Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
-
Haemophilus influenzae
-
Hagemoser Weinstein Bresnick syndrome
-
Hailey Hailey disease
-
Haim-Munk syndrome
-
Hair defect with photosensitivity and mental retardation
-
HAIR-AN syndrome
-
Hairy cell leukemia
-
Hairy elbows
-
Hairy nose tip
-
Hairy palms and soles
-
Hairy tongue
-
Hajdu-Cheney syndrome
-
Halal Setton Wang syndrome
-
Halal syndrome
-
Hall Riggs mental retardation syndrome
-
Hallervorden-Spatz disease
-
Halo nevi
-
Hamanishi Ueba Tsuji syndrome
-
Hamano Tsukamoto syndrome
-
Hand and foot deformity with flat facies
-
Hand foot uterus syndrome
-
Hand-Schuller-Christian disease
-
Hanhart syndrome
-
Hantavirosis
-
Hantavirus pulmonary syndrome
-
Hard skin syndrome Parana type
-
HARD syndrome
-
Hardikar syndrome
-
Harding ataxia
-
Harlequin ichthyosis
-
Harlequin syndrome
-
Harrod Doman Keele syndrome
-
Hartnup disease
-
Hashimoto-Pritzker syndrome
-
Hashimoto's encephalitis
-
Hashimoto's syndrome
-
Haspeslagh Fryns Muelenaere syndrome
-
Hawkinsinuria
-
Hay Wells syndrome recessive type
-
Hay-Wells syndrome
-
Heart block progressive, familial
-
Heart defect, tongue hamartoma and polysyndactyly
-
Heart defects limb shortening
-
Heart tumor
-
Heart-hand syndrome, Slovenian type
-
Heart-hand syndrome,Spanish type
-
Heavy metal poisoning
-
HEC syndrome
-
Hecht Scott syndrome
-
Hecht syndrome
-
HELLP syndrome
-
Helminthiasis
-
HEM dysplasia
-
Hemangioblastoma
-
Hemangioendothelioma
-
Hemangioma thrombocytopenia syndrome
-
Hemangioma, capillary infantile
-
Hemangiomatosis, familial pulmonary capillary
-
Hemangiopericytoma
-
Hemeralopia, congenital essential
-
Hemeralopia, familial
-
Hemi 3 syndrome
-
Hemifacial atrophy agenesis of the caudate nucleus
-
Hemifacial hyperplasia strabismus
-
Hemifacial myohyperplasia
-
Hemihypertrophy in context of NF
-
Hemihypertrophy intestinal web corneal opacity
-
Hemimegalencephaly
-
Hemiplegia
-
Hemiplegic migraine, familial type 1
-
Hemiplegic migraine, familial type 2
-
Hemochromatosis, type 2
-
Hemochromatosis, type 3
-
Hemochromatosis, type 4
-
Hemoglobin C disease
-
Hemoglobin E disease
-
Hemoglobin SC disease
-
Hemoglobin sickle-beta thalassemia
-
Hemoglobin Zurich
-
Hemoglobinemia
-
Hemoglobinopathy
-
Hemoglobinuria
-
Hemolytic anemia lethal genital anomalies
-
Hemolytic uremic syndrome, atypical, childhood
-
Hemolytic-uremic syndrome
-
Hemophagocytic lymphohistiocytosis
-
Hemophagocytic lymphohistiocytosis, familial, 2
-
Hemophagocytic lymphohistiocytosis, familial, 3
-
Hemophagocytic lymphohistiocytosis, familial, 4
-
Hemophagocytic reticulosis
-
Hemophilia A, acquired
-
Hemophilia A, congenital
-
Hemophilia B
-
Hemophilic arthropathy
-
Hemorrhagic fever
-
Hemorrhagic proctocolitis
-
Hemorrhagic shock and encephalopathy syndrome
-
Hemorrhagic thrombocythemia
-
Hemorrhagiparous thrombocytic dystrophy
-
Hemosiderosis
-
Hennekam Beemer syndrome
-
Hennekam Koss de Geest syndrome
-
Hennekam lymphangiectasia lymphedema syndrome
-
Hennekam syndrome
-
Hennekam Van der Horst syndrome
-
Henoch-Schonlein purpura
-
Hepadnavirus infection
-
Heparane sulfamidase deficiency
-
Heparin induced thrombocytopenia
-
Hepatic cystic hamartoma
-
Hepatic fibrosis
-
Hepatic fibrosis renal cysts mental retardation
-
Hepatic venoocclusive disease
-
Hepatic venoocclusive disease with immunodeficiency
-
Hepatitis E
-
Hepatitis X (non-A,-B,-C,-D,-E)
-
Hepatoblastoma
-
Hepatocellular carcinoma
-
Hepatocellular carcinoma (fibrolamellar variant)
-
Hepatocellular carcinoma, childhood
-
Hepatoerythropoietic porphyria
-
Hepatorenal syndrome
-
Hereditary amyloidosis
-
Hereditary angioedema
-
Hereditary ataxia
-
Hereditary carnitine deficiency
-
Hereditary cerebellar ataxia syndrome of early onset
-
Hereditary cerebral hemorrhage with amyloidosis
-
Hereditary deafness
-
Hereditary elliptocytosis
-
Hereditary fructose intolerance
-
Hereditary hearing disorder
-
Hereditary hearing loss
-
Hereditary hemorrhagic telangiectasia
-
Hereditary hyperuricemia
-
Hereditary koilonychia
-
Hereditary macrothrombocytopenia
-
Hereditary methemoglobinemia, recessive
-
Hereditary myopathy with intranuclear filamentous
-
Hereditary nodular heterotopia
-
Hereditary nonpolyposis colon cancer
-
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 type 2
-
Hereditary sensory neuropathy type 2
-
Hereditary spastic paralysis, infantile onset ascending
-
Hereditary spastic paraplegia
-
Hereditary spherocytic hemolytic anemia
-
Hereditary spherocytosis
-
Hereditary type 1 neuropathy
-
Hereditary type 2 neuropathy
-
Hermansky Pudlak syndrome 2
-
Hermansky-Pudlak syndrome
-
Hermaphroditism
-
Herpes simiae (B virus)
-
Herpes simplex encephalitis
-
Herpes virus antenatal infection
-
Herpes zoster ophthalmicus
-
Herpesvirus simiae B virus
-
Herpetic embryopathy
-
Herpetic keratitis
-
Herrmann Opitz arthrogryposis syndrome
-
Herrmann Opitz craniosynostosis
-
Herrmann syndrome
-
Hersh Podruch Weisskopk syndrome
-
Heterochromia iridis
-
Heterotaxia autosomal dominant type
-
Heterotaxy with polysplenia or asplenia
-
Heterotaxy, visceral, X-linked
-
HHV-6 encephalitis
-
Hiccups, intractable
-
Hidradenitis suppurativa, familial
-
High-molecular-weight kininogen deficiency, congenital
-
Hillig syndrome
-
Hing Torack Dowston syndrome
-
Hinson-Pepys disease
-
Hip dislocation
-
Hip Dysplasia
-
Hip dysplasia Beukes type
-
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 with joint contractures and sensorineural deafness
-
Histiocytosis X
-
Histiocytosis, Non-Langerhans-Cell
-
Hittner Hirsch Kreh syndrome
-
Hm syndrome
-
HMG CoA lyase deficiency
-
HMG CoA synthetase deficiency
-
Ho Kaufman Mcalister syndrome
-
Hodgkin disease, X-linked pseudoautosomal
-
Hodgkin lymphoma, adult
-
Hodgkin lymphoma, childhood
-
Hodgkin lymphoma, during pregnancy
-
Hodgkin's disease
-
Hollow visceral myopathy
-
Holmes Borden syndrome
-
Holmes Collins syndrome
-
Holoacardius amorphus
-
Holocarboxylase synthetase deficiency
-
Holoprosencephaly
-
Holoprosencephaly caudal dysgenesis
-
Holoprosencephaly deletion 2p
-
Holoprosencephaly ectrodactyly cleft lip palate
-
Holoprosencephaly radial heart renal anomalies
-
Holoprosencephaly, recurrent infections, and monocytosis
-
Holt-Oram syndrome
-
Holzgreve Wagner Rehder syndrome
-
Homocarnosinosis
-
Homocystinuria
-
Homocystinuria due to defect in methylation (cbl g)
-
Homocystinuria due to defect in methylation cbl e
-
Homologous wasting disease
-
Homozygous hypobetalipoproteinemia
-
Hooft disease
-
Hoon Hall syndrome
-
Hordnes Engebretsen Knudtson syndrome
-
Horn Kolb syndrome
-
Horner's syndrome
-
Hornova Dlurosova syndrome
-
Horseshoe kidney
-
Horton’s disease
-
Houlston Ironton Temple syndrome
-
Howard Young syndrome
-
Hoyeraal Hreidarsson syndrome
-
Hoyeraal syndrome
-
Human granulocytic ehrlichiosis
-
Human monocytic ehrlichiosis
-
Human parvovirus B19 infection
-
Human spumaretrovirus infection
-
Human T Cell Leukemia Virus 1
-
Human T-cell leukemia viruses type 2
-
Human T-lymphotropic virus type 3
-
Humeroradial synostosis
-
Humeroradioulnar synostosis
-
Humerus trochlea aplasia of
-
Hunter Carpenter Macdonald syndrome
-
Hunter Jurenka Thompson syndrome
-
Hunter Macpherson syndrome
-
Hunter Mcdonald syndrome
-
Hunter Rudd Hoffmann syndrome
-
Hunter-McAlpine syndrome
-
Huntington disease
-
Hurst Hallam Hockey syndrome
-
Hutchinson Gilford progeria syndrome
-
Hutchinson incisors
-
Hutterite cerebroosteonephrodysplasia syndrome
-
Hutteroth Spranger syndrome
-
Hyalinosis systemic short stature
-
Hyaloideoretinal degeneration of Wagner
-
Hydatidosis
-
Hyde Forster Mccarthy Berry syndrome
-
Hydranencephaly
-
Hydroa vacciniforme
-
Hydroa vacciniforme, familial
-
Hydrocephalus
-
Hydrocephalus autosomal recessive
-
Hydrocephalus costovertebral dysplasia Sprengel anomaly
-
Hydrocephalus craniosynostosis bifid nose
-
Hydrocephalus due to congenital stenosis of aqueduct of sylvius
-
Hydrocephalus endocardial fibroelastosis cataract
-
Hydrocephalus growth retardation skeletal anomalies
-
Hydrocephalus obesity hypogonadism
-
Hydrocephalus skeletal anomalies
-
Hydrocephaly corpus callosum agenesis diaphragmatic hernia
-
Hydrocephaly low insertion umbilicus
-
Hydrocephaly tall stature joint laxity
-
Hydrolethalus syndrome
-
Hydronephrosis congenital
-
Hydronephrosis peculiar facial expression
-
Hydrops ectrodactyly syndactyly
-
Hydrops fetalis
-
Hydrops fetalis anemia immune disorder absent thumb
-
Hydroxycarboxylic aciduria
-
Hydroxykynureninuria
-
Hygroma cervical
-
Hymenolepiasis
-
Hyper IgE
-
Hyper IgM syndrome
-
Hyperacusis
-
Hyperadrenalism
-
Hyperaldosteronism
-
Hyperaldosteronism familial type 2
-
Hyperaldosteronism, familial type 1
-
Hyperammonemia
-
Hyperandrogenism
-
Hyperbilirubinemia transient familial neonatal
-
Hyperbilirubinemia type 1
-
Hyperbilirubinemia type 2
-
Hypercalcinuria macular coloboma
-
Hypercalciuria, childhood idiopathic
-
Hypercementosis
-
Hypercholesterolemia, autosomal dominant
-
Hypercholesterolemia, autosomal dominant, type B
-
Hyperchylomicronemia
-
Hypereosinophilic syndrome
-
Hyperexplexia hereditary
-
Hyperferritinemia, hereditary, with congenital cataracts
-
Hyperglycerolemia
-
Hyperglycinemia, isolated nonketotic
-
Hyperglycinemia, isolated nonketotic type 1
-
Hyperglycinemia, isolated nonketotic type 2
-
Hypergonadotropic ovarian failure, familial or sporadic
-
Hyperhomocysteinemia
-
Hyper-IgD syndrome
-
Hyperimidodipeptiduria
-
Hyperimmunoglobinemia D with recurrent fever
-
Hyperimmunoglobulin E - reccurrent infection syndrome
-
Hyperimmunoglobulinemia D with periodic fever
-
Hyperimmunoglobulinemia E
-
Hyperinsulinemic hypoglycemia, familial, 1
-
Hyperinsulinemic hypoglycemia, familial, 2
-
Hyperinsulinemic hypoglycemia, familial, 3
-
Hyperinsulinemic hypoglycemia, familial, 6
-
Hyperinsulinemic hypoglycemia, familial, 7
-
Hyperinsulinism due to focal adenomatous hyperplasia
-
Hyperinsulinism due to glucokinase deficiency
-
Hyperinsulinism due to glutamodehydrogenase deficiency
-
Hyperinsulinism in children, congenital
-
Hyperinsulinism, diffuse
-
Hyperinsulinism, focal
-
Hyperkalemic periodic paralysis
-
Hyperkeratosis lenticularis perstans
-
Hyperkeratosis palmoplantar localized acanthokeratolytic
-
Hyperkeratosis palmoplantar localized epidermolytic
-
Hyperkeratosis palmoplantar with palmar crease hyperkeratosis
-
Hyperlipoproteinemia type 1
-
Hyperlipoproteinemia type 2
-
Hyperlipoproteinemia type 3
-
Hyperlipoproteinemia type 5
-
Hyperlysinemia
-
Hyperornithinemia
-
Hyperornithinemia-hyperammonemia-homocitrullinuria
-
Hyperostosis cortical infantile
-
Hyperostosis corticalis generalisata
-
Hyperostosis-hyperphosphatemia syndrome
-
Hyperoxaluria
-
Hyperparathyroidism, familial, primary
-
Hyperparathyroidism, neonatal severe primary
-
Hyperparathyroidism, primary
-
Hyperphalangism dysmorphy bronchomalacia
-
Hyperphenilalaninemia due to pterin-4-alpha-carbin
-
Hyperphenylalalinemia due to dihydropteridine reductase deficiency
-
Hyperphenylalaninemia due to dehydratase deficiency
-
Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
-
Hyperphenylalaninemia with primapterinuria
-
Hyperphenylalaninemic embryopathy
-
Hyperpipecolatemia
-
Hyperprolactinemia
-
Hyperprolinemia
-
Hyperprolinemia type 2
-
Hyper-reninism
-
Hypersensitivity vasculitis
-
Hypersomnolence, idiopathic
-
Hypertelorism and tetralogy of Fallot
-
Hypertelorism with esophageal abnormality and hypospadias
-
Hypertensive hypokalemia familial
-
Hyperthermia induced defects
-
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
-
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
-
Hypertrophic branchial myopathy
-
Hypertrophic hemangiectasia
-
Hypertrophic neuropathy of Dejerine-Sottas
-
Hypertrophic osteoarthropathy, primary or idiopathic
-
Hypertryptophanemia
-
Hypoadrenalism
-
Hypoadrenocorticism hypoparathyroidism moniliasis
-
Hypoaldosteronism
-
Hypoalphalipoproteinemia, primary
-
Hypobetalipoproteinaemia ataxia hearing loss
-
Hypobetalipoprotéinemia, familial
-
Hypocalcemia, autosomal dominant
-
Hypocalciuric hypercalcemia, familial, type 1
-
Hypocalciuric hypercalcemia, familial, type 2
-
Hypocalciuric hypercalcemia, familial, type 3
-
Hypochondrogenesis
-
Hypochondroplasia
-
Hypocomplementemic urticarial vasculitis
-
Hypodermyasis
-
Hypodontia dysplasia of nails
-
Hypodontia of incisors and premolars
-
Hypodontia, X-linked
-
Hypofibrinogenemia, familial
-
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
-
Hypoglycemia with deficiency of glycogen synthetase in the liver
-
Hypoglycemia, leucine-induced
-
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, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
-
Hypogonadism, isolated, hypogonadotropic
-
Hypogonadotropic hypogonadism syndactyly
-
Hypogonadotropic hypogonadism without anosmia, X-linked
-
Hypogonadotropic hypogonadism-anosmia
-
Hypogonadotropic hypogonadism-anosmia, X-linked
-
Hypohidrotic Ectodermal Dysplasia
-
Hypokalemia
-
Hypokalemic alkalosis with hypercalcinuria
-
Hypokalemic periodic paralysis
-
Hypoketonemic hypoglycemia
-
Hypolipoproteinemia
-
Hypomagnesemia 2, renal
-
Hypomagnesemia primary
-
Hypomandibular faciocranial dysostosis
-
Hypomelanotic disorder
-
Hypomelia mullerian duct anomalies
-
Hypoparathyroidism
-
Hypoparathyroidism familial isolated
-
Hypoparathyroidism short stature mental retardation
-
Hypoparathyroidism X-linked
-
Hypoparathyroidism-retardation-dysmorphism syndrome
-
Hypopharyngeal cancer
-
Hypophosphatasia
-
Hypophosphatasia, childhood
-
Hypophosphatemic rickets
-
Hypopigmentation oculocerebral syndrome Cross type
-
Hypopituitarism
-
Hypopituitarism micropenis cleft lip palate
-
Hypopituitarism postaxial polydactyly
-
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 hamartomas
-
Hypothyroidism due to iodide transport defect
-
Hypothyroidism postaxial polydactyly mental retardation
-
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
-
Hypotonic sclerotic muscular dystrophy
-
Hypotrichosis mental retardation Lopes type
-
Hypotrichosis simplex
-
Hypoxanthine guanine phosphoribosyltransferase deficiency
Note: If you need help accessing information in different file formats such as PDF, MP3, see .