Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program E/2

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program





E/2



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• Ehlers-Danlos syndrome, arthrochalasia type - See Arthrochalasia Ehlers-Danlos syndrome
• EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM - See Cardiac-Valvular Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, cardiac valvular type - See Cardiac-Valvular Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, classic type - See Classical Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, classic-like type - See Classical-like Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, dermatosparaxis type - See Dermatosparaxis Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, dysfibronectinemic type
• Ehlers-Danlos syndrome, hypermobility type - See Hypermobile Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, kyphoscoliosis type - See Kyphoscoliotic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, kyphoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, musculocontractural type - See Musculocontractural Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, occipital horn type (formerly) - See Occipital horn syndrome
• Ehlers-Danlos syndrome, oculoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, periodontitis type - See Periodontal Ehlers-Danlos syndrome
• EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE - See Periodontal Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, progeroid type (former) - See Spondylodysplastic Ehlers-Danlos syndrome
• Ehlers-danlos syndrome, type 11 (formerly) - See Familial joint instability syndrome
• Ehlers-Danlos syndrome, type VIII (formerly) - See Periodontal Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, type X (formerly) - See Ehlers-Danlos syndrome, dysfibronectinemic type
• Ehlers-Danlos syndrome, vascular type - See Vascular Ehlers-Danlos syndrome
• Ehlers-Danlos syndromes
• Ehrlichiosis
• Ehrmann-Sneddon syndrome - See Sneddon syndrome
• EIEE10 - See Early Infantile Epileptic Encephalopathy
• EIEE12 - See Early Infantile Epileptic Encephalopathy 12
• EIEE13 - See SCN8A encephalopathy
• EIEE14 - See Malignant migrating partial seizures of infancy
• EIEE25 - See Early infantile epileptic encephalopathy 25
• EIEE26 - See Early infantile epileptic encephalopathy 26
• EIEE4 - See Early infantile epileptic encephalopathy 4
• EIEE9 - See PCDH19-related female-limited epilepsy
• Eisenmenger syndrome
• EJM - See Juvenile myoclonic epilepsy
• EKV - See Erythrokeratodermia variabilis et progressiva
• EKVP - See Erythrokeratodermia variabilis et progressiva
• Elastoderma
• Elastoma intrapapillare perforans verruciformis - See Elastosis perforans serpiginosa
• Elastosis perforans serpiginosa
• Elattoproteus syndrome - See Macrocephaly mesodermal hamartoma spectrum
• Elective mutism
• Elejalde syndrome - See Acrocephalopolydactylous dysplasia
• Elephantiasis - See Lymphatic filariasis
• Elephantitis - See Lymphatic filariasis
• Elevated dark spiny papules on the face or trunk - See Trichostasis spinulosa
• Elizabethkingia anophelis infection
• Elliott Ludman Teebi syndrome
• Ellis Yale Winter syndrome
• Ellis-Van Creveld syndrome
• Elongated styloid process syndrome - See Eagle syndrome
• Elongated styloid process which causes cervico facial pain tinnitus and otalgia - See Eagle syndrome
• ELP2-related disorder - See Autosomal recessive intellectual disability 58
• Elsahy-Waters syndrome - See Brachioskeletogenital syndrome
• Elschnig syndrome - See Ectropion inferior cleft lip and or palate
• ELST - See Endolymphatic sac tumor
• EM - See Erythema multiforme
• EMA - See Glutaric acidemia type II
• Emanuel syndrome
• EMARDD - See Early-onset myopathy, areflexia, respiratory distress and dysphagia
• Emberger syndrome - See Deafness-lymphedema-leukemia syndrome
• Embolism, fibrocartilaginous - See Fibrocartilaginous embolism
• Embryofetopathy due to oral anticoagulant therapy - See Warfarin syndrome
• Embryonal carcinoma
• Embryonal rhabdomyosarcoma - See Rhabdomyosarcoma embryonal
• Embryonal sarcoma
• Embryonal tumor with abundant neuropil and true rosettes - See Embryonal tumor with multilayered rosettes
• Embryonal tumor with multilayered rosettes
• EMC - See Epithelial-myoepithelial carcinoma
• EME - See Ethylmalonic encephalopathy
• Emerinopathy
• Emery-Dreifuss muscular dystrophy
• Emery-Dreifuss muscular dystrophy, dominant type
• Emery-Dreifuss muscular dystrophy, X-linked
• Emery-Nelson syndrome - See Hand and foot deformity with flat facies
• EMG Syndrome - See Beckwith-Wiedemann syndrome
• Emotional incontinence - See Pseudobulbar affect - not a rare disease
• Emotional lability - See Pseudobulbar affect - not a rare disease
• EMPD - See Extramammary Paget disease
• Empeines - See Pinta
• Emphysema, congenital lobar - See Congenital lobar emphysema
• Empty scrotum - See Anorchia
• Empty sella syndrome
• Empty sella turcica - See Empty sella syndrome
• EMS - See Eosinophilia-myalgia syndrome
• En coup de sabre - See Linear scleroderma
• Enamel hypoplasia and hypocalcification with associated strikingly curly hair - See Tricho-dento-osseous syndrome
• Enamel hypoplasia cataract hydrocephaly
• Enamel hypoplasia X-linked - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
• Enamel hypoplasia, capsular cataracts, and ductal stenosis - See Seow Najjar syndrome
• Enamel hypoplasia, X-linked - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
• Enamel renal syndrome - See Amelogenesis imperfecta nephrocalcinosis
• Enamel-renal syndrome - See Amelogenesis imperfecta hypoplastic type, IG
• Encephalitis lethargica
• Encephalitis periaxialis concentrica - See Tumefactive multiple sclerosis
• Encephalocele
• Encephalocele anencephaly
• Encephalocraniocutaneous lipomatosis
• Encephalofacial angiomatosis - See Sturge-Weber syndrome
• Encephalomeningocele - See Meningoencephalocele
• Encephalomyopathic mitochondrial DNA depletion syndrome-13 - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• Encephalomyopathic type with renal tubulopathy - See RRM2B-related mitochondrial DNA depletion syndrome
• Encephalopathy due to GLUT1 deficiency - See Glucose transporter type 1 deficiency syndrome
• Encephalopathy due to prosaposin deficiency - See Sphingolipidosis
• Encephalopathy fatal infantile with mitochondrial respiratory chain defects - See Pontocerebellar hypoplasia type 6
• Encephalopathy fatal infantile with olivopontocerebellar hypoplasia - See Pontocerebellar hypoplasia type 4
• Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
• Encephalopathy of childhood - See Lennox-Gastaut syndrome
• Encephalopathy recurrent of childhood
• Encephalopathy subacute spongiform Gerstmann-Straussler type - See Gerstmann-Straussler-Scheinker disease
• Encephalopathy with basal ganglia calcification - See Aicardi-Goutieres syndrome
• Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid - See Aicardi-Goutieres syndrome
• Encephalopathy, ethylmalonic - See Ethylmalonic encephalopathy
• Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis - SeeAicardi-Goutieres syndrome
• Encephalopathy, familial, with Collins bodies - See Familial encephalopathy with neuroserpin inclusion bodies
• Encephalopathy, hepatic - See Hepatic encephalopathy
• Encephalopathy, petechiae, and ethylmalonic aciduria - See Ethylmalonic encephalopathy
• Encephalopathy, recurrent, of childhood - See Neuhauser Eichner Opitz syndrome
• Encephalotrigeminal angiomatosis - See Sturge-Weber syndrome
• Enchondroma
• Enchondromatosis - See Ollier disease
• Enchondromatosis dwarfism deafness
• Enchondromatosis with Multiple Cavernous Hemangiomas - See Maffucci syndrome
• Endemic Kaposi sarcoma
• Endemic pemphigus foliaceus - See Pemphigus and fogo selvagem
• Endemic syphilis - See Bejel
• Endemic treponematoses - See Yaws
• Endemic treponematosis caused by Treponema carateum - See Pinta
• Endemic typhus - See Typhus
• Endocardial fibroelastosis
• Endocarditis, infective - See Infective endocarditis
• Endocrine adenomatosis multiple - See Multiple endocrine neoplasia type 1
• Endodermal-sinus tumor - See Testicular yolk sac tumor
• Endoepithelial corneal dystrophy - See Fuchs endothelial corneal dystrophy - not a rare disease
• Endogenous hypertriglyceridaemia - See Familial lipoprotein lipase deficiency
• Endolymphatic sac tumor
• Endometrial Adenosquamous Cancer - See Adenosquamous carcinoma of the endometrium
• Endometrial Adenosquamous Carcinoma - See Adenosquamous carcinoma of the endometrium
• Endometrial stromal sarcoma
• Endomyocardial fibroelastosis
• Endomyocardial fibrosis
• Endosteal hyperostosis autosomal recessive - See Hyperostosis corticalis generalisata
• Endosteal hyperostosis, autosomal dominant - See Worth type autosomal dominant osteosclerosis
• Endosteal hyperostosis, Worth type - See Worth type autosomal dominant osteosclerosis
• ENFL1 - See Autosomal dominant nocturnal frontal lobe epilepsy
• Engelhard Yatziv syndrome
• Engelmann disease - See Camurati-Engelmann disease
• Engraftment syndrome
• Enhanced S-cone syndrome - See Goldmann-Favre syndrome
• Enlarged heart and poor heart function - See Keshan disease
• Enlarged tongue - See Macroglossia
• Enlarged vestibular aqueduct syndrome
• Enolase 3 deficiency - See Glycogen storage disease type 13
• Enolase-beta deficiency - See Glycogen storage disease type 13
• Enteric fever - See Typhoid fever
• Enteritis - See Crohn's disease - not a rare disease
• Enterocolitis, necrotizing - See Necrotizing enterocolitis
• Enterocyte cobalamin malabsorption - See Imerslund-Grasbeck syndrome
• Enteropathica
• Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Enteropathy-associated T-cell lymphoma
• Enterovesical fistula
• Enterovirus antenatal infection
• Enthesitis related arthritis, juvenile - See Enthesitis-related juvenile idiopathic arthritis
• Enthesitis-related arthritis - See Enthesitis-related juvenile idiopathic arthritis
• Enthesitis-related JIA - See Enthesitis-related juvenile idiopathic arthritis
• Enthesitis-related juvenile idiopathic arthritis
• Envenomization by bothrops lanceolatus
• Envenomization by the Martinique lancehead viper - See Envenomization by bothrops lanceolatus
• EOC - See Ovarian epithelial cancer
• EOCA - See Harding ataxia
• EOCA-HA - See Ataxia with oculomotor apraxia type 1
• EOF - See Polyostotic osteolytic dysplasia, hereditary expansile
• EOFAD - See Early-onset, autosomal dominant Alzheimer disease
• Eosinophil peroxidase deficiency
• Eosinophil peroxidase deficiency, partial - See Eosinophil peroxidase deficiency
• Eosinophilia-myalgia syndrome
• Eosinophilic angiocentric fibrosis - See EAF
• Eosinophilic cellulitis - See Wells syndrome
• Eosinophilic cryptitis
• Eosinophilic cystitis
• Eosinophilic enteritis - See Eosinophilic enteropathy
• Eosinophilic enteropathy
• Eosinophilic esophagitis - See Eosinophilic enteropathy
• Eosinophilic fasciitis
• Eosinophilic folliculitis - See Eosinophilic pustular folliculitis
• Eosinophilic folliculitis, pustular - See Eosinophilic pustular folliculitis
• Eosinophilic gastritis - See Eosinophilic enteropathy
• Eosinophilic gastroenteritis - See Eosinophilic enteropathy
• Eosinophilic gastroenteropathy - See Eosinophilic enteropathy
• Eosinophilic glassy cell hepatoma - See Fibrolamellar carcinoma
• Eosinophilic granuloma of soft tissue - See Kimura disease
• Eosinophilic granulomatosis with polyangiitis
• Eosinophilic hepatocellular carcinoma with lamellar fibrosis - See Fibrolamellar carcinoma
• Eosinophilic hyperplastic lymphogranuloma - See Kimura disease
• Eosinophilic idiopathic chronic pneumopathy - See Chronic eosinophilic pneumonia (CEP)
• Eosinophilic lymphofollicular granuloma - See Kimura disease
• Eosinophilic lymphofolliculosis - See Kimura disease
• Eosinophilic lymphogranuloma - See Kimura disease
• Eosinophilic mastitis
• Eosinophilic pustular folliculitis
• EOTD - See DYT-TOR1A
• EPEMA syndrome - See Ethylmalonic encephalopathy
• Ependymoblastoma - See Embryonal tumor with multilayered rosettes
• Ependymoma
• Ependymoma, familial - See Ependymoma
• EPF - See Eosinophilic pustular folliculitis
• Epidemic typhus - See Typhus
• Epidermal nevus - not a rare disease
• Epidermal nevus vitamin D resistant rickets
• Epidermodysplasia verruciformis
• Epidermoid brain cyst
• Epidermoid brain tumor - See Epidermoid brain cyst
• Epidermoid carcinoma - See Squamous cell carcinoma - not a rare disease