Disease Summary help help Associated Targets (13494)Tbio9103Tdark2061Tchem1688Tclin642 Explore Associated Targets list Mondo Description A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. Disease Ontology Description A disease that has_material_basis_in genetic variations in the human genome. Mondo Term and Equivalent IDs MONDO:0003847: Mendelian disease DOID:630: genetic diseaseopen_in_newEFO:0000508: open_in_newMESH:D030342: open_in_newNCIT:C3101: open_in_newSCTID:32895009: open_in_newUMLS:C0019247: open_in_new
Disease Hierarchy help helpParentsdisease or disorder (0)Childrengenetic skin disease (7683)Tbio5141Tdark1158Tchem1016Tclin368genetic nervous system disorder (6208)Tbio4419Tchem829Tdark591Tclin369inflammatory bowel disease (3626)Tbio2478Tchem566Tdark380Tclin202autosomal genetic disease (3091)Tbio2236Tchem450Tdark227Tclin178inborn errors of metabolism (2213)Tbio1484Tchem415Tclin211Tdark103hereditary connective tissue disorder (1660)Tbio1181Tchem268Tclin140Tdark71familial cardiomyopathy (1057)Tbio755Tchem174Tclin74Tdark54genetic otorhinolaryngologic disease (981)Tbio698Tchem114Tdark105Tclin64chromosomal anomaly (824)Tbio611Tchem131Tclin46Tdark36genetic multiple congenital anomalies/dysmorphic syndrome (702)Tbio537Tchem96Tclin44Tdark25sex-linked disease (564)Tbio404Tchem80Tclin43Tdark37hereditary nephritis (545)Tbio386Tchem108Tclin29Tdark22MALT lymphoma (486)Tbio327Tchem89Tdark42Tclin28inherited auditory system disease (471)Tbio333Tchem71Tclin35Tdark32abdominal obesity-metabolic syndrome (462)Tbio309Tchem66Tdark66Tclin21Hashimoto thyroiditis (448)Tbio322Tchem52Tdark41Tclin33hereditary neoplastic syndrome (437)Tbio290Tchem84Tclin51Tdark12immune deficiency disease (417)Tbio275Tchem76Tclin54Tdark12inherited digestive tract tumor (414)Tbio230Tchem129Tclin51Tdark4polycystic ovary syndrome (343)Tbio228Tchem53Tclin32Tdark30genetic biliary tract disease (333)Tbio221Tchem53Tdark30Tclin29genetic systemic or rheumatologic disease (330)Tbio236Tchem64Tclin23Tdark7immunodeficiency disease (330)Tbio232Tchem52Tclin35Tdark11genetic infertility (303)Tbio221Tchem36Tclin32Tdark14cirrhosis, familial (302)Tbio201Tchem49Tdark30Tclin22cataract (267)Tbio218Tchem34Tdark10Tclin5celiac disease (212)Tbio144Tchem32Tdark27Tclin9anomaly of puberty or/and menstrual cycle of genetic origin (186)Tbio140Tclin24Tchem17Tdark5gastroesophageal reflux disease (182)Tbio126Tdark22Tchem19Tclin15hypogonadotropic hypogonadism (172)Tbio129Tclin22Tchem18Tdark3inherited soft tissue tumor (167)Tbio97Tchem34Tdark22Tclin14gallbladder disease (166)Tbio100Tdark25Tchem22Tclin19ciliopathy (149)Tbio132Tdark13Tchem3Tclin1orofacial cleft (139)Tbio94Tchem19Tclin13Tdark13genetic hypertension (127)Tbio80Tchem22Tclin20Tdark5monogenic obesity (115)Tbio87Tchem15Tclin11Tdark2inherited blood coagulation disorder (110)Tbio61Tclin25Tchem22Tdark2inherited renal tubular disease (107)Tbio74Tchem18Tclin12Tdark3inherited neuroendocrine tumor (104)Tbio53Tchem24Tclin23Tdark4genetic cardiac rhythm disease (99)Tbio68Tclin18Tchem12Tdark1genetic vascular anomaly (95)Tbio44Tclin27Tchem23Tdark1familial hemolytic anemia (90)Tbio57Tchem18Tclin15inherited thrombocytopenia (79)Tbio53Tchem14Tclin9Tdark3familial cystic renal disease (76)Tbio60Tchem9Tclin5Tdark2myopia (74)Tbio55Tclin9Tchem6Tdark4Burkitt lymphoma (67)Tbio40Tclin17Tchem10inherited aplastic anemia (66)Tbio49Tchem9Tclin5Tdark3congenital anomaly of kidney and urinary tract (65)Tbio51Tchem8Tclin5Tdark1keratoconus (61)Tbio47Tchem11Tclin2Tdark1hypospadias (57)Tbio45Tclin5Tchem5Tdark2inherited hemoglobinopathy (56)Tbio38Tclin11Tchem5Tdark2microphthalmia (56)Tbio45Tchem9Tclin2hereditary breast carcinoma (47)Tbio33Tchem12Tclin2bronchiectasis (46)Tbio29Tclin14Tdark2Tchem1amelogenesis imperfecta (46)Tbio37Tchem6Tclin3hereditary glaucoma (44)Tbio33Tchem7Tclin2Tdark2inherited bleeding disorder, platelet-type (42)Tbio18Tchem13Tclin7Tdark4hypotrichosis (40)Tbio32Tchem6Tclin2genetic hypoparathyroidism (39)Tbio33Tclin3Tchem2Tdark1mastocytosis (37)Tchem21Tclin8Tbio8visceral heterotaxy (36)Tbio33Tdark2Tchem1tooth agenesis (35)Tbio28Tdark3Tclin2Tchem2atrioventricular dissociation (34)Tchem27Tclin4Tbio3laminopathy (33)Tbio23Tclin5Tchem5intervertebral disc degenerative disorder (32)Tbio21Tchem8Tclin3familial prostate carcinoma (30)Tbio22Tchem5Tclin3focal segmental glomerulosclerosis (29)Tbio22Tchem6Tclin1genetic intestinal polyposis (28)Tbio17Tchem8Tclin3visceral leishmaniasis (27)Tbio20Tclin4Tchem3inherited deficiency anemia (26)Tbio18Tchem6Tclin2Ewing sarcoma (25)Tbio18Tchem5Tclin1Tdark1tetralogy of fallot (24)Tbio18Tclin3Tchem3familial nonmedullary thyroid carcinoma (24)Tbio17Tchem4Tclin3Hirschsprung disease (24)Tbio21Tclin2Tchem1serpinopathy (24)Tbio18Tchem4Tclin2multiple endocrine neoplasia (22)Tbio15Tclin4Tchem3enterocolitis (21)Tbio10Tchem8Tclin3arthrogryposis multiplex congenita (21)Tbio18Tchem2Tclin1familial nephrotic syndrome (20)Tbio17Tchem3familial polycythemia (18)Tclin9Tbio5Tchem4primary hyperoxaluria (18)Tbio11Tchem4Tclin3centronuclear myopathy (18)Tbio13Tchem3Tclin2familial ovarian cancer (17)Tbio12Tchem5distal arthrogryposis (17)Tbio14Tchem2Tclin1ventricular septal defect (16)Tbio13Tclin1Tchem1Tdark1tubular aggregate myopathy (16)Tbio12Tclin2Tchem2hereditary Wilms tumor (15)Tbio11Tchem3Tclin1inherited susceptibility to asthma (15)Tbio6Tclin5Tchem4anterior segment dysgenesis (15)Tbio12Tchem3progeria (15)Tbio11Tclin2Tchem2cryptorchidism (13)Tchem5Tbio5Tclin3familial thoracic aortic aneurysm and aortic dissection (13)Tbio7Tchem6genetic parenchymatous liver disease (12)Tbio10Tchem2inherited sideroblastic anemia (12)Tbio11Tchem1familial pancreatic carcinoma (11)Tbio6Tchem4Tclin1lethal congenital contracture syndrome (11)Tbio6Tchem4Tclin1nemaline myopathy (11)Tbio11congenital diarrhea (10)Tbio6Tclin3Tdark1Fuchs' endothelial dystrophy (10)Tbio7Tdark2Tclin1islet cell adenomatosis (10)Tbio5Tchem3Tclin2renal agenesis (10)Tbio6Tchem2Tclin1Tdark1hyperinsulinemic hypoglycaemia (10)Tbio4Tclin3Tchem3hereditary renal cell carcinoma (9)Tbio5Tchem3Tclin1atrial septal defect (9)Tbio8Tchem1myofibrillar myopathy (9)Tbio7Tclin1Tchem1reticulate pigment disorder (8)Tbio4Tchem3Tdark1genetic hyperparathyroidism (8)Tbio5Tchem2Tclin1achalasia (7)Tbio4Tchem2Tclin1anodontia (7)Tbio7hypothyroidism, congenital, nongoitrous (6)Tbio3Tclin2Tchem1familial glucocorticoid deficiency (6)Tbio4Tclin1Tchem1graft versus host disease (6)Tclin3Tbio3familial hyperaldosteronism (6)Tclin4Tchem2inherited pseudoxanthoma elasticum (6)Tbio3Tchem2Tclin1febrile seizures, familial (5)Tclin3Tbio2short QT syndrome (5)Tclin4Tchem1Klippel-Feil syndrome (5)Tbio5FG syndrome (5)Tbio4Tchem1hypoplastic left heart syndrome (5)Tbio3Tdark2isolated aniridia (5)Tbio5coumarin resistance (5)Tchem4Tclin1hyperreflexia (5)Tclin2Tbio2Tchem1gelatinous drop-like corneal dystrophy (5)Tbio4Tclin1central precocious puberty (5)Tbio3Tchem2atrioventricular septal defect (5)Tbio4Tchem1posterior polymorphous corneal dystrophy (5)Tbio5carcinoid syndrome (5)Tclin5bone marrow failure syndrome (4)Tbio3Tdark1familial juvenile hyperuricemic nephropathy (4)Tbio2Tclin1Tchem1dentin dysplasia type I (4)Tbio3Tchem1renal tubular dysgenesis of genetic origin (4)Tclin3Tbio1embryonal rhabdomyosarcoma (4)Tbio3Tclin1ovarian hyperstimulation syndrome (4)Tbio3Tclin1histiocytoma, Angiomatoid fibrous (4)Tbio3Tchem1primary pigmented nodular adrenocortical disease (4)Tchem2Tclin1Tbio1megacystis-microcolon-intestinal hypoperistalsis syndrome (4)Tbio3Tchem1COACH syndrome (4)Tbio4pulmonary fibrosis and/or bone marrow failure, telomere-related (3)Tbio2Tchem1epithelial-stromal TGFBI dystrophy (3)Tbio3ariboflavinosis (3)Tbio3ear malformation (3)Tbio3hyperglycinuria (3)Tchem2Tbio1hematuria, benign familial (3)Tbio3Peyronie disease (3)Tclin1Tchem1Tbio1Raynaud disease (3)Tbio3pleomorphic adenoma (3)Tbio3protein-losing enteropathy (3)Tbio2Tchem1heart, malformation of (3)Tbio2Tchem1pancreatic agenesis (3)Tbio3neonatal acute respiratory distress due to SP-B deficiency (3)Tbio2Tclin1COPD, severe early onset (3)Tchem2Tbio1hearing loss, cisplatin-induced, susceptibility to (3)Tclin1Tchem1Tbio1familial vesicoureteral reflux (3)Tbio3arterial calcification of infancy (3)Tchem1Tbio1Tdark1dextro-looped transposition of the great arteries (3)Tbio3SELENON-related myopathy (3)Tbio3anemia, hypochromic microcytic with iron overload (2)Tchem1Tbio1Chiari malformation (2)Tbio2polyglucosan body myopathy (2)Tbio2autoimmune disease, multisystem, infantile-onset (2)Tchem2preimplantation embryonic lethality (2)Tbio2hydatidiform mole (2)Tbio2Meesmann corneal dystrophy (2)Tbio2otofaciocervical syndrome (2)Tbio2pernicious anemia (2)Tbio2familial male-limited precocious puberty (2)Tclin1Tbio1congenital ptosis (2)Tbio2tibia, hypoplasia or aplasia of, with polydactyly (2)Tchem1Tbio1asthma, nasal polyps, and aspirin intolerance (2)Tclin1Tbio1Behr syndrome (2)Tchem1Tbio1central areolar choroidal dystrophy (2)Tbio2Jalili syndrome (2)Tbio1Tdark1Hallermann-Streiff syndrome (2)Tbio2megaepiphyseal dwarfism (2)Tbio2megalocornea (2)Tbio2neuropathy, painful (2)Tchem1Tbio1periodontitis, chronic, adult (2)Tclin1Tchem1de Sanctis-Cacchione syndrome (2)Tbio2cardiomyopathy, infantile hypertrophic (2)Tbio2Helicobacter pylori infection, susceptibility to (2)Tchem1Tbio1alveolar soft part sarcoma (2)Tbio2short stature-delayed bone age due to thyroid hormone metabolism deficiency (2)Tbio2preterm premature rupture of the membranes (2)Tchem1Tbio1myostatin-related muscle hypertrophy (2)Tclin1Tdark1intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (2)Tclin1Tdark1hereditary gingival fibromatosis (2)Tchem1Tbio1congenital short bowel syndrome 1 (2)Tbio2collagenopathy type 2 alpha 1 (2)Tbio2foveal hypoplasia (2)Tbio2multinodular goiter (1)Tbio1cornea plana (1)Tbio1prune belly syndrome (1)Tclin1ankyloglossia (1)Tbio1arcus senilis (1)Tbio1Schnyder corneal dystrophy (1)Tbio1fleck corneal dystrophy (1)Tchem1epithelial recurrent erosion dystrophy (1)Tbio1creatine phosphokinase, elevated serum (1)Tbio1primary failure of tooth eruption (1)Tclin1dentin dysplasia type II (1)Tbio1dentinogenesis imperfecta type 2 (1)Tbio1dentinogenesis imperfecta type 3 (1)Tbio1ectopia lentis 1, isolated, autosomal dominant (1)Tbio1epidermolysis bullosa with congenital localized absence of skin and deformity of nails (1)Tbio1intellectual disability, FRA12A type (1)Tdark1fibronectin glomerulopathy (1)Tchem1hepatic adenomas, familial (1)Tbio1hyperthyroxinemia, dystransthyretinemic (1)Tclin1hypophosphatemic bone disease (1)Tbio1indifference to pain, congenital, autosomal dominant (1)Tdark1keratitis fugax hereditaria (1)Tchem1tooth ankylosis (1)Tclin1mullerian aplasia and hyperandrogenism (1)Tbio1hereditary neutrophilia (1)Tclin1isolated optic nerve hypoplasia (1)Tbio1periodontitis, aggressive 1 (1)Tchem1familial spontaneous pneumothorax (1)Tbio1premature chromatid separation trait (1)Tbio1pulmonary edema of mountaineers, susceptibility to (1)Tclin1ring dermoid of cornea (1)Tbio1Robinow-Sorauf syndrome (1)Tbio1aplasia of lacrimal and salivary glands (1)Tbio1trichomegaly (1)Tbio1congenital vertical talus (1)Tbio1Wolff-Parkinson-white syndrome (1)Tchem1zinc, elevated plasma (1)Tbio1hereditary arterial and articular multiple calcification syndrome (1)Tchem1carboxypeptidase N deficiency (1)Tchem1cardiac valvular defect, developmental (1)Tchem1dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (1)Tbio1colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (1)Tbio1coloboma, ocular, autosomal recessive (1)Tbio1congenital hereditary endothelial dystrophy of cornea (1)Tbio1ectopia lentis 2, isolated, autosomal recessive (1)Tbio1ectopia lentis et pupillae (1)Tbio1congenital enteropathy due to enteropeptidase deficiency (1)Tchem1immunodeficiency 32B (1)Tbio1galactorrhea (1)Tbio1hyperlysinuria with hyperammonemia (1)Tbio1hypoglycemia, leucine-induced (1)Tclin1hypoinsulinemic hypoglycemia and body hemihypertrophy (1)Tchem1metabolic myopathy due to lactate transporter defect (1)Tchem1microcephaly-micromelia syndrome (1)Tbio1microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (1)Tbio1myopathy with abnormal lipid metabolism (1)Tbio1progesterone resistance (1)Tclin1pulmonary alveolar microlithiasis (1)Tchem1pyloric atresia (1)Tbio1pyropoikilocytosis, hereditary (1)Tbio1growth delay due to insulin-like growth factor I resistance (1)Tclin1tardive dyskinesia (1)Tclin1isolated thyrotropin-releasing hormone deficiency (1)Tbio1isolated right ventricular hypoplasia (1)Tbio1intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (1)Tbio1Uruguay Faciocardiomusculoskeletal syndrome (1)Tbio1Tn polyagglutination syndrome (1)Tbio1myopathy, reducing body, X-linked, early-onset, severe (1)Tbio1myopathy, reducing body, X-linked, childhood-onset (1)Tbio1Meester-Loeys syndrome (1)Tbio1anosmia (1)Tchem1proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis (1)Tbio1nephrolithiasis, X-linked recessive, with renal failure (1)Tbio1cardiac valvular dysplasia, X-linked (1)Tbio1macrocytosis, familial (1)Tbio1gonadal agenesis (1)Tbio1cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies (1)Tbio1pleuropulmonary blastoma (1)Tbio1brachyolmia-amelogenesis imperfecta syndrome (1)Tbio1renal dysplasia, cystic, susceptibility to (1)Tbio1facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome (1)Tchem1acroosteolysis-keloid-like lesions-premature aging syndrome (1)Tclin1arhinia, choanal atresia, and microphthalmia (1)Tbio1prostate cancer/brain cancer susceptibility (1)Tchem1deafness, nonsyndromic, modifier 1 (1)Tbio1myopathy, proximal, and ophthalmoplegia (1)Tbio1persistent polyclonal B-cell lymphocytosis (1)Tbio1vitiligo-associated multiple autoimmune disease susceptibility 1 (1)Tbio1partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (1)Tbio1hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (1)Tbio1thyroid Hurthle cell carcinoma (1)Tclin1Camptosynpolydactyly, complex (1)Tbio1nonimmune chronic idiopathic neutropenia of adults (1)Tbio1zinc deficiency, transient neonatal (1)Tbio1parathyroid gland carcinoma (1)Tbio1coronary artery disease, autosomal dominant, 1 (1)Tbio1growth delay due to insulin-like growth factor type 1 deficiency (1)Tbio1sudden infant death-dysgenesis of the testes syndrome (1)Tbio1Meacham syndrome (1)Tbio1congenital stromal corneal dystrophy (1)Tbio1diaphragmatic hernia 3 (1)Tbio1testicular microlithiasis (1)Tchem1corticosterone methyloxidase type 2 deficiency (1)Tchem1coronary artery disease, autosomal dominant 2 (1)Tbio1XFE progeroid syndrome (1)Tbio1craniofacial dysplasia - osteopenia syndrome (1)Tbio1Mungan syndrome (1)Tbio1corticosteroid-binding globulin deficiency (1)Tchem1familial cavitary optic disc anomaly (1)Tbio1Krabbe disease, atypical, due to saposin A deficiency (1)Tbio1Pseudofolliculitis barbae (1)Tbio1skeletal defects, genital hypoplasia, and intellectual disability (1)Tbio1Compton-North congenital myopathy (1)Tbio1Hirschsprung disease-ganglioneuroblastoma syndrome (1)Tbio1follicular lymphoma, susceptibility to, 1 (1)Tbio1bile acid malabsorption, primary (1)Tclin1Birbeck granule deficiency (1)Tbio1cocoon syndrome (1)Tchem1intellectual disability, anterior maxillary protrusion, and strabismus (1)Tbio1inosine triphosphatase deficiency (1)Tbio1Hirschsprung disease, cardiac defects, and autonomic dysfunction (1)Tchem1obesity, hyperphagia, and developmental delay (1)Tclin1acetyl-coa carboxylase deficiency (1)Tchem1Okt4 epitope deficiency (1)Tclin1cyanosis, transient neonatal (1)Tbio1alpha-2-macroglobulin deficiency (1)Tbio1trypsinogen deficiency (1)Tclin1acetyl-CoA acetyltransferase-2 deficiency (1)Tchem1N-acetylaspartate deficiency (1)Tbio1anhaptoglobinemia (1)Tbio1hyperbiliverdinemia (1)Tbio1overgrowth-macrocephaly-facial dysmorphism syndrome (1)Tbio1craniofacial anomalies and anterior segment dysgenesis syndrome (1)Tbio1arthrogryposis, Perthes disease, and upward gaze palsy (1)Tchem1platelet-activating factor acetylhydrolase deficiency (1)Tchem1cognitive impairment with or without cerebellar ataxia (1)Tclin1MEGF10-Related Myopathy (1)Tbio1psychomotor retardation, epilepsy, and craniofacial dysmorphism (1)Tbio1efavirenz, poor metabolism of (1)Tchem1short stature-optic atrophy-Pelger-HuC+t anomaly syndrome (1)Tbio1congenital heart defects, multiple types, 2 (1)Tbio1phosphohydroxylysinuria (1)Tbio1multiple fibroadenoma of the breast (1)Tbio1complement factor b deficiency (1)Tchem1L-ferritin deficiency (1)Tbio1short stature with microcephaly and distinctive facies (1)Tbio1Webb-Dattani syndrome (1)Tbio1kallikrein, decreased urinary activity of (1)Tchem1short stature due to primary acid-labile subunit deficiency (1)Tbio1hyperthyroxinemia, familial dysalbuminemic (1)Tchem1congenital analbuminemia (1)Tchem1hyperproinsulinemia (1)Tbio1short stature with nonspecific skeletal abnormalities (1)Tclin1Tenorio syndrome (1)Tbio1congenital contractures of the limbs and face, hypotonia, and developmental delay (1)Tchem1epidermolysis bullosa simplex with nail dystrophy (1)Tbio1leukodystrophy and acquired microcephaly with or without dystonia; (1)Tbio1Lamb-Shaffer syndrome (1)Tbio1severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome (1)Tdark1Luscan-Lumish syndrome (1)Tchem1exercise intolerance, riboflavin-responsive (1)Tbio1cerebellar atrophy, visual impairment, and psychomotor retardation; (1)Tbio1heart and brain malformation syndrome (1)Tbio1dyskinesia, limb and orofacial, infantile-onset (1)Tclin1chorea, childhood-onset, with psychomotor retardation (1)Tchem1retinitis pigmentosa and erythrocytic microcytosis (1)Tbio1neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (1)Tbio1macrocephaly, dysmorphic facies, and psychomotor retardation (1)Tbio1MIRAGE syndrome (1)Tbio1Okur-Chung neurodevelopmental syndrome (1)Tchem1portal hypertension, noncirrhotic (1)Tbio1Dias-Logan syndrome (1)Tbio1Alazami-Yuan syndrome (1)Tbio1neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (1)Tbio1Sifrim-Hitz-Weiss syndrome (1)Tchem1short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (1)Tbio1Chitayat syndrome (1)Tbio1language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (1)Tbio1Harel-Yoon syndrome (1)Tbio1Shashi-Pena syndrome (1)Tbio1encephalopathy, progressive, with amyotrophy and optic atrophy (1)Tbio1sudden cardiac failure, infantile (1)Tbio1sudden cardiac failure, alcohol-induced (1)Tbio1myoclonus, intractable, neonatal (1)Tbio1cone-rod dystrophy and hearing loss (1)Tbio1lung disease, immunodeficiency, and chromosome breakage syndrome; (1)Tbio1global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (1)Tbio1neurodevelopmental disorder with hypotonia, seizures, and absent language (1)Tbio1hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to (1)Tchem1coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (1)Tchem1susceptibility to Yao syndrome (1)Tclin1hypotonia, ataxia, and delayed development syndrome (1)Tbio1intellectual developmental disorder with dysmorphic facies and ptosis (1)Tchem1FRAXF syndrome (1)Tdark1isolated congenital breast hypoplasia/aplasia (1)Tchem1inherited cardiac tumor (1)Tbio1hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome (1)Tbio1LMNA-related cardiocutaneous progeria syndrome (1)Tbio1biological anomaly without phenotypic characterization (1)Tbio1familial parathyroid adenoma (1)Tbio1contractures, pterygia, and variable skeletal fusions syndrome (1)Tbio1carcinoid tumors, intestina (1)Tbio1harderoporphyria (1)Tbio1short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (1)Tbio1diencephalic-mesencephalic junction dysplasia syndrome (1)Tbio1inherited mitral valve disease (1)Tbio1congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (1)Tchem1congenital heart defects and ectodermal dysplasia (1)Tchem1brachycephaly, trichomegaly, and developmental delay (1)Tbio1immunoskeletal dysplasia with neurodevelopmental abnormalities (1)Tbio1thrombocytopenia, anemia, and myelofibrosis (1)Tbio1structural heart defects and renal anomalies syndrome (1)Tdark1autoinflammation with arthritis and dyskeratosis (1)Tbio1neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (1)Tchem1neurodevelopmental disorder with involuntary movements (1)Tbio1neurodevelopmental disorder with hypotonia, neuropathy, and deafness (1)Tbio1retinal dystrophy with or without macular staphyloma (1)Tbio1Cohen-Gibson syndrome (1)Tchem1maleylacetoacetate isomerase deficiency (1)Tbio1congenital heart defects and skeletal malformations syndrome (1)Tclin1microcephaly, short stature, and limb abnormalities (1)Tbio1congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (1)Tbio1encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities (1)Tbio1neurodevelopmental disorder with microcephaly, ataxia, and seizures (1)Tbio1neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (1)Tbio1platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (1)Tbio1facial palsy, congenital, with ptosis and velopharyngeal dysfunction (1)Tclin1immunodeficiency, developmental delay, and hypohomocysteinemia (1)Tchem1Sweeney-Cox syndrome (1)Tbio1neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (1)Tchem1combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (1)Tchem1neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (1)Tchem1neurodevelopmental disorder with severe motor impairment and absent language (1)Tchem1neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (1)Tbio1neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive (1)Tclin1Alkuraya-Kucinskas syndrome (1)Tbio1neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (1)Tbio1neurodevelopmental disorder with or without seizures and gait abnormalities (1)Tclin1neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (1)Tbio1neurodevelopmental disorder with poor language and loss of hand skills (1)Tclin1Diamond-Blackfan anemia-like (1)Tbio1congenital heart defects, multiple types, 5 (1)Tbio1neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (1)Tbio1hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (1)Tbio1neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (1)Tbio1Ververi-Brady syndrome (1)Tdark1Jaberi-Elahi syndrome (1)Tbio1developmental delay, intellectual disability, obesity, and dysmorphic features (1)Tbio1deafness, congenital heart defects, and posterior embryotoxon (1)Tbio1humerofemoral hypoplasia with radiotibial ray deficiency (1)Tbio1intellectual developmental disorder with or without epilepsy or cerebellar ataxia (1)Tchem1GATA1-Related X-Linked Cytopenia (1)Tbio1RYR1-related myopathy (1)Tclin1growth hormone insensitivity syndrome with immune dysregulation (1)Tchem1IFAP syndrome (1)Tbio1microcephaly, epilepsy, and diabetes syndrome (1)Tbio1SEC61A1 deficiency (1)Tbio1camptodactyly syndrome, Guadalajara (0)cerebelloparenchymal disorder (0)hereditary kidney oncocytoma (0)hereditary fallopian tube carcinoma (0)fibromuscular dysplasia (0)familial abdominal aortic aneurysm (0)Achard syndrome (0)Achoo syndrome (0)acroleukopathy, symmetric (0)acromegaloid changes, cutis verticis gyrata, and corneal leukoma (0)acromial dimples (0)acylase, cobalt-activated (0)adenosine triphosphatase deficiency, anemia due to (0)amastia, bilateral, with ureteral triplication and dysmorphism (0)amelia and terminal transverse hemimelia (0)amenorrhea-galactorrhea syndrome (0)amyotrophic dystonic paraplegia (0)anal sphincter dysplasia (0)anal sphincter myopathy, internal (0)aniridia, microcornea, and spontaneously Reabsorbed cataract (0)anisocoria (0)annular erythema (0)anonychia-ectrodactyly (0)anonychia-onychodystrophy with brachydactyly type b and ectrodactyly (0)Antipyrine metabolism (0)antiviral state repressor, regulator of (0)aortic arch interruption, facial palsy, and retinal coloboma (0)arms, malformation of (0)arteries, anomalies of (0)arteritis, familial granulomatous, with juvenile polyarthritis (0)arthritis, sacroiliac (0)asymmetric short stature syndrome (0)PR interval, variation 1N (0)aurocephalosyndactyly (0)Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities (0)azotemia, familial (0)beta-amino acids, renal transport of (0)bladder diverticulum (0)blepharochalasis, superior (0)bone pain, periodic (0)Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay (0)brachymesomelia-renal syndrome (0)Brachymetatarsus 4 (0)branchial myoclonus with spastic paraparesis and cerebellar ataxia (0)familial juvenile hypertrophy of the breast (0)bundle branch block, familial isolated complete right (0)butyrylesterase 1 (0)calcific aortic disease with immunologic abnormalities, familial (0)cancer, familial, with in vitro Radioresistance (0)canine teeth, absence of upper permanent (0)Car factor deficiency (0)Carabelli anomaly of maxillary molar teeth (0)carpal displacement (0)celiac artery stenosis from compression by median arcuate ligament of diaphragm (0)cervical hypertrichosis with underlying kyphoscoliosis (0)cervical vertebral Bridge (0)cervical vertebral dysplasia (0)chemodectoma, intraabdominal, with cutaneous angiolipomas (0)chlorpropamide-alcohol flushing (0)Chondronectin (0)choroidal osteoma, bilateral (0)cleft chin (0)colonic varices without portal hypertension (0)comedones, familial Dyskeratotic (0)commissural lip pits (0)coracoclavicular joint, anomalous (0)cornea guttata with anterior polar cataracts (0)corneal degeneration, ribbonlike, with deafness (0)coxa vara (0)cranioacrofacial syndrome (0)cryofibrinogenemia, familial primary (0)cryptotia, familial (0)Darwinian tubercle of pinna (0)deafness, mid-tone neural (0)deafness, sensorineural, with peripheral neuropathy and arterial disease (0)deafness, unilateral (0)deafness with anhidrotic ectodermal dysplasia (0)dens evaginatus (0)dens in dente and palatal invaginations (0)dementia/parkinsonism with non-Alzheimer amyloid plaques (0)dentin dysplasia-sclerotic bones syndrome (0)deoxyribose-5-phosphate aldolase deficiency (0)dermal Ridges, patternless (0)diarrhea, glucose-stimulated secretory, with common variable immunodeficiency (0)diastema, dental medial (0)dilution, pigmentary (0)discrimination, Two-point, reduction 1N (0)distal osteosclerosis (0)distichiasis with congenital anomalies of the heart and peripheral vasculature (0)DNA, satellite, 3 (0)DNA, low-repetitive sequences of (0)double nail for fifth toe (0)duodenal ulcer due to antral G-cell hyperfunction (0)duodenal ulcer, hyperpepsinogenemic 1 (0)dwarfism, Levi type (0)dwarfism with stiff joints and ocular abnormalities (0)dystelephalangy (0)ear antitragus, tag at base of (0)ear exostoses (0)ear folding (0)preauricular fistulae, congenital (0)ear pits, posterior helical (0)earring holes, natural (0)ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet (0)ectodermal dysplasia with adrenal cyst (0)ectopia pupillae (0)ectrodactyly and ectodermal dysplasia without cleft lip/palate (0)ectrodactyly-cleft palate syndrome (0)edema, familial idiopathic, prepubertal (0)electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon (0)electroencephalographic peculiarity: fronto-precentral beta wave groups (0)Electroencephalographic peculiarity: occipital slow beta waves (0)emphysema, hereditary pulmonary (0)enolase, sperm specific (0)eosinophilia, familial (0)Eosinophilopenia (0)epidermoid cysts (0)epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase (0)erythema nodosum, familial (0)esophageal ring, lower (0)esterase B (0)esterase C (0)esterase ES-2, regulator for (0)exchondrosis of pinna, posterior (0)exostoses of heel (0)facial hypertrichosis (0)facial spasm (0)factor VIII and Factor IX, combined deficiency of (0)factors VIII, IX and XI, combined deficiency of (0)factor 9 and Factor XI, combined deficiency of (0)fibrinolytic defect (0)fibula, recurrent dislocation of head of (0)flushing of ears and somnolence (0)focal epithelial hyperplasia of the oral mucosa (0)fragile site 10Q23 (0)Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness (0)fucosidase regulator (0)gamma-A-globulin, defect in assembly of (0)gastric sneezing (0)gastric volvulus, intrathoracic (0)gastric juice peptides (0)gastric mucosal hypertrophy (0)genochondromatosis (0)genu valgum, st. Helena familial (0)giant neutrophil leukocytes (0)globulin anomaly involving beta (2A)-globulin (0)Glucoglycinuria (0)glucose-6-phosphate dehydrogenase-like (0)glutamic acid decarboxylase, brain, membrane form (0)glutathione transferase activity toward trans-stilbene oxide (0)granddad syndrome (0)granulosis rubra nasi (0)graying of hair, precocious (0)guanylate kinase 3 (0)hairy ears (0)hairy nose tip (0)hairy palms and soles (0)hand clasping pattern (0)Kasabach-Merritt syndrome (0)hemolytic poikilocytic anemia due to reduced ankyrin binding sites (0)hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain (0)hernia, double inguinal (0)heterochromia iridis (0)histiocytic dermatoarthritis (0)HPA 1 Recognition polymorphism, beta-globin-related (0)5-hydroxytryptamine oxygenase regulator (0)orthostatic hypotensive disorder, Streeten type (0)hyperheparinemia (0)hyperhidrosis palmaris ET plantaris (0)hyperimmunoglobulin G1(A1) syndrome (0)hyperlipoproteinemia, type II, and deafness (0)hyperpigmentation of eyelid (0)hyperpigmentation of Fuldauer and Kuijpers (0)hyperproglucagonemia (0)hypersecretion of adrenal androgens, familial (0)hypersensitivity pneumonitis, familial (0)hypertaurinuric cardiomyopathy (0)hyperthermia, cutaneous, with headaches and nausea (0)hypertrophia musculorum vera (0)hypoxanthine guanine phosphoribosyltransferase suppressor (0)immune suppression (0)fused mandibular incisors (0)immunoglobulin switch sequences (0)incisors, long upper central (0)insulin receptors, familial increase 1N (0)incisors, lower central, absence of (0)incisors, rotation of upper central (0)incisors, shovel-shaped (0)insensitivity to pain with hyperplastic Myelinopathy (0)insect Stings, hypersensitivity to (0)interferon antiviral depressor (0)iris pigment layer, cleavage of (0)intussusception (0)internal carotid artery, spontaneous dissection of (0)keloid formation (0)keratosis, familial actinic (0)knuckle pads (0)Kyrle disease (0)labia minora, incomplete adhesion of (0)lactic acidosis, chronic adult form (0)laryngeal adductor paralysis (0)lattice degeneration of retina leading to retinal detachment (0)lazy leukocyte syndrome (0)leg ulcers, familial, of juvenile onset (0)lentigines (0)lentiginosis, centrofacial neurodysraphic (0)leukocyte nuclear appendages, hereditary prevalence of (0)levator-medial rectus synkinesis (0)lip, hamartomatous (0)lipoprotein types--Lt system (0)lipoprotein, variant of beta (0)lithium transport (0)low density lipoprotein, variation in molecular weight of (0)lumbar stenosis, familial (0)macrocephaly, benign familial (0)malocclusion due to protuberant upper front teeth (0)Mammastatin (0)mannose 6-phosphate receptor recognition defect, Lebanese type (0)marfanoid hypermobility syndrome (0)masticatory muscles, hypertrophy of (0)maxillofacial dysostosis (0)Meckel diverticulum (0)mediosternal depigmentation line (0)Megalodactyly (0)melanoma tumor antigen Gp90 (0)mental and growth retardation with amblyopia (0)mesomelic dwarfism of hypoplastic tibia and radius type (0)metachromasia of fibroblasts (0)metatarsus varus, type 1 (0)microphthalmia, isolated, with corectopia (0)microspherophakia with hernia (0)milia, multiple eruptive (0)antigen defined by monoclonal antibody Aj9 (0)antigen defined by monoclonal antibody T87 (0)Monophalangy of great toe (0)nondisjunction (0)multiple exostoses with spastic tetraparesis (0)muscle cramps, familial (0)muscular atrophy, malignant neurogenic (0)muscular hypoplasia, congenital universal, of Krabbe (0)myelinated optic nerve fibers (0)myoclonus and ataxia (0)myopathy with storage of glycoproteins and Glycosaminoglycans (0)nasal alar collapse, bilateral (0)nasal bones, absence of (0)nasal groove, familial transverse (0)nasal hyperpigmentation, familial transverse (0)navicular bone, accessory (0)neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome (0)neuropathy, congenital, with arthrogryposis multiplex (0)neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance (0)neuropathy, with paraprotein in serum, cerebrospinal fluid and urine (0)neutropenia, chronic familial (0)abnormal neutrophil chemotactic response (0)nevus anemicus (0)nevus flammeus of nape of neck (0)nipples inverted (0)familial supernumerary nipples (0)noduli Cutanei, multiple, with urinary tract abnormalities (0)nose, anomalous shape of (0)ocular dominance (0)onychogryposis, pedal, with keratosis plantaris and coarse hair (0)olivopontocerebellar atrophy 5 (0)omphalocele, autosomal (0)ophthalmoplegia, familial static (0)ophthalmoplegia, familial total, with iris transillumination (0)ossified ear cartilages (0)ossicular malformations, familial (0)osteosclerosis with ichthyosis and fractures (0)ovalocytosis, hereditary hemolytic, with defective erythropoiesis (0)osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension (0)palmaris longus muscle, absence of (0)pancytopenia and occlusive vascular disease (0)papillomatosis, confluent and reticulated (0)papillomatosis, florid, of nipple (0)Paramolar tubercle of bolk (0)Parotidomegaly, hereditary bilateral (0)Passovoy factor defect (0)patella, familial recurrent dislocation of (0)Pechet factor deficiency (0)pectus excavatum (0)pelvic lipomatosis with crossed renal ectopia (0)peroneal nerve, accessory deep (0)peroxidase, salivary (0)phagocytosis, plasma-related defect 1N (0)pheochromocytoma-islet cell tumor syndrome (0)phlebectasia of lips (0)phosphatase, acid, of tissues (0)phosphoglucomutase 4 (0)6-phosphogluconolactonase deficiency (0)phosphoglycoprotein 1 (0)photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction (0)pigmented purpuric eruption (0)pilonidal sinus (0)platelet adenylate cyclase activity (0)platelet aggregation, spontaneous (0)platelet disorder, undefined (0)platelet factor 3 deficiency (0)platelet membrane fluidity (0)platelet responsiveness to adrenaline, depressed (0)platelet signal processing defect (0)polyposis, intestinal, scattered and discrete (0)polyposis, intestinal, with multiple exostoses (0)polyposis of gastric fundus without polyposis coli (0)polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (0)popliteal cyst (0)posterior column ataxia (0)presenile dementia, Kraepelin type (0)priapism, familial idiopathic (0)pelvic organ prolapse, susceptibility to (0)pronation-supination of the forearm, impairment of (0)proteolytic capacity of plasma (0)Protrusio acetabuli (0)pruritus, hereditary localized (0)pseudoarthrogryposis (0)Pseudoatrophoderma colli (0)pseudocholinesterase, increase in plasma level of (0)pseudomonilethrix (0)pterygium colli, isolated (0)pubic bone dysplasia (0)pulmonary atresia with ventricular septal defect (0)pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities (0)pulmonic stenosis and deafness (0)pupil, egg-shaped (0)pupillary membrane, persistence of (0)purpura simplex (0)radial heads, posterior dislocation of (0)radius, aplasia of, with cleft lip/palate (0)ragweed sensitivity (0)raindrop hypopigmentation (0)red cell permeability defect (0)red cell phospholipid defect with hemolysis (0)retinal venous beading (0)rhiny (0)salivary substance, Clostridium botulinum type (0)salivary duct calculi (0)scapula, contour of vertebral border of (0)sella turcica, bridged (0)sister chromatid exchange, frequency of (0)skeletal dysplasia with delayed epiphyseal and carpal bone ossification (0)slipped femoral capital epiphyses (0)ketone compounds, ability to smell (0)Somatomedin, embryonic (0)spastic paraplegia with associated extrapyramidal signs (0)spastic paraplegia, optic atrophy, and dementia (0)sperm protamine P4 (0)spinocerebellar ataxia with rigidity and peripheral neuropathy (0)spinocerebellar atrophy with pupillary paralysis (0)splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells (0)split lower lip (0)split-hand and split-foot with hypodontia (0)spondylosis, cervical (0)sternum, premature obliteration of sutures of (0)storm syndrome (0)strabismus, susceptibility to (0)striae distensae, familial (0)sulfhemoglobinemia, congenital (0)surface antigen, glycoprotein 75 (0)symphalangism of toes (0)surface polypeptides, anonymous (0)symphalangism, C. S. Lewis type (0)synovial chondromatosis, familial, with dwarfism (0)syringomas, multiple (0)talonavicular coalition (0)tarsal coalition (0)tear protein, anodal (0)T-cell Subgroups, non-HLA-linked (0)teeth, odd shapes of (0)teeth present at birth (0)teeth, supernumerary (0)temperature-sensitive lethal mutation (0)spermatic cord torsion (0)tetralogy of fallot and glaucoma (0)theophylline Biotransformation (0)thoracic dysostosis, isolated (0)thumb deformity (0)thyroid hormone plasma membrane transport defect (0)tibial torsion, bilateral medial (0)toe, fifth, number of phalanges 1N (0)toe, misshapen (0)toe, rotated fifth (0)toes, relative length of first and second (0)toes, space between first and second (0)malposition of teeth with or without hypodontia/oligodontia (0)torus palatinus and torus mandibularis (0)tremor of intention, ataxia, and lipofuscinosis (0)trichoepitheliomas, multiple desmoplastic (0)trigger thumb (0)triphalangeal thumb with double phalanges (0)triphalangeal thumb, Nonopposable (0)Tristichiasis (0)Tuftsin deficiency (0)suppressor of tumorigenicity 3 (0)tune deafness (0)twinning due to superfetation (0)Undritz anomaly (0)urate-binding globulin, decrease 1N (0)ureter, bifid or double (0)ureterocele (0)urolithiasis, uric acid, autosomal dominant (0)urinary bladder, atony of (0)uterine anomalies (0)vascular helix of umbilical cord (0)veins, pattern of, on anterior thorax (0)venular insufficiency, systemic (0)vertebral hypoplasia with lumbar kyphosis (0)vestibulocochlear dysfunction, progressive (0)virus Rd114 RNA Complementarity (0)volvulus of midgut (0)widow's peak (0)Woronets trait (0)aganglionosis, total intestinal (0)agenesis of cerebral white matter (0)amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis (0)Amobarbital, deficient N-hydroxylation of (0)amyloidosis of gingiva and conjunctiva, with intellectual disability (0)amyloidosis, cutaneous bullous (0)angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert (0)anosmia for isobutyric acid (0)antithrombin, familial hemorrhagic diathesis due to (0)arteriosclerosis, severe juvenile (0)arthrogryposis, distal, with intellectual disability and characteristic facies (0)asthma, short stature, and elevated IgA (0)ataxia with myoclonic epilepsy and presenile dementia (0)ataxia, deafness, and cardiomyopathy (0)ataxia-microcephaly-cataract syndrome (0)Athrombia, essential (0)atonic-astatic syndrome of Foerster (0)berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification (0)beta-aminoisobutyric acid, urinary excretion of (0)biliary malformation with renal tubular insufficiency (0)Bowen syndrome of multiple malformations (0)brachydactyly, type A2, with microcephaly (0)Sabinas brittle hair syndrome (0)camptodactyly-ichthyosis syndrome (0)congenital disorder of glycosylation, type i/IIx (0)cardiac septal defects with coarctation of the aorta (0)cardioauditory syndrome of Sanchez Cascos (0)cardiomyopathy associated with myopathy and sudden death (0)carnitine deficiency, myopathic (0)premature centromere division (0)cephalin lipidosis (0)cerebellar ataxia and neurosensory deafness (0)cerebellar ataxia, benign, with thermoanalgesia (0)cerebral angiopathy, dysphoric (0)cerebral malformation, seizures, hypertrichosis, and overlapping fingers (0)cerebrocortical degeneration of infancy (0)cervical vertebrae, agenesis of (0)CHAND syndrome (0)cholestasis with gallstone, ataxia, and visual disturbance (0)cholesterol pneumonia (0)chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome (0)chromosomal instability with tissue-specific radiosensitivity (0)circumvallate placenta syndrome (0)citrulline transport defect (0)combined inflammatory and immunologic defect (0)convulsive disorder, familial, with prenatal or early onset (0)corneal degeneration, band-shaped spheroid (0)cramps, familial adolescent (0)cranial nerves, congenital paresis of (0)cranial nerves, recurrent paresis of (0)craniosynostosis with anomalies of the cranial base and digits (0)craniosynostosis-intellectual disability syndrome of 51N and Gettig (0)curved nail of fourth toe (0)cutis verticis gyrata and intellectual disability (0)cyanosis and hepatic disease (0)cysteine Peptiduria (0)cystic disease of lung (0)deafness, congenital, and familial myoclonic epilepsy (0)deafness, neural, congenital moderate (0)deafness, neural, with atypical atopic dermatitis (0)dextrocardia with unusual facies and microphthalmia (0)diaminopentanuria (0)disseminated sclerosis with narcolepsy (0)diverticulosis, small-intestinal (0)Dohle bodies and leukemia (0)dopamine beta-hydroxylase, plasma, thermolability of (0)dwarfism, low-birth-weight type, with unresponsiveness to growth hormone (0)dwarfism, intellectual disability, and eye abnormality (0)dwarfism, proportionate, with hip dislocation (0)dysautonomia-like disorder (0)dysmyelination with jaundice (0)dystonia with Ringbinden (0)encephalomalacia, multilocular (0)encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts (0)endocardial fibroelastosis and coarctation of abdominal aorta (0)endothelial dystrophy, congenital hereditary, with nail hypoplasia (0)epidermolysis bullosa with diaphragmatic hernia (0)epilepsy, photogenic, with spastic diplegia and intellectual disability (0)epiphyseal dysplasia of femoral head, myopia, and deafness (0)epithelial squamous dysplasia, keratinizing desquamative, of urinary tract (0)erythema of acral regions (0)ethanolaminosis (0)facial abnormalities, kyphoscoliosis, and intellectual disability (0)faciothoracogenital syndrome (0)Fanconi-like syndrome (0)fever, familial lifelong persistent (0)focal epithelial hyperplasia (0)Fraser-like syndrome (0)Freesia Flowers, inability to smell (0)Friedreich ataxia and congenital glaucoma (0)fructose and galactose intolerance (0)fructose utilization (0)monosodium glutamate sensitivity (0)gluteal muscles, absence of (0)GOMBO syndrome (0)granulocytopenia with immunoglobulin abnormality (0)grouped pigmentation of the retina (0)Halothane hepatitis (0)hemangiomatosis, cutaneous, with associated features (0)Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect (0)familial lipochrome histiocytosis (0)Hooft disease (0)Hutterite cerebroosteonephrodysplasia syndrome (0)hydroxyprolinemia (0)hymen, imperforate (0)hyperleucine-Isoleucinemia (0)hyperlexia (0)hypermetabolism due to defect in mitochondria (0)hyperopia, high (0)hyperparathyroidism, neonatal self-limited primary, with hypercalciuria (0)hyperphosphatemia, polyuria, and seizures (0)hypertelorism and tetralogy of fallot (0)hypertrophic neuropathy and cataract (0)hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase (0)hypervitaminosis a, susceptibility to (0)hypogonadism with low-grade mental deficiency and microcephaly (0)hypogonadism, male (0)hypohidrosis with abnormal palmar dermal Ridges (0)hypokalemic alkalosis, familial, with specific renal tubulopathy (0)hypophosphatemia, renal, with intracerebral calcifications (0)hypopituitarism, congenital, with central diabetes insipidus (0)ichthyosis congenita with biliary atresia (0)ichthyosis, split hairs, and amino aciduria (0)immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes (0)immunoglobulin d level in plasma, low (0)indolylacroyl glycinuria with intellectual disability (0)inosine phosphorylase deficiency, immune defect due to (0)internal carotid arteries, hypoplasia of (0)acetylation, slow (0)isovaleric acid, inability to smell (0)Jumping Frenchmen of Maine (0)keratoconus and congenital hip dysplasia (0)keratoconus posticus circumscriptus (0)Ketoadipicaciduria (0)Kniest-like dysplasia with pursed lips and ectopia lentis (0)Kifafa seizure disorder (0)lactic aciduria due to D-lactic acid (0)Lambotte syndrome (0)leukemia, acute myelocytic, with polyposis coli and colon cancer (0)lymphoid system deterioration, progressive (0)lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis (0)lysine malabsorption syndrome (0)macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance (0)macrosomia adiposa congenita (0)magnesium, elevated red cell (0)malocclusion and short stature (0)mandibulofacial dysostosis with mental deficiency (0)megalencephaly with dysmyelination (0)mesangial sclerosis, diffuse renal, with ocular abnormalities (0)mesoaxial hexadactyly and cardiac malformation (0)metaphyseal chondrodysplasia, Pena type (0)metaphyseal dysplasia, anetoderma, and optic atrophy (0)metaphyseal modeling abnormality, skin lesions, and spastic paraplegia (0)methionine malabsorption syndrome (0)microcolon (0)microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies (0)microtia with meatal atresia and conductive deafness (0)mucus inspissation of respiratory tract (0)muscular dystrophy, adult-onset, with leukoencephalopathy (0)muscular hypertonia, lethal (0)musk, inability to smell (0)myopathy, granulovacuolar lobular, with electrical myotonia (0)myopathy due to malate-aspartate shuttle defect (0)myopathy with giant abnormal mitochondria (0)neurologic disease, infantile multisystem, with osseous fragility (0)neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive (0)obesity-hypoventilation syndrome (0)ocular myopathy with curare sensitivity (0)oculocerebral hypopigmentation syndrome of Preus (0)oculorenocerebellar syndrome (0)olivopontocerebellar atrophy II, autosomal recessive (0)Onychotrichodysplasia and neutropenia (0)ophthalmoplegia totalis with ptosis and miosis (0)ophthalmoplegic neuromuscular disorder with abnormal mitochondria (0)optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive (0)Opticocochleodentate degeneration (0)oral sensibility, disturbance of (0)osteodysplasty, precocious, of Danks, Mayne, and Kozlowski (0)osteoma of middle ear (0)osteomalacia, sclerosing, with cerebral calcification (0)PA polymorphism of alpha-2-globulin (0)palant cleft palate syndrome (0)pallidal degeneration, progressive, with retinitis pigmentosa (0)pancreatitis, sclerosing cholangitis, and sicca complex (0)Partington-Anderson syndrome (0)Pelger-Huet-like anomaly and episodic fever with abdominal pain (0)pellagra-like syndrome (0)pericardial effusion, chronic (0)peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain (0)peroneus tertius muscle, absence of (0)phenformin 4-hydroxylation (0)pituitary dwarfism with large sella turcica (0)plasma clot retraction factor, deficiency of (0)platelet prostacyclin receptor defect (0)pleoconial myopathy with salt craving (0)polycystic kidney, cataract, and congenital blindness (0)polymyoclonus, infantile (0)polysaccharide, storage of unusual (0)polyhydramnios, chronic idiopathic (0)Prepapillary vascular loops (0)prolactin deficiency, isolated (0)prolactin deficiency with obesity and enlarged testes (0)prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness (0)Pseudouridinuria and mental defect (0)pulmonary bullae causing pneumothorax (0)pulmonic stenosis and congenital nephrosis (0)Pygmy (0)radiculoneuropathy, fatal neonatal (0)red skin pigment anomaly of new guinea (0)Reese retinal dysplasia (0)renal and mullerian duct hypoplasia (0)respiratory underresponsiveness to hypoxia and hypercapnia (0)retinal degeneration and epilepsy (0)retinal telangiectasia and hypogammaglobulinemia (0)retinitis pigmentosa inversa with deafness (0)retinopathy, pigmentary, and intellectual disability (0)rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction (0)Rowley-Rosenberg syndrome (0)second metatarsal-metacarpal syndrome (0)senile plaque formation (0)short stature-obesity syndrome (0)Sjogren-Larsson-like ichthyosis without CNS or eye involvement (0)anosmia for butyl mercaptan (0)sodium-potassium-ATPase activity of red cell (0)ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability (0)spastic diplegia and intellectual disability (0)spastic paraplegia with myoclonic epilepsy (0)spastic pseudosclerosis (0)spinal muscular atrophy with intellectual disability (0)spinal muscular atrophy with microcephaly and mental subnormality (0)splenoportal vascular anomalies (0)sucrosuria, hiatus hernia and intellectual disability (0)syndesmodysplasic dwarfism (0)taurodontism (0)teeth, fused (0)testes, rudimentary (0)tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities (0)thalamic degeneration, symmetric infantile (0)thalidomide susceptibility (0)Threoninemia (0)thumb, distal hyperextensibility of (0)thymic aplasia with fetal death (0)thymoma, familial (0)tiglic acidemia (0)tibia, absence of, with congenital deafness (0)tongue, pigmented fungiform papillae of (0)Tryptophanuria with dwarfism (0)T-substance anomaly (0)Tyrosinosis (0)ulnar agenesis and endocardial fibroelastosis (0)Valinemia (0)van Bogaert-Hozay syndrome (0)vitiligo, progressive, with intellectual disability and urethral duplication (0)xylosidase deficiency (0)CGF1 (0)arthrogryposis, congenital, lower limb, X-linked (0)hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses (0)episodic muscle weakness, X-linked (0)radioulnar synostosis, radial ray abnormalities, and severe malformations in the male (0)radial ray deficiency, X-linked (0)coronary heart disease, susceptibility to, 3 (0)cataract, ataxia, short stature, and intellectual disability (0)deafness, cataract, retinitis pigmentosa, and sperm abnormalities (0)cardiomyopathy, fatal fetal, due to myocardial calcification (0)tubulin, beta (0)central incisors, absence of (0)Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita (0)Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined (0)cutis verticis gyrata, thyroid aplasia, and intellectual disability (0)inherited genitourinary tract anomalies (0)glutamyl ribose-5-phosphate storage disease (0)granulomas, congenital cerebral (0)hemopoietic proliferation (0)Hhhh syndrome (0)ichthyosis and male hypogonadism (0)immunoglobulin M, level of (0)impacted teeth, multiple (0)imprinting gene related to retinoblastoma (0)jaundice, familial obstructive, of infancy (0)Kallmann syndrome with spastic paraplegia (0)modifier, X-linked, for Neurofunctional defects (0)myelolymphatic insufficiency (0)nuclear ribonucleic acid (0)occipital hair, white lock of (0)omphalocele, X-linked (0)ophthalmoplegia, external, and myopia (0)optic atrophy--spastic paraplegia syndrome (0)ouabain resistance (0)Paine syndrome (0)radiation sensitivity of natural killer activity (0)reticuloendotheliosis, X-linked (0)spatial visualization, aptitude for (0)Taqi polymorphism (0)taurodontism, microdontia, and dens invaginatus (0)thrombocytopenia with elevated serum IgA and renal disease (0)thumbs, congenital Clasped (0)unique green phenomenon (0)widow's peak syndrome (0)XH antigen (0)hairy ears, Y-linked (0)ubiquitin-activating enzyme, Y-linked (0)hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial (0)chloramphenicol toxicity (0)nephropathy, chronic tubulointerstitial (0)pancreatic beta cell agenesis with neonatal diabetes mellitus (0)succinic acidemia (0)parotid salivary glands, polycystic dysgenetic disease of (0)enteropathy, familial, with villous edema and immunoglobulin G2 deficiency (0)pachydermodactyly, familial (0)angiokeratoma corporis diffusum with arteriovenous fistulas (0)pigment dispersion syndrome (0)setting-Sun phenomenon, familial benign (0)varicella, severe recurrent (0)proximal myopathy with focal depletion of mitochondria (0)dwarfism, familial, with muscle spasms (0)isoproterenol-mediated vasodilatation (0)mitochondrial import-stimulating factor (0)ectodermal dysplasia with intellectual disability and syndactyly (0)enamel hypoplasia, cataracts, and aqueductal stenosis (0)agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations (0)protocadherin 3 (0)portal vein, cavernous transformation of (0)midline malformations, multiple, with limb abnormalities and hypopituitarism (0)ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin (0)guanylate cyclase 2E (0)trisomy 18-like syndrome (0)muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers (0)myeloid tumor suppressor (0)epithelial basolateral chloride conductance regulator, rabbit, homolog of (0)atrophia maculosa varioliformis cutis, familial (0)spinal dysplasia, Anhalt type (0)Martinez-Frias syndrome (0)myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay (0)ectrodactyly of lower limbs, congenital heart defect, and micrognathia (0)lethal short-limb skeletal dysplasia, Al Gazali type (0)amelia cleft lip palate hydrocephalus iris coloboma (0)cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction (0)microcephaly, corpus callosum dysgenesis, and cleft lip/palate (0)anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis (0)patent ductus venosus (0)ribbing disease (0)microcephaly, retinitis pigmentosa, and sutural cataract (0)horns in sheep (0)spastic paraplegia and Evans syndrome (0)iris pigment epithelium anomalies (0)acute insulin response (0)sebaceous gland hyperplasia, familial presenile (0)superior transverse scapular ligament, calcification of, familial (0)folate level in erythrocytes (0)Spondylospinal thoracic dysostosis (0)vacuolar Neuromyopathy (0)sperm-specific antigen 1 (0)otofacioosseous-gonadal syndrome (0)hyperzincemia with functional zinc depletion (0)leishmaniasis, tegumentary, susceptibility to (0)broad terminal phalanges, familial (0)medium chain 3-ketoacyl-Coa thiolase deficiency (0)ventriculomegaly with defects of the radius and kidney (0)progeroid facial appearance with hand anomalies (0)mitochondrial intermembrane space protein Tim12, yeast, homolog of (0)sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth (0)Weyers ulnar ray/oligodactyly syndrome (0)creases, infra-auricular cutaneous, with tall stature and advanced bone age (0)pseudoacromegaly with severe insulin resistance (0)jejunal atresia with renal adysplasia (0)microcephaly, macrotia, and intellectual disability (0)facial dysmorphism, cleft palate, hearing loss, and camptodactyly (0)brachydactyly, intraventricular septal defect, and deafness (0)emphysema, congenital, with deafness, penoscrotal web, and intellectual disability (0)pancreatic lymphoma, familial (0)skeletal dysplasia and progressive central nervous system degeneration, lethal (0)intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration (0)bile duct cysts (0)tumor suppressor gene on chromosome 11 (0)spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal (0)apraxia of eyelid opening (0)dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability (0)Homocysteinemia (0)muscular dystrophy, congenital, with cerebellar atrophy (0)long chain fatty acids, defect in transport of (0)Osebold skeletal dysplasia/osteolysis syndrome (0)osteosclerotic chondrodysplasia, lethal, with intracellular inclusions (0)microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects (0)Tonoki syndrome (0)activator of liver function 1 (0)expansile bone lesions (0)Oroacral syndrome, Verloes-Koulischer type (0)Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin (0)light fixation seizure syndrome (0)microcephaly, facial abnormalities, micromelia, and intellectual disability (0)follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts (0)parotitis, juvenile recurrent (0)facial dysmorphism, selective tooth agenesis, and choroid calcification (0)osteoma of cranial vault, familial (0)neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia (0)atrial septal defect, secundum, with various cardiac and Noncardiac defects (0)exostosis, Dupuytren subungual (0)eccrine syringofibroadenomatosis with eyelid abnormalities (0)blue nevi, familial multiple (0)Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (0)urinary tract infections, recurrent, susceptibility to (0)Caronte (0)cholesteatoma, congenital (0)Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly (0)camera-Marugo-Cohen syndrome (0)Ascaris lumbricoides infection, susceptibility to (0)anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome (0)myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders (0)ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia (0)lissencephaly, familial, with cleft palate and cerebellar hypoplasia (0)growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia (0)polycystic bone disease (0)mandibulofacial dysostosis syndrome, Bauru type (0)hyaluronan metabolism, defect 1N (0)diabetes mellitus, congenital autoimmune (0)low density lipoprotein cholesterol, mild elevation of (0)clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia (0)tricuspid atresia (0)early response to neural induction gene (0)frontoocular syndrome (0)fibromatosis, gingival, with hypertrichosis and intellectual disability (0)tetralogy of fallot syndrome, autosomal recessive (0)anisomastia (0)ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis (0)short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting (0)arthropathy, erosive (0)liver fibrocystic disease and polydactyly (0)crumpled helices and small mouth (0)acromegaloid features, overgrowth, cleft palate, and hernia (0)Sener syndrome (0)baculum, congenital absence of (0)carnitine acetyltransferase deficiency (0)laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy (0)intellectual disability, short stature, facial anomalies, and joint dislocations (0)intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism (0)Megarbane syndrome (0)polysubstance abuse, susceptibility to (0)peripheral arterial occlusive disease 1 (0)anorexia nervosa, susceptibility to, 1 (0)stroke, susceptibility to, 1 (0)parasomnia, sleep bruxism type (0)Cardioneuromyopathy with hyaline masses and nemaline rods (0)Cree intellectual disability syndrome (0)