen storage disease IXb | 3 | May 28, 2022 |
| Glycogen storage disease IXc | 3 | Sep 4, 2022 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 5 | Sep 4, 2022 |
| Glycogen storage disease type III | 13 | Sep 26, 2024 |
| Glycogen storage disease, type II | 8 | May 28, 2022 |
| Glycogen storage disease, type VI | 5 | Sep 4, 2022 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 5 | Mar 9, 2023 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 1 | Mar 25, 2022 |
| Goldberg-Shprintzen syndrome | 1 | May 28, 2022 |
| Gordon syndrome | 2 | Sep 4, 2022 |
| Gorlin syndrome | 6 | Mar 9, 2023 |
| Granulomatous disease, chronic, X-linked | 1 | Mar 9, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 1 | Sep 4, 2022 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 | Sep 26, 2024 |
| Greig cephalopolysyndactyly syndrome | 1 | Sep 4, 2022 |
| Griscelli syndrome type 2 | 1 | Mar 9, 2023 |
| Groenouw corneal dystrophy type I | 1 | Jan 11, 2022 |
| Growth delay due to insulin-like growth factor I resistance | 4 | Mar 9, 2023 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 | Mar 9, 2023 |
| H syndrome | 4 | Sep 26, 2024 |
| Hajdu-Cheney syndrome | 5 | Sep 26, 2024 |
| Hamartoma of hypothalamus | 1 | Jan 11, 2022 |
| Hao-Fountain syndrome | 2 | Mar 25, 2022 |
| Harel-Yoon syndrome | 3 | Sep 26, 2024 |
| Hartsfield-Bixler-Demyer syndrome | 2 | Mar 9, 2023 |
| Hb SS disease | 1 | Jan 11, 2022 |
| Hearing loss, autosomal dominant 37 | 1 | May 28, 2022 |
| Hearing loss, autosomal dominant 76 | 1 | Jan 11, 2022 |
| Hearing loss, autosomal dominant 80 | 2 | Jan 11, 2022 |
| Hearing loss, autosomal dominant 82 | 1 | Sep 4, 2022 |
| Hearing loss, autosomal dominant 84 | 1 | Mar 9, 2023 |
| Hearing loss, autosomal recessive 111 | 3 | Sep 4, 2022 |
| Hearing loss, autosomal recessive 113 | 1 | Sep 4, 2022 |
| Hearing loss, autosomal recessive 117 | 1 | Jan 11, 2022 |
| Hearing loss, autosomal recessive 57 | 1 | Sep 4, 2022 |
| Hearing loss, autosomal recessive 94 | 1 | Sep 26, 2024 |
| Heimler syndrome 1 | 1 | Sep 26, 2024 |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 2 | Jul 18, 2023 |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 | May 28, 2022 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 2 | May 28, 2022 |
| Hengel-Maroofian-Schols syndrome | 1 | May 28, 2022 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 | Nov 22, 2024 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 4 | Sep 26, 2024 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | Mar 9, 2023 |
| Hepatorenocardiac degenerative fibrosis | 1 | Mar 9, 2023 |
| Hereditary antithrombin deficiency | 1 | Jan 11, 2022 |
| Hereditary diffuse leukoencephalopathy with spheroids | 2 | Jan 11, 2022 |
| Hereditary factor IX deficiency disease | 5 | Jul 18, 2023 |
| Hereditary factor VIII deficiency disease | 23 | Mar 9, 2023 |
| Hereditary factor X deficiency disease | 1 | Mar 25, 2022 |
| Hereditary factor XI deficiency disease | 1 | Sep 4, 2022 |
| Hereditary fructosuria | 2 | Mar 9, 2023 |
| Hereditary insensitivity to pain with anhidrosis | 8 | Sep 26, 2024 |
| Hereditary mucoepithelial dysplasia | 1 | Mar 9, 2023 |
| Hereditary pancreatitis | 1 | Jul 18, 2023 |
| Hereditary sensory and autonomic neuropathy type 6 | 4 | Sep 4, 2022 |
| Hereditary sensory and autonomic neuropathy type 7 | 1 | Jan 11, 2022 |
| Hereditary spastic paraplegia 10 | 2 | Jan 11, 2022 |
| Hereditary spastic paraplegia 11 | 6 | Mar 9, 2023 |
| Hereditary spastic paraplegia 15 | 1 | Mar 9, 2023 |
| Hereditary spastic paraplegia 26 | 1 | Mar 25, 2022 |
| Hereditary spastic paraplegia 30 | 3 | Mar 9, 2023 |
| Hereditary spastic paraplegia 35 | 2 | Jul 18, 2023 |
| Hereditary spastic paraplegia 39 | 2 | Sep 4, 2022 |
| Hereditary spastic paraplegia 3A | 3 | Mar 9, 2023 |
| Hereditary spastic paraplegia 4 | 8 | Mar 9, 2023 |
| Hereditary spastic paraplegia 43 | 1 | Jan 11, 2022 |
| Hereditary spastic paraplegia 45 | 1 | Mar 9, 2023 |
| Hereditary spastic paraplegia 46 | 1 | Jul 18, 2023 |
| Hereditary spastic paraplegia 47 | 1 | Mar 25, 2022 |
| Hereditary spastic paraplegia 50 | 4 | Jul 18, 2023 |
| Hereditary spastic paraplegia 54 | 1 | Mar 9, 2023 |
| Hereditary spastic paraplegia 56 | 2 | Nov 7, 2021 |
| Hereditary spastic paraplegia 5A | 2 | Sep 26, 2024 |
| Hereditary spastic paraplegia 7 | 11 | Jul 18, 2023 |
| Hereditary spastic paraplegia 77 | 2 | Sep 4, 2022 |
| Hereditary spastic paraplegia 8 | 1 | Mar 9, 2023 |
| Hereditary spherocytosis type 1 | 6 | Mar 9, 2023 |
| Hereditary spherocytosis type 2 | 5 | Mar 9, 2023 |
| Hereditary spherocytosis type 3 | 2 | May 28, 2022 |
| Hereditary spherocytosis type 4 | 1 | Sep 4, 2022 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 | Sep 26, 2024 |
| Hereditary xanthinuria type 1 | 2 | Mar 9, 2023 |
| Hermansky-Pudlak syndrome 1 | 1 | Jul 18, 2023 |
| Hermansky-Pudlak syndrome 2 | 1 | Sep 26, 2024 |
| Hermansky-Pudlak syndrome 3 | 2 | Mar 25, 2022 |
| Heterotopia, periventricular, X-linked dominant | 1 | May 28, 2022 |
| Heyn-Sproul-Jackson syndrome | 1 | Mar 9, 2023 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 3 | Mar 9, 2023 |
| Hidrotic ectodermal dysplasia syndrome | 1 | Jul 18, 2023 |
| Histidinemia | 1 | Mar 9, 2023 |
| Histiocytic medullary reticulosis | 5 | Sep 4, 2022 |
| Hogue-Janssens syndrome 1 | 4 | Nov 22, 2024 |
| Holoprosencephaly 13, X-linked | 1 | Sep 26, 2024 |
| Holoprosencephaly 5 | 2 | Sep 26, 2024 |
| Holoprosencephaly 7 | 1 | Jul 18, 2023 |
| Holoprosencephaly 9 | 1 | Sep 4, 2022 |
| Holt-Oram syndrome | 2 | Mar 9, 2023 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 5 | Mar 9, 2023 |
| Houge-Janssens syndrome 2 | 2 | Jan 11, 2022 |
| Houge-Janssens syndrome 3 | 1 | Sep 4, 2022 |
| Huntington disease | 1 | May 28, 2022 |
| Huntington disease-like 1 | 1 | Jan 11, 2022 |
| Hurler syndrome | 3 | May 28, 2022 |
| Hutchinson-Gilford syndrome | 1 | Sep 4, 2022 |
| Hyaline fibromatosis syndrome | 1 | Jan 11, 2022 |
| Hydrocephalus, congenital, 3, with brain anomalies | 1 | Sep 26, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 | Sep 26, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 | Sep 26, 2024 |
| Hydrolethalus syndrome 2 | 1 | Sep 26, 2024 |
| Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 1 | Sep 26, 2024 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 4 | Sep 4, 2022 |
| Hyper-IgM syndrome type 1 | 2 | Jul 18, 2023 |
| 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 |
| Hypercalcemia, infantile, 1 | 1 | Jan 11, 2022 |
| Hypercalcemia, infantile, 2 | 2 | Mar 9, 2023 |
| Hypercholanemia, familial 1 | 2 | Sep 26, 2024 |
| Hypercholanemia, familial, 2 | 3 | Mar 9, 2023 |
| Hypercholesterolemia, autosomal dominant, 3 | 1 | Jul 18, 2023 |
| Hypercholesterolemia, familial, 1 | 13 | Sep 26, 2024 |
| Hyperekplexia 1 | 1 | May 28, 2022 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 10 | Jul 18, 2023 |
| Hyperlipidemia, familial combined, LPL related | 1 | Jan 11, 2022 |
| Hyperlipoproteinemia, type 1D | 4 | Aug 2, 2024 |
| Hyperlipoproteinemia, type I | 5 | Jul 18, 2023 |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 | Sep 4, 2022 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 4 | Sep 4, 2022 |
| Hyperprolinemia type 2 | 3 | Sep 26, 2024 |
| Hyperthyroxinemia, familial dysalbuminemic | 1 | Jul 18, 2023 |
| Hypertrophic cardiomyopathy 1 | 37 | Aug 2, 2024 |
| Hypertrophic cardiomyopathy 10 | 2 | May 28, 2022 |
| Hypertrophic cardiomyopathy 11 | 2 | Sep 4, 2022 |
| Hypertrophic cardiomyopathy 12 | 1 | Jan 11, 2022 |
| Hypertrophic cardiomyopathy 13 | 3 | Mar 9, 2023 |
| Hypertrophic cardiomyopathy 14 | 1 | Mar 9, 2023 |
| Hypertrophic cardiomyopathy 2 | 5 | Mar 9, 2023 |
| Hypertrophic cardiomyopathy 26 | 3 | Mar 9, 2023 |
| Hypertrophic cardiomyopathy 3 | 3 | Mar 9, 2023 |
| Hypertrophic cardiomyopathy 4 | 48 | Mar 9, 2023 |
| Hypertrophic cardiomyopathy 7 | 8 | Jul 18, 2023 |
| Hypertrophic cardiomyopathy 8 | 3 | Jan 11, 2022 |
| Hypertrophic cardiomyopathy 9 | 1 | May 28, 2022 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | 2 | Sep 26, 2024 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 4 | Sep 26, 2024 |
| Hypoalphalipoproteinemia, primary, 2 | 1 | May 28, 2022 |
| Hypochondroplasia | 5 | Mar 9, 2023 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | Sep 4, 2022 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 | May 28, 2022 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 3 | May 28, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | May 28, 2022 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 7 | Sep 26, 2024 |
| Hypohidrotic X-linked ectodermal dysplasia | 6 | Mar 9, 2023 |
| Hypokalemic periodic paralysis, type 1 | 1 | Jan 18, 2024 |
| Hypokalemic periodic paralysis, type 2 | 1 | Jan 11, 2022 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 1 | May 28, 2022 |
| Hypomyelinating leukodystrophy 10 | 2 | Mar 9, 2023 |
| Hypomyelinating leukodystrophy 11 | 1 | Sep 26, 2024 |
| Hypomyelinating leukodystrophy 12 | 1 | Jul 18, 2023 |
| Hypomyelinating leukodystrophy 2 | 2 | Sep 4, 2022 |
| Hypomyelinating leukodystrophy 3 | 1 | May 28, 2022 |
| Hypomyelinating leukodystrophy 4 | 1 | Sep 4, 2022 |
| Hypomyelinating leukodystrophy 6 | 3 | Mar 9, 2023 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 | Sep 4, 2022 |
| Hypomyelinating leukodystrophy 9 | 3 | Mar 9, 2023 |
| Hypomyelination and Congenital Cataract | 1 | Jan 11, 2022 |
| Hypoparathyroidism, deafness, renal disease syndrome | 3 | Mar 9, 2023 |
| Hypoparathyroidism, familial isolated, 2 | 2 | Mar 9, 2023 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 | May 28, 2022 |
| Hypophosphatemic rickets, autosomal recessive, 1 | 1 | Sep 26, 2024 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 1 | May 28, 2022 |
| Hypothyroidism due to TSH receptor mutations | 1 | May 28, 2022 |
| Hypothyroidism, congenital, nongoitrous, 5 | 1 | Nov 5, 2021 |
| Hypotonia, ataxia, and delayed development syndrome | 4 | Mar 25, 2022 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 1 | Jan 11, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 | Sep 4, 2022 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | Sep 26, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | May 28, 2022 |
| Hypotrichosis 11 | 1 | Jul 18, 2023 |
| Hypotrichosis 7 | 1 | Mar 25, 2022 |
| IFAP syndrome 1, with or without BRESHECK syndrome | 1 | Jan 11, 2022 |
| Ichthyosis vulgaris | 6 | Jul 18, 2023 |
| Idiopathic basal ganglia calcification 1 | 1 | Sep 4, 2022 |
| Imagawa-Matsumoto syndrome | 3 | Sep 26, 2024 |
| Imerslund-Grasbeck syndrome type 2 | 2 | Sep 4, 2022 |
| Immunodeficiency 104 | 1 | Mar 9, 2023 |
| Immunodeficiency 14 | 1 | Mar 25, 2022 |
| Immunodeficiency 27A | 1 | Mar 25, 2022 |
| Immunodeficiency 33 | 1 | Jan 11, 2022 |
| Immunodeficiency 36 | 1 | May 28, 2022 |
| Immunodeficiency 45 | 1 | Sep 26, 2024 |
| Immunodeficiency 47 | 3 | Sep 26, 2024 |
| Immunodeficiency 49 | 4 | Sep 26, 2024 |
| Immunodeficiency 57 | 2 | Jul 18, 2023 |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 1 | Jan 11, 2022 |
| Immunodeficiency 76 | 1 | Sep 26, 2024 |
| Immunodeficiency 81 | 2 | Jan 11, 2022 |
| Immunodeficiency 82 with systemic inflammation | 1 | May 28, 2022 |
| Immunodeficiency 95 | 1 | May 28, 2022 |
| Immunodeficiency, common variable, 10 | 1 | Mar 9, 2023 |
| Immunodeficiency, common variable, 2 | 4 | Jul 18, 2023 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 1 | Sep 26, 2024 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Mar 25, 2022 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Sep 4, 2022 |
| Inclusion body myopathy and brain white matter abnormalities | 1 | Mar 9, 2023 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 1 | Jan 11, 2022 |
| Infantile GM1 gangliosidosis | 1 | Sep 26, 2024 |
| Infantile cerebellar-retinal degeneration | 2 | Nov 7, 2021 |
| Infantile convulsions and choreoathetosis | 1 | Aug 2, 2024 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 3 | Sep 4, 2022 |
| Infantile liver failure syndrome 1 | 1 | Sep 26, 2024 |
| Infantile liver failure syndrome 2 | 2 | May 28, 2022 |
| Infantile nephronophthisis | 1 | Sep 26, 2024 |
| Infantile neuroaxonal dystrophy | 9 | Mar 9, 2023 |
| Infantile onset spinocerebellar ataxia | 3 | Sep 26, 2024 |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 | Sep 4, 2022 |
| Intellectual developmental disorder 59 | 2 | May 28, 2022 |
| Intellectual developmental disorder 60 with seizures | 1 | Nov 5, 2021 |
| Intellectual developmental disorder 61 | 2 | Mar 9, 2023 |
| Intellectual developmental disorder 62 | 3 | Mar 9, 2023 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 | Sep 26, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 2 | Jul 18, 2023 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 2 | Sep 26, 2024 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 3 | Mar 25, 2022 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Nov 7, 2021 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 3 | Mar 9, 2023 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 2 | Jan 11, 2022 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 | Jan 11, 2022 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 2 | Sep 4, 2022 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 2 | Mar 9, 2023 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 3 | Jan 11, 2022 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Nov 7, 2021 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 1 | Jul 18, 2023 |
| Intellectual developmental disorder with seizures and language delay | 4 | Sep 4, 2022 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Sep 4, 2022 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 3 | Jul 18, 2023 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 3 | Sep 26, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 2 | Sep 4, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 6 | Mar 9, 2023 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 3 | Jul 18, 2023 |
| Intellectual developmental disorder, autosomal dominant 64 | 5 | Jul 18, 2023 |
| Intellectual developmental disorder, autosomal dominant 66 | 1 | Mar 9, 2023 |
| Intellectual developmental disorder, autosomal dominant 67 | 1 | Mar 9, 2023 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 | Sep 26, 2024 |
| Intellectual developmental disorder, autosomal dominant 70 | 1 | Sep 26, 2024 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Jan 11, 2022 |
| Intellectual developmental disorder, autosomal recessive 68 | 1 | Sep 4, 2022 |
| Intellectual developmental disorder, autosomal recessive 71 | 1 | Nov 5, 2021 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 1 | Sep 26, 2024 |
| Intellectual developmental disorder, autosomal recessive 77 | 3 | Sep 26, 2024 |
| Intellectual disability and myopathy syndrome | 1 | Sep 4, 2022 |
| Intellectual disability, X-linked 1 | 3 | Mar 9, 2023 |
| Intellectual disability, X-linked 102 | 8 | Jul 18, 2023 |
| Intellectual disability, X-linked 104 | 2 | Mar 9, 2023 |
| Intellectual disability, X-linked 21 | 1 | Nov 5, 2021 |
| Intellectual disability, X-linked 41 | 3 | Sep 26, 2024 |
| Intellectual disability, X-linked 49 | 6 | Sep 26, 2024 |
| Intellectual disability, X-linked 61 | 3 | Sep 26, 2024 |
| Intellectual disability, X-linked 96 | 1 | Sep 4, 2022 |
| Intellectual disability, X-linked 99 | 2 | Sep 26, 2024 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 3 | Sep 26, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 7 | Sep 26, 2024 |
| Intellectual disability, X-linked, syndromic 33 | 1 | Jul 18, 2023 |
| Intellectual disability, X-linked, syndromic, Houge type | 3 | Sep 26, 2024 |
| Intellectual disability, autosomal dominant 1 | 1 | Sep 4, 2022 |
| Intellectual disability, autosomal dominant 13 | 6 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 14 | 2 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 15 | 2 | May 28, 2022 |
| Intellectual disability, autosomal dominant 16 | 4 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 20 | 3 | Sep 4, 2022 |
| Intellectual disability, autosomal dominant 22 | 2 | May 28, 2022 |
| Intellectual disability, autosomal dominant 24 | 1 | May 28, 2022 |
| Intellectual disability, autosomal dominant 27 | 2 | Aug 2, 2024 |
| Intellectual disability, autosomal dominant 29 | 4 | Sep 26, 2024 |
| Intellectual disability, autosomal dominant 30 | 5 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 38 | 2 | Jan 11, 2022 |
| Intellectual disability, autosomal dominant 39 | 1 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 40 | 3 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 41 | 2 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 42 | 6 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 43 | 2 | Sep 26, 2024 |
| Intellectual disability, autosomal dominant 45 | 1 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 46 | 1 | Nov 7, 2021 |
| Intellectual disability, autosomal dominant 47 | 2 | Sep 26, 2024 |
| Intellectual disability, autosomal dominant 48 | 1 | Jan 11, 2022 |
| Intellectual disability, autosomal dominant 5 | 10 | Sep 26, 2024 |
| Intellectual disability, autosomal dominant 50 | 5 | Sep 4, 2022 |
| Intellectual disability, autosomal dominant 52 | 2 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 54 | 4 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 56 | 6 | Sep 26, 2024 |
| Intellectual disability, autosomal dominant 57 | 5 | Jul 18, 2023 |
| Intellectual disability, autosomal dominant 6 | 3 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 8 | 3 | Mar 9, 2023 |
| Intellectual disability, autosomal dominant 9 | 5 | May 28, 2022 |
| Intellectual disability, autosomal recessive 12 | 2 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 13 | 1 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 18 | 2 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 27 | 1 | Jan 11, 2022 |
| Intellectual disability, autosomal recessive 3 | 1 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 44 | 1 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 47 | 1 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 5 | 1 | Sep 4, 2022 |
| Intellectual disability, autosomal recessive 53 | 1 | Mar 9, 2023 |
| Intellectual disability, autosomal recessive 57 | 3 | Mar 25, 2022 |
| Intellectual disability, autosomal recessive 61 | 3 | Sep 26, 2024 |
| Intellectual disability, autosomal recessive 65 | 1 | Mar 9, 2023 |
| Intellectual disability, autosomal recessive 66 | 1 | Jan 11, 2022 |
| Intellectual disability, autosomal recessive 7 | 1 | Jan 11, 2022 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 2 | Mar 9, 2023 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 2 | Sep 26, 2024 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 4 | Sep 26, 2024 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 11 | Sep 26, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 6 | Mar 9, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 6 | Mar 9, 2023 |
| Interstitial lung disease 1 | 1 | Sep 4, 2022 |
| Intestinal hypomagnesemia 1 | 6 | Sep 26, 2024 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 2 | Jan 11, 2022 |
| Iodotyrosyl coupling defect | 1 | Jan 11, 2022 |
| Irido-corneo-trabecular dysgenesis | 1 | Mar 9, 2023 |
| Isolated congenital digital clubbing | 1 | Sep 26, 2024 |
| Isolated cryptophthalmia | 8 | Sep 26, 2024 |
| Isolated focal cortical dysplasia type II | 7 | Sep 26, 2024 |
| Isolated growth hormone deficiency, type 4 | 1 | Jan 11, 2022 |
| Isolated microphthalmia 2 | 1 | Sep 26, 2024 |
| Isolated microphthalmia 5 | 1 | Jan 11, 2022 |
| Isolated microphthalmia 6 | 3 | Jan 11, 2022 |
| Isolated microphthalmia 8 | 1 | Jan 11, 2022 |
| Isolated neonatal sclerosing cholangitis | 2 | Sep 4, 2022 |
| Isolated thyroid-stimulating hormone deficiency | 1 | May 28, 2022 |
| Isovaleryl-CoA dehydrogenase deficiency | 2 | Sep 4, 2022 |
| Jaberi-Elahi syndrome | 1 | Jan 11, 2022 |
| Jalili syndrome | 1 | Jan 11, 2022 |
| Jawad syndrome | 3 | Sep 26, 2024 |
| Jervell and Lange-Nielsen syndrome 1 | 2 | Jan 11, 2022 |
| Joint laxity, short stature, and myopia | 2 | May 28, 2022 |
| Joubert syndrome 10 | 1 | Mar 9, 2023 |
| Joubert syndrome 14 | 1 | Jan 11, 2022 |
| Joubert syndrome 17 | 2 | Sep 26, 2024 |
| Joubert syndrome 21 | 5 | Sep 26, 2024 |
| Joubert syndrome 24 | 1 | Sep 26, 2024 |
| Joubert syndrome 25 | 3 | Sep 26, 2024 |
| Joubert syndrome 28 | 1 | May 28, 2022 |
| Joubert syndrome 3 | 3 | Mar 9, 2023 |
| Joubert syndrome 33 | 2 | May 28, 2022 |
| Joubert syndrome 5 | 1 | Jan 11, 2022 |
| Joubert syndrome 6 | 1 | Jul 18, 2023 |
| Joubert syndrome 9 | 4 | Jan 11, 2022 |
| Juberg-Hayward syndrome | 1 | Sep 26, 2024 |
| Junctional epidermolysis bullosa gravis of Herlitz | 1 | Sep 4, 2022 |
| Junctional epidermolysis bullosa, non-Herlitz type | 4 | Sep 4, 2022 |
| Juvenile polyposis syndrome | 1 | May 28, 2022 |
| Juvenile retinoschisis | 10 | Mar 9, 2023 |
| KBG syndrome | 22 | Sep 26, 2024 |
| KINSSHIP syndrome | 1 | Mar 9, 2023 |
| Kabuki syndrome 1 | 29 | Jul 18, 2023 |
| Kabuki syndrome 2 | 2 | Mar 9, 2023 |
| Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 | Sep 4, 2022 |
| Kilquist syndrome | 3 | Sep 26, 2024 |
| Kindler syndrome | 3 | Sep 26, 2024 |
| King Denborough syndrome | 1 | Mar 9, 2023 |
| Kleefstra syndrome 1 | 4 | Sep 4, 2022 |
| Kleefstra syndrome 2 | 8 | Sep 26, 2024 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 2 | Nov 5, 2021 |
| Knobloch syndrome 1 | 3 | Sep 26, 2024 |
| Kohlschutter-Tonz syndrome-like | 2 | Jan 11, 2022 |
| Koolen-de Vries syndrome | 4 | Aug 2, 2024 |
| Kostmann syndrome | 2 | Sep 26, 2024 |
| Kufor-Rakeb syndrome | 2 | Sep 26, 2024 |
| LAMB2-related infantile-onset nephrotic syndrome | 6 | Sep 26, 2024 |
| LEOPARD syndrome 1 | 2 | Jul 18, 2023 |
| LEOPARD syndrome 2 | 1 | Sep 26, 2024 |
| LMBRD2-related disorder | 1 | Mar 25, 2022 |
| Lamb-Shaffer syndrome | 1 | Mar 9, 2023 |
| Landau-Kleffner syndrome | 8 | Sep 26, 2024 |
| Laron-type isolated somatotropin defect | 3 | Sep 26, 2024 |
| Larsen syndrome | 2 | Mar 9, 2023 |
| Larsen-like syndrome, B3GAT3 type | 1 | Mar 25, 2022 |
| Laryngo-onycho-cutaneous syndrome | 1 | Mar 25, 2022 |
| Lathosterolosis | 1 | Jan 11, 2022 |
| Lattice corneal dystrophy Type I | 1 | Jan 11, 2022 |
| Leber congenital amaurosis 1 | 5 | Sep 4, 2022 |
| Leber congenital amaurosis 10 | 2 | May 28, 2022 |
| Leber congenital amaurosis 13 | 6 | Jul 18, 2023 |
| Leber congenital amaurosis 14 | 1 | May 28, 2022 |
| Leber congenital amaurosis 15 | 1 | Mar 25, 2022 |
| Leber congenital amaurosis 2 | 5 | Aug 1, 2024 |
| Leber congenital amaurosis 3 | 1 | Sep 26, 2024 |
| Leber congenital amaurosis 4 | 7 | Mar 9, 2023 |
| Leber congenital amaurosis 6 | 1 | May 28, 2022 |
| Leber congenital amaurosis 8 | 5 | Aug 2, 2024 |
| Leber congenital amaurosis 9 | 1 | Jan 11, 2022 |
| Leber hereditary optic neuropathy, autosomal recessive | 1 | Sep 4, 2022 |
| Leber-like hereditary optic neuropathy, autosomal recessive 2 | 1 | Sep 26, 2024 |
| Legius syndrome | 3 | Jul 18, 2023 |
| Leigh syndrome | 4 | Nov 5, 2021 |
| Leri-Weill dyschondrosteosis | 2 | Jan 11, 2022 |
| Lesch-Nyhan syndrome | 1 | Nov 5, 2021 |
| Lessel-Kreienkamp syndrome | 3 | Sep 26, 2024 |
| Lethal Kniest-like syndrome | 3 | Sep 26, 2024 |
| Lethal arthrogryposis-anterior horn cell disease syndrome | 2 | Sep 26, 2024 |
| 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 | 6 | Sep 26, 2024 |
| 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 | 1 | May 28, 2022 |
| Leukocyte adhesion deficiency type II | 1 | Sep 26, 2024 |
| Leukodystrophy, hypomyelinating, 15 | 1 | Sep 26, 2024 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Mar 9, 2023 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 | Mar 9, 2023 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 1 | Jan 11, 2022 |
| Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 6 | Jul 18, 2023 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 3 | Mar 9, 2023 |
| Li-Fraumeni syndrome 1 | 3 | Mar 9, 2023 |
| Liang-Wang syndrome | 3 | Mar 9, 2023 |
| Linear nevus sebaceous syndrome | 1 | Mar 25, 2022 |
| Linear skin defects with multiple congenital anomalies 2 | 1 | Sep 26, 2024 |
| Lipid proteinosis | 2 | May 28, 2022 |
| Lipoic acid synthetase deficiency | 1 | Sep 26, 2024 |
| Lipoprotein glomerulopathy | 3 | Jul 18, 2023 |
| Lissencephaly 10 | 1 | Mar 9, 2023 |
| Lissencephaly due to LIS1 mutation | 4 | Mar 25, 2022 |
| Lissencephaly due to TUBA1A mutation | 2 | Jul 18, 2023 |
| Lissencephaly type 1 due to doublecortin gene mutation | 4 | Sep 4, 2022 |
| Loeys-Dietz syndrome 1 | 2 | Jan 11, 2022 |
| Loeys-Dietz syndrome 2 | 2 | Mar 9, 2023 |
| Loeys-Dietz syndrome 4 | 3 | Jul 18, 2023 |
| Long QT syndrome 1 | 4 | Mar 9, 2023 |
| Long QT syndrome 2 | 1 | Mar 25, 2022 |
| Long QT syndrome 3 | 1 | Sep 4, 2022 |
| Long QT syndrome 5 | 1 | Sep 4, 2022 |
| Long qt syndrome 8 | 1 | May 28, 2022 |
| Lowe syndrome | 5 | Sep 26, 2024 |
| Lower motor neuron syndrome with late-adult onset | 1 | Mar 9, 2023 |
| Luo-Schoch-Yamamoto syndrome | 1 | Sep 5, 2023 |
| Luscan-Lumish syndrome | 3 | Sep 26, 2024 |
| Lymphangiomyomatosis | 2 | Sep 26, 2024 |
| Lymphatic malformation 6 | 1 | Mar 9, 2023 |
| Lymphoma, non-Hodgkin, familial | 1 | Jul 18, 2023 |
| Lysinuric protein intolerance | 1 | Nov 5, 2021 |
| Lysosomal acid lipase deficiency | 1 | Mar 9, 2023 |
| MASS syndrome | 1 | Sep 26, 2024 |
| MEGF8-related Carpenter syndrome | 1 | Sep 26, 2024 |
| MELAS syndrome | 1 | Jul 18, 2023 |
| MEND syndrome | 1 | Mar 25, 2022 |
| MHC class I deficiency | 1 | Jul 18, 2023 |
| MHC class II deficiency | 2 | Mar 9, 2023 |
| MOGS-congenital disorder of glycosylation | 3 | Sep 26, 2024 |
| MORM syndrome | 1 | Jan 11, 2022 |
| MPDU1-congenital disorder of glycosylation | 1 | Jan 11, 2022 |
| MPI-congenital disorder of glycosylation | 2 | Sep 4, 2022 |
| MTSS2-related disorder | 1 | Mar 9, 2023 |
| MYH7-related skeletal myopathy | 1 | Mar 25, 2022 |
| Macrocephaly, acquired, with impaired intellectual development | 2 | Jan 11, 2022 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 4 | Sep 26, 2024 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 1 | Mar 9, 2023 |
| Macrocephaly-autism syndrome | 5 | Mar 9, 2023 |
| Macrocephaly-developmental delay syndrome | 1 | Sep 26, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 5 | Sep 26, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 6 | Mar 9, 2023 |
| Macular degeneration, X-linked atrophic | 1 | Jan 11, 2022 |
| Macular degeneration, early-onset | 1 | Sep 26, 2024 |
| Malan overgrowth syndrome | 3 | Mar 9, 2023 |
| Maleylacetoacetate isomerase deficiency | 1 | Mar 9, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 3 | Jul 18, 2023 |
| Maple syrup urine disease | 2 | Sep 4, 2022 |
| Maple syrup urine disease type 1A | 1 | Sep 26, 2024 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | Mar 25, 2022 |
| Marfan syndrome | 27 | Sep 26, 2024 |
| Marinesco-Sjögren syndrome | 1 | Mar 9, 2023 |
| Marshall syndrome | 2 | Jul 18, 2023 |
| Marshall-Smith syndrome | 1 | Nov 5, 2021 |
| Martsolf syndrome 2 | 1 | Sep 4, 2022 |
| Maturity-onset diabetes of the young type 1 | 1 | Jan 11, 2022 |
| Maturity-onset diabetes of the young type 13 | 1 | Mar 25, 2022 |
| Maturity-onset diabetes of the young type 2 | 8 | Mar 9, 2023 |
| Maturity-onset diabetes of the young type 3 | 3 | Mar 25, 2022 |
| Maturity-onset diabetes of the young type 7 | 1 | Jul 2, 2024 |
| McKusick-Kaufman syndrome | 1 | Sep 26, 2024 |
| Meckel syndrome, type 1 | 2 | Mar 9, 2023 |
| Meckel syndrome, type 3 | 1 | Mar 9, 2023 |
| Meckel syndrome, type 4 | 2 | Jan 11, 2022 |
| Meckel syndrome, type 6 | 1 | Jan 11, 2022 |
| Meckel syndrome, type 8 | 1 | Sep 26, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 | Jan 11, 2022 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 1 | Nov 5, 2021 |
| Megaconial type congenital muscular dystrophy | 1 | Jan 11, 2022 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 | Sep 26, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 1 | Sep 26, 2024 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 | Jul 18, 2023 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 5 | Sep 26, 2024 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 9 | Mar 9, 2023 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 3 | Sep 4, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 2 | Nov 5, 2021 |
| Meier-Gorlin syndrome 1 | 1 | Sep 26, 2024 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 3 | Sep 4, 2022 |
| Menke-Hennekam syndrome 1 | 1 | Jul 18, 2023 |
| Menke-Hennekam syndrome 2 | 3 | Sep 26, 2024 |
| Menkes kinky-hair syndrome | 9 | Sep 26, 2024 |
| Merosin deficient congenital muscular dystrophy | 11 | Jul 18, 2023 |
| Metachromatic leukodystrophy | 9 | Sep 26, 2024 |
| Metaphyseal chondrodysplasia, McKusick type | 4 | Sep 4, 2022 |
| Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | 1 | May 28, 2022 |
| Methemoglobinemia, alpha type | 1 | Jul 18, 2023 |
| Methylcobalamin deficiency type cblE | 2 | Mar 9, 2023 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | May 28, 2022 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 4 | Mar 9, 2023 |
| Methylmalonic aciduria, cblA type | 1 | Sep 26, 2024 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 3 | Jul 18, 2023 |
| Microcephalic osteodysplastic primordial dwarfism type II | 4 | Sep 26, 2024 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 3 | Sep 26, 2024 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 | Sep 26, 2024 |
| Microcephalic primordial dwarfism, Alazami type | 2 | Sep 26, 2024 |
| Microcephaly 1, primary, autosomal recessive | 5 | Sep 26, 2024 |
| Microcephaly 17, primary, autosomal recessive | 1 | Jan 11, 2022 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 5 | Sep 26, 2024 |
| Microcephaly 26, primary, autosomal dominant | 1 | Mar 9, 2023 |
| Microcephaly 4, primary, autosomal recessive | 3 | Sep 26, 2024 |
| Microcephaly 5, primary, autosomal recessive | 13 | Sep 26, 2024 |
| 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 with or without chorioretinopathy, lymphedema, or intellectual disability | 8 | Jul 18, 2023 |
| Microcephaly, developmental delay, and brittle hair syndrome | 2 | Jan 11, 2022 |
| 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 | 1 | Sep 4, 2022 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 1 | Mar 9, 2023 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 1 | May 28, 2022 |
| Microcephaly-capillary malformation syndrome | 1 | Jan 11, 2022 |
| Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 3 | Sep 26, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 3 | May 28, 2022 |
| Microphthalmia, isolated, with coloboma 3 | 1 | Sep 26, 2024 |
| Microphthalmia, syndromic 12 | 1 | Sep 4, 2022 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2 | Sep 26, 2024 |
| Migraine, familial hemiplegic, 1 | 1 | Mar 25, 2022 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Jan 11, 2022 |
| Mitochondrial DNA depletion syndrome 1 | 1 | Sep 4, 2022 |
| Mitochondrial DNA depletion syndrome 13 | 3 | Jul 18, 2023 |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 | May 28, 2022 |
| Mitochondrial DNA depletion syndrome 18 | 1 | May 28, 2022 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Jul 18, 2023 |
| Mitochondrial DNA depletion syndrome 4b | 1 | Jan 11, 2022 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2 | Mar 25, 2022 |
| Mitochondrial DNA depletion syndrome 8a | 1 | Sep 4, 2022 |
| Mitochondrial DNA depletion syndrome 9 | 3 | Sep 26, 2024 |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 2 | Mar 9, 2023 |
| Mitochondrial DNA depletion syndrome, myopathic form | 2 | Mar 9, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 16 | 1 | Sep 26, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 17 | 3 | Mar 9, 2023 |
| Mitochondrial complex 1 deficiency, nuclear type 2 | 1 | Sep 26, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 21 | 1 | Sep 26, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 4 | Sep 26, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 5 | 1 | Sep 4, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 6 | 1 | Sep 26, 2024 |
| Mitochondrial complex 1 deficiency, nuclear type 7 | 1 | Sep 4, 2022 |
| Mitochondrial complex 1 deficiency, nuclear type 9 | 1 | Sep 26, 2024 |
| Mitochondrial complex 4 deficiency, nuclear type 11 | 2 | Aug 2, 2024 |
| Mitochondrial complex 4 deficiency, nuclear type 17 | 2 | Jan 11, 2022 |
| Mitochondrial complex 4 deficiency, nuclear type 21 | 1 | Mar 9, 2023 |
| Mitochondrial complex 4 deficiency, nuclear type 8 | 1 | Jan 11, 2022 |
| Mitochondrial complex II deficiency, nuclear type 1 | 2 | Mar 9, 2023 |
| 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 | 3 | Mar 9, 2023 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 | Sep 26, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | May 28, 2022 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 4 | Jul 18, 2023 |
| Mitochondrial myopathy-lactic acidosis-deafness syndrome | 1 | Sep 26, 2024 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 3 | Sep 4, 2022 |
| Mitochondrial trifunctional protein deficiency | 1 | Jul 18, 2023 |
| Miyoshi muscular dystrophy 1 | 1 | Jan 11, 2022 |
| Miyoshi muscular dystrophy 3 | 1 | Jul 18, 2023 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 1 | Jan 11, 2022 |
| Mosaic variegated aneuploidy syndrome 1 | 2 | Nov 5, 2021 |
| Mowat-Wilson syndrome | 13 | Sep 26, 2024 |
| Moyamoya disease 2 | 2 | Mar 9, 2023 |
| Mucocutaneous ulceration, chronic | 1 | May 28, 2022 |
| Mucolipidosis type II | 3 | Sep 4, 2022 |
| Mucopolysaccharidosis type 6 | 3 | Sep 26, 2024 |
| Mucopolysaccharidosis type 7 | 2 | Sep 26, 2024 |
| Mucopolysaccharidosis, MPS-II | 1 | Sep 26, 2024 |
| Mucopolysaccharidosis, MPS-III-B | 4 | Sep 26, 2024 |
| Mucopolysaccharidosis, MPS-III-D | 4 | Sep 26, 2024 |
| Mucopolysaccharidosis, MPS-IV-A | 8 | May 28, 2022 |
| Mucopolysaccharidosis, MPS-IV-B | 1 | Sep 26, 2024 |
| Muenke syndrome | 1 | Sep 4, 2022 |
| Mulibrey nanism syndrome | 1 | Sep 4, 2022 |
| Mullegama-Klein-Martinez syndrome | 1 | Sep 26, 2024 |
| Multicentric osteolysis, nodulosis, and arthropathy | 1 | Sep 26, 2024 |
| Multiple acyl-CoA dehydrogenase deficiency | 7 | Mar 9, 2023 |
| Multiple benign circumferential skin creases on limbs 1 | 1 | Mar 9, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2 | Sep 26, 2024 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 1 | Nov 5, 2021 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 3 | Nov 5, 2021 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 1 | Mar 9, 2023 |
| Multiple endocrine neoplasia type 4 | 1 | Jan 11, 2022 |
| Multiple epiphyseal dysplasia, Al-Gazali type | 1 | Sep 26, 2024 |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 | Mar 9, 2023 |
| Multiple mitochondrial dysfunctions syndrome 3 | 1 | May 28, 2022 |
| Multiple sulfatase deficiency | 1 | Sep 4, 2022 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | Mar 9, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 2 | May 28, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Jan 11, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | May 28, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 | Jan 11, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 | Jan 11, 2022 |
| Myasthenic syndrome, congenital, 1B, fast-channel | 1 | Sep 26, 2024 |
| Myasthenic syndrome, congenital, 22 | 1 | Nov 5, 2021 |
| Myelodysplastic syndrome | 1 | Sep 4, 2022 |
| Myhre syndrome | 3 | Jan 11, 2022 |
| Myoclonic dystonia 11 | 4 | Jul 18, 2023 |
| Myoclonic-astatic epilepsy | 4 | Mar 9, 2023 |
| Myoclonic-atonic epilepsy | 1 | Sep 26, 2024 |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 | Mar 9, 2023 |
| Myopathy, centronuclear, 5 | 1 | Jul 18, 2023 |
| Myopathy, congenital, with tremor | 1 | Jan 11, 2022 |
| Myopathy, distal, 5 | 2 | Mar 25, 2022 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 2 | Sep 4, 2022 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 | Mar 9, 2023 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Jul 18, 2023 |
| Myopia 23, autosomal recessive | 1 | Mar 25, 2022 |
| Myopia, high, with cataract and vitreoretinal degeneration | 1 | Jan 11, 2022 |
| NAD(P)HX dehydratase deficiency | 3 | Mar 9, 2023 |
| NEURL4-related disorder | 1 | Jan 11, 2022 |
| NSRP1-related disorder | 1 | May 28, 2022 |
| Nail-patella syndrome | 2 | Sep 26, 2024 |
| Nail-patella-like renal disease | 1 | Sep 26, 2024 |
| Nemaline myopathy 10 | 1 | Jan 11, 2022 |
| Nemaline myopathy 2 | 2 | Jan 11, 2022 |
| Nemaline myopathy 8 | 3 | Sep 4, 2022 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 | Sep 26, 2024 |
| Neonatal-onset encephalopathy with rigidity and seizures | 3 | Sep 26, 2024 |
| Nephrogenic syndrome of inappropriate antidiuresis | 1 | Mar 25, 2022 |
| Nephronophthisis 1 | 1 | Mar 9, 2023 |
| Nephronophthisis 11 | 1 | Mar 9, 2023 |
| Nephronophthisis 13 | 1 | Mar 9, 2023 |
| Nephronophthisis 14 | 1 | Jan 11, 2022 |
| Nephronophthisis 15 | 1 | Jan 11, 2022 |
| Nephronophthisis 16 | 1 | Sep 26, 2024 |
| Nephronophthisis 18 | 1 | Sep 26, 2024 |
| Nephronophthisis 19 | 1 | May 28, 2022 |
| Nephronophthisis 20 | 1 | Mar 25, 2022 |
| Nephronophthisis 3 | 2 | Nov 5, 2021 |
| Nephronophthisis 4 | 2 | Sep 26, 2024 |
| Nephropathic cystinosis | 6 | Mar 9, 2023 |
| Nephrotic syndrome 14 | 1 | Sep 26, 2024 |
| Nephrotic syndrome 15 | 1 | May 28, 2022 |
| Nephrotic syndrome, IIa 26 | 1 | Mar 9, 2023 |
| Nephrotic syndrome, type 11 | 4 | Sep 4, 2022 |
| Nephrotic syndrome, type 18 | 4 | Sep 4, 2022 |
| Nephrotic syndrome, type 2 | 5 | May 28, 2022 |
| Nephrotic syndrome, type 21 | 1 | Sep 26, 2024 |
| Nephrotic syndrome, type 22 | 1 | Jan 11, 2022 |
| Nephrotic syndrome, type 24 | 1 | Sep 4, 2022 |
| Nephrotic syndrome, type 3 | 3 | Sep 26, 2024 |
| Nephrotic syndrome, type 4 | 3 | Mar 9, 2023 |
| Nephrotic syndrome, type 9 | 4 | Mar 9, 2023 |
| Netherton syndrome | 4 | Jul 18, 2023 |
| Neu-Laxova syndrome 1 | 1 | Sep 26, 2024 |
| Neurodegeneration with brain iron accumulation 4 | 2 | Sep 4, 2022 |
| Neurodegeneration with brain iron accumulation 5 | 10 | Jul 18, 2023 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2 | Jul 18, 2023 |
| Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | 1 | Sep 4, 2022 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 8 | Sep 26, 2024 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 | Sep 4, 2022 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 2 | Sep 26, 2024 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 2 | Sep 26, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2 | Sep 26, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 1 | Nov 5, 2021 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Jul 18, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 1 | Mar 9, 2023 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 2 | Nov 5, 2021 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 1 | Mar 25, 2022 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 3 | Sep 26, 2024 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 1 | Jul 18, 2023 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 1 | Mar 9, 2023 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 4 | Jul 18, 2023 |
| Neurodevelopmental disorder with hypotonia and dysmorphic facies | 2 | May 28, 2022 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 4 | Sep 26, 2024 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 2 | Jul 18, 2023 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 1 | Mar 9, 2023 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 2 | Sep 26, 2024 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 3 | Sep 26, 2024 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 1 | Nov 5, 2021 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 1 | Mar 9, 2023 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 3 | Sep 4, 2022 |
| Neurodevelopmental disorder with infantile epileptic spasms | 2 | Jan 11, 2022 |
| Neurodevelopmental disorder with involuntary movements | 2 | Jan 11, 2022 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Nov 5, 2021 |
| Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | 1 | Jul 18, 2023 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Nov 5, 2021 |
| Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2 | Sep 4, 2022 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Nov 7, 2021 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 7 | Sep 26, 2024 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 3 | Sep 26, 2024 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 3 | Sep 26, 2024 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 2 | Sep 26, 2024 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 2 | Jan 11, 2022 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 5 | Sep 26, 2024 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 3 | Sep 26, 2024 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 1 | Mar 9, 2023 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 2 | Jul 18, 2023 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 1 | May 28, 2022 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 2 | Mar 9, 2023 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Sep 26, 2024 |
| Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 1 | Sep 26, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 3 | May 28, 2022 |
| Neuroferritinopathy | 1 | Nov 5, 2021 |
| Neurofibromatosis, type 1 | 68 | Jul 18, 2023 |
| Neurofibromatosis, type 2 | 2 | Sep 26, 2024 |
| Neurofibromatosis-Noonan syndrome | 12 | Mar 9, 2023 |
| Neurogenic scapuloperoneal syndrome, Kaeser type | 1 | Jan 11, 2022 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 1 | Sep 26, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 5 | Jul 18, 2023 |
| Neuronal ceroid lipofuscinosis 11 | 1 | Sep 26, 2024 |
| Neuronal ceroid lipofuscinosis 13 | 1 | Jul 18, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 1 | Sep 4, 2022 |
| Neuronal ceroid lipofuscinosis 3 | 4 | Sep 26, 2024 |
| Neuronal ceroid lipofuscinosis 7 | 1 | May 28, 2022 |
| Neuronal ceroid lipofuscinosis 8 | 3 | Sep 4, 2022 |
| Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 | Jan 11, 2022 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 5 | Sep 26, 2024 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | Jan 11, 2022 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 1 | Jul 18, 2023 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | Mar 9, 2023 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Jan 11, 2022 |
| Neuronopathy, distal hereditary motor, type 5A | 2 | Jul 18, 2023 |
| Neuroocular syndrome | 4 | Sep 4, 2022 |
| Neuroocular syndrome 1 | 1 | Sep 26, 2024 |
| Neurooculocardiogenitourinary syndrome | 1 | Nov 5, 2021 |
| Neurooculorenal syndrome | 1 | Sep 26, 2024 |
| Neuropathy, congenital hypomyelinating, 2 | 1 | Nov 5, 2021 |
| Neuropathy, congenital hypomyelinating, 3 | 3 | Sep 26, 2024 |
| Neutral 1 amino acid transport defect | 1 | Mar 25, 2022 |
| Neutral lipid storage myopathy | 1 | Sep 26, 2024 |
| Neutropenia, severe congenital, 1, autosomal dominant | 1 | May 28, 2022 |
| Newfoundland cone-rod dystrophy | 2 | May 28, 2022 |
| Nicolaides-Baraitser syndrome | 7 | Sep 26, 2024 |
| Niemann-Pick disease, type A | 4 | May 28, 2022 |
| Niemann-Pick disease, type B | 3 | Jul 18, 2023 |
| Niemann-Pick disease, type C1 | 5 | Mar 9, 2023 |
| Night blindness, congenital stationary, type1i | 2 | May 28, 2022 |
| Nizon-Isidor syndrome | 1 | Sep 4, 2022 |
| Non-acquired combined pituitary hormone deficiency with spine abnormalities | 2 | Sep 26, 2024 |
| Non-ketotic hyperglycinemia | 13 | Jul 18, 2023 |
| Nonsyndromic congenital nail disorder 1 | 1 | Jan 11, 2022 |
| Nonsyndromic congenital nail disorder 3 | 1 | Jan 11, 2022 |
| Noonan syndrome 1 | 26 | Jul 18, 2023 |
| Noonan syndrome 10 | 2 | Mar 9, 2023 |
| Noonan syndrome 11 | 1 | Mar 9, 2023 |
| Noonan syndrome 12 | 1 | Mar 9, 2023 |
| Noonan syndrome 2 | 1 | Sep 26, 2024 |
| Noonan syndrome 3 | 4 | Mar 9, 2023 |
| Noonan syndrome 4 | 9 | Mar 9, 2023 |
| Noonan syndrome 5 | 4 | Sep 26, 2024 |
| Noonan syndrome 6 | 2 | Mar 25, 2022 |
| Noonan syndrome 7 | 1 | Jan 11, 2022 |
| Noonan syndrome 8 | 8 | Sep 26, 2024 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Nov 5, 2021 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 1 | Nov 5, 2021 |
| Norman-Roberts syndrome | 1 | Sep 26, 2024 |
| Nystagmus 1, congenital, X-linked | 1 | Nov 7, 2021 |
| Nystagmus, congenital, autosomal recessive | 1 | Sep 26, 2024 |
| O'Donnell-Luria-Rodan syndrome | 1 | Mar 9, 2023 |
| Obesity due to leptin receptor gene deficiency | 1 | May 28, 2022 |
| Obesity due to prohormone convertase I deficiency | 2 | Jan 11, 2022 |
| Ocular albinism, type I | 2 | May 28, 2022 |
| Oculocerebrofacial syndrome, Kaufman type | 4 | Jul 18, 2023 |
| Oculocutaneous albinism type 3 | 3 | May 28, 2022 |
| Oculocutaneous albinism type 4 | 1 | Sep 4, 2022 |
| Oculodentodigital dysplasia | 1 | Nov 5, 2021 |
| Oculofaciocardiodental syndrome | 2 | Mar 9, 2023 |
| Oculotrichoanal syndrome | 4 | Sep 26, 2024 |
| Odontochondrodysplasia 1 | 1 | Sep 26, 2024 |
| Ogden syndrome | 5 | Mar 9, 2023 |
| Oguchi disease-1 | 1 | Jan 11, 2022 |
| Okur-Chung neurodevelopmental syndrome | 5 | May 28, 2022 |
| Optic atrophy 12 | 1 | Mar 9, 2023 |
| Optic atrophy 13 with retinal and foveal abnormalities | 1 | May 28, 2022 |
| Ornithine aminotransferase deficiency | 1 | Mar 25, 2022 |
| Ornithine carbamoyltransferase deficiency | 1 | Sep 4, 2022 |
| Orofacial cleft 6, susceptibility to | 1 | Jan 11, 2022 |
| Orofaciodigital syndrome I | 3 | Mar 9, 2023 |
| Orofaciodigital syndrome type 14 | 3 | Sep 26, 2024 |
| Orofaciodigital syndrome type 6 | 5 | Sep 26, 2024 |
| Oroticaciduria | 1 | Jul 18, 2023 |
| Osteochondritis dissecans | 1 | Jan 11, 2022 |
| Osteocraniostenosis | 1 | Sep 26, 2024 |
| Osteogenesis imperfecta type 11 | 1 | Jul 18, 2023 |
| Osteogenesis imperfecta type 13 | 2 | Sep 26, 2024 |
| Osteogenesis imperfecta type 15 | 1 | May 28, 2022 |
| Osteogenesis imperfecta type 16 | 1 | May 28, 2022 |
| Osteogenesis imperfecta type 5 | 1 | Jan 11, 2022 |
| Osteogenesis imperfecta type 6 | 3 | May 28, 2022 |
| Osteogenesis imperfecta type 7 | 4 | Sep 26, 2024 |
| Osteogenesis imperfecta type 8 | 2 | Mar 25, 2022 |
| Osteogenesis imperfecta type I | 8 | Jul 18, 2023 |
| Osteogenesis imperfecta type III | 15 | Jul 18, 2023 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 16 | Jul 18, 2023 |
| Osteogenesis imperfecta, perinatal lethal | 3 | Jul 18, 2023 |
| Osteoglophonic dysplasia | 1 | Nov 7, 2021 |
| Osteopathia striata with cranial sclerosis | 2 | Jul 18, 2023 |
| Osteopetrosis with renal tubular acidosis | 1 | Jan 11, 2022 |
| Osteoporosis with pseudoglioma | 3 | Jul 18, 2023 |
| Oto-palato-digital syndrome, type I | 1 | Mar 9, 2023 |
| Oto-palato-digital syndrome, type II | 1 | Mar 25, 2022 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 | Jul 18, 2023 |
| PCWH syndrome | 1 | Mar 25, 2022 |
| PEHO-like syndrome | 1 | Sep 26, 2024 |
| PERCHING syndrome | 1 | Sep 4, 2022 |
| PHGDH deficiency | 1 | Sep 26, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 4 | Sep 4, 2022 |
| PIDD1-related disorder | 1 | Jan 11, 2022 |
| PMM2-congenital disorder of glycosylation | 13 | Jul 18, 2023 |
| PSAT deficiency | 1 | Jan 11, 2022 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 6 | Jul 18, 2023 |
| PYCR1-related de Barsy syndrome | 2 | Jul 18, 2023 |
| 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 | 3 | Jan 11, 2022 |
| Palmoplantar keratoderma, epidermolytic | 3 | Sep 4, 2022 |
| Palmoplantar keratoderma, punctate type 1A | 1 | Jan 11, 2022 |
| Pancytopenia due to IKZF1 mutations | 1 | Mar 9, 2023 |
| Papillon-Lefèvre syndrome | 1 | May 28, 2022 |
| Paragangliomas 1 | 2 | Jan 11, 2022 |
| Paragangliomas 4 | 2 | Jul 18, 2023 |
| Paramyotonia congenita of Von Eulenburg | 1 | Mar 9, 2023 |
| Parastremmatic dwarfism | 1 | Sep 4, 2022 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Mar 9, 2023 |
| Parkinson disease 17 | 1 | Jul 18, 2023 |
| Parkinson disease, late-onset | 1 | Jan 11, 2022 |
| Parkinsonism-dystonia 3, childhood-onset | 1 | Sep 26, 2024 |
| Paroxysmal nocturnal hemoglobinuria 1 | 1 | Mar 9, 2023 |
| Partial androgen insensitivity syndrome | 3 | Aug 2, 2024 |
| Peeling skin syndrome 1 | 1 | Mar 9, 2023 |
| Pelizaeus-Merzbacher disease | 2 | Jul 18, 2023 |
| Pendred syndrome | 1 | Sep 4, 2022 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | Jul 18, 2023 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Sep 4, 2022 |
| Periventricular nodular heterotopia 6 | 1 | Nov 5, 2021 |
| Periventricular nodular heterotopia 9 | 3 | Mar 9, 2023 |
| Perlman syndrome | 2 | Sep 26, 2024 |
| Peroxisome biogenesis disorder 14B | 1 | Sep 26, 2024 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Sep 26, 2024 |
| Peroxisome biogenesis disorder 1B | 1 | Sep 26, 2024 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 2 | Nov 5, 2021 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 2 | Jul 18, 2023 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Jan 11, 2022 |
| Peroxisome biogenesis disorder 7B | 1 | Sep 4, 2022 |
| Peroxisome biogenesis disorder type 3B | 1 | May 28, 2022 |
| Perrault syndrome 3 | 1 | Sep 26, 2024 |
| Perrault syndrome 4 | 1 | Sep 26, 2024 |
| Perrault syndrome 5 | 1 | Sep 26, 2024 |
| Persistent Mullerian duct syndrome | 1 | Sep 4, 2022 |
| Peters plus syndrome | 1 | May 28, 2022 |
| Pettigrew syndrome | 1 | Mar 9, 2023 |
| Pfeiffer syndrome | 4 | Jul 18, 2023 |
| Phelan-McDermid syndrome | 2 | Aug 2, 2024 |
| Phenylketonuria | 29 | Mar 9, 2023 |
| Pheochromocytoma | 2 | Jan 11, 2022 |
| Phosphate transport defect | 1 | Mar 9, 2023 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 1 | Sep 4, 2022 |
| Pierpont syndrome | 2 | Jan 11, 2022 |
| Pierson syndrome | 6 | Sep 26, 2024 |
| Pigmentary pallidal degeneration | 3 | Mar 9, 2023 |
| Pigmentary retinal dystrophy | 3 | Mar 9, 2023 |
| Pilarowski-Bjornsson syndrome | 1 | Sep 4, 2022 |
| Pitt-Hopkins syndrome | 5 | Jul 18, 2023 |
| Pituitary hormone deficiency, combined, 1 | 2 | May 28, 2022 |
| Pituitary hormone deficiency, combined, 2 | 3 | Sep 4, 2022 |
| Pityriasis rubra pilaris | 1 | Jul 18, 2023 |
| Platelet-type bleeding disorder 10 | 4 | Sep 4, 2022 |
| Platelet-type bleeding disorder 15 | 1 | Jan 11, 2022 |
| Platyspondylic dysplasia, Torrance type | 4 | Jul 18, 2023 |
| Poirier-Bienvenu neurodevelopmental syndrome | 3 | Jan 11, 2022 |
| Polycystic kidney disease 2 | 6 | Mar 9, 2023 |
| Polycystic kidney disease 3 with or without polycystic liver disease | 2 | Mar 25, 2022 |
| Polycystic kidney disease 4 | 14 | Jul 18, 2023 |
| Polycystic kidney disease 5 | 1 | Sep 4, 2022 |
| Polycystic kidney disease, adult type | 27 | Jul 18, 2023 |
| Polycystic liver disease 3 with or without kidney cysts | 2 | Mar 25, 2022 |
| Polydactyly, postaxial, type A1 | 2 | May 28, 2022 |
| Polydactyly, postaxial, type A8 | 1 | Jan 11, 2022 |
| Polydactyly, postaxial, type A9 | 1 | May 28, 2022 |
| Polydactyly, postaxial, type a10 | 1 | Jan 11, 2022 |
| Polyglandular autoimmune syndrome, type 1 | 2 | May 28, 2022 |
| 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 | 1 | Sep 4, 2022 |
| Pontocerebellar hypoplasia type 1B | 1 | Jul 18, 2023 |
| Pontocerebellar hypoplasia type 2A | 2 | Sep 26, 2024 |
| 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 7 | 2 | May 28, 2022 |
| Pontocerebellar hypoplasia type 9 | 1 | Sep 4, 2022 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 4 | Sep 26, 2024 |
| Pontocerebellar hypoplasia, type 1D | 1 | Mar 25, 2022 |
| Porencephaly 2 | 1 | Jan 11, 2022 |
| Predisposition to invasive fungal disease due to CARD9 deficiency | 1 | May 28, 2022 |
| Pretibial dystrophic epidermolysis bullosa | 4 | Jun 28, 2024 |
| Primary ciliary dyskinesia 14 | 4 | Mar 9, 2023 |
| Primary ciliary dyskinesia 15 | 2 | Sep 4, 2022 |
| Primary ciliary dyskinesia 16 | 1 | May 28, 2022 |
| Primary ciliary dyskinesia 19 | 1 | Mar 25, 2022 |
| Primary ciliary dyskinesia 2 | 1 | May 28, 2022 |
| Primary ciliary dyskinesia 22 | 1 | Sep 4, 2022 |
| Primary ciliary dyskinesia 23 | 1 | Mar 25, 2022 |
| Primary ciliary dyskinesia 29 | 2 | Jan 11, 2022 |
| Primary ciliary dyskinesia 3 | 6 | Sep 4, 2022 |
| Primary ciliary dyskinesia 30 | 1 | Mar 9, 2023 |
| Primary ciliary dyskinesia 32 | 1 | Mar 25, 2022 |
| Primary ciliary dyskinesia 7 | 2 | May 28, 2022 |
| Primary ciliary dyskinesia 9 | 1 | May 28, 2022 |
| Primary hyperoxaluria type 3 | 1 | May 28, 2022 |
| Primary hyperoxaluria, type I | 2 | Mar 9, 2023 |
| Primary intraosseous venous malformation | 2 | Sep 4, 2022 |
| Primrose syndrome | 3 | Sep 26, 2024 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 3 | Sep 26, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Mar 9, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 | Sep 4, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 2 | May 28, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 1 | Mar 9, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 3 | Sep 4, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 1 | Mar 25, 2022 |
| Progressive familial intrahepatic cholestasis type 1 | 2 | Sep 26, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 12 | Sep 26, 2024 |
| Progressive familial intrahepatic cholestasis type 3 | 4 | May 28, 2022 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | Sep 26, 2024 |
| Progressive myoclonic epilepsy type 3 | 1 | May 28, 2022 |
| Progressive myoclonic epilepsy type 7 | 1 | Nov 5, 2021 |
| Progressive myositis ossificans | 1 | Mar 25, 2022 |
| Progressive osseous heteroplasia | 1 | Jan 11, 2022 |
| Progressive pseudorheumatoid dysplasia | 4 | Sep 4, 2022 |
| Progressive scapulohumeroperoneal distal myopathy | 1 | Sep 4, 2022 |
| Progressive sclerosing poliodystrophy | 3 | Sep 4, 2022 |
| Proline dehydrogenase deficiency | 1 | May 28, 2022 |
| Prolonged electroretinal response suppression 1 | 1 | Sep 26, 2024 |
| Propionic acidemia | 9 | Sep 26, 2024 |
| Proteinuria, chronic benign | 4 | Sep 4, 2022 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | May 28, 2022 |
| Pseudo-Hurler polydystrophy | 1 | Mar 9, 2023 |
| Pseudo-TORCH syndrome 1 | 1 | Mar 25, 2022 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 1 | Mar 9, 2023 |
| Pseudohypoaldosteronism type 2D | 1 | Jan 11, 2022 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 3 | Sep 26, 2024 |
| Pseudohypoparathyroidism type 1B | 1 | Mar 9, 2023 |
| Pseudohypoparathyroidism type 1C | 2 | Jul 18, 2023 |
| Pseudohypoparathyroidism type I A | 8 | Jul 18, 2023 |
| Pseudopseudohypoparathyroidism | 2 | May 28, 2022 |
| Pseudoxanthoma elasticum, forme fruste | 1 | Mar 9, 2023 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 2 | Jan 11, 2022 |
| Pulmonary venoocclusive disease 1 | 1 | Jul 18, 2023 |
| Pyridoxine-dependent epilepsy | 3 | Mar 9, 2023 |
| Pyropoikilocytosis, hereditary | 2 | Mar 9, 2023 |
| Pyruvate carboxylase deficiency | 1 | Sep 4, 2022 |
| Pyruvate dehydrogenase E1-alpha deficiency | 9 | Jul 18, 2023 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 2 | Sep 26, 2024 |
| Pyruvate kinase deficiency of red cells | 12 | Sep 4, 2022 |
| Pyruvate kinase hyperactivity | 1 | Mar 9, 2023 |
| RCBTB1-related retinopathy | 1 | May 28, 2022 |
| RFT1-congenital disorder of glycosylation | 2 | Jul 18, 2023 |
| RIN2 syndrome | 3 | Sep 26, 2024 |
| ROBO1-related disorder | 1 | Mar 9, 2023 |
| RRM1-related disorder | 1 | Mar 9, 2023 |
| Rabin-Pappas syndrome | 1 | Sep 26, 2024 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Sep 26, 2024 |
| Radio-Tartaglia syndrome | 2 | Jan 11, 2022 |
| Rahman syndrome | 2 | Mar 9, 2023 |
| Rapadilino syndrome | 1 | Sep 26, 2024 |
| Rapp-Hodgkin syndrome | 1 | Sep 4, 2022 |
| Rauch-Steindl syndrome | 2 | May 28, 2022 |
| Recessive dystrophic epidermolysis bullosa | 18 | Mar 9, 2023 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 | Mar 9, 2023 |
| Renal coloboma syndrome | 7 | Jul 18, 2023 |
| Renal cysts and diabetes syndrome | 6 | Jul 18, 2023 |
| Renal hypodysplasia/aplasia 3 | 1 | Sep 4, 2022 |
| Renal hypodysplasia/aplasia 4 | 1 | Sep 4, 2022 |
| Renal hypomagnesemia 5 with ocular involvement | 4 | May 28, 2022 |
| Renal tubular acidosis with progressive nerve deafness | 2 | Jul 18, 2023 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 1 | Sep 4, 2022 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 4 | Mar 9, 2023 |
| Renal tubular dysgenesis | 1 | Nov 5, 2021 |
| Renal-hepatic-pancreatic dysplasia 1 | 1 | Jan 11, 2022 |
| Renpenning syndrome | 2 | Jan 11, 2022 |
| Retinitis pigmentosa 1 | 3 | May 28, 2022 |
| Retinitis pigmentosa 10 | 1 | Jan 11, 2022 |
| Retinitis pigmentosa 12 | 8 | Jul 18, 2023 |
| Retinitis pigmentosa 14 | 4 | Mar 25, 2022 |
| Retinitis pigmentosa 19 | 9 | May 28, 2022 |
| Retinitis pigmentosa 2 | 1 | Sep 4, 2022 |
| Retinitis pigmentosa 20 | 3 | Jan 11, 2022 |
| Retinitis pigmentosa 25 | 12 | Jul 16, 2023 |
| Retinitis pigmentosa 26 | 2 | Jan 11, 2022 |
| Retinitis pigmentosa 28 | 1 | May 28, 2022 |
| Retinitis pigmentosa 3 | 5 | Sep 4, 2022 |
| Retinitis pigmentosa 31 | 1 | Jul 18, 2023 |
| Retinitis pigmentosa 33 | 1 | May 28, 2022 |
| Retinitis pigmentosa 37 | 2 | May 28, 2022 |
| Retinitis pigmentosa 38 | 2 | Jan 11, 2022 |
| Retinitis pigmentosa 39 | 4 | Sep 4, 2022 |
| Retinitis pigmentosa 4 | 4 | May 28, 2022 |
| Retinitis pigmentosa 40 | 3 | May 28, 2022 |
| Retinitis pigmentosa 41 | 4 | Mar 25, 2022 |
| Retinitis pigmentosa 45 | 4 | May 28, 2022 |
| Retinitis pigmentosa 47 | 1 | Jan 11, 2022 |
| Retinitis pigmentosa 49 | 3 | Jul 18, 2023 |
| Retinitis pigmentosa 50 | 1 | May 28, 2022 |
| Retinitis pigmentosa 54 | 3 | Mar 9, 2023 |
| Retinitis pigmentosa 66 | 2 | Jan 11, 2022 |
| Retinitis pigmentosa 7 | 3 | May 28, 2022 |
| Retinitis pigmentosa 73 | 1 | Jan 11, 2022 |
| Retinitis pigmentosa 74 | 2 | May 28, 2022 |
| Retinitis pigmentosa 79 | 2 | May 28, 2022 |
| Retinitis pigmentosa 80 | 3 | Mar 9, 2023 |
| Retinitis pigmentosa 88 | 1 | Jan 11, 2022 |
| Rett syndrome | 14 | Jul 18, 2023 |
| Rett syndrome, congenital variant | 9 | Sep 4, 2022 |
| Rienhoff syndrome | 2 | Sep 4, 2022 |
| Ritscher-Schinzel syndrome 1 | 2 | Sep 26, 2024 |
| Roberts-SC phocomelia syndrome | 2 | Sep 26, 2024 |
| Rothmund-Thomson syndrome type 2 | 2 | Sep 26, 2024 |
| Rotor syndrome | 3 | Aug 2, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 12 | Jul 18, 2023 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 15 | Sep 26, 2024 |
| SHORT syndrome | 2 | May 28, 2022 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 3 | Sep 26, 2024 |
| SNAP25 related neurodevelopmental disorder | 1 | Jan 11, 2022 |
| SNAP25-related disorder | 1 | Mar 25, 2022 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Jul 18, 2023 |
| SYNCRIP-related neurodevelopmental disorder | 1 | May 11, 2023 |
| Saethre-Chotzen syndrome | 3 | Mar 9, 2023 |
| Sandestig-stefanova syndrome | 1 | Sep 26, 2024 |
| Sandhoff disease | 2 | Mar 25, 2022 |
| Schaaf-Yang syndrome | 4 | Jul 18, 2023 |
| Schimke immuno-osseous dysplasia | 1 | Sep 26, 2024 |
| Schinzel-Giedion syndrome | 3 | Sep 26, 2024 |
| Schuurs-Hoeijmakers syndrome | 1 | Nov 5, 2021 |
| Schwartz-Jampel syndrome type 1 | 5 | Sep 26, 2024 |
| Sclerosteosis 1 | 1 | Sep 4, 2022 |
| Seckel syndrome 2 | 2 | Sep 26, 2024 |
| Seckel syndrome 5 | 1 | Sep 26, 2024 |
| Seckel syndrome 8 | 1 | Jan 11, 2022 |
| Seizures, benign familial infantile, 2 | 1 | Nov 5, 2021 |
| Seizures, benign familial neonatal, 2 | 1 | Nov 5, 2021 |
| Senior-Loken syndrome 4 | 1 | Sep 26, 2024 |
| Senior-Loken syndrome 5 | 3 | May 28, 2022 |
| Senior-Loken syndrome 9 | 1 | Sep 26, 2024 |
| Septo-optic dysplasia sequence | 1 | Mar 9, 2023 |
| Severe X-linked mitochondrial encephalomyopathy | 1 | Mar 9, 2023 |
| Severe X-linked myotubular myopathy | 3 | Aug 2, 2024 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Sep 26, 2024 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 2 | Sep 4, 2022 |
| 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 | 1 | Sep 4, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Sep 4, 2022 |
| Severe early-childhood-onset retinal dystrophy | 24 | Aug 2, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 8 | Mar 9, 2023 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 2 | Jan 11, 2022 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 13 | Jul 18, 2023 |
| Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | Aug 21, 2024 |
| Severe myoclonic epilepsy in infancy | 16 | Jul 18, 2023 |
| 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 | 4 | Jul 18, 2023 |
| Short stature with nonspecific skeletal abnormalities | 2 | Mar 9, 2023 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 3 | Sep 26, 2024 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | Sep 26, 2024 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 1 | Sep 26, 2024 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 2 | Sep 4, 2022 |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 1 | Mar 25, 2022 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 2 | Mar 9, 2023 |
| Shukla-Vernon syndrome | 1 | Jul 18, 2023 |
| Shwachman-Diamond syndrome 2 | 1 | Mar 9, 2023 |
| Sialidosis type 2 | 1 | Mar 9, 2023 |
| Sideroblastic anemia 2 | 1 | Jul 18, 2023 |
| Sifrim-Hitz-Weiss syndrome | 2 | Sep 26, 2024 |
| Silver-Russell syndrome 5 | 2 | Mar 9, 2023 |
| Silver-russell syndrome 4 | 1 | May 28, 2022 |
| Simpson-Golabi-Behmel syndrome type 1 | 2 | Sep 26, 2024 |
| Singleton-Merten syndrome 1 | 1 | Jul 18, 2023 |
| Sinoatrial node dysfunction and deafness | 1 | Sep 26, 2024 |
| Sjögren-Larsson syndrome | 1 | May 28, 2022 |
| Skin creases, congenital symmetric circumferential, 2 | 3 | Sep 4, 2022 |
| Skraban-Deardorff syndrome | 1 | Sep 4, 2022 |
| Smith-Lemli-Opitz syndrome | 3 | May 28, 2022 |
| Smith-Magenis syndrome | 4 | Sep 26, 2024 |
| Sneddon syndrome | 1 | Jan 11, 2022 |
| Snijders Blok-Campeau syndrome | 7 | Sep 26, 2024 |
| Snijders blok-fisher syndrome | 4 | Jul 18, 2023 |
| Sorsby fundus dystrophy | 1 | May 28, 2022 |
| Sotos syndrome | 10 | Sep 26, 2024 |
| Spastic ataxia 2 | 1 | Feb 21, 2024 |
| Spastic paraplegia 52, autosomal recessive | 1 | May 28, 2022 |
| Spastic paraplegia 84, autosomal recessive | 1 | Sep 4, 2022 |
| Spastic paraplegia 85, autosomal recessive | 3 | Mar 25, 2022 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 5 | Sep 26, 2024 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Mar 25, 2022 |
| Spermatogenic failure 45 | 1 | Jan 11, 2022 |
| Sphingolipid activator protein 1 deficiency | 1 | Mar 9, 2023 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 1 | Sep 4, 2022 |
| Spinocerebellar ataxia 46 | 1 | Sep 4, 2022 |
| Spinocerebellar ataxia 47 | 1 | Sep 26, 2024 |
| Spinocerebellar ataxia 48 | 1 | Jan 11, 2022 |
| Spinocerebellar ataxia 49 | 1 | Sep 4, 2022 |
| Spinocerebellar ataxia type 13 | 2 | May 28, 2022 |
| Spinocerebellar ataxia type 14 | 2 | Sep 4, 2022 |
| Spinocerebellar ataxia type 15/16 | 1 | Sep 4, 2022 |
| Spinocerebellar ataxia type 28 | 2 | Sep 4, 2022 |
| Spinocerebellar ataxia type 29 | 2 | Nov 5, 2021 |
| Spinocerebellar ataxia type 35 | 1 | Jan 11, 2022 |
| Spinocerebellar ataxia type 38 | 1 | Sep 4, 2022 |
| Spinocerebellar ataxia type 5 | 3 | Sep 4, 2022 |
| Spinocerebellar ataxia type 6 | 2 | Mar 9, 2023 |
| Spinocerebellar ataxia, autosomal recessive 32 | 2 | Sep 4, 2022 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 | Mar 25, 2022 |
| Split hand-foot malformation 4 | 1 | May 28, 2022 |
| Split hand-foot malformation 6 | 1 | Jan 11, 2022 |
| Spondylocarpotarsal synostosis syndrome | 3 | Sep 26, 2024 |
| Spondylocostal dysostosis 1, autosomal recessive | 1 | Sep 4, 2022 |
| Spondylocostal dysostosis 4, autosomal recessive | 1 | Sep 4, 2022 |
| Spondylocostal dysostosis 5 | 2 | Sep 4, 2022 |
| Spondyloenchondrodysplasia with immune dysregulation | 3 | Sep 4, 2022 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 | Mar 9, 2023 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 2 | Jul 18, 2023 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 2 | Mar 25, 2022 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 1 | May 28, 2022 |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 1 | Jan 11, 2022 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 | Nov 5, 2021 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 3 | May 28, 2022 |
| Spondyloepiphyseal dysplasia congenita | 1 | Jan 11, 2022 |
| Spondyloepiphyseal dysplasia tarda, X-linked | 1 | Jan 11, 2022 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Jul 18, 2023 |
| Spondyloepiphyseal dysplasia, Stanescu type | 1 | Mar 25, 2022 |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 | Sep 4, 2022 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 1 | Mar 9, 2023 |
| Spondyloperipheral dysplasia | 5 | Mar 9, 2023 |
| Spongy degeneration of central nervous system | 2 | Sep 4, 2022 |
| Stickler syndrome type 1 | 4 | Jul 18, 2023 |
| Stickler syndrome type 2 | 4 | Mar 9, 2023 |
| Stickler syndrome, type I, nonsyndromic ocular | 2 | Sep 4, 2022 |
| Stiff skin syndrome | 1 | Sep 26, 2024 |
| Stromme syndrome | 1 | Sep 26, 2024 |
| Stüve-Wiedemann syndrome 1 | 2 | Sep 26, 2024 |
| Succinate-semialdehyde dehydrogenase deficiency | 5 | Sep 26, 2024 |
| Succinyl-CoA acetoacetate transferase deficiency | 1 | Sep 4, 2022 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2 | Sep 26, 2024 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Mar 25, 2022 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2 | Sep 26, 2024 |
| Supravalvar aortic stenosis | 1 | Nov 5, 2021 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 3 | Sep 4, 2022 |
| Sweeney-Cox syndrome | 1 | Jul 18, 2023 |
| Symmetrical dyschromatosis of extremities | 1 | Mar 9, 2023 |
| Syndromic X-linked intellectual disability 34 | 1 | Mar 25, 2022 |
| Syndromic X-linked intellectual disability 94 | 2 | Sep 26, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 3 | Nov 7, 2021 |
| Syndromic X-linked intellectual disability Najm type | 8 | Mar 9, 2023 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Jan 11, 2022 |
| Syndromic X-linked intellectual disability Raymond type | 2 | Sep 26, 2024 |
| Syndromic X-linked intellectual disability Snyder type | 2 | Mar 9, 2023 |
| Syndromic microphthalmia type 5 | 3 | May 28, 2022 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 2 | Sep 26, 2024 |
| TAF4 related neurodevelopmental disorder | 1 | May 28, 2022 |
| TAF4-related disorder | 1 | Mar 25, 2022 |
| TARP syndrome | 1 | Jan 11, 2022 |
| TCF12-related craniosynostosis | 2 | Sep 4, 2022 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 1 | Sep 26, 2024 |
| TMEM151A-related disorder | 1 | Mar 9, 2023 |
| TOMM70-related neurodevelopmental disorder | 1 | Jan 11, 2022 |
| TRPM3 related neruodevelopmental disorder | 1 | Jan 11, 2022 |
| TRPM3-related disorder | 1 | Jan 11, 2022 |
| TWIST1-related craniosynostosis | 2 | Sep 4, 2022 |
| Tatton-Brown-Rahman overgrowth syndrome | 2 | Mar 9, 2023 |
| Tay-Sachs disease | 4 | Sep 4, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Mar 25, 2022 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Sep 4, 2022 |
| Temple-Baraitser syndrome | 1 | Jan 11, 2022 |
| Testicular anomalies with or without congenital heart disease | 1 | Aug 2, 2024 |
| Testosterone 17-beta-dehydrogenase deficiency | 3 | Jul 18, 2023 |
| Tetralogy of Fallot | 3 | Sep 26, 2024 |
| Thanatophoric dysplasia type 1 | 1 | Mar 9, 2023 |
| Thrombocytopenia 1 | 2 | Sep 26, 2024 |
| Thrombocytopenia 7 | 1 | Mar 9, 2023 |
| Thrombocytopenia, anemia, and myelofibrosis | 3 | Sep 4, 2022 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 | Mar 9, 2023 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Mar 25, 2022 |
| Thyroglobulin synthesis defect | 2 | Mar 9, 2023 |
| Thyroid dyshormonogenesis 1 | 1 | Mar 9, 2023 |
| Thyroid dyshormonogenesis 6 | 8 | Mar 9, 2023 |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 | Sep 4, 2022 |
| Tietz syndrome | 1 | Sep 4, 2022 |
| Timothy syndrome | 1 | Mar 9, 2023 |
| Tolchin-Le Caignec syndrome | 1 | Sep 4, 2022 |
| Townes-Brocks syndrome 1 | 2 | Sep 4, 2022 |
| Transcobalamin II deficiency | 1 | Mar 9, 2023 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 2 | Jul 18, 2023 |
| Treacher Collins syndrome 1 | 19 | Mar 9, 2023 |
| Treacher Collins syndrome 2 | 2 | Mar 9, 2023 |
| Treacher Collins syndrome 3 | 1 | Sep 26, 2024 |
| Treacher Collins syndrome 4 | 2 | Mar 9, 2023 |
| Trichohepatoenteric syndrome 1 | 2 | May 28, 2022 |
| Trichohepatoenteric syndrome 2 | 4 | Sep 26, 2024 |
| Trichohepatoneurodevelopmental syndrome | 2 | Mar 25, 2022 |
| Trichorhinophalangeal syndrome, type III | 1 | May 28, 2022 |
| Trichothiodystrophy 1, photosensitive | 1 | Sep 26, 2024 |
| Trichothiodystrophy 8, nonphotosensitive | 2 | Sep 26, 2024 |
| Triglyceride storage disease with ichthyosis | 1 | Jul 18, 2023 |
| Trigonocephaly-short stature-developmental delay syndrome | 2 | Sep 26, 2024 |
| Triosephosphate isomerase deficiency | 1 | Mar 25, 2022 |
| Tropical pancreatitis | 1 | Sep 4, 2022 |
| Troyer syndrome | 2 | May 28, 2022 |
| Tuberous sclerosis 1 | 9 | Sep 26, 2024 |
| Tuberous sclerosis 2 | 33 | Sep 26, 2024 |
| Type 2 diabetes mellitus | 1 | Mar 25, 2022 |
| Type A2 brachydactyly | 1 | Jan 11, 2022 |
| Tyrosinase-negative oculocutaneous albinism | 7 | Sep 4, 2022 |
| Tyrosinase-positive oculocutaneous albinism | 18 | Aug 2, 2024 |
| Tyrosinemia type I | 6 | Mar 9, 2023 |
| Tyrosinemia type III | 1 | Jan 11, 2022 |
| UBE4A-related disorder | 1 | Jan 11, 2022 |
| UFSP2-related neurodevelopmental disorder | 1 | Mar 25, 2022 |
| Ullrich congenital muscular dystrophy 1A | 6 | Mar 9, 2023 |
| Ullrich congenital muscular dystrophy 2 | 2 | Jul 18, 2023 |
| Ulnar-mammary syndrome | 1 | Mar 9, 2023 |
| Upshaw-Schulman syndrome | 2 | Sep 4, 2022 |
| Uruguay Faciocardiomusculoskeletal syndrome | 1 | Jul 18, 2023 |
| Usher syndrome type 1 | 10 | May 28, 2022 |
| Usher syndrome type 1C | 1 | Jan 11, 2022 |
| Usher syndrome type 1D | 2 | Jun 28, 2024 |
| Usher syndrome type 1F | 1 | May 28, 2022 |
| Usher syndrome type 1G | 2 | Oct 15, 2023 |
| Usher syndrome type 2A | 21 | Jul 18, 2023 |
| Usher syndrome type 2C | 1 | Jan 11, 2022 |
| Usher syndrome type 2D | 1 | Sep 26, 2024 |
| Usher syndrome type 3A | 1 | Jan 11, 2022 |
| Usher syndrome, type 4 | 1 | Sep 4, 2022 |
| Usmani-Riazuddin syndrome, autosomal dominant | 2 | Jul 18, 2023 |
| VISS syndrome | 2 | Sep 26, 2024 |
| Van Maldergem syndrome 1 | 5 | Sep 26, 2024 |
| Van Maldergem syndrome 2 | 4 | Sep 26, 2024 |
| Van den Ende-Gupta syndrome | 1 | Mar 25, 2022 |
| Vanishing white matter disease | 5 | Jul 18, 2023 |
| Vasculitis due to ADA2 deficiency | 2 | Mar 25, 2022 |
| Velocardiofacial syndrome | 3 | Sep 26, 2024 |
| Ventricular septal defect 3 | 1 | Sep 4, 2022 |
| Ventriculomegaly and arthrogryposis | 4 | Sep 26, 2024 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 1 | May 28, 2022 |
| 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 | 1 | Sep 26, 2024 |
| Very long chain acyl-CoA dehydrogenase deficiency | 4 | Sep 26, 2024 |
| Vici syndrome | 1 | Sep 26, 2024 |
| Visceral myopathy 1 | 1 | Nov 5, 2021 |
| Visceral neuropathy, familial, 2, autosomal recessive | 3 | Sep 26, 2024 |
| Vitamin D-dependent rickets type II with alopecia | 3 | Mar 9, 2023 |
| Vitamin D-dependent rickets, type 1A | 5 | Jul 18, 2023 |
| Vitelliform macular dystrophy 2 | 2 | Mar 9, 2023 |
| WHIM syndrome 1 | 1 | Mar 25, 2022 |
| Waardenburg syndrome type 1 | 1 | May 28, 2022 |
| Waardenburg syndrome type 2A | 5 | Sep 4, 2022 |
| Waardenburg syndrome type 2E | 2 | Mar 9, 2023 |
| Waardenburg syndrome type 4A | 2 | Mar 25, 2022 |
| Waardenburg syndrome type 4C | 1 | May 28, 2022 |
| Wagner syndrome | 1 | May 28, 2022 |
| Warburg micro syndrome 1 | 2 | Mar 9, 2023 |
| Warsaw breakage syndrome | 2 | Mar 9, 2023 |
| Weaver syndrome | 2 | Mar 9, 2023 |
| Weill-Marchesani 4 syndrome, recessive | 6 | Sep 26, 2024 |
| Weill-Marchesani syndrome 1 | 3 | Sep 26, 2024 |
| Weill-Marchesani syndrome 2, dominant | 2 | Sep 26, 2024 |
| Weill-Marchesani syndrome 3 | 2 | Sep 26, 2024 |
| Weiss-Kruszka syndrome | 1 | Mar 25, 2022 |
| Werner syndrome | 2 | Sep 26, 2024 |
| Wieacker-Wolff syndrome | 1 | Jul 18, 2023 |
| Wieacker-Wolff syndrome, female-restricted | 1 | May 28, 2022 |
| Wiedemann-Steiner syndrome | 21 | Sep 26, 2024 |
| Wilms tumor 6 | 1 | Sep 26, 2024 |
| Wilson disease | 10 | Jul 18, 2023 |
| Wiskott-Aldrich syndrome | 5 | Sep 26, 2024 |
| Wolcott-Rallison dysplasia | 3 | Sep 26, 2024 |
| Wolff-Parkinson-White pattern | 1 | Jan 11, 2022 |
| Wolfram syndrome 1 | 3 | Sep 4, 2022 |
| Wolfram syndrome 2 | 1 | Sep 4, 2022 |
| Woolly hair-skin fragility syndrome | 1 | Jan 11, 2022 |
| Wrinkly skin syndrome | 1 | Sep 26, 2024 |
| X-linked Alport syndrome | 38 | Jul 18, 2023 |
| X-linked Emery-Dreifuss muscular dystrophy | 2 | Mar 9, 2023 |
| X-linked Opitz G/BBB syndrome | 2 | Sep 26, 2024 |
| X-linked agammaglobulinemia | 5 | Sep 26, 2024 |
| X-linked agammaglobulinemia with growth hormone deficiency | 3 | Sep 26, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | May 28, 2022 |
| X-linked chondrodysplasia punctata 1 | 2 | Mar 9, 2023 |
| X-linked complicated corpus callosum dysgenesis | 1 | Jan 11, 2022 |
| X-linked cone-rod dystrophy 1 | 1 | Jan 11, 2022 |
| X-linked distal spinal muscular atrophy type 3 | 8 | Sep 26, 2024 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 3 | Sep 26, 2024 |
| X-linked intellectual disability Cabezas type | 4 | Sep 26, 2024 |
| X-linked intellectual disability with marfanoid habitus | 3 | Aug 2, 2024 |
| X-linked intellectual disability, Cantagrel type | 3 | Sep 26, 2024 |
| X-linked intellectual disability, Stocco dos Santos type | 1 | Nov 7, 2021 |
| X-linked intellectual disability, van Esch type | 1 | Mar 9, 2023 |
| X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | 1 | Nov 7, 2021 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Jan 11, 2022 |
| X-linked lissencephaly with abnormal genitalia | 1 | Mar 25, 2022 |
| X-linked lymphoproliferative disease due to SH2D1A deficiency | 1 | Mar 9, 2023 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Sep 26, 2024 |
| X-linked progressive cerebellar ataxia | 1 | Sep 4, 2022 |
| X-linked severe congenital neutropenia | 1 | Sep 26, 2024 |
| Xeroderma pigmentosum group A | 4 | Jul 18, 2023 |
| Xeroderma pigmentosum variant type | 1 | Jan 11, 2022 |
| Xeroderma pigmentosum, group C | 3 | Jan 11, 2022 |
| Xeroderma pigmentosum, group D | 1 | Sep 26, 2024 |
| Xeroderma pigmentosum, group E | 3 | Jul 18, 2023 |
| Xeroderma pigmentosum, group G | 1 | Sep 4, 2022 |
| Yoon-Bellen neurodevelopmental syndrome | 1 | Jul 18, 2023 |
| ZNFX1-related disorder | 1 | Jan 11, 2022 |
| ZTTK syndrome | 4 | Jul 18, 2023 |
| Zimmermann-laband syndrome 3 | 1 | Jul 18, 2023 |
| alpha Thalassemia | 4 | Aug 2, 2024 |
| beta Thalassemia | 6 | Sep 4, 2022 |
| von Willebrand disease type 2 | 1 | Jul 18, 2023 |
| von Willebrand disease type 3 | 4 | Sep 4, 2022 |
