| 11p partial monosomy syndrome | 1 | Apr 26, 2021 |
| 3-Methylglutaconic aciduria | 1 | Dec 29, 2023 |
| 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 |
| AIP-Related Familial Isolated Pituitary Adenomas | 1 | Dec 29, 2023 |
| 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 |
| Achondrogenesis type II | 1 | Apr 26, 2021 |
| Achondroplasia | 1 | Dec 29, 2023 |
| Achromatopsia | 1 | Apr 26, 2021 |
| Achromatopsia 3 | 1 | Apr 26, 2021 |
| Acrocallosal syndrome | 1 | Dec 29, 2023 |
| Acromesomelic dysplasia 1, Maroteaux type | 1 | Apr 26, 2021 |
| Acromicric dysplasia | 1 | Dec 29, 2023 |
| Actin accumulation myopathy | 1 | Dec 29, 2023 |
| Acute intermittent porphyria | 2 | Apr 26, 2021 |
| Acute lymphoid leukemia | 1 | Dec 29, 2023 |
| Acute myeloid leukemia | 2 | Sep 28, 2023 |
| Adams-Oliver syndrome 2 | 1 | Apr 26, 2021 |
| Adams-Oliver syndrome 5 | 5 | Dec 29, 2023 |
| Adenomatous polyp of colon | 1 | Dec 29, 2023 |
| Adenylosuccinate lyase deficiency | 1 | Dec 29, 2023 |
| Adrenoleukodystrophy | 3 | Dec 29, 2023 |
| Agammaglobulinemia 2, autosomal recessive | 1 | Apr 26, 2021 |
| Age-related macular degeneration | 2 | Apr 26, 2021 |
| Aicardi-Goutieres syndrome 3 | 1 | Apr 26, 2021 |
| Aicardi-Goutieres syndrome 5 | 1 | Apr 26, 2021 |
| Aicardi-Goutieres syndrome 7 | 3 | Apr 26, 2021 |
| 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 | 1 | Dec 29, 2023 |
| Amyloidosis, hereditary systemic 1 | 3 | Apr 26, 2021 |
| Amyotrophic lateral sclerosis type 1 | 4 | Apr 26, 2021 |
| Amyotrophic lateral sclerosis type 4 | 2 | Dec 29, 2023 |
| Amyotrophic lateral sclerosis type 5 | 9 | Dec 29, 2023 |
| Andersen Tawil syndrome | 1 | Apr 26, 2021 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Apr 26, 2021 |
| Angelman syndrome | 1 | Apr 26, 2021 |
| Angelman syndrome-like | 1 | Dec 29, 2023 |
| Anophthalmia-microphthalmia syndrome | 1 | Dec 29, 2023 |
| 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 | 5 | Apr 26, 2021 |
| Aplastic anemia | 1 | Dec 29, 2023 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2 | Dec 29, 2023 |
| Arrhythmogenic right ventricular cardiomyopathy | 1 | Dec 29, 2023 |
| Arrhythmogenic right ventricular dysplasia 2 | 4 | Dec 29, 2023 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Dec 29, 2023 |
| Arthrogryposis multiplex congenita 3, myogenic type | 1 | Apr 26, 2021 |
| Asphyxiating thoracic dystrophy 1 | 2 | Dec 29, 2023 |
| Asphyxiating thoracic dystrophy 2 | 1 | Dec 29, 2023 |
| Ataxia-hypogonadism-choroidal dystrophy syndrome | 2 | Apr 26, 2021 |
| Ataxia-telangiectasia syndrome | 40 | Dec 29, 2023 |
| Ataxia-telangiectasia-like disorder | 1 | Apr 26, 2021 |
| Atrial fibrillation, familial, 1 | 1 | Dec 29, 2023 |
| Atrial fibrillation, familial, 9 | 1 | Apr 26, 2021 |
| Atrial septal defect 5 | 2 | Dec 29, 2023 |
| Attenuated familial adenomatous polyposis | 1 | Dec 29, 2023 |
| Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 1 | Dec 29, 2023 |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 | Dec 29, 2023 |
| Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 1 | Apr 26, 2021 |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 1 | Dec 29, 2023 |
| 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 centronuclear myopathy | 1 | Apr 26, 2021 |
| Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 | Apr 26, 2021 |
| 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 hypocalcemia 1 | 4 | Dec 29, 2023 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 | Dec 29, 2023 |
| Autosomal dominant neovascular inflammatory vitreoretinopathy | 1 | Apr 26, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | Apr 26, 2021 |
| Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 | Dec 29, 2023 |
| Autosomal dominant osteopetrosis 1 | 1 | Apr 26, 2021 |
| Autosomal dominant spastic paraplegia type 9 | 1 | Dec 29, 2023 |
| Autosomal recessive Alport syndrome | 1 | Apr 26, 2021 |
| Autosomal recessive ataxia, Beauce type | 2 | Dec 29, 2023 |
| Autosomal recessive centronuclear myopathy | 1 | Dec 29, 2023 |
| Autosomal recessive complex spastic paraplegia type 9B | 1 | Dec 29, 2023 |
| Autosomal recessive distal spinal muscular atrophy 1 | 3 | Dec 29, 2023 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Apr 26, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Apr 26, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 1 | Apr 26, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Dec 29, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 8 | Dec 29, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Dec 29, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Apr 26, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2P | 2 | Apr 26, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 9 | Dec 29, 2023 |
| Autosomal recessive myogenic arthrogryposis multiplex congenita | 1 | Dec 29, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Dec 29, 2023 |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 | Apr 26, 2021 |
| Autosomal recessive osteopetrosis 2 | 2 | Dec 29, 2023 |
| Autosomal recessive retinitis pigmentosa | 2 | Dec 29, 2023 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 | Apr 26, 2021 |
| Autosomal recessive spastic paraplegia type 78 | 1 | Dec 29, 2023 |
| Avascular necrosis of femoral head, primary, 1 | 1 | Apr 26, 2021 |
| BAP1-related tumor predisposition syndrome | 1 | Dec 29, 2023 |
| BENTA disease | 2 | Apr 26, 2021 |
| BRCA2-related disorder | 24 | Dec 29, 2023 |
| BRIP1-related disorder | 7 | Dec 29, 2023 |
| Baller-Gerold syndrome | 4 | Dec 29, 2023 |
| Bannayan-Riley-Ruvalcaba syndrome | 1 | Dec 29, 2023 |
| Bardet-Biedl syndrome | 2 | Dec 29, 2023 |
| Bardet-Biedl syndrome 11 | 1 | Apr 26, 2021 |
| Bartter disease type 3 | 1 | Dec 29, 2023 |
| Bartter syndrome with hypocalcemia | 3 | Dec 29, 2023 |
| Becker muscular dystrophy | 1 | Apr 26, 2021 |
| Beckwith-Wiedemann syndrome | 1 | Dec 29, 2023 |
| Bethlem myopathy 1A | 9 | Dec 29, 2023 |
| Bethlem myopathy 2 | 13 | Dec 29, 2023 |
| Biotinidase deficiency | 1 | Apr 26, 2021 |
| Birt-Hogg-Dube syndrome | 2 | Dec 29, 2023 |
| Blau syndrome | 3 | Apr 26, 2021 |
| Blepharocheilodontic syndrome 1 | 1 | Dec 29, 2023 |
| Blepharophimosis - intellectual disability syndrome, MKB type | 2 | Sep 28, 2023 |
| Bloom syndrome | 1 | Apr 26, 2021 |
| Blue color blindness | 1 | Dec 29, 2023 |
| Breast cancer, susceptibility to | 3 | Dec 29, 2023 |
| 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 | 4 | Dec 29, 2023 |
| Brittle cornea syndrome 1 | 1 | Sep 28, 2023 |
| Brody myopathy | 3 | Dec 29, 2023 |
| Brown-Vialetto-van Laere syndrome 1 | 2 | Dec 29, 2023 |
| Brown-Vialetto-van Laere syndrome 2 | 1 | Dec 29, 2023 |
| Brugada syndrome 1 | 2 | Apr 26, 2021 |
| Brugada syndrome 5 | 1 | Dec 29, 2023 |
| CAPN3-related disorder | 2 | Apr 26, 2021 |
| CDH23-related disorder | 1 | Dec 29, 2023 |
| CEP290-related disorder | 1 | Dec 29, 2023 |
| CHARGE syndrome | 3 | Dec 29, 2023 |
| CHEK2-related cancer predisposition | 21 | Dec 29, 2023 |
| COL12A1-related disorder | 1 | Dec 29, 2023 |
| Café-au-lait macules with pulmonary stenosis | 10 | Dec 29, 2023 |
| Cardiac valvular dysplasia, X-linked | 1 | Apr 26, 2021 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2 | Dec 29, 2023 |
| Carney-Stratakis syndrome | 1 | Dec 29, 2023 |
| Carnitine palmitoyltransferase II deficiency | 2 | Dec 29, 2023 |
| Catecholaminergic polymorphic ventricular tachycardia | 1 | Apr 26, 2021 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 4 | Dec 29, 2023 |
| Cenani-Lenz syndactyly syndrome | 1 | Dec 29, 2023 |
| Central core disease, autosomal recessive | 1 | Dec 29, 2023 |
| Central core myopathy | 6 | Dec 29, 2023 |
| Centronuclear myopathy | 1 | Dec 29, 2023 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Dec 29, 2023 |
| Cernunnos-XLF deficiency | 2 | Apr 26, 2021 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 7 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease axonal type 2C | 3 | Dec 29, 2023 |
| 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 | 4 | Dec 29, 2023 |
| 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 | 13 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease axonal type 2Z | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate B | 1 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate C | 2 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate D | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate F | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease recessive intermediate A | 1 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease recessive intermediate C | 3 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease type 1B | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 1E | 1 | Dec 29, 2023 |
| 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 | 2 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease type 2B2 | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 2I | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 2J | 2 | Dec 29, 2023 |
| 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 | 4 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 4C | 2 | Apr 26, 2021 |
| Charcot-Marie-Tooth disease type 4D | 2 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease type 4F | 2 | Dec 29, 2023 |
| 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, type 2A | 1 | Dec 29, 2023 |
| Charcot-Marie-Tooth disease, type IA | 2 | Dec 29, 2023 |
| Chromosome 1p36 deletion syndrome | 1 | Apr 26, 2021 |
| Chromosome 2q37 deletion syndrome | 1 | Sep 28, 2023 |
| Chronic granulomatous disease, autosomal, due to deficiency of CYBA | 1 | Apr 26, 2021 |
| Chudley-McCullough syndrome | 1 | Apr 26, 2021 |
| Chuvash polycythemia | 3 | Apr 26, 2021 |
| Chédiak-Higashi syndrome | 4 | Dec 29, 2023 |
| Ciliary dyskinesia, primary, 37 | 1 | Apr 26, 2021 |
| Classic homocystinuria | 1 | Apr 26, 2021 |
| 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 | 3 | Dec 29, 2023 |
| Collagen 6-related myopathy | 5 | Dec 29, 2023 |
| Colorectal cancer | 2 | Dec 29, 2023 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 5 | Apr 26, 2021 |
| Colorectal cancer, susceptibility to, 10 | 4 | Dec 29, 2023 |
| Colorectal cancer, susceptibility to, 12 | 5 | Dec 29, 2023 |
| Combined immunodeficiency due to DOCK8 deficiency | 2 | Dec 29, 2023 |
| 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 | 2 | Dec 29, 2023 |
| Combined immunodeficiency due to ZAP70 deficiency | 1 | Apr 26, 2021 |
| Combined immunodeficiency with skin granulomas | 1 | Dec 29, 2023 |
| Combined oxidative phosphorylation defect type 27 | 1 | Apr 26, 2021 |
| Compton-North congenital myopathy | 3 | Sep 28, 2023 |
| Cone dystrophy 4 | 1 | Apr 26, 2021 |
| Cone-rod dystrophy 12 | 1 | Apr 26, 2021 |
| Cone-rod dystrophy 19 | 1 | Dec 29, 2023 |
| Cone-rod dystrophy 3 | 2 | Apr 26, 2021 |
| Cone-rod dystrophy 6 | 1 | Apr 26, 2021 |
| Congenital Muscular Dystrophy, LAMA2-related | 1 | Dec 29, 2023 |
| Congenital Stationary Night Blindness, Dominant | 1 | Dec 29, 2023 |
| Congenital bilateral absence of vas deferens | 1 | Dec 29, 2023 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 3 | Dec 29, 2023 |
| Congenital bile acid synthesis defect 3 | 2 | Dec 29, 2023 |
| Congenital disorder of deglycosylation | 1 | Apr 26, 2021 |
| Congenital hyperammonemia, type I | 1 | Dec 29, 2023 |
| Congenital lactase deficiency | 1 | Dec 29, 2023 |
| Congenital multicore myopathy with external ophthalmoplegia | 1 | Apr 26, 2021 |
| Congenital muscular dystrophy due to LMNA mutation | 3 | Dec 29, 2023 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 | Apr 26, 2021 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Apr 26, 2021 |
| Congenital myasthenic syndrome 10 | 1 | Apr 26, 2021 |
| Congenital myasthenic syndrome 16 | 3 | Dec 29, 2023 |
| Congenital myasthenic syndrome 4C | 1 | Apr 26, 2021 |
| Congenital myasthenic syndrome 8 | 2 | Apr 26, 2021 |
| Congenital myasthenic syndrome 9 | 3 | Dec 29, 2023 |
| Congenital myopathy with fiber type disproportion | 5 | Dec 29, 2023 |
| Congenital myopathy with internal nuclei and atypical cores | 2 | Apr 26, 2021 |
| Congenital myotonia, autosomal dominant form | 8 | Dec 29, 2023 |
| Congenital myotonia, autosomal recessive form | 7 | Dec 29, 2023 |
| Congenital sodium diarrhea | 1 | Dec 29, 2023 |
| Congenital stationary night blindness | 1 | Dec 29, 2023 |
| Congenital stationary night blindness 1E | 2 | Dec 29, 2023 |
| Congenital stationary night blindness autosomal dominant 1 | 2 | Apr 26, 2021 |
| 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 |
| Craniosynostosis 7 | 1 | Apr 26, 2021 |
| Crohn disease | 1 | Apr 26, 2021 |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 | Dec 29, 2023 |
| Currarino triad | 1 | Apr 26, 2021 |
| Cutis laxa, X-linked | 1 | Dec 29, 2023 |
| Cutis laxa, autosomal dominant 3 | 1 | Dec 29, 2023 |
| Cystic fibrosis | 3 | Dec 29, 2023 |
| D-2-hydroxyglutaric aciduria 1 | 1 | Dec 29, 2023 |
| DICER1-related tumor predisposition | 4 | Dec 29, 2023 |
| DLD-related disorder | 1 | Dec 29, 2023 |
| DNA ligase IV deficiency | 1 | Apr 26, 2021 |
| DOCK2 deficiency | 3 | Sep 28, 2023 |
| DYSF-related disorder | 1 | Sep 6, 2023 |
| Deafness-lymphedema-leukemia syndrome | 3 | Dec 29, 2023 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Apr 26, 2021 |
| Deficiency of the interleukin-36 receptor antagonist | 1 | Sep 28, 2023 |
| Desmin-related myofibrillar myopathy | 2 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy 94 | 1 | Apr 26, 2021 |
| Developmental and epileptic encephalopathy, 1 | 4 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 14 | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 18 | 2 | Apr 26, 2021 |
| Developmental and epileptic encephalopathy, 2 | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 29 | 1 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 33 | 1 | Apr 26, 2021 |
| Developmental and epileptic encephalopathy, 4 | 1 | Apr 26, 2021 |
| Developmental and epileptic encephalopathy, 42 | 2 | Dec 29, 2023 |
| Developmental and epileptic encephalopathy, 46 | 1 | Dec 29, 2023 |
| 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 | 1 | Apr 26, 2021 |
| Dilated cardiomyopathy 1A | 1 | Apr 26, 2021 |
| Dilated cardiomyopathy 1C | 1 | Dec 29, 2023 |
| Dilated cardiomyopathy 1E | 1 | Apr 26, 2021 |
| Dilated cardiomyopathy 1GG | 1 | Dec 29, 2023 |
| Dilated cardiomyopathy 1I | 1 | Dec 29, 2023 |
| Dilated cardiomyopathy 1R | 2 | Dec 29, 2023 |
| Dilated cardiomyopathy 3B | 1 | Apr 26, 2021 |
| Distal hereditary motor neuropathy type 2 | 1 | Sep 6, 2023 |
| Distal myopathy with anterior tibial onset | 2 | Apr 26, 2021 |
| Distal myopathy with posterior leg and anterior hand involvement | 4 | Apr 26, 2021 |
| Donnai-Barrow syndrome | 1 | Dec 29, 2023 |
| Drash syndrome | 1 | Apr 26, 2021 |
| Duchenne muscular dystrophy | 1 | Apr 26, 2021 |
| Dyskeratosis congenita, autosomal dominant 2 | 1 | Apr 26, 2021 |
| Dyskeratosis congenita, autosomal dominant 6 | 1 | Apr 26, 2021 |
| 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 | 2 | Dec 29, 2023 |
| Ectopia lentis 1, isolated, autosomal dominant | 6 | Dec 29, 2023 |
| Ectopia lentis et pupillae | 1 | Apr 26, 2021 |
| Ehlers-Danlos syndrome, arthrochalasia type | 4 | Apr 26, 2021 |
| Ehlers-Danlos syndrome, cardiac valvular type | 3 | Apr 26, 2021 |
| Ehlers-Danlos syndrome, classic type | 3 | Dec 29, 2023 |
| Ehlers-Danlos syndrome, classic type, 1 | 10 | Dec 29, 2023 |
| Ehlers-Danlos syndrome, classic type, 2 | 4 | Dec 29, 2023 |
| Ehlers-Danlos syndrome, dermatosparaxis type | 5 | Dec 29, 2023 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Apr 26, 2021 |
| Ehlers-Danlos syndrome, spondylocheirodysplastic type | 1 | Apr 26, 2021 |
| Ehlers-Danlos syndrome, type 4 | 5 | Dec 29, 2023 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 3 | Sep 28, 2023 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 | Apr 26, 2021 |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 2 | Apr 26, 2021 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2 | Dec 29, 2023 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 3 | Dec 29, 2023 |
| Endometrial carcinoma | 1 | Dec 29, 2023 |
| Epidermodysplasia verruciformis, susceptibility to, 1 | 1 | Dec 29, 2023 |
| Epidermolysis bullosa dystrophica | 2 | Apr 26, 2021 |
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 5 | Dec 29, 2023 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 9 | Dec 29, 2023 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 8 | Dec 29, 2023 |
| Epidermolysis bullosa simplex, Ogna type | 6 | Dec 29, 2023 |
| Episodic ataxia type 2 | 2 | Dec 29, 2023 |
| Episodic pain syndrome, familial, 2 | 2 | Apr 26, 2021 |
| Epithelial recurrent erosion dystrophy | 1 | Sep 28, 2023 |
| Exudative vitreoretinopathy 4 | 1 | Apr 26, 2021 |
| Exudative vitreoretinopathy 6 | 1 | Apr 26, 2021 |
| FG syndrome | 1 | Sep 28, 2023 |
| FG syndrome 1 | 1 | Apr 26, 2021 |
| FLNA-related disorder | 1 | Dec 29, 2023 |
| Fabry disease | 2 | Dec 29, 2023 |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 14 | Dec 29, 2023 |
| Familial Mediterranean fever | 2 | Sep 28, 2023 |
| Familial Mediterranean fever, autosomal dominant | 2 | Sep 28, 2023 |
| Familial adenomatous polyposis 1 | 5 | Dec 29, 2023 |
| Familial adenomatous polyposis 2 | 11 | Dec 29, 2023 |
| Familial adenomatous polyposis 3 | 8 | Dec 29, 2023 |
| Familial adenomatous polyposis 4 | 4 | Dec 29, 2023 |
| Familial cancer of breast | 43 | Dec 29, 2023 |
| Familial cold autoinflammatory syndrome 3 | 1 | Dec 29, 2023 |
| Familial colorectal cancer | 16 | Dec 29, 2023 |
| Familial dysautonomia | 1 | Apr 26, 2021 |
| Familial episodic pain syndrome with predominantly lower limb involvement | 4 | Dec 29, 2023 |
| Familial exudative vitreoretinopathy | 1 | Dec 29, 2023 |
| Familial hemophagocytic lymphohistiocytosis | 1 | Apr 26, 2021 |
| Familial hypercholesterolemia | 1 | Apr 26, 2021 |
| Familial hyperkalemic periodic paralysis | 4 | Dec 29, 2023 |
| Familial hypocalciuric hypercalcemia | 3 | Dec 29, 2023 |
| Familial hypocalciuric hypercalcemia 1 | 1 | Dec 29, 2023 |
| Familial hypoparathyroidism | 1 | Dec 29, 2023 |
| Familial melanoma | 1 | Apr 26, 2021 |
| Familial ovarian cancer | 2 | Dec 29, 2023 |
| Familial partial lipodystrophy, Dunnigan type | 2 | Apr 26, 2021 |
| Familial temporal lobe epilepsy 7 | 1 | Apr 26, 2021 |
| Familial thoracic aortic aneurysm and aortic dissection | 8 | Dec 29, 2023 |
| Fanconi anemia complementation group A | 3 | Sep 28, 2023 |
| Fanconi anemia complementation group C | 3 | Dec 29, 2023 |
| Fanconi anemia complementation group D1 | 20 | Dec 29, 2023 |
| Fanconi anemia complementation group D2 | 1 | Apr 26, 2021 |
| Fanconi anemia complementation group G | 1 | Dec 29, 2023 |
| Fanconi anemia complementation group I | 2 | Dec 29, 2023 |
| Fanconi anemia complementation group J | 4 | Dec 29, 2023 |
| Fanconi anemia complementation group N | 8 | Dec 29, 2023 |
| Fanconi anemia complementation group O | 3 | Sep 28, 2023 |
| Fanconi anemia complementation group P | 2 | Dec 29, 2023 |
| Fanconi anemia complementation group Q | 1 | Apr 26, 2021 |
| Febrile seizures, familial, 1 | 2 | Dec 29, 2023 |
| Fetal akinesia deformation sequence 1 | 3 | Dec 29, 2023 |
| Fetal akinesia deformation sequence 3 | 1 | Apr 26, 2021 |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome | 1 | Apr 26, 2021 |
| Focal dermal hypoplasia | 1 | Dec 29, 2023 |
| Focal segmental glomerulosclerosis 5 | 1 | Apr 26, 2021 |
| Frasier syndrome | 1 | Apr 26, 2021 |
| Fumarase deficiency | 2 | Dec 29, 2023 |
| GARS-Associated Axonal Neuropathy | 1 | Apr 26, 2021 |
| GNE myopathy | 2 | Dec 29, 2023 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Apr 26, 2021 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Apr 26, 2021 |
| Gastrointestinal defect and immunodeficiency syndrome | 1 | Dec 29, 2023 |
| Gastrointestinal stromal tumor | 4 | Dec 29, 2023 |
| Geleophysic dysplasia 2 | 2 | Dec 29, 2023 |
| Generalized epilepsy with febrile seizures plus | 5 | Dec 29, 2023 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Dec 29, 2023 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | Dec 29, 2023 |
| 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 | 2 | Dec 29, 2023 |
| Giant axonal neuropathy 1 | 1 | Sep 28, 2023 |
| Glioma susceptibility 1 | 1 | Dec 29, 2023 |
| Glutaric aciduria, type 1 | 1 | Dec 29, 2023 |
| Glycogen storage disease, type II | 3 | Apr 26, 2021 |
| Glycogen storage disease, type VI | 1 | Dec 29, 2023 |
| Gnathodiaphyseal dysplasia | 1 | Dec 29, 2023 |
| Gorlin syndrome | 3 | Dec 29, 2023 |
| Granulomatous disease, chronic, X-linked | 1 | Apr 26, 2021 |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 | Dec 29, 2023 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Dec 29, 2023 |
| Hearing loss, autosomal recessive 57 | 1 | Apr 26, 2021 |
| Heimler syndrome 1 | 1 | Dec 29, 2023 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 1 | Sep 28, 2023 |
| Hereditary breast ovarian cancer syndrome | 32 | Dec 29, 2023 |
| Hereditary cancer-predisposing syndrome | 9 | Dec 29, 2023 |
| Hereditary diffuse gastric adenocarcinoma | 13 | Dec 29, 2023 |
| Hereditary hemochromatosis | 2 | Apr 26, 2021 |
| Hereditary hemorrhagic telangiectasia | 2 | Sep 28, 2023 |
| Hereditary hyperekplexia | 1 | Dec 29, 2023 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Dec 29, 2023 |
| Hereditary leiomyomatosis and renal cell cancer | 3 | Dec 29, 2023 |
| Hereditary liability to pressure palsies | 2 | Dec 29, 2023 |
| Hereditary motor and sensory neuropathy with optic atrophy | 1 | Sep 28, 2023 |
| Hereditary nonpolyposis colon cancer | 5 | Dec 29, 2023 |
| Hereditary pancreatitis | 4 | Dec 29, 2023 |
| Hereditary pheochromocytoma-paraganglioma | 3 | Dec 29, 2023 |
| Hereditary sensory and autonomic neuropathy type 6 | 5 | Dec 29, 2023 |
| Hereditary sensory and autonomic neuropathy type 7 | 4 | Dec 29, 2023 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 11 | 13 | Dec 29, 2023 |
| Hereditary spastic paraplegia 15 | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 26 | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 39 | 2 | Apr 26, 2021 |
| Hereditary spastic paraplegia 3A | 2 | Dec 29, 2023 |
| Hereditary spastic paraplegia 4 | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 44 | 1 | Apr 26, 2021 |
| Hereditary spastic paraplegia 5A | 2 | Dec 29, 2023 |
| Hereditary spastic paraplegia 64 | 1 | Dec 29, 2023 |
| Hereditary spastic paraplegia 7 | 3 | Dec 29, 2023 |
| Hereditary spastic paraplegia 8 | 1 | Apr 26, 2021 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 | Sep 28, 2023 |
| 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 |
| Heterotopia, periventricular, X-linked dominant | 1 | Apr 26, 2021 |
| High myopia-sensorineural deafness syndrome | 1 | Sep 28, 2023 |
| Hirschsprung disease, susceptibility to, 1 | 4 | Dec 29, 2023 |
| Histiocytic medullary reticulosis | 1 | Apr 26, 2021 |
| Holoprosencephaly 7 | 1 | Apr 26, 2021 |
| Hutchinson-Gilford syndrome | 2 | Apr 26, 2021 |
| Hydrocephalus, nonsyndromic, autosomal recessive 2 | 2 | Apr 26, 2021 |
| 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 |
| Hyperphosphatasia with intellectual disability syndrome 5 | 1 | Dec 29, 2023 |
| Hypertrophic cardiomyopathy 1 | 1 | Apr 26, 2021 |
| Hypertrophic cardiomyopathy 11 | 2 | Dec 29, 2023 |
| Hypertrophic cardiomyopathy 26 | 2 | Apr 26, 2021 |
| Hypertrophic cardiomyopathy 4 | 3 | Dec 29, 2023 |
| 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 | 1 | Apr 26, 2021 |
| Hypokalemic periodic paralysis, type 2 | 4 | Dec 29, 2023 |
| Hypomyelinating leukodystrophy 2 | 1 | Apr 26, 2021 |
| Hypomyelinating leukodystrophy 3 | 1 | Dec 29, 2023 |
| Hypophosphatasia | 3 | Dec 29, 2023 |
| IMAGe syndrome | 1 | Dec 29, 2023 |
| Idiopathic generalized epilepsy | 1 | Dec 29, 2023 |
| Imerslund-Grasbeck syndrome | 1 | Dec 29, 2023 |
| Immunodeficiency 104 | 4 | Dec 29, 2023 |
| Immunodeficiency 11b with atopic dermatitis | 2 | Apr 26, 2021 |
| Immunodeficiency 14 | 1 | Apr 26, 2021 |
| Immunodeficiency 23 | 1 | Apr 26, 2021 |
| Immunodeficiency 25 | 1 | Apr 26, 2021 |
| Immunodeficiency 31B | 1 | Dec 29, 2023 |
| Immunodeficiency 35 | 1 | Dec 29, 2023 |
| Immunodeficiency 67 | 1 | Apr 26, 2021 |
| Immunodeficiency, common variable, 1 | 1 | Apr 26, 2021 |
| Immunodeficiency, common variable, 2 | 1 | Apr 26, 2021 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 | Dec 29, 2023 |
| Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 1 | Apr 26, 2021 |
| Infantile cortical hyperostosis | 3 | Sep 28, 2023 |
| Infantile epileptic dyskinetic encephalopathy | 1 | Apr 26, 2021 |
| Infantile liver failure syndrome 2 | 1 | Apr 26, 2021 |
| Inflammatory bowel disease 1 | 1 | Apr 26, 2021 |
| Inflammatory bowel disease 28 | 1 | Apr 26, 2021 |
| Inflammatory skin and bowel disease, neonatal, 1 | 1 | Apr 26, 2021 |
| Intellectual developmental disorder, autosomal recessive 74 | 1 | Sep 28, 2023 |
| Intellectual disability, X-linked 1 | 1 | Apr 26, 2021 |
| Intellectual disability, autosomal dominant 13 | 3 | Dec 29, 2023 |
| Intellectual disability, autosomal dominant 14 | 1 | Dec 29, 2023 |
| Intellectual disability, autosomal dominant 16 | 2 | Dec 29, 2023 |
| Intellectual disability, autosomal dominant 52 | 1 | Dec 29, 2023 |
| Intellectual disability, autosomal recessive 58 | 1 | Dec 29, 2023 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Dec 29, 2023 |
| Interstitial lung disease 2 | 1 | Apr 26, 2021 |
| Isolated ectopia lentis | 1 | Apr 26, 2021 |
| Joubert syndrome 25 | 1 | Sep 28, 2023 |
| Joubert syndrome 32 | 1 | Dec 29, 2023 |
| Joubert syndrome 8 | 1 | Apr 26, 2021 |
| 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 polyposis syndrome | 1 | Apr 26, 2021 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 1 | Dec 29, 2023 |
| KCNQ2-related disorder | 1 | Dec 29, 2023 |
| Kabuki syndrome 1 | 1 | Apr 26, 2021 |
| Kleefstra syndrome 2 | 1 | Apr 26, 2021 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 2 | Dec 29, 2023 |
| Kniest dysplasia | 1 | Apr 26, 2021 |
| Kufor-Rakeb syndrome | 1 | Dec 29, 2023 |
| L-2-hydroxyglutaric aciduria | 1 | Dec 29, 2023 |
| LAMA2-related muscular dystrophy | 1 | Apr 26, 2021 |
| LIG4-related disorder | 1 | Apr 26, 2021 |
| Landau-Kleffner syndrome | 1 | Dec 29, 2023 |
| Late-onset junctional epidermolysis bullosa | 1 | Sep 28, 2023 |
| Laurence-Moon syndrome | 2 | Apr 26, 2021 |
| Leber congenital amaurosis | 2 | Apr 26, 2021 |
| Leber congenital amaurosis 1 | 1 | Apr 26, 2021 |
| Leber congenital amaurosis 13 | 2 | Dec 29, 2023 |
| Leber congenital amaurosis 8 | 1 | Apr 26, 2021 |
| Left ventricular noncompaction 1 | 4 | Dec 29, 2023 |
| Left ventricular noncompaction 4 | 1 | Apr 26, 2021 |
| Legg-Calve-Perthes disease | 1 | Apr 26, 2021 |
| Lesch-Nyhan syndrome | 1 | Apr 26, 2021 |
| Leukocyte adhesion deficiency 3 | 1 | Apr 26, 2021 |
| Li-Fraumeni syndrome | 1 | Dec 29, 2023 |
| Li-Fraumeni syndrome 1 | 3 | Dec 29, 2023 |
| Li-Fraumeni syndrome 2 | 1 | Dec 29, 2023 |
| 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 4 | 1 | Dec 29, 2023 |
| Long QT syndrome 3 | 1 | Apr 26, 2021 |
| Long QT syndrome 4 | 1 | Sep 28, 2023 |
| Lung cancer | 1 | Dec 29, 2023 |
| Lymphatic malformation 3 | 1 | Apr 26, 2021 |
| Lynch syndrome | 16 | Dec 29, 2023 |
| Lynch syndrome 1 | 3 | Dec 29, 2023 |
| Lynch syndrome 4 | 6 | Apr 26, 2021 |
| Lynch syndrome 5 | 8 | Dec 29, 2023 |
| MASS syndrome | 6 | Sep 28, 2023 |
| MHC class II deficiency | 2 | Dec 29, 2023 |
| MYBPC3-related disorder | 2 | Apr 26, 2021 |
| MYH3-related disorder | 1 | Sep 28, 2023 |
| MYH7-related disorder | 1 | Dec 29, 2023 |
| MYO7A-related disorder | 1 | Sep 28, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 6 | Dec 29, 2023 |
| Malignant hyperthermia, susceptibility to, 5 | 1 | Apr 26, 2021 |
| Malignant tumor of breast | 23 | Dec 29, 2023 |
| Malignant tumor of prostate | 3 | Dec 29, 2023 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 11 | Dec 29, 2023 |
| Mandibuloacral dysplasia with type A lipodystrophy | 1 | Apr 26, 2021 |
| Marfan syndrome | 7 | Dec 29, 2023 |
| Mastocytosis | 2 | Dec 29, 2023 |
| Megacystis, microcolon, hypoperistalsis syndrome | 1 | Dec 29, 2023 |
| Melanoma and neural system tumor syndrome | 3 | Dec 29, 2023 |
| Melanoma, cutaneous malignant, susceptibility to, 1 | 2 | Dec 29, 2023 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 1 | Apr 26, 2021 |
| Melanoma-pancreatic cancer syndrome | 4 | Dec 29, 2023 |
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | 1 | Apr 26, 2021 |
| Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | 1 | Dec 29, 2023 |
| Menkes kinky-hair syndrome | 1 | Dec 29, 2023 |
| Metachromatic leukodystrophy | 1 | Apr 26, 2021 |
| Methylmalonic aciduria, cblB type | 1 | Apr 26, 2021 |
| Microcephaly 9, primary, autosomal recessive | 1 | Sep 28, 2023 |
| Microcephaly and chorioretinopathy 1 | 1 | Apr 26, 2021 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Dec 29, 2023 |
| Microcephaly, normal intelligence and immunodeficiency | 9 | Dec 29, 2023 |
| Migraine, familial hemiplegic, 1 | 1 | Dec 29, 2023 |
| Migraine, familial hemiplegic, 3 | 2 | Dec 29, 2023 |
| Mismatch repair cancer syndrome 1 | 18 | Dec 29, 2023 |
| Mismatch repair cancer syndrome 2 | 4 | Dec 29, 2023 |
| Mismatch repair cancer syndrome 3 | 1 | Dec 29, 2023 |
| Mismatch repair cancer syndrome 4 | 8 | Dec 29, 2023 |
| Mitochondrial complex II deficiency, nuclear type 1 | 7 | Dec 29, 2023 |
| Miyoshi muscular dystrophy 3 | 1 | Dec 29, 2023 |
| Miyoshi myopathy | 2 | Apr 26, 2021 |
| Monocytopenia with susceptibility to infections | 3 | Dec 29, 2023 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Apr 26, 2021 |
| Muenke syndrome | 1 | Dec 29, 2023 |
| Muir-Torré syndrome | 2 | Sep 28, 2023 |
| Multiminicore myopathy | 5 | Dec 29, 2023 |
| 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 | 2 | Dec 29, 2023 |
| Multiple gastrointestinal atresias | 1 | Sep 28, 2023 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Dec 29, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 | Apr 26, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | 1 | Apr 26, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 | Dec 29, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2 | Apr 26, 2021 |
| 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, 12 | 1 | Dec 29, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 | Apr 26, 2021 |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 | Dec 29, 2023 |
| Myhre syndrome | 1 | Dec 29, 2023 |
| Myofibrillar myopathy 4 | 1 | Dec 29, 2023 |
| Myofibrillar myopathy 5 | 4 | Apr 26, 2021 |
| Myopathy, RYR1-associated | 2 | Apr 26, 2021 |
| Myopathy, centronuclear, 2 | 2 | Dec 29, 2023 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 7 | Dec 29, 2023 |
| Myopathy, tubular aggregate, 1 | 3 | Dec 29, 2023 |
| Myopathy, tubular aggregate, 2 | 1 | Apr 26, 2021 |
| 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 2 | 5 | Dec 29, 2023 |
| Nemaline myopathy 8 | 1 | Dec 29, 2023 |
| Neonatal severe primary hyperparathyroidism | 4 | Dec 29, 2023 |
| Neoplasm of stomach | 1 | Apr 26, 2021 |
| Nephronophthisis | 1 | Dec 29, 2023 |
| Nephronophthisis 15 | 2 | Dec 29, 2023 |
| Nephronophthisis 4 | 1 | Apr 26, 2021 |
| Netherton syndrome | 1 | Apr 26, 2021 |
| Neuroblastoma, susceptibility to, 3 | 2 | Dec 29, 2023 |
| Neurodegeneration with brain iron accumulation 6 | 1 | Apr 26, 2021 |
| Neurodevelopmental disorder, MTOR related | 2 | Dec 29, 2023 |
| Neurofibromatosis, type 1 | 13 | Dec 29, 2023 |
| Neurofibromatosis, type 2 | 1 | Apr 26, 2021 |
| Neurofibromatosis-Noonan syndrome | 11 | Dec 29, 2023 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Dec 29, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 1 | Dec 29, 2023 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Sep 28, 2023 |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 | Apr 26, 2021 |
| Neuronopathy, distal hereditary motor, autosomal recessive 4 | 3 | Apr 26, 2021 |
| Neuronopathy, distal hereditary motor, autosomal recessive 5 | 1 | Apr 26, 2021 |
| Neuronopathy, distal hereditary motor, type 2D | 1 | Apr 26, 2021 |
| Neuronopathy, distal hereditary motor, type 7B | 3 | Apr 26, 2021 |
| Neuropathy, hereditary sensory and autonomic, type 1C | 1 | Apr 26, 2021 |
| Neuropathy, hereditary sensory and autonomic, type 2A | 9 | Dec 29, 2023 |
| Neuropathy, hereditary sensory, type 1D | 2 | Dec 29, 2023 |
| Neutral lipid storage myopathy | 2 | Dec 29, 2023 |
| Neutropenia, severe congenital, 2, autosomal dominant | 1 | Dec 29, 2023 |
| Nijmegen breakage syndrome-like disorder | 15 | Dec 29, 2023 |
| 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 |
| Odonto-onycho-dermal dysplasia | 2 | Apr 26, 2021 |
| Oligodontia-cancer predisposition syndrome | 5 | Dec 29, 2023 |
| Oligosynaptic infertility | 1 | Apr 26, 2021 |
| Optic atrophy 3 | 1 | Dec 29, 2023 |
| Osteogenesis imperfecta | 7 | Sep 28, 2023 |
| Osteogenesis imperfecta type 7 | 1 | Apr 26, 2021 |
| Osteoglophonic dysplasia | 1 | Dec 29, 2023 |
| Osteoporosis with pseudoglioma | 1 | Apr 26, 2021 |
| Otopalatodigital Spectrum Disorders | 1 | Apr 26, 2021 |
| Ovarian neoplasm | 1 | Dec 29, 2023 |
| PALB2-related disorder | 6 | Dec 29, 2023 |
| PDE6B-related disorder | 1 | Apr 26, 2021 |
| PEHO-like syndrome | 1 | Dec 29, 2023 |
| PMM2-congenital disorder of glycosylation | 2 | Apr 26, 2021 |
| POLG-related disorder | 2 | Dec 29, 2023 |
| 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 | 2 | Dec 29, 2023 |
| Pancreatic cancer, susceptibility to, 3 | 2 | Dec 29, 2023 |
| Papillary renal cell carcinoma type 1 | 1 | Apr 26, 2021 |
| Paragangliomas 5 | 8 | Dec 29, 2023 |
| Paragangliomas with sensorineural hearing loss | 1 | Dec 29, 2023 |
| Paramyotonia congenita of Von Eulenburg | 4 | Dec 29, 2023 |
| Parkinsonism due to ATP13A2 deficiency | 1 | Dec 29, 2023 |
| Paroxysmal extreme pain disorder | 8 | Dec 29, 2023 |
| Partial hypoxanthine-guanine phosphoribosyltransferase deficiency | 1 | Apr 26, 2021 |
| Patterned macular dystrophy 2 | 1 | Apr 26, 2021 |
| Perlman syndrome | 2 | Dec 29, 2023 |
| 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 |
| Perry syndrome | 4 | Apr 26, 2021 |
| Peutz-Jeghers syndrome | 5 | Dec 29, 2023 |
| Pheochromocytoma | 1 | Apr 26, 2021 |
| Phytanic acid storage disease | 1 | Dec 29, 2023 |
| Piebaldism | 1 | Apr 26, 2021 |
| Pityriasis rubra pilaris | 1 | Apr 26, 2021 |
| Platyspondylic dysplasia, Torrance type | 1 | Apr 26, 2021 |
| Pleuropulmonary blastoma | 1 | Dec 29, 2023 |
| Polycystic liver disease 1 | 1 | Apr 26, 2021 |
| Polyglandular autoimmune syndrome, type 1 | 2 | Apr 26, 2021 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 4 | Dec 29, 2023 |
| Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 3 | Dec 29, 2023 |
| Posterior column ataxia-retinitis pigmentosa syndrome | 1 | Apr 26, 2021 |
| Potassium-aggravated myotonia | 4 | Dec 29, 2023 |
| Prelingual sensorineural hearing impairment | 1 | Apr 26, 2021 |
| Primary ciliary dyskinesia | 1 | Sep 28, 2023 |
| Primary ciliary dyskinesia 10 | 1 | Dec 29, 2023 |
| Primary ciliary dyskinesia 7 | 3 | Dec 29, 2023 |
| Primary dilated cardiomyopathy | 12 | Dec 29, 2023 |
| Primary erythromelalgia | 8 | Dec 29, 2023 |
| Primary familial hypertrophic cardiomyopathy | 2 | Apr 26, 2021 |
| Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | 1 | Apr 26, 2021 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 1 | Dec 29, 2023 |
| Progressive bulbar palsy of childhood | 1 | Dec 29, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Dec 29, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 | Dec 29, 2023 |
| Progressive myoclonic epilepsy type 3 | 1 | Dec 29, 2023 |
| Progressive sclerosing poliodystrophy | 2 | Dec 29, 2023 |
| Properdin deficiency, X-linked | 1 | Apr 26, 2021 |
| Propionic acidemia | 1 | Dec 29, 2023 |
| Pseudohypoaldosteronism type 2C | 1 | Dec 29, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 1 | Apr 26, 2021 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 1 | Sep 28, 2023 |
| Pyridoxal phosphate-responsive seizures | 2 | Dec 29, 2023 |
| Qualitative or quantitative defects of dysferlin | 2 | Apr 26, 2021 |
| RYR1-related disorder | 5 | Dec 29, 2023 |
| Rapadilino syndrome | 4 | Dec 29, 2023 |
| Recessive dystrophic epidermolysis bullosa | 2 | Apr 26, 2021 |
| Renal carnitine transport defect | 3 | Dec 29, 2023 |
| Renal cell carcinoma | 2 | Apr 26, 2021 |
| Retinal cone dystrophy 4 | 1 | Apr 26, 2021 |
| Retinal dystrophy with leukodystrophy | 2 | Apr 26, 2021 |
| Retinal macular dystrophy type 2 | 3 | Dec 29, 2023 |
| Retinitis pigmentosa | 2 | Dec 29, 2023 |
| Retinitis pigmentosa 12 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 13 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 19 | 2 | Apr 26, 2021 |
| Retinitis pigmentosa 32 | 1 | Dec 29, 2023 |
| Retinitis pigmentosa 39 | 2 | Apr 26, 2021 |
| Retinitis pigmentosa 4 | 2 | Apr 26, 2021 |
| Retinitis pigmentosa 41 | 3 | Dec 29, 2023 |
| Retinitis pigmentosa 45 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 66 | 2 | Apr 26, 2021 |
| Retinitis pigmentosa 71 | 1 | Dec 29, 2023 |
| Retinitis pigmentosa 78 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 80 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa 84 | 1 | Apr 26, 2021 |
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 1 | Dec 29, 2023 |
| Rhabdoid tumor predisposition syndrome 2 | 1 | Dec 29, 2023 |
| Rienhoff syndrome | 1 | Apr 26, 2021 |
| Ritscher-Schinzel syndrome 1 | 1 | Apr 26, 2021 |
| Rothmund-Thomson syndrome | 1 | Dec 29, 2023 |
| Rothmund-Thomson syndrome type 2 | 2 | Dec 29, 2023 |
| Rubinstein-Taybi syndrome | 1 | Apr 26, 2021 |
| SCN5A-related disorder | 2 | Dec 29, 2023 |
| SH3TC2-related disorder | 1 | Dec 29, 2023 |
| 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 | 1 | Apr 26, 2021 |
| Sarcotubular myopathy | 1 | Apr 26, 2021 |
| SchC6pf-Schulz-Passarge syndrome | 2 | Apr 26, 2021 |
| Schimke immuno-osseous dysplasia | 1 | Apr 26, 2021 |
| Schwannomatosis | 1 | Dec 29, 2023 |
| Schwannomatosis 2 | 1 | Apr 26, 2021 |
| Seckel syndrome | 1 | Sep 28, 2023 |
| Seckel syndrome 1 | 2 | Dec 29, 2023 |
| Seckel syndrome 5 | 1 | Sep 28, 2023 |
| Seizures, benign familial neonatal, 2 | 1 | Dec 29, 2023 |
| Senior-Loken syndrome 4 | 1 | Apr 26, 2021 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | Dec 29, 2023 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Apr 26, 2021 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 2 | Dec 29, 2023 |
| Severe combined immunodeficiency due to DNA-PKcs deficiency | 2 | Dec 29, 2023 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Dec 29, 2023 |
| Severe early-childhood-onset retinal dystrophy | 1 | Apr 26, 2021 |
| Severe myoclonic epilepsy in infancy | 2 | Dec 29, 2023 |
| Short QT syndrome type 3 | 1 | Apr 26, 2021 |
| Short stature with nonspecific skeletal abnormalities | 1 | Apr 26, 2021 |
| Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 1 | Apr 26, 2021 |
| Short-rib thoracic dysplasia 10 with or without polydactyly | 1 | Dec 29, 2023 |
| Short-rib thoracic dysplasia 8 with or without polydactyly | 1 | Dec 29, 2023 |
| Sialuria | 1 | Apr 26, 2021 |
| Singleton-Merten syndrome 1 | 3 | Apr 26, 2021 |
| Singleton-Merten syndrome 2 | 1 | Apr 26, 2021 |
| Small cell carcinoma of the ovary, hypercalcemic type | 2 | Dec 29, 2023 |
| Spinal muscular atrophy | 1 | Apr 26, 2021 |
| Spinocerebellar ataxia type 6 | 1 | Dec 29, 2023 |
| Spinocerebellar ataxia with epilepsy | 2 | Dec 29, 2023 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 | Dec 29, 2023 |
| Sponastrime dysplasia | 1 | Apr 26, 2021 |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 1 | Apr 26, 2021 |
| Spondyloepiphyseal dysplasia, Stanescu type | 1 | Apr 26, 2021 |
| Spondyloperipheral dysplasia | 1 | Apr 26, 2021 |
| Stickler syndrome type 1 | 1 | Apr 26, 2021 |
| Stickler syndrome, type 4 | 1 | Dec 29, 2023 |
| Stiff skin syndrome | 7 | Dec 29, 2023 |
| Stormorken syndrome | 2 | Dec 29, 2023 |
| Sulfite oxidase deficiency | 2 | Dec 29, 2023 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 | Apr 26, 2021 |
| Surfactant metabolism dysfunction, pulmonary, 4 | 1 | Apr 26, 2021 |
| Symmetrical dyschromatosis of extremities | 1 | Apr 26, 2021 |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency | 1 | Dec 29, 2023 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Sep 28, 2023 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 1 | Dec 29, 2023 |
| TTN-related disorder | 3 | Dec 29, 2023 |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 1 | Apr 26, 2021 |
| Thanatophoric dysplasia type 1 | 1 | Dec 29, 2023 |
| Thrombophilia due to protein S deficiency, autosomal dominant | 1 | Dec 29, 2023 |
| Thrombophilia due to protein S deficiency, autosomal recessive | 1 | Dec 29, 2023 |
| Tibial muscular dystrophy | 8 | Dec 29, 2023 |
| Tooth agenesis, selective, 4 | 2 | Apr 26, 2021 |
| Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | 1 | Dec 29, 2023 |
| Troyer syndrome | 1 | Sep 28, 2023 |
| Tuberous sclerosis 2 | 3 | Dec 29, 2023 |
| Tumor predisposition syndrome 3 | 2 | Apr 26, 2021 |
| Type 2 diabetes mellitus | 1 | Sep 28, 2023 |
| USH2A-related disorder | 1 | Sep 28, 2023 |
| Ullrich congenital muscular dystrophy 1A | 10 | Dec 29, 2023 |
| Ullrich congenital muscular dystrophy 2 | 11 | Dec 29, 2023 |
| Usher syndrome type 1D | 2 | Dec 29, 2023 |
| Usher syndrome type 2A | 2 | Apr 26, 2021 |
| Usher syndrome type 2C | 1 | Apr 26, 2021 |
| Usher syndrome type 2D | 1 | Apr 26, 2021 |
| Usher syndrome type 3 | 1 | Apr 26, 2021 |
| Usher syndrome type 3B | 1 | Apr 26, 2021 |
| Usher syndrome, type IIC, GPR98/PDZD7 digenic | 1 | Apr 26, 2021 |
| Van Maldergem syndrome 2 | 1 | Sep 28, 2023 |
| Vici syndrome | 2 | Dec 29, 2023 |
| 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 |
| Von Hippel-Lindau syndrome | 3 | Apr 26, 2021 |
| Waardenburg syndrome type 2A | 1 | Apr 26, 2021 |
| Weill-Marchesani syndrome 2, dominant | 1 | Dec 29, 2023 |
| Werner syndrome | 2 | Dec 29, 2023 |
| Wiedemann-Steiner syndrome | 1 | Dec 29, 2023 |
| Wilms tumor 1 | 1 | Apr 26, 2021 |
| Wilson disease | 3 | Dec 29, 2023 |
| 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 | 2 | Sep 28, 2023 |
| X-linked intellectual disability, Cantagrel type | 1 | Sep 28, 2023 |
| Xeroderma pigmentosum, group F | 1 | Apr 26, 2021 |
| Yunis-Varon syndrome | 2 | Dec 29, 2023 |
| Zellweger spectrum disorders | 1 | Dec 29, 2023 |
| alpha Thalassemia | 1 | Apr 26, 2021 |
| not provided | 91 | Dec 29, 2023 |
