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.
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- 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
- Epidermolysa bullosa simplex and limb girdle muscular dystrophy - See Epidermolysa bullosa simplex with muscular dystrophy
- Epidermolysa bullosa simplex with muscular dystrophy
- Epidermolysis bullosa
- Epidermolysis bullosa acquisita
- Epidermolysis bullosa atrophicans - See Junctional epidermolysis bullosa
- Epidermolysis bullosa dystrophica - See Dystrophic epidermolysis bullosa
- Epidermolysis bullosa dystrophica, autosomal dominant - See Dominant dystrophic epidermolysis bullosa
- Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly) - See Dominant dystrophic epidermolysis bullosa
- Epidermolysis bullosa dystrophica, dominant neonatal form - See Transient bullous dermolysis of the newborn
- Epidermolysis bullosa dystrophica, Pasini type (formerly) - See Dominant dystrophic epidermolysis bullosa
- Epidermolysis bullosa herpetiformis, Dowling-Meara type - See Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa intraepidermic - See Epidermolysis bullosa simplex
- Epidermolysis bullosa junctionalis with pyloric atresia - See Epidermolysis bullosa
- Epidermolysis bullosa junctionalis, non-Herlitz type - See Epidermolysis bullosa
- Epidermolysis bullosa letalis - See Epidermolysis bullosa
- Epidermolysis bullosa macular type - See Bullous dystrophy hereditary macular type
- Epidermolysis bullosa of hands and feet - See Epidermolysis bullosa simplex, localized
- Epidermolysis bullosa simplex
- Epidermolysis bullosa simplex - limb girdle muscular dystrophy - See Epidermolysa bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex due to plakophilin deficiency - See Ectodermal dysplasia skin fragility syndrome
- Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders - See Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
- Epidermolysis bullosa simplex of palms and soles - See Epidermolysis bullosa simplex, localized
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex, generalized
- Epidermolysis bullosa simplex, generalized non-Dowling-Meara - See Epidermolysis bullosa simplex, generalized
- Epidermolysis bullosa simplex, herpetiformis - See Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex, Koebner type - See Epidermolysis bullosa simplex, generalized
- Epidermolysis bullosa simplex, localized
- Epidermolysis bullosa simplex, Ogna type
- Epidermolysis bullosa simplex, Weber-Cockayne type - See Epidermolysis bullosa simplex, localized
- Epidermolysis bullosa with pyloric atresia - See Epidermolysis bullosa
- Epidermolysis bullosa, dermolytic - See Dystrophic epidermolysis bullosa
- Epidermolysis bullosa, junctional - See Junctional epidermolysis bullosa
- Epidermolysis bullosa, junctional, Herlitz type - See Epidermolysis bullosa
- Epidermolysis bullosa, junctional, Herlitz-Pearson type - See Epidermolysis bullosa
- Epidermolysis bullosa, junctional, non-Herlitz type - See Epidermolysis bullosa
- Epidermolysis bullosa, lethal acantholytic
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