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 Research, 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
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
Browse by Condition
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EAF
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Eagle syndrome
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Eales disease
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Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
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Eastern equine encephalitis
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Ebola virus disease
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Ebstein's anomaly
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Eccentrochondrodysplasia
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Eccrine acrospiroma
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Eccrine mucinous carcinoma
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Eclampsia
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Ectodermal dysplasia
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Ectodermal dysplasia 2, hidrotic
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Ectodermal dysplasia adrenal cyst
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Ectodermal dysplasia alopecia preaxial polydactyly
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Ectodermal dysplasia arthrogryposis diabetes mellitus
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Ectodermal dysplasia Bartalos type
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Ectodermal dysplasia Berlin type
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Ectodermal dysplasia blindness
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Ectodermal dysplasia Margarita type
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Ectodermal dysplasia mental retardation CNS malformation
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Ectodermal dysplasia mental retardation syndactyly
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Ectodermal dysplasia neurosensory deafness
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Ectodermal dysplasia skin fragility syndrome
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Ectodermal dysplasia trichoodontoonychial type
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Ectodermal dysplasia with natal teeth Turnpenny type
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Ectodermal dysplasia, hidrotic, Christianson-Fourie type
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Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
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Ectopia lentis, isolated autosomal recessive
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Ectopia pupillae
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Ectopic pregnancy
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Ectrodactyly and ectodermal dysplasia without cleft lip/palate
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Ectrodactyly cardiopathy dysmorphism
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Ectrodactyly cleft palate syndrome
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Ectrodactyly polydactyly
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Ectropion inferior cleft lip and or palate
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Edinburgh malformation syndrome
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EEC syndrome
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EEM syndrome
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Egg shaped pupils
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Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome arthrochalasia type
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Ehlers-Danlos syndrome Beasley Cohen type
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Ehlers-Danlos syndrome dermatosparaxis type
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Ehlers-Danlos syndrome dysfibronectinemic type
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Ehlers-Danlos syndrome hypermobility type
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Ehlers-Danlos syndrome kyphoscoliotic type
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Ehlers-Danlos syndrome progeroid type
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Ehlers-Danlos syndrome type 5
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Ehlers-Danlos syndrome vascular type
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Ehlers-Danlos syndrome, classic type
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Ehlers-Danlos-like syndrome due to tenascin-X deficiency
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Ehrlichiosis
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Eisenmenger syndrome
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Elastosis perforans serpiginosa
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Elective mutism
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Elliott Ludman Teebi syndrome
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Ellis Yale Winter syndrome
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Ellis-Van Creveld syndrome
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Emanuel syndrome
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Embryonal carcinoma
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Embryonal sarcoma
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Emerinopathy
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Emery-Dreifuss muscular dystrophy
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Emery-Dreifuss muscular dystrophy, dominant type
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Emery-Dreifuss muscular dystrophy, X-linked
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Empty sella syndrome
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Enamel hypoplasia cataract hydrocephaly
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Encephalitis lethargica
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Encephalocele
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Encephalocele anencephaly
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Encephalocraniocutaneous lipomatosis
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Encephalomyopathy
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Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
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Encephalopathy recurrent of childhood
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Enchondroma
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Enchondromatosis dwarfism deafness
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Endemic Kaposi sarcoma
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Endocardial fibroelastosis
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Endolymphatic sac tumor
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Endometrial stromal sarcoma
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Endomyocardial fibroelastosis
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Endomyocardial fibrosis
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Eng Strom syndrome
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Engelhard Yatziv syndrome
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Enlarged vestibular aqueduct syndrome
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Enolase deficiency type 1
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Enolase deficiency type 2
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Enolase deficiency type 3
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Enolase deficiency type 4
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Enterobiasis
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Enteropathica
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Enteropathy-associated T-cell lymphoma
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Enterovirus antenatal infection
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Enthesitis-related juvenile idiopathic arthritis
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Envenomization by bothrops lanceolatus
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Eosinophilia-myalgia syndrome
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Eosinophilic cryptitis
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Eosinophilic cystitis
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Eosinophilic enteropathy
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Eosinophilic fasciitis
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Eosinophilic pustular folliculitis
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Ependymoblastoma
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Ependymoma
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Epidermal nevus vitamin D resistant rickets
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Epidermodysplasia verruciformis
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Epidermolysa bullosa simplex with muscular dystrophy
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Epidermolysis bullosa
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Epidermolysis bullosa acquisita
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Epidermolysis bullosa simplex
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Epidermolysis bullosa simplex with mottled pigmentation
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Epidermolysis bullosa simplex, Dowling-Meara type
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Epidermolysis bullosa simplex, generalized
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Epidermolysis bullosa simplex, localized
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Epidermolysis bullosa simplex, Ogna type
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Epidermolysis bullosa, late-onset localized junctional, with mental retardation
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Epidermolysis bullosa, lethal acantholytic
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Epidermolysis bullosa, pretibial
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Epidermolytic hyperkeratosis
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Epilepsy benign neonatal dominant form
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Epilepsy benign neonatal recessive form
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Epilepsy juvenile absence
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Epilepsy mental deterioration Finnish type
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Epilepsy occipital calcifications
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Epilepsy progressive myoclonic type 3
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Epilepsy telangiectasia
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Epilepsy, benign occipital
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Epilepsy, female restricted, with mental retardation
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Epilepsy, nocturnal, frontal lobe type
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Epilepsy, partial, familial
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Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
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Epileptic encephalopathy Lennox-Gastaut type
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Epimetaphyseal dysplasia cataract
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Epimetaphyseal skeletal dysplasia
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Epiphyseal dysplasia dysmorphism camptodactyly
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Epiphyseal dysplasia hearing loss dysmorphism
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Epiphyseal dysplasia multiple with early-onset diabetes mellitus
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Episodic ataxia
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Episodic ataxia with nystagmus
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Epithelial basement membrane corneal dystrophy
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Epithelial-myoepithelial carcinoma
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Epithelioid sarcoma
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Epitheliopathy, acute posterior multifocal placoid pigment
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Erdheim-Chester disease
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Ermine phenotype
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Erosive pustular dermatosis of the scalp
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Erysipelas
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Erythema elevatum diutinum
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Erythema multiforme
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Erythema nodosum, idiopathic
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Erythroderma desquamativa of Leiner
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Erythroderma lethal congenital
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Erythrokeratodermia variabilis et progressiva
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Erythromelalgia
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Erythroplakia
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Erythropoietic protoporphyria
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Erythropoietic uroporphyria associated with myeloid malignancy
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Escher Hirt syndrome
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Escobar syndrome, type B
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Esophageal atresia
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Esophageal atresia coloboma talipes
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Esophageal cancer
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Esophageal cancer, childhood
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Esophageal varices
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Esotropia
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Essential thrombocythemia
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Essential tremor
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Esthesioneuroblastoma
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Ethylmalonic encephalopathy
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Eunuchoidism familial hypogonadotropic
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Evans syndrome
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Ewing's family of tumors
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Ewing's sarcoma
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Exencephaly
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Exercise induced anaphylaxis
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Exercise-induced hyperinsulinemic hypoglycemia
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Exertional headache
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Exfoliative dermatitis
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Exogenous lipoid pneumonia
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Exogenous ochronosis
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Exostoses anetodermia brachydactyly type E
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Exostoses, multiple, type 1
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Exostoses, multiple, type 2
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Exostoses, multiple, type 3
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Exstrophy of the bladder
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Exstrophy of the bladder-epispadias
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Exsudative retinopathy familial, autosomal dominant
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Exsudative retinopathy familial, autosomal recessive
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Exsudative retinopathy familial, X-linked, recessive
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Exsudative retinopathy, familial
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Extracranial germ cell tumor, childhood
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Extragonadal germ cell tumor
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Extrasystoles short stature hyperpigmentation microcephaly
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Eyebrows duplication of, with stretchable skin and syndactyly