List of rare diseases starting with H

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