| 3M syndrome 2 | 1 | Apr 14, 2016 |
| 3MC syndrome 1 | 1 | Apr 14, 2016 |
| Achondrogenesis, type IA | 1 | Apr 14, 2016 |
| Acne inversa, familial, 1 | 1 | Apr 14, 2016 |
| Acute lymphoid leukemia | 1 | Apr 14, 2016 |
| Aicardi-Goutieres syndrome 1 | 2 | Apr 14, 2016 |
| Aicardi-Goutieres syndrome 2 | 1 | Apr 14, 2016 |
| Alagille syndrome due to a JAG1 point mutation | 1 | Apr 14, 2016 |
| Alexander disease | 2 | Apr 14, 2016 |
| Alstrom syndrome | 1 | Apr 14, 2016 |
| Amyotrophic lateral sclerosis type 2, juvenile | 1 | Apr 14, 2016 |
| Anhaptoglobinemia | 1 | Apr 14, 2016 |
| Arrhythmogenic right ventricular dysplasia 13 | 1 | Apr 14, 2016 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Apr 14, 2016 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Apr 14, 2016 |
| Asphyxiating thoracic dystrophy 3 | 1 | Apr 14, 2016 |
| Atrial fibrillation, familial, 14 | 1 | Apr 14, 2016 |
| Atrial fibrillation, familial, 4 | 1 | Apr 14, 2016 |
| Atrial septal defect 2 | 1 | Apr 14, 2016 |
| Atrioventricular septal defect 4 | 1 | Apr 14, 2016 |
| Autosomal dominant Alport syndrome | 1 | Apr 14, 2016 |
| Autosomal dominant auditory neuropathy 1 | 1 | Apr 14, 2016 |
| Autosomal dominant nonsyndromic hearing loss 12 | 1 | Apr 14, 2016 |
| Autosomal dominant nonsyndromic hearing loss 13 | 1 | Apr 14, 2016 |
| Autosomal dominant nonsyndromic hearing loss 25 | 1 | Apr 14, 2016 |
| Autosomal dominant nonsyndromic hearing loss 3A | 3 | Apr 14, 2016 |
| Autosomal dominant nonsyndromic hearing loss 3B | 1 | Apr 14, 2016 |
| Autosomal dominant nonsyndromic hearing loss 5 | 1 | Apr 14, 2016 |
| Autosomal dominant nonsyndromic hearing loss 6 | 2 | Apr 14, 2016 |
| Autosomal recessive Alport syndrome | 2 | Apr 14, 2016 |
| Autosomal recessive Kenny-Caffey syndrome | 1 | Apr 14, 2016 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Apr 14, 2016 |
| Autosomal recessive bestrophinopathy | 1 | Apr 14, 2016 |
| Autosomal recessive congenital ichthyosis 1 | 1 | Apr 14, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 | Apr 14, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Apr 14, 2016 |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 1A | 3 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 1B | 1 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 28 | 1 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 30 | 1 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 35 | 1 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 4 | 2 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 53 | 1 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Apr 14, 2016 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | Apr 14, 2016 |
| Autosomal recessive spinocerebellar ataxia 12 | 1 | Apr 14, 2016 |
| Baller-Gerold syndrome | 1 | Apr 14, 2016 |
| Bardet-Biedl syndrome | 1 | Apr 14, 2016 |
| Bardet-Biedl syndrome 1 | 1 | Apr 14, 2016 |
| Bardet-Biedl syndrome 4 | 1 | Apr 14, 2016 |
| Bartter disease type 2 | 1 | Apr 14, 2016 |
| Bartter disease type 4A | 1 | Apr 14, 2016 |
| Beaded hair | 1 | Apr 14, 2016 |
| Becker muscular dystrophy | 2 | Apr 14, 2016 |
| Benign familial hematuria | 1 | Apr 14, 2016 |
| Bietti crystalline corneoretinal dystrophy | 1 | Apr 14, 2016 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Apr 14, 2016 |
| Biotinidase deficiency | 1 | Apr 14, 2016 |
| Blood group, I system | 1 | Apr 14, 2016 |
| Bone fragility with contractures, arterial rupture, and deafness | 1 | Apr 14, 2016 |
| Bone mineral density quantitative trait locus 1 | 1 | Apr 14, 2016 |
| Branchiootorenal syndrome 1 | 2 | Apr 14, 2016 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2 | Apr 14, 2016 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 4 | Apr 14, 2016 |
| Bronchiectasis with or without elevated sweat chloride 1 | 1 | Apr 14, 2016 |
| Brugada syndrome 6 | 1 | Apr 14, 2016 |
| C syndrome | 1 | Apr 14, 2016 |
| COACH syndrome 1 | 1 | Apr 14, 2016 |
| COG5-congenital disorder of glycosylation | 1 | Apr 14, 2016 |
| Candidiasis, familial, 6 | 1 | Apr 14, 2016 |
| Carney complex - trismus - pseudocamptodactyly syndrome | 1 | Apr 14, 2016 |
| Cataract 10 multiple types | 1 | Apr 14, 2016 |
| Cataract 13 with adult I phenotype | 1 | Apr 14, 2016 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Apr 14, 2016 |
| Catecholaminergic polymorphic ventricular tachycardia 5 | 1 | Apr 14, 2016 |
| Cerebrooculofacioskeletal syndrome 4 | 1 | Apr 14, 2016 |
| Cholestanol storage disease | 2 | Apr 14, 2016 |
| Citrullinemia type I | 1 | Apr 14, 2016 |
| Citrullinemia type II | 2 | Apr 14, 2016 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 | Apr 14, 2016 |
| Classic homocystinuria | 1 | Apr 14, 2016 |
| Cobalamin C disease | 1 | Apr 14, 2016 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 2 | Apr 14, 2016 |
| Combined oxidative phosphorylation defect type 17 | 1 | Apr 14, 2016 |
| Complement component 7 deficiency | 1 | Apr 14, 2016 |
| Complement factor b deficiency | 2 | Apr 14, 2016 |
| Cone dystrophy with supernormal rod response | 1 | Apr 14, 2016 |
| Cone-rod dystrophy 13 | 1 | Apr 14, 2016 |
| Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 1 | Apr 14, 2016 |
| Congenital adrenal hypoplasia, X-linked | 1 | Apr 14, 2016 |
| Congenital contractural arachnodactyly | 1 | Apr 14, 2016 |
| Congenital dyserythropoietic anemia, type II | 1 | Apr 14, 2016 |
| Congenital hereditary endothelial dystrophy of cornea | 1 | Apr 14, 2016 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Apr 14, 2016 |
| Congenital lipoid adrenal hyperplasia due to STAR deficency | 1 | Apr 14, 2016 |
| Congenital nongoitrous hypothyroidism 6 | 1 | Apr 14, 2016 |
| Congenital stationary night blindness 1B | 1 | Apr 14, 2016 |
| Congenital stationary night blindness 1C | 2 | Apr 14, 2016 |
| Corneal dystrophy, lattice type 3A | 1 | Apr 14, 2016 |
| Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 1 | Apr 14, 2016 |
| Cystathioninuria | 1 | Apr 14, 2016 |
| Cystic fibrosis | 3 | Apr 14, 2016 |
| Cystinuria | 2 | Apr 14, 2016 |
| Dalmatian hypouricemia | 1 | Apr 14, 2016 |
| Deficiency of beta-ureidopropionase | 1 | Apr 14, 2016 |
| Deficiency of butyrylcholinesterase | 2 | Apr 14, 2016 |
| Deficiency of guanidinoacetate methyltransferase | 1 | Apr 14, 2016 |
| Deficiency of iodide peroxidase | 1 | Apr 14, 2016 |
| Diamond-Blackfan anemia 9 | 1 | Apr 14, 2016 |
| Dilated cardiomyopathy 1G | 1 | Apr 14, 2016 |
| Dilated cardiomyopathy 1KK | 1 | Apr 14, 2016 |
| Dilated cardiomyopathy 1T | 2 | Apr 14, 2016 |
| Dimethylglycine dehydrogenase deficiency | 1 | Apr 14, 2016 |
| Donnai-Barrow syndrome | 2 | Apr 14, 2016 |
| Dyskeratosis congenita, autosomal recessive 3 | 1 | Apr 14, 2016 |
| Dystonia 16 | 1 | Apr 14, 2016 |
| Epidermolysis bullosa simplex 1C, localized | 1 | Apr 14, 2016 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Apr 14, 2016 |
| Episodic pain syndrome, familial, 2 | 1 | Apr 14, 2016 |
| Exudative vitreoretinopathy 4 | 1 | Apr 14, 2016 |
| Factor XII deficiency disease | 1 | Apr 14, 2016 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Apr 14, 2016 |
| Familial adenomatous polyposis 2 | 4 | Apr 14, 2016 |
| Familial hemophagocytic lymphohistiocytosis 3 | 2 | Apr 14, 2016 |
| Familial hypokalemia-hypomagnesemia | 4 | Apr 14, 2016 |
| Fanconi anemia complementation group I | 1 | Apr 14, 2016 |
| Fasting plasma glucose level quantitative trait locus 5 | 2 | Apr 14, 2016 |
| Finnish congenital nephrotic syndrome | 3 | Apr 14, 2016 |
| Fleck corneal dystrophy | 1 | Apr 14, 2016 |
| Floating-Harbor syndrome | 1 | Apr 14, 2016 |
| Frontotemporal dementia | 1 | Apr 14, 2016 |
| Fucosyltransferase 6 deficiency | 2 | Apr 14, 2016 |
| GNE myopathy | 1 | Apr 14, 2016 |
| Galactosylceramide beta-galactosidase deficiency | 2 | Apr 14, 2016 |
| Geleophysic dysplasia 1 | 1 | Apr 14, 2016 |
| Generalized dominant dystrophic epidermolysis bullosa | 3 | Apr 14, 2016 |
| Generalized epilepsy with febrile seizures plus, type 7 | 1 | Apr 14, 2016 |
| Generalized pustular psoriasis | 1 | Apr 14, 2016 |
| Geroderma osteodysplastica | 1 | Apr 14, 2016 |
| Glanzmann thrombasthenia | 2 | Apr 14, 2016 |
| Glaucoma 3A | 3 | Apr 14, 2016 |
| Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 1 | Apr 14, 2016 |
| Glycogen storage disease type X | 1 | Apr 14, 2016 |
| Glycogen storage disease, type VI | 1 | Apr 14, 2016 |
| Gorlin syndrome | 1 | Apr 14, 2016 |
| Groenouw corneal dystrophy type I | 1 | Apr 14, 2016 |
| Hecht syndrome | 1 | Apr 14, 2016 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Apr 14, 2016 |
| Hereditary diffuse leukoencephalopathy with spheroids | 1 | Apr 14, 2016 |
| Hereditary factor IX deficiency disease | 1 | Apr 14, 2016 |
| Hereditary factor VIII deficiency disease | 2 | Apr 14, 2016 |
| Hereditary spastic paraplegia 11 | 1 | Apr 14, 2016 |
| Hereditary spastic paraplegia 5A | 1 | Apr 14, 2016 |
| Hereditary spherocytosis type 2 | 1 | Apr 14, 2016 |
| Hereditary spherocytosis type 5 | 1 | Apr 14, 2016 |
| Heterotopia, periventricular, X-linked dominant | 1 | Apr 14, 2016 |
| High molecular weight kininogen deficiency | 1 | Apr 14, 2016 |
| Hirschsprung disease, susceptibility to, 1 | 2 | Apr 14, 2016 |
| Hirschsprung disease, susceptibility to, 2 | 1 | Apr 14, 2016 |
| Hirschsprung disease, susceptibility to, 4 | 1 | Apr 14, 2016 |
| Hypercholesterolemia, familial, 1 | 2 | Apr 14, 2016 |
| Hyperekplexia 1 | 1 | Apr 14, 2016 |
| Hyperinsulinism-hyperammonemia syndrome | 1 | Apr 14, 2016 |
| Hyperthyroxinemia, familial dysalbuminemic | 1 | Apr 14, 2016 |
| Hypertrophic cardiomyopathy 1 | 1 | Apr 14, 2016 |
| Hypertrophic cardiomyopathy 16 | 1 | Apr 14, 2016 |
| Hypertrophic cardiomyopathy 20 | 1 | Apr 14, 2016 |
| Hypertrophic cardiomyopathy 4 | 1 | Apr 14, 2016 |
| Hypertrophic cardiomyopathy 9 | 1 | Apr 14, 2016 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 3 | Apr 14, 2016 |
| Hypogonadotropic hypogonadism 1 with or without anosmia | 1 | Apr 14, 2016 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Apr 14, 2016 |
| Hypoparathyroidism-retardation-dysmorphism syndrome | 1 | Apr 14, 2016 |
| Hypothyroidism due to TSH receptor mutations | 2 | Apr 14, 2016 |
| Hypotrichosis 7 | 1 | Apr 14, 2016 |
| Ichthyosis vulgaris | 5 | Apr 14, 2016 |
| Imerslund-Grasbeck syndrome | 1 | Apr 14, 2016 |
| Immunodeficiency 35 | 1 | Apr 14, 2016 |
| Inherited Creutzfeldt-Jakob disease | 1 | Apr 14, 2016 |
| Inherited glutathione synthetase deficiency | 1 | Apr 14, 2016 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Apr 14, 2016 |
| Intellectual disability, autosomal recessive 46 | 1 | Apr 14, 2016 |
| Iodotyrosyl coupling defect | 1 | Apr 14, 2016 |
| Joubert syndrome 14 | 1 | Apr 14, 2016 |
| Joubert syndrome 6 | 1 | Apr 14, 2016 |
| Joubert syndrome with renal defect | 1 | Apr 14, 2016 |
| Junctional epidermolysis bullosa with pyloric atresia | 2 | Apr 14, 2016 |
| Junctional epidermolysis bullosa, non-Herlitz type | 2 | Apr 14, 2016 |
| Leber congenital amaurosis 10 | 1 | Apr 14, 2016 |
| Leber congenital amaurosis 8 | 1 | Apr 14, 2016 |
| Li-Fraumeni syndrome 1 | 1 | Apr 14, 2016 |
| Long QT syndrome 13 | 1 | Apr 14, 2016 |
| Long QT syndrome 6 | 1 | Apr 14, 2016 |
| Lynch syndrome 1 | 2 | Apr 14, 2016 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Apr 14, 2016 |
| Malignant tumor of prostate | 1 | Apr 14, 2016 |
| Maple syrup urine disease | 1 | Apr 14, 2016 |
| Marfan syndrome | 2 | Apr 14, 2016 |
| Megalencephalic leukoencephalopathy with subcortical cysts 1 | 1 | Apr 14, 2016 |
| Meier-Gorlin syndrome 2 | 1 | Apr 14, 2016 |
| Melanoma, cutaneous malignant, susceptibility to, 5 | 1 | Apr 14, 2016 |
| Methylmalonic acidemia due to transcobalamin receptor defect | 1 | Apr 14, 2016 |
| Microcephaly 5, primary, autosomal recessive | 1 | Apr 14, 2016 |
| Microcephaly 6, primary, autosomal recessive | 1 | Apr 14, 2016 |
| Microphthalmia with brain and digit anomalies | 1 | Apr 14, 2016 |
| Migraine, with or without aura, susceptibility to, 13 | 1 | Apr 14, 2016 |
| Mitochondrial DNA depletion syndrome 4b | 1 | Apr 14, 2016 |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 1 | Apr 14, 2016 |
| Mitochondrial DNA depletion syndrome, myopathic form | 1 | Apr 14, 2016 |
| Mitochondrial complex I deficiency | 1 | Apr 14, 2016 |
| Mitochondrial trifunctional protein deficiency | 2 | Apr 14, 2016 |
| Mowat-Wilson syndrome | 1 | Apr 14, 2016 |
| Mucopolysaccharidosis type 7 | 1 | Apr 14, 2016 |
| Mucopolysaccharidosis, MPS-III-B | 1 | Apr 14, 2016 |
| Multiple sulfatase deficiency | 1 | Apr 14, 2016 |
| Muscle AMP deaminase deficiency | 1 | Apr 14, 2016 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 | Apr 14, 2016 |
| Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 | Apr 14, 2016 |
| Myofibrillar myopathy 6 | 1 | Apr 14, 2016 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Apr 14, 2016 |
| Nephronophthisis 1 | 1 | Apr 14, 2016 |
| Nephronophthisis 4 | 1 | Apr 14, 2016 |
| Nephrotic syndrome, type 2 | 1 | Apr 14, 2016 |
| Neuroblastoma | 1 | Apr 14, 2016 |
| Neuronal ceroid lipofuscinosis 1 | 1 | Apr 14, 2016 |
| Nijmegen breakage syndrome-like disorder | 1 | Apr 14, 2016 |
| Non-ketotic hyperglycinemia | 1 | Apr 14, 2016 |
| Normophosphatemic familial tumoral calcinosis | 2 | Apr 14, 2016 |
| Occult macular dystrophy | 3 | Apr 14, 2016 |
| Odonto-onycho-dermal dysplasia | 2 | Apr 14, 2016 |
| Olmsted syndrome 1 | 1 | Apr 14, 2016 |
| Orofacial cleft 5 | 1 | Apr 14, 2016 |
| Osteogenesis imperfecta type I | 1 | Apr 14, 2016 |
| PMM2-congenital disorder of glycosylation | 1 | Apr 14, 2016 |
| Palmoplantar keratoderma, epidermolytic | 1 | Apr 14, 2016 |
| Parkinsonian-pyramidal syndrome | 1 | Apr 14, 2016 |
| Pendred syndrome | 2 | Apr 14, 2016 |
| Peripheral arterial occlusive disease 1 | 1 | Apr 14, 2016 |
| Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Apr 14, 2016 |
| Peroxisome biogenesis disorder 9B | 1 | Apr 14, 2016 |
| Perrault syndrome 1 | 1 | Apr 14, 2016 |
| Perrault syndrome 2 | 1 | Apr 14, 2016 |
| Phenylketonuria | 3 | Apr 14, 2016 |
| Pick disease | 1 | Apr 14, 2016 |
| Pigmentary pallidal degeneration | 1 | Apr 14, 2016 |
| Pigmented nodular adrenocortical disease, primary, 2 | 4 | Apr 14, 2016 |
| Plasminogen deficiency, type I | 1 | Apr 14, 2016 |
| Platelet-activating factor acetylhydrolase deficiency | 1 | Apr 14, 2016 |
| Platelet-type bleeding disorder 10 | 2 | Apr 14, 2016 |
| Platelet-type bleeding disorder 16 | 1 | Apr 14, 2016 |
| Polycystic kidney disease, adult type | 1 | Apr 14, 2016 |
| Pontocerebellar hypoplasia type 6 | 1 | Apr 14, 2016 |
| Preeclampsia/eclampsia 5 | 1 | Apr 14, 2016 |
| Prekallikrein deficiency | 1 | Apr 14, 2016 |
| Primary ciliary dyskinesia 3 | 1 | Apr 14, 2016 |
| Primary erythromelalgia | 2 | Apr 14, 2016 |
| Primary open angle glaucoma | 1 | Apr 14, 2016 |
| Progressive familial heart block type IB | 1 | Apr 14, 2016 |
| Progressive sclerosing poliodystrophy | 1 | Apr 14, 2016 |
| Progressive supranuclear ophthalmoplegia | 1 | Apr 14, 2016 |
| Proline dehydrogenase deficiency | 1 | Apr 14, 2016 |
| Propionic acidemia | 3 | Apr 14, 2016 |
| Prostate cancer, hereditary, 2 | 1 | Apr 14, 2016 |
| Pulmonary hypertension, primary, 1 | 1 | Apr 14, 2016 |
| Pyruvate kinase deficiency of red cells | 1 | Apr 14, 2016 |
| Rapadilino syndrome | 1 | Apr 14, 2016 |
| Recessive dystrophic epidermolysis bullosa | 3 | Apr 14, 2016 |
| Renal tubular acidosis with progressive nerve deafness | 1 | Apr 14, 2016 |
| Retinitis pigmentosa 1 | 1 | Apr 14, 2016 |
| Retinitis pigmentosa 40 | 1 | Apr 14, 2016 |
| Retinitis pigmentosa 48 | 1 | Apr 14, 2016 |
| Retinitis pigmentosa 49 | 4 | Apr 14, 2016 |
| Rh-null, regulator type | 1 | Apr 14, 2016 |
| Rhizomelic chondrodysplasia punctata type 1 | 1 | Apr 14, 2016 |
| Rothmund-Thomson syndrome | 1 | Apr 14, 2016 |
| SUDDEN INFANT DEATH SYNDROME | 1 | Apr 14, 2016 |
| Saldino-Mainzer syndrome | 1 | Apr 14, 2016 |
| Schizophrenia 4 | 1 | Apr 14, 2016 |
| Seckel syndrome 5 | 1 | Apr 14, 2016 |
| Seckel syndrome 6 | 1 | Apr 14, 2016 |
| Seizures, benign familial neonatal, 1 | 1 | Apr 14, 2016 |
| Senior-Loken syndrome 1 | 1 | Apr 14, 2016 |
| Senior-Loken syndrome 4 | 1 | Apr 14, 2016 |
| Severe early-childhood-onset retinal dystrophy | 1 | Apr 14, 2016 |
| Severe myoclonic epilepsy in infancy | 1 | Apr 14, 2016 |
| Short stature due to partial GHR deficiency | 1 | Apr 14, 2016 |
| Smith-Lemli-Opitz syndrome | 1 | Apr 14, 2016 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Apr 14, 2016 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 2 | Apr 14, 2016 |
| Thyroglobulin synthesis defect | 1 | Apr 14, 2016 |
| Thyroid cancer, nonmedullary, 1 | 1 | Apr 14, 2016 |
| Thyroid dyshormonogenesis 6 | 2 | Apr 14, 2016 |
| Thyroxine-binding globulin deficiency | 1 | Apr 14, 2016 |
| Tooth agenesis, selective, 1 | 1 | Apr 14, 2016 |
| Tooth agenesis, selective, 4 | 2 | Apr 14, 2016 |
| Torsion dystonia 6 | 1 | Apr 14, 2016 |
| Treacher Collins syndrome 1 | 1 | Apr 14, 2016 |
| Treacher Collins syndrome 3 | 1 | Apr 14, 2016 |
| Trimethylaminuria | 2 | Apr 14, 2016 |
| Tuberous sclerosis 1 | 1 | Apr 14, 2016 |
| Type 2 diabetes mellitus | 3 | Apr 14, 2016 |
| UDPglucose-4-epimerase deficiency | 1 | Apr 14, 2016 |
| Upshaw-Schulman syndrome | 1 | Apr 14, 2016 |
| Usher syndrome type 2A | 5 | Apr 14, 2016 |
| Usher syndrome type 2C | 1 | Apr 14, 2016 |
| Ventricular septal defect 1 | 1 | Apr 14, 2016 |
| Vesicoureteral reflux 2 | 1 | Apr 14, 2016 |
| Vitamin b12 plasma level quantitative trait locus 1 | 1 | Apr 14, 2016 |
| Wilson disease | 4 | Apr 14, 2016 |
| Winchester syndrome | 1 | Apr 14, 2016 |
| Wolff-Parkinson-White pattern | 1 | Apr 14, 2016 |
| Wolfram syndrome 1 | 1 | Apr 14, 2016 |
| X-linked Alport syndrome | 1 | Apr 14, 2016 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Apr 14, 2016 |
| Xeroderma pigmentosum variant type | 2 | Apr 14, 2016 |
