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 | 4 | 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 |
Angiokeratoma corporis diffusum | 2 | 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 | 4 | 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 | 4 | 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 | 1 | Sep 28, 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 |
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 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 stroma 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 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 cutaneous leiomyomas | 3 | 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 |
Periodic hyperkalemic paralysis | 4 | Dec 29, 2023 |
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 |
Piebald skin depigmentation | 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 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 II 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 |