| 11p partial monosomy syndrome | 2 | Sep 25, 2025 |
| 17p11.2 microduplication syndrome | 1 | Sep 25, 2025 |
| 3-Methylglutaconic aciduria | 1 | Dec 29, 2023 |
| 3-Methylglutaconic aciduria type 3 | 2 | Sep 25, 2025 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Dec 29, 2023 |
| 3-methylglutaconic aciduria, type VIIB | 1 | Apr 26, 2021 |
| 3M syndrome 1 | 1 | Sep 28, 2023 |
| ABCA4-related disorder | 1 | Sep 25, 2025 |
| ALDH18A1-related de Barsy syndrome | 1 | Dec 29, 2023 |
| ALG12-congenital disorder of glycosylation | 1 | Dec 29, 2023 |
| ANO5-related disorder | 3 | Sep 28, 2023 |
| APC-Associated Polyposis Disorders | 5 | Dec 29, 2023 |
| APC-related attenuated familial adenomatous polyposis | 1 | Dec 29, 2023 |
| ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | 1 | Dec 29, 2023 |
| Abortive cerebellar ataxia | 1 | Sep 25, 2025 |
| Achondrogenesis type II | 1 | Apr 26, 2021 |
| Achondrogenesis, type IB | 1 | Sep 25, 2025 |
| Achondroplasia | 1 | Dec 29, 2023 |
| Achromatopsia | 1 | Apr 26, 2021 |
| Achromatopsia 3 | 1 | Apr 26, 2021 |
| Acrocallosal syndrome | 1 | Dec 29, 2023 |
| Acrodysostosis 1 with or without hormone resistance | 1 | Sep 25, 2025 |
| Acrodysostosis 2 with or without hormone resistance | 1 | Sep 25, 2025 |
| Acromesomelic dysplasia 1, Maroteaux type | 2 | Sep 25, 2025 |
| Acromicric dysplasia | 2 | Sep 25, 2025 |
| Actin accumulation myopathy | 1 | Dec 29, 2023 |
| Acute intermittent porphyria | 2 | Apr 26, 2021 |
| Acute lymphoid leukemia | 1 | Dec 29, 2023 |
| Acute myeloid leukemia | 4 | Sep 25, 2025 |
| Adams-Oliver syndrome | 1 | Sep 25, 2025 |
| Adams-Oliver syndrome 2 | 1 | Apr 26, 2021 |
| Adams-Oliver syndrome 5 | 6 | Sep 25, 2025 |
| Adenomatous polyp of colon | 1 | Dec 29, 2023 |
| Adenylosuccinate lyase deficiency | 1 | Dec 29, 2023 |
| Adrenoleukodystrophy | 5 | Sep 25, 2025 |
| Agammaglobulinemia 2, autosomal recessive | 1 | Apr 26, 2021 |
| Age related macular degeneration 1 | 3 | Sep 25, 2025 |
| Age related macular degeneration 2 | 3 | Sep 25, 2025 |
| Age-related macular degeneration | 2 | Apr 26, 2021 |
| Aicardi-Goutieres syndrome 2 | 1 | Sep 25, 2025 |
| Aicardi-Goutieres syndrome 3 | 1 | Apr 26, 2021 |
| Aicardi-Goutieres syndrome 5 | 3 | Sep 25, 2025 |
| Aicardi-Goutieres syndrome 6 | 1 | Sep 25, 2025 |
| Aicardi-Goutieres syndrome 7 | 3 | Apr 26, 2021 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Sep 25, 2025 |
| Alpha-1-antitrypsin deficiency | 1 | Apr 26, 2021 |
| Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 | Apr 26, 2021 |
| Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 | Apr 26, 2021 |
| Alpha-N-acetylgalactosaminidase deficiency type 3 | 1 | Apr 26, 2021 |
| Alstrom syndrome | 6 | Sep 25, 2025 |
| Alternating hemiplegia of childhood 1 | 2 | Sep 25, 2025 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Sep 25, 2025 |
| Alveolar capillary dysplasia without misalignment of pulmonary veins | 1 | Sep 25, 2025 |
| Amelia cleft lip palate hydrocephalus iris coloboma | 1 | Sep 25, 2025 |
| Amyloidosis, hereditary systemic 1 | 4 | Sep 25, 2025 |
| Amyotrophic lateral sclerosis | 1 | Sep 25, 2025 |
| Amyotrophic lateral sclerosis type 1 | 8 | Sep 25, 2025 |
| Amyotrophic lateral sclerosis type 23 | 1 | Sep 25, 2025 |
| Amyotrophic lateral sclerosis type 4 | 3 | Sep 25, 2025 |
| Amyotrophic lateral sclerosis type 5 | 12 | Sep 25, 2025 |
| Amyotrophic lateral sclerosis, susceptibility to, 25 | 1 | Sep 25, 2025 |
| Amyotrophic neuralgia | 1 | Sep 25, 2025 |
| Andersen Tawil syndrome | 1 | Apr 26, 2021 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Apr 26, 2021 |
| Aneurysm-osteoarthritis syndrome | 1 | Sep 25, 2025 |
| Angelman syndrome | 3 | Sep 25, 2025 |
| Angelman syndrome-like | 1 | Dec 29, 2023 |
| Anophthalmia-microphthalmia syndrome | 1 | Dec 29, 2023 |
| Anterior segment dysgenesis | 1 | Sep 25, 2025 |
| Anterior segment dysgenesis 3 | 1 | Sep 25, 2025 |
| Aortic aneurysm, familial thoracic 10 | 1 | Sep 25, 2025 |
| Aortic aneurysm, familial thoracic 11, susceptibility to | 1 | Sep 25, 2025 |
| Aortic aneurysm, familial thoracic 4 | 1 | Sep 25, 2025 |
| Aortic aneurysm, familial thoracic 6 | 2 | Dec 29, 2023 |
| Aortic aneurysm, familial thoracic 7 | 1 | Dec 29, 2023 |
| Aortic valve disease 1 | 1 | Dec 29, 2023 |
| Aortic valve disease 2 | 1 | Apr 26, 2021 |
| Aortic valve disorder | 7 | Sep 25, 2025 |
| Aplastic anemia | 1 | Dec 29, 2023 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 3 | Sep 25, 2025 |
| Arrhythmogenic right ventricular cardiomyopathy | 2 | Sep 25, 2025 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Sep 25, 2025 |
| Arrhythmogenic right ventricular dysplasia 2 | 5 | Sep 25, 2025 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Dec 29, 2023 |
| Arthrogryposis multiplex congenita 3, myogenic type | 4 | Sep 25, 2025 |
| Asphyxiating thoracic dystrophy 1 | 2 | Dec 29, 2023 |
| Asphyxiating thoracic dystrophy 2 | 2 | Sep 25, 2025 |
| Asphyxiating thoracic dystrophy 4 | 2 | Sep 25, 2025 |
| Asphyxiating thoracic dystrophy 5 | 1 | Sep 25, 2025 |
| Ataxia - oculomotor apraxia type 4 | 1 | Sep 23, 2025 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 2 | Apr 26, 2021 |
| Ataxia-pancytopenia syndrome | 2 | Sep 25, 2025 |
| Ataxia-telangiectasia syndrome | 55 | Sep 25, 2025 |
| Ataxia-telangiectasia-like disorder | 1 | Apr 26, 2021 |
| Atelosteogenesis type I | 2 | Sep 25, 2025 |
| Atelosteogenesis type II | 1 | Sep 25, 2025 |
| Atelosteogenesis type III | 2 | Sep 25, 2025 |
| Atrial conduction disease | 1 | Sep 25, 2025 |
| Atrial fibrillation, familial, 1 | 1 | Dec 29, 2023 |
| Atrial fibrillation, familial, 10 | 1 | Sep 25, 2025 |
| Atrial fibrillation, familial, 3 | 2 | Sep 25, 2025 |
| Atrial fibrillation, familial, 9 | 1 | Apr 26, 2021 |
| Atrial septal defect 2 | 1 | Sep 25, 2025 |
| Atrial septal defect 5 | 2 | Dec 29, 2023 |
| Atrioventricular septal defect 4 | 1 | Sep 25, 2025 |
| Attenuated familial adenomatous polyposis | 3 | Sep 25, 2025 |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 | Sep 25, 2025 |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 | Sep 25, 2025 |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 1 | Sep 25, 2025 |
| Autism spectrum disorder | 2 | Sep 25, 2025 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Dec 29, 2023 |
| Autoimmune interstitial lung disease-arthritis syndrome | 2 | Sep 25, 2025 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 1 | Apr 26, 2021 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 2 | Sep 25, 2025 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 1 | Sep 25, 2025 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | 1 | Sep 25, 2025 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2K | 1 | Dec 29, 2023 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2M | 1 | Apr 26, 2021 |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 | Apr 26, 2021 |
| Autosomal dominant Robinow syndrome 2 | 1 | Sep 25, 2025 |
| Autosomal dominant centronuclear myopathy | 4 | Sep 25, 2025 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2 | Sep 25, 2025 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Apr 26, 2021 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 4 | Dec 29, 2023 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Sep 25, 2025 |
| Autosomal dominant hypocalcemia 1 | 5 | Sep 25, 2025 |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Sep 25, 2025 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 2 | Sep 25, 2025 |
| Autosomal dominant neovascular inflammatory vitreoretinopathy | 2 | Sep 25, 2025 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | Apr 26, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Dec 29, 2023 |
| Autosomal dominant nonsyndromic hearing loss 10 | 1 | Sep 25, 2025 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Sep 25, 2025 |
| Autosomal dominant nonsyndromic hearing loss 6 | 3 | Sep 25, 2025 |
| Autosomal dominant optic atrophy classic form | 1 | Sep 25, 2025 |
| Autosomal dominant osteopetrosis 1 | 3 | Sep 25, 2025 |
| Autosomal dominant osteopetrosis 2 | 2 | Sep 25, 2025 |
| Autosomal dominant polycystic liver disease | 1 | Sep 25, 2025 |
| Autosomal dominant retinitis pigmentosa | 2 | Sep 25, 2025 |
| Autosomal dominant slowed nerve conduction velocity | 1 | Sep 25, 2025 |
| Autosomal dominant spastic paraplegia type 9 | 1 | Dec 29, 2023 |
| Autosomal recessive Alport syndrome | 1 | Apr 26, 2021 |
| Autosomal recessive DOPA responsive dystonia | 1 | Sep 25, 2025 |
| Autosomal recessive Robinow syndrome | 1 | Sep 25, 2025 |
| Autosomal recessive Stickler syndrome | 3 | Sep 25, 2025 |
| Autosomal recessive ataxia, Beauce type | 6 | Sep 25, 2025 |
| Autosomal recessive centronuclear myopathy | 2 | Sep 25, 2025 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 | Sep 25, 2025 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Dec 29, 2023 |
| Autosomal recessive cutis laxa type 2C | 1 | Sep 25, 2025 |
| Autosomal recessive cutis laxa type 2D | 1 | Sep 25, 2025 |
| Autosomal recessive distal spinal muscular atrophy 1 | 3 | Dec 29, 2023 |
| Autosomal recessive hypophosphatemic bone disease | 2 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Apr 26, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2G | 3 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 11 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 2 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 2 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 4 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 12 | Sep 25, 2025 |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Sep 25, 2025 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency | 1 | Sep 25, 2025 |
| Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 | Sep 25, 2025 |
| Autosomal recessive myogenic arthrogryposis multiplex congenita | 1 | Dec 29, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 3 | Sep 25, 2025 |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 | Sep 25, 2025 |
| Autosomal recessive nonsyndromic hearing loss 2 | 2 | Sep 25, 2025 |
| Autosomal recessive nonsyndromic hearing loss 23 | 1 | Sep 25, 2025 |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 | Apr 26, 2021 |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 | Sep 25, 2025 |
| Autosomal recessive nonsyndromic hearing loss 4 | 1 | Sep 25, 2025 |
| Autosomal recessive nonsyndromic hearing loss 84B | 1 | Sep 25, 2025 |
| Autosomal recessive nonsyndromic hearing loss 88 | 1 | Sep 25, 2025 |
| Autosomal recessive osteopetrosis | 1 | Sep 25, 2025 |
| Autosomal recessive osteopetrosis 1 | 1 | Sep 25, 2025 |
| Autosomal recessive osteopetrosis 2 | 2 | Dec 29, 2023 |
| Autosomal recessive osteopetrosis 4 | 1 | Sep 25, 2025 |
| Autosomal recessive retinitis pigmentosa | 4 | Sep 25, 2025 |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 1 | Sep 25, 2025 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 | Apr 26, 2021 |
| Autosomal recessive spastic paraplegia type 78 | 2 | Sep 25, 2025 |
| Autosomal recessive spinocerebellar ataxia 14 | 1 | Sep 25, 2025 |
| Autosomal recessive spinocerebellar ataxia 20 | 1 | Sep 25, 2025 |
| Avascular necrosis of femoral head, primary, 1 | 1 | Apr 26, 2021 |
| Axenfeld-Rieger syndrome type 3 | 1 | Sep 25, 2025 |
| BAP1-related tumor predisposition syndrome | 2 | Sep 25, 2025 |
| BENTA disease | 2 | Apr 26, 2021 |
| BRCA2-related disorder | 24 | Dec 29, 2023 |
| BRIP1-related disorder | 7 | Mar 10, 2026 |
| Baller-Gerold syndrome | 5 | Sep 25, 2025 |
| Bannayan-Riley-Ruvalcaba syndrome | 1 | Dec 29, 2023 |
| Bardet-Biedl syndrome | 3 | Sep 25, 2025 |
| Bardet-Biedl syndrome 1 | 1 | Sep 25, 2025 |
| Bardet-Biedl syndrome 10 | 1 | Sep 25, 2025 |
| Bardet-Biedl syndrome 11 | 2 | Sep 25, 2025 |
| Bardet-Biedl syndrome 14 | 1 | Sep 25, 2025 |
| Bardet-Biedl syndrome 15 | 1 | Sep 25, 2025 |
| Bartter disease type 3 | 1 | Dec 29, 2023 |
| Bartter syndrome with hypocalcemia | 4 | Sep 25, 2025 |
| Becker muscular dystrophy | 5 | Sep 25, 2025 |
| Beckwith-Wiedemann syndrome | 1 | Dec 29, 2023 |
| Bethlem myopathy 1A | 11 | Sep 25, 2025 |
| Bethlem myopathy 2 | 18 | Sep 25, 2025 |
| Biotinidase deficiency | 1 | Apr 26, 2021 |
| Birt-Hogg-Dube syndrome | 3 | Sep 25, 2025 |
| Blau syndrome | 3 | Apr 26, 2021 |
| Blepharocheilodontic syndrome 1 | 1 | Dec 29, 2023 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 5 | Sep 25, 2025 |
| Bloom syndrome | 6 | Sep 25, 2025 |
| Blue color blindness | 1 | Dec 29, 2023 |
| Bone osteosarcoma | 1 | Mar 20, 2026 |
| Boomerang dysplasia | 2 | Sep 25, 2025 |
| Bothnia retinal dystrophy | 1 | Sep 25, 2025 |
| Brachydactyly type B1 | 1 | Sep 25, 2025 |
| Brachyolmia-amelogenesis imperfecta syndrome | 2 | Sep 25, 2025 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | Sep 25, 2025 |
| Brain small vessel disease 3 | 1 | Sep 25, 2025 |
| Breast cancer, susceptibility to | 4 | Sep 25, 2025 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Dec 29, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | Apr 26, 2021 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 5 | Sep 28, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 4 | 5 | Sep 25, 2025 |
| Brittle cornea syndrome 1 | 5 | Sep 25, 2025 |
| Brittle cornea syndrome 2 | 1 | Sep 25, 2025 |
| Brody myopathy | 3 | Dec 29, 2023 |
| Brown-Vialetto-van Laere syndrome 1 | 2 | Dec 29, 2023 |
| Brown-Vialetto-van Laere syndrome 2 | 2 | Sep 25, 2025 |
| Brugada syndrome | 1 | Sep 25, 2025 |
| Brugada syndrome 1 | 2 | Apr 26, 2021 |
| Brugada syndrome 5 | 1 | Dec 29, 2023 |
| C3 glomerulonephritis | 1 | Sep 25, 2025 |
| CAPN3-related disorder | 2 | Apr 26, 2021 |
| CDH23-related disorder | 1 | Dec 29, 2023 |
| CEP290-related disorder | 1 | Dec 29, 2023 |
| CHARGE syndrome | 4 | Sep 25, 2025 |
| CHEK2-related cancer predisposition | 21 | Mar 20, 2026 |
| CODAS syndrome | 1 | Sep 25, 2025 |
| COG1 congenital disorder of glycosylation | 1 | Sep 25, 2025 |
| COG5-congenital disorder of glycosylation | 1 | Sep 25, 2025 |
| COL12A1-related disorder | 1 | Dec 29, 2023 |
| Café-au-lait macules with pulmonary stenosis | 13 | Sep 25, 2025 |
| Candidiasis, familial, 9 | 1 | Sep 25, 2025 |
| Cardiac arrhythmia, ankyrin-B-related | 1 | Sep 25, 2025 |
| Cardiac valvular dysplasia, X-linked | 1 | Apr 26, 2021 |
| Cardiofaciocutaneous syndrome 4 | 1 | Sep 25, 2025 |
| Cardiomyopathy | 1 | Sep 25, 2025 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2 | Dec 29, 2023 |
| Cardiomyopathy, familial restrictive, 1 | 2 | Sep 25, 2025 |
| Carney complex, type 1 | 1 | Sep 25, 2025 |
| Carney-Stratakis syndrome | 1 | Dec 29, 2023 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 1 | Sep 25, 2025 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 1 | Sep 25, 2025 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 | Sep 25, 2025 |
| Carnitine palmitoyltransferase II deficiency | 2 | Dec 29, 2023 |
| Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders | 1 | Sep 25, 2025 |
| Catecholaminergic polymorphic ventricular tachycardia | 1 | Apr 26, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 5 | Sep 25, 2025 |
| Cenani-Lenz syndactyly syndrome | 1 | Dec 29, 2023 |
| Central core disease, autosomal recessive | 1 | Dec 29, 2023 |
| Central core myopathy | 11 | Sep 25, 2025 |
| Centronuclear myopathy | 3 | Sep 25, 2025 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Dec 29, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 | Sep 25, 2025 |
| Cerebroretinal microangiopathy with calcifications and cysts 1 | 1 | Sep 25, 2025 |
| Cernunnos-XLF deficiency | 2 | Apr 26, 2021 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 9 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease | 1 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease axonal type 2C | 5 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease axonal type 2CC | 2 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease axonal type 2K | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease axonal type 2O | 5 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease axonal type 2P | 3 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease axonal type 2S | 3 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease axonal type 2V | 1 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease axonal type 2X | 16 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate B | 2 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate C | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate D | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate E | 2 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease dominant intermediate F | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease recessive intermediate A | 2 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease recessive intermediate C | 6 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 1B | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 1E | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 1F | 1 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 2 | 1 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 2B1 | 4 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 2B2 | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 2D | 1 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 2E | 1 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 2I | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 2J | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 2R | 1 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease type 4 | 1 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease type 4A | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 4B2 | 5 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 4C | 2 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease type 4D | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 4F | 3 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease type 4H | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 4J | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 1 | Sep 25, 2025 |
| Charcot-Marie-Tooth disease, type 2A | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease, type IA | 3 | Sep 25, 2025 |
| Childhood absence epilepsy | 1 | Sep 25, 2025 |
| Childhood myocerebrohepatopathy spectrum | 1 | Sep 25, 2025 |
| Cholestanol storage disease | 1 | Sep 25, 2025 |
| Cholestasis-pigmentary retinopathy-cleft palate syndrome | 2 | Sep 25, 2025 |
| Choroideremia | 1 | Sep 25, 2025 |
| Chromosome 1p36 deletion syndrome | 1 | Apr 26, 2021 |
| Chromosome 1q21.1 deletion syndrome | 1 | Sep 25, 2025 |
| Chromosome 2q37 deletion syndrome | 2 | Sep 25, 2025 |
| Chromosome 3q29 microduplication syndrome | 1 | Sep 25, 2025 |
| Chromosome 6pter-p24 deletion syndrome | 1 | Sep 25, 2025 |
| Chronic pancreatitis | 1 | Sep 25, 2025 |
| Chudley-McCullough syndrome | 1 | Apr 26, 2021 |
| Chuvash polycythemia | 4 | Sep 25, 2025 |
| Chédiak-Higashi syndrome | 5 | Sep 25, 2025 |
| Ciliary dyskinesia, primary, 37 | 5 | Sep 25, 2025 |
| Ciliopathy | 1 | Sep 25, 2025 |
| Classic homocystinuria | 2 | Sep 25, 2025 |
| Classic lissencephaly | 1 | Sep 25, 2025 |
| Cockayne syndrome | 1 | Apr 26, 2021 |
| Coffin-Lowry syndrome | 1 | Apr 26, 2021 |
| Coffin-Siris syndrome | 1 | Dec 29, 2023 |
| Coffin-Siris syndrome 1 | 1 | Dec 29, 2023 |
| Cohen syndrome | 4 | Sep 25, 2025 |
| Collagen 6-related myopathy | 6 | Sep 25, 2025 |
| Colorectal cancer | 2 | Dec 29, 2023 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 6 | Sep 25, 2025 |
| Colorectal cancer, susceptibility to, 10 | 6 | Sep 25, 2025 |
| Colorectal cancer, susceptibility to, 12 | 15 | Sep 25, 2025 |
| Combined immunodeficiency due to DOCK8 deficiency | 3 | Sep 25, 2025 |
| Combined immunodeficiency due to LRBA deficiency | 3 | Dec 29, 2023 |
| Combined immunodeficiency due to ORAI1 deficiency | 2 | Apr 26, 2021 |
| Combined immunodeficiency due to STIM1 deficiency | 3 | Sep 25, 2025 |
| Combined immunodeficiency due to ZAP70 deficiency | 1 | Apr 26, 2021 |
| Combined immunodeficiency with skin granulomas | 1 | Dec 29, 2023 |
| Combined oxidative phosphorylation defect type 17 | 1 | Sep 25, 2025 |
| Combined oxidative phosphorylation defect type 27 | 2 | Sep 25, 2025 |
| Complement component 2 deficiency | 2 | Sep 25, 2025 |
| Complement component 3 deficiency | 1 | Sep 25, 2025 |
| Complement component 6 deficiency | 1 | Sep 25, 2025 |
| Complement component 7 deficiency | 1 | Sep 25, 2025 |
| Complement component 9 deficiency | 1 | Sep 25, 2025 |
| Complement component C1s deficiency | 1 | Sep 25, 2025 |
| Complement factor b deficiency | 1 | Sep 25, 2025 |
| Complex lethal osteochondrodysplasia | 1 | Sep 25, 2025 |
| Compton-North congenital myopathy | 3 | Sep 28, 2023 |
| Cone dystrophy 4 | 1 | Apr 26, 2021 |
| Cone-rod dystrophy 10 | 1 | Sep 25, 2025 |
| Cone-rod dystrophy 12 | 1 | Apr 26, 2021 |
| Cone-rod dystrophy 15 | 4 | Sep 25, 2025 |
| Cone-rod dystrophy 19 | 2 | Sep 25, 2025 |
| Cone-rod dystrophy 2 | 1 | Sep 25, 2025 |
| Cone-rod dystrophy 21 | 1 | Sep 25, 2025 |
| Cone-rod dystrophy 3 | 7 | Sep 25, 2025 |
| Cone-rod dystrophy 5 | 1 | Sep 25, 2025 |
| Cone-rod dystrophy 6 | 3 | Sep 25, 2025 |
| Cone-rod dystrophy and hearing loss 1 | 1 | Sep 25, 2025 |
| Cone-rod dystrophy and hearing loss 2 | 1 | Sep 25, 2025 |
| Congenital Muscular Dystrophy, LAMA2-related | 1 | Dec 29, 2023 |
| Congenital Stationary Night Blindness, Dominant | 1 | Dec 29, 2023 |
| Congenital anomalies of kidney and urinary tract 1 | 1 | Sep 25, 2025 |
| Congenital bilateral absence of vas deferens | 1 | Dec 29, 2023 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 4 | Sep 25, 2025 |
| Congenital bile acid synthesis defect 3 | 3 | Sep 25, 2025 |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | 1 | Sep 25, 2025 |
| Congenital contractural arachnodactyly | 2 | Sep 25, 2025 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Sep 25, 2025 |
| Congenital diarrhea 6 | 1 | Sep 25, 2025 |
| Congenital disorder of deglycosylation | 1 | Apr 26, 2021 |
| Congenital disorder of glycosylation | 1 | Sep 25, 2025 |
| Congenital disorder of glycosylation, type IIw | 1 | Sep 25, 2025 |
| Congenital heart disease | 2 | Sep 25, 2025 |
| Congenital hyperammonemia, type I | 2 | Sep 25, 2025 |
| Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 | Sep 25, 2025 |
| Congenital lactase deficiency | 1 | Dec 29, 2023 |
| Congenital multicore myopathy with external ophthalmoplegia | 4 | Sep 25, 2025 |
| Congenital muscular dystrophy due to LMNA mutation | 5 | Sep 25, 2025 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2 | Sep 25, 2025 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Apr 26, 2021 |
| Congenital myasthenic syndrome | 2 | Sep 25, 2025 |
| Congenital myasthenic syndrome 10 | 3 | Sep 25, 2025 |
| Congenital myasthenic syndrome 13 | 1 | Sep 25, 2025 |
| Congenital myasthenic syndrome 16 | 3 | Dec 29, 2023 |
| Congenital myasthenic syndrome 4A | 1 | Sep 25, 2025 |
| Congenital myasthenic syndrome 4B | 1 | Sep 25, 2025 |
| Congenital myasthenic syndrome 4C | 2 | Sep 25, 2025 |
| Congenital myasthenic syndrome 5 | 1 | Sep 25, 2025 |
| Congenital myasthenic syndrome 8 | 2 | Apr 26, 2021 |
| Congenital myasthenic syndrome 9 | 3 | Dec 29, 2023 |
| Congenital myopathy | 1 | Sep 25, 2025 |
| Congenital myopathy with fiber type disproportion | 10 | Sep 25, 2025 |
| Congenital myopathy with internal nuclei and atypical cores | 3 | Sep 25, 2025 |
| Congenital myotonia, autosomal dominant form | 10 | Sep 25, 2025 |
| Congenital myotonia, autosomal recessive form | 9 | Sep 25, 2025 |
| Congenital nystagmus | 1 | Sep 25, 2025 |
| Congenital primary aphakia | 1 | Sep 25, 2025 |
| Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | 1 | Sep 25, 2025 |
| Congenital secretory sodium diarrhea 8 | 1 | Sep 25, 2025 |
| Congenital sodium diarrhea | 2 | Sep 25, 2025 |
| Congenital stationary night blindness | 2 | Sep 25, 2025 |
| Congenital stationary night blindness 1E | 3 | Sep 25, 2025 |
| Congenital stationary night blindness autosomal dominant 1 | 2 | Apr 26, 2021 |
| Congenital thrombocytopenia | 1 | Sep 25, 2025 |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 | Dec 29, 2023 |
| Cornelia de Lange syndrome 1 | 1 | Dec 29, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | Apr 26, 2021 |
| Costello syndrome | 1 | Apr 26, 2021 |
| Cowden syndrome | 1 | Dec 29, 2023 |
| Cranioectodermal dysplasia 1 | 1 | Sep 25, 2025 |
| Craniosynostosis 7 | 1 | Apr 26, 2021 |
| Crohn disease | 1 | Apr 26, 2021 |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 | Dec 29, 2023 |
| Cryopyrin associated periodic syndrome | 2 | Sep 25, 2025 |
| Currarino triad | 2 | Sep 25, 2025 |
| Cutis laxa with osteodystrophy | 1 | Sep 25, 2025 |
| Cutis laxa, X-linked | 1 | Dec 29, 2023 |
| Cutis laxa, autosomal dominant | 1 | Sep 25, 2025 |
| Cutis laxa, autosomal dominant 3 | 1 | Dec 29, 2023 |
| Cystic fibrosis | 5 | Sep 25, 2025 |
| D-2-hydroxyglutaric aciduria 1 | 1 | Dec 29, 2023 |
| D-Glyceric aciduria | 1 | Sep 25, 2025 |
| DICER1-related tumor predisposition | 6 | Sep 25, 2025 |
| DLD-related disorder | 1 | Dec 29, 2023 |
| DNA Ligase I Deficiency | 2 | Sep 25, 2025 |
| DNA ligase IV deficiency | 1 | Apr 26, 2021 |
| DOCK2 deficiency | 3 | Sep 28, 2023 |
| DPAGT1-congenital disorder of glycosylation | 1 | Sep 25, 2025 |
| DYSF-related disorder | 1 | Sep 6, 2023 |
| Deafness | 1 | Sep 25, 2025 |
| Deafness, X-linked 5 | 1 | Sep 25, 2025 |
| Deafness-lymphedema-leukemia syndrome | 4 | Sep 25, 2025 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Apr 26, 2021 |
| Deficiency of alpha-mannosidase | 2 | Sep 25, 2025 |
| Deficiency of butyryl-CoA dehydrogenase | 1 | Sep 25, 2025 |
| Deficiency of butyrylcholinesterase | 1 | Sep 25, 2025 |
| Deficiency of isobutyryl-CoA dehydrogenase | 1 | Sep 25, 2025 |
| Deficiency of the interleukin-36 receptor antagonist | 1 | Sep 28, 2023 |
| Desmin-related myofibrillar myopathy | 3 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy 93 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy 94 | 2 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 1 | 9 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 14 | 2 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 18 | 3 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 19 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 2 | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 29 | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 30 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 33 | 1 | Apr 26, 2021 |
| Developmental and epileptic encephalopathy, 34 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 36 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 4 | 1 | Apr 26, 2021 |
| Developmental and epileptic encephalopathy, 42 | 3 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 46 | 2 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 5 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 50 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 52 | 1 | Sep 25, 2025 |
| Developmental and epileptic encephalopathy, 64 | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 77 | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 9 | 2 | Sep 25, 2025 |
| Developmental delay | 1 | Sep 25, 2025 |
| DiGeorge syndrome | 2 | Sep 25, 2025 |
| Diastrophic dysplasia | 1 | Sep 25, 2025 |
| Dilated cardiomyopathy 1A | 3 | Sep 25, 2025 |
| Dilated cardiomyopathy 1BB | 1 | Sep 25, 2025 |
| Dilated cardiomyopathy 1C | 1 | Dec 29, 2023 |
| Dilated cardiomyopathy 1E | 2 | Sep 25, 2025 |
| Dilated cardiomyopathy 1GG | 1 | Dec 29, 2023 |
| Dilated cardiomyopathy 1I | 2 | Sep 25, 2025 |
| Dilated cardiomyopathy 1J | 1 | Sep 25, 2025 |
| Dilated cardiomyopathy 1JJ | 1 | Sep 25, 2025 |
| Dilated cardiomyopathy 1KK | 1 | Sep 25, 2025 |
| Dilated cardiomyopathy 1R | 2 | Dec 29, 2023 |
| Dilated cardiomyopathy 1S | 1 | Sep 25, 2025 |
| Dilated cardiomyopathy 3B | 5 | Sep 25, 2025 |
| Disorder of sexual differentiation | 1 | Sep 25, 2025 |
| Distal hereditary motor neuropathy type 2 | 1 | Sep 6, 2023 |
| Distal myopathy with anterior tibial onset | 4 | Sep 25, 2025 |
| Distal myopathy with posterior leg and anterior hand involvement | 5 | Sep 25, 2025 |
| Donnai-Barrow syndrome | 5 | Sep 25, 2025 |
| Doyne honeycomb retinal dystrophy | 1 | Sep 25, 2025 |
| Drash syndrome | 2 | Sep 25, 2025 |
| Duchenne muscular dystrophy | 5 | Sep 25, 2025 |
| Dyskeratosis congenita, autosomal dominant 2 | 2 | Sep 25, 2025 |
| Dyskeratosis congenita, autosomal dominant 6 | 2 | Sep 25, 2025 |
| Dyskeratosis congenita, autosomal recessive 1 | 1 | Dec 29, 2023 |
| Dyskeratosis congenita, autosomal recessive 6 | 1 | Apr 26, 2021 |
| Dystonia 27 | 2 | Apr 26, 2021 |
| EGFR-related lung cancer | 5 | Sep 25, 2025 |
| Early Infantile Epileptic Encephalopathy, Autosomal Dominant | 2 | Sep 25, 2025 |
| Early-onset Parkinson disease 20 | 1 | Sep 25, 2025 |
| Ectopia lentis 1, isolated, autosomal dominant | 7 | Sep 25, 2025 |
| Ectopia lentis 2, isolated, autosomal recessive | 1 | Sep 25, 2025 |
| Ectopia lentis et pupillae | 1 | Apr 26, 2021 |
| Ehlers-Danlos syndrome | 1 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, arthrochalasia type | 8 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 4 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, cardiac valvular type | 6 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, classic type | 3 | Dec 29, 2023 |
| Ehlers-Danlos syndrome, classic type, 1 | 12 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, classic type, 2 | 5 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, classic-like, 2 | 1 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 7 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 5 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, musculocontractural type | 1 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 4 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 3 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 1 | Sep 25, 2025 |
| Ehlers-Danlos syndrome, type 4 | 9 | Sep 25, 2025 |
| Ellis-van Creveld syndrome | 1 | Sep 25, 2025 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 4 | Sep 25, 2025 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 4 | Sep 25, 2025 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 3 | Sep 25, 2025 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 8 | Sep 25, 2025 |
| Encephalopathy due to GLUT1 deficiency | 1 | Sep 25, 2025 |
| Endometrial carcinoma | 1 | Dec 29, 2023 |
| Enhanced S-cone syndrome | 1 | Sep 25, 2025 |
| Epidermodysplasia verruciformis | 1 | Sep 25, 2025 |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 1 | Dec 29, 2023 |
| Epidermolysis bullosa dystrophica | 3 | Sep 25, 2025 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 12 | Sep 25, 2025 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 12 | Sep 25, 2025 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 11 | Sep 25, 2025 |
| Epidermolysis bullosa simplex, Ogna type | 8 | Sep 25, 2025 |
| Epidermolytic ichthyosis | 1 | Sep 25, 2025 |
| Epilepsy, childhood absence 4 | 1 | Sep 25, 2025 |
| Epilepsy, familial adult myoclonic, 1 | 1 | Sep 25, 2025 |
| Epilepsy, familial adult myoclonic, 5 | 1 | Sep 25, 2025 |
| Epilepsy, familial temporal lobe, 1 | 1 | Sep 25, 2025 |
| Epilepsy, focal, SCN3A related | 1 | Sep 25, 2025 |
| Epilepsy, progressive myoclonic, 1B | 2 | Sep 25, 2025 |
| Epiphyseal dysplasia, multiple, 3 | 4 | Sep 25, 2025 |
| Episodic ataxia type 1 | 1 | Sep 25, 2025 |
| Episodic ataxia type 2 | 3 | Sep 25, 2025 |
| Episodic pain syndrome, familial, 2 | 2 | Apr 26, 2021 |
| Epithelial recurrent erosion dystrophy | 1 | Sep 28, 2023 |
| Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency | 1 | Sep 25, 2025 |
| Exudative vitreoretinopathy 4 | 3 | Sep 25, 2025 |
| Exudative vitreoretinopathy 6 | 2 | Sep 25, 2025 |
| FG syndrome | 4 | Sep 25, 2025 |
| FG syndrome 1 | 1 | Apr 26, 2021 |
| FLNA-related disorder | 1 | Dec 29, 2023 |
| FLNB-Related Spectrum Disorders | 2 | Sep 25, 2025 |
| Fabry disease | 2 | Dec 29, 2023 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 24 | Sep 25, 2025 |
| Factor I deficiency | 1 | Sep 25, 2025 |
| Familial Mediterranean fever | 2 | Sep 28, 2023 |
| Familial Mediterranean fever, autosomal dominant | 2 | Sep 28, 2023 |
| Familial adenomatous polyposis 1 | 7 | Sep 25, 2025 |
| Familial adenomatous polyposis 2 | 12 | Sep 25, 2025 |
| Familial adenomatous polyposis 3 | 8 | Dec 29, 2023 |
| Familial adenomatous polyposis 4 | 8 | Sep 25, 2025 |
| Familial cancer of breast | 62 | Sep 25, 2025 |
| Familial cold autoinflammatory syndrome 3 | 2 | Sep 25, 2025 |
| Familial colorectal cancer | 16 | Dec 29, 2023 |
| Familial dysautonomia | 2 | Sep 25, 2025 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 9 | Sep 25, 2025 |
| Familial exudative vitreoretinopathy | 1 | Dec 29, 2023 |
| Familial hemophagocytic lymphohistiocytosis | 1 | Apr 26, 2021 |
| Familial hypercholesterolemia | 2 | Sep 25, 2025 |
| Familial hyperinsulinism | 1 | Sep 25, 2025 |
| Familial hypobetalipoproteinemia 1 | 1 | Sep 25, 2025 |
| Familial hypocalciuric hypercalcemia | 4 | Sep 25, 2025 |
| Familial hypocalciuric hypercalcemia 1 | 1 | Dec 29, 2023 |
| Familial hypoparathyroidism | 1 | Dec 29, 2023 |
| Familial infantile myasthenia | 2 | Sep 25, 2025 |
| Familial melanoma | 1 | Apr 26, 2021 |
| Familial ovarian cancer | 2 | Dec 29, 2023 |
| Familial partial lipodystrophy, Dunnigan type | 4 | Sep 25, 2025 |
| Familial prostate cancer | 1 | Mar 20, 2026 |
| Familial temporal lobe epilepsy 7 | 1 | Apr 26, 2021 |
| Familial thoracic aortic aneurysm and aortic dissection | 14 | Sep 25, 2025 |
| Fanconi anemia complementation group A | 4 | Sep 25, 2025 |
| Fanconi anemia complementation group C | 4 | Sep 25, 2025 |
| Fanconi anemia complementation group D1 | 26 | Sep 25, 2025 |
| Fanconi anemia complementation group D2 | 2 | Sep 25, 2025 |
| Fanconi anemia complementation group G | 1 | Dec 29, 2023 |
| Fanconi anemia complementation group I | 4 | Sep 25, 2025 |
| Fanconi anemia complementation group J | 6 | Sep 25, 2025 |
| Fanconi anemia complementation group L | 1 | Sep 23, 2025 |
| Fanconi anemia complementation group N | 10 | Sep 25, 2025 |
| Fanconi anemia complementation group O | 3 | Sep 28, 2023 |
| Fanconi anemia complementation group P | 3 | Sep 25, 2025 |
| Fanconi anemia complementation group Q | 1 | Apr 26, 2021 |
| Febrile seizures, familial, 1 | 3 | Sep 25, 2025 |
| Fetal akinesia deformation sequence | 1 | Sep 25, 2025 |
| Fetal akinesia deformation sequence 1 | 3 | Dec 29, 2023 |
| Fetal akinesia deformation sequence 3 | 3 | Sep 25, 2025 |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 2 | Sep 25, 2025 |
| Fibrochondrogenesis | 3 | Sep 25, 2025 |
| Fibrochondrogenesis 1 | 2 | Sep 25, 2025 |
| Fibrous dysplasia of jaw | 2 | Sep 25, 2025 |
| Focal dermal hypoplasia | 1 | Dec 29, 2023 |
| Focal segmental glomerulosclerosis 5 | 2 | Sep 25, 2025 |
| Frasier syndrome | 2 | Sep 25, 2025 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 1 | Sep 25, 2025 |
| Fumarase deficiency | 3 | Sep 25, 2025 |
| GARS-Associated Axonal Neuropathy | 2 | Sep 25, 2025 |
| GNE myopathy | 4 | Sep 25, 2025 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Apr 26, 2021 |
| Gallstones | 1 | Sep 25, 2025 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Apr 26, 2021 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 2 | Sep 25, 2025 |
| Gastrointestinal defect and immunodeficiency syndrome | 1 | Dec 29, 2023 |
| Gastrointestinal stromal tumor | 5 | Sep 25, 2025 |
| Geleophysic dysplasia 2 | 3 | Sep 25, 2025 |
| Geleophysic dysplasia 3 | 2 | Sep 25, 2025 |
| Generalized epilepsy with febrile seizures plus | 9 | Sep 25, 2025 |
| Generalized epilepsy with febrile seizures plus, type 1 | 2 | Sep 25, 2025 |
| Generalized epilepsy with febrile seizures plus, type 2 | 3 | Sep 25, 2025 |
| Generalized epilepsy with febrile seizures plus, type 7 | 1 | Dec 29, 2023 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 2 | Dec 29, 2023 |
| Generalized juvenile polyposis/juvenile polyposis coli | 3 | Sep 25, 2025 |
| Generalized pustular psoriasis | 1 | Sep 25, 2025 |
| Geroderma osteodysplastica | 1 | Sep 25, 2025 |
| Ghosal hematodiaphyseal dysplasia | 1 | Sep 25, 2025 |
| Giant axonal neuropathy 1 | 1 | Sep 28, 2023 |
| Glaucoma 3, primary congenital, D | 3 | Sep 25, 2025 |
| Glioma susceptibility 1 | 1 | Dec 29, 2023 |
| Glomerulopathy with fibronectin deposits 1 | 1 | Sep 25, 2025 |
| Glomerulopathy with fibronectin deposits 2 | 1 | Sep 25, 2025 |
| Glucose-6-phosphate transport defect | 1 | Sep 25, 2025 |
| Glutaric aciduria, type 1 | 1 | Dec 29, 2023 |
| Glycine encephalopathy | 2 | Sep 25, 2025 |
| Glycogen storage disease IXb | 1 | Sep 25, 2025 |
| Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 1 | Sep 25, 2025 |
| Glycogen storage disease, type II | 7 | Sep 25, 2025 |
| Glycogen storage disease, type V | 1 | Sep 25, 2025 |
| Glycogen storage disease, type VI | 1 | Dec 29, 2023 |
| Gnathodiaphyseal dysplasia | 2 | Sep 25, 2025 |
| Gnb5-related intellectual disability-cardiac arrhythmia syndrome | 2 | Sep 25, 2025 |
| Gorlin syndrome | 5 | Sep 25, 2025 |
| Granulomatous disease, chronic, X-linked | 1 | Apr 26, 2021 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1 | Apr 26, 2021 |
| Griscelli syndrome type 1 | 1 | Sep 25, 2025 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 | Dec 29, 2023 |
| H syndrome | 1 | Sep 25, 2025 |
| Haim-Munk syndrome | 1 | Sep 25, 2025 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Dec 29, 2023 |
| Hearing loss, autosomal dominant 37 | 4 | Sep 25, 2025 |
| Hearing loss, autosomal recessive 57 | 2 | Sep 25, 2025 |
| Heimler syndrome 1 | 1 | Dec 29, 2023 |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | 1 | Sep 25, 2025 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 3 | Sep 25, 2025 |
| Hepatic methionine adenosyltransferase deficiency | 1 | Sep 25, 2025 |
| Hepatic veno-occlusive disease-immunodeficiency syndrome | 1 | Sep 25, 2025 |
| Hereditary angioedema type 1 | 1 | Sep 25, 2025 |
| Hereditary breast ovarian cancer syndrome | 41 | Sep 25, 2025 |
| Hereditary cancer-predisposing syndrome | 14 | Sep 25, 2025 |
| Hereditary diffuse gastric adenocarcinoma | 13 | Dec 29, 2023 |
| Hereditary hemochromatosis | 2 | Apr 26, 2021 |
| Hereditary hemorrhagic telangiectasia | 4 | Sep 25, 2025 |
| Hereditary hyperekplexia | 1 | Dec 29, 2023 |
| Hereditary insensitivity to pain with anhidrosis | 3 | Sep 25, 2025 |
| Hereditary leiomyomatosis and renal cell cancer | 4 | Sep 25, 2025 |
| Hereditary liability to pressure palsies | 4 | Sep 25, 2025 |
| Hereditary motor and sensory neuropathy with optic atrophy | 1 | Sep 28, 2023 |
| Hereditary nonpolyposis colon cancer | 5 | Mar 10, 2026 |
| Hereditary nonpolyposis colorectal neoplasms | 1 | Sep 25, 2025 |
| Hereditary pancreatitis | 4 | Dec 29, 2023 |
| Hereditary pheochromocytoma and paraganglioma | 3 | Dec 29, 2023 |
| Hereditary sensory and autonomic neuropathy type 6 | 12 | Sep 25, 2025 |
| Hereditary sensory and autonomic neuropathy type 7 | 9 | Sep 25, 2025 |
| Hereditary sensory and autonomic neuropathy with spastic paraplegia | 1 | Sep 25, 2025 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 2 | Sep 25, 2025 |
| Hereditary spastic paraplegia 10 | 1 | Sep 25, 2025 |
| Hereditary spastic paraplegia 11 | 16 | Sep 25, 2025 |
| Hereditary spastic paraplegia 15 | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 2 | 1 | Sep 25, 2025 |
| Hereditary spastic paraplegia 23 | 1 | Sep 25, 2025 |
| Hereditary spastic paraplegia 26 | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 30 | 1 | Sep 25, 2025 |
| Hereditary spastic paraplegia 39 | 2 | Apr 26, 2021 |
| Hereditary spastic paraplegia 3A | 3 | Sep 25, 2025 |
| Hereditary spastic paraplegia 4 | 3 | Sep 25, 2025 |
| Hereditary spastic paraplegia 44 | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 5A | 3 | Sep 25, 2025 |
| Hereditary spastic paraplegia 64 | 2 | Sep 25, 2025 |
| Hereditary spastic paraplegia 7 | 3 | Dec 29, 2023 |
| Hereditary spastic paraplegia 73 | 1 | Sep 25, 2025 |
| Hereditary spastic paraplegia 8 | 1 | Apr 26, 2021 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 3 | Sep 25, 2025 |
| Hermansky-Pudlak syndrome 1 | 1 | Sep 25, 2025 |
| Hermansky-Pudlak syndrome 2 | 1 | Apr 26, 2021 |
| Hermansky-Pudlak syndrome 9 | 1 | Apr 26, 2021 |
| Herpes simplex encephalitis, susceptibility to, 1 | 2 | Apr 26, 2021 |
| Herpes simplex encephalitis, susceptibility to, 4 | 1 | Sep 25, 2025 |
| Heterotaxy, visceral, 1, X-linked | 1 | Sep 25, 2025 |
| Heterotopia, periventricular, X-linked dominant | 1 | Apr 26, 2021 |
| High myopia | 2 | Sep 25, 2025 |
| High myopia-sensorineural deafness syndrome | 1 | Sep 28, 2023 |
| Hirschsprung disease, susceptibility to, 1 | 5 | Sep 25, 2025 |
| Histiocytic medullary reticulosis | 2 | Sep 25, 2025 |
| Holoprosencephaly 7 | 1 | Apr 26, 2021 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 | Sep 25, 2025 |
| Hurler syndrome | 1 | Sep 25, 2025 |
| Hutchinson-Gilford syndrome | 4 | Sep 25, 2025 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 4 | Sep 25, 2025 |
| Hydrolethalus syndrome | 1 | Dec 29, 2023 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 1 | Dec 29, 2023 |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 1 | Dec 29, 2023 |
| Hyper-IgM syndrome type 5 | 1 | Dec 29, 2023 |
| Hyperaldosteronism, familial, type IV | 1 | Dec 29, 2023 |
| Hypercalciuria | 1 | Sep 25, 2025 |
| Hyperkalemic periodic paralysis | 6 | Sep 25, 2025 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 1 | Dec 29, 2023 |
| Hypertrophic cardiomyopathy | 1 | Sep 25, 2025 |
| Hypertrophic cardiomyopathy 1 | 2 | Sep 25, 2025 |
| Hypertrophic cardiomyopathy 11 | 2 | Dec 29, 2023 |
| Hypertrophic cardiomyopathy 26 | 3 | Sep 25, 2025 |
| Hypertrophic cardiomyopathy 4 | 4 | Sep 25, 2025 |
| Hypochondroplasia | 1 | Dec 29, 2023 |
| Hypogonadotropic hypogonadism | 1 | Sep 28, 2023 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Dec 29, 2023 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 2 | Dec 29, 2023 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Sep 28, 2023 |
| Hypokalemic periodic paralysis, type 1 | 3 | Sep 25, 2025 |
| Hypokalemic periodic paralysis, type 2 | 6 | Sep 25, 2025 |
| Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | 2 | Sep 25, 2025 |
| Hypophosphatasia | 9 | Sep 25, 2025 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 2 | Sep 25, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Sep 25, 2025 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2 | Sep 25, 2025 |
| IL10-related early-onset inflammatory bowel disease | 1 | Sep 25, 2025 |
| IMAGe syndrome | 1 | Dec 29, 2023 |
| Idiopathic Pulmonary Fibrosis | 1 | Sep 25, 2025 |
| Idiopathic generalized epilepsy | 1 | Dec 29, 2023 |
| Imerslund-Grasbeck syndrome | 1 | Dec 29, 2023 |
| Immunodeficiency 104 | 5 | Sep 25, 2025 |
| Immunodeficiency 11b with atopic dermatitis | 2 | Apr 26, 2021 |
| Immunodeficiency 14 | 4 | Sep 25, 2025 |
| Immunodeficiency 14b, autosomal recessive | 1 | Sep 25, 2025 |
| Immunodeficiency 18 | 1 | Sep 25, 2025 |
| Immunodeficiency 23 | 2 | Sep 25, 2025 |
| Immunodeficiency 25 | 1 | Apr 26, 2021 |
| Immunodeficiency 31B | 1 | Dec 29, 2023 |
| Immunodeficiency 35 | 1 | Dec 29, 2023 |
| Immunodeficiency 51 | 1 | Sep 25, 2025 |
| Immunodeficiency 67 | 1 | Apr 26, 2021 |
| Immunodeficiency, common variable, 1 | 1 | Apr 26, 2021 |
| Immunodeficiency, common variable, 10 | 1 | Sep 25, 2025 |
| Immunodeficiency, common variable, 12 | 1 | Sep 25, 2025 |
| Immunodeficiency, common variable, 2 | 2 | Sep 25, 2025 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 1 | Sep 25, 2025 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Dec 29, 2023 |
| Inborn mitochondrial myopathy | 1 | Sep 25, 2025 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 1 | Apr 26, 2021 |
| Infantile cerebellar-retinal degeneration | 1 | Sep 25, 2025 |
| Infantile cortical hyperostosis | 4 | Sep 25, 2025 |
| Infantile epileptic dyskinetic encephalopathy | 1 | Apr 26, 2021 |
| Infantile liver failure syndrome 2 | 2 | Sep 25, 2025 |
| Infantile-onset X-linked spinal muscular atrophy | 1 | Sep 25, 2025 |
| Inflammatory bowel disease 1 | 1 | Apr 26, 2021 |
| Inflammatory bowel disease 28 | 2 | Sep 25, 2025 |
| Inflammatory skin and bowel disease, neonatal, 1 | 2 | Sep 25, 2025 |
| Inflammatory skin and bowel disease, neonatal, 2 | 1 | Sep 25, 2025 |
| Intellectual developmental disorder, autosomal recessive 74 | 1 | Sep 28, 2023 |
| Intellectual disability, X-linked 1 | 1 | Apr 26, 2021 |
| Intellectual disability, autosomal dominant 13 | 4 | Sep 25, 2025 |
| Intellectual disability, autosomal dominant 14 | 1 | Dec 29, 2023 |
| Intellectual disability, autosomal dominant 16 | 5 | Sep 25, 2025 |
| Intellectual disability, autosomal dominant 29 | 1 | Sep 25, 2025 |
| Intellectual disability, autosomal dominant 52 | 1 | Dec 29, 2023 |
| Intellectual disability, autosomal dominant 9 | 1 | Sep 25, 2025 |
| Intellectual disability, autosomal recessive 42 | 1 | Sep 25, 2025 |
| Intellectual disability, autosomal recessive 58 | 1 | Dec 29, 2023 |
| Intellectual disability, autosomal recessive 61 | 2 | Sep 25, 2025 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Dec 29, 2023 |
| Interstitial lung disease 2 | 1 | Apr 26, 2021 |
| Intervertebral disc disorder | 2 | Sep 25, 2025 |
| Isolated ectopia lentis | 1 | Apr 26, 2021 |
| Isolated microphthalmia 5 | 1 | Sep 25, 2025 |
| Jervell and Lange-Nielsen syndrome | 2 | Sep 25, 2025 |
| Joubert syndrome | 1 | Sep 25, 2025 |
| Joubert syndrome 16 | 1 | Sep 25, 2025 |
| Joubert syndrome 17 | 1 | Sep 25, 2025 |
| Joubert syndrome 23 | 1 | Sep 25, 2025 |
| Joubert syndrome 25 | 1 | Sep 28, 2023 |
| Joubert syndrome 32 | 1 | Dec 29, 2023 |
| Joubert syndrome 40 | 1 | Sep 25, 2025 |
| Joubert syndrome 5 | 1 | Sep 25, 2025 |
| Joubert syndrome 8 | 1 | Apr 26, 2021 |
| Joubert syndrome and related disorders | 5 | Sep 25, 2025 |
| Junctional epidermolysis bullosa with pyloric atresia | 1 | Apr 26, 2021 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Sep 28, 2023 |
| Juvenile amyotrophic lateral sclerosis | 5 | Dec 29, 2023 |
| Juvenile idiopathic arthritis | 1 | Sep 25, 2025 |
| Juvenile myoclonic epilepsy | 1 | Sep 25, 2025 |
| Juvenile polyposis syndrome | 4 | Sep 25, 2025 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 3 | Sep 25, 2025 |
| KCNJ10-related disorder | 1 | Sep 25, 2025 |
| KCNQ2-Related Disorders | 1 | Dec 29, 2023 |
| Kabuki syndrome 1 | 3 | Sep 25, 2025 |
| Kleefstra syndrome 2 | 1 | Apr 26, 2021 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 6 | Sep 25, 2025 |
| Kniest dysplasia | 1 | Apr 26, 2021 |
| Koolen-de Vries syndrome | 1 | Sep 25, 2025 |
| Kostmann syndrome | 1 | Sep 25, 2025 |
| Kufor-Rakeb syndrome | 2 | Sep 25, 2025 |
| L-2-hydroxyglutaric aciduria | 1 | Dec 29, 2023 |
| LAMA2-related muscular dystrophy | 4 | Sep 25, 2025 |
| LAMB2-related infantile-onset nephrotic syndrome | 2 | Sep 25, 2025 |
| LIG4-related disorder | 1 | Apr 26, 2021 |
| LZTR1-related schwannomatosis | 1 | Apr 26, 2021 |
| Landau-Kleffner syndrome | 1 | Dec 29, 2023 |
| Larsen syndrome | 3 | Sep 25, 2025 |
| Late-onset junctional epidermolysis bullosa | 1 | Sep 28, 2023 |
| Lateral meningocele syndrome | 1 | Sep 25, 2025 |
| Lathosterolosis | 1 | Sep 25, 2025 |
| Laurence-Moon syndrome | 2 | Apr 26, 2021 |
| Leber congenital amaurosis | 2 | Apr 26, 2021 |
| Leber congenital amaurosis 1 | 2 | Sep 25, 2025 |
| Leber congenital amaurosis 10 | 1 | Sep 25, 2025 |
| Leber congenital amaurosis 13 | 3 | Sep 25, 2025 |
| Leber congenital amaurosis 7 | 1 | Sep 25, 2025 |
| Leber congenital amaurosis 8 | 1 | Apr 26, 2021 |
| Left ventricular noncompaction | 1 | Sep 25, 2025 |
| Left ventricular noncompaction 1 | 6 | Sep 25, 2025 |
| Left ventricular noncompaction 4 | 1 | Apr 26, 2021 |
| Legg-Calve-Perthes disease | 1 | Apr 26, 2021 |
| Lenz-Majewski hyperostosis syndrome | 1 | Sep 25, 2025 |
| Lesch-Nyhan syndrome | 1 | Apr 26, 2021 |
| Lethal acantholytic epidermolysis bullosa | 1 | Sep 25, 2025 |
| Leukocyte adhesion deficiency 1 | 1 | Sep 25, 2025 |
| Leukocyte adhesion deficiency 3 | 1 | Apr 26, 2021 |
| Leukodystrophy, hypomyelinating, 2 | 1 | Apr 26, 2021 |
| Leukodystrophy, hypomyelinating, 3 | 1 | Dec 29, 2023 |
| Leukoencephalopathy with calcifications and cysts | 1 | Sep 25, 2025 |
| Li-Fraumeni syndrome | 1 | Dec 29, 2023 |
| Li-Fraumeni syndrome 1 | 4 | Sep 25, 2025 |
| Limb-girdle muscular dystrophy | 1 | Sep 25, 2025 |
| Limb-girdle muscular dystrophy due to POMK deficiency | 1 | Dec 29, 2023 |
| Linear nevus sebaceous syndrome | 1 | Apr 26, 2021 |
| Linear skin defects with multiple congenital anomalies 1 | 1 | Sep 28, 2023 |
| Lipoic acid synthetase deficiency | 2 | Apr 26, 2021 |
| Lipoyl transferase 1 deficiency | 1 | Dec 29, 2023 |
| Loeys-Dietz syndrome | 1 | Sep 25, 2025 |
| Loeys-Dietz syndrome 1 | 3 | Sep 25, 2025 |
| Loeys-Dietz syndrome 4 | 1 | Dec 29, 2023 |
| Long QT syndrome 1 | 2 | Sep 25, 2025 |
| Long QT syndrome 3 | 2 | Sep 25, 2025 |
| Long QT syndrome 4 | 2 | Sep 25, 2025 |
| Long QT syndrome 8 | 1 | Sep 25, 2025 |
| Lung cancer | 1 | Dec 29, 2023 |
| Lymphatic malformation 3 | 1 | Apr 26, 2021 |
| Lynch syndrome | 16 | Mar 10, 2026 |
| Lynch syndrome 1 | 5 | Sep 25, 2025 |
| Lynch syndrome 4 | 8 | Sep 25, 2025 |
| Lynch syndrome 5 | 15 | Sep 25, 2025 |
| Lysinuric protein intolerance | 2 | Sep 25, 2025 |
| MASS syndrome | 7 | Sep 25, 2025 |
| MED12-related intellectual disability syndrome | 2 | Sep 25, 2025 |
| MHC class I deficiency | 2 | Sep 25, 2025 |
| MHC class II deficiency | 4 | Sep 25, 2025 |
| MOGS-congenital disorder of glycosylation | 1 | Sep 25, 2025 |
| MYBPC3-related disorder | 2 | Apr 26, 2021 |
| MYH3-related disorder | 1 | Sep 28, 2023 |
| MYH7-related disorder | 1 | Dec 29, 2023 |
| MYH7-related skeletal myopathy | 1 | Sep 25, 2025 |
| MYO7A-related disorder | 1 | Sep 28, 2023 |
| MYPN-related myopathy | 1 | Sep 25, 2025 |
| Macular degeneration, early-onset | 2 | Sep 25, 2025 |
| Macular dystrophy with central cone involvement | 1 | Sep 25, 2025 |
| Malignant hyperthermia, susceptibility to, 1 | 11 | Sep 25, 2025 |
| Malignant hyperthermia, susceptibility to, 5 | 3 | Sep 25, 2025 |
| Malignant tumor of breast | 23 | Dec 29, 2023 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 14 | Sep 25, 2025 |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 | Apr 26, 2021 |
| Marfan syndrome | 8 | Sep 25, 2025 |
| Marshall syndrome | 5 | Sep 25, 2025 |
| Mastocytosis | 4 | Sep 25, 2025 |
| McCune-Albright syndrome | 1 | Sep 25, 2025 |
| Meconium ileus | 1 | Sep 25, 2025 |
| Megaconial type congenital muscular dystrophy | 1 | Sep 25, 2025 |
| Megacystis, microcolon, hypoperistalsis syndrome | 1 | Dec 29, 2023 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 1 | Sep 25, 2025 |
| Meier-Gorlin syndrome 1 | 1 | Sep 25, 2025 |
| Melanoma and neural system tumor syndrome | 4 | Sep 25, 2025 |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 2 | Dec 29, 2023 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 1 | Apr 26, 2021 |
| Melanoma-pancreatic cancer syndrome | 5 | Sep 25, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 3 | Sep 25, 2025 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 | Dec 29, 2023 |
| Menkes kinky-hair syndrome | 1 | Dec 29, 2023 |
| Metachromatic leukodystrophy | 2 | Sep 25, 2025 |
| Methylmalonate semialdehyde dehydrogenase deficiency | 2 | Sep 25, 2025 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 1 | Sep 25, 2025 |
| Methylmalonic aciduria, cblB type | 1 | Apr 26, 2021 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 1 | Sep 25, 2025 |
| Microcephaly 9, primary, autosomal recessive | 1 | Sep 28, 2023 |
| Microcephaly and chorioretinopathy 1 | 3 | Sep 25, 2025 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Dec 29, 2023 |
| Microcephaly, normal intelligence and immunodeficiency | 9 | Mar 10, 2026 |
| Microcephaly, seizures, and developmental delay | 1 | Sep 23, 2025 |
| Microcephaly-micromelia syndrome | 1 | Sep 25, 2025 |
| Microphthalmia, isolated, with coloboma 10 | 1 | Sep 25, 2025 |
| Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 3 | Sep 25, 2025 |
| Migraine, familial hemiplegic, 1 | 2 | Sep 25, 2025 |
| Migraine, familial hemiplegic, 2 | 2 | Sep 25, 2025 |
| Migraine, familial hemiplegic, 3 | 3 | Sep 25, 2025 |
| Mismatch repair cancer syndrome 1 | 27 | Sep 25, 2025 |
| Mismatch repair cancer syndrome 2 | 5 | Sep 25, 2025 |
| Mismatch repair cancer syndrome 3 | 3 | Sep 25, 2025 |
| Mismatch repair cancer syndrome 4 | 8 | Dec 29, 2023 |
| Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) | 1 | Sep 25, 2025 |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 | Sep 25, 2025 |
| Mitochondrial complex I deficiency | 2 | Sep 25, 2025 |
| Mitochondrial complex I deficiency, nuclear type 7 | 1 | Sep 25, 2025 |
| Mitochondrial complex II deficiency, nuclear type 1 | 7 | Dec 29, 2023 |
| Miyoshi muscular dystrophy 1 | 2 | Sep 25, 2025 |
| Miyoshi muscular dystrophy 3 | 2 | Sep 25, 2025 |
| Miyoshi myopathy | 2 | Apr 26, 2021 |
| Monocytopenia with susceptibility to infections | 4 | Sep 25, 2025 |
| Moyamoya disease 2 | 1 | Sep 25, 2025 |
| Mucopolysaccharidosis, MPS-I-H/S | 1 | Sep 25, 2025 |
| Mucopolysaccharidosis, MPS-I-S | 1 | Sep 25, 2025 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Apr 26, 2021 |
| Mucopolysaccharidosis, MPS-III-C | 1 | Sep 25, 2025 |
| Muenke syndrome | 1 | Dec 29, 2023 |
| Muir-Torré syndrome | 2 | Sep 28, 2023 |
| Multiminicore myopathy | 7 | Sep 25, 2025 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Sep 25, 2025 |
| Multiple endocrine neoplasia | 1 | Sep 28, 2023 |
| Multiple endocrine neoplasia type 2A | 4 | Dec 29, 2023 |
| Multiple endocrine neoplasia type 2B | 1 | Apr 26, 2021 |
| Multiple endocrine neoplasia, type 1 | 3 | Sep 25, 2025 |
| Multiple endocrine neoplasia, type 2 | 1 | Sep 25, 2025 |
| Multiple epiphyseal dysplasia type 1 | 1 | Sep 25, 2025 |
| Multiple epiphyseal dysplasia type 4 | 1 | Sep 25, 2025 |
| Multiple gastrointestinal atresias | 1 | Sep 28, 2023 |
| Multiple self-healing squamous epithelioma | 3 | Sep 25, 2025 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Dec 29, 2023 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 2 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 4 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 4 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 | Dec 29, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 | Dec 29, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 4 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 1 | Sep 25, 2025 |
| Muscular dystrophy-dystroglycanopathy type B5 | 2 | Sep 25, 2025 |
| Myasthenic syndrome, congenital, 22 | 1 | Sep 25, 2025 |
| Myhre syndrome | 3 | Sep 25, 2025 |
| Myoclonus, intractable, neonatal | 1 | Sep 25, 2025 |
| Myofibrillar myopathy 3 | 1 | Sep 25, 2025 |
| Myofibrillar myopathy 4 | 1 | Dec 29, 2023 |
| Myofibrillar myopathy 5 | 5 | Sep 25, 2025 |
| Myofibrillar myopathy 8 | 2 | Sep 25, 2025 |
| Myofibromatosis, infantile, 2 | 1 | Sep 25, 2025 |
| Myopathy due to calsequestrin and SERCA1 protein overload | 1 | Sep 25, 2025 |
| Myopathy, RYR1-associated | 5 | Sep 25, 2025 |
| Myopathy, centronuclear, 2 | 2 | Dec 29, 2023 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 10 | Sep 25, 2025 |
| Myopathy, proximal, and ophthalmoplegia | 2 | Sep 25, 2025 |
| Myopathy, tubular aggregate, 1 | 4 | Sep 25, 2025 |
| Myopathy, tubular aggregate, 2 | 1 | Apr 26, 2021 |
| Myopia 28, autosomal recessive | 1 | Sep 25, 2025 |
| Myosin storage myopathy | 1 | Sep 25, 2025 |
| NLRP12-related disorder | 1 | Apr 26, 2021 |
| NPHP4-related disorder | 1 | Sep 28, 2023 |
| NTHL1-related disorder | 1 | Apr 26, 2021 |
| Nebulin-related early-onset distal myopathy | 1 | Apr 26, 2021 |
| Nemaline myopathy | 1 | Sep 25, 2025 |
| Nemaline myopathy 10 | 1 | Sep 25, 2025 |
| Nemaline myopathy 2 | 12 | Sep 25, 2025 |
| Nemaline myopathy 6 | 1 | Sep 25, 2025 |
| Nemaline myopathy 8 | 1 | Dec 29, 2023 |
| Neonatal pseudo-hydrocephalic progeroid syndrome | 2 | Sep 25, 2025 |
| Neonatal severe primary hyperparathyroidism | 5 | Sep 25, 2025 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | Sep 25, 2025 |
| Neoplasm of stomach | 1 | Apr 26, 2021 |
| Nephronophthisis | 3 | Sep 25, 2025 |
| Nephronophthisis 12 | 1 | Sep 25, 2025 |
| Nephronophthisis 15 | 2 | Dec 29, 2023 |
| Nephronophthisis 4 | 1 | Apr 26, 2021 |
| Netherton syndrome | 2 | Sep 25, 2025 |
| Neu-Laxova syndrome 1 | 1 | Sep 25, 2025 |
| Neuroblastoma, susceptibility to, 3 | 3 | Sep 25, 2025 |
| Neurodegeneration with brain iron accumulation 6 | 1 | Apr 26, 2021 |
| Neurodevelopmental disorder | 2 | Sep 25, 2025 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 2 | Sep 25, 2025 |
| Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | 1 | Sep 25, 2025 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 1 | Sep 25, 2025 |
| Neurodevelopmental disorder, MTOR related | 2 | Dec 29, 2023 |
| Neurofibromatosis, type 1 | 16 | Sep 25, 2025 |
| Neurofibromatosis, type 2 | 1 | Apr 26, 2021 |
| Neurofibromatosis-Noonan syndrome | 14 | Sep 25, 2025 |
| Neuromuscular disease caused by qualitative or quantitative defects of dysferlin | 4 | Sep 25, 2025 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Dec 29, 2023 |
| Neuronal ceroid lipofuscinosis 10 | 1 | Sep 25, 2025 |
| Neuronal ceroid lipofuscinosis 2 | 2 | Sep 25, 2025 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Sep 25, 2025 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Sep 28, 2023 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 2 | Sep 25, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive | 1 | Sep 25, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 4 | Sep 25, 2025 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 | Apr 26, 2021 |
| Neuronopathy, distal hereditary motor, type 2D | 2 | Sep 25, 2025 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Sep 25, 2025 |
| Neuronopathy, distal hereditary motor, type 7B | 5 | Sep 25, 2025 |
| Neuropathy, congenital hypomyelinating, 2 | 1 | Sep 25, 2025 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 3 | Sep 25, 2025 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 12 | Sep 25, 2025 |
| Neuropathy, hereditary sensory and autonomic, type 2B | 1 | Sep 25, 2025 |
| Neuropathy, hereditary sensory, type 1D | 3 | Sep 25, 2025 |
| Neuropathy, hereditary sensory, type 2C | 1 | Sep 25, 2025 |
| Neutral lipid storage myopathy | 3 | Sep 25, 2025 |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 | Dec 29, 2023 |
| Newfoundland cone-rod dystrophy | 1 | Sep 25, 2025 |
| Night blindness, congenital stationary, type1i | 1 | Sep 25, 2025 |
| Nijmegen breakage syndrome-like disorder | 17 | Sep 25, 2025 |
| Noonan syndrome | 1 | Sep 25, 2025 |
| Noonan syndrome 10 | 1 | Apr 26, 2021 |
| Noonan syndrome 2 | 1 | Dec 29, 2023 |
| Norman-Roberts syndrome | 1 | Apr 26, 2021 |
| North Carolina macular dystrophy | 1 | Dec 29, 2023 |
| Obesity due to pro-opiomelanocortin deficiency | 1 | Sep 25, 2025 |
| Occipital pachygyria and polymicrogyria | 3 | Sep 25, 2025 |
| Ocular albinism | 1 | Sep 25, 2025 |
| Oculocutaneous albinism type 3 | 1 | Sep 25, 2025 |
| Oculocutaneous albinism type 6 | 1 | Sep 25, 2025 |
| Odonto-onycho-dermal dysplasia | 2 | Apr 26, 2021 |
| Oligodontia-cancer predisposition syndrome | 6 | Sep 25, 2025 |
| Oligosynaptic infertility | 1 | Apr 26, 2021 |
| Optic atrophy 3 | 3 | Sep 25, 2025 |
| Optic atrophy 9 | 1 | Sep 25, 2025 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Sep 25, 2025 |
| Orofaciodigital syndrome type 6 | 1 | Sep 25, 2025 |
| Osteogenesis Imperfecta, Recessive | 1 | Sep 25, 2025 |
| Osteogenesis imperfecta | 11 | Sep 25, 2025 |
| Osteogenesis imperfecta type 7 | 1 | Apr 26, 2021 |
| Osteogenesis imperfecta type 8 | 1 | Sep 25, 2025 |
| Osteoglophonic dysplasia | 1 | Dec 29, 2023 |
| Osteootohepatoenteric syndrome | 2 | Sep 25, 2025 |
| Osteoporosis with pseudoglioma | 3 | Sep 25, 2025 |
| Otofaciocervical syndrome 2 | 1 | Sep 25, 2025 |
| Otopalatodigital Spectrum Disorders | 1 | Apr 26, 2021 |
| Ovarian cancer, susceptibility to, 1 | 1 | Sep 25, 2025 |
| Ovarian neoplasm | 1 | Dec 29, 2023 |
| PALB2-related disorder | 6 | Dec 29, 2023 |
| PDE6B-related disorder | 1 | Apr 26, 2021 |
| PEHO-like syndrome | 2 | Sep 25, 2025 |
| PHARC syndrome | 1 | Sep 25, 2025 |
| PHGDH deficiency | 1 | Sep 25, 2025 |
| PMM2-congenital disorder of glycosylation | 3 | Sep 23, 2025 |
| PMP22-RAI1 contiguous gene duplication syndrome | 1 | Sep 25, 2025 |
| POLG-related disorder | 3 | Sep 25, 2025 |
| POMGNT1-related disorder | 1 | Apr 26, 2021 |
| PRKAG2 cardiac syndrome | 1 | Dec 29, 2023 |
| PRPH2-related disorder | 1 | Apr 26, 2021 |
| PTEN hamartoma tumor syndrome | 3 | Sep 25, 2025 |
| Pancreatic Cancer Susceptibility 4 | 1 | Sep 25, 2025 |
| Pancreatic cancer, susceptibility to | 1 | Sep 25, 2025 |
| Pancreatic cancer, susceptibility to, 3 | 3 | Sep 25, 2025 |
| Papillary renal cell carcinoma type 1 | 1 | Apr 26, 2021 |
| Papillon-Lefèvre syndrome | 1 | Sep 25, 2025 |
| Paragangliomas with sensorineural hearing loss | 1 | Dec 29, 2023 |
| Paramyotonia congenita of Von Eulenburg | 6 | Sep 25, 2025 |
| Paroxysmal extreme pain disorder | 11 | Sep 25, 2025 |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 | Apr 26, 2021 |
| Patterned macular dystrophy 2 | 4 | Sep 25, 2025 |
| Pelizaeus-Merzbacher disease | 1 | Sep 25, 2025 |
| Pendred syndrome | 1 | Sep 25, 2025 |
| Periodic paralysis | 1 | Sep 25, 2025 |
| Periodontitis, aggressive | 1 | Sep 25, 2025 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 4 | Sep 25, 2025 |
| Perlman syndrome | 2 | Dec 29, 2023 |
| Permanent neonatal diabetes mellitus | 1 | Sep 25, 2025 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 1 | Sep 25, 2025 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Dec 29, 2023 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 1 | Sep 28, 2023 |
| Peroxisome biogenesis disorder 5B | 1 | Sep 28, 2023 |
| Peroxisome biogenesis disorder 6B | 1 | Sep 25, 2025 |
| Perry syndrome | 6 | Sep 25, 2025 |
| Peutz-Jeghers syndrome | 5 | Dec 29, 2023 |
| Pheochromocytoma | 1 | Apr 26, 2021 |
| Pheochromocytoma/paraganglioma syndrome 1 | 1 | Sep 25, 2025 |
| Pheochromocytoma/paraganglioma syndrome 5 | 8 | Dec 29, 2023 |
| Phytanic acid storage disease | 2 | Sep 25, 2025 |
| Piebaldism | 3 | Sep 25, 2025 |
| Pierson syndrome | 2 | Sep 25, 2025 |
| Pigmentary retinal dystrophy | 1 | Sep 25, 2025 |
| Pituitary hormone deficiency, combined, 1 | 1 | Sep 25, 2025 |
| Pityriasis rubra pilaris | 1 | Apr 26, 2021 |
| Plasminogen deficiency, type I | 1 | Sep 25, 2025 |
| Platyspondylic dysplasia, Torrance type | 1 | Apr 26, 2021 |
| Pleuropulmonary blastoma | 1 | Dec 29, 2023 |
| Polycystic kidney disease 2 | 1 | Sep 25, 2025 |
| Polycystic liver disease 1 | 3 | Sep 25, 2025 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Apr 26, 2021 |
| Polyglucosan body myopathy type 2 | 1 | Sep 25, 2025 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 8 | Sep 25, 2025 |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 4 | Sep 25, 2025 |
| Pontocerebellar atrophy | 1 | Sep 25, 2025 |
| Pontocerebellar hypoplasia type 1A | 1 | Sep 25, 2025 |
| Pontocerebellar hypoplasia type 3 | 1 | Sep 25, 2025 |
| Pontocerebellar hypoplasia, type 1D | 1 | Sep 25, 2025 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Apr 26, 2021 |
| Potassium-aggravated myotonia | 6 | Sep 25, 2025 |
| Prelingual sensorineural hearing impairment | 1 | Apr 26, 2021 |
| Premature loss of teeth | 1 | Sep 25, 2025 |
| Primary ciliary dyskinesia | 3 | Sep 25, 2025 |
| Primary ciliary dyskinesia 10 | 1 | Dec 29, 2023 |
| Primary ciliary dyskinesia 26 | 1 | Sep 25, 2025 |
| Primary ciliary dyskinesia 3 | 1 | Sep 25, 2025 |
| Primary ciliary dyskinesia 7 | 3 | Dec 29, 2023 |
| Primary dilated cardiomyopathy | 22 | Sep 25, 2025 |
| Primary erythromelalgia | 11 | Sep 25, 2025 |
| Primary familial hypertrophic cardiomyopathy | 5 | Sep 25, 2025 |
| Primary hyperoxaluria, type II | 1 | Sep 25, 2025 |
| Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | 1 | Sep 25, 2025 |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 1 | Apr 26, 2021 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 2 | Sep 25, 2025 |
| Progressive bulbar palsy of childhood | 1 | Dec 29, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 3 | Sep 25, 2025 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 3 | Sep 25, 2025 |
| Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | Sep 25, 2025 |
| Progressive myoclonic epilepsy type 3 | 1 | Dec 29, 2023 |
| Progressive osseous heteroplasia | 1 | Sep 25, 2025 |
| Progressive retinal dystrophy due to retinol transport defect | 1 | Sep 25, 2025 |
| Progressive sclerosing poliodystrophy | 4 | Sep 25, 2025 |
| Prolidase deficiency | 1 | Sep 25, 2025 |
| Properdin deficiency, X-linked | 1 | Apr 26, 2021 |
| Propionic acidemia | 1 | Dec 29, 2023 |
| Prostate cancer | 3 | Dec 29, 2023 |
| Prostate cancer susceptibility | 1 | Sep 25, 2025 |
| Proximal myopathy with extrapyramidal signs | 1 | Sep 25, 2025 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 1 | Sep 25, 2025 |
| Pseudohypoaldosteronism type 2C | 2 | Sep 25, 2025 |
| Pseudohypoparathyroidism | 1 | Sep 25, 2025 |
| Pseudopseudohypoparathyroidism | 1 | Sep 25, 2025 |
| Pseudoxanthoma elasticum | 2 | Sep 25, 2025 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 | Sep 25, 2025 |
| Pulmonary alveolar proteinosis with hypogammaglobulinemia | 1 | Sep 25, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Sep 25, 2025 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Apr 26, 2021 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Sep 28, 2023 |
| Pyogenic bacterial infections due to MyD88 deficiency | 1 | Sep 25, 2025 |
| Pyridoxal phosphate-responsive seizures | 3 | Sep 25, 2025 |
| Pyruvate dehydrogenase E2 deficiency | 1 | Sep 25, 2025 |
| RCBTB1-related retinopathy | 1 | Sep 25, 2025 |
| RIDDLE syndrome | 1 | Sep 25, 2025 |
| RIN2 syndrome | 1 | Sep 25, 2025 |
| RYR1-related disorder | 5 | Dec 29, 2023 |
| Radial aplasia-thrombocytopenia syndrome | 1 | Sep 25, 2025 |
| Rapadilino syndrome | 5 | Sep 25, 2025 |
| Recessive dystrophic epidermolysis bullosa | 3 | Sep 25, 2025 |
| Renal carnitine transport defect | 4 | Sep 25, 2025 |
| Renal cell carcinoma | 2 | Apr 26, 2021 |
| Retinal arterial tortuosity | 1 | Sep 25, 2025 |
| Retinal cone dystrophy 4 | 1 | Apr 26, 2021 |
| Retinal dystrophy | 1 | Sep 23, 2025 |
| Retinal dystrophy with leukodystrophy | 3 | Sep 25, 2025 |
| Retinal macular dystrophy type 2 | 3 | Dec 29, 2023 |
| Retinitis pigmentosa | 11 | Sep 25, 2025 |
| Retinitis pigmentosa 1 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 11 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 12 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 13 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 18 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 19 | 7 | Sep 25, 2025 |
| Retinitis pigmentosa 2 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 25 | 2 | Sep 25, 2025 |
| Retinitis pigmentosa 31 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 32 | 2 | Sep 25, 2025 |
| Retinitis pigmentosa 33 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 35 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 37 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 38 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 39 | 7 | Sep 25, 2025 |
| Retinitis pigmentosa 4 | 2 | Apr 26, 2021 |
| Retinitis pigmentosa 41 | 3 | Dec 29, 2023 |
| Retinitis pigmentosa 43 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 45 | 2 | Sep 25, 2025 |
| Retinitis pigmentosa 66 | 3 | Sep 25, 2025 |
| Retinitis pigmentosa 71 | 2 | Sep 25, 2025 |
| Retinitis pigmentosa 72 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 73 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa 76 | 3 | Sep 25, 2025 |
| Retinitis pigmentosa 78 | 4 | Sep 25, 2025 |
| Retinitis pigmentosa 80 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 84 | 4 | Sep 25, 2025 |
| Retinitis pigmentosa 86 | 1 | Sep 25, 2025 |
| Retinitis pigmentosa with or without situs inversus | 1 | Sep 25, 2025 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 2 | Sep 25, 2025 |
| Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | 1 | Sep 25, 2025 |
| Rhabdoid tumor predisposition syndrome 2 | 4 | Sep 25, 2025 |
| Rienhoff syndrome | 1 | Apr 26, 2021 |
| Ritscher-Schinzel syndrome 1 | 1 | Apr 26, 2021 |
| Rothmund-Thomson syndrome | 2 | Sep 25, 2025 |
| Rothmund-Thomson syndrome type 2 | 2 | Dec 29, 2023 |
| Rubinstein-Taybi syndrome | 2 | Sep 25, 2025 |
| SCN5A-related disorder | 2 | Dec 29, 2023 |
| SH3TC2-related disorder | 1 | Dec 29, 2023 |
| SLC35A2-congenital disorder of glycosylation | 1 | Sep 25, 2025 |
| SPATA7-related disorder | 1 | Dec 29, 2023 |
| STAT3 gain of function | 1 | Dec 29, 2023 |
| SYNE1-related disorder | 1 | Apr 26, 2021 |
| Saldino-Mainzer syndrome | 2 | Sep 25, 2025 |
| Sarcotubular myopathy | 2 | Sep 25, 2025 |
| Scapuloperoneal spinal muscular atrophy | 2 | Sep 25, 2025 |
| Schaaf-Yang syndrome | 1 | Sep 25, 2025 |
| Schimke immuno-osseous dysplasia | 1 | Apr 26, 2021 |
| Schinzel-Giedion syndrome | 1 | Sep 25, 2025 |
| Schwannomatosis | 1 | Dec 29, 2023 |
| Schöpf-Schulz-Passarge syndrome | 2 | Apr 26, 2021 |
| Seckel syndrome | 1 | Sep 28, 2023 |
| Seckel syndrome 1 | 3 | Sep 25, 2025 |
| Seckel syndrome 5 | 1 | Sep 28, 2023 |
| Seizures, benign familial neonatal, 2 | 1 | Dec 29, 2023 |
| Sengers syndrome | 1 | Sep 25, 2025 |
| Senior-Loken syndrome 4 | 2 | Sep 25, 2025 |
| Senior-Loken syndrome 8 | 1 | Sep 25, 2025 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 3 | Sep 25, 2025 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Apr 26, 2021 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 2 | Sep 25, 2025 |
| Severe combined immunodeficiency due to CORO1A deficiency | 1 | Sep 25, 2025 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 2 | Dec 29, 2023 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 3 | Sep 25, 2025 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2 | Sep 25, 2025 |
| Severe early-childhood-onset retinal dystrophy | 6 | Sep 25, 2025 |
| Severe myoclonic epilepsy in infancy | 3 | Sep 25, 2025 |
| Shashi-Pena syndrome | 2 | Sep 25, 2025 |
| Short QT syndrome | 1 | Sep 25, 2025 |
| Short QT syndrome type 2 | 2 | Sep 25, 2025 |
| Short QT syndrome type 3 | 1 | Apr 26, 2021 |
| Short stature with nonspecific skeletal abnormalities | 2 | Sep 25, 2025 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 1 | Sep 25, 2025 |
| Short stature-optic atrophy-Pelger-Huët anomaly syndrome | 2 | Sep 25, 2025 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 2 | Sep 25, 2025 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 1 | Sep 25, 2025 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 1 | Dec 29, 2023 |
| Shprintzen-Goldberg syndrome | 1 | Sep 25, 2025 |
| Shwachman-Diamond syndrome 1 | 1 | Sep 25, 2025 |
| Shwachman-Diamond syndrome 2 | 1 | Sep 25, 2025 |
| Sialuria | 3 | Sep 25, 2025 |
| Sick sinus syndrome 1 | 1 | Sep 25, 2025 |
| Sick sinus syndrome 2, autosomal dominant | 2 | Sep 25, 2025 |
| Singleton-Merten syndrome 1 | 3 | Apr 26, 2021 |
| Singleton-Merten syndrome 2 | 2 | Sep 25, 2025 |
| Sinoatrial node dysfunction and deafness | 1 | Sep 25, 2025 |
| Skeletal dysplasia | 1 | Sep 25, 2025 |
| Small cell carcinoma of the ovary, hypercalcemic type | 3 | Sep 25, 2025 |
| Small fiber neuropathy | 1 | Sep 25, 2025 |
| Smith-Magenis syndrome | 2 | Sep 25, 2025 |
| Sneddon syndrome | 1 | Sep 25, 2025 |
| Somatotroph adenoma | 1 | Dec 29, 2023 |
| Spastic paraplegia, autosomal dominant | 1 | Sep 25, 2025 |
| Spermatogenic failure 18 | 4 | Sep 25, 2025 |
| Spermatogenic failure 46 | 2 | Sep 25, 2025 |
| Spinal muscular atrophy | 2 | Sep 25, 2025 |
| Spinal muscular atrophy with congenital bone fractures 1 | 1 | Sep 25, 2025 |
| Spinal muscular atrophy with lower extremity predominance | 1 | Sep 25, 2025 |
| Spinocerebellar ataxia type 34 | 1 | Sep 25, 2025 |
| Spinocerebellar ataxia type 5 | 1 | Sep 25, 2025 |
| Spinocerebellar ataxia type 6 | 1 | Dec 29, 2023 |
| Spinocerebellar ataxia with epilepsy | 4 | Sep 25, 2025 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Sep 25, 2025 |
| Sponastrime dysplasia | 1 | Apr 26, 2021 |
| Spondylocarpotarsal synostosis syndrome | 2 | Sep 25, 2025 |
| Spondylocostal dysostosis 3, autosomal recessive | 1 | Sep 25, 2025 |
| Spondylodysplastic Ehlers-Danlos syndrome | 1 | Sep 25, 2025 |
| Spondyloenchondrodysplasia with immune dysregulation | 1 | Sep 25, 2025 |
| Spondyloepimetaphyseal dysplasia with joint laxity | 1 | Sep 25, 2025 |
| Spondyloepimetaphyseal dysplasia, Bieganski type | 1 | Sep 25, 2025 |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 1 | Apr 26, 2021 |
| Spondyloepiphyseal dysplasia, Stanescu type | 1 | Apr 26, 2021 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 2 | Sep 25, 2025 |
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 1 | Sep 25, 2025 |
| Spondyloperipheral dysplasia | 1 | Apr 26, 2021 |
| Stargardt disease | 1 | Sep 25, 2025 |
| Sterile multifocal osteomyelitis with periostitis and pustulosis | 1 | Sep 25, 2025 |
| Stickler syndrome | 1 | Sep 25, 2025 |
| Stickler syndrome type 1 | 1 | Apr 26, 2021 |
| Stickler syndrome type 2 | 5 | Sep 25, 2025 |
| Stickler syndrome, type 4 | 3 | Sep 25, 2025 |
| Stickler syndrome, type 6 | 1 | Sep 25, 2025 |
| Stiff skin syndrome | 7 | Dec 29, 2023 |
| Stormorken syndrome | 2 | Dec 29, 2023 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Sep 25, 2025 |
| Sucrase-isomaltase deficiency | 3 | Sep 25, 2025 |
| Sulfite oxidase deficiency | 2 | Dec 29, 2023 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 | Apr 26, 2021 |
| Supravalvar aortic stenosis | 1 | Sep 25, 2025 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 2 | Sep 25, 2025 |
| Susceptibility to respiratory infections associated with CD8alpha chain mutation | 1 | Sep 25, 2025 |
| Symmetrical dyschromatosis of extremities | 2 | Sep 25, 2025 |
| Syndromic intellectual disability | 2 | Sep 25, 2025 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 1 | Dec 29, 2023 |
| TFRC-related combined immunodeficiency | 1 | Sep 25, 2025 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Sep 28, 2023 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 2 | Sep 25, 2025 |
| TRPV4-related bone disorder | 2 | Sep 25, 2025 |
| TTN-related disorder | 3 | Dec 29, 2023 |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 2 | Sep 25, 2025 |
| Tay-Sachs disease | 1 | Sep 25, 2025 |
| Thanatophoric dysplasia type 1 | 1 | Dec 29, 2023 |
| Thrombocytopenia 2 | 1 | Sep 25, 2025 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Dec 29, 2023 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 1 | Dec 29, 2023 |
| Thyroid dyshormonogenesis 6 | 1 | Sep 25, 2025 |
| Tibial muscular dystrophy | 11 | Sep 25, 2025 |
| Timothy syndrome | 2 | Sep 25, 2025 |
| Tooth agenesis, selective, 4 | 2 | Apr 26, 2021 |
| Transcobalamin II deficiency | 1 | Sep 25, 2025 |
| Trichohepatoenteric syndrome | 1 | Sep 25, 2025 |
| Trichohepatoenteric syndrome 2 | 1 | Sep 25, 2025 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 1 | Dec 29, 2023 |
| Trichothiodystrophy 4, nonphotosensitive | 1 | Sep 25, 2025 |
| Trichothiodystrophy 5, nonphotosensitive | 1 | Sep 25, 2025 |
| Troyer syndrome | 1 | Sep 28, 2023 |
| Tuberous sclerosis 1 | 1 | Sep 25, 2025 |
| Tuberous sclerosis 2 | 3 | Dec 29, 2023 |
| Tumor predisposition syndrome 3 | 3 | Sep 25, 2025 |
| Type 2 diabetes mellitus | 1 | Sep 28, 2023 |
| Type A2 brachydactyly | 1 | Sep 25, 2025 |
| Tyrosinase-positive oculocutaneous albinism | 2 | Sep 25, 2025 |
| USH2A-related disorder | 2 | Sep 25, 2025 |
| Ullrich congenital muscular dystrophy 1A | 12 | Sep 25, 2025 |
| Ullrich congenital muscular dystrophy 2 | 16 | Sep 25, 2025 |
| Usher syndrome | 1 | Sep 25, 2025 |
| Usher syndrome type 1 | 2 | Sep 25, 2025 |
| Usher syndrome type 1C | 1 | Sep 25, 2025 |
| Usher syndrome type 1D | 4 | Sep 25, 2025 |
| Usher syndrome type 1F | 1 | Sep 25, 2025 |
| Usher syndrome type 2A | 7 | Sep 25, 2025 |
| Usher syndrome type 2C | 1 | Apr 26, 2021 |
| Usher syndrome type 2D | 2 | Sep 25, 2025 |
| Usher syndrome type 3 | 1 | Apr 26, 2021 |
| Usher syndrome type 3B | 1 | Apr 26, 2021 |
| Usher syndrome, type 1M | 1 | Sep 25, 2025 |
| Usher syndrome, type IIC, GPR98/PDZD7 digenic | 2 | Sep 25, 2025 |
| VACTERL association, X-linked, with or without hydrocephalus | 1 | Sep 25, 2025 |
| Van Maldergem syndrome 1 | 1 | Sep 25, 2025 |
| Van Maldergem syndrome 2 | 3 | Sep 25, 2025 |
| Ventricular septal defect 1 | 1 | Sep 25, 2025 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Sep 25, 2025 |
| Vici syndrome | 5 | Sep 25, 2025 |
| Vitamin D-dependent rickets type II with alopecia | 1 | Dec 29, 2023 |
| Vitelliform macular dystrophy 1 | 1 | Dec 29, 2023 |
| Vitelliform macular dystrophy 4 | 2 | Dec 29, 2023 |
| Vitelliform macular dystrophy 5 | 1 | Sep 25, 2025 |
| Vitreoretinopathy | 1 | Sep 25, 2025 |
| Von Hippel-Lindau syndrome | 4 | Sep 25, 2025 |
| WFS1-Related Spectrum Disorders | 1 | Sep 25, 2025 |
| Waardenburg syndrome type 2A | 1 | Apr 26, 2021 |
| Wagner disease | 2 | Sep 25, 2025 |
| Weaver syndrome | 1 | Sep 25, 2025 |
| Weill-Marchesani 4 syndrome, recessive | 3 | Sep 25, 2025 |
| Weill-Marchesani syndrome 2, dominant | 2 | Sep 25, 2025 |
| Weill-Marchesani syndrome 3 | 1 | Sep 25, 2025 |
| Werdnig-Hoffmann disease | 1 | Sep 25, 2025 |
| Werner syndrome | 7 | Sep 25, 2025 |
| Wiedemann-Steiner syndrome | 1 | Dec 29, 2023 |
| Wilms tumor 1 | 2 | Sep 25, 2025 |
| Wilson disease | 3 | Dec 29, 2023 |
| Wolcott-Rallison dysplasia | 1 | Sep 25, 2025 |
| Wolfram syndrome 1 | 3 | Sep 25, 2025 |
| Wolfram-like syndrome | 3 | Sep 25, 2025 |
| Wolman disease | 1 | Sep 25, 2025 |
| Wrinkly skin syndrome | 1 | Sep 25, 2025 |
| X-linked Alport syndrome | 1 | Apr 26, 2021 |
| X-linked distal spinal muscular atrophy type 3 | 1 | Dec 29, 2023 |
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 1 | Dec 29, 2023 |
| X-linked intellectual disability with marfanoid habitus | 5 | Sep 25, 2025 |
| X-linked intellectual disability, Cantagrel type | 1 | Sep 28, 2023 |
| Xeroderma pigmentosum group B | 1 | Sep 25, 2025 |
| Xeroderma pigmentosum, group F | 1 | Apr 26, 2021 |
| Yunis-Varon syndrome | 2 | Dec 29, 2023 |
| Zellweger spectrum disorders | 3 | Sep 25, 2025 |
| alpha Thalassemia | 1 | Apr 26, 2021 |
| not provided | 156 | Mar 10, 2026 |
