This list of
rare diseases was originally taken from the
NIH public domain resource at
http://ord.aspensys.com/diseases.asp .
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
- Hageman factor deficiency[?]
- Hagemoser Weinstein Bresnick syndrome[?]
- Hailey-Hailey disease[?]
- Hair defect with photosensitivity and mental retardation[?]
- Hairy cell leukemia[?]
- Hairy ears, y-linked[?]
- Hairy ears[?]
- Hairy nose tip[?]
- Hairy palms and soles[?]
- Hairy tongue[?]
- Hajdu-Cheney syndrome[?]
- Halal Setton Wang syndrome[?]
- Halal syndrome[?]
- Hall Riggs mental retardation syndrome[?]
- Hallermann Streiff Francois syndrome[?]
- Hallervorden-Spatz disease[?]
- Hamanishi Ueba Tsuji syndrome[?]
- Hamano Tsukamoto syndrome[?]
- Hamartoma sebaceus of Jadassohn[?]
- Hand and foot deformity flat facies[?]
- Hand foot uterus syndrome[?]
- Hand wringing Rett syndrome[?]
- Hand-foot-mouth disease[?]
- Hand-Schuller-Christian disease[?]
- Hanhart syndrome[?]
- Hantavirosis[?]
- Hantavirus pulmonary syndrome[?]
- Hapnes Boman Skeie syndrome[?]
- Hard skin syndrome Parana type[?]
- HARD syndrome[?]
- Harding ataxia[?]
- Harlequin type ichthyosis[?]
- Harpaxophobia[?]
- Harrod Doman Keele syndrome[?]
- Hartnup disease[?]
- Hartsfield Bixler Demyer syndrome[?]
- Hashimoto struma[?]
- Hashimoto-Pritzker syndrome[?]
- Hashimoto's syndrome[?]
- Haspeslagh Fryns Muelenaere syndrome[?]
- Hay Wells syndrome recessive type[?]
- Hay-Wells syndrome[?]
- Headache, cluster[?]
- Hearing disorder[?]
- Hearing impairment
- Hearing loss[?]
- Heart aneurysm[?]
- Heart block progressive, familial[?]
- Heart block[?]
- Heart defect round face congenital retarded development[?]
- Heart defect tongue hamartoma polysyndactyly[?]
- Heart defects limb shortening[?]
- Heart hand syndrome Spanish type[?]
- Heart hypertrophy, hereditary[?]
- Heart situs anomaly[?]
- Heart tumor of the adult[?]
- Heart tumor of the child[?]
- Heavy metal poisoning[?]
- Hec syndrome[?]
- Hecht Scott syndrome[?]
- Heckenlively syndrome[?]
- Heide syndrome[?]
- Heliophobia[?]
- HELLP syndrome[?]
- Helmerhorst Heaton Crossen syndrome[?]
- Helminthiasis[?]
- HEM dysplasia[?]
- Hemangioblastoma[?]
- Hemangioendothelioma[?]
- Hemangioma thrombocytopenia syndrome[?]
- Hemangioma, capillary infantile[?]
- Hemangioma[?]
- Hemangiomatosis, familial pulmonary capillary[?]
- Hemangiopericytoma[?]
- Hemeralopia, congenital essential[?]
- Hemeralopia, familial[?]
- Hemi 3 syndrome[?]
- Hemifacial atrophy agenesis of the caudate nucleus[?]
- Hemifacial atrophy progressive[?]
- Hemifacial hyperplasia strabismus[?]
- Hemifacial microsomia[?]
- Hemihypertrophy in context of NF[?]
- Hemihypertrophy intestinal web corneal opacity[?]
- Hemimegalencephaly[?]
- Hemiplegia[?]
- Hemiplegic migraine, familial[?]
- Hemoglobin C disease[?]
- Hemoglobin E disease[?]
- Hemoglobin SC disease[?]
- Hemoglobinopathy
- Hemoglobinuria[?]
- Hemolytic anemia lethal genital anomalies[?]
- Hemolytic-uremic syndrome[?]
- Hemophagocytic lymphohistiocytosis[?]
- Hemophagocytic reticulosis[?]
- Hemophilia A
- Hemophilic arthropathy[?]
- Hemophobia[?]
- Hemorragic fever with renal syndrome[?]
- Hemorrhagic fever[?]
- Hemorrhagic proctocolitis[?]
- Hemorrhagic thrombocythemia[?]
- Hemorrhagiparous thrombocytic dystrophy[?]
- Hemosiderosis[?]
- Hennekam Beemer syndrome[?]
- Hennekam Koss de Geest syndrome[?]
- Hennekam syndrome[?]
- Hennekam Van der Horst syndrome[?]
- Hepadnovirus D[?]
- Heparane sulfamidase deficiency[?]
- Heparin-induced thrombopenia[?]
- Hepatic cystic hamartoma[?]
- Hepatic ductular hypoplasia[?]
- Hepatic fibrosis renal cysts mental retardation[?]
- Hepatic fibrosis[?]
- Hepatic venoocclusive disease[?]
- Hepatic veno-occlusive disease[?]
- Hepatitis A[?]
- Hepatitis B
- Hepatitis C
- Hepatitis D
- Hepatitis non-A non-B[?]
- Hepatitis non-A[?]
- Hepatitis non-B[?]
- Hepatitis, chronic autoimmune[?]
- Hepatitis
- Hepatoblastoma[?]
- Hepatocellular carcinoma
- Hepatorenal syndrome[?]
- Hepatorenal tyrosinemia[?]
- Hereditary amyloidosis[?]
- Hereditary angioedema[?]
- Hereditary ataxia[?]
- Hereditary carnitine deficiency myopathy[?]
- Hereditary carnitine deficiency syndrome[?]
- Hereditary carnitine deficiency[?]
- Hereditary ceroid-lipofuscinosis[?]
- Hereditary coproporphyria[?]
- Hereditary deafness[?]
- Hereditary elliptocytosis[?]
- Hereditary fructose intolerance[?]
- Hereditary hearing disorder[?]
- Hereditary hearing loss[?]
- Hereditary hemochromatosis[?]
- Hereditary hemorrhagic telangiectasia[?]
- Hereditary hyperuricemia[?]
- Hereditary macrothrombocytopenia[?]
- Hereditary methemoglobinemia, recessive[?]
- Hereditary myopathy with intranuclear filamentous [?]
- Hereditary nodular heterotopia[?]
- Hereditary non-spherocytic hemolytic anemia[?]
- Hereditary pancreatitis[?]
- Hereditary paroxysmal cerebral ataxia[?]
- Hereditary peripheral nervous disorder[?]
- Hereditary primary Fanconi disease[?]
- Hereditary resistance to anti-vitamin K[?]
- Hereditary sensory and autonomic neuropathy 3[?]
- Hereditary sensory and autonomic neuropathy 4[?]
- Hereditary sensory neuropathy type I[?]
- Hereditary sensory neuropathy type II[?]
- Hereditary spastic paraplegia
- Hereditary spherocytic hemolytic anemia[?]
- Hereditary spherocytosis[?]
- Hereditary type 1 neuropathy[?]
- Hereditary type 2 neuropathy[?]
- Hermansky-Pudlak syndrome[?]
- Hermaphroditism[?]
- Hernandez Aguire Negrete syndrome[?]
- Herpes encephalitis[?]
- Herpes simplex disease[?]
- Herpes simplex encephalitis[?]
- Herpes viridae disease[?]
- Herpes virus antenatal infection[?]
- Herpes zoster oticus[?]
- Herpes zoster[?]
- Herpesvirus simiae B virus[?]
- Herpetic embryopathy[?]
- Herpetic keratitis[?]
- Herpetophobia[?]
- Herrmann Opitz arthrogryposis syndrome[?]
- Herrmann Opitz craniosynostosis[?]
- Hers disease[?]
- Hersh Podruch Weisskopk syndrome[?]
- Heterophobia
- Heterotaxia (generic term)[?]
- Heterotaxia autosomal dominant type[?]
- Heterotaxy with polysplenia or asplenia[?]
- Heterotaxy, visceral, X-linked[?]
- Hexosaminidases A and B deficiency[?]
- HHH syndrome[?]
- Hibernian fever, familial[?]
- Hiccups[?]
- Hidradenitis suppurativa familial[?]
- Hidradenitis suppurativa[?]
- Hidrotic ectodermal dysplasia type Christianson Fouris[?]
- High scapula[?]
- High-molecular-weight kininogen deficiency, congenital[?]
- Hillig syndrome[?]
- Hing Torack Dowston syndrome[?]
- Hinson-Pepys disease[?]
- Hip dislocation[?]
- Hip dysplasia Beukes type[?]
- Hip Dysplasia[?]
- Hip luxation[?]
- Hip subluxation[?]
- Hipo syndrome[?]
- Hirschsprung disease ganglioneuroblastoma[?]
- Hirschsprung disease polydactyly heart disease[?]
- Hirschsprung disease type 2[?]
- Hirschsprung disease type 3[?]
- Hirschsprung disease type d brachydactyly[?]
- Hirschsprung microcephaly cleft palate[?]
- Hirschsprung nail hypoplasia dysmorphism[?]
- Hirschsprung's disease[?]
- Hirsutism congenital gingival hyperplasia[?]
- Hirsutism skeletal dysplasia mental retardation[?]
- His bundle tachycardia[?]
- Histidinemia[?]
- Histidinuria renal tubular defect[?]
- Histiocytosis X[?]
- Histiocytosis, Non-Langerhans-Cell[?]
- Hittner Hirsch Kreh syndrome[?]
- Hm syndrome[?]
- HMG CoA lyase deficiency[?]
- HMG CoA synthetase deficiency[?]
- Hodgkin lymphoma[?]
- Hodgkin's disease
- Hodophobia[?]
- Hoepffner Dreyer Reimers syndrome[?]
- Hollow visceral myopathy[?]
- Holmes Benacerraf syndrome[?]
- Holmes Borden syndrome[?]
- Holmes Collins syndrome[?]
- Holmes Gang syndrome[?]
- Holoacardius amorphus[?]
- Holocarboxylase synthetase deficiency[?]
- Holoprosencephaly caudal dysgenesis[?]
- Holoprosencephaly deletion 2p[?]
- Holoprosencephaly ectrodactyly cleft lip palate[?]
- Holoprosencephaly radial heart renal anomalies[?]
- Holoprosencephaly
- Holt-Oram syndrome[?]
- Holzgreve Wagner Rehder syndrome[?]
- Homocarnosinase deficiency[?]
- Homocarnosinosis[?]
- Homocystinuria due to cystathionine beta-synthase [?]
- Homocystinuria due to defect in methylation (cbl g)[?]
- Homocystinuria due to defect in methylation cbl e[?]
- Homocystinuria due to defect in methylation, MTHFR deficiency[?]
- Homocystinuria[?]
- Homologous wasting disease[?]
- Homozygous hypobetalipoproteinemia[?]
- Hoon Hall syndrome[?]
- Hordnes Engebretsen Knudtson syndrome[?]
- Horn Kolb syndrome[?]
- Horner's syndrome[?]
- Hornova Dlurosova syndrome[?]
- Horseshoe kidney[?]
- Horton disease, juvenile[?]
- Horton disease[?]
- Houlston Ironton Temple syndrome[?]
- Howard Young syndrome[?]
- Howell-Evans syndrome[?]
- Hoyeraal Hreidarsson syndrome[?]
- Hoyeraal syndrome[?]
- HSV-2 infection[?]
- Human granulocytic ehrlichiosis[?]
- Human monocytic ehrlichiosis[?]
- Human parvovirus B19 infection[?]
- Humero spinal dysostosis congenital heart disease[?]
- Humeroradial synostosis[?]
- Humeroradioulnar synostosis[?]
- Humerus trochlea aplasia of[?]
- Hunter Carpenter Mc donald syndrome[?]
- Hunter Jurenka Thompson syndrome[?]
- Hunter Macpherson syndrome[?]
- Hunter Mcalpine syndrome[?]
- Hunter Mcdonald syndrome[?]
- Hunter Rudd Hoffmann syndrome[?]
- Hunter syndrome[?]
- Huntington's disease
- Huriez scleroatrophic syndrome[?]
- Hurler syndrome[?]
- Hurst Hallam Hockey syndrome[?]
- Hutchinson Gilford Progeria Syndrome
- Hutchinson incisors[?]
- Hutchinson-Gilford syndrome
- Hutteroth Spranger syndrome[?]
- Hyalinosis systemic short stature[?]
- Hyaloideoretinal degeneration of wagner[?]
- Hydantoin antenatal infection[?]
- Hydatidosis[?]
- Hyde Forster Mccarthy Berry syndrome[?]
- Hydranencephaly
- Hydrocephalus - Arnold Chiari - allied disorders[?]
- Hydrocephalus autosomal recessive[?]
- Hydrocephalus costovertebral dysplasia Sprengel anomaly[?]
- Hydrocephalus craniosynostosis bifid nose[?]
- Hydrocephalus endocardial fibroelastosis cataract[?]
- Hydrocephalus growth retardation skeletal anomalies[?]
- Hydrocephalus obesity hypogonadism[?]
- Hydrocephalus skeletal anomalies[?]
- Hydrocephalus
- Hydrocephaly corpus callosum agenesis diaphragmatic hernia[?]
- Hydrocephaly low insertion umbilicus[?]
- Hydrocephaly tall stature joint laxity[?]
- Hydrolethalus syndrome[?]
- Hydronephrosis congenital[?]
- Hydronephrosis peculiar facial expression[?]
- Hydrophobia
- Hydrops ectrodactyly syndactyly[?]
- Hydrops fetalis anemia immune disorder absent thumb[?]
- Hydrops fetalis[?]
- Hydroxycarboxylic aciduria[?]
- Hydroxymethylglutaricaciduria[?]
- Hygroma cervical[?]
- Hymenolepiasis[?]
- Hyper IgE[?]
- Hyper IgM syndrome[?]
- Hyperadrenalism[?]
- Hyperaldosteronism familial type 2[?]
- Hyperaldosteronism, familial type 1[?]
- Hyperaldosteronism[?]
- Hyperammonemia[?]
- Hyperandrogenism[?]
- Hyperbilirubinemia transient familial neonatal[?]
- Hyperbilirubinemia type 1[?]
- Hyperbilirubinemia type 2[?]
- Hyperbilirubinemia[?]
- Hypercalcemia, familial benign type 1[?]
- Hypercalcemia, familial benign type 2[?]
- Hypercalcemia, familial benign type 3[?]
- Hypercalcemia, familial benign[?]
- Hypercalcemia[?]
- Hypercalcinuria idiopathic[?]
- Hypercalcinuria macular coloboma[?]
- Hypercalcinuria[?]
- Hypercementosis[?]
- Hypercholesterolemia due to arg3500 mutation of Apo B-100[?]
- Hypercholesterolemia due to LDL receptor deficiency[?]
- Hypercholesterolemia[?]
- Hyperchylomicronemia[?]
- Hypereosinophilic syndrome[?]
- Hyperexplexia[?]
- Hyperferritinemia, hereditary, with congenital cataracts[?]
- Hyperglycerolemia[?]
- Hyperglycinemia, isolated nonketotic type 1[?]
- Hyperglycinemia, isolated nonketotic type 2[?]
- Hyperglycinemia, isolated nonketotic[?]
- Hyperglycinemia[?]
- Hypergonadotropic ovarian failure, familial or sporadic[?]
- Hyperhidrosis[?]
- Hyperhomocysteinemia[?]
- Hyper-IgD syndrome[?]
- Hyperimidodipeptiduria[?]
- Hyperimmunoglobinemia D with recurrent fever[?]
- Hyperimmunoglobulin E - reccurrent infection syndrome[?]
- Hyperimmunoglobulinemia D with periodic fever[?]
- Hyperimmunoglobulinemia E[?]
- Hyperinsulinism due to focal adenomatous hyperplasia[?]
- Hyperinsulinism due to glucokinase deficiency[?]
- Hyperinsulinism due to glutamodehydrogenase deficiency[?]
- Hyperinsulinism in children, congenital[?]
- Hyperinsulinism, diffuse[?]
- Hyperinsulinism, focal[?]
- Hyperkalemia[?]
- Hyperkalemic periodic paralysis[?]
- Hyperkeratosis lenticularis perstans of Flegel[?]
- Hyperkeratosis lenticularis perstans[?]
- Hyperkeratosis palmoplantar localized acanthokeratolytic[?]
- Hyperkeratosis palmoplantar localized epidermolytic[?]
- Hyperkeratosis palmoplantar with palmar crease hyperkeratosis[?]
- Hyperlipoproteinemia type I[?]
- Hyperlipoproteinemia type II[?]
- Hyperlipoproteinemia type III[?]
- Hyperlipoproteinemia type V[?]
- Hyperlipoproteinemia[?]
- Hyperlysinemia[?]
- Hyperornithinemia[?]
- Hyperornithinemia-hyperammonemia-homocitrullinuria[?]
- Hyperostosid corticalis deformans juvenilis[?]
- Hyperostosis cortical infantile[?]
- Hyperostosis corticalis generalisata[?]
- Hyperostosis frontalis interna[?]
- Hyperoxaluria type 1[?]
- Hyperoxaluria type 2[?]
- Hyperoxaluria[?]
- Hyperparathyroidism, familial, primary[?]
- Hyperparathyroidism, neonatal severe primary[?]
- Hyperparathyroidism[?]
- Hyperphalangism dysmorphy bronchomalacia[?]
- Hyperphenilalaninemia due to pterin-4-alpha-carbin[?]
- Hyperphenylalalinemia due to dihydropteridine reductase deficiency[?]
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydrop[?]
- Hyperphenylalaninemia due to dehydratase deficiency[?]
- Hyperphenylalaninemia due to GTP cyclohydrolase deficiency[?]
- Hyperphenylalaninemic embryopathy[?]
- Hyperpipecolatemia[?]
- Hyperprolactinemia[?]
- Hyperprolinemia type II[?]
- Hyperprolinemia[?]
- Hyperreflexia[?]
- Hyper-reninism[?]
- Hypersomnolence[?]
- Hypertelorism and tetralogy of Fallot[?]
- Hypertelorism hypospadias syndrome[?]
- Hypertension
- Hypertensive hyperkalemia, familial[?]
- Hypertensive hypokalemia familial[?]
- Hypertensive retinopathy
- Hyperthermia induced defects[?]
- Hyperthermia
- Hyperthyroidism due to mutations in TSH receptor[?]
- Hypertrichosis atrophic skin ectropion macrostomia[?]
- Hypertrichosis brachydactyly obesity and mental retardation[?]
- Hypertrichosis congenital generalized X linked[?]
- Hypertrichosis lanuginosa congenita[?]
- Hypertrichosis lanuginosa, acquired[?]
- Hypertrichosis retinopathy dysmorphism[?]
- Hypertrichosis, anterior cervical[?]
- Hypertrichotic osteochondrodysplasia[?]
- Hypertriglycidemia[?]
- Hypertrophic branchial myopathy[?]
- Hypertrophic cardiomyopathy[?]
- Hypertrophic hemangiectasia[?]
- Hypertrophic myocardiopathy[?]
- Hypertrophic osteoarthropathy, primary or idiopathic[?]
- Hypertropic neuropathy of Dejerine-Sottas[?]
- Hypertryptophanemia[?]
- Hypoadrenalism[?]
- Hypoadrenocorticism hypoparathyroidism moniliasis[?]
- Hypoaldosteronism[?]
- Hypo-alphalipoproteinemia primary[?]
- Hypobetalipoproteinaemia ataxia hearing loss[?]
- Hypobetalipoprotéinemia, familial[?]
- Hypocalcemia, autosomal dominant[?]
- Hypocalcemia[?]
- Hypocalcinuric hypercalcemia, familial type 1[?]
- Hypocalcinuric hypercalcemia, familial type 2[?]
- Hypocalcinuric hypercalcemia, familial type 3[?]
- Hypocalcinuric hypercalcemia, familial[?]
- Hypochondrogenesis[?]
- Hypochondroplasia[?]
- Hypocomplementemic urticarial vasculitis[?]
- Hypodermyasis[?]
- Hypodontia dysplasia of nails[?]
- Hypodontia of incisors and premolars[?]
- Hypofibrinogenemia, familial[?]
- Hypoglycemia with deficiency of glycogen synthetase in the liver[?]
- Hypoglycemia
- Hypogonadism cardiomyopathy[?]
- Hypogonadism hypogonadotropic due to mutations in GR hormone[?]
- Hypogonadism male mental retardation skeletal anomaly[?]
- Hypogonadism mitral valve prolapse mental retardation[?]
- Hypogonadism primary partial alopecia[?]
- Hypogonadism retinitis pigmentosa[?]
- Hypogonadism, isolated, hypogonadotropic[?]
- Hypogonadism[?]
- Hypogonadotropic hypogonadism syndactyly[?]
- Hypogonadotropic hypogonadism without anosmia, X linked[?]
- Hypogonadotropic hypogonadism-anosmia, X linked[?]
- Hypogonadotropic hypogonadism-anosmia[?]
- Hypohidrotic Ectodermal Dysplasia[?]
- Hypokalemia[?]
- Hypokalemic alkalosis with hypercalcinuria[?]
- Hypokalemic periodic paralysis[?]
- Hypokaliemic periodic paralysis type 1[?]
- Hypoketonemic hypoglycemia[?]
- Hypolipoproteinemia[?]
- Hypomagnesemia primary[?]
- Hypomandibular faciocranial dysostosis[?]
- Hypomelanotic disorder[?]
- Hypomelia mullerian duct anomalies[?]
- Hypomentia[?]
- Hypoparathyroidism familial isolated[?]
- Hypoparathyroidism nerve deafness nephrosis[?]
- Hypoparathyroidism short stature mental retardation[?]
- Hypoparathyroidism short stature[?]
- Hypoparathyroidism X linked[?]
- Hypoparathyroidism[?]
- Hypophosphatasia, infantile[?]
- Hypophosphatasia[?]
- Hypophosphatemic rickets[?]
- Hypopigmentation oculocerebral syndrome Cross type[?]
- Hypopituitarism micropenis cleft lip palate[?]
- Hypopituitarism postaxial polydactyly[?]
- Hypopituitarism[?]
- Hypopituitary dwarfism[?]
- Hypoplasia hepatic ductular[?]
- Hypoplasia of the tibia with polydactyly[?]
- Hypoplastic left heart syndrome[?]
- Hypoplastic right heart microcephaly[?]
- Hypoplastic thumb mullerian aplasia[?]
- Hypoplastic thumbs hydranencephaly[?]
- Hypoproconvertinemia[?]
- Hypoprothrombinemia[?]
- Hyporeninemic hypoaldosteronism[?]
- Hyposmia nasal hypoplasia hypogonadism[?]
- Hypospadias familial[?]
- Hypospadias mental retardation Goldblatt type[?]
- Hypotelorism cleft palate hypospadias[?]
- Hypothalamic dysfunction[?]
- Hypothalamic hamartoblastoma syndrome[?]
- Hypothalamic hamartomas[?]
- Hypothermia
- Hypothyroidism due to iodide transport defect[?]
- Hypothyroidism postaxial polydactyly mental retardation[?]
- Hypothyroidism
- Hypotonic sclerotic muscular dystrophy[?]
- Hypotrichosis mental retardation Lopes type[?]
- Hypotrichosis[?]
- Hypoxanthine guanine phosphoribosyltransferase deficiency[?]
- Hypoxia