This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/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