Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program E/3

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





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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.

• 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
• epidermolytic hyperkeratosis - See Epidermolytic ichthyosis
• Epidermolytic ichthyosis
• Epidermolytic palmoplantar keratoderma
• Epidermolytic palmoplantar keratoderma of Voerner - See Epidermolytic palmoplantar keratoderma
• Epidermolytic palmoplantar keratoderma of Vörner - See Epidermolytic palmoplantar keratoderma
• Epidermolytic palmoplantar keratoderma Vorner type - See Palmoplantar keratoderma, epidermolytic
• Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy - See Cardiomyopathy dilated with woolly hair and keratoderma
• Epilepsy - microcephaly - skeletal dysplasia - See Battaglia-Neri syndrome
• Epilepsy and mental retardation limited to females - See PCDH19-related female-limited epilepsy
• Epilepsy and yellow teeth - See Kohlschutter Tonz syndrome
• Epilepsy dementia amelogenesis imperfecta - See Kohlschutter Tonz syndrome
• Epilepsy juvenile absence
• Epilepsy mental deterioration Finnish type
• Epilepsy occipital calcifications
• Epilepsy progressive myoclonic 2 - See Lafora disease
• Epilepsy progressive myoclonic type 3
• Epilepsy syndrome, infantile-onset symptomatic - See GM3 synthase deficiency
• Epilepsy telangiectasia
• Epilepsy with bilateral occipital calcifications - See Epilepsy occipital calcifications
• Epilepsy with myoclonic-astatic seizures - See Epilepsy with myoclonic-atonic seizures
• Epilepsy with myoclonic-atonic seizures
• Epilepsy with myoclono-astatic crisis - See Epilepsy with myoclonic-atonic seizures
• Epilepsy, ataxia, sensorineural deafness and tubulopathy - See SeSAME syndrome
• Epilepsy, benign neonatal, with Myokymia - See Myokymia with neonatal epilepsy
• Epilepsy, benign neonatal-infantile - See Benign familial neonatal-infantile seizures
• Epilepsy, benign occipital
• Epilepsy, familial temporal lobe - See Temporal epilepsy, familial
• Epilepsy, female restricted, with mental retardation - See PCDH19-related female-limited epilepsy
• Epilepsy, nocturnal frontal lobe, 1 - See Autosomal dominant nocturnal frontal lobe epilepsy
• Epilepsy, partial, familial
• Epilepsy, progressive myoclonic type 1 - See Unverricht-Lundborg disease
• Epilepsy, progressive myoclonus 1 - See Unverricht-Lundborg disease
• Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome - See SeSAME syndrome
• Epileptic encephalopathy Lennox-Gastaut type - See Lennox-Gastaut syndrome
• Epileptic encephalopathy with continuous spike-and-wave during slow sleep - See Continuous spike-wave during slow sleep syndrome
• Epileptic encephalopathy, childhood-onset - See CHD2 myoclonic encephalopathy
• Epileptic encephalopathy, early infantile, 10 - See Early Infantile Epileptic Encephalopathy
• Epileptic encephalopathy, early infantile, 12 - See Early Infantile Epileptic Encephalopathy 12
• Epileptic Encephalopathy, early infantile, 13 - See SCN8A encephalopathy
• EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 - See SLC35A2-CDG
• Epileptic encephalopathy, early infantile, 9 - See PCDH19-related female-limited epilepsy
• Epimerase deficiency galactosemia - See Galactose epimerase deficiency
• Epimetaphyseal dysplasia cataract
• Epiphyseal dysplasia dysmorphism camptodactyly
• Epiphyseal dysplasia hearing loss dysmorphism
• Epiphyseal dysplasia multiple 1 - See Multiple epiphyseal dysplasia 1
• Epiphyseal dysplasia multiple 2 - See Multiple epiphyseal dysplasia 2
• Epiphyseal dysplasia multiple 3 - See Multiple epiphyseal dysplasia 3
• Epiphyseal dysplasia multiple 4 - See Multiple epiphyseal dysplasia 4
• Epiphyseal dysplasia multiple 5 - See Multiple epiphyseal dysplasia 5
• Epiphyseal dysplasia multiple with early-onset diabetes mellitus
• Epiphyseal dysplasia, microcephaly and nystagmus - See Lowry Wood syndrome
• Epiphyseal dysplasia, multiple - See Multiple epiphyseal dysplasia
• Epiphyseal stippling with osteoclastic hyperplasia - See Pacman dysplasia
• Episkopi blindness - See Norrie disease
• Episodic angioedema with eosinophilia
• Episodic ataxia
• Episodic Ataxia syndrome - See Episodic ataxia
• Episodic ataxia type 2 - See Episodic ataxia with nystagmus
• Episodic ataxia with nystagmus
• Episodic encephalopathy due to thiamine pyrophosphokinase deficiency - See Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• Episodic kinesigenic dyskinesia 1 - See Paroxysmal kinesigenic choreoathetosis
• Epithelial basement membrane corneal dystrophy
• Epithelial ependymoma - See Ependymoma
• Epithelial myoepithelial carcinoma - See Epithelial-myoepithelial carcinoma
• Epithelial ovarian cancer - See Ovarian epithelial cancer
• Epithelial tumor of thymus - See Thymic epithelial tumor
• Epithelial-myoepithelial carcinoma
• Epithelioid sarcoma
• Epithelioma adenoides cysticum - See Multiple familial trichoepithelioma
• Epitheliopathy, acute posterior multifocal placoid pigment - See Acute posterior multifocal placoid pigment epitheliopathy
• EPM 3 - See Epilepsy progressive myoclonic type 3
• EPM1 - See Unverricht-Lundborg disease
• EPM2 - See Lafora disease
• EPM6 - See GOSR2-related progressive myoclonus ataxia
• EPP - See Erythropoietic protoporphyria
• EPPK - See Epidermolytic palmoplantar keratoderma
• EPPK - See Palmoplantar keratoderma, epidermolytic
• EPS - See Elastosis perforans serpiginosa
• Epstein Barr virus infection, familial fatal - See X-linked lymphoproliferative syndrome
• Epstein syndrome - See MYH9 related thrombocytopenia
• EPXD - See Eosinophil peroxidase deficiency
• Equine morbillivirus (formerly) - See Nipah virus encephalitis
• ERA - See Enthesitis-related juvenile idiopathic arthritis
• Erb-Goldflam syndrome - See Myasthenia gravis congenital
• Erdheim Chester disease - See Erdheim-Chester disease
• Erdheim cystic medial necrosis of aorta - See Cystic medial necrosis of aorta
• Erdheim disease - See Cystic medial necrosis of aorta
• Erdheim-Chester disease
• Ergotism - See St Anthony's fire
• Erlacher-Blount syndrome - See Blount disease
• Ermine phenotype
• ERMS - See Rhabdomyosarcoma embryonal
• Erosive adenomatosis of the nipple - See Florid papillomatosis of the nipple
• Erosive pustular dermatosis of the scalp
• Erosive vitreoretinopathy - See Wagner syndrome
• ERS - See Amelogenesis imperfecta nephrocalcinosis
• ERS - See Amelogenesis imperfecta hypoplastic type, IG
• ERVR - See Wagner syndrome
• Erysipelas
• Erythema elevatum diutinum
• Erythema migrans - See Geographic tongue - not a rare disease
• Erythema multiforme
• Erythema multiforme bullosum - See Erythema multiforme
• Erythema nodosum of unknown etiology - See Erythema nodosum, idiopathic
• Erythema nodosum, familial - See Familial erythema nodosum
• Erythema nodosum, idiopathic
• Erythema polymorphe, erythema multiforme type - See Erythema multiforme
• Erythroblastic anemia - See Beta-thalassemia
• Erythroblastopenia, transient - See Transient erythroblastopenia of childhood
• Erythrocytosis autosomal dominant benign - See Primary familial and congenital polycythemia
• Erythroderma desquamativa of Leiner
• Erythroderma Desquamativum of Infancy - See Erythroderma desquamativa of Leiner
• Erythroderma lethal congenital
• Erythrodermic ichthyosis - See Nonbullous congenital ichthyosiform erythroderma
• Erythrogenesis imperfecta - See Diamond-Blackfan anemia
• Erythrohepatic protoporphyria - See Erythropoietic protoporphyria
• Erythroid 5-aminolevulinate synthase deficiency - See X-linked sideroblastic anemia
• Erythrokeratoderma "en cocardes" - See Degos 'en cocarde' erythrokeratoderma
• Erythrokeratodermia - ataxia - See Spinocerebellar ataxia 34
• Erythrokeratodermia figurata, congenital familial, in plaques - See Keratoderma palmoplantaris transgrediens
• Erythrokeratodermia variabilis - See Erythrokeratodermia variabilis et progressiva
• Erythrokeratodermia variabilis et progressiva
• Erythrokeratodermia variabilis with erythema gyratum repens - See Keratoderma palmoplantaris transgrediens
• Erythrokeratodermia variabilis, Mendes da Costa type - See Erythrokeratodermia variabilis et progressiva
• Erythrokeratodermia with ataxia - See Spinocerebellar ataxia 34
• Erythrokeratodermia, progressive symmetric - See Erythrokeratodermia variabilis et progressiva
• Erythrokeratolysis hiemalis ichthyosis - See Keratolytic winter erythema
• Erythroleukemia - See Acute erythroid leukemia
• Erythromelalgia
• Erythroplakia
• Erythropoietic protoporphyria
• Erythropoietic uroporphyria associated with myeloid malignancy
• ES - See Benign eccrine spiradenoma
• Escher Hirt syndrome
• Escobar syndrome - See Multiple pterygium syndrome Escobar type
• Escobar syndrome, type B
• Escobar variant multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis - See Escobar syndrome, type B
• Esophageal achalasia - See Idiopathic achalasia
• Esophageal atresia
• Esophageal atresia coloboma talipes
• Esophageal cancer
• Esophageal cancer, childhood
• Esophageal varices
• Esophagitis-peptic ulcer - See Barrett esophagus - not a rare disease
• Esophagogastric and vulvar leiomyomatosis - See Leiomyoma of vulva and esophagus
• Esophagus cancer - See Esophageal cancer
• Esotropia
• ESS - See Endometrial stromal sarcoma
• ESS1 (formerly) - See Multiple self healing squamous epithelioma
• Essential benign fructosuria - See Fructosuria - not a rare disease
• Essential thrombocythemia
• Essential thrombocytosis - See Essential thrombocythemia
• Essential tremor - not a rare disease
• Essential tremors, nystagmus and duodenal ulceration - See Tremors, nystagmus and duodenal ulcers
• EST - See Mediastinal endodermal sinus tumors
• Esthesioneuroblastoma - See Olfactory neuroblastoma
• ETANTR - See Embryonal tumor with multilayered rosettes
• Ethylmalonic encephalopathy
• Ethylmalonic-adipicaciduria - See Glutaric acidemia type II
• ETL1 - See Autosomal dominant partial epilepsy with auditory features
• ETM1 - See Tremor hereditary essential, 1
• ETM2 - See Tremor hereditary essential, 2
• ETMR - See Embryonal tumor with multilayered rosettes
• Eulenburg disease - See Paramyotonia congenita
• Eunuchoidism familial hypogonadotropic
• Eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH) - SeeFertile eunuch syndrome
• EUOS - See Urethral obstruction sequence
• Evan syndrome - See Evans syndrome
• Evans syndrome
• EVMPS - See Multiple pterygium syndrome Escobar type
• Ewing family of tumors - See Ewing's family of tumors
• Ewing sarcoma
• Ewing tumor - See Ewing sarcoma
• Ewing’s tumor of bone (type) - See Ewing's family of tumors
• Ewing's family of tumors
• Ewing's sarcoma - See Ewing sarcoma
• Ewing's tumor - See Ewing sarcoma
• Exaggerated physiologic speckled mottling of skin - See Bier spots
• Exaggerated startle reaction - See Hereditary hyperekplexia
• Exaggerated startle reflex - See Jumping Frenchmen of Maine
• Excess of mature unencapsulated fatty tissue in the pelvis - See Pelvic lipomatosis
• Exencephaly
• Exercise induced hyperinsulinemic hypoglycemia - See Exercise-induced hyperinsulinemic hypoglycemia
• Exercise-induced anaphylaxis
• Exercise-induced hyperinsulinemic hypoglycemia
• Exertional headache
• Exfoliative dermatitis
• Exogenous lipoid pneumonia
• Exogenous ochronosis
• Exomphalos macroglossia gigantism syndrome - See Beckwith-Wiedemann syndrome
• Exophthalmic goiter - See Graves' disease
• Exostoses anetodermia brachydactyly type E
• Exostoses, multiple, type 1
• Exostoses, multiple, type 2
• Exostoses, multiple, type 3
• Expanded spectrum hemifacial microsomia - See Goldenhar disease
• Expanded spectrum of hemifacial microsomia - See Goldenhar disease
• Expansile osteolysis, familial - See Polyostotic osteolytic dysplasia, hereditary expansile
• Experimental silicosis - See Silicosis
• Exstrophy of the bladder
• Exstrophy-epispadias complex
• Extra digits - See Polydactyly
• Extra nipple - See Supernumerary nipple - not a rare disease
• Extracardiac Rhabdomyoma
• Extracranial arteriovenous malformation
• Extracranial AVM - See Extracranial arteriovenous malformation
• Extragonadal germ cell tumor
• Extrahepatic bile duct cancer - See Bile duct cancer
• Extramammary Paget disease
• Extramedullary myeloid tumor - See Myeloid sarcoma
• Extramembranous glomerulonephritis - See Membranous nephropathy
• Extranodal nasal NK/T cell lymphoma
• Extraosseous Ewing’s (tumor growing outside of the bone) (type) - See Ewing's family of tumors
• Extraovarian Brenner tumor of the vagina - See Brenner tumor of the vagina
• Extrasystoles short stature hyperpigmentation microcephaly
• Extreme hirsutism with gingival fibromatosis - See Gingival fibromatosis with hypertrichosis
• Extrinsic allergic pneumonia hypersensitivity Pneumonitis - See Hypersensitivity pneumonitis
• Exudative retinopathy with bone marrow failure - See Revesz syndrome
• Exudative vitreoretinopathy, familial - See Familial exudative vitreoretinopathy
• Exulceratio simplex Dieulafoy - See Dieulafoy lesion
• Eye cancer, retinoblastoma - See Retinoblastoma
• Eye defects arachnodactyly cardiopathy - See Al Gazali syndrome
• Eyebrows duplication of, with stretchable skin and syndactyly
• Eyelashes, long with intellectual disability - See Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
• EZH2 Related Overgrowth - See Weaver syndrome