| 3-methylcrotonyl-CoA carboxylase 2 deficiency | 1 | Jan 23, 2017 |
| 3M syndrome 2 | 1 | Jul 21, 2015 |
| Achondrogenesis, type IB | 1 | Jan 23, 2017 |
| Aicardi-Goutieres syndrome 3 | 3 | Jan 23, 2017 |
| Aldosterone-producing adenoma with seizures and neurological abnormalities | 1 | Jun 26, 2015 |
| Alpha-1-antitrypsin deficiency | 2 | Jan 23, 2017 |
| Alstrom syndrome | 1 | Jan 23, 2017 |
| Alveolar capillary dysplasia with pulmonary venous misalignment | 4 | Jun 17, 2020 |
| Amelogenesis imperfecta type 1C | 1 | Jun 26, 2015 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 4 | Jan 23, 2017 |
| Aortic aneurysm, familial thoracic 4 | 1 | Jun 26, 2015 |
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 1 | Jan 23, 2017 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Jan 23, 2017 |
| Arrhythmogenic right ventricular dysplasia 11 | 1 | Jan 23, 2017 |
| Arrhythmogenic right ventricular dysplasia 2 | 5 | Jan 23, 2017 |
| Arrhythmogenic right ventricular dysplasia 8 | 3 | Jan 23, 2017 |
| Arterial tortuosity syndrome | 1 | Jun 26, 2015 |
| Ataxia-telangiectasia syndrome | 3 | Jan 23, 2017 |
| Atelosteogenesis type II | 1 | Jan 23, 2017 |
| Atrial septal defect 3 | 1 | Jan 23, 2017 |
| Autism | 1 | Jan 23, 2017 |
| Autism, susceptibility to, X-linked 4 | 1 | Jan 23, 2017 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Jan 23, 2017 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 2 | Jan 23, 2017 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 12 | 2 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 15 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 36 | 2 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 3A | 2 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 4A | 2 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Jan 23, 2017 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Jan 23, 2017 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 4 | Jan 23, 2017 |
| Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 16 | 3 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 18A | 1 | Jun 26, 2015 |
| Autosomal recessive nonsyndromic hearing loss 18B | 8 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 1A | 6 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 22 | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 23 | 3 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 3 | 11 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 31 | 3 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 36 | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 39 | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 4 | 2 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 7 | 2 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 77 | 7 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 79 | 2 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Jan 23, 2017 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Jan 23, 2017 |
| Autosomal recessive polycystic kidney disease | 1 | Jan 23, 2017 |
| Baraitser-Winter syndrome 1 | 1 | Jun 26, 2015 |
| Baraitser-winter syndrome 2 | 1 | Jan 23, 2017 |
| Bardet-Biedl syndrome 1 | 1 | Jun 26, 2015 |
| Bardet-Biedl syndrome 10 | 1 | Jan 23, 2017 |
| Benign recurrent intrahepatic cholestasis type 2 | 1 | Jan 23, 2017 |
| Bernard Soulier syndrome | 2 | Jan 23, 2017 |
| Bernard-Soulier syndrome, type A2, autosomal dominant | 1 | Jan 23, 2017 |
| Bethlem myopathy 1A | 2 | Jan 23, 2017 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Jan 23, 2017 |
| Biotinidase deficiency | 2 | Jan 23, 2017 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Jan 23, 2017 |
| Branchiootic syndrome 1 | 1 | Jan 23, 2017 |
| Branchiootic syndrome 3 | 1 | Jan 23, 2017 |
| Branchiootorenal syndrome 1 | 1 | Jan 23, 2017 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | Jun 26, 2015 |
| Brugada syndrome 4 | 1 | Jan 23, 2017 |
| Cardiac arrhythmia, ankyrin-B-related | 2 | Jan 23, 2017 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 1 | Jan 23, 2017 |
| Cardiomyopathy, familial restrictive, 1 | 1 | Jan 23, 2017 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 5 | Jan 23, 2017 |
| Cerebral palsy, spastic quadriplegic, 2 | 1 | Jan 23, 2017 |
| Charcot-Marie-Tooth disease axonal type 2O | 1 | Jan 23, 2017 |
| Childhood hypophosphatasia | 1 | Jan 23, 2017 |
| Citrullinemia type II | 1 | Jan 23, 2017 |
| Cobalamin C disease | 2 | Jan 23, 2017 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 1 | Jan 23, 2017 |
| Combined oxidative phosphorylation defect type 15 | 1 | Jan 23, 2017 |
| Combined oxidative phosphorylation defect type 8 | 1 | Jun 26, 2015 |
| Cone-rod dystrophy 3 | 3 | Jan 23, 2017 |
| Congenital disorder of deglycosylation | 1 | Jan 23, 2017 |
| Congenital hyperammonemia, type I | 1 | Jan 23, 2017 |
| Congenital myasthenic syndrome 11 | 1 | Jan 23, 2017 |
| Congenital myopathy with fiber type disproportion | 1 | Jun 26, 2015 |
| Congenital myotonia, autosomal dominant form | 1 | Jan 23, 2017 |
| Congenital myotonia, autosomal recessive form | 1 | Jan 23, 2017 |
| Congenital stationary night blindness autosomal dominant 1 | 1 | Jan 23, 2017 |
| Coronary heart disease, susceptibility to, 7 | 3 | Jan 23, 2017 |
| Cushing syndrome | 2 | Jan 23, 2017 |
| Cutis laxa, autosomal dominant 2 | 1 | Jan 23, 2017 |
| Cutis laxa, autosomal recessive, type 1A | 1 | Jan 23, 2017 |
| Cystic fibrosis | 3 | Jan 23, 2017 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Jan 23, 2017 |
| Deficiency of 2-methylbutyryl-CoA dehydrogenase | 1 | Jun 26, 2015 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Jan 23, 2017 |
| Deficiency of steroid 17-alpha-monooxygenase | 2 | Jan 23, 2017 |
| Developmental and epileptic encephalopathy, 19 | 1 | Jan 23, 2017 |
| Developmental and epileptic encephalopathy, 26 | 2 | Jan 23, 2017 |
| Diastrophic dysplasia | 1 | Jan 23, 2017 |
| Dilated cardiomyopathy 1BB | 1 | Jan 23, 2017 |
| Dilated cardiomyopathy 1CC | 2 | Jan 23, 2017 |
| Dilated cardiomyopathy 1DD | 2 | Jan 23, 2017 |
| Dilated cardiomyopathy 1EE | 1 | Jan 23, 2017 |
| Dilated cardiomyopathy 1FF | 1 | Jan 23, 2017 |
| Dilated cardiomyopathy 1G | 4 | Jan 23, 2017 |
| Dilated cardiomyopathy 1KK | 2 | Jan 23, 2017 |
| Dilated cardiomyopathy 1L | 1 | Jun 26, 2015 |
| Dilated cardiomyopathy 1S | 1 | Jan 23, 2017 |
| Dilated cardiomyopathy 1T | 1 | Jan 23, 2017 |
| Dilated cardiomyopathy 1W | 2 | Jan 23, 2017 |
| Dilated cardiomyopathy 2A | 1 | Jan 23, 2017 |
| Distal myopathy, Tateyama type | 1 | Jan 23, 2017 |
| Dominant beta-thalassemia | 1 | Jan 23, 2017 |
| Dyskeratosis congenita, autosomal dominant 3 | 1 | Jan 23, 2017 |
| Dystonia 27 | 1 | Jan 23, 2017 |
| Early-onset myopathy with fatal cardiomyopathy | 4 | Jan 23, 2017 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 | Jan 23, 2017 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jan 23, 2017 |
| Eichsfeld type congenital muscular dystrophy | 1 | Jun 26, 2015 |
| Elevated circulating creatine kinase concentration | 1 | Jan 23, 2017 |
| Epidermolysis bullosa simplex 5B, with muscular dystrophy | 1 | Jan 23, 2017 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 | Jan 23, 2017 |
| Epidermolysis bullosa simplex with nail dystrophy | 1 | Jan 23, 2017 |
| Epidermolysis bullosa simplex, Ogna type | 1 | Jan 23, 2017 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 | Jan 23, 2017 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Jan 23, 2017 |
| Familial acute necrotizing encephalopathy | 1 | Jan 23, 2017 |
| Familial adenomatous polyposis 1 | 1 | Jan 23, 2017 |
| Familial adenomatous polyposis 2 | 2 | Jan 23, 2017 |
| Familial hemophagocytic lymphohistiocytosis 4 | 1 | Jun 26, 2015 |
| Familial hemophagocytic lymphohistiocytosis 5 | 1 | Jan 23, 2017 |
| Familial hypokalemia-hypomagnesemia | 2 | Jan 23, 2017 |
| Familial infantile myasthenia | 1 | Jan 23, 2017 |
| Fanconi anemia complementation group C | 1 | Jan 23, 2017 |
| Fanconi anemia complementation group O | 1 | Jan 23, 2017 |
| Fetal akinesia deformation sequence 1 | 1 | Jan 23, 2017 |
| Fetal hemoglobin quantitative trait locus 1 | 1 | Jan 23, 2017 |
| Finnish congenital nephrotic syndrome | 1 | Jan 23, 2017 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 | Jan 23, 2017 |
| GM1 gangliosidosis type 2 | 1 | Jan 23, 2017 |
| GM1 gangliosidosis type 3 | 1 | Jan 23, 2017 |
| GNE myopathy | 2 | Jan 23, 2017 |
| Gaucher disease type I | 1 | Jun 26, 2015 |
| Glanzmann thrombasthenia | 2 | Jan 23, 2017 |
| Glaucoma 3A | 1 | Jan 23, 2017 |
| Glycine encephalopathy | 1 | Jan 23, 2017 |
| Glycogen storage disease type III | 3 | Jan 23, 2017 |
| Glycogen storage disease, type V | 2 | Jan 23, 2017 |
| Gray platelet syndrome | 1 | Jan 23, 2017 |
| Griscelli syndrome type 2 | 1 | Jan 23, 2017 |
| HSD10 mitochondrial disease | 1 | Jun 26, 2015 |
| Hb SS disease | 1 | Jan 23, 2017 |
| Hearing loss, X-linked 4 | 1 | Jan 23, 2017 |
| Heimler syndrome 1 | 1 | Jan 23, 2017 |
| Heinz body anemia | 1 | Jan 23, 2017 |
| Hereditary fructosuria | 1 | Jan 23, 2017 |
| Hereditary spastic paraplegia 11 | 1 | Jun 26, 2015 |
| Hereditary spastic paraplegia 52 | 1 | Jan 23, 2017 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2 | Jan 23, 2017 |
| Holoprosencephaly 5 | 1 | Jun 26, 2015 |
| Hurler syndrome | 2 | Jan 23, 2017 |
| Hypercalcemia, infantile, 1 | 1 | Jun 26, 2015 |
| Hypercholesterolemia, familial, 1 | 2 | Jan 23, 2017 |
| Hypertrophic cardiomyopathy 1 | 3 | Jan 23, 2017 |
| Hypertrophic cardiomyopathy 14 | 1 | Jan 23, 2017 |
| Hypertrophic cardiomyopathy 15 | 2 | Jan 23, 2017 |
| Hypertrophic cardiomyopathy 20 | 2 | Jan 23, 2017 |
| Hypertrophic cardiomyopathy 4 | 1 | Jan 23, 2017 |
| Hypertrophic cardiomyopathy 7 | 1 | Jan 23, 2017 |
| Hypertrophic cardiomyopathy 9 | 4 | Jan 23, 2017 |
| Ichthyosis vulgaris | 2 | Jan 23, 2017 |
| Ichthyosis, hystrix-like, with hearing loss | 2 | Jan 23, 2017 |
| Immunodeficiency, common variable, 2 | 1 | Jun 26, 2015 |
| Immunoglobulin A deficiency 2 | 1 | Jun 26, 2015 |
| Infantile GM1 gangliosidosis | 1 | Jan 23, 2017 |
| Intellectual disability and seizures | 1 | Jun 26, 2015 |
| Intellectual disability, autosomal dominant 13 | 1 | Jan 23, 2017 |
| Interstitial lung disease due to ABCA3 deficiency | 1 | Jun 26, 2015 |
| Intervertebral disc disorder | 1 | Jan 23, 2017 |
| Iodotyrosyl coupling defect | 1 | Jun 26, 2015 |
| Irido-corneo-trabecular dysgenesis | 1 | Jan 23, 2017 |
| Keratosis palmoplantaris striata 2 | 1 | Jan 23, 2017 |
| Knuckle pads, deafness AND leukonychia syndrome | 2 | Jan 23, 2017 |
| Leber congenital amaurosis 13 | 2 | Jan 23, 2017 |
| Left ventricular noncompaction 10 | 1 | Jan 23, 2017 |
| Lethal acantholytic epidermolysis bullosa | 1 | Jan 23, 2017 |
| Leukocyte adhesion deficiency 3 | 1 | Jan 23, 2017 |
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | 1 | Jun 26, 2015 |
| Long QT syndrome 1 | 2 | Jan 23, 2017 |
| Long QT syndrome 11 | 4 | Jan 23, 2017 |
| Long QT syndrome 12 | 1 | Jun 26, 2015 |
| Long QT syndrome 2 | 1 | Jan 23, 2017 |
| Long QT syndrome 3 | 4 | Jan 23, 2017 |
| Long QT syndrome 5 | 1 | Jun 26, 2015 |
| Long QT syndrome 9 | 1 | Jan 23, 2017 |
| Lysosomal acid lipase deficiency | 1 | Jun 26, 2015 |
| MYH7-related skeletal myopathy | 1 | Jan 23, 2017 |
| Macular degeneration, age-related, 3 | 1 | Jan 23, 2017 |
| Malaria, susceptibility to | 6 | Jan 23, 2017 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Jun 26, 2015 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Jun 26, 2015 |
| McCune-Albright syndrome | 2 | Jan 23, 2017 |
| Metachromatic leukodystrophy | 1 | Jan 23, 2017 |
| Methylmalonic aciduria, cblA type | 1 | Jun 26, 2015 |
| Microcephaly 15, primary, autosomal recessive | 1 | Jan 23, 2017 |
| Microcephaly 6, primary, autosomal recessive | 1 | Jan 23, 2017 |
| Microcephaly, seizures, and developmental delay | 1 | Jun 26, 2015 |
| Microtia | 1 | Jan 23, 2017 |
| Mismatch repair cancer syndrome 1 | 1 | Jan 23, 2017 |
| Mitochondrial complex I deficiency | 2 | Jan 23, 2017 |
| Mucopolysaccharidosis, MPS-I-H/S | 2 | Jan 23, 2017 |
| Mucopolysaccharidosis, MPS-I-S | 2 | Jan 23, 2017 |
| Mucopolysaccharidosis, MPS-IV-B | 1 | Jan 23, 2017 |
| Muir-Torré syndrome | 1 | Jan 23, 2017 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 1 | Jan 23, 2017 |
| Multiple epiphyseal dysplasia type 4 | 1 | Jan 23, 2017 |
| Mutilating keratoderma | 2 | Jan 23, 2017 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 4 | Jan 23, 2017 |
| Myopathy, myosin storage, autosomal recessive | 1 | Jan 23, 2017 |
| Myosclerosis | 1 | Jan 23, 2017 |
| Myosin storage myopathy | 1 | Jan 23, 2017 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 | Jan 23, 2017 |
| Neoplasm of stomach | 2 | Jan 23, 2017 |
| Neurodegeneration with brain iron accumulation 5 | 1 | Jan 23, 2017 |
| Niemann-Pick disease, type C1 | 2 | Jan 23, 2017 |
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | 1 | Jan 23, 2017 |
| Odonto-onycho-dermal dysplasia | 2 | Jan 23, 2017 |
| Otofaciocervical syndrome 1 | 1 | Jan 23, 2017 |
| PMM2-congenital disorder of glycosylation | 1 | Jan 23, 2017 |
| Paget disease of bone 3 | 1 | Jan 23, 2017 |
| Palmoplantar keratoderma-deafness syndrome | 2 | Jan 23, 2017 |
| Paroxysmal nocturnal hemoglobinuria 2 | 1 | Jan 23, 2017 |
| Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 1 | Jan 23, 2017 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 3 | Jan 23, 2017 |
| Peroxisome biogenesis disorder 1B | 2 | Jan 23, 2017 |
| Peroxisome biogenesis disorder 9B | 1 | Jan 23, 2017 |
| Perrault syndrome 1 | 1 | Jan 23, 2017 |
| Phelan-McDermid syndrome | 2 | Jun 26, 2015 |
| Phenylketonuria | 5 | Jan 23, 2017 |
| Platelet-type bleeding disorder 10 | 3 | Jan 23, 2017 |
| Platelet-type bleeding disorder 16 | 2 | Jan 23, 2017 |
| Platelet-type bleeding disorder 17 | 1 | Jan 23, 2017 |
| Platelet-type bleeding disorder 18 | 2 | Jan 23, 2017 |
| Pontocerebellar hypoplasia type 1B | 1 | Jan 23, 2017 |
| Primary ciliary dyskinesia 3 | 2 | Jan 23, 2017 |
| Progressive familial heart block type IB | 2 | Jan 23, 2017 |
| Progressive familial intrahepatic cholestasis type 2 | 1 | Jan 23, 2017 |
| Progressive osseous heteroplasia | 2 | Jan 23, 2017 |
| Progressive sclerosing poliodystrophy | 3 | Jan 23, 2017 |
| Pseudo von Willebrand disease | 1 | Jan 23, 2017 |
| Pseudohypoparathyroidism | 2 | Jan 23, 2017 |
| Pseudohypoparathyroidism type 1B | 2 | Jan 23, 2017 |
| Pseudohypoparathyroidism type 1C | 2 | Jan 23, 2017 |
| Pseudopseudohypoparathyroidism | 2 | Jan 23, 2017 |
| Pulmonary hypertension, neonatal, susceptibility to | 1 | Jan 23, 2017 |
| Rafiq syndrome | 1 | Jun 26, 2015 |
| Retinitis pigmentosa 37 | 1 | Jun 26, 2015 |
| Revesz syndrome | 1 | Jan 23, 2017 |
| Rhizomelic chondrodysplasia punctata type 1 | 1 | Jan 23, 2017 |
| Rippling muscle disease 2 | 1 | Jan 23, 2017 |
| SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 1 | Jan 23, 2017 |
| Salla disease | 1 | Jun 26, 2015 |
| Schöpf-Schulz-Passarge syndrome | 2 | Jan 23, 2017 |
| Seckel syndrome 4 | 1 | Jan 23, 2017 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Jan 23, 2017 |
| Short QT syndrome type 1 | 1 | Jan 23, 2017 |
| Sialic acid storage disease, severe infantile type | 1 | Jun 26, 2015 |
| Sialuria | 1 | Jan 23, 2017 |
| Sick sinus syndrome 3, susceptibility to | 1 | Jan 23, 2017 |
| Sifrim-Hitz-Weiss syndrome | 1 | Jan 23, 2017 |
| Sinoatrial node dysfunction and deafness | 1 | Jan 23, 2017 |
| Smith-Lemli-Opitz syndrome | 3 | Jan 23, 2017 |
| Somatotroph adenoma | 2 | Jan 23, 2017 |
| Spongy degeneration of central nervous system | 1 | Jan 23, 2017 |
| Stickler syndrome, type 5 | 1 | Jan 23, 2017 |
| Sucrase-isomaltase deficiency | 2 | Jan 23, 2017 |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 | Jan 23, 2017 |
| Tay-Sachs disease | 1 | Jan 23, 2017 |
| Tibial muscular dystrophy | 4 | Jan 23, 2017 |
| Tobacco addiction, susceptibility to | 2 | Jan 23, 2017 |
| Tooth agenesis, selective, 4 | 2 | Jan 23, 2017 |
| Transient bullous dermolysis of the newborn | 1 | Jan 23, 2017 |
| Tyrosinase-positive oculocutaneous albinism | 1 | Jan 23, 2017 |
| Ullrich congenital muscular dystrophy 1A | 2 | Jan 23, 2017 |
| Usher syndrome type 1D | 3 | Jan 23, 2017 |
| Usher syndrome type 1F | 3 | Jan 23, 2017 |
| Usher syndrome type 2A | 3 | Jan 23, 2017 |
| Usher syndrome type 2C | 1 | Jan 23, 2017 |
| Usher syndrome type 2D | 3 | Jan 23, 2017 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jan 23, 2017 |
| Wilson disease | 1 | Jan 23, 2017 |
| Woolly hair-skin fragility syndrome | 1 | Jan 23, 2017 |
| X-linked dystonia-parkinsonism | 1 | Jan 23, 2017 |
| beta Thalassemia | 1 | Jan 23, 2017 |
| von Willebrand disease type 1 | 2 | Jan 23, 2017 |
| von Willebrand disease type 2 | 2 | Jan 23, 2017 |
| von Willebrand disease type 3 | 2 | Jan 23, 2017 |
