Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program E/1 ENGLISH

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.

• E3 deficiency - See Dihydrolipoamide dehydrogenase deficiency
• E3-deficient maple syrup urine disease - See Dihydrolipoamide dehydrogenase deficiency
• EA syndrome - See Episodic ataxia
• EA2 - See Episodic ataxia with nystagmus
• EAF
• Eagle syndrome
• Eagle-Barrett syndrome - See Prune belly syndrome
• Eagle's syndrome - See Eagle syndrome
• Eales disease
• EAOH - See Ataxia with oculomotor apraxia type 1
• Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis - See Congenital contractural arachnodactyly
• Ear deformity and conductive hearing loss - See Conductive deafness with malformed external ear
• Ear deformity characterized by an abnormal development of the helix, anthelix, and scaphoid fossa - See Morel's ear
• Ear, patella, short stature syndrome - See Meier-Gorlin syndrome
• Early balding, patella luxation, acromicria and hypogonadism - See Scholte syndrome
• Early cutaneous photosensitivity and severe colitis - See Cutaneous photosensitivity and colitis, lethal
• Early Infantile Epileptic Encephalopathy
• Early Infantile Epileptic Encephalopathy 12
• Early infantile epileptic encephalopathy 14 - See Malignant migrating partial seizures of infancy
• Early infantile epileptic encephalopathy 18
• Early infantile epileptic encephalopathy 20 - See Multiple congenital anomalies-hypotonia-seizures syndrome type 2
• Early infantile epileptic encephalopathy 25
• Early infantile epileptic encephalopathy 26
• Early infantile epileptic encephalopathy 4
• Early infantile epileptic encephalopathy-10 - See Early Infantile Epileptic Encephalopathy
• Early infantile epileptic encephalopathy-13 - See SCN8A encephalopathy
• Early infantile epileptic encephalopathy-17 - See GNAO1 encephalopathy
• Early infantile epileptic encephalopathy-2 - See CDKL5 deficiency disorder
• Early infantile epileptic encephalopathy-50 - See CAD-CDG
• Early infantile epileptic encephalopathy-64
• Early onset lymphedema - See Milroy disease
• Early onset torsion dystonia - See DYT-TOR1A
• Early onset tylosis (type B) - See Tylosis
• Early urethral obstruction sequence - See Urethral obstruction sequence
• Early-onset anterior polar cataract
• Early-onset anterior subcapsular cataract - See Early-onset anterior polar cataract
• Early-onset ataxia with oculomotor apraxia and hypoalbuminemia - See Ataxia with oculomotor apraxia type 1
• Early-onset autosomal dominant Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Early-onset cerebellar ataxia with hypoalbuminemia - See Ataxia with oculomotor apraxia type 1
• Early-onset familial autosomal dominant Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Early-onset familial form of Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Early-onset generalized dystonia - See DYT-TOR1A
• Early-onset multiple carboxylase deficiency - See Holocarboxylase synthetase deficiency
• Early-onset myopathy, areflexia, respiratory distress and dysphagia
• Early-onset Parkinson disease - See Autosomal recessive juvenile Parkinson disease
• Early-onset parkinsonism-intellectual disability syndrome
• Early-onset primary dystonia - See DYT-TOR1A
• Early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline - See Karak syndrome
• Early-onset regressive form of metaphyseal dysplasia - See Metaphyseal anadysplasia
• Early-Onset Torsion Dystonia - See DYT-TOR1A
• Early-onset vitelliform macular dystrophy - See Best vitelliform macular dystrophy
• Early-onset zonular cataract
• Early-onset, autosomal dominant Alzheimer disease
• Ears prominent and constricted - See Auriculo-condylar syndrome
• EAST syndrome - See SeSAME syndrome
• Eastern equine encephalitis
• Eastman Bixler syndrome - See Faciocardiorenal syndrome
• EATCL - See Enteropathy-associated T-cell lymphoma
• Eaton Lambert syndrome - See Lambert Eaton myasthenic syndrome
• EB - See Epidermolysis bullosa
• EB acquisita - See Epidermolysis bullosa acquisita
• EB progressive - See Junctional epidermolysis bullosa
• EBA - See Epidermolysis bullosa acquisita
• EBLA - See Epidermolysis bullosa, lethal acantholytic
• EBM - See Bullous dystrophy hereditary macular type
• Ebola virus disease
• EBS with mottled pigmentation - See Epidermolysis bullosa simplex with mottled pigmentation
• EBS, generalized - See Epidermolysis bullosa simplex, generalized
• EBS-DM - See Epidermolysis bullosa simplex, Dowling-Meara type
• EBS-K - See Epidermolysis bullosa simplex, generalized
• EBS-loc - See Epidermolysis bullosa simplex, localized
• EBS-MD - See Epidermolysa bullosa simplex with muscular dystrophy
• EBS-MP - See Epidermolysis bullosa simplex with mottled pigmentation
• EBS-OG - See Epidermolysis bullosa simplex, Ogna type
• Ebstein anomaly - See Ebstein's anomaly
• Ebstein's anomaly
• Ebstein's malformation - See Ebstein's anomaly
• EBV infection, severe, susceptibility to - See X-linked lymphoproliferative syndrome
• EBVS - See X-linked lymphoproliferative syndrome
• Eccentrochondrodysplasia
• ECCL - See Encephalocraniocutaneous lipomatosis
• Eccrine Acrospiroma - See Acrospiroma
• Eccrine mucinous carcinoma
• Eccrine porocarcinoma
• Eccrine porocarcinoma of skin - See Eccrine porocarcinoma
• Eccrine spiradenoma - See Benign eccrine spiradenoma
• Eccrine spiradenoma, benign - See Benign eccrine spiradenoma
• Eccrine spiradenoma, malignant - See Malignant eccrine spiradenoma
• ECD - See Erdheim-Chester disease
• Echinococcosis - See Alveolar echinococcosis
• ECHS1D - See Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
• Eclampsia
• Ectasia or varix of the vein of Galen - See Vein of Galen aneurysm
• Ectasic coloboma - See Morning glory syndrome
• Ectodermal dysplasia
• Ectodermal dysplasia - cataracts - kyphoscoliosis - See Arthrogryposis and ectodermal dysplasia
• Ectodermal dysplasia - skin fragility syndrome - See Ectodermal dysplasia skin fragility syndrome
• Ectodermal dysplasia 1 - See X-linked hypohidrotic ectodermal dysplasia
• Ectodermal dysplasia alopecia preaxial polydactyly
• Ectodermal dysplasia and cerebellar ataxia - See Cerebellar ataxia ectodermal dysplasia
• Ectodermal dysplasia anhidrotic - See Hypohidrotic ectodermal dysplasia
• Ectodermal dysplasia arthrogryposis diabetes mellitus
• Ectodermal dysplasia Bartalos type
• Ectodermal dysplasia Berlin type
• Ectodermal dysplasia blindness
• Ectodermal dysplasia hypohidrotic autosomal dominant - See Hypohidrotic ectodermal dysplasia autosomal dominant
• Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
• Ectodermal dysplasia intellectual disability CNS malformation
• Ectodermal dysplasia Margarita island type - See Bustos Simosa Pinto Cisternas syndrome
• Ectodermal dysplasia Margarita type
• Ectodermal dysplasia neurosensory deafness
• Ectodermal dysplasia osteosclerosis - See Cote Katsantoni syndrome
• Ectodermal dysplasia skin fragility syndrome
• Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract - SeeArthrogryposis and ectodermal dysplasia
• Ectodermal dysplasia trichoodontoonychial type
• Ectodermal dysplasia type 4 - See Bustos Simosa Pinto Cisternas syndrome
• Ectodermal dysplasia with corkscrew hairs - See Trueb Burg Bottani syndrome
• Ectodermal dysplasia with natal teeth Turnpenny type
• Ectodermal dysplasia, anhidrotic, with cleft lip/palate - See Rapp-Hodgkin syndrome
• Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly - See Zlotogora syndrome
• Ectodermal dysplasia, ectrodactyly, and macular dystrophy - See EEM syndrome
• Ectodermal dysplasia, hidrotic - See Clouston syndrome
• Ectodermal dysplasia, hidrotic, Christianson-Fourie type
• Ectodermal dysplasia, hypohidrotic - See Hypohidrotic ectodermal dysplasia
• Ectodermal dysplasia, hypohidrotic, with acanthosis nigricans - See Lelis syndrome
• Ectodermal dysplasia, hypohidrotic, with immune deficiency - See Hypohidrotic ectodermal dysplasia with immune deficiency
• Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
• Ectodermal dysplasia-skin fragility syndrome - See Ectodermal dysplasia skin fragility syndrome
• Ectomesenchymoma - See Malignant ectomesenchymoma
• Ectopia lentis chorioretinal dystrophy myopia - See Noble Bass Sherman syndrome
• Ectopia lentis syndrome - See Isolated ectopia lentis
• Ectopia lentis, isolated autosomal recessive
• Ectopia pupillae
• Ectopic ACTH syndrome - See Cushing's syndrome
• Ectopic adrenocorticotropic hormone syndrome - See Cushing's syndrome
• Ectopic geographic tongue - See Geographic tongue - not a rare disease
• Ectopic neurohypophysis - See Pituitary stalk interruption syndrome
• Ectopic nipple - See Supernumerary nipple - not a rare disease
• Ectopic ossification familial type - See Progressive osseous heteroplasia
• Ectopic pregnancy
• Ectrodactyly - See Split hand foot malformation
• Ectrodactyly cardiopathy dysmorphism
• Ectrodactyly of lower limbs, congenital heart defect and characteristic facies - See Ectrodactyly cardiopathy dysmorphism
• Ectrodactyly polydactyly
• Ectrodactyly spina bifida cardiopathy - See Kasznica Carlson Coppedge syndrome
• Ectrodactyly with aplasia of long bones - See Cleft hand absent tibia
• Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum - See Saal Bulas syndrome
• Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery - See Kasznica Carlson Coppedge syndrome
• Ectrodactyly-cleft lip/palate syndrome - See EEC syndrome
• Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate - See EEC syndrome
• Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome - See EEC syndrome
• Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome - See EEC syndrome
• Ectropion inferior cleft lip and or palate
• ECYT1 - See Primary familial and congenital polycythemia
• Eczema thrombocytopenia immunodeficiency syndrome - See Wiskott Aldrich syndrome
• ED syndrome - See Ehlers-Danlos syndromes
• ED2 - See Clouston syndrome
• ED4 - See Bustos Simosa Pinto Cisternas syndrome
• EDA - See Hypohidrotic ectodermal dysplasia
• Edema of the optic disc - See Papilledema
• Edinburgh malformation syndrome
• EDM - See Multiple epiphyseal dysplasia
• EDM1 - See Multiple epiphyseal dysplasia 1
• EDM2 - See Multiple epiphyseal dysplasia 2
• EDM3 - See Multiple epiphyseal dysplasia 3
• EDM4 - See Multiple epiphyseal dysplasia 4
• EDM5 - See Multiple epiphyseal dysplasia 5
• EDMD - See Emery-Dreifuss muscular dystrophy
• EDMD1 - See Emery-Dreifuss muscular dystrophy, X-linked
• EDS - See Ehlers-Danlos syndromes
• EDS 11 (formerly) - See Familial joint instability syndrome
• EDS 6 (formerly) - See Kyphoscoliotic Ehlers-Danlos syndrome
• EDS due to TNX deficiency - See Classical-like Ehlers-Danlos syndrome
• EDS IV - See Vascular Ehlers-Danlos syndrome
• EDS IV (formerly) - See Vascular Ehlers-Danlos syndrome
• EDS IX (formerly) - See Occipital horn syndrome
• EDS type 4 - See Vascular Ehlers-Danlos syndrome
• EDS type 4 (formerly) - See Vascular Ehlers-Danlos syndrome
• EDS VIA - See Kyphoscoliotic Ehlers-Danlos syndrome
• EDS VIB (formerly) - See Brittle cornea syndrome
• EDS VIII - See Periodontal Ehlers-Danlos syndrome
• EDS VIII (formerly) - See Periodontal Ehlers-Danlos syndrome
• EDS, cardiac valvular type - See Cardiac-Valvular Ehlers-Danlos syndrome
• EDS, classic-like type - See Classical-like Ehlers-Danlos syndrome
• EDS, kyphoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
• EDS, oculoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
• EDS10 (formerly) - See Ehlers-Danlos syndrome, dysfibronectinemic type
• EDS3 (formerly) - See Hypermobile Ehlers-Danlos syndrome
• EDS4 (formerly) - See Vascular Ehlers-Danlos syndrome
• EDS7A (formerly) - See Arthrochalasia Ehlers-Danlos syndrome
• EDS8 (formerly) - See Periodontal Ehlers-Danlos syndrome
• Edström Myopathy - See Hereditary proximal myopathy with early respiratory failure
• Edwards Patton Dilly syndrome - See Nephropathy, deafness, and hyperparathyroidism
• Edwards syndrome - See Trisomy 18
• EEC - See Exstrophy-epispadias complex
• EEC syndrome
• EEE - See Eastern equine encephalitis
• EEM syndrome
• EEOC - See CHD2 myoclonic encephalopathy
• EF - See Eosinophilic fasciitis
• EFMR - See PCDH19-related female-limited epilepsy
• Egg shaped pupils
• EGPA - See Eosinophilic granulomatosis with polyangiitis
• EHK - See Epidermolytic ichthyosis
• Ehlers Danlos syndrome - See Ehlers-Danlos syndromes
• Ehlers Danlos syndrome, arterial type - See Vascular Ehlers-Danlos syndrome
• Ehlers Danlos syndrome, ecchymotic type - See Vascular Ehlers-Danlos syndrome
• Ehlers Danlos syndrome, Sack-Barabas type - See Vascular Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome due to tenascin-X deficiency - See Classical-like Ehlers-Danlos syndrome
• Ehlers-danlos syndrome oculoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 1 (formerly) - See Classical Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 10 (formerly) - See Ehlers-Danlos syndrome, dysfibronectinemic type
• Ehlers-Danlos syndrome type 2 (formerly) - See Classical Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 3 (formerly) - See Hypermobile Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 4 - See Vascular Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 4 (formerly) - See Vascular Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 6 (formerly) - See Kyphoscoliotic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 6A - See Kyphoscoliotic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 6A (formerly) - See Kyphoscoliotic Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 6B (formerly) - See Brittle cornea syndrome
• Ehlers-Danlos syndrome type 7A (formerly) - See Arthrochalasia Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 7C (formerly) - See Dermatosparaxis Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 8 - See Periodontal Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type 8 (formerly) - See Periodontal Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type IV - See Vascular Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome type IV (formerly) - See Vascular Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality - See Ehlers-Danlos syndrome, dysfibronectinemic type