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
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EAF
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Eagle's syndrome
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Eales disease
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Ear, patella, short stature syndrome
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Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
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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 spiradenoma
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Eclampsia
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Ecp syndrome
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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 anhidrotic
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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 ectrodactyly macular dystrophy
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Ectodermal dysplasia hypohidrotic autosomal dominant
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Ectodermal dysplasia hypohidrotic hypothyroidism ciliary diskinesia
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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 osteosclerosis
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Ectodermal dysplasia tricho odonto onychial type
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Ectodermal dysplasia, hidrotic, Christianson-Fourie type
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Ectodermal dysplasia, hypohidrotic, autosomal recessive
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Ectodermal dysplasia, hypohidrotic, with immune deficiency
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Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
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Ectodermal dysplasia/ skin fragility syndrome
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Ectodermic dysplasia anhidrotic cleft lip
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Ectopia lentis isolated
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Ectopia pupillae
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Ectopic coarctation
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Ectopic ossification familial type
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Ectopic pregnancy
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Ectrodactyly
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Ectrodactyly cardiopathy dysmorphism
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Ectrodactyly cleft palate syndrome
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Ectrodactyly dominant form
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Ectrodactyly ectrodermal dysplasia
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Ectrodactyly polydactyly
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Ectrodactyly recessive form
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Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
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Ectropion inferior cleft lip and or palate
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Edinburgh malformation syndrome
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Edwards Patton Dilly syndrome
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Edwards syndrome
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EEC syndrome
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Eec syndrome without cleft lip palate
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EEM syndrome
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Egg shaped pupils
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Ehlers Danlos syndrome type 4, autosomal dominant
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Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome 6B
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Ehlers-Danlos syndrome caused by tenascin-X deficiency
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Ehlers-Danlos syndrome type 1
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Ehlers-Danlos syndrome type 2
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Ehlers-Danlos syndrome type 3
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Ehlers-Danlos syndrome type 5
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Ehlers-Danlos syndrome type 6
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Ehlers-Danlos syndrome type 7B
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Ehlers-Danlos syndrome type 7C
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Ehlers-Danlos syndrome, arthrochalasic type
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Ehlers-Danlos syndrome, Beasley Cohen type
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Ehlers-Danlos syndrome, cardiac valvular form
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Ehlers-Danlos syndrome, classic type
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Ehlers-Danlos syndrome, dermatosparaxis type
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Ehlers-Danlos syndrome, hypermobile type
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Ehlers-Danlos syndrome, progeroid form
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Ehlers-Danlos syndrome, type 10
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Ehlers-Danlos syndrome, type VII, autosomal dominant
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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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Electron transfer flavoprotein, deficiency of
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Elejalde syndrome
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Elephant man in context of NF
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Elliott Ludman Teebi syndrome
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Ellis Yale Winter syndrome
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Emanuel syndrome
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Emanuel syndrome
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Embryonal sarcoma
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Emerinopathy
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Emery Nelson syndrome
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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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Emphysema, congenital lobar
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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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Encephalocele anterior
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Encephalocele frontal
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Encephalocraniocutaneous lipomatosis
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Encephalomyelitis
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Encephalopathy intracerebral calcification retinal
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Encephalopathy progressive optic atrophy
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Encephalopathy recurrent of childhood
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Encephalopathy, ethylmalonic
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Encephalopathy-basal ganglia-calcification
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Enchondromatosis (benign)
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Enchondromatosis dwarfism deafness
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Endocardial fibroelastosis
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Endocarditis
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Endocarditis, infective
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Endocrinopathy
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Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease
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Endometrial cancer
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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
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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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Envenomization by bothrops lanceolatus
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Envenomization by the Martinique lancehead viper
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Environment associated hypertension
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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 granuloma
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Eosinophilic lymphogranuloma
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Eosinophilic pustular folliculitis
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Eosinophilic synovitis
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Ependymoblastoma
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Ependymoma
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Epidemic encephalitis
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Epidemic encephalomyelitis
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Epidermal nevus vitamin D resistant rickets
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Epidermodysplasia verruciformis
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Epidermoid carcinoma
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Epidermolysa bullosa simplex and limb girdle muscular dystrophy
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Epidermolysis bullosa
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Epidermolysis bullosa acquisita
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Epidermolysis bullosa dystrophica, Bart type
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Epidermolysis bullosa dystrophica, dominant type
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Epidermolysis bullosa dystrophica, Pasini type
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Epidermolysis bullosa herpetiformis, Dowling-Meara
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Epidermolysis bullosa intraepidermic
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Epidermolysis bullosa inversa dystrophica
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Epidermolysis bullosa letalis
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Epidermolysis bullosa simplex with mottled pigmentation
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Epidermolysis bullosa simplex, Cockayne-Touraine type
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Epidermolysis bullosa simplex, Koebner type
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Epidermolysis bullosa simplex, Ogna type
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Epidermolysis bullosa with pyloric atresia
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Epidermolysis bullosa, dermolytic
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Epidermolysis bullosa, generalized atrophic benign
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Epidermolysis bullosa, junctional
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Epidermolysis bullosa, junctional, with pyloric atrophy
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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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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 microcephaly skeletal dysplasia
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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 with myoclono-astatic crisis
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Epilepsy, benign occipital
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Epilepsy, myoclonic progressive familial
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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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Epimerase deficiency
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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, 1
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Epiphyseal dysplasia, multiple, 2
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Epiphyseal dysplasia, multiple, 3
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Epiphyseal dysplasia, multiple, 4
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Epiphyseal dysplasia, multiple, 5
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Episodic Ataxia syndrome
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Episodic ataxia with nystagmus
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Epithelial-myoepithelial carcinoma
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Epithelioid sarcoma
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Epitheliopathy, acute posterior multifocal placoid
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Epstein Barr virus, chronic
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Epstein syndrome
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Erdheim disease
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Erdheim-Chester syndrome
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Ermine phenotype
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Eronen Somer Gustafsson syndrome
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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, familial
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Erythema nodosum, idiopathic
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Erythermalgia
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Erythroblastopenia
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Erythroderma desquamativa of Leiner
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Erythroderma lethal congenital
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Erythrokeratodermia ataxia
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Erythrokeratodermia progressive symmetrica ichthyosis
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Erythrokeratodermia symmetrica progressiva
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Erythrokeratodermia variabilis ichthyosis
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Erythrokeratodermia variabilis, Mendes da Costa type
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Erythrokeratodermia with ataxia
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Erythromelalgia
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Erythroplakia
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Erythropoietic protoporphyria
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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 associated anomalies
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Esophageal atresia coloboma talipes
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Esophageal cancer
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Esophageal disorder
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Esophageal duodenal atresia abnormalities of hands
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Esophageal neoplasm, childhood
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Esophageal varices
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Esotropia
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Essential hypertension
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Essential iris atrophy
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Essential mixed cryoglobulinemia
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Essential thrombocytopenia
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Essential thrombocytosis
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Esthesioneuroblastoma
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Euhidrotic ectodermal dysplasia
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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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Exfoliative dermatitis
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Exogenous lipoid pneumonia
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Exostoses
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Exostoses anetodermia brachydactyly type E
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Exostoses, multiple
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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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Exudative vitreoretinopathy 1
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Eye defects arachnodactyly cardiopathy
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Eyebrows duplication of, with stretchable skin and syndactyly
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