| 3 beta-Hydroxysteroid dehydrogenase deficiency | 3 | Apr 24, 2025 |
| 3-Methylglutaconic aciduria type 3 | 1 | Oct 19, 2023 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3 | Jan 27, 2025 |
| 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 3 | Oct 4, 2024 |
| 3-hydroxyisobutyryl-CoA hydrolase deficiency | 2 | Jun 7, 2024 |
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 2 | Sep 5, 2024 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Oct 19, 2023 |
| 3-methylglutaconic aciduria, type VIIA | 3 | Nov 16, 2024 |
| 3-methylglutaconic aciduria, type VIIB | 1 | Feb 11, 2025 |
| 3M syndrome 1 | 6 | Sep 5, 2024 |
| 3M syndrome 2 | 8 | Sep 5, 2024 |
| 3MC syndrome 1 | 1 | Dec 16, 2024 |
| 3MC syndrome 2 | 2 | Oct 19, 2023 |
| 46,XX ovarian dysgenesis-short stature syndrome | 1 | Jul 11, 2025 |
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 1 | Jan 27, 2025 |
| 46,XY sex reversal 11 | 1 | Sep 5, 2024 |
| 46,XY sex reversal 3 | 1 | May 2, 2025 |
| 46,XY sex reversal 7 | 2 | Apr 24, 2025 |
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 1 | Oct 19, 2023 |
| 8q24.3 microdeletion syndrome | 2 | Jan 27, 2025 |
| ACCES syndrome | 1 | Aug 1, 2025 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 | Sep 5, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 10 | Apr 24, 2025 |
| ALG1-congenital disorder of glycosylation | 2 | Aug 1, 2025 |
| ALG11-congenital disorder of glycosylation | 1 | Oct 19, 2023 |
| ALG3-congenital disorder of glycosylation | 3 | Nov 16, 2024 |
| ALG6-congenital disorder of glycosylation 1C | 1 | Nov 23, 2023 |
| Abdominal obesity-metabolic syndrome 3 | 1 | Jun 7, 2024 |
| Abdominal obesity-metabolic syndrome 4 | 2 | Aug 1, 2025 |
| Abetalipoproteinaemia | 2 | Nov 16, 2024 |
| Abortive cerebellar ataxia | 4 | Jun 7, 2024 |
| Achondroplasia | 2 | Jan 20, 2025 |
| Achromatopsia 2 | 4 | Aug 27, 2024 |
| Achromatopsia 7 | 1 | Nov 16, 2024 |
| Acne inversa, familial, 1 | 1 | Nov 16, 2024 |
| Acne inversa, familial, 2 | 1 | Oct 19, 2023 |
| Acrocephalosyndactyly type I | 2 | Feb 2, 2022 |
| Acrodysostosis 2 with or without hormone resistance | 1 | Apr 24, 2025 |
| Acroerythrokeratoderma | 2 | Jun 7, 2024 |
| Acrofacial dysostosis Cincinnati type | 1 | Jun 7, 2024 |
| Acromesomelic dysplasia 1, Maroteaux type | 2 | Nov 16, 2024 |
| Actin accumulation myopathy | 2 | Sep 5, 2024 |
| Action myoclonus-renal failure syndrome | 2 | Aug 1, 2025 |
| Acute febrile neutrophilic dermatosis | 1 | May 2, 2024 |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 3 | Dec 16, 2024 |
| Acute intermittent porphyria | 8 | Dec 16, 2024 |
| Acute myeloid leukemia | 2 | Aug 1, 2025 |
| Acyl-CoA dehydrogenase 9 deficiency | 1 | Aug 1, 2025 |
| Acyl-CoA oxidase deficiency | 3 | Jan 20, 2025 |
| Adams-Oliver syndrome 1 | 3 | May 2, 2024 |
| Adams-Oliver syndrome 2 | 1 | Dec 9, 2023 |
| Adams-Oliver syndrome 3 | 1 | May 2, 2025 |
| Adenine phosphoribosyltransferase deficiency | 1 | Dec 16, 2024 |
| Adenylosuccinate lyase deficiency | 3 | Nov 16, 2024 |
| Adrenocortical carcinoma, hereditary | 1 | Jan 27, 2025 |
| Adrenoleukodystrophy | 13 | Jul 11, 2025 |
| Adult-onset autosomal dominant demyelinating leukodystrophy | 1 | Oct 19, 2023 |
| Agammaglobulinemia 8, autosomal dominant | 7 | Jan 20, 2025 |
| Agammaglobulinemia 9, autosomal recessive | 1 | Oct 19, 2023 |
| Aicardi-Goutieres syndrome 1 | 1 | Dec 24, 2024 |
| Aicardi-Goutieres syndrome 2 | 3 | May 2, 2025 |
| Aicardi-Goutieres syndrome 3 | 2 | Jan 20, 2025 |
| Aicardi-Goutieres syndrome 4 | 2 | Dec 16, 2024 |
| Aicardi-Goutieres syndrome 5 | 1 | Jan 27, 2025 |
| Aicardi-Goutieres syndrome 6 | 3 | Aug 1, 2025 |
| Aicardi-Goutieres syndrome 7 | 2 | Aug 1, 2025 |
| Al Kaissi syndrome | 1 | Jul 28, 2025 |
| Al-Raqad syndrome | 1 | Jan 31, 2025 |
| Alacrima, achalasia, and intellectual disability syndrome | 1 | Oct 19, 2023 |
| Alagille syndrome due to a JAG1 point mutation | 10 | Jan 31, 2025 |
| Alagille syndrome due to a NOTCH2 point mutation | 3 | Dec 24, 2024 |
| Aland island eye disease | 1 | Dec 7, 2023 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 3 | Oct 4, 2024 |
| Alexander disease | 4 | May 2, 2025 |
| Alkaptonuria | 5 | Jul 28, 2025 |
| Allan-Herndon-Dudley syndrome | 3 | May 2, 2025 |
| Alopecia universalis congenita | 1 | Oct 4, 2024 |
| Alopecia-intellectual disability syndrome 4 | 1 | Jun 20, 2024 |
| Alpha thalassemia-X-linked intellectual disability syndrome | 1 | Jun 20, 2024 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 | Oct 19, 2023 |
| Alport syndrome 3b, autosomal recessive | 1 | Aug 1, 2025 |
| Alstrom syndrome | 10 | Apr 24, 2025 |
| Alternating hemiplegia of childhood 1 | 1 | Jan 9, 2023 |
| Alternating hemiplegia of childhood 2 | 3 | Nov 3, 2023 |
| Alzheimer disease 3 | 2 | Oct 27, 2023 |
| Alzheimer disease 9 | 6 | Oct 19, 2023 |
| Alzheimer disease type 1 | 3 | Oct 4, 2024 |
| Amelocerebrohypohidrotic syndrome | 2 | Oct 19, 2023 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 1 | Feb 11, 2025 |
| Amelogenesis imperfecta type 1G | 1 | Dec 12, 2023 |
| Aminoacylase 1 deficiency | 2 | Jun 13, 2024 |
| Amyloidosis, hereditary systemic 1 | 1 | Jun 13, 2024 |
| Amyotrophic lateral sclerosis type 1 | 5 | Jul 28, 2025 |
| Amyotrophic lateral sclerosis type 12 | 1 | Jan 20, 2025 |
| Amyotrophic lateral sclerosis type 15 | 1 | Jan 20, 2025 |
| Amyotrophic lateral sclerosis type 21 | 1 | Oct 19, 2023 |
| Amyotrophic lateral sclerosis type 22 | 1 | Sep 5, 2024 |
| Amyotrophic lateral sclerosis type 4 | 12 | May 2, 2025 |
| Amyotrophic lateral sclerosis type 5 | 1 | Nov 16, 2024 |
| Amyotrophic lateral sclerosis type 6 | 3 | Oct 19, 2023 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 1 | Dec 16, 2024 |
| Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 2 | Jan 27, 2025 |
| Anauxetic dysplasia 2 | 1 | Apr 24, 2025 |
| Andersen Tawil syndrome | 1 | Nov 16, 2024 |
| Androgen resistance syndrome | 2 | Feb 2, 2022 |
| Anemia, congenital dyserythropoietic, type 1a | 4 | Oct 4, 2024 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 9 | Jan 31, 2025 |
| Anemia, sideroblastic, 5 | 1 | Oct 4, 2024 |
| Anencephaly 2 | 1 | Nov 24, 2023 |
| Angelman syndrome | 4 | Sep 5, 2024 |
| Aniridia 1 | 1 | Jan 27, 2025 |
| Annular epidermolytic ichthyosis | 1 | Feb 2, 2022 |
| Anophthalmia/microphthalmia-esophageal atresia syndrome | 2 | Jan 31, 2025 |
| Anterior segment dysgenesis 3 | 1 | Sep 5, 2024 |
| Anterior segment dysgenesis 6 | 2 | May 2, 2024 |
| Anterior segment dysgenesis 8 | 1 | Jun 20, 2024 |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 2 | Feb 11, 2025 |
| Aortic aneurysm, familial thoracic 4 | 1 | Oct 19, 2023 |
| Aortic valve disease 2 | 1 | Oct 19, 2023 |
| Aortic valve disease 3 | 1 | Oct 19, 2023 |
| Apparent mineralocorticoid excess | 1 | Dec 9, 2023 |
| Arginase deficiency | 2 | Dec 9, 2023 |
| Argininosuccinate lyase deficiency | 2 | Dec 16, 2024 |
| Ariboflavinosis | 1 | Oct 19, 2023 |
| Arrhinia with choanal atresia and microphthalmia syndrome | 1 | Dec 31, 2024 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Oct 19, 2023 |
| Arrhythmogenic right ventricular dysplasia 1 | 1 | Dec 16, 2024 |
| Arrhythmogenic right ventricular dysplasia 13 | 2 | Dec 7, 2023 |
| Arrhythmogenic right ventricular dysplasia 2 | 1 | Feb 2, 2022 |
| Arrhythmogenic right ventricular dysplasia 5 | 2 | Dec 16, 2024 |
| Arrhythmogenic right ventricular dysplasia 8 | 2 | Jan 27, 2025 |
| Arrhythmogenic right ventricular dysplasia 9 | 5 | Nov 16, 2024 |
| Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 1 | Jun 7, 2024 |
| Arthrogryposis multiplex congenita 2, neurogenic type | 1 | Oct 4, 2024 |
| Arthrogryposis multiplex congenita 3, myogenic type | 5 | Oct 19, 2023 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 | Dec 7, 2023 |
| Arthrogryposis multiplex congenita 5 | 3 | Dec 24, 2024 |
| Arthrogryposis multiplex congenita 6 | 8 | Jan 31, 2025 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 1 | Aug 1, 2025 |
| Arthrogryposis, distal, IIa 11 | 1 | Dec 12, 2023 |
| Arthrogryposis, distal, type 1A | 1 | Aug 1, 2025 |
| Arthrogryposis, distal, type 2B2 | 1 | May 2, 2024 |
| Arthrogryposis, distal, with impaired proprioception and touch | 3 | Oct 27, 2023 |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 3 | Oct 4, 2024 |
| Arts syndrome | 1 | Jan 20, 2025 |
| Asphyxiating thoracic dystrophy 2 | 1 | May 2, 2024 |
| Asphyxiating thoracic dystrophy 3 | 8 | Jan 27, 2025 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 | Jan 27, 2025 |
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 3 | Jun 7, 2024 |
| Ataxia-pancytopenia syndrome | 4 | Jan 20, 2025 |
| Ataxia-telangiectasia syndrome | 33 | Apr 24, 2025 |
| Ataxia-telangiectasia-like disorder 1 | 4 | Feb 11, 2025 |
| Atelosteogenesis type II | 1 | Jun 7, 2024 |
| Atransferrinemia | 1 | Jun 7, 2024 |
| Atrial conduction disease | 2 | Jun 7, 2024 |
| Atrial fibrillation, familial, 7 | 3 | Dec 7, 2023 |
| Atrial septal defect 7 | 1 | Oct 19, 2023 |
| Atrial standstill 1 | 1 | Nov 24, 2023 |
| Atrophia bulborum hereditaria | 1 | Jun 7, 2024 |
| Attention deficit-hyperactivity disorder, susceptibility to, 7 | 1 | Jan 27, 2025 |
| Atypical glycine encephalopathy | 2 | Sep 5, 2024 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Dec 7, 2023 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Oct 27, 2023 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 1 | Nov 24, 2023 |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 | Oct 19, 2023 |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 | Mar 15, 2024 |
| Auditory neuropathy-optic atrophy syndrome | 2 | Feb 2, 2022 |
| Auriculocondylar syndrome 2 | 1 | May 2, 2024 |
| Autism spectrum disorder due to AUTS2 deficiency | 2 | Dec 16, 2024 |
| Autism, susceptibility to, X-linked 2 | 1 | Jun 7, 2024 |
| Autism, susceptibility to, X-linked 3 | 3 | Jan 27, 2025 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 4 | Jan 27, 2025 |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 | Nov 16, 2024 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 2 | Jun 7, 2024 |
| Autoimmune lymphoproliferative syndrome type 1 | 2 | Dec 16, 2024 |
| Autoimmune lymphoproliferative syndrome type 2A | 3 | Aug 1, 2025 |
| Autoinflammation with arthritis and dyskeratosis | 1 | Oct 4, 2024 |
| Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive | 2 | Jan 27, 2025 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 4 | May 2, 2025 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 2 | Dec 7, 2023 |
| Autosomal dominant Alport syndrome | 9 | Aug 1, 2025 |
| Autosomal dominant Parkinson disease 1 | 1 | Jul 28, 2025 |
| Autosomal dominant Parkinson disease 8 | 6 | Jul 11, 2025 |
| Autosomal dominant Robinow syndrome 1 | 2 | Dec 16, 2024 |
| Autosomal dominant aplasia and myelodysplasia | 2 | Sep 5, 2024 |
| Autosomal dominant centronuclear myopathy | 2 | Sep 5, 2024 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2 | Jan 20, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Feb 2, 2022 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2 | May 2, 2024 |
| Autosomal dominant distal renal tubular acidosis | 2 | Dec 16, 2024 |
| Autosomal dominant hypocalcemia 1 | 2 | Oct 19, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 5 | Jan 27, 2025 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 2 | Oct 19, 2023 |
| Autosomal dominant limb-girdle muscular dystrophy type 1G | 1 | May 2, 2025 |
| Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 2 | Jul 11, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 | Feb 2, 2022 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2 | Apr 24, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 | May 2, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 3 | Dec 7, 2023 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | Nov 16, 2024 |
| Autosomal dominant nonsyndromic hearing loss 11 | 2 | Nov 16, 2024 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Aug 1, 2025 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | May 2, 2025 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Feb 2, 2022 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Oct 27, 2023 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Oct 19, 2023 |
| Autosomal dominant nonsyndromic hearing loss 28 | 1 | Jan 27, 2025 |
| Autosomal dominant nonsyndromic hearing loss 2A | 2 | Oct 27, 2023 |
| Autosomal dominant nonsyndromic hearing loss 2B | 1 | Nov 16, 2024 |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 | Oct 19, 2023 |
| Autosomal dominant nonsyndromic hearing loss 4A | 2 | Dec 7, 2023 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | May 2, 2024 |
| Autosomal dominant nonsyndromic hearing loss 56 | 3 | Oct 4, 2024 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | May 2, 2025 |
| Autosomal dominant nonsyndromic hearing loss 7 | 1 | Nov 16, 2024 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Dec 16, 2024 |
| Autosomal dominant optic atrophy classic form | 1 | Jun 7, 2024 |
| Autosomal dominant osteopetrosis 1 | 1 | Oct 27, 2023 |
| Autosomal dominant osteopetrosis 2 | 2 | Nov 16, 2024 |
| Autosomal dominant sensory ataxia 1 | 1 | Dec 9, 2023 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Jun 7, 2024 |
| Autosomal dominant striatal neurodegeneration type 1 | 1 | Sep 5, 2024 |
| Autosomal recessive Alport syndrome | 10 | Nov 16, 2024 |
| Autosomal recessive DOPA responsive dystonia | 7 | Nov 16, 2024 |
| Autosomal recessive Robinow syndrome | 1 | Nov 23, 2023 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 3 | Jan 20, 2025 |
| Autosomal recessive ataxia, Beauce type | 6 | Jan 20, 2025 |
| Autosomal recessive axonal neuropathy with neuromyotonia | 1 | Nov 16, 2024 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 4 | May 2, 2025 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Jan 9, 2023 |
| Autosomal recessive congenital ichthyosis 1 | 11 | Jun 13, 2024 |
| Autosomal recessive congenital ichthyosis 10 | 6 | Dec 16, 2024 |
| Autosomal recessive congenital ichthyosis 2 | 1 | Jan 20, 2025 |
| Autosomal recessive congenital ichthyosis 3 | 1 | Dec 16, 2024 |
| Autosomal recessive congenital ichthyosis 4A | 4 | Nov 16, 2024 |
| Autosomal recessive congenital ichthyosis 4B | 2 | Oct 19, 2023 |
| Autosomal recessive congenital ichthyosis 5 | 3 | Dec 16, 2024 |
| Autosomal recessive congenital ichthyosis 6 | 2 | Sep 5, 2024 |
| Autosomal recessive congenital ichthyosis 9 | 1 | Oct 19, 2023 |
| Autosomal recessive distal spinal muscular atrophy 1 | 4 | Jan 20, 2025 |
| Autosomal recessive distal spinal muscular atrophy 2 | 2 | Oct 19, 2023 |
| Autosomal recessive early-onset Parkinson disease 23 | 5 | Jan 20, 2025 |
| Autosomal recessive early-onset Parkinson disease 6 | 5 | Jan 27, 2025 |
| Autosomal recessive early-onset Parkinson disease 7 | 2 | Dec 16, 2024 |
| Autosomal recessive hypophosphatemic bone disease | 4 | Aug 1, 2025 |
| Autosomal recessive inherited pseudoxanthoma elasticum | 3 | Nov 30, 2023 |
| Autosomal recessive juvenile Parkinson disease 2 | 2 | Dec 24, 2024 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome | 1 | Nov 16, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 27 | May 2, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 29 | Jul 28, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2C | 6 | Dec 24, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 8 | Jul 28, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 11 | May 2, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 2 | Dec 16, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 5 | May 2, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 | Nov 16, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 | Nov 16, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 3 | Dec 24, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 | Jun 7, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 1 | Jan 20, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 6 | Dec 16, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 2 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2W | 1 | Oct 19, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Y | 1 | Nov 16, 2024 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Oct 19, 2023 |
| Autosomal recessive multiple pterygium syndrome | 1 | Dec 16, 2024 |
| Autosomal recessive nonsyndromic hearing loss 12 | 4 | Jan 27, 2025 |
| Autosomal recessive nonsyndromic hearing loss 15 | 2 | Jan 27, 2025 |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 18B | 5 | Jan 27, 2025 |
| Autosomal recessive nonsyndromic hearing loss 1A | 7 | Aug 1, 2025 |
| Autosomal recessive nonsyndromic hearing loss 2 | 3 | Jun 7, 2024 |
| Autosomal recessive nonsyndromic hearing loss 22 | 2 | Aug 1, 2025 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Jan 20, 2025 |
| Autosomal recessive nonsyndromic hearing loss 24 | 1 | Oct 19, 2023 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Nov 23, 2023 |
| Autosomal recessive nonsyndromic hearing loss 3 | 10 | May 2, 2025 |
| Autosomal recessive nonsyndromic hearing loss 30 | 3 | Jun 7, 2024 |
| Autosomal recessive nonsyndromic hearing loss 36 | 2 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 4 | 8 | May 2, 2025 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Aug 1, 2025 |
| Autosomal recessive nonsyndromic hearing loss 59 | 1 | May 2, 2024 |
| Autosomal recessive nonsyndromic hearing loss 6 | 2 | Dec 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 61 | 1 | Jun 20, 2024 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 70 | 1 | Dec 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 74 | 1 | May 2, 2024 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Dec 12, 2023 |
| Autosomal recessive nonsyndromic hearing loss 79 | 1 | Dec 9, 2023 |
| Autosomal recessive nonsyndromic hearing loss 8 | 2 | Jul 28, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Aug 1, 2025 |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 | Dec 7, 2023 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Jun 13, 2024 |
| Autosomal recessive nonsyndromic hearing loss 93 | 2 | Dec 7, 2023 |
| Autosomal recessive osteopetrosis 1 | 4 | Oct 4, 2024 |
| Autosomal recessive osteopetrosis 2 | 1 | Nov 16, 2024 |
| Autosomal recessive osteopetrosis 4 | 5 | Dec 16, 2024 |
| Autosomal recessive osteopetrosis 7 | 1 | Jan 9, 2023 |
| Autosomal recessive osteopetrosis 8 | 1 | Nov 23, 2023 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 | Aug 1, 2025 |
| Autosomal recessive spastic paraplegia type 76 | 1 | Oct 19, 2023 |
| Autosomal recessive spastic paraplegia type 78 | 4 | Dec 16, 2024 |
| Autosomal recessive spinocerebellar ataxia 14 | 8 | Jan 27, 2025 |
| Autosomal recessive spinocerebellar ataxia 16 | 3 | Jan 27, 2025 |
| Autosomal recessive spinocerebellar ataxia 2 | 1 | Oct 27, 2023 |
| Autosomal recessive spinocerebellar ataxia 20 | 3 | Jan 27, 2025 |
| Avellino corneal dystrophy | 1 | Sep 5, 2024 |
| Axenfeld-Rieger syndrome type 3 | 3 | Jan 27, 2025 |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 5 | Jan 20, 2025 |
| B4GALT1-congenital disorder of glycosylation | 1 | Oct 4, 2024 |
| BENTA disease | 1 | Oct 4, 2024 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 2 | Oct 19, 2023 |
| Baller-Gerold syndrome | 2 | Oct 19, 2023 |
| Bardet-Biedl syndrome 1 | 2 | Jan 20, 2025 |
| Bardet-Biedl syndrome 10 | 3 | May 2, 2025 |
| Bardet-Biedl syndrome 12 | 2 | Oct 19, 2023 |
| Bardet-Biedl syndrome 14 | 1 | Dec 7, 2023 |
| Bardet-Biedl syndrome 2 | 5 | Jun 13, 2024 |
| Bardet-Biedl syndrome 5 | 1 | Jan 9, 2023 |
| Bardet-Biedl syndrome 6 | 2 | Aug 1, 2025 |
| Bardet-Biedl syndrome 7 | 2 | Oct 19, 2023 |
| Bardet-Biedl syndrome 8 | 3 | Nov 16, 2024 |
| Bardet-Biedl syndrome 9 | 2 | Apr 24, 2025 |
| Bartter disease type 1 | 1 | Oct 19, 2023 |
| Bartter disease type 2 | 4 | Jan 27, 2025 |
| Bartter disease type 3 | 8 | Aug 1, 2025 |
| Bartter disease type 4A | 2 | Aug 1, 2025 |
| Basal ganglia calcification, idiopathic, 4 | 1 | Jan 27, 2025 |
| Basal ganglia calcification, idiopathic, 6 | 1 | May 2, 2025 |
| Beck-Fahrner syndrome | 5 | Jun 13, 2024 |
| Becker muscular dystrophy | 4 | Jan 27, 2025 |
| Benign familial hematuria | 2 | Oct 19, 2023 |
| Benign recurrent intrahepatic cholestasis type 1 | 2 | May 2, 2024 |
| Benign recurrent intrahepatic cholestasis type 2 | 3 | May 2, 2024 |
| Bernard Soulier syndrome | 1 | Aug 1, 2025 |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 2 | Aug 1, 2025 |
| Beta-D-mannosidosis | 2 | Sep 5, 2024 |
| Beta-thalassemia HBB/LCRB | 14 | Aug 1, 2025 |
| Bethlem myopathy 1A | 15 | Apr 24, 2025 |
| Bethlem myopathy 2 | 8 | May 2, 2025 |
| Bifunctional peroxisomal enzyme deficiency | 10 | Aug 1, 2025 |
| Bilateral frontoparietal polymicrogyria | 8 | Jan 31, 2025 |
| Bilateral parasagittal parieto-occipital polymicrogyria | 1 | Oct 19, 2023 |
| Bile acid conjugation defect 1 | 1 | Jun 7, 2024 |
| Biotin-responsive basal ganglia disease | 1 | Nov 3, 2023 |
| Biotinidase deficiency | 14 | Aug 1, 2025 |
| Birt-Hogg-Dube syndrome | 1 | Feb 2, 2022 |
| Blau syndrome | 4 | Jan 20, 2025 |
| Blepharocheilodontic syndrome 1 | 1 | Nov 23, 2023 |
| Blepharocheilodontic syndrome 2 | 1 | Feb 2, 2022 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Oct 19, 2023 |
| Blepharophimosis-impaired intellectual development syndrome | 1 | Jan 9, 2023 |
| Bloom syndrome | 4 | Jan 20, 2025 |
| Bone marrow failure syndrome 3 | 3 | Jun 7, 2024 |
| Bone marrow failure syndrome 4 | 2 | Jun 20, 2024 |
| Bone marrow failure syndrome 5 | 1 | Oct 19, 2023 |
| Bone osteosarcoma | 2 | Aug 1, 2025 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Dec 16, 2024 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | May 2, 2025 |
| Braddock-carey syndrome 2 | 1 | Sep 5, 2024 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 1 | Oct 19, 2023 |
| Brain dopamine-serotonin vesicular transport disease | 1 | Oct 27, 2023 |
| Brain malformation renal syndrome | 1 | Jul 28, 2025 |
| Brain small vessel disease 1 with or without ocular anomalies | 6 | Aug 1, 2025 |
| Branchiooculofacial syndrome | 1 | Oct 27, 2023 |
| Branchiootorenal syndrome 1 | 2 | Jan 27, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 42 | Jul 28, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 43 | Aug 1, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 5 | Aug 1, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 8 | Jan 31, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 3 | Dec 31, 2024 |
| Brittle cornea syndrome 2 | 1 | Oct 19, 2023 |
| Brown-Vialetto-van Laere syndrome 1 | 2 | Jan 27, 2025 |
| Brown-Vialetto-van Laere syndrome 2 | 3 | Sep 5, 2024 |
| Bruck syndrome 2 | 2 | Dec 16, 2024 |
| Brugada syndrome 1 | 8 | Sep 5, 2024 |
| Brugada syndrome 4 | 1 | Oct 19, 2023 |
| Brugada syndrome 8 | 1 | Oct 4, 2024 |
| Brugada syndrome 9 | 1 | Oct 19, 2023 |
| Brunet-Wagner neurodevelopmental syndrome | 3 | Dec 16, 2024 |
| C syndrome | 1 | Jan 20, 2025 |
| C1Q deficiency | 2 | Nov 24, 2023 |
| C3 glomerulonephritis | 3 | Dec 31, 2024 |
| CBL-related disorder | 3 | Jan 27, 2025 |
| CCDC115-CDG | 2 | Dec 16, 2024 |
| CFHR5 deficiency | 1 | May 2, 2024 |
| CHARGE syndrome | 10 | Apr 24, 2025 |
| CHEK2-related cancer predisposition | 3 | Sep 5, 2024 |
| COG1 congenital disorder of glycosylation | 1 | Oct 19, 2023 |
| COG5-congenital disorder of glycosylation | 1 | Jun 20, 2024 |
| COG6-congenital disorder of glycosylation | 1 | Jan 20, 2025 |
| Calvarial doughnut lesions-bone fragility syndrome | 1 | May 2, 2025 |
| Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | 1 | Oct 27, 2023 |
| Camptomelic dysplasia | 2 | Jan 27, 2025 |
| Candidiasis, familial, 6 | 1 | Oct 19, 2023 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Jun 7, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 10 | Jan 27, 2025 |
| Cardiac arrhythmia, ankyrin-B-related | 5 | Jan 27, 2025 |
| Cardiac valvular defect, developmental | 1 | Dec 9, 2023 |
| Cardiac valvular dysplasia 2 | 1 | May 2, 2025 |
| Cardiac valvular dysplasia, X-linked | 1 | Nov 16, 2024 |
| Cardiac, facial, and digital anomalies with developmental delay | 3 | Oct 4, 2024 |
| Cardiac-urogenital syndrome | 1 | Jun 7, 2024 |
| Cardioacrofacial dysplasia 1 | 1 | Jan 31, 2025 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 1 | Jan 27, 2025 |
| Cardiofaciocutaneous syndrome 3 | 1 | Sep 5, 2024 |
| Cardiomyopathy, dilated, 2D | 1 | Jan 20, 2025 |
| Cardiomyopathy, dilated, 2F | 1 | Dec 7, 2023 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Oct 4, 2024 |
| Cardiomyopathy, familial hypertrophic 27 | 3 | Dec 12, 2023 |
| Cardiomyopathy, familial hypertrophic, 28 | 1 | Oct 19, 2023 |
| Cardiomyopathy, familial restrictive, 1 | 3 | Jan 27, 2025 |
| Cardiomyopathy, familial restrictive, 6 | 2 | Oct 4, 2024 |
| Carnitine palmitoyl transferase 1A deficiency | 5 | May 2, 2025 |
| Cataract 1 multiple types | 1 | Apr 24, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | May 2, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 2 | 2 | Jun 13, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 2 | May 2, 2024 |
| Catel-Manzke syndrome | 1 | Oct 19, 2023 |
| Central core myopathy | 31 | May 2, 2025 |
| Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | 2 | Sep 5, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 3 | Oct 27, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | 2 | Nov 3, 2023 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | 1 | Aug 1, 2025 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 3 | Jul 28, 2025 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Apr 22, 2024 |
| Cerebellar ataxia-hypogonadism syndrome | 1 | Sep 5, 2024 |
| Cerebellar atrophy with seizures and variable developmental delay | 2 | Dec 12, 2023 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Oct 19, 2023 |
| Cerebellar atrophy, visual impairment, and psychomotor retardation; | 3 | Jan 31, 2025 |
| Cerebellar dysfunction with variable cognitive and behavioral abnormalities | 4 | Jan 27, 2025 |
| Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | 2 | Dec 16, 2024 |
| Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | 2 | Dec 31, 2024 |
| Cerebral amyloid angiopathy, APP-related | 2 | Aug 1, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 3 | Jul 28, 2025 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 1 | Oct 4, 2024 |
| Cerebral folate transport deficiency | 3 | Apr 22, 2024 |
| Cerebral palsy, spastic quadriplegic, 2 | 1 | Oct 19, 2023 |
| Cerebrooculofacioskeletal syndrome 3 | 1 | May 2, 2024 |
| Cerebrooculofacioskeletal syndrome 4 | 1 | Dec 16, 2024 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 5 | Jun 7, 2024 |
| Ceroid lipofuscinosis, neuronal, 6A | 5 | Nov 16, 2024 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Jan 20, 2025 |
| Charcot-Marie-Tooth Disease, axonal, type 2GG | 1 | Jan 27, 2025 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 6 | Jul 11, 2025 |
| Charcot-Marie-Tooth disease axonal type 2F | 1 | Dec 7, 2023 |
| Charcot-Marie-Tooth disease axonal type 2O | 3 | Nov 16, 2024 |
| Charcot-Marie-Tooth disease axonal type 2P | 4 | Jan 27, 2025 |
| Charcot-Marie-Tooth disease axonal type 2Q | 2 | Feb 2, 2022 |
| Charcot-Marie-Tooth disease axonal type 2S | 5 | May 2, 2025 |
| Charcot-Marie-Tooth disease axonal type 2T | 6 | Jun 13, 2024 |
| Charcot-Marie-Tooth disease axonal type 2X | 4 | Oct 4, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Z | 2 | Jun 20, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate B | 4 | Aug 1, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate C | 3 | Jul 28, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate E | 2 | Dec 16, 2024 |
| Charcot-Marie-Tooth disease recessive intermediate A | 2 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate C | 5 | Jan 27, 2025 |
| Charcot-Marie-Tooth disease type 1B | 2 | Aug 1, 2025 |
| Charcot-Marie-Tooth disease type 1E | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 1F | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 2A1 | 2 | Dec 16, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 8 | Nov 16, 2024 |
| Charcot-Marie-Tooth disease type 2B1 | 1 | Jan 20, 2025 |
| Charcot-Marie-Tooth disease type 2E | 1 | Jun 20, 2024 |
| Charcot-Marie-Tooth disease type 2I | 2 | Dec 16, 2024 |
| Charcot-Marie-Tooth disease type 2R | 1 | Dec 16, 2024 |
| Charcot-Marie-Tooth disease type 4A | 2 | Oct 27, 2023 |
| Charcot-Marie-Tooth disease type 4B1 | 2 | Dec 16, 2024 |
| Charcot-Marie-Tooth disease type 4B2 | 3 | Jan 27, 2025 |
| Charcot-Marie-Tooth disease type 4C | 11 | May 2, 2025 |
| Charcot-Marie-Tooth disease type 4D | 1 | Feb 2, 2022 |
| Charcot-Marie-Tooth disease type 4E | 1 | Jun 7, 2024 |
| Charcot-Marie-Tooth disease type 4G | 1 | Oct 19, 2023 |
| Charcot-Marie-Tooth disease type 4H | 1 | Jan 20, 2025 |
| Charcot-Marie-Tooth disease type 4J | 3 | Sep 5, 2024 |
| Charcot-Marie-Tooth disease type 4K | 1 | Dec 12, 2023 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 | May 18, 2024 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | May 2, 2024 |
| Charcot-Marie-Tooth disease, demyelinating, IIA 1I | 1 | Nov 24, 2023 |
| Charcot-Marie-Tooth disease, type IA | 3 | Oct 19, 2023 |
| Charcot-Marie-tooth disease, axonal, type 2DD | 2 | Dec 9, 2023 |
| Charlevoix-Saguenay spastic ataxia | 13 | May 2, 2025 |
| Childhood apraxia of speech | 3 | Aug 1, 2025 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 1 | Feb 2, 2022 |
| Childhood onset GLUT1 deficiency syndrome 2 | 2 | Oct 4, 2024 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Sep 5, 2024 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 4 | Jan 27, 2025 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 1 | Jan 20, 2025 |
| Cholestanol storage disease | 4 | Oct 4, 2024 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 | Jan 27, 2025 |
| Cholestasis, progressive familial intrahepatic, 10 | 5 | Dec 16, 2024 |
| Cholestasis, progressive familial intrahepatic, 4 | 8 | Aug 1, 2025 |
| Cholestasis, progressive familial intrahepatic, 5 | 1 | Jun 7, 2024 |
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 9 | Aug 1, 2025 |
| Cholestasis, progressive familial intrahepatic, 9 | 1 | Dec 16, 2024 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 2 | Jan 27, 2025 |
| Cholesteryl ester storage disease | 2 | Dec 16, 2024 |
| Chondrodysplasia punctata 2 X-linked dominant | 2 | Oct 19, 2023 |
| Chorea-acanthocytosis | 13 | Feb 11, 2025 |
| Christianson syndrome | 3 | Jan 20, 2025 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Jul 11, 2025 |
| Chronic atrial and intestinal dysrhythmia | 1 | Jul 28, 2025 |
| Chudley-McCullough syndrome | 1 | Nov 16, 2024 |
| Chylomicron retention disease | 1 | Jun 2, 2021 |
| Chédiak-Higashi syndrome | 4 | May 2, 2024 |
| Ciliary dyskinesia, primary, 37 | 2 | Sep 5, 2024 |
| Ciliary dyskinesia, primary, 40 | 4 | Nov 16, 2024 |
| Ciliary dyskinesia, primary, 42 | 1 | Oct 19, 2023 |
| Ciliary dyskinesia, primary, 43 | 1 | Dec 16, 2024 |
| Ciliary dyskinesia, primary, 44 | 2 | May 2, 2024 |
| Citrullinemia type I | 4 | May 2, 2025 |
| Clark-Baraitser syndrome | 4 | Nov 16, 2024 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 6 | Aug 1, 2025 |
| Classic dopamine transporter deficiency syndrome | 2 | Dec 16, 2024 |
| Classic homocystinuria | 8 | Jan 27, 2025 |
| Cobalamin C disease | 6 | Nov 16, 2024 |
| Cobblestone lissencephaly without muscular or ocular involvement | 3 | Dec 16, 2024 |
| Cockayne syndrome type 1 | 1 | May 2, 2024 |
| Cockayne syndrome type 2 | 6 | Jan 31, 2025 |
| Coenzyme Q10 deficiency, primary, 1 | 1 | Oct 19, 2023 |
| Coffin-Siris syndrome 1 | 8 | Jan 27, 2025 |
| Coffin-Siris syndrome 12 | 2 | May 2, 2024 |
| Coffin-Siris syndrome 5 | 1 | Dec 16, 2024 |
| Coffin-Siris syndrome 6 | 1 | Jan 9, 2023 |
| Coffin-Siris syndrome 8 | 1 | Nov 16, 2024 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 2 | Jan 20, 2025 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Oct 27, 2023 |
| Cohen syndrome | 5 | Dec 16, 2024 |
| Cold-induced sweating syndrome 1 | 1 | Jan 20, 2025 |
| Colorectal cancer | 2 | Oct 4, 2024 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 15 | Jan 20, 2025 |
| Colorectal cancer, hereditary nonpolyposis, type 7 | 1 | Jun 7, 2024 |
| Colorectal cancer, susceptibility to, 1 | 2 | May 2, 2025 |
| Colorectal cancer, susceptibility to, 10 | 3 | Jun 13, 2024 |
| Colorectal cancer, susceptibility to, 12 | 10 | Feb 11, 2025 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 2 | May 2, 2024 |
| Combined immunodeficiency due to DOCK8 deficiency | 12 | Sep 5, 2024 |
| Combined immunodeficiency due to LRBA deficiency | 15 | Feb 11, 2025 |
| Combined immunodeficiency due to MALT1 deficiency | 1 | May 2, 2024 |
| Combined immunodeficiency due to ORAI1 deficiency | 1 | Jun 13, 2024 |
| Combined immunodeficiency due to ZAP70 deficiency | 1 | Feb 11, 2025 |
| Combined malonic and methylmalonic acidemia | 1 | Jun 7, 2024 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 | May 2, 2024 |
| Combined oxidative phosphorylation defect type 11 | 2 | Oct 4, 2024 |
| Combined oxidative phosphorylation defect type 13 | 2 | Oct 19, 2023 |
| Combined oxidative phosphorylation defect type 20 | 1 | Nov 23, 2023 |
| Combined oxidative phosphorylation defect type 21 | 2 | Jun 7, 2024 |
| Combined oxidative phosphorylation defect type 23 | 2 | Jan 20, 2025 |
| Combined oxidative phosphorylation defect type 24 | 3 | May 2, 2025 |
| Combined oxidative phosphorylation defect type 27 | 2 | Nov 16, 2024 |
| Combined oxidative phosphorylation defect type 4 | 1 | May 2, 2025 |
| Combined oxidative phosphorylation defect type 9 | 1 | Sep 5, 2024 |
| Combined oxidative phosphorylation deficiency 33 | 1 | Aug 1, 2025 |
| Combined oxidative phosphorylation deficiency 35 | 7 | Jan 27, 2025 |
| Combined oxidative phosphorylation deficiency 36 | 2 | Nov 16, 2024 |
| Combined oxidative phosphorylation deficiency 39 | 1 | May 2, 2024 |
| Combined oxidative phosphorylation deficiency 40 | 1 | Jun 7, 2024 |
| Combined oxidative phosphorylation deficiency 44 | 1 | Oct 19, 2023 |
| Combined oxidative phosphorylation deficiency 55 | 4 | Jan 27, 2025 |
| Combined oxidative phosphorylation deficiency 56 | 1 | Jan 20, 2025 |
| Complement component 5 deficiency | 2 | Dec 16, 2024 |
| Complement component 6 deficiency | 3 | Aug 1, 2025 |
| Complement component 7 deficiency | 1 | Dec 16, 2024 |
| Complex cortical dysplasia with other brain malformations 1 | 3 | Jul 28, 2025 |
| Complex cortical dysplasia with other brain malformations 2 | 4 | Dec 16, 2024 |
| Complex cortical dysplasia with other brain malformations 3 | 2 | May 2, 2024 |
| Complex cortical dysplasia with other brain malformations 4 | 1 | May 2, 2025 |
| Complex cortical dysplasia with other brain malformations 5 | 2 | Feb 2, 2022 |
| Conduction disorder of the heart | 1 | Oct 19, 2023 |
| Cone dystrophy with supernormal rod response | 1 | Jul 28, 2025 |
| Cone-rod dystrophy 13 | 2 | Aug 1, 2025 |
| Cone-rod dystrophy 18 | 1 | May 2, 2024 |
| Cone-rod dystrophy and hearing loss 2 | 1 | Nov 16, 2024 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 | Oct 27, 2023 |
| Congenital adrenal hypoplasia, X-linked | 3 | Oct 19, 2023 |
| Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 1 | Nov 16, 2024 |
| Congenital afibrinogenemia | 3 | Nov 16, 2024 |
| Congenital amegakaryocytic thrombocytopenia | 1 | Oct 19, 2023 |
| Congenital amegakaryocytic thrombocytopenia 1 | 3 | Jan 20, 2025 |
| Congenital anomalies of kidney and urinary tract 3 | 3 | Oct 4, 2024 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 1 | Sep 5, 2024 |
| Congenital bile acid synthesis defect 1 | 3 | Jun 20, 2024 |
| Congenital bile acid synthesis defect 2 | 4 | Jan 20, 2025 |
| Congenital bile acid synthesis defect 3 | 1 | Oct 19, 2023 |
| Congenital bile acid synthesis defect 6 | 3 | Feb 11, 2025 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Oct 27, 2023 |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 1 | Jan 9, 2023 |
| Congenital contractural arachnodactyly | 8 | May 2, 2025 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 5 | Sep 5, 2024 |
| Congenital defect of folate absorption | 1 | Dec 16, 2024 |
| Congenital diarrhea 5 with tufting enteropathy | 3 | Nov 16, 2024 |
| Congenital diarrhea 7 with exudative enteropathy | 1 | Feb 2, 2022 |
| Congenital disorder of deglycosylation 1 | 1 | Oct 19, 2023 |
| Congenital disorder of deglycosylation 2 | 1 | Jan 20, 2025 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 2 | May 2, 2025 |
| Congenital disorder of glycosylation, type iit | 1 | Jul 28, 2025 |
| Congenital dyserythropoietic anemia type 4 | 3 | Jun 7, 2024 |
| Congenital dyserythropoietic anemia, type II | 5 | Aug 1, 2025 |
| Congenital factor V deficiency | 2 | Dec 16, 2024 |
| Congenital factor VII deficiency | 4 | Nov 16, 2024 |
| Congenital generalized lipodystrophy type 1 | 4 | May 2, 2024 |
| Congenital generalized lipodystrophy type 2 | 2 | Nov 16, 2024 |
| Congenital generalized lipodystrophy type 4 | 1 | Jun 13, 2024 |
| Congenital glucose-galactose malabsorption | 1 | Sep 5, 2024 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 7 | Aug 1, 2025 |
| Congenital hereditary endothelial dystrophy of cornea | 3 | Sep 5, 2024 |
| Congenital hyperammonemia, type I | 1 | Oct 19, 2023 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2 | Dec 16, 2024 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 4 | Jan 20, 2025 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 2 | Aug 1, 2025 |
| Congenital microvillous atrophy | 5 | May 2, 2025 |
| Congenital multicore myopathy with external ophthalmoplegia | 9 | May 2, 2025 |
| Congenital muscular dystrophy due to LMNA mutation | 2 | Dec 7, 2023 |
| Congenital muscular dystrophy with cataracts and intellectual disability | 1 | Nov 23, 2023 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Feb 2, 2022 |
| Congenital myasthenic syndrome 10 | 3 | Oct 4, 2024 |
| Congenital myasthenic syndrome 11 | 1 | Dec 16, 2024 |
| Congenital myasthenic syndrome 12 | 2 | Dec 9, 2023 |
| Congenital myasthenic syndrome 19 | 2 | Jan 20, 2025 |
| Congenital myasthenic syndrome 1A | 2 | Oct 19, 2023 |
| Congenital myasthenic syndrome 2A | 2 | Dec 16, 2024 |
| Congenital myasthenic syndrome 2C | 1 | Oct 19, 2023 |
| Congenital myasthenic syndrome 3B | 1 | Oct 19, 2023 |
| Congenital myasthenic syndrome 4A | 1 | Oct 19, 2023 |
| Congenital myasthenic syndrome 4B | 3 | Dec 9, 2023 |
| Congenital myasthenic syndrome 4C | 1 | Nov 3, 2023 |
| Congenital myasthenic syndrome 5 | 2 | Dec 7, 2023 |
| Congenital myasthenic syndrome 8 | 8 | Jan 27, 2025 |
| Congenital myasthenic syndrome 9 | 1 | Oct 19, 2023 |
| Congenital myopathy 18 | 1 | Jan 20, 2025 |
| Congenital myopathy 22B, severe fetal | 2 | Aug 1, 2025 |
| Congenital myopathy 23 | 2 | Oct 27, 2023 |
| Congenital myopathy 2b, severe infantile, autosomal recessive | 1 | Sep 5, 2024 |
| Congenital myopathy 4A, autosomal dominant | 5 | Aug 1, 2025 |
| Congenital myopathy 4B, autosomal recessive | 1 | Oct 19, 2023 |
| Congenital myotonia, autosomal dominant form | 3 | May 2, 2025 |
| Congenital myotonia, autosomal recessive form | 17 | Aug 1, 2025 |
| Congenital primary aphakia | 2 | Sep 5, 2024 |
| Congenital secretory diarrhea, chloride type | 3 | Jan 27, 2025 |
| Congenital stationary night blindness 1B | 3 | Nov 16, 2024 |
| Congenital stationary night blindness 1C | 1 | Feb 2, 2022 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 1 | Oct 4, 2024 |
| Corneal dystrophy, Fuchs endothelial, 3 | 1 | Nov 24, 2023 |
| Corneal dystrophy, Fuchs endothelial, 8 | 1 | Dec 7, 2023 |
| Corneal dystrophy, posterior polymorphous, 4 | 1 | May 2, 2025 |
| Cornelia de Lange syndrome 1 | 6 | Jul 28, 2025 |
| Cornelia de Lange syndrome 3 | 1 | May 2, 2024 |
| Cortical dysplasia, complex, with other brain malformations 10 | 4 | Jan 27, 2025 |
| Cortical dysplasia, complex, with other brain malformations 11 | 1 | May 2, 2024 |
| Cortical dysplasia-focal epilepsy syndrome | 3 | Oct 4, 2024 |
| Costello syndrome | 2 | Jun 20, 2024 |
| Cowden syndrome 1 | 4 | Aug 1, 2025 |
| Cowden syndrome 6 | 1 | Oct 19, 2023 |
| Cowden syndrome 7 | 2 | Jan 20, 2025 |
| Coxopodopatellar syndrome | 1 | Jan 27, 2025 |
| Cranioectodermal dysplasia 1 | 3 | Jan 31, 2025 |
| Cranioectodermal dysplasia 2 | 3 | Jan 27, 2025 |
| Craniofacial microsomia 1 | 1 | Jan 20, 2025 |
| Craniolenticulosutural dysplasia | 2 | Jan 20, 2025 |
| Craniometaphyseal dysplasia, autosomal dominant | 1 | Dec 16, 2024 |
| Craniosynostosis 4 | 1 | Dec 16, 2024 |
| Craniotubular dysplasia, Ikegawa type | 1 | Jan 27, 2025 |
| Crigler-Najjar syndrome type 1 | 6 | Jan 20, 2025 |
| Crigler-Najjar syndrome, type II | 5 | Jan 20, 2025 |
| Crouzon syndrome | 1 | Oct 4, 2024 |
| Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 1 | Oct 19, 2023 |
| Cutaneous mastocytosis | 1 | May 2, 2024 |
| Cutaneous porphyria | 1 | Dec 12, 2023 |
| Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 2 | May 2, 2024 |
| Cutis laxa, autosomal dominant 1 | 1 | Jan 27, 2025 |
| Cutis laxa, autosomal recessive, type 2E | 1 | Dec 16, 2024 |
| Cyclical neutropenia | 1 | Jan 20, 2025 |
| Cystic fibrosis | 44 | May 2, 2025 |
| Cystic leukoencephalopathy without megalencephaly | 1 | Dec 16, 2024 |
| Cystinuria | 5 | Nov 16, 2024 |
| D,L-2-hydroxyglutaric aciduria | 1 | Dec 12, 2023 |
| DDX41-related hematologic malignancy predisposition syndrome | 1 | Nov 16, 2024 |
| DEGCAGS syndrome | 1 | Jan 9, 2023 |
| DNA ligase IV deficiency | 1 | Jul 28, 2025 |
| DOCK2 deficiency | 1 | Oct 19, 2023 |
| DOORS syndrome | 1 | Feb 2, 2022 |
| DYRK1A-related intellectual disability syndrome | 7 | Jan 27, 2025 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Dec 24, 2024 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | May 2, 2025 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 8 | Jul 11, 2025 |
| Deficiency of acetyl-CoA acetyltransferase | 6 | Apr 24, 2025 |
| Deficiency of alpha-mannosidase | 4 | Jan 31, 2025 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 3 | Apr 24, 2025 |
| Deficiency of bisphosphoglycerate mutase | 1 | Sep 5, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 3 | Aug 1, 2025 |
| Deficiency of butyrylcholinesterase | 3 | Dec 12, 2023 |
| Deficiency of cytochrome-b5 reductase | 4 | Apr 24, 2025 |
| Deficiency of ferroxidase | 2 | Oct 4, 2024 |
| Deficiency of guanidinoacetate methyltransferase | 2 | Dec 16, 2024 |
| Deficiency of hydroxymethylglutaryl-CoA lyase | 2 | Jan 20, 2025 |
| Deficiency of iodide peroxidase | 1 | Oct 27, 2023 |
| Deficiency of malonyl-CoA decarboxylase | 1 | Oct 4, 2024 |
| Deficiency of steroid 11-beta-monooxygenase | 2 | Oct 27, 2023 |
| Deficiency of steroid 17-alpha-monooxygenase | 3 | Aug 1, 2025 |
| Deficiency of transaldolase | 2 | Oct 4, 2024 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 8 | Jan 27, 2025 |
| Dejerine-Sottas disease | 1 | Jun 13, 2024 |
| Delpire-McNeill syndrome | 4 | Aug 1, 2025 |
| Dent disease type 1 | 2 | Oct 27, 2023 |
| Dent disease type 2 | 2 | Sep 5, 2024 |
| Dermatitis, atopic | 1 | Jun 7, 2024 |
| Dermatofibrosis lenticularis disseminata | 1 | Jan 27, 2025 |
| Desbuquois dysplasia 2 | 1 | Oct 19, 2023 |
| Desmin-related myofibrillar myopathy | 4 | May 2, 2024 |
| Developmental and epileptic encephalopathy 100 | 1 | Nov 16, 2024 |
| Developmental and epileptic encephalopathy 103 | 2 | May 2, 2025 |
| Developmental and epileptic encephalopathy 104 | 2 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy 106 | 1 | May 2, 2025 |
| Developmental and epileptic encephalopathy 108 | 3 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy 6B | 11 | Aug 1, 2025 |
| Developmental and epileptic encephalopathy 89 | 1 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy 91 | 2 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy 92 | 2 | Jan 20, 2025 |
| Developmental and epileptic encephalopathy 93 | 3 | Jan 20, 2025 |
| Developmental and epileptic encephalopathy 94 | 11 | Aug 1, 2025 |
| Developmental and epileptic encephalopathy 97 | 1 | Nov 16, 2024 |
| Developmental and epileptic encephalopathy 98 | 4 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy 99 | 3 | Dec 16, 2024 |
| Developmental and epileptic encephalopathy, 1 | 6 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 11 | 27 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 12 | 4 | Sep 5, 2024 |
| Developmental and epileptic encephalopathy, 13 | 10 | Dec 16, 2024 |
| Developmental and epileptic encephalopathy, 14 | 13 | Apr 24, 2025 |
| Developmental and epileptic encephalopathy, 15 | 2 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 16 | 3 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 17 | 1 | Sep 5, 2024 |
| Developmental and epileptic encephalopathy, 18 | 11 | Aug 1, 2025 |
| Developmental and epileptic encephalopathy, 2 | 12 | Apr 24, 2025 |
| Developmental and epileptic encephalopathy, 23 | 5 | Jan 20, 2025 |
| Developmental and epileptic encephalopathy, 24 | 4 | Sep 5, 2024 |
| Developmental and epileptic encephalopathy, 26 | 8 | Aug 1, 2025 |
| Developmental and epileptic encephalopathy, 27 | 12 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 28 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 29 | 4 | Dec 9, 2023 |
| Developmental and epileptic encephalopathy, 3 | 3 | Oct 4, 2024 |
| Developmental and epileptic encephalopathy, 30 | 7 | Jul 11, 2025 |
| Developmental and epileptic encephalopathy, 31A | 9 | Aug 1, 2025 |
| Developmental and epileptic encephalopathy, 32 | 3 | Sep 5, 2024 |
| Developmental and epileptic encephalopathy, 33 | 2 | Dec 16, 2024 |
| Developmental and epileptic encephalopathy, 35 | 1 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 36 | 5 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 38 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 39 | 3 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 4 | 14 | Aug 1, 2025 |
| Developmental and epileptic encephalopathy, 41 | 4 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 42 | 19 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 44 | 1 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 45 | 2 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 46 | 11 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 47 | 3 | Nov 16, 2024 |
| Developmental and epileptic encephalopathy, 48 | 1 | Jan 20, 2025 |
| Developmental and epileptic encephalopathy, 5 | 6 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 50 | 2 | Oct 4, 2024 |
| Developmental and epileptic encephalopathy, 52 | 1 | Dec 7, 2023 |
| Developmental and epileptic encephalopathy, 54 | 2 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 57 | 3 | Jun 20, 2024 |
| Developmental and epileptic encephalopathy, 58 | 1 | Jan 9, 2023 |
| Developmental and epileptic encephalopathy, 59 | 3 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 62 | 5 | Jan 20, 2025 |
| Developmental and epileptic encephalopathy, 63 | 2 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 64 | 13 | May 2, 2025 |
| Developmental and epileptic encephalopathy, 65 | 2 | Sep 5, 2024 |
| Developmental and epileptic encephalopathy, 66 | 7 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 67 | 5 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 69 | 9 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 7 | 16 | Nov 16, 2024 |
| Developmental and epileptic encephalopathy, 70 | 3 | Jan 20, 2025 |
| Developmental and epileptic encephalopathy, 72 | 2 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 73 | 2 | Aug 1, 2025 |
| Developmental and epileptic encephalopathy, 75 | 1 | Oct 19, 2023 |
| Developmental and epileptic encephalopathy, 76 | 3 | Jan 20, 2025 |
| Developmental and epileptic encephalopathy, 77 | 1 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 78 | 1 | Jun 7, 2024 |
| Developmental and epileptic encephalopathy, 79 | 3 | Dec 16, 2024 |
| Developmental and epileptic encephalopathy, 8 | 1 | Sep 5, 2024 |
| Developmental and epileptic encephalopathy, 81 | 1 | Jan 27, 2023 |
| Developmental and epileptic encephalopathy, 83 | 2 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 84 | 1 | Oct 4, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 3 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 87 | 2 | May 2, 2024 |
| Developmental and epileptic encephalopathy, 9 | 10 | Jan 27, 2025 |
| Developmental and epileptic encephalopathy, 90 | 2 | Sep 5, 2024 |
| Developmental delay and seizures with or without movement abnormalities | 1 | Dec 16, 2024 |
| Developmental delay with autism spectrum disorder and gait instability | 5 | Feb 11, 2025 |
| Developmental delay with dysmorphic facies and dental anomalies | 3 | Jul 11, 2025 |
| Developmental delay with or without dysmorphic facies and autism | 10 | Dec 16, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 2 | Jan 27, 2025 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | 1 | Dec 7, 2023 |
| Developmental delay with variable intellectual disability and dysmorphic facies | 1 | Oct 4, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 14 | Feb 11, 2025 |
| Developmental delay with variable neurologic and brain abnormalities | 5 | Dec 16, 2024 |
| Developmental delay, hypotonia, and impaired language | 2 | Nov 16, 2024 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 3 | Oct 4, 2024 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 3 | Jan 27, 2025 |
| Developmental delay, impaired speech, and behavioral abnormalities | 11 | Aug 1, 2025 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 7 | Jan 20, 2025 |
| Diabetes insipidus, nephrogenic, autosomal | 2 | Nov 16, 2024 |
| Diabetes mellitus, permanent neonatal 2 | 2 | Oct 19, 2023 |
| Diabetes mellitus, transient neonatal, 2 | 2 | Dec 7, 2023 |
| Diamond-Blackfan anemia 1 | 4 | Oct 4, 2024 |
| Diamond-Blackfan anemia 3 | 2 | Oct 19, 2023 |
| Diaphanospondylodysostosis | 1 | Dec 31, 2024 |
| Diaphyseal dysplasia | 1 | Oct 19, 2023 |
| Diarrhea 10, protein-losing enteropathy type | 1 | May 2, 2024 |
| Dias-Logan syndrome | 2 | Nov 16, 2024 |
| Diastrophic dysplasia | 1 | Oct 19, 2023 |
| Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | Dec 24, 2024 |
| Diets-Jongmans syndrome | 3 | Feb 11, 2025 |
| Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | 1 | May 2, 2025 |
| Dihydropteridine reductase deficiency | 1 | Oct 19, 2023 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | May 2, 2025 |
| Dilated cardiomyopathy 1CC | 1 | Oct 19, 2023 |
| Dilated cardiomyopathy 1D | 3 | Jan 20, 2025 |
| Dilated cardiomyopathy 1DD | 2 | Aug 1, 2025 |
| Dilated cardiomyopathy 1E | 2 | Jun 7, 2024 |
| Dilated cardiomyopathy 1G | 3 | Apr 24, 2025 |
| Dilated cardiomyopathy 1HH | 1 | Apr 24, 2025 |
| Dilated cardiomyopathy 1I | 1 | Dec 7, 2023 |
| Dilated cardiomyopathy 1J | 1 | Dec 16, 2024 |
| Dilated cardiomyopathy 1JJ | 5 | Jun 20, 2024 |
| Dilated cardiomyopathy 1KK | 1 | Nov 16, 2024 |
| Dilated cardiomyopathy 1NN | 1 | Feb 2, 2022 |
| Dilated cardiomyopathy 1O | 2 | Jun 7, 2024 |
| Dilated cardiomyopathy 1S | 5 | Aug 1, 2025 |
| Dilated cardiomyopathy 1V | 1 | Feb 2, 2022 |
| Dilated cardiomyopathy 1Y | 1 | Jan 27, 2025 |
| Dilated cardiomyopathy 1Z | 1 | Oct 19, 2023 |
| Dilated cardiomyopathy 2A | 2 | Aug 1, 2025 |
| Distal arthrogryposis type 2B1 | 1 | Aug 1, 2025 |
| Distal arthrogryposis type 5D | 2 | May 2, 2024 |
| Distal myopathy with posterior leg and anterior hand involvement | 1 | Oct 19, 2023 |
| Dominant beta-thalassemia | 1 | Dec 16, 2024 |
| Donnai-Barrow syndrome | 8 | Dec 16, 2024 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 2 | Jan 20, 2025 |
| Drash syndrome | 2 | Oct 19, 2023 |
| Duane-radial ray syndrome | 1 | Jun 7, 2024 |
| Dubin-Johnson syndrome | 10 | Jan 20, 2025 |
| Duchenne muscular dystrophy | 33 | Aug 1, 2025 |
| Dyggve-Melchior-Clausen syndrome | 3 | Jan 20, 2025 |
| Dyskeratosis congenita, X-linked | 2 | May 2, 2025 |
| Dyskeratosis congenita, autosomal dominant 2 | 5 | Dec 16, 2024 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Jun 20, 2024 |
| Dyskeratosis congenita, autosomal dominant 6 | 2 | Jun 20, 2024 |
| Dyskeratosis congenita, autosomal recessive 5 | 10 | Jan 20, 2025 |
| Dyskeratosis congenita, autosomal recessive 6 | 2 | Sep 5, 2024 |
| Dyskinesia with orofacial involvement, autosomal dominant | 3 | Dec 7, 2023 |
| Dystonia 12 | 1 | Oct 19, 2023 |
| Dystonia 16 | 2 | Oct 27, 2023 |
| Dystonia 24 | 2 | Jan 20, 2025 |
| Dystonia 28, childhood-onset | 4 | Jan 20, 2025 |
| Dystonia 30 | 1 | Jan 20, 2025 |
| Dystonia 31 | 1 | Dec 16, 2024 |
| Dystonia 33 | 1 | Nov 24, 2023 |
| Dystonia 34, myoclonic | 2 | Jan 31, 2025 |
| Dystonia 5 | 2 | Aug 1, 2025 |
| Dystonia 9 | 2 | Oct 19, 2023 |
| EAST syndrome | 4 | Jan 27, 2025 |
| Early-onset Parkinson disease 20 | 1 | Oct 19, 2023 |
| Early-onset generalized limb-onset dystonia | 2 | Jan 27, 2025 |
| Early-onset myopathy with fatal cardiomyopathy | 5 | May 2, 2025 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 3 | Dec 7, 2023 |
| Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 6 | Jan 31, 2025 |
| Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 1 | Dec 12, 2023 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 2 | Jan 20, 2025 |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 2 | Jul 28, 2025 |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 1 | Oct 19, 2023 |
| Ectopia lentis 1, isolated, autosomal dominant | 1 | Jan 20, 2025 |
| Ectopia lentis et pupillae | 2 | Apr 24, 2025 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 2 | May 2, 2025 |
| Ehlers-Danlos syndrome, arthrochalasia type | 2 | Jan 20, 2025 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 1 | Apr 24, 2025 |
| Ehlers-Danlos syndrome, cardiac valvular type | 1 | Oct 27, 2023 |
| Ehlers-Danlos syndrome, classic type, 1 | 4 | Jun 13, 2024 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Feb 2, 2022 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 4 | Jun 7, 2024 |
| Ehlers-Danlos syndrome, periodontal type 1 | 1 | May 2, 2025 |
| Ehlers-Danlos syndrome, periodontal type 2 | 2 | Jan 20, 2025 |
| Ehlers-Danlos syndrome, type 4 | 3 | Apr 24, 2025 |
| Eichsfeld type congenital muscular dystrophy | 2 | Dec 24, 2024 |
| Elliptocytosis 1 | 3 | Sep 5, 2024 |
| Elliptocytosis 2 | 4 | Dec 9, 2023 |
| Ellis-van Creveld syndrome | 5 | Jan 20, 2025 |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 2 | May 2, 2024 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 | Sep 5, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 9 | May 2, 2025 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 8 | Jan 27, 2025 |
| Encephalopathy due to GLUT1 deficiency | 3 | Nov 3, 2023 |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 3 | Jul 28, 2025 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 1 | Feb 2, 2022 |
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | Aug 1, 2025 |
| Endometrial carcinoma | 6 | Sep 5, 2024 |
| Enhanced S-cone syndrome | 1 | Oct 19, 2023 |
| Enterokinase deficiency | 2 | Dec 12, 2023 |
| Epicanthus | 1 | Feb 2, 2022 |
| Epidermolysis bullosa pruriginosa | 5 | Jan 20, 2025 |
| Epidermolysis bullosa simplex 1A, generalized severe | 2 | Oct 27, 2023 |
| Epidermolysis bullosa simplex 1C, localized | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 2 | Jan 20, 2025 |
| Epidermolysis bullosa simplex 2B, generalized intermediate | 1 | Oct 4, 2024 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 3 | Oct 4, 2024 |
| Epidermolysis bullosa simplex 7, with nephropathy and deafness | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex due to plakophilin deficiency | 1 | Feb 2, 2022 |
| Epidermolysis bullosa simplex with nail dystrophy | 4 | Nov 24, 2023 |
| Epidermolysis bullosa simplex, Koebner type | 1 | Feb 2, 2022 |
| Epidermolysis bullosa, junctional 2A, intermediate | 2 | May 2, 2024 |
| Epidermolysis bullosa, junctional 2B, severe | 1 | Nov 16, 2024 |
| Epidermolysis bullosa, junctional 3B, severe | 1 | Jun 7, 2024 |
| Epidermolysis bullosa, junctional 4, intermediate | 7 | Jan 27, 2025 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Dec 24, 2024 |
| Epidermolytic ichthyosis | 1 | Feb 2, 2022 |
| Epidermolytic palmoplantar keratoderma, 1 | 1 | Oct 4, 2024 |
| Epilepsy with myoclonic atonic seizures | 3 | May 2, 2024 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Oct 19, 2023 |
| Epilepsy, childhood absence, susceptibility to, 6 | 2 | Jan 27, 2025 |
| Epilepsy, early-onset, vitamin B6-dependent | 2 | May 2, 2024 |
| Epilepsy, early-onset, with or without developmental delay | 4 | Jan 27, 2025 |
| Epilepsy, familial focal, with variable foci 1 | 19 | Jan 20, 2025 |
| Epilepsy, familial focal, with variable foci 2 | 4 | Jun 7, 2024 |
| Epilepsy, familial focal, with variable foci 3 | 2 | May 2, 2024 |
| Epilepsy, familial focal, with variable foci 4 | 4 | Aug 1, 2025 |
| Epilepsy, familial temporal lobe, 1 | 2 | Jan 27, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 | Jan 9, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Jan 9, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Oct 4, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 17 | 1 | Aug 1, 2025 |
| Epilepsy, idiopathic generalized, susceptibility to, 18 | 2 | May 2, 2025 |
| Epilepsy, progressive myoclonic, 11 | 1 | Dec 16, 2024 |
| Episodic ataxia type 2 | 4 | Aug 1, 2025 |
| Episodic kinesigenic dyskinesia 1 | 2 | May 2, 2024 |
| Epithelial recurrent erosion dystrophy | 1 | Jan 27, 2025 |
| Erythrocytosis, familial, 3 | 1 | Oct 19, 2023 |
| Erythrocytosis, familial, 4 | 2 | Nov 16, 2024 |
| Erythrocytosis, familial, 6 | 2 | May 2, 2024 |
| Ethylmalonic encephalopathy | 7 | May 2, 2025 |
| Exostoses, multiple, type 1 | 5 | Aug 1, 2025 |
| Exostoses, multiple, type 2 | 1 | Oct 19, 2023 |
| FADD-related immunodeficiency | 1 | Dec 24, 2024 |
| FG syndrome 1 | 1 | Aug 1, 2025 |
| FG syndrome 2 | 1 | Nov 3, 2023 |
| FG syndrome 4 | 5 | Jan 27, 2025 |
| FRAXE | 1 | Oct 4, 2024 |
| Fabry disease | 2 | Jan 20, 2025 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 3 | May 2, 2025 |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 1 | May 2, 2024 |
| Factor H deficiency | 3 | Jan 27, 2025 |
| Factor I deficiency | 1 | Jun 7, 2024 |
| Factor V and factor VIII, combined deficiency of, type 1 | 1 | Aug 1, 2025 |
| Factor XIII, A subunit, deficiency of | 1 | Oct 19, 2023 |
| Familial Mediterranean fever | 7 | Jul 28, 2025 |
| Familial Mediterranean fever, autosomal dominant | 2 | Dec 16, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 11 | Aug 1, 2025 |
| Familial acute necrotizing encephalopathy | 2 | Aug 1, 2025 |
| Familial adenomatous polyposis 1 | 12 | Feb 11, 2025 |
| Familial adenomatous polyposis 2 | 4 | Jul 28, 2025 |
| Familial adenomatous polyposis 3 | 2 | Aug 1, 2025 |
| Familial adenomatous polyposis 4 | 1 | Oct 19, 2023 |
| Familial amyloid nephropathy with urticaria AND deafness | 1 | Oct 19, 2023 |
| Familial apolipoprotein C-II deficiency | 2 | Aug 1, 2025 |
| Familial benign pemphigus | 1 | Aug 1, 2025 |
| Familial cancer of breast | 68 | Aug 1, 2025 |
| Familial cold autoinflammatory syndrome 2 | 4 | May 2, 2025 |
| Familial cold autoinflammatory syndrome 4 | 3 | Dec 16, 2024 |
| Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 1 | Jan 20, 2025 |
| Familial hemophagocytic lymphohistiocytosis 2 | 7 | Jan 27, 2025 |
| Familial hemophagocytic lymphohistiocytosis 3 | 6 | May 2, 2025 |
| Familial hemophagocytic lymphohistiocytosis 5 | 4 | Apr 24, 2025 |
| Familial hemophagocytic lymphohistiocytosis type 1 | 1 | Dec 16, 2024 |
| Familial hyperaldosteronism type II | 1 | Oct 19, 2023 |
| Familial hypocalciuric hypercalcemia 1 | 1 | Dec 7, 2023 |
| Familial hypokalemia-hypomagnesemia | 9 | Nov 16, 2024 |
| Familial idiopathic hypercalciuria | 5 | Aug 1, 2025 |
| Familial infantile myasthenia | 3 | Sep 5, 2024 |
| Familial isolated congenital asplenia | 1 | Dec 7, 2023 |
| Familial isolated deficiency of vitamin E | 1 | Aug 1, 2025 |
| Familial juvenile hyperuricemic nephropathy type 1 | 5 | Sep 5, 2024 |
| Familial juvenile hyperuricemic nephropathy type 2 | 1 | Feb 2, 2022 |
| Familial medullary thyroid carcinoma | 2 | Oct 4, 2024 |
| Familial partial lipodystrophy, Dunnigan type | 3 | Oct 19, 2023 |
| Familial porphyria cutanea tarda | 2 | Jan 27, 2025 |
| Familial pulmonary capillary hemangiomatosis | 1 | Oct 19, 2023 |
| Familial renal glucosuria | 2 | Jan 27, 2025 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | May 2, 2025 |
| Familial temporal lobe epilepsy 5 | 5 | May 2, 2025 |
| Familial temporal lobe epilepsy 7 | 2 | Dec 7, 2023 |
| Fanconi anemia complementation group A | 27 | Aug 1, 2025 |
| Fanconi anemia complementation group B | 1 | Jun 13, 2024 |
| Fanconi anemia complementation group C | 3 | Oct 27, 2023 |
| Fanconi anemia complementation group D1 | 2 | Oct 19, 2023 |
| Fanconi anemia complementation group G | 4 | Jan 20, 2025 |
| Fanconi anemia complementation group I | 6 | Dec 24, 2024 |
| Fanconi anemia complementation group J | 2 | Oct 19, 2023 |
| Fanconi anemia complementation group L | 4 | Dec 16, 2024 |
| Fanconi anemia complementation group N | 2 | Oct 19, 2023 |
| Fanconi anemia complementation group P | 2 | Dec 12, 2023 |
| Fanconi anemia complementation group Q | 1 | Feb 18, 2025 |
| Fanconi renotubular syndrome 1 | 2 | Oct 19, 2023 |
| Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 1 | Oct 19, 2023 |
| Fanconi-Bickel syndrome | 3 | May 2, 2025 |
| Farber lipogranulomatosis | 3 | Dec 12, 2023 |
| Febrile seizures, familial, 2 | 1 | Dec 7, 2023 |
| Febrile seizures, familial, 4 | 7 | Jan 27, 2025 |
| Fetal akinesia deformation sequence 3 | 1 | Jun 7, 2024 |
| Fibrochondrogenesis 1 | 1 | Aug 1, 2025 |
| Filippi syndrome | 1 | Oct 19, 2023 |
| Finnish congenital nephrotic syndrome | 17 | Aug 1, 2025 |
| Finnish type amyloidosis | 1 | Oct 19, 2023 |
| Fleck corneal dystrophy | 3 | Jan 20, 2025 |
| Focal dermal hypoplasia | 2 | Jan 20, 2025 |
| Focal segmental glomerulosclerosis 1 | 1 | May 2, 2025 |
| Focal segmental glomerulosclerosis 2 | 5 | Sep 5, 2024 |
| Focal segmental glomerulosclerosis 5 | 2 | Aug 1, 2025 |
| Focal segmental glomerulosclerosis 7 | 1 | Oct 4, 2024 |
| Focal segmental glomerulosclerosis 8 | 4 | Jul 11, 2025 |
| Fontaine progeroid syndrome | 1 | Oct 19, 2023 |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 3 | Jun 7, 2024 |
| Fowler syndrome | 1 | Jun 13, 2024 |
| Fragile X syndrome | 1 | Jun 7, 2024 |
| Fraser syndrome 1 | 3 | Aug 1, 2025 |
| Fraser syndrome 2 | 4 | Dec 12, 2023 |
| Frontometaphyseal dysplasia 1 | 2 | Dec 16, 2024 |
| Frontotemporal dementia | 1 | Oct 19, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 | Feb 2, 2022 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 2 | Oct 27, 2023 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | 2 | Oct 27, 2023 |
| Fructose-biphosphatase deficiency | 2 | Dec 16, 2024 |
| Fucosidosis | 2 | Apr 24, 2025 |
| GAPO syndrome | 2 | May 2, 2025 |
| GM1 gangliosidosis type 2 | 4 | Jan 27, 2025 |
| GM1 gangliosidosis type 3 | 2 | Oct 4, 2024 |
| GM3 synthase deficiency | 1 | Dec 16, 2024 |
| GNE myopathy | 14 | Aug 1, 2025 |
| GNPTG-mucolipidosis | 5 | Jan 27, 2025 |
| GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 | Jun 7, 2024 |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 2 | Jun 13, 2024 |
| Galactosylceramide beta-galactosidase deficiency | 15 | Aug 1, 2025 |
| Galloway-Mowat syndrome 1 | 4 | Jul 28, 2025 |
| Galloway-Mowat syndrome 2, X-linked | 3 | Jan 27, 2025 |
| Galloway-Mowat syndrome 3 | 1 | Oct 19, 2023 |
| Galloway-Mowat syndrome 4 | 1 | Jan 27, 2025 |
| Galloway-Mowat syndrome 5 | 1 | May 2, 2025 |
| Gamma-glutamylcysteine synthetase deficiency | 1 | Nov 23, 2023 |
| Gastrointestinal defects and immunodeficiency syndrome 1 | 1 | Oct 19, 2023 |
| Gastrointestinal defects and immunodeficiency syndrome 2 | 1 | Jun 7, 2024 |
| Gaucher disease type I | 2 | Jun 20, 2024 |
| Gaucher disease type II | 3 | Jan 31, 2025 |
| Gaze palsy, familial horizontal, with progressive scoliosis 1 | 3 | Nov 16, 2024 |
| Geleophysic dysplasia 1 | 1 | Dec 16, 2024 |
| Geleophysic dysplasia 2 | 1 | May 2, 2025 |
| Generalized dominant dystrophic epidermolysis bullosa | 4 | Nov 16, 2024 |
| Generalized epilepsy with febrile seizures plus, type 1 | 2 | Nov 16, 2024 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Oct 4, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 18 | Aug 1, 2025 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 5 | Dec 16, 2024 |
| Genitopatellar syndrome | 2 | Aug 1, 2025 |
| Geroderma osteodysplastica | 1 | Jan 27, 2025 |
| Ghosal hematodiaphyseal dysplasia | 3 | Jan 31, 2025 |
| Giant axonal neuropathy 1 | 2 | Oct 4, 2024 |
| Gilbert syndrome | 5 | Aug 1, 2025 |
| Gillespie syndrome | 1 | Oct 19, 2023 |
| Glanzmann thrombasthenia 1 | 5 | Dec 7, 2023 |
| Glanzmann thrombasthenia 2 | 6 | Aug 1, 2025 |
| Glaucoma 1, open angle, A | 3 | Jan 20, 2025 |
| Glaucoma 1, open angle, G | 1 | Oct 27, 2023 |
| Glaucoma 3, primary congenital, D | 1 | Oct 4, 2024 |
| Glaucoma 3A | 3 | Sep 5, 2024 |
| Global developmental delay | 1 | Jan 27, 2023 |
| Global developmental delay with or without impaired intellectual development | 7 | Dec 24, 2024 |
| Global developmental delay with speech and behavioral abnormalities | 9 | Jan 27, 2025 |
| Global developmental delay, progressive ataxia, and elevated glutamine | 1 | Nov 24, 2023 |
| Glomerulopathy with fibronectin deposits 2 | 9 | May 2, 2025 |
| Glomerulotubular Nephropathy | 1 | Feb 2, 2022 |
| Glucocorticoid deficiency 1 | 2 | Jan 27, 2025 |
| Glucocorticoid deficiency 4 | 1 | Jan 27, 2025 |
| Glucocorticoid deficiency with achalasia | 3 | Dec 24, 2024 |
| Glucose-6-phosphate transport defect | 7 | Jan 27, 2025 |
| Glutamate pyruvate transaminase 2 deficiency | 3 | May 2, 2025 |
| Glutaric aciduria, type 1 | 15 | Aug 1, 2025 |
| Glutaryl-CoA oxidase deficiency | 1 | May 2, 2024 |
| Glycine encephalopathy 1 | 7 | Jan 27, 2025 |
| Glycine encephalopathy 2 | 1 | Aug 1, 2025 |
| Glycogen storage disease IXa1 | 6 | Aug 1, 2025 |
| Glycogen storage disease IXb | 5 | May 2, 2024 |
| Glycogen storage disease IXc | 7 | Feb 11, 2025 |
| Glycogen storage disease IXd | 2 | Jun 7, 2024 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 | Nov 24, 2023 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Jan 27, 2025 |
| Glycogen storage disease type III | 21 | Aug 1, 2025 |
| Glycogen storage disease, type II | 12 | Aug 1, 2025 |
| Glycogen storage disease, type IV | 4 | May 2, 2024 |
| Glycogen storage disease, type V | 2 | Dec 24, 2024 |
| Glycogen storage disease, type VI | 13 | Feb 11, 2025 |
| Glycogen storage disorder due to hepatic glycogen synthase deficiency | 4 | Jul 28, 2025 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 1 | Oct 19, 2023 |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 1 | Feb 2, 2022 |
| Goldberg-Shprintzen syndrome | 2 | Jun 20, 2024 |
| Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 1 | Nov 24, 2023 |
| Gordon syndrome | 2 | Oct 19, 2023 |
| Granulomatous disease, chronic, X-linked | 1 | Oct 27, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2 | May 2, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | 2 | May 2, 2024 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 1 | Apr 24, 2025 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 2 | Jan 31, 2025 |
| Grebe syndrome | 1 | Jun 20, 2024 |
| Griscelli syndrome type 2 | 6 | Jan 27, 2025 |
| Griscelli syndrome type 3 | 1 | Jun 20, 2024 |
| Growth delay due to insulin-like growth factor I resistance | 3 | Jan 27, 2025 |
| Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 2 | May 2, 2024 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 | Jan 27, 2025 |
| Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | 2 | Nov 16, 2024 |
| Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | Oct 19, 2023 |
| H syndrome | 2 | Jun 7, 2024 |
| HSD10 mitochondrial disease | 3 | May 2, 2024 |
| Haim-Munk syndrome | 1 | Nov 16, 2024 |
| Hand-foot-genital syndrome | 1 | May 2, 2024 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Aug 1, 2025 |
| Hb SS disease | 1 | May 2, 2025 |
| Hearing loss, X-linked 4 | 1 | May 2, 2024 |
| Hearing loss, autosomal dominant 34, with or without inflammation | 1 | May 2, 2024 |
| Hearing loss, autosomal dominant 73 | 1 | Jan 27, 2025 |
| Hearing loss, autosomal dominant 74 | 1 | Jan 27, 2025 |
| Hearing loss, autosomal dominant 80 | 1 | Dec 7, 2023 |
| Hearing loss, autosomal dominant 81 | 1 | Sep 5, 2024 |
| Hearing loss, autosomal dominant 83 | 4 | Feb 11, 2025 |
| Hearing loss, autosomal recessive 106 | 1 | Jan 20, 2025 |
| Hearing loss, autosomal recessive 110 | 1 | Dec 12, 2023 |
| Heart and brain malformation syndrome | 2 | Jan 20, 2025 |
| Heart defect - tongue hamartoma - polysyndactyly syndrome | 1 | Oct 19, 2023 |
| Hematuria, benign familial, 1 | 1 | Jun 7, 2024 |
| Heme oxygenase 1 deficiency | 1 | Oct 4, 2024 |
| Hemochromatosis type 1 | 4 | Oct 4, 2024 |
| Hemochromatosis type 3 | 1 | Aug 1, 2025 |
| Hemolytic anemia due to glucophosphate isomerase deficiency | 6 | Nov 16, 2024 |
| Hemolytic anemia due to glutathione reductase deficiency | 1 | Jan 20, 2025 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 4 | Aug 1, 2025 |
| Hengel-Maroofian-Schols syndrome | 1 | Nov 24, 2023 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 2 | Dec 12, 2023 |
| Hepatic adenomas, familial | 1 | Aug 1, 2025 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 1 | Sep 5, 2024 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | Oct 19, 2023 |
| Hepatorenocardiac degenerative fibrosis | 1 | May 2, 2025 |
| Hereditary angioedema type 1 | 1 | Jan 27, 2025 |
| Hereditary angioedema type 3 | 1 | Aug 1, 2025 |
| Hereditary attention deficit-hyperactivity disorder | 2 | Oct 19, 2023 |
| Hereditary diffuse gastric adenocarcinoma | 2 | Aug 1, 2025 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | Feb 2, 2022 |
| Hereditary factor IX deficiency disease | 2 | Jun 7, 2024 |
| Hereditary factor VIII deficiency disease | 17 | Aug 1, 2025 |
| Hereditary factor X deficiency disease | 1 | Jun 7, 2024 |
| Hereditary factor XI deficiency disease | 6 | Jun 20, 2024 |
| Hereditary fructosuria | 2 | Jan 27, 2025 |
| Hereditary hyperferritinemia with congenital cataracts | 1 | Aug 1, 2025 |
| Hereditary insensitivity to pain with anhidrosis | 5 | Jan 27, 2025 |
| Hereditary lymphedema type I | 2 | Dec 16, 2024 |
| Hereditary pancreatitis | 15 | Jul 28, 2025 |
| Hereditary persistence of fetal hemoglobin | 1 | Nov 24, 2023 |
| Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 1 | May 18, 2024 |
| Hereditary sensory and autonomic neuropathy type 6 | 2 | Jan 20, 2025 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Oct 19, 2023 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 2 | Nov 16, 2024 |
| Hereditary spastic paraplegia 10 | 2 | Oct 19, 2023 |
| Hereditary spastic paraplegia 11 | 28 | Aug 1, 2025 |
| Hereditary spastic paraplegia 13 | 1 | Aug 1, 2025 |
| Hereditary spastic paraplegia 15 | 4 | Dec 16, 2024 |
| Hereditary spastic paraplegia 30 | 6 | May 2, 2025 |
| Hereditary spastic paraplegia 31 | 2 | Jan 27, 2025 |
| Hereditary spastic paraplegia 35 | 7 | Jul 28, 2025 |
| Hereditary spastic paraplegia 39 | 1 | May 2, 2025 |
| Hereditary spastic paraplegia 3A | 1 | May 2, 2024 |
| Hereditary spastic paraplegia 4 | 5 | Aug 1, 2025 |
| Hereditary spastic paraplegia 43 | 4 | Nov 16, 2024 |
| Hereditary spastic paraplegia 46 | 3 | Jan 31, 2025 |
| Hereditary spastic paraplegia 47 | 6 | Dec 24, 2024 |
| Hereditary spastic paraplegia 48 | 4 | Sep 5, 2024 |
| Hereditary spastic paraplegia 49 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 50 | 1 | Dec 16, 2024 |
| Hereditary spastic paraplegia 52 | 1 | Sep 5, 2024 |
| Hereditary spastic paraplegia 56 | 3 | Jun 7, 2024 |
| Hereditary spastic paraplegia 57 | 1 | Feb 2, 2022 |
| Hereditary spastic paraplegia 5A | 2 | May 2, 2025 |
| Hereditary spastic paraplegia 6 | 1 | Feb 2, 2022 |
| Hereditary spastic paraplegia 7 | 5 | Dec 24, 2024 |
| Hereditary spastic paraplegia 73 | 1 | Dec 7, 2023 |
| Hereditary spastic paraplegia 74 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 75 | 1 | Oct 19, 2023 |
| Hereditary spastic paraplegia 8 | 5 | Jan 20, 2025 |
| Hereditary spherocytosis type 1 | 23 | Apr 24, 2025 |
| Hereditary spherocytosis type 2 | 21 | Apr 24, 2025 |
| Hereditary spherocytosis type 3 | 3 | May 2, 2025 |
| Hereditary spherocytosis type 4 | 1 | Oct 27, 2023 |
| Hereditary xanthinuria type 1 | 3 | May 2, 2024 |
| Hermansky-Pudlak syndrome 1 | 4 | Jan 27, 2025 |
| Hermansky-Pudlak syndrome 10 | 1 | Jun 20, 2024 |
| Hermansky-Pudlak syndrome 2 | 1 | Oct 19, 2023 |
| Hermansky-Pudlak syndrome 3 | 1 | Dec 9, 2023 |
| Hermansky-Pudlak syndrome 4 | 1 | Oct 19, 2023 |
| Hermansky-Pudlak syndrome 5 | 1 | Feb 2, 2022 |
| Hermansky-Pudlak syndrome 9 | 1 | Oct 19, 2023 |
| Heterotaxy, visceral, 8, autosomal | 2 | Nov 3, 2023 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 1 | Jun 7, 2024 |
| Heterotopia, periventricular, X-linked dominant | 2 | Aug 1, 2025 |
| Heyn-Sproul-Jackson syndrome | 3 | Jun 20, 2024 |
| Hip dysplasia, Beukes type | 1 | Aug 1, 2025 |
| Hirschsprung disease, susceptibility to, 1 | 1 | Jan 27, 2025 |
| Histiocytic medullary reticulosis | 2 | Sep 5, 2024 |
| Hogue-Janssens syndrome 1 | 3 | Jan 27, 2025 |
| Holocarboxylase synthetase deficiency | 1 | Dec 9, 2023 |
| Holoprosencephaly 11 | 1 | Oct 19, 2023 |
| Holoprosencephaly 13, X-linked | 2 | Jan 27, 2025 |
| Holoprosencephaly 3 | 1 | Sep 5, 2024 |
| Holoprosencephaly 7 | 1 | Oct 4, 2024 |
| Holoprosencephaly 9 | 2 | Oct 27, 2023 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 12 | Jul 11, 2025 |
| Hurler syndrome | 5 | Jan 20, 2025 |
| Hyaline fibromatosis syndrome | 3 | Aug 1, 2025 |
| Hydatidiform mole, recurrent, 1 | 1 | Oct 19, 2023 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 | Jun 20, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 4 | May 2, 2025 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 5 | Sep 5, 2024 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 1 | Feb 18, 2025 |
| Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | 1 | Jan 27, 2025 |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 2 | Jun 20, 2024 |
| Hyper-IgM syndrome type 1 | 3 | Aug 1, 2025 |
| Hyperalphalipoproteinemia 1 | 1 | Oct 27, 2023 |
| Hyperammonemia, type III | 1 | Feb 2, 2022 |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2 | Jun 13, 2024 |
| Hypercalcemia, infantile, 1 | 1 | Dec 12, 2023 |
| Hypercalcemia, infantile, 2 | 4 | Sep 5, 2024 |
| Hypercholesterolemia, autosomal dominant, type B | 3 | Dec 16, 2024 |
| Hypercholesterolemia, familial, 1 | 11 | Dec 16, 2024 |
| Hypercholesterolemia, familial, 4 | 1 | Aug 1, 2025 |
| Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 1 | Jan 20, 2025 |
| Hyperekplexia 1 | 4 | Dec 16, 2024 |
| Hyperekplexia 3 | 1 | Oct 19, 2023 |
| Hyperglycinuria | 3 | Nov 24, 2023 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 6 | Aug 1, 2025 |
| Hyperinsulinism due to INSR deficiency | 1 | Dec 9, 2023 |
| Hyperinsulinism-hyperammonemia syndrome | 4 | Nov 16, 2024 |
| Hyperlipoproteinemia, type 1D | 2 | Jun 7, 2024 |
| Hyperlipoproteinemia, type I | 6 | Aug 1, 2025 |
| Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 2 | Apr 24, 2025 |
| Hyperparathyroidism 2 with jaw tumors | 1 | Aug 1, 2025 |
| Hyperparathyroidism, transient neonatal | 1 | Oct 19, 2023 |
| Hyperphosphatasia with intellectual disability syndrome 1 | 1 | Jun 20, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 2 | 2 | Jun 7, 2024 |
| Hyperphosphatasia with intellectual disability syndrome 3 | 4 | Jan 27, 2025 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Dec 16, 2024 |
| Hypertrophic cardiomyopathy 1 | 6 | May 2, 2025 |
| Hypertrophic cardiomyopathy 11 | 1 | May 2, 2025 |
| Hypertrophic cardiomyopathy 14 | 6 | Sep 5, 2024 |
| Hypertrophic cardiomyopathy 17 | 1 | Oct 27, 2023 |
| Hypertrophic cardiomyopathy 25 | 1 | Jan 20, 2025 |
| Hypertrophic cardiomyopathy 26 | 5 | May 2, 2025 |
| Hypertrophic cardiomyopathy 4 | 9 | Nov 16, 2024 |
| Hypertrophic cardiomyopathy 6 | 2 | Aug 1, 2025 |
| Hypertrophic cardiomyopathy 7 | 1 | May 2, 2025 |
| Hypertrophic cardiomyopathy 8 | 2 | May 2, 2024 |
| Hypertrophic cardiomyopathy 9 | 2 | Jun 7, 2024 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 3 | May 2, 2024 |
| Hypervalinemia and hyperleucine-isoleucinemia | 1 | Jul 11, 2025 |
| Hypochondroplasia | 1 | Sep 5, 2024 |
| Hypogonadotropic hypogonadism 11 with or without anosmia | 1 | Nov 16, 2024 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 2 | Apr 24, 2025 |
| Hypogonadotropic hypogonadism 18 with or without anosmia | 1 | Jan 27, 2025 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | May 2, 2025 |
| Hypogonadotropic hypogonadism 22 with or without anosmia | 1 | Feb 2, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Jun 7, 2024 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 1 | Dec 7, 2023 |
| Hypogonadotropic hypogonadism 8 with or without anosmia | 2 | Aug 1, 2025 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Oct 19, 2023 |
| Hypokalemic periodic paralysis, type 2 | 2 | Jun 13, 2024 |
| Hypomagnesemia, seizures, and intellectual disability 1 | 2 | Aug 1, 2025 |
| Hypomagnesemia, seizures, and intellectual disability 2 | 1 | Nov 16, 2024 |
| Hypomyelinating leukodystrophy 10 | 2 | Jan 27, 2025 |
| Hypomyelinating leukodystrophy 11 | 6 | Dec 9, 2023 |
| Hypomyelinating leukodystrophy 13 | 1 | Oct 19, 2023 |
| Hypomyelinating leukodystrophy 2 | 3 | Jan 20, 2025 |
| Hypomyelinating leukodystrophy 3 | 2 | Dec 16, 2024 |
| Hypomyelinating leukodystrophy 4 | 2 | Dec 16, 2024 |
| Hypomyelinating leukodystrophy 6 | 1 | Dec 7, 2023 |
| Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 3 | Sep 5, 2024 |
| Hypomyelinating leukodystrophy 9 | 1 | May 2, 2024 |
| Hypoparathyroidism, deafness, renal disease syndrome | 4 | May 2, 2025 |
| Hypoparathyroidism, familial isolated 1 | 1 | Oct 27, 2023 |
| Hypophosphatemic nephrolithiasis/osteoporosis 1 | 2 | Nov 16, 2024 |
| Hypophosphatemic rickets, X-linked recessive | 1 | Aug 1, 2025 |
| Hypospadias 2, X-linked | 1 | May 2, 2024 |
| Hypothyroidism due to TSH receptor mutations | 1 | Aug 1, 2025 |
| Hypotonia with lactic acidemia and hyperammonemia | 2 | Oct 19, 2023 |
| Hypotonia, ataxia, and delayed development syndrome | 3 | Aug 1, 2025 |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 2 | Dec 16, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 | Oct 19, 2023 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 6 | May 2, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 4 | Nov 16, 2024 |
| Hypotrichosis 6 | 2 | Jun 7, 2024 |
| Hypotrichosis 7 | 1 | Dec 16, 2024 |
| Hypotrichosis 8 | 4 | Aug 1, 2025 |
| Ichthyosis prematurity syndrome | 2 | Jan 27, 2025 |
| Ichthyosis vulgaris | 4 | Jan 20, 2025 |
| Ichthyosis, annular epidermolytic 1 | 1 | May 2, 2024 |
| Ichthyosis, annular epidermolytic, 2 | 1 | Dec 7, 2023 |
| Ichthyosis, congenital, autosomal recessive 13 | 1 | Oct 19, 2023 |
| Idiopathic basal ganglia calcification 1 | 2 | Jan 27, 2025 |
| Idiopathic generalized epilepsy | 1 | Oct 19, 2023 |
| Imerslund-Grasbeck syndrome type 1 | 1 | Oct 19, 2023 |
| Imerslund-Grasbeck syndrome type 2 | 2 | Dec 16, 2024 |
| Immunodeficiency 104 | 2 | Jan 27, 2025 |
| Immunodeficiency 11b with atopic dermatitis | 2 | Jan 27, 2025 |
| Immunodeficiency 14 | 5 | Dec 16, 2024 |
| Immunodeficiency 15a | 3 | May 2, 2025 |
| Immunodeficiency 18 | 1 | Oct 19, 2023 |
| Immunodeficiency 23 | 3 | Dec 16, 2024 |
| Immunodeficiency 25 | 1 | Oct 19, 2023 |
| Immunodeficiency 27A | 1 | Oct 19, 2023 |
| Immunodeficiency 32B | 1 | Dec 16, 2024 |
| Immunodeficiency 35 | 1 | May 2, 2025 |
| Immunodeficiency 36 with lymphoproliferation | 5 | Feb 11, 2025 |
| Immunodeficiency 47 | 3 | Jan 27, 2025 |
| Immunodeficiency 49 | 1 | Dec 7, 2023 |
| Immunodeficiency 51 | 1 | Dec 9, 2023 |
| Immunodeficiency 57 | 1 | May 2, 2024 |
| Immunodeficiency 60 | 1 | Dec 7, 2023 |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 1 | Oct 19, 2023 |
| Immunodeficiency 64 | 1 | Dec 16, 2024 |
| Immunodeficiency 65, susceptibility to viral infections | 1 | Nov 16, 2024 |
| Immunodeficiency 66 | 1 | Dec 9, 2023 |
| Immunodeficiency 67 | 2 | Jun 7, 2024 |
| Immunodeficiency 72 with autoinflammation | 2 | Sep 5, 2024 |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | 1 | Aug 1, 2025 |
| Immunodeficiency 83, susceptibility to viral infections | 3 | Jun 7, 2024 |
| Immunodeficiency 87 and autoimmunity | 1 | Sep 5, 2024 |
| Immunodeficiency 89 and autoimmunity | 1 | Nov 24, 2023 |
| Immunodeficiency 94 with autoinflammation and dysmorphic facies | 1 | May 2, 2024 |
| Immunodeficiency 96 | 1 | May 2, 2024 |
| Immunodeficiency 98 with autoinflammation, X-linked | 1 | Sep 5, 2024 |
| Immunodeficiency due to MASP-2 deficiency | 2 | Feb 18, 2025 |
| Immunodeficiency, common variable, 1 | 1 | Oct 19, 2023 |
| Immunodeficiency, common variable, 10 | 7 | Aug 1, 2025 |
| Immunodeficiency, common variable, 12 | 5 | May 2, 2025 |
| Immunodeficiency, common variable, 14 | 3 | May 2, 2025 |
| Immunodeficiency, common variable, 2 | 1 | Dec 7, 2023 |
| Immunodeficiency, common variable, 3 | 3 | Jan 27, 2025 |
| Immunodeficiency, common variable, 7 | 3 | May 2, 2025 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 3 | May 2, 2024 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Dec 12, 2023 |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 5 | Oct 27, 2023 |
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 2 | May 2, 2024 |
| Infantile GM1 gangliosidosis | 12 | Jan 27, 2025 |
| Infantile cerebellar-retinal degeneration | 1 | Jan 9, 2023 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 | Oct 4, 2024 |
| Infantile convulsions and choreoathetosis | 2 | Dec 24, 2024 |
| Infantile hypophosphatasia | 2 | Nov 3, 2023 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 1 | Jan 27, 2025 |
| Infantile liver failure syndrome 1 | 1 | Sep 5, 2024 |
| Infantile liver failure syndrome 2 | 2 | Jan 20, 2025 |
| Infantile neuroaxonal dystrophy | 11 | Aug 1, 2025 |
| Infantile onset spinocerebellar ataxia | 2 | May 2, 2025 |
| Infantile osteopetrosis with neuroaxonal dysplasia | 1 | Oct 19, 2023 |
| Infantile-onset X-linked spinal muscular atrophy | 1 | Oct 19, 2023 |
| Infantile-onset ascending hereditary spastic paralysis | 3 | Nov 3, 2023 |
| Infantile-onset generalized dyskinesia with orofacial involvement | 1 | Apr 24, 2025 |
| Inflammatory bowel disease 28 | 3 | Jul 11, 2025 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 | May 2, 2024 |
| Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | Oct 27, 2023 |
| Intellectual developmental disorder 59 | 2 | Dec 16, 2024 |
| Intellectual developmental disorder 61 | 5 | Jan 20, 2025 |
| Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 2 | Feb 18, 2025 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 2 | Jan 20, 2025 |
| Intellectual developmental disorder with autism and macrocephaly | 4 | Aug 1, 2025 |
| Intellectual developmental disorder with autism and speech delay | 2 | Jan 9, 2023 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 8 | Dec 16, 2024 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 2 | Jan 27, 2025 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 2 | Jan 20, 2025 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 4 | Aug 1, 2025 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Jun 7, 2024 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 3 | Dec 16, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Jan 27, 2025 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 | Oct 4, 2024 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism | 1 | Dec 16, 2024 |
| Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | 1 | Oct 4, 2024 |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 1 | Jan 27, 2025 |
| Intellectual developmental disorder with neuropsychiatric features | 2 | Jan 31, 2025 |
| Intellectual developmental disorder with ocular anomalies and distinctive facial features | 1 | Dec 16, 2024 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 3 | Jan 27, 2025 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 1 | Jan 20, 2025 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 2 | May 2, 2024 |
| Intellectual developmental disorder with seizures and language delay | 5 | Jan 20, 2025 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Oct 19, 2023 |
| Intellectual developmental disorder with short stature and variable skeletal anomalies | 1 | Dec 7, 2023 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 5 | Aug 1, 2025 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | May 2, 2024 |
| Intellectual developmental disorder, X-linked 108 | 1 | Jan 9, 2023 |
| Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 1 | Jun 7, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 1 | Jun 7, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 2 | Jan 20, 2025 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Dec 16, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 9 | Jan 27, 2025 |
| Intellectual developmental disorder, autosomal dominant 65 | 4 | Dec 16, 2024 |
| Intellectual developmental disorder, autosomal dominant 68 | 2 | Jul 11, 2025 |
| Intellectual developmental disorder, autosomal dominant 70 | 1 | Sep 5, 2024 |
| Intellectual developmental disorder, autosomal dominant 73 | 1 | Aug 1, 2025 |
| Intellectual developmental disorder, autosomal recessive 68 | 2 | Nov 16, 2024 |
| Intellectual developmental disorder, autosomal recessive 71 | 2 | Jan 20, 2025 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Sep 5, 2024 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 4 | Jan 20, 2025 |
| Intellectual developmental disorder, autosomal recessive 76 | 1 | Jan 31, 2025 |
| Intellectual disability and myopathy syndrome | 1 | Nov 16, 2024 |
| Intellectual disability, Wolff type | 1 | Feb 2, 2022 |
| Intellectual disability, X-linked 1 | 3 | Jan 20, 2025 |
| Intellectual disability, X-linked 100 | 1 | Jun 7, 2024 |
| Intellectual disability, X-linked 102 | 6 | Aug 1, 2025 |
| Intellectual disability, X-linked 104 | 1 | Oct 19, 2023 |
| Intellectual disability, X-linked 19 | 1 | Sep 5, 2024 |
| Intellectual disability, X-linked 30 | 2 | Sep 5, 2024 |
| Intellectual disability, X-linked 49 | 4 | Jan 27, 2025 |
| Intellectual disability, X-linked 61 | 1 | Oct 19, 2023 |
| Intellectual disability, X-linked 90 | 1 | Dec 16, 2024 |
| Intellectual disability, X-linked 93 | 1 | Oct 19, 2023 |
| Intellectual disability, X-linked 96 | 1 | Dec 24, 2024 |
| Intellectual disability, X-linked 99 | 2 | Jan 20, 2025 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 4 | Jan 20, 2025 |
| Intellectual disability, X-linked syndromic, Turner type | 3 | Sep 5, 2024 |
| Intellectual disability, X-linked, syndromic 33 | 4 | Jan 27, 2025 |
| Intellectual disability, X-linked, syndromic, Bain type | 2 | Jan 20, 2025 |
| Intellectual disability, X-linked, syndromic, Houge type | 2 | Jan 27, 2025 |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 1 | Feb 2, 2022 |
| Intellectual disability, autosomal dominant 1 | 7 | Aug 1, 2025 |
| Intellectual disability, autosomal dominant 13 | 10 | May 2, 2024 |
| Intellectual disability, autosomal dominant 14 | 1 | Oct 4, 2024 |
| Intellectual disability, autosomal dominant 16 | 1 | Nov 23, 2023 |
| Intellectual disability, autosomal dominant 22 | 1 | Jun 20, 2024 |
| Intellectual disability, autosomal dominant 24 | 3 | Dec 31, 2024 |
| Intellectual disability, autosomal dominant 29 | 4 | Sep 5, 2024 |
| Intellectual disability, autosomal dominant 3 | 5 | May 2, 2025 |
| Intellectual disability, autosomal dominant 30 | 2 | Dec 16, 2024 |
| Intellectual disability, autosomal dominant 34 | 1 | May 2, 2024 |
| Intellectual disability, autosomal dominant 39 | 4 | Aug 1, 2025 |
| Intellectual disability, autosomal dominant 40 | 4 | Dec 16, 2024 |
| Intellectual disability, autosomal dominant 42 | 2 | Jan 27, 2025 |
| Intellectual disability, autosomal dominant 43 | 8 | Jan 27, 2025 |
| Intellectual disability, autosomal dominant 45 | 9 | Feb 11, 2025 |
| Intellectual disability, autosomal dominant 46 | 4 | Nov 16, 2024 |
| Intellectual disability, autosomal dominant 5 | 7 | May 2, 2025 |
| Intellectual disability, autosomal dominant 50 | 2 | May 2, 2025 |
| Intellectual disability, autosomal dominant 51 | 1 | Dec 16, 2024 |
| Intellectual disability, autosomal dominant 52 | 11 | May 2, 2025 |
| Intellectual disability, autosomal dominant 53 | 2 | Jan 20, 2025 |
| Intellectual disability, autosomal dominant 54 | 5 | May 2, 2025 |
| Intellectual disability, autosomal dominant 55, with seizures | 3 | May 2, 2025 |
| Intellectual disability, autosomal dominant 56 | 2 | Nov 16, 2024 |
| Intellectual disability, autosomal dominant 58 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal dominant 6 | 2 | Nov 16, 2024 |
| Intellectual disability, autosomal dominant 9 | 6 | Jun 20, 2024 |
| Intellectual disability, autosomal recessive 13 | 3 | Jun 7, 2024 |
| Intellectual disability, autosomal recessive 27 | 1 | Nov 16, 2024 |
| Intellectual disability, autosomal recessive 3 | 1 | Oct 19, 2023 |
| Intellectual disability, autosomal recessive 42 | 3 | Dec 7, 2023 |
| Intellectual disability, autosomal recessive 47 | 1 | May 2, 2025 |
| Intellectual disability, autosomal recessive 5 | 3 | Jan 20, 2025 |
| Intellectual disability, autosomal recessive 53 | 4 | Nov 16, 2024 |
| Intellectual disability, autosomal recessive 57 | 1 | Jan 31, 2025 |
| Intellectual disability, autosomal recessive 65 | 1 | Dec 31, 2024 |
| Intellectual disability, autosomal recessive 66 | 1 | Oct 4, 2024 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 3 | Feb 18, 2025 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 6 | Aug 1, 2025 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 8 | May 2, 2024 |
| Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 | Feb 2, 2022 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 4 | Sep 5, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 10 | Aug 1, 2025 |
| Interstitial lung disease 2 | 2 | Aug 1, 2025 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Jan 27, 2025 |
| Intervertebral disc disorder | 1 | Aug 1, 2025 |
| Intestinal hypomagnesemia 1 | 4 | Jan 27, 2025 |
| Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 2 | Aug 1, 2025 |
| Islet cell adenomatosis | 1 | Dec 24, 2024 |
| Isolated focal cortical dysplasia type II | 1 | Dec 12, 2023 |
| Isolated growth hormone deficiency, type 4 | 2 | Jul 28, 2025 |
| Isolated growth hormone deficiency, type 5 | 1 | Nov 16, 2024 |
| Isolated neonatal sclerosing cholangitis | 2 | May 2, 2025 |
| Isovaleryl-CoA dehydrogenase deficiency | 5 | May 2, 2025 |
| Jervell and Lange-Nielsen syndrome 1 | 1 | Dec 16, 2024 |
| Joubert syndrome 1 | 2 | Oct 27, 2023 |
| Joubert syndrome 10 | 1 | Dec 7, 2023 |
| Joubert syndrome 15 | 1 | Jan 9, 2023 |
| Joubert syndrome 16 | 2 | Jan 31, 2025 |
| Joubert syndrome 17 | 5 | Nov 16, 2024 |
| Joubert syndrome 18 | 1 | Jun 7, 2024 |
| Joubert syndrome 21 | 3 | Dec 16, 2024 |
| Joubert syndrome 23 | 3 | Dec 7, 2023 |
| Joubert syndrome 26 | 2 | Jan 20, 2025 |
| Joubert syndrome 27 | 1 | Dec 16, 2024 |
| Joubert syndrome 3 | 4 | Dec 16, 2024 |
| Joubert syndrome 32 | 1 | Nov 16, 2024 |
| Joubert syndrome 33 | 2 | May 2, 2025 |
| Joubert syndrome 37 | 4 | Jan 20, 2025 |
| Joubert syndrome 5 | 6 | May 2, 2024 |
| Joubert syndrome 6 | 2 | May 2, 2025 |
| Joubert syndrome 7 | 1 | Oct 19, 2023 |
| Joubert syndrome 9 | 1 | Dec 9, 2023 |
| Junctional epidermolysis bullosa gravis of Herlitz | 10 | Oct 4, 2024 |
| Junctional epidermolysis bullosa with pyloric atresia | 3 | Nov 3, 2023 |
| Junctional epidermolysis bullosa, non-Herlitz type | 9 | Jul 28, 2025 |
| Juvenile arthritis due to defect in LACC1 | 1 | Jan 31, 2025 |
| Juvenile polyposis syndrome | 1 | Jun 13, 2024 |
| Juvenile retinoschisis | 1 | Jan 27, 2025 |
| KBG syndrome | 6 | May 2, 2025 |
| KINSSHIP syndrome | 3 | Sep 5, 2024 |
| Kabuki syndrome 1 | 17 | Aug 1, 2025 |
| Kabuki syndrome 2 | 4 | Jan 27, 2025 |
| Kaya-Barakat-Masson syndrome | 1 | Jan 27, 2025 |
| Keipert syndrome | 1 | Oct 19, 2023 |
| Keratosis palmoplantaris striata 2 | 1 | Jul 11, 2025 |
| Kindler syndrome | 3 | Jan 27, 2025 |
| Kleefstra syndrome 1 | 5 | May 2, 2025 |
| Kleefstra syndrome 2 | 7 | Dec 16, 2024 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 2 | Aug 1, 2025 |
| Klippel-Feil syndrome 3, autosomal dominant | 1 | Oct 4, 2024 |
| Knobloch syndrome 1 | 3 | Aug 1, 2025 |
| Koolen-de Vries syndrome | 9 | Jan 27, 2025 |
| Kostmann syndrome | 2 | Oct 4, 2024 |
| Krabbe disease due to saposin A deficiency | 1 | Dec 24, 2024 |
| Kufor-Rakeb syndrome | 1 | Oct 19, 2023 |
| Kugelberg-Welander disease | 1 | Dec 16, 2024 |
| L-2-hydroxyglutaric aciduria | 4 | Apr 24, 2025 |
| LADD syndrome 1 | 1 | Aug 1, 2025 |
| LAMB2-related infantile-onset nephrotic syndrome | 3 | Oct 27, 2023 |
| LEOPARD syndrome 1 | 3 | Dec 16, 2024 |
| LIPE-related familial partial lipodystrophy | 1 | Oct 4, 2024 |
| LZTR1-related schwannomatosis | 1 | Nov 24, 2023 |
| Lactic aciduria due to D-lactic acid | 1 | Feb 11, 2025 |
| Lafora disease | 3 | Oct 19, 2023 |
| Lamb-Shaffer syndrome | 1 | May 2, 2025 |
| Landau-Kleffner syndrome | 9 | Aug 1, 2025 |
| Laron-type isolated somatotropin defect | 2 | Oct 19, 2023 |
| Larsen syndrome | 5 | Oct 4, 2024 |
| Laryngo-onycho-cutaneous syndrome | 2 | Jan 20, 2025 |
| Lattice corneal dystrophy Type I | 1 | Nov 24, 2023 |
| Lazy leukocyte syndrome | 2 | May 2, 2025 |
| Leber congenital amaurosis 1 | 3 | Jan 20, 2025 |
| Leber congenital amaurosis 13 | 1 | Jun 20, 2024 |
| Leber congenital amaurosis 14 | 1 | Dec 12, 2023 |
| Leber congenital amaurosis 15 | 1 | Sep 5, 2024 |
| Leber congenital amaurosis 2 | 3 | Sep 5, 2024 |
| Leber congenital amaurosis 5 | 2 | Aug 1, 2025 |
| Leber congenital amaurosis 9 | 1 | Oct 19, 2023 |
| Left ventricular noncompaction 1 | 4 | Aug 1, 2025 |
| Left ventricular noncompaction 10 | 3 | Aug 1, 2025 |
| Left ventricular noncompaction 7 | 1 | Jan 20, 2025 |
| Left ventricular noncompaction 8 | 1 | Jan 27, 2025 |
| Legius syndrome | 1 | Jun 7, 2024 |
| Leri-Weill dyschondrosteosis | 1 | Aug 1, 2025 |
| Lesch-Nyhan syndrome | 2 | Aug 1, 2025 |
| Lethal Kniest-like syndrome | 3 | Jun 13, 2024 |
| Lethal congenital contracture syndrome 1 | 2 | Jul 11, 2025 |
| Lethal congenital contracture syndrome 2 | 1 | Oct 19, 2023 |
| Lethal congenital contracture syndrome 4 | 1 | Dec 24, 2024 |
| Lethal congenital contracture syndrome 7 | 1 | Dec 12, 2023 |
| Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 4 | Dec 16, 2024 |
| Lethal multiple pterygium syndrome | 1 | Nov 23, 2023 |
| Lethal tight skin contracture syndrome | 1 | Dec 12, 2023 |
| Leukocyte adhesion deficiency 1 | 6 | Jan 20, 2025 |
| Leukocyte adhesion deficiency 3 | 3 | Oct 19, 2023 |
| Leukocyte adhesion deficiency type II | 1 | Feb 2, 2022 |
| Leukodystrophy and acquired microcephaly with or without dystonia; | 2 | Oct 19, 2023 |
| Leukodystrophy, childhood-onset, remitting | 1 | Dec 16, 2024 |
| Leukodystrophy, hypomyelinating, 15 | 1 | Jan 27, 2025 |
| Leukodystrophy, hypomyelinating, 16 | 3 | Sep 5, 2024 |
| Leukodystrophy, hypomyelinating, 17 | 2 | Jan 27, 2025 |
| Leukodystrophy, hypomyelinating, 18 | 3 | Jul 11, 2025 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 2 | May 2, 2024 |
| Leukodystrophy, hypomyelinating, 20 | 2 | Jan 9, 2023 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Nov 16, 2024 |
| Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 2 | Jun 13, 2024 |
| Leukoencephalopathy with vanishing white matter 1 | 12 | Aug 1, 2025 |
| Leukoencephalopathy with vanishing white matter 3 | 1 | Nov 24, 2023 |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 1 | Oct 19, 2023 |
| Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | 7 | Apr 24, 2025 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 3 | Oct 4, 2024 |
| Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | 1 | Jun 7, 2024 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 2 | May 2, 2024 |
| Leukoencephalopathy, progressive, with ovarian failure | 2 | Oct 19, 2023 |
| Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 5 | Feb 11, 2025 |
| Lewy body dementia | 2 | Oct 4, 2024 |
| Leydig cell agenesis | 1 | Feb 2, 2022 |
| Li-Fraumeni syndrome 1 | 7 | Sep 5, 2024 |
| Li-Ghorbani-Weisz-Hubshman syndrome | 5 | Feb 11, 2025 |
| Liberfarb syndrome | 1 | Feb 2, 2022 |
| Liddle syndrome 2 | 2 | Jan 20, 2025 |
| Lipid proteinosis | 2 | Mar 18, 2024 |
| Lipoyl transferase 1 deficiency | 2 | Nov 3, 2023 |
| Lissencephaly 10 | 3 | Oct 4, 2024 |
| Lissencephaly 6 with microcephaly | 1 | Jan 27, 2025 |
| Lissencephaly 8 | 1 | Aug 1, 2025 |
| Lissencephaly 9 with complex brainstem malformation | 8 | Dec 31, 2024 |
| Lissencephaly due to LIS1 mutation | 1 | Oct 27, 2023 |
| Lissencephaly due to TUBA1A mutation | 2 | Jan 9, 2023 |
| Lissencephaly type 1 due to doublecortin gene mutation | 4 | Feb 11, 2025 |
| Liver disease, severe congenital | 2 | Dec 16, 2024 |
| Loeys-Dietz syndrome 1 | 2 | May 2, 2025 |
| Loeys-Dietz syndrome 2 | 2 | Dec 16, 2024 |
| Loeys-Dietz syndrome 4 | 3 | Aug 1, 2025 |
| Long QT syndrome 1 | 6 | May 2, 2025 |
| Long QT syndrome 2 | 1 | May 2, 2024 |
| Long QT syndrome 3 | 3 | Aug 1, 2025 |
| Long QT syndrome 6 | 1 | Feb 2, 2022 |
| Long QT syndrome 8 | 4 | Nov 3, 2023 |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2 | Jun 7, 2024 |
| Low phospholipid associated cholelithiasis | 1 | Nov 16, 2024 |
| Lowe syndrome | 6 | Jan 27, 2025 |
| Lower urinary tract obstruction, congenital | 1 | Jan 20, 2025 |
| Lucey-Driscoll syndrome | 3 | Dec 16, 2024 |
| Lung cancer | 2 | Aug 1, 2025 |
| Luo-Schoch-Yamamoto syndrome | 1 | Jun 7, 2024 |
| Luscan-Lumish syndrome | 2 | Jun 7, 2024 |
| Lymphatic malformation 3 | 1 | Dec 7, 2023 |
| Lymphatic malformation 6 | 3 | Dec 16, 2024 |
| Lymphoproliferative syndrome 1 | 1 | Feb 2, 2022 |
| Lynch syndrome 1 | 24 | Aug 1, 2025 |
| Lynch syndrome 4 | 6 | Nov 24, 2023 |
| Lynch syndrome 5 | 17 | Jan 27, 2025 |
| Lynch syndrome 8 | 1 | Dec 16, 2024 |
| Lysinuric protein intolerance | 6 | Jul 28, 2025 |
| Lysosomal acid lipase deficiency | 3 | Oct 19, 2023 |
| MEDNIK syndrome | 1 | Dec 9, 2023 |
| MEGF10-related myopathy | 2 | Oct 19, 2023 |
| MEGF8-related Carpenter syndrome | 6 | Dec 31, 2024 |
| MEHMO syndrome | 5 | Jan 27, 2025 |
| MEND syndrome | 1 | Dec 12, 2023 |
| METHEMOGLOBINEMIA, BETA TYPE | 2 | Jan 27, 2025 |
| MHC class I deficiency 1 | 1 | Feb 18, 2025 |
| MHC class II deficiency 1 | 1 | Aug 1, 2025 |
| MHC class II deficiency 2 | 1 | Aug 1, 2025 |
| MOGS-congenital disorder of glycosylation | 2 | Oct 27, 2023 |
| MYPN-related myopathy | 1 | Oct 19, 2023 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 1 | Dec 7, 2023 |
| Macrocephaly-autism syndrome | 1 | Jun 7, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 5 | Dec 12, 2023 |
| Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Oct 19, 2023 |
| Macular corneal dystrophy | 3 | Jan 27, 2025 |
| Macular degeneration, X-linked atrophic | 1 | Oct 19, 2023 |
| Macular dystrophy with central cone involvement | 2 | Oct 4, 2024 |
| Majeed syndrome | 2 | Dec 24, 2024 |
| Malan overgrowth syndrome | 2 | Dec 7, 2023 |
| Mandibuloacral dysplasia progeroid syndrome | 1 | Oct 27, 2023 |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 | Dec 7, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 2 | Jan 20, 2025 |
| Maple syrup urine disease | 8 | Dec 9, 2023 |
| Maple syrup urine disease type 1A | 5 | Aug 1, 2025 |
| Marbach-Schaaf neurodevelopmental syndrome | 1 | Oct 4, 2024 |
| Marden-Walker syndrome | 2 | Jun 7, 2024 |
| Marfan syndrome | 15 | Aug 1, 2025 |
| Marinesco-Sjögren syndrome | 1 | Aug 1, 2025 |
| Marshall syndrome | 1 | Jan 20, 2025 |
| Marshall-Smith syndrome | 1 | Oct 19, 2023 |
| Mast syndrome | 1 | Jan 27, 2025 |
| Maturity-onset diabetes of the young type 2 | 1 | Jun 7, 2024 |
| Maturity-onset diabetes of the young type 3 | 1 | Jul 11, 2025 |
| Maturity-onset diabetes of the young type 4 | 1 | Feb 2, 2022 |
| Maturity-onset diabetes of the young type 8 | 1 | May 2, 2025 |
| Meckel syndrome, type 2 | 1 | Nov 24, 2023 |
| Meckel syndrome, type 3 | 3 | Jul 28, 2025 |
| Meckel syndrome, type 4 | 4 | Dec 16, 2024 |
| Meckel syndrome, type 5 | 1 | Oct 19, 2023 |
| Meckel syndrome, type 6 | 4 | May 2, 2024 |
| Meckel syndrome, type 9 | 1 | Nov 24, 2023 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 5 | Jun 7, 2024 |
| Meester-Loeys syndrome | 1 | Aug 1, 2025 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 2 | Dec 31, 2024 |
| Megaconial type congenital muscular dystrophy | 4 | Nov 16, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | Dec 9, 2023 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | 2 | Dec 24, 2024 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Feb 2, 2022 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 3 | Jan 27, 2025 |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 1 | Oct 19, 2023 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 8 | May 2, 2025 |
| Menke-Hennekam syndrome 1 | 8 | May 2, 2025 |
| Menke-Hennekam syndrome 2 | 2 | Dec 16, 2024 |
| Menkes kinky-hair syndrome | 6 | Jan 20, 2025 |
| Merosin deficient congenital muscular dystrophy | 13 | Jan 20, 2025 |
| Metachromatic leukodystrophy | 21 | Aug 1, 2025 |
| Metaphyseal chondrodysplasia, Jansen type | 1 | Jan 20, 2025 |
| Metaphyseal chondrodysplasia, Schmid type | 2 | Aug 1, 2025 |
| Methylcobalamin deficiency type cblE | 1 | Oct 27, 2023 |
| Methylcobalamin deficiency type cblG | 2 | Jun 7, 2024 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 3 | Jan 27, 2025 |
| Methylmalonic aciduria and homocystinuria type cblD | 2 | Sep 5, 2024 |
| Methylmalonic aciduria and homocystinuria type cblF | 1 | Oct 27, 2023 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 6 | Jan 27, 2025 |
| Methylmalonic aciduria, cblB type | 2 | Sep 5, 2024 |
| Mevalonic aciduria | 2 | Dec 7, 2023 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | Nov 16, 2024 |
| Microcephalic osteodysplastic primordial dwarfism type II | 7 | Feb 11, 2025 |
| Microcephaly 13, primary, autosomal recessive | 2 | Feb 18, 2025 |
| Microcephaly 14, primary, autosomal recessive | 1 | Oct 19, 2023 |
| Microcephaly 15, primary, autosomal recessive | 1 | Feb 2, 2022 |
| Microcephaly 17, primary, autosomal recessive | 4 | May 2, 2025 |
| Microcephaly 18, primary, autosomal dominant | 1 | Nov 16, 2024 |
| Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 3 | Jan 31, 2025 |
| Microcephaly 20, primary, autosomal recessive | 2 | Nov 16, 2024 |
| Microcephaly 21, primary, autosomal recessive | 1 | Nov 23, 2023 |
| Microcephaly 22, primary, autosomal recessive | 1 | Jan 20, 2025 |
| Microcephaly 26, primary, autosomal dominant | 2 | May 2, 2024 |
| Microcephaly 27, primary, autosomal dominant | 2 | Jan 27, 2025 |
| Microcephaly 3, primary, autosomal recessive | 2 | May 2, 2024 |
| Microcephaly 30, primary, autosomal recessive | 2 | Nov 16, 2024 |
| Microcephaly 4, primary, autosomal recessive | 2 | Oct 19, 2023 |
| Microcephaly 5, primary, autosomal recessive | 9 | Dec 16, 2024 |
| Microcephaly 6, primary, autosomal recessive | 2 | Dec 16, 2024 |
| Microcephaly 7, primary, autosomal recessive | 2 | Dec 7, 2023 |
| Microcephaly 8, primary, autosomal recessive | 1 | Aug 1, 2025 |
| Microcephaly and chorioretinopathy 1 | 2 | Nov 16, 2024 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Jul 11, 2025 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 1 | Oct 19, 2023 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Sep 5, 2024 |
| Microcephaly, seizures, and developmental delay | 4 | Oct 19, 2023 |
| Microcephaly, short stature, and limb abnormalities | 2 | Dec 24, 2024 |
| Microcephaly-capillary malformation syndrome | 1 | Dec 9, 2023 |
| Microcephaly-thin corpus callosum-intellectual disability syndrome | 2 | Oct 19, 2023 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 5 | Aug 1, 2025 |
| Microphthalmia, isolated, with coloboma 3 | 1 | Sep 5, 2024 |
| Microphthalmia, syndromic 1 | 1 | Feb 11, 2025 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2 | Oct 19, 2023 |
| Migraine, familial hemiplegic, 1 | 4 | Jun 7, 2024 |
| Migraine, familial hemiplegic, 2 | 1 | Aug 1, 2025 |
| Miller syndrome | 1 | Oct 19, 2023 |
| Mismatch repair cancer syndrome 4 | 2 | Nov 16, 2024 |
| Mitchell syndrome | 1 | Oct 19, 2023 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Jan 27, 2025 |
| Mitochondrial DNA depletion syndrome 1 | 2 | May 2, 2025 |
| Mitochondrial DNA depletion syndrome 13 | 2 | Jun 7, 2024 |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 | Oct 19, 2023 |
| Mitochondrial DNA depletion syndrome 18 | 1 | Oct 4, 2024 |
| Mitochondrial DNA depletion syndrome 20 (mngie type) | 1 | Oct 19, 2023 |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 | Feb 2, 2022 |
| Mitochondrial DNA depletion syndrome 4b | 1 | May 2, 2024 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 6 | Jan 20, 2025 |
| Mitochondrial DNA depletion syndrome 8a | 2 | Jun 20, 2024 |
| Mitochondrial DNA depletion syndrome, myopathic form | 6 | Aug 1, 2025 |
| Mitochondrial complex 2 deficiency, nuclear type 2 | 1 | Oct 19, 2023 |
| Mitochondrial complex 2 deficiency, nuclear type 4 | 1 | Feb 2, 2022 |
| Mitochondrial complex I deficiency, nuclear type 1 | 2 | Dec 9, 2023 |
| Mitochondrial complex I deficiency, nuclear type 16 | 2 | Aug 1, 2025 |
| Mitochondrial complex I deficiency, nuclear type 17 | 3 | Oct 27, 2023 |
| Mitochondrial complex I deficiency, nuclear type 18 | 1 | Oct 19, 2023 |
| Mitochondrial complex I deficiency, nuclear type 19 | 1 | Oct 19, 2023 |
| Mitochondrial complex I deficiency, nuclear type 21 | 2 | Jul 28, 2025 |
| Mitochondrial complex I deficiency, nuclear type 22 | 1 | Jun 20, 2024 |
| Mitochondrial complex I deficiency, nuclear type 23 | 1 | Nov 16, 2024 |
| Mitochondrial complex I deficiency, nuclear type 26 | 1 | May 2, 2024 |
| Mitochondrial complex I deficiency, nuclear type 31 | 2 | May 2, 2025 |
| Mitochondrial complex I deficiency, nuclear type 4 | 8 | Jul 28, 2025 |
| Mitochondrial complex I deficiency, nuclear type 5 | 5 | Dec 7, 2023 |
| Mitochondrial complex I deficiency, nuclear type 7 | 2 | Apr 24, 2025 |
| Mitochondrial complex I deficiency, nuclear type 8 | 1 | Feb 2, 2022 |
| Mitochondrial complex II deficiency, nuclear type 1 | 1 | Dec 24, 2024 |
| Mitochondrial complex III deficiency nuclear type 2 | 4 | Nov 3, 2023 |
| Mitochondrial complex III deficiency nuclear type 8 | 1 | Jun 20, 2024 |
| Mitochondrial complex III deficiency, nuclear type 11 | 1 | Aug 1, 2025 |
| Mitochondrial complex IV deficiency, nuclear type 1 | 6 | Jun 20, 2024 |
| Mitochondrial complex IV deficiency, nuclear type 12 | 1 | Nov 16, 2024 |
| Mitochondrial complex IV deficiency, nuclear type 23 | 1 | Nov 16, 2024 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | 1 | May 2, 2024 |
| Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) | 1 | Feb 18, 2025 |
| Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 4 | Aug 1, 2025 |
| Mitochondrial pyruvate carrier deficiency | 1 | Oct 27, 2023 |
| Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 3 | Aug 1, 2025 |
| Miyoshi muscular dystrophy 1 | 5 | Oct 19, 2023 |
| Monocytopenia with susceptibility to infections | 1 | Oct 19, 2023 |
| Mosaic variegated aneuploidy syndrome 1 | 1 | Oct 19, 2023 |
| Mowat-Wilson syndrome | 10 | Aug 1, 2025 |
| Moyamoya disease 2 | 8 | Sep 5, 2024 |
| Moyamoya disease with early-onset achalasia | 1 | Nov 16, 2024 |
| Mucolipidosis type II | 7 | Jul 28, 2025 |
| Mucolipidosis type IV | 1 | Jun 20, 2024 |
| Mucopolysaccharidosis type 6 | 5 | Jan 20, 2025 |
| Mucopolysaccharidosis type 7 | 2 | Jun 7, 2024 |
| Mucopolysaccharidosis, MPS-I-H/S | 4 | Dec 16, 2024 |
| Mucopolysaccharidosis, MPS-I-S | 3 | Dec 16, 2024 |
| Mucopolysaccharidosis, MPS-II | 11 | Feb 11, 2025 |
| Mucopolysaccharidosis, MPS-III-A | 11 | Feb 18, 2025 |
| Mucopolysaccharidosis, MPS-III-B | 4 | Jan 31, 2025 |
| Mucopolysaccharidosis, MPS-III-C | 2 | May 2, 2024 |
| Mucopolysaccharidosis, MPS-IV-A | 35 | Jul 28, 2025 |
| Mucopolysaccharidosis, type 10 | 2 | Nov 16, 2024 |
| Muir-Torré syndrome | 7 | Jul 28, 2025 |
| Mulibrey nanism syndrome | 1 | Jun 7, 2024 |
| Mullegama-Klein-Martinez syndrome | 3 | Feb 11, 2025 |
| Multicentric osteolysis, nodulosis, and arthropathy | 3 | May 2, 2025 |
| Multiple acyl-CoA dehydrogenase deficiency | 5 | Aug 1, 2025 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 1 | Oct 27, 2023 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | Jan 27, 2025 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 3 | Jul 11, 2025 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 3 | Aug 1, 2025 |
| Multiple congenital exostosis | 1 | Feb 2, 2022 |
| Multiple endocrine neoplasia type 2A | 1 | Oct 4, 2024 |
| Multiple endocrine neoplasia, type 1 | 2 | Aug 1, 2025 |
| Multiple epiphyseal dysplasia type 1 | 3 | Jun 20, 2024 |
| Multiple epiphyseal dysplasia type 5 | 2 | Jan 20, 2025 |
| Multiple gastrointestinal atresias | 1 | Feb 2, 2022 |
| Multiple mitochondrial dysfunctions syndrome 2 | 4 | May 2, 2025 |
| Multiple mitochondrial dysfunctions syndrome 3 | 5 | Aug 1, 2025 |
| Multiple mitochondrial dysfunctions syndrome 4 | 2 | Jun 7, 2024 |
| Multiple mitochondrial dysfunctions syndrome 5 | 1 | Oct 19, 2023 |
| Multiple mitochondrial dysfunctions syndrome 6 | 4 | Dec 16, 2024 |
| Multiple sulfatase deficiency | 3 | Jan 20, 2025 |
| Muscle AMP deaminase deficiency | 2 | Nov 16, 2024 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 2 | May 2, 2025 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2 | Jun 7, 2024 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 14 | Apr 24, 2025 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 1 | Oct 4, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Dec 16, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 1 | Sep 5, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 2 | Jan 20, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 3 | Jan 27, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 3 | Aug 1, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Oct 19, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 3 | Aug 1, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Jun 13, 2024 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2 | Dec 16, 2024 |
| Muscular dystrophy-dystroglycanopathy type B6 | 4 | Jul 28, 2025 |
| Myasthenic syndrome, congenital, 1B, fast-channel | 2 | May 2, 2024 |
| Myasthenic syndrome, congenital, 23, presynaptic | 1 | Jan 27, 2025 |
| Myasthenic syndrome, congenital, 24, presynaptic | 2 | Dec 12, 2023 |
| Myoclonic dystonia 11 | 2 | Jan 27, 2025 |
| Myoclonic dystonia 26 | 1 | Jun 7, 2024 |
| Myoclonic epilepsy of Lafora 1 | 3 | Nov 16, 2024 |
| Myoclonus, intractable, neonatal | 4 | May 2, 2025 |
| Myofibrillar myopathy 3 | 2 | Sep 5, 2024 |
| Myofibrillar myopathy 4 | 1 | Oct 19, 2023 |
| Myofibrillar myopathy 5 | 1 | Jan 27, 2025 |
| Myofibrillar myopathy 6 | 5 | May 2, 2025 |
| Myofibrillar myopathy 8 | 1 | Oct 19, 2023 |
| Myopathy, centronuclear, 5 | 3 | Jan 27, 2025 |
| Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | 1 | Sep 5, 2024 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 1 | Dec 7, 2023 |
| Myopathy, congenital, with tremor | 1 | Jun 7, 2024 |
| Myopathy, distal, 5 | 2 | Aug 1, 2025 |
| Myopathy, distal, with rimmed vacuoles | 1 | Oct 19, 2023 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 1 | May 2, 2024 |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 | 1 | Nov 16, 2024 |
| Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 | Nov 16, 2024 |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 | Jan 27, 2025 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 4 | Dec 16, 2024 |
| Myopathy, proximal, and ophthalmoplegia | 3 | Feb 11, 2025 |
| Myopathy, tubular aggregate, 1 | 1 | Oct 19, 2023 |
| Myosclerosis | 1 | Dec 7, 2023 |
| Myosin storage myopathy | 4 | Jul 28, 2025 |
| NAD(P)HX dehydratase deficiency | 3 | Sep 5, 2024 |
| NPHP3-related Meckel-like syndrome | 1 | Oct 19, 2023 |
| Nager syndrome | 1 | May 2, 2025 |
| Nail-patella syndrome | 1 | Feb 2, 2022 |
| Nance-Horan syndrome | 1 | Jan 27, 2025 |
| Nemaline myopathy 10 | 1 | Dec 9, 2023 |
| Nemaline myopathy 2 | 15 | May 2, 2025 |
| Nemaline myopathy 5 | 2 | May 2, 2024 |
| Nemaline myopathy 6 | 2 | Jun 13, 2024 |
| Nemaline myopathy 8 | 4 | Aug 1, 2025 |
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 2 | Dec 24, 2024 |
| Neonatal ichthyosis-sclerosing cholangitis syndrome | 1 | Aug 11, 2025 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 2 | Nov 16, 2024 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 2 | Aug 1, 2025 |
| Neonatal severe primary hyperparathyroidism | 1 | Oct 19, 2023 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Dec 12, 2023 |
| Nephrolithiasis susceptibility caused by SLC26A1 | 3 | Jan 20, 2025 |
| Nephronophthisis 1 | 2 | Jun 7, 2024 |
| Nephronophthisis 11 | 1 | Jan 31, 2025 |
| Nephronophthisis 13 | 2 | Jun 13, 2024 |
| Nephronophthisis 14 | 3 | May 2, 2024 |
| Nephronophthisis 15 | 1 | Oct 19, 2023 |
| Nephronophthisis 20 | 1 | Dec 24, 2024 |
| Nephronophthisis 3 | 1 | Jan 31, 2025 |
| Nephronophthisis 4 | 5 | Jan 27, 2025 |
| Nephronophthisis-like nephropathy 1 | 1 | Oct 4, 2024 |
| Nephropathic cystinosis | 7 | Dec 24, 2024 |
| Nephrotic syndrome | 1 | Feb 2, 2022 |
| Nephrotic syndrome, IIa 26 | 2 | Dec 16, 2024 |
| Nephrotic syndrome, type 12 | 4 | Feb 20, 2025 |
| Nephrotic syndrome, type 2 | 8 | Aug 1, 2025 |
| Nephrotic syndrome, type 20 | 2 | Oct 19, 2023 |
| Nephrotic syndrome, type 3 | 7 | Jan 20, 2025 |
| Nephrotic syndrome, type 4 | 4 | Aug 1, 2025 |
| Nephrotic syndrome, type 9 | 1 | Nov 16, 2024 |
| Netherton syndrome | 3 | Aug 1, 2025 |
| Neu-Laxova syndrome 1 | 1 | Sep 5, 2024 |
| Neural tube defects, susceptibility to | 1 | Dec 16, 2024 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | Oct 19, 2023 |
| Neurodegeneration with brain iron accumulation 2B | 10 | Aug 1, 2025 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Oct 19, 2023 |
| Neurodegeneration with brain iron accumulation 5 | 3 | Jan 20, 2025 |
| Neurodegeneration with brain iron accumulation 6 | 3 | Aug 1, 2025 |
| Neurodegeneration with brain iron accumulation 8 | 2 | Dec 16, 2024 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Oct 19, 2023 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 3 | May 2, 2025 |
| Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities | 1 | Jan 27, 2025 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 1 | Oct 4, 2024 |
| Neurodevelopmental disorder with absent language and variable seizures | 1 | Jan 27, 2025 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 2 | Jun 7, 2024 |
| Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 1 | Jan 27, 2025 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 3 | Jan 20, 2025 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 1 | Jun 13, 2024 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 6 | Aug 1, 2025 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 3 | Nov 24, 2023 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 3 | Aug 1, 2025 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 3 | Jan 31, 2025 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 8 | Jan 27, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | 2 | Oct 4, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 7 | May 2, 2025 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Oct 4, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | 3 | Dec 16, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | 2 | Feb 18, 2025 |
| Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities | 2 | Aug 1, 2025 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 2 | Dec 16, 2024 |
| Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | 3 | Nov 23, 2023 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 1 | Dec 16, 2024 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 2 | Feb 11, 2025 |
| Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | 1 | May 2, 2025 |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | 1 | Jun 7, 2024 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 1 | May 2, 2025 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 3 | Dec 31, 2024 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 2 | May 2, 2025 |
| Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Jan 27, 2025 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 3 | Aug 1, 2025 |
| Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | 1 | Sep 5, 2024 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 2 | Aug 1, 2025 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 4 | Nov 24, 2023 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 11 | Jan 27, 2025 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 2 | Oct 19, 2023 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 2 | Jan 27, 2025 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 4 | Jan 27, 2025 |
| Neurodevelopmental disorder with infantile epileptic spasms | 1 | Dec 16, 2024 |
| Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | 1 | Aug 1, 2025 |
| Neurodevelopmental disorder with involuntary movements | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with language delay and variable cognitive abnormalities | 1 | Aug 1, 2025 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 4 | Jan 27, 2025 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 2 | Jan 20, 2025 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 2 | Feb 18, 2024 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | Dec 16, 2024 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 2 | Nov 16, 2024 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 1 | Jul 11, 2025 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 2 | Jan 20, 2025 |
| Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | 1 | Sep 5, 2024 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 4 | Jan 27, 2025 |
| Neurodevelopmental disorder with microcephaly, short stature, and speech delay | 1 | Oct 19, 2023 |
| Neurodevelopmental disorder with midbrain and hindbrain malformations | 1 | May 2, 2024 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 2 | Jun 7, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 3 | Apr 24, 2025 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 7 | May 2, 2025 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Jun 7, 2024 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 15 | Jan 27, 2025 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 4 | Nov 16, 2024 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 6 | Feb 11, 2025 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 10 | Jan 27, 2025 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 11 | Aug 1, 2025 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 3 | Nov 16, 2024 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Nov 16, 2024 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 6 | Aug 1, 2025 |
| Neurodevelopmental disorder with seizures and brain atrophy | 1 | Sep 5, 2024 |
| Neurodevelopmental disorder with seizures and gingival overgrowth | 1 | Sep 5, 2024 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 | Dec 7, 2023 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 1 | Aug 1, 2025 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 4 | Nov 16, 2024 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 1 | Jan 27, 2025 |
| Neurodevelopmental disorder with speech delay and variable ocular anomalies | 2 | Aug 1, 2025 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 10 | May 2, 2025 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 4 | May 2, 2025 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 1 | Nov 16, 2024 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 3 | Jan 27, 2025 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 1 | Feb 2, 2022 |
| Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 5 | Jan 27, 2025 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 2 | Dec 16, 2024 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 4 | May 2, 2025 |
| Neurofibromatosis, type 1 | 30 | May 2, 2025 |
| Neurofibromatosis, type 2 | 1 | Sep 5, 2024 |
| Neurofibromatosis-Noonan syndrome | 4 | Jan 20, 2025 |
| Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 2 | Jan 27, 2025 |
| Neuromuscular disease | 1 | Jan 9, 2023 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 2 | Nov 16, 2024 |
| Neuronal ceroid lipofuscinosis 1 | 2 | Nov 16, 2024 |
| Neuronal ceroid lipofuscinosis 2 | 9 | Aug 1, 2025 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Nov 24, 2023 |
| Neuronal ceroid lipofuscinosis 5 | 5 | Jan 20, 2025 |
| Neuronal ceroid lipofuscinosis 7 | 7 | Dec 16, 2024 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Jan 9, 2023 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 2 | Jun 7, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 1 | Jun 20, 2024 |
| Neuronopathy, distal hereditary motor, type 2C | 1 | Jul 11, 2025 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Feb 2, 2022 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Feb 2, 2022 |
| Neuronopathy, distal hereditary motor, type 5C | 1 | Dec 7, 2023 |
| Neuronopathy, distal hereditary motor, type 7B | 2 | Oct 27, 2023 |
| Neuronopathy, distal hereditary motor, type 9 | 1 | May 2, 2024 |
| Neuroocular syndrome 1 | 2 | Jan 27, 2025 |
| Neuropathy, congenital hypomyelinating, 3 | 2 | May 2, 2025 |
| Neuropathy, hereditary motor and sensory, type 6A | 3 | Jul 28, 2025 |
| Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | 1 | Aug 1, 2025 |
| Neuropathy, hereditary sensory, type 1F | 1 | Dec 16, 2024 |
| Neuropathy, hereditary sensory, type 2C | 1 | Nov 16, 2024 |
| Neutropenia, severe congenital, 1, autosomal dominant | 1 | Nov 16, 2024 |
| Neutropenia, severe congenital, 8, autosomal dominant | 1 | Dec 12, 2023 |
| Nicolaides-Baraitser syndrome | 2 | Jan 27, 2025 |
| Niemann-Pick disease, type A | 8 | Apr 24, 2025 |
| Niemann-Pick disease, type B | 5 | Nov 16, 2024 |
| Niemann-Pick disease, type C1 | 21 | Aug 1, 2025 |
| Niemann-Pick disease, type C2 | 3 | Sep 5, 2024 |
| Nijmegen breakage syndrome-like disorder | 2 | Oct 27, 2023 |
| Nizon-Isidor syndrome | 3 | Dec 31, 2024 |
| Noonan syndrome 1 | 12 | Aug 1, 2025 |
| Noonan syndrome 10 | 6 | Dec 16, 2024 |
| Noonan syndrome 11 | 2 | Nov 16, 2024 |
| Noonan syndrome 12 | 1 | Nov 16, 2024 |
| Noonan syndrome 2 | 5 | Dec 16, 2024 |
| Noonan syndrome 4 | 6 | Dec 16, 2024 |
| Noonan syndrome 5 | 4 | Jan 20, 2025 |
| Noonan syndrome 7 | 2 | Oct 19, 2023 |
| Noonan syndrome 8 | 2 | Aug 1, 2025 |
| Noonan syndrome 9 | 2 | Jan 20, 2025 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Nov 24, 2023 |
| Normal pressure hydrocephalus | 2 | Jan 27, 2025 |
| Norum disease | 1 | Oct 19, 2023 |
| Nystagmus 1, congenital, X-linked | 1 | Aug 1, 2025 |
| O'Donnell-Luria-Rodan syndrome | 12 | May 2, 2025 |
| OSTC-related Disorders | 1 | Aug 12, 2025 |
| Obesity due to CEP19 deficiency | 1 | Nov 16, 2024 |
| Obesity due to congenital leptin deficiency | 1 | Jun 7, 2024 |
| Obesity due to prohormone convertase I deficiency | 1 | Jan 20, 2025 |
| Occipital pachygyria and polymicrogyria | 2 | Jan 20, 2025 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Dec 24, 2024 |
| Oculocutaneous albinism type 1A | 8 | Jul 28, 2025 |
| Oculocutaneous albinism type 1B | 4 | Jan 31, 2025 |
| Oculocutaneous albinism type 3 | 1 | Oct 27, 2023 |
| Oculocutaneous albinism type 4 | 3 | Aug 1, 2025 |
| Oculodentodigital dysplasia, autosomal recessive | 1 | Aug 1, 2025 |
| Oculofaciocardiodental syndrome | 1 | Oct 19, 2023 |
| Oculogastrointestinal-neurodevelopmental syndrome | 1 | Jun 13, 2024 |
| Oculotrichoanal syndrome | 1 | Aug 1, 2025 |
| Odontochondrodysplasia 1 | 1 | Dec 9, 2023 |
| Odontochondrodysplasia 2 with hearing loss and diabetes | 1 | Jun 13, 2024 |
| Oguchi disease-1 | 1 | Feb 2, 2022 |
| Oguchi disease-2 | 2 | Jan 20, 2025 |
| Okur-Chung neurodevelopmental syndrome | 2 | Jun 20, 2024 |
| Oligodontia-cancer predisposition syndrome | 1 | Dec 7, 2023 |
| Oocyte maturation defect 3 | 1 | Nov 23, 2023 |
| Opsismodysplasia | 2 | May 2, 2024 |
| Optic atrophy 3 | 1 | Aug 1, 2025 |
| Ornithine aminotransferase deficiency | 1 | Oct 19, 2023 |
| Ornithine carbamoyltransferase deficiency | 7 | Dec 16, 2024 |
| Orofaciodigital syndrome 16 | 1 | Aug 1, 2025 |
| Orofaciodigital syndrome I | 1 | Nov 16, 2024 |
| Orofaciodigital syndrome type 14 | 4 | Jun 7, 2024 |
| Orofaciodigital syndrome type 6 | 1 | Dec 7, 2023 |
| Osteogenesis imperfecta type 10 | 1 | Oct 19, 2023 |
| Osteogenesis imperfecta type 11 | 3 | Oct 4, 2024 |
| Osteogenesis imperfecta type 15 | 1 | Jan 27, 2025 |
| Osteogenesis imperfecta type 16 | 1 | Apr 24, 2025 |
| Osteogenesis imperfecta type 6 | 2 | Oct 27, 2023 |
| Osteogenesis imperfecta type 7 | 2 | Oct 19, 2023 |
| Osteogenesis imperfecta type 8 | 8 | Jan 1, 2025 |
| Osteogenesis imperfecta type I | 5 | Jan 27, 2025 |
| Osteogenesis imperfecta type III | 2 | Jun 7, 2024 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 3 | Oct 4, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 6 | Jan 20, 2025 |
| Osteopathia striata with cranial sclerosis | 2 | Jan 27, 2025 |
| Osteopetrosis, autosomal dominant 3 | 1 | Jan 27, 2025 |
| Osteoporosis | 1 | Dec 12, 2023 |
| Osteoporosis with pseudoglioma | 3 | Nov 16, 2024 |
| Osteosclerotic metaphyseal dysplasia | 1 | Jan 31, 2025 |
| Otofaciocervical syndrome 2 | 1 | Oct 19, 2023 |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2 | Oct 19, 2023 |
| Ovarian dysgenesis 9 | 1 | Nov 23, 2023 |
| Oxoglutaricaciduria | 1 | Oct 4, 2024 |
| PERCHING syndrome | 2 | Aug 1, 2025 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 3 | Jan 27, 2025 |
| PLIN1-related familial partial lipodystrophy | 1 | Jul 28, 2025 |
| PMM2-congenital disorder of glycosylation | 2 | Oct 4, 2024 |
| PPARG-related familial partial lipodystrophy | 1 | Aug 1, 2025 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Jan 20, 2025 |
| PYCR1-related de Barsy syndrome | 2 | May 2, 2025 |
| Pachyonychia congenita 3 | 4 | Dec 24, 2024 |
| Paganini-Miozzo syndrome | 1 | Jun 7, 2024 |
| Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | 1 | Jan 27, 2025 |
| Pallister-Hall syndrome | 2 | Jan 27, 2025 |
| Palmoplantar keratoderma, nonepidermolytic, focal 1 | 1 | Dec 7, 2023 |
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | 1 | Oct 19, 2023 |
| Palmoplantar keratoderma-deafness syndrome | 1 | Oct 27, 2023 |
| Palmoplantar keratoderma-esophageal carcinoma syndrome | 1 | Jun 20, 2024 |
| Pancreatic cancer, susceptibility to, 1 | 2 | May 2, 2025 |
| Pancreatic cancer, susceptibility to, 3 | 1 | Oct 19, 2023 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Oct 4, 2024 |
| Pancytopenia due to IKZF1 mutations | 1 | Jun 7, 2024 |
| Pancytopenia-developmental delay syndrome | 1 | Oct 27, 2023 |
| Panhypopituitarism, X-linked | 1 | Aug 1, 2025 |
| Papillary renal cell carcinoma type 1 | 1 | Oct 19, 2023 |
| Paramyotonia congenita of Von Eulenburg | 3 | Sep 5, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 4 | Apr 24, 2025 |
| Parkinson disease 18, autosomal dominant, susceptibility to | 3 | May 2, 2024 |
| Parkinson disease 24, autosomal dominant, susceptibility to | 1 | Oct 19, 2023 |
| Parkinson disease, late-onset | 7 | Nov 16, 2024 |
| Parkinsonian-pyramidal syndrome | 2 | Jun 20, 2024 |
| Parkinsonism with polyneuropathy | 5 | Aug 1, 2025 |
| Paroxysmal nonkinesigenic dyskinesia 1 | 4 | Jun 7, 2024 |
| Partial androgen insensitivity syndrome | 3 | Jan 20, 2025 |
| Patterned macular dystrophy 3 | 1 | Oct 27, 2023 |
| Peeling skin syndrome 1 | 1 | Dec 24, 2024 |
| Peeling skin syndrome 5 | 1 | Oct 19, 2023 |
| Peeling skin syndrome 6 | 1 | Nov 16, 2024 |
| Pelizaeus-Merzbacher disease | 3 | Aug 1, 2025 |
| Pendred syndrome | 2 | Jan 20, 2025 |
| Periodic fever-infantile enterocolitis-autoinflammatory syndrome | 1 | Dec 7, 2023 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 1 | Oct 19, 2023 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 3 | Dec 16, 2024 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Oct 19, 2023 |
| Periventricular nodular heterotopia 7 | 1 | Jun 20, 2024 |
| Periventricular nodular heterotopia 9 | 4 | Jan 27, 2025 |
| Perlman syndrome | 1 | Oct 19, 2023 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 1 | Oct 27, 2023 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 2 | Sep 5, 2024 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 3 | Jan 31, 2025 |
| Peroxisome biogenesis disorder 14B | 2 | Nov 3, 2023 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Jan 9, 2023 |
| Peroxisome biogenesis disorder 1B | 1 | Oct 19, 2023 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 7 | Aug 1, 2025 |
| Peroxisome biogenesis disorder 4B | 4 | Jan 20, 2025 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 1 | Feb 2, 2022 |
| Peroxisome biogenesis disorder 7B | 1 | Dec 16, 2024 |
| Peroxisome biogenesis disorder 8B | 2 | Jan 27, 2025 |
| Peroxisome biogenesis disorder type 3B | 1 | Oct 19, 2023 |
| Perrault syndrome 4 | 1 | Oct 19, 2023 |
| Perrault syndrome 5 | 1 | Nov 24, 2023 |
| Pettigrew syndrome | 2 | May 2, 2025 |
| Peutz-Jeghers syndrome | 5 | Jan 27, 2025 |
| Pfeiffer syndrome | 2 | Oct 19, 2023 |
| Phelan-McDermid syndrome | 2 | Dec 7, 2023 |
| Phenylketonuria | 10 | May 2, 2025 |
| Pheochromocytoma | 1 | Dec 7, 2023 |
| Pheochromocytoma/paraganglioma syndrome 1 | 1 | May 2, 2024 |
| Pheochromocytoma/paraganglioma syndrome 3 | 1 | Oct 19, 2023 |
| Pierson syndrome | 5 | Jan 20, 2025 |
| Pigmentary pallidal degeneration | 15 | Aug 1, 2025 |
| Pigmented paravenous retinochoroidal atrophy | 1 | May 2, 2025 |
| Pilarowski-Bjornsson syndrome | 2 | Jan 27, 2025 |
| Pili torti-developmental delay-neurological abnormalities syndrome | 1 | Oct 19, 2023 |
| Pitt-Hopkins syndrome | 1 | Jan 20, 2025 |
| Pitt-Hopkins-like syndrome 2 | 1 | Nov 16, 2024 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 2 | Aug 1, 2025 |
| Platelet-type bleeding disorder 10 | 7 | Jan 20, 2025 |
| Platelet-type bleeding disorder 15 | 1 | Dec 7, 2023 |
| Platelet-type bleeding disorder 16 | 4 | Dec 7, 2023 |
| Platelet-type bleeding disorder 17 | 1 | Oct 19, 2023 |
| Platelet-type bleeding disorder 18 | 1 | Nov 3, 2023 |
| Platelet-type bleeding disorder 20 | 3 | Nov 24, 2023 |
| Poirier-Bienvenu neurodevelopmental syndrome | 2 | Sep 5, 2024 |
| Polycystic kidney disease 2 | 3 | Dec 16, 2024 |
| Polycystic kidney disease 4 | 34 | Aug 1, 2025 |
| Polycystic kidney disease 5 | 2 | Oct 19, 2023 |
| Polycystic kidney disease, adult type | 29 | Aug 1, 2025 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 1 | Dec 16, 2024 |
| Polycystic liver disease 1 | 1 | May 2, 2024 |
| Polycystic liver disease 3 with or without kidney cysts | 1 | Feb 2, 2022 |
| Polydactyly, postaxial, type A1 | 2 | May 2, 2024 |
| Polydactyly, postaxial, type A8 | 1 | Dec 16, 2024 |
| Polyglandular autoimmune syndrome, type 1 | 8 | Feb 18, 2024 |
| Polymicrogyria, bilateral perisylvian, autosomal recessive | 1 | Oct 19, 2023 |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 1 | May 2, 2024 |
| Pontocerebellar hypoplasia type 10 | 2 | Oct 19, 2023 |
| Pontocerebellar hypoplasia type 1A | 1 | May 2, 2025 |
| Pontocerebellar hypoplasia type 1B | 2 | Sep 5, 2024 |
| Pontocerebellar hypoplasia type 2C | 1 | Oct 4, 2024 |
| Pontocerebellar hypoplasia type 2D | 2 | Jan 9, 2023 |
| Pontocerebellar hypoplasia type 3 | 5 | Jan 20, 2025 |
| Pontocerebellar hypoplasia type 6 | 4 | Oct 4, 2024 |
| Pontocerebellar hypoplasia type 7 | 2 | May 2, 2025 |
| Pontocerebellar hypoplasia type 9 | 2 | Oct 4, 2024 |
| Pontocerebellar hypoplasia, type 12 | 1 | Jun 20, 2024 |
| Pontocerebellar hypoplasia, type 14 | 2 | Nov 16, 2024 |
| Pontocerebellar hypoplasia, type 15 | 1 | Sep 5, 2024 |
| Pontocerebellar hypoplasia, type 16 | 1 | Jun 7, 2024 |
| Pontocerebellar hypoplasia, type 1C | 1 | Jun 7, 2024 |
| Pontocerebellar hypoplasia, type 1E | 1 | Dec 16, 2024 |
| Porencephaly 2 | 1 | Sep 5, 2024 |
| Porencephaly-microcephaly-bilateral congenital cataract syndrome | 2 | Nov 24, 2023 |
| Porokeratosis 7, multiple types | 1 | Oct 19, 2023 |
| Portal hypertension, noncirrhotic, 2 | 1 | Dec 12, 2023 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Feb 18, 2024 |
| Potassium-aggravated myotonia | 1 | Feb 2, 2022 |
| Pregnancy loss, recurrent, susceptibility to, 1 | 1 | May 2, 2024 |
| Pregnancy loss, recurrent, susceptibility to, 3 | 1 | May 2, 2024 |
| Premature ovarian failure 11 | 1 | Oct 19, 2023 |
| Premature ovarian failure 15 | 4 | Feb 11, 2025 |
| Premature ovarian failure 5 | 1 | Nov 24, 2023 |
| Premature ovarian failure 9 | 1 | Oct 27, 2023 |
| Presynaptic congenital myasthenic syndrome | 2 | Feb 2, 2022 |
| Primary CD59 deficiency | 1 | Oct 19, 2023 |
| Primary ciliary dyskinesia 10 | 1 | May 2, 2024 |
| Primary ciliary dyskinesia 11 | 1 | Jun 13, 2024 |
| Primary ciliary dyskinesia 14 | 3 | Apr 24, 2025 |
| Primary ciliary dyskinesia 15 | 1 | May 2, 2024 |
| Primary ciliary dyskinesia 17 | 1 | Nov 24, 2023 |
| Primary ciliary dyskinesia 18 | 1 | Jun 7, 2024 |
| Primary ciliary dyskinesia 21 | 2 | Oct 4, 2024 |
| Primary ciliary dyskinesia 25 | 1 | May 2, 2025 |
| Primary ciliary dyskinesia 27 | 1 | Oct 4, 2024 |
| Primary ciliary dyskinesia 28 | 2 | Jun 13, 2024 |
| Primary ciliary dyskinesia 29 | 4 | Apr 24, 2025 |
| Primary ciliary dyskinesia 3 | 12 | Jan 27, 2025 |
| Primary ciliary dyskinesia 30 | 2 | Jan 20, 2025 |
| Primary ciliary dyskinesia 32 | 1 | Aug 1, 2025 |
| Primary ciliary dyskinesia 5 | 12 | Dec 16, 2024 |
| Primary ciliary dyskinesia 7 | 9 | Aug 1, 2025 |
| Primary coenzyme Q10 deficiency 8 | 2 | Oct 19, 2023 |
| Primary erythromelalgia | 1 | Oct 27, 2023 |
| Primary familial polycythemia due to EPO receptor mutation | 3 | May 2, 2024 |
| Primary hyperoxaluria type 3 | 3 | May 2, 2025 |
| Primary hyperoxaluria, type I | 10 | May 2, 2025 |
| Primary hyperoxaluria, type II | 4 | Jan 31, 2025 |
| Primary hypomagnesemia | 2 | Oct 4, 2024 |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 1 | Jun 20, 2024 |
| Primrose syndrome | 2 | Jan 27, 2025 |
| Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 | Oct 19, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 2 | Oct 19, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 3 | Oct 4, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 2 | Oct 27, 2023 |
| Progressive familial heart block type IB | 3 | Jan 27, 2025 |
| Progressive familial heart block, type 1A | 1 | Jul 11, 2025 |
| Progressive familial intrahepatic cholestasis type 1 | 7 | Oct 4, 2024 |
| Progressive familial intrahepatic cholestasis type 2 | 18 | May 2, 2025 |
| Progressive familial intrahepatic cholestasis type 3 | 10 | May 2, 2025 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | Jan 20, 2025 |
| Progressive myoclonic epilepsy type 3 | 2 | Dec 7, 2023 |
| Progressive myoclonic epilepsy type 7 | 2 | Aug 1, 2025 |
| Progressive pseudorheumatoid dysplasia | 5 | Dec 31, 2024 |
| Progressive sclerosing poliodystrophy | 2 | Dec 7, 2023 |
| Prolidase deficiency | 3 | Jan 27, 2025 |
| Propionic acidemia | 14 | May 2, 2025 |
| Prostate cancer | 1 | Dec 7, 2023 |
| Prostate cancer, hereditary, 1 | 1 | Feb 18, 2024 |
| Proteasome-associated autoinflammatory syndrome 1 | 1 | Jun 7, 2024 |
| Protein-losing enteropathy | 1 | Jun 20, 2024 |
| Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 1 | Dec 7, 2023 |
| Proximal myopathy with extrapyramidal signs | 2 | May 2, 2025 |
| Pseudo-Hurler polydystrophy | 3 | Apr 24, 2025 |
| Pseudo-TORCH syndrome 1 | 3 | Dec 12, 2023 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2 | Oct 27, 2023 |
| Pseudohypoaldosteronism type 2B | 1 | Dec 16, 2024 |
| Pseudohypoaldosteronism type 2C | 1 | Feb 11, 2025 |
| Pseudohypoaldosteronism, type IB1, autosomal recessive | 1 | Oct 27, 2023 |
| Pseudohypoparathyroidism type I A | 2 | Dec 12, 2023 |
| Pseudopseudohypoparathyroidism | 1 | Jun 7, 2024 |
| Pseudoxanthoma elasticum, forme fruste | 1 | Jun 7, 2024 |
| Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | 1 | Jan 9, 2023 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | May 2, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Oct 19, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2 | Jan 27, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Nov 24, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | 1 | May 2, 2024 |
| Pulmonary hypertension, primary, 3 | 1 | Oct 27, 2023 |
| Pyknodysostosis | 3 | Jan 27, 2025 |
| Pyridoxal phosphate-responsive seizures | 4 | Aug 1, 2025 |
| Pyridoxine-dependent epilepsy | 4 | Nov 16, 2024 |
| Pyropoikilocytosis, hereditary | 2 | Oct 19, 2023 |
| Pyruvate carboxylase deficiency | 2 | Jun 7, 2024 |
| Pyruvate dehydrogenase E1-alpha deficiency | 5 | Jan 27, 2025 |
| Pyruvate dehydrogenase E2 deficiency | 2 | Jan 27, 2025 |
| Pyruvate dehydrogenase E3 deficiency | 1 | Jan 27, 2025 |
| Pyruvate kinase deficiency of red cells | 8 | Jan 20, 2025 |
| Rabin-Pappas syndrome | 1 | Nov 16, 2024 |
| Radio-Tartaglia syndrome | 3 | Nov 16, 2024 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 3 | Aug 1, 2025 |
| Rajab interstitial lung disease with brain calcifications 1 | 1 | Aug 1, 2025 |
| Rauch-Steindl syndrome | 1 | Dec 16, 2024 |
| Recessive dystrophic epidermolysis bullosa | 38 | Feb 11, 2025 |
| Recurrent Neisseria infections due to factor D deficiency | 2 | May 2, 2025 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 4 | Jan 27, 2025 |
| Renal carnitine transport defect | 4 | Dec 24, 2024 |
| Renal coloboma syndrome | 6 | Nov 16, 2024 |
| Renal cysts and diabetes syndrome | 7 | Aug 1, 2025 |
| Renal hypodysplasia/aplasia 1 | 2 | Oct 27, 2023 |
| Renal hypodysplasia/aplasia 3 | 2 | Jan 27, 2025 |
| Renal hypodysplasia/aplasia 4 | 1 | Dec 24, 2024 |
| Renal hypomagnesemia 5 with ocular involvement | 3 | Jun 7, 2024 |
| Renal tubular acidosis with progressive nerve deafness | 5 | Jan 27, 2025 |
| Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | 14 | Aug 1, 2025 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 4 | May 2, 2025 |
| Renal tubular dysgenesis of genetic origin | 8 | Dec 16, 2024 |
| Renal-hepatic-pancreatic dysplasia 1 | 3 | Oct 19, 2023 |
| Renal-hepatic-pancreatic dysplasia 2 | 4 | Aug 1, 2025 |
| Renpenning syndrome | 2 | Sep 5, 2024 |
| Respiratory infections, recurrent, and failure to thrive with or without diarrhea | 1 | Sep 5, 2024 |
| Restrictive dermopathy 1 | 1 | Nov 16, 2024 |
| Reticular dysgenesis | 1 | May 2, 2025 |
| Retinal dystrophy with leukodystrophy | 1 | Oct 4, 2024 |
| Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 | Jun 7, 2024 |
| Retinitis pigmentosa 1 | 4 | Jul 28, 2025 |
| Retinitis pigmentosa 10 | 1 | Aug 1, 2025 |
| Retinitis pigmentosa 11 | 1 | Dec 7, 2023 |
| Retinitis pigmentosa 12 | 1 | Nov 24, 2023 |
| Retinitis pigmentosa 14 | 1 | Feb 2, 2022 |
| Retinitis pigmentosa 19 | 3 | Sep 5, 2024 |
| Retinitis pigmentosa 20 | 4 | May 2, 2025 |
| Retinitis pigmentosa 25 | 2 | Oct 19, 2023 |
| Retinitis pigmentosa 33 | 1 | Oct 4, 2024 |
| Retinitis pigmentosa 38 | 1 | Jan 27, 2025 |
| Retinitis pigmentosa 39 | 5 | Jun 13, 2024 |
| Retinitis pigmentosa 41 | 1 | Oct 19, 2023 |
| Retinitis pigmentosa 44 | 3 | Nov 16, 2024 |
| Retinitis pigmentosa 48 | 1 | Jun 7, 2024 |
| Retinitis pigmentosa 49 | 1 | Dec 12, 2023 |
| Retinitis pigmentosa 56 | 1 | Apr 24, 2025 |
| Retinitis pigmentosa 7 | 1 | Sep 5, 2024 |
| Retinitis pigmentosa 78 | 1 | Dec 24, 2024 |
| Retinitis pigmentosa-deafness syndrome | 1 | Dec 12, 2023 |
| Retinoblastoma | 2 | Dec 24, 2024 |
| Rett syndrome | 20 | Aug 1, 2025 |
| Rett syndrome, congenital variant | 8 | Dec 7, 2023 |
| Rhabdoid tumor predisposition syndrome 2 | 1 | Oct 19, 2023 |
| Rheumatoid arthritis | 3 | Dec 24, 2024 |
| Rhizomelic chondrodysplasia punctata type 1 | 1 | Jan 20, 2025 |
| Rhizomelic limb shortening with dysmorphic features | 1 | May 2, 2025 |
| Rienhoff syndrome | 1 | Jan 27, 2025 |
| Right atrial isomerism | 1 | Aug 1, 2025 |
| Ritscher-Schinzel syndrome 2 | 1 | Dec 9, 2023 |
| Ritscher-Schinzel syndrome 4 | 1 | Jan 20, 2025 |
| Roberts-SC phocomelia syndrome | 1 | Oct 19, 2023 |
| Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 1 | Oct 4, 2024 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Oct 19, 2023 |
| Rothmund-Thomson syndrome type 2 | 1 | Nov 24, 2023 |
| Rotor syndrome | 2 | Dec 16, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 12 | Aug 1, 2025 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Jan 20, 2025 |
| SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 | 2 | Jan 27, 2025 |
| SRD5A3-congenital disorder of glycosylation | 2 | Oct 4, 2024 |
| SSR4-congenital disorder of glycosylation | 1 | May 2, 2024 |
| STING-associated vasculopathy with onset in infancy | 1 | Jun 13, 2024 |
| STT3A-congenital disorder of glycosylation | 1 | Aug 1, 2025 |
| Saldino-Mainzer syndrome | 3 | Jun 13, 2024 |
| Salla disease | 1 | Jan 27, 2025 |
| Sandhoff disease | 10 | Aug 1, 2025 |
| Scapuloperoneal spinal muscular atrophy | 1 | Feb 2, 2022 |
| Schaaf-Yang syndrome | 3 | Aug 1, 2025 |
| Schinzel-Giedion syndrome | 3 | Jun 7, 2024 |
| Schneckenbecken dysplasia | 1 | May 2, 2024 |
| Schuurs-Hoeijmakers syndrome | 1 | Jun 20, 2024 |
| Schwartz-Jampel syndrome type 1 | 5 | May 2, 2025 |
| Seckel syndrome 1 | 1 | Jun 20, 2024 |
| Seckel syndrome 4 | 1 | Oct 19, 2023 |
| Seckel syndrome 5 | 1 | Nov 23, 2023 |
| Seckel syndrome 6 | 1 | May 2, 2025 |
| Seizure | 1 | Jan 27, 2023 |
| Seizures, benign familial infantile, 2 | 4 | Aug 1, 2025 |
| Seizures, benign familial infantile, 3 | 2 | Jan 27, 2025 |
| Seizures, benign familial neonatal, 2 | 2 | Aug 1, 2025 |
| Senior-Loken syndrome 1 | 2 | Aug 1, 2025 |
| Senior-Loken syndrome 5 | 3 | Jan 27, 2025 |
| Senior-Loken syndrome 7 | 1 | Jan 9, 2023 |
| Senior-Loken syndrome 9 | 1 | May 2, 2024 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Jun 7, 2024 |
| Septo-optic dysplasia sequence | 1 | Oct 27, 2023 |
| Severe X-linked myotubular myopathy | 1 | Oct 19, 2023 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Oct 27, 2023 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 3 | Dec 16, 2024 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 1 | May 2, 2025 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 5 | Jul 28, 2025 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 3 | Sep 5, 2024 |
| Severe early-childhood-onset retinal dystrophy | 9 | Aug 1, 2025 |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 3 | Jan 20, 2025 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 4 | Aug 1, 2025 |
| Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 1 | Jan 31, 2025 |
| Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | 1 | May 2, 2025 |
| Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | 3 | Oct 4, 2024 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Jan 27, 2025 |
| Severe myoclonic epilepsy in infancy | 31 | Jan 27, 2025 |
| Shashi-Pena syndrome | 1 | Jun 7, 2024 |
| Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 1 | Feb 2, 2022 |
| Short stature due to partial GHR deficiency | 1 | Aug 1, 2025 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 | 4 | Aug 1, 2025 |
| Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | 1 | Jun 13, 2024 |
| Short stature, microcephaly, and endocrine dysfunction | 1 | Dec 16, 2024 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Jan 9, 2023 |
| Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | 6 | Jan 27, 2025 |
| Short stature-optic atrophy-Pelger-Huët anomaly syndrome | 5 | Jan 20, 2025 |
| Short-limb skeletal dysplasia with severe combined immunodeficiency | 1 | Feb 2, 2022 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 2 | Nov 3, 2023 |
| Short-rib thoracic dysplasia 14 with polydactyly | 1 | Oct 19, 2023 |
| Short-rib thoracic dysplasia 6 with or without polydactyly | 4 | Aug 1, 2025 |
| Shprintzen-Goldberg syndrome | 1 | Jan 27, 2025 |
| Shukla-Vernon syndrome | 3 | Dec 24, 2024 |
| Shwachman-Diamond syndrome 1 | 4 | Dec 24, 2024 |
| Sialic acid storage disease, severe infantile type | 3 | Oct 4, 2024 |
| Sialidosis type 2 | 1 | Sep 5, 2024 |
| Sick sinus syndrome 2, autosomal dominant | 1 | Oct 4, 2024 |
| Sideroblastic anemia 2 | 1 | Jan 20, 2025 |
| Sifrim-Hitz-Weiss syndrome | 1 | Dec 16, 2024 |
| Simpson-Golabi-Behmel syndrome type 1 | 2 | Jun 20, 2024 |
| Sinoatrial node dysfunction and deafness | 1 | Oct 19, 2023 |
| Sitosterolemia 1 | 4 | Aug 1, 2025 |
| Sitosterolemia 2 | 2 | Aug 1, 2025 |
| Sjögren-Larsson syndrome | 3 | Jan 27, 2025 |
| Smith-Magenis syndrome | 1 | Feb 11, 2025 |
| Sneddon syndrome | 1 | Nov 24, 2023 |
| Snijders Blok-Campeau syndrome | 3 | Jan 20, 2025 |
| Snijders blok-fisher syndrome | 2 | Jan 20, 2025 |
| Sotos syndrome | 14 | Jan 20, 2025 |
| Spastic ataxia 2 | 1 | Oct 19, 2023 |
| Spastic ataxia 3 | 1 | Dec 16, 2024 |
| Spastic ataxia 5 | 3 | May 2, 2025 |
| Spastic paraplegia 84, autosomal recessive | 1 | May 2, 2025 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 3 | Nov 16, 2024 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome | 3 | Jan 27, 2025 |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 2 | Oct 19, 2023 |
| Specific granule deficiency 2 | 1 | Dec 24, 2024 |
| Specific language impairment 5 | 1 | Aug 1, 2025 |
| Spermatogenic failure 20 | 1 | Feb 2, 2022 |
| Spermatogenic failure 23 | 2 | Jan 27, 2025 |
| Spermatogenic failure 25 | 2 | May 2, 2024 |
| Spermatogenic failure 32 | 1 | May 2, 2024 |
| Spermatogenic failure 34 | 1 | Feb 2, 2022 |
| Spermatogenic failure 80 | 1 | Jan 27, 2025 |
| Sphingolipid activator protein 1 deficiency | 2 | Apr 24, 2025 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Nov 3, 2023 |
| Spinal muscular atrophy with congenital bone fractures 2 | 2 | Nov 16, 2024 |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 | May 2, 2025 |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 2 | Oct 27, 2023 |
| Spinocerebellar ataxia 27A | 1 | Nov 3, 2023 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 5 | Nov 16, 2024 |
| Spinocerebellar ataxia 45 | 1 | Nov 16, 2024 |
| Spinocerebellar ataxia 46 | 1 | Aug 1, 2025 |
| Spinocerebellar ataxia 47 | 1 | Jan 20, 2025 |
| Spinocerebellar ataxia 48 | 1 | May 2, 2024 |
| Spinocerebellar ataxia 49 | 1 | Jun 7, 2024 |
| Spinocerebellar ataxia type 11 | 1 | Oct 19, 2023 |
| Spinocerebellar ataxia type 13 | 3 | Aug 1, 2025 |
| Spinocerebellar ataxia type 15/16 | 3 | Jan 20, 2025 |
| Spinocerebellar ataxia type 19/22 | 2 | May 2, 2024 |
| Spinocerebellar ataxia type 26 | 1 | Oct 27, 2023 |
| Spinocerebellar ataxia type 29 | 2 | Jan 27, 2025 |
| Spinocerebellar ataxia type 34 | 1 | Dec 16, 2024 |
| Spinocerebellar ataxia type 35 | 3 | Jan 27, 2025 |
| Spinocerebellar ataxia type 40 | 3 | Sep 5, 2024 |
| Spinocerebellar ataxia type 41 | 1 | Jun 7, 2024 |
| Spinocerebellar ataxia type 42 | 6 | Aug 1, 2025 |
| Spinocerebellar ataxia type 5 | 5 | Jan 20, 2025 |
| Spinocerebellar ataxia type 6 | 1 | May 2, 2024 |
| Spinocerebellar ataxia, autosomal recessive 32 | 1 | Jul 11, 2025 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 8 | Oct 4, 2024 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 1 | Oct 19, 2023 |
| Sponastrime dysplasia | 3 | Jan 31, 2025 |
| Spondylocarpotarsal synostosis syndrome | 1 | Oct 19, 2023 |
| Spondylocostal dysostosis 1, autosomal recessive | 2 | Jul 28, 2025 |
| Spondylocostal dysostosis 5 | 3 | Nov 16, 2024 |
| Spondyloenchondrodysplasia with immune dysregulation | 4 | Nov 16, 2024 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 | Jun 20, 2024 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | 3 | Jan 20, 2025 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 1 | Jan 27, 2025 |
| Spondyloepimetaphyseal dysplasia, Missouri type | 2 | May 2, 2025 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 4 | Oct 4, 2024 |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 1 | Oct 27, 2023 |
| Spondyloepiphyseal dysplasia congenita | 1 | Oct 19, 2023 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations | 3 | Oct 4, 2024 |
| Spondyloepiphyseal dysplasia, Stanescu type | 2 | Nov 16, 2024 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | 1 | Oct 19, 2023 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 1 | May 2, 2025 |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 | Oct 27, 2023 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 1 | Jan 20, 2025 |
| Spongy degeneration of central nervous system | 4 | Nov 16, 2024 |
| Stankiewicz-Isidor syndrome | 1 | Oct 19, 2023 |
| Steel syndrome | 2 | May 2, 2025 |
| Stickler syndrome type 1 | 4 | Aug 1, 2025 |
| Stickler syndrome type 2 | 2 | Oct 4, 2024 |
| Stickler syndrome, type 4 | 2 | Dec 12, 2023 |
| Stickler syndrome, type I, nonsyndromic ocular | 3 | Aug 1, 2025 |
| Striatal degeneration, autosomal dominant 2 | 1 | Feb 2, 2022 |
| Striatonigral degeneration, childhood-onset | 2 | Dec 12, 2023 |
| Stromme syndrome | 8 | Jun 20, 2024 |
| Structural brain anomalies with impaired intellectual development and craniosynostosis | 2 | Dec 16, 2024 |
| Structural heart defects and renal anomalies syndrome | 1 | Dec 12, 2023 |
| Succinate-semialdehyde dehydrogenase deficiency | 5 | Jan 20, 2025 |
| Succinyl-CoA acetoacetate transferase deficiency | 3 | Jan 27, 2025 |
| Sucrase-isomaltase deficiency | 3 | Aug 1, 2025 |
| Sudden cardiac failure, infantile | 1 | Dec 7, 2023 |
| Sudden infant death-dysgenesis of the testes syndrome | 1 | Feb 2, 2022 |
| Sulfite oxidase deficiency | 3 | Jan 20, 2025 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 7 | Jul 28, 2025 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 3 | May 2, 2025 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 | Feb 2, 2022 |
| Supranuclear palsy, progressive, 1 | 1 | Aug 1, 2025 |
| Supravalvar aortic stenosis | 1 | Jun 7, 2024 |
| Surfactant metabolism dysfunction, pulmonary, 1 | 1 | Oct 30, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Oct 19, 2023 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Oct 19, 2023 |
| Syndromic X-linked intellectual disability 94 | 2 | Sep 5, 2024 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 8 | May 2, 2025 |
| Syndromic X-linked intellectual disability Hedera type | 1 | Nov 24, 2023 |
| Syndromic X-linked intellectual disability Lubs type | 2 | Nov 16, 2024 |
| Syndromic X-linked intellectual disability Najm type | 4 | Jul 11, 2025 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Oct 19, 2023 |
| Syndromic X-linked intellectual disability Shashi type | 1 | Aug 1, 2025 |
| Synpolydactyly type 2 | 1 | Oct 19, 2023 |
| Systemic lupus erythematosus | 2 | Jan 27, 2025 |
| Systemic lupus erythematosus, susceptibility to, 1 | 1 | Apr 24, 2025 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 2 | Dec 31, 2024 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 1 | Sep 5, 2024 |
| T-substance anomaly | 1 | Nov 24, 2023 |
| TELO2-related intellectual disability-neurodevelopmental disorder | 4 | Aug 1, 2025 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2 | Jul 28, 2025 |
| Tall stature-intellectual disability-renal anomalies syndrome | 1 | Feb 11, 2025 |
| Tay-Sachs disease | 11 | Feb 11, 2025 |
| Teebi hypertelorism syndrome 2 | 2 | Nov 16, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 4 | Jan 31, 2025 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Dec 16, 2024 |
| Temple-Baraitser syndrome | 1 | Feb 2, 2022 |
| Temtamy syndrome | 2 | Oct 27, 2023 |
| Testosterone 17-beta-dehydrogenase deficiency | 2 | Jan 27, 2025 |
| Thanatophoric dysplasia type 1 | 2 | Dec 16, 2024 |
| Thanatophoric dysplasia, type 2 | 1 | Oct 27, 2023 |
| Thrombocythemia 1 | 1 | Dec 7, 2023 |
| Thrombocythemia 2 | 1 | Oct 19, 2023 |
| Thrombocythemia 3 | 5 | Jun 7, 2024 |
| Thrombocytopenia 12 with or without myopathy | 1 | Aug 1, 2025 |
| Thrombocytopenia 2 | 2 | Jun 7, 2024 |
| Thrombocytopenia 5 | 1 | Nov 16, 2024 |
| Thrombocytopenia 6 | 1 | Oct 19, 2023 |
| Thrombophilia due to activated protein C resistance | 3 | Nov 16, 2024 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 2 | Nov 24, 2023 |
| Thrombophilia due to protein C deficiency, autosomal recessive | 1 | Aug 1, 2025 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 1 | Jan 20, 2025 |
| Thrombophilia due to thrombin defect | 3 | Nov 16, 2024 |
| Thrombophilia, X-linked, due to factor 8 defect | 1 | Jan 27, 2025 |
| Thyroid dyshormonogenesis 1 | 1 | Jan 27, 2025 |
| Thyroid dyshormonogenesis 6 | 9 | Jun 20, 2024 |
| Thyroid hormone resistance, generalized, autosomal dominant | 1 | Feb 2, 2022 |
| Thyrotoxic periodic paralysis, susceptibility to, 1 | 1 | Oct 19, 2023 |
| Tibial muscular dystrophy | 1 | Oct 19, 2023 |
| Timothy syndrome | 2 | Aug 1, 2025 |
| Tolchin-Le Caignec syndrome | 4 | Jul 28, 2025 |
| Torsion dystonia 2 | 1 | Jan 20, 2025 |
| Torsion dystonia 6 | 2 | Feb 11, 2025 |
| Townes-Brocks syndrome 1 | 4 | Jan 20, 2025 |
| Townes-Brocks syndrome 2 | 1 | Jun 7, 2024 |
| Transcobalamin II deficiency | 2 | May 2, 2025 |
| Transient bullous dermolysis of the newborn | 1 | Dec 16, 2024 |
| Transient infantile hypertriglyceridemia and hepatosteatosis | 3 | Dec 16, 2024 |
| Treacher Collins syndrome 1 | 2 | May 2, 2024 |
| Tremor, hereditary essential, 4 | 1 | Oct 19, 2023 |
| Tremor, hereditary essential, 5 | 4 | May 2, 2025 |
| Trichohepatoenteric syndrome 1 | 3 | Jun 13, 2024 |
| Trichohepatoneurodevelopmental syndrome | 1 | Oct 19, 2023 |
| Trichorhinophalangeal dysplasia type I | 3 | Nov 16, 2024 |
| Trichothiodystrophy 4, nonphotosensitive | 1 | Jun 7, 2024 |
| Triglyceride storage disease with ichthyosis | 1 | Jun 20, 2024 |
| Triosephosphate isomerase deficiency | 1 | Feb 11, 2025 |
| Troyer syndrome | 1 | Jan 9, 2023 |
| Tuberous sclerosis 1 | 9 | Aug 1, 2025 |
| Tuberous sclerosis 2 | 18 | Aug 1, 2025 |
| Tumoral calcinosis, hyperphosphatemic, familial, 1 | 1 | Nov 24, 2023 |
| Type 2 diabetes mellitus | 5 | Jan 20, 2025 |
| Type II complement component 8 deficiency | 1 | Nov 16, 2024 |
| Tyrosinase-positive oculocutaneous albinism | 7 | Aug 1, 2025 |
| Tyrosinemia type I | 9 | Dec 16, 2024 |
| Tyrosinemia type II | 1 | Jun 7, 2024 |
| Ullrich congenital muscular dystrophy 1A | 21 | Aug 1, 2025 |
| Ullrich congenital muscular dystrophy 2 | 1 | Nov 24, 2023 |
| Ulnar-mammary syndrome | 1 | Oct 27, 2023 |
| Unverricht-Lundborg syndrome | 1 | Nov 24, 2023 |
| Upshaw-Schulman syndrome | 3 | May 2, 2024 |
| Usher syndrome type 1 | 5 | Jan 20, 2025 |
| Usher syndrome type 2A | 8 | Jan 27, 2025 |
| Usher syndrome type 2C | 3 | Oct 19, 2023 |
| Usher syndrome type 3B | 1 | Feb 11, 2025 |
| Usmani-Riazuddin syndrome, autosomal dominant | 2 | May 2, 2025 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | Jun 7, 2024 |
| Van Maldergem syndrome 1 | 5 | Jul 11, 2025 |
| Van Maldergem syndrome 2 | 1 | Oct 19, 2023 |
| Van der Woude syndrome 2 | 1 | Jan 27, 2025 |
| Vanishing white matter disease | 2 | Jan 9, 2023 |
| Variegate porphyria | 1 | Jan 27, 2025 |
| Vasculitis due to ADA2 deficiency | 8 | Jan 27, 2025 |
| Ventricular fibrillation, paroxysmal familial, 2 | 1 | Jan 27, 2025 |
| Ventriculomegaly-cystic kidney disease | 1 | Feb 2, 2022 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Oct 19, 2023 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Dec 12, 2023 |
| Vici syndrome | 4 | Dec 16, 2024 |
| Vissers-Bodmer syndrome | 4 | Jan 20, 2025 |
| Vitamin D hydroxylation-deficient rickets, type 1B | 1 | Dec 7, 2023 |
| Vitamin D-dependent rickets type II with alopecia | 3 | Aug 1, 2025 |
| Vitamin D-dependent rickets, type 1A | 5 | Jan 31, 2025 |
| Vitamin D-dependent rickets, type 3 | 1 | Dec 16, 2024 |
| Von Hippel-Lindau syndrome | 1 | Aug 1, 2025 |
| Waardenburg syndrome type 1 | 2 | Nov 24, 2023 |
| Waardenburg syndrome type 2E | 1 | Jan 9, 2023 |
| Waardenburg syndrome type 4A | 1 | Oct 19, 2023 |
| Waardenburg syndrome type 4C | 2 | Oct 19, 2023 |
| Wagner disease | 2 | Jan 27, 2025 |
| Warburg micro syndrome 1 | 3 | Nov 16, 2024 |
| Warburg micro syndrome 2 | 3 | Jan 27, 2025 |
| Warsaw breakage syndrome | 2 | Jun 20, 2024 |
| Weaver syndrome | 1 | Dec 16, 2024 |
| Weill-Marchesani syndrome 1 | 3 | Dec 16, 2024 |
| Weill-Marchesani syndrome 2, dominant | 1 | May 2, 2024 |
| Weiss-Kruszka syndrome | 5 | Jan 20, 2025 |
| Werner syndrome | 2 | May 2, 2025 |
| White-Kernohan syndrome | 1 | Feb 11, 2025 |
| Wieacker-Wolff syndrome | 1 | Dec 16, 2024 |
| Wieacker-Wolff syndrome, female-restricted | 3 | Dec 7, 2023 |
| Wiedemann-Steiner syndrome | 5 | Aug 1, 2025 |
| Wilson disease | 57 | Aug 1, 2025 |
| Wiskott-Aldrich syndrome | 6 | Aug 1, 2025 |
| Wolcott-Rallison dysplasia | 2 | Dec 16, 2024 |
| Wolfram syndrome 1 | 3 | Dec 9, 2023 |
| Wooly hair, autosomal recessive 3 | 1 | Apr 24, 2025 |
| X-linked Alport syndrome | 18 | Aug 1, 2025 |
| X-linked agammaglobulinemia | 5 | Jun 7, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Oct 19, 2023 |
| X-linked chondrodysplasia punctata 1 | 1 | Feb 11, 2025 |
| X-linked complicated corpus callosum dysgenesis | 2 | Sep 5, 2024 |
| X-linked congenital hemolytic anemia | 2 | Dec 24, 2024 |
| X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | 1 | Dec 7, 2023 |
| X-linked erythropoietic protoporphyria | 2 | Sep 5, 2024 |
| X-linked hydrocephalus syndrome | 2 | Aug 1, 2025 |
| X-linked intellectual disability Cabezas type | 3 | May 2, 2025 |
| X-linked intellectual disability with marfanoid habitus | 4 | Jan 27, 2025 |
| X-linked intellectual disability, Cantagrel type | 8 | Jan 27, 2025 |
| X-linked intellectual disability, Stocco dos Santos type | 1 | Jun 7, 2024 |
| X-linked intellectual disability, van Esch type | 1 | Sep 5, 2024 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 4 | Jan 20, 2025 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 3 | Jun 7, 2024 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Dec 16, 2024 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 3 | Jan 20, 2025 |
| X-linked myopathy with excessive autophagy | 1 | Oct 19, 2023 |
| X-linked reticulate pigmentary disorder | 1 | Nov 24, 2023 |
| X-linked severe combined immunodeficiency | 2 | Nov 16, 2024 |
| X-linked sideroblastic anemia 1 | 1 | Jun 7, 2024 |
| Xanthinuria type II | 4 | Aug 1, 2025 |
| Xeroderma pigmentosum group A | 1 | May 2, 2025 |
| Xeroderma pigmentosum group B | 2 | Jun 20, 2024 |
| Xeroderma pigmentosum, group C | 2 | Sep 5, 2024 |
| Xeroderma pigmentosum, group E | 1 | Oct 19, 2023 |
| Xeroderma pigmentosum, group F | 1 | Dec 16, 2024 |
| Xeroderma pigmentosum, group G | 4 | Dec 16, 2024 |
| Yoon-Bellen neurodevelopmental syndrome | 1 | May 2, 2025 |
| Yunis-Varon syndrome | 3 | May 2, 2025 |
| ZTTK syndrome | 8 | Jan 27, 2025 |
| Zaki syndrome | 2 | May 2, 2025 |
| Zimmermann-Laband syndrome 1 | 2 | Jan 9, 2023 |
| Zimmermann-Laband syndrome 2 | 2 | Aug 1, 2025 |
| alpha Thalassemia | 2 | Apr 24, 2025 |
| beta Thalassemia | 3 | Feb 2, 2022 |
| von Willebrand disease type 1 | 4 | Feb 11, 2025 |
| von Willebrand disease type 2 | 7 | Aug 1, 2025 |
| von Willebrand disease type 3 | 3 | Oct 4, 2024 |
