Browse A-Z

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 - See Arthrogryposis 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, ectrodactyly, and macular dystrophy syndrome - 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
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
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 - See Aicardi-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
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 - See Endocardial 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
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
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 Palmoplantar keratoderma, epidermolytic
EPPK - See Epidermolytic palmoplantar keratoderma
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 hypoplastic type, IG
ERS - See Amelogenesis imperfecta nephrocalcinosis
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 desquamativum - See Leiner disease
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
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) - See Fertile 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 - not a rare 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