List of rare diseases-E
NIH genetic and rare disease info[edit source]
List of rare diseases-E is a rare disease.
- E3 deficiency
- E3-deficient maple syrup urine disease
- EA syndrome
- EA2
- EAF
- Eagle syndrome
- Eagle-Barrett syndrome
- Eagle's syndrome
- Eales disease
- EAOH
- Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
- Ear deformity and conductive hearing loss
- Ear, patella, short stature syndrome
- Early balding, patella luxation, acromicria and hypogonadism
- Early cutaneous photosensitivity and severe colitis
- Early Infantile Epileptic Encephalopathy
- Early Infantile Epileptic Encephalopathy 12
- Early infantile epileptic encephalopathy 14
- Early infantile epileptic encephalopathy 18
- Early infantile epileptic encephalopathy 20
- Early infantile epileptic encephalopathy 25
- Early infantile epileptic encephalopathy 26
- Early infantile epileptic encephalopathy 4
- Early infantile epileptic encephalopathy-10
- Early infantile epileptic encephalopathy-13
- Early infantile epileptic encephalopathy-17
- Early infantile epileptic encephalopathy-2
- Early infantile epileptic encephalopathy-50
- Early infantile epileptic encephalopathy-64
- Early onset lymphedema
- Early onset torsion dystonia
- Early urethral obstruction sequence
- Early-onset anterior polar cataract
- Early-onset anterior subcapsular cataract
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
- Early-onset autosomal dominant Alzheimer disease
- Early-onset cerebellar ataxia with hypoalbuminemia
- Early-onset familial autosomal dominant Alzheimer disease
- Early-onset familial form of Alzheimer disease
- Early-onset generalized dystonia
- Early-onset multiple carboxylase deficiency
- Early-onset myopathy, areflexia, respiratory distress and dysphagia
- Early-onset Parkinson disease
- Early-onset parkinsonism-intellectual disability syndrome
- Early-onset primary dystonia
- Early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline
- Early-onset regressive form of metaphyseal dysplasia
- Early-Onset Torsion Dystonia
- Early-onset vitelliform macular dystrophy
- Early-onset zonular cataract
- Early-onset, autosomal dominant Alzheimer disease
- Ears prominent and constricted
- EAST syndrome
- Eastern equine encephalitis
- Eastman Bixler syndrome
- EATCL
- Eaton Lambert syndrome
- EB
- EB acquisita
- EB progressive
- EBA
- EBLA
- EBM
- Ebola virus disease
- EBS with mottled pigmentation
- EBS, generalized
- EBS-DM
- EBS-K
- EBS-loc
- EBS-MD
- EBS-MP
- EBS-OG
- Ebstein anomaly
- Ebstein's anomaly
- Ebstein's malformation
- EBV infection, severe, susceptibility to
- EBVS
- Eccentrochondrodysplasia
- ECCL
- Eccrine Acrospiroma
- Eccrine mucinous carcinoma
- Eccrine porocarcinoma
- Eccrine porocarcinoma of skin
- Eccrine spiradenoma
- Eccrine spiradenoma, benign
- Eccrine spiradenoma, malignant
- ECD
- Echinococcosis
- ECHS1D
- Eclampsia
- Ectasia or varix of the vein of Galen
- Ectasic coloboma
- Ectodermal dysplasia
- Ectodermal dysplasia - cataracts - kyphoscoliosis
- Ectodermal dysplasia - skin fragility syndrome
- Ectodermal dysplasia 1
- Ectodermal dysplasia alopecia preaxial polydactyly
- Ectodermal dysplasia and cerebellar ataxia
- Ectodermal dysplasia anhidrotic
- Ectodermal dysplasia arthrogryposis diabetes mellitus
- Ectodermal dysplasia Bartalos type
- Ectodermal dysplasia Berlin type
- Ectodermal dysplasia blindness
- Ectodermal dysplasia hypohidrotic autosomal dominant
- Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia
- Ectodermal dysplasia intellectual disability CNS malformation
- Ectodermal dysplasia Margarita island type
- Ectodermal dysplasia Margarita type
- Ectodermal dysplasia neurosensory deafness
- Ectodermal dysplasia osteosclerosis
- Ectodermal dysplasia skin fragility syndrome
- Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract
- Ectodermal dysplasia trichoodontoonychial type
- Ectodermal dysplasia type 4
- Ectodermal dysplasia with corkscrew hairs
- Ectodermal dysplasia with natal teeth Turnpenny type
- Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
- Ectodermal dysplasia, hidrotic
- Ectodermal dysplasia, hidrotic, Christianson-Fourie type
- Ectodermal dysplasia, hypohidrotic
- Ectodermal dysplasia, hypohidrotic, with acanthosis nigricans
- Ectodermal dysplasia, hypohidrotic, with immune deficiency
- Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- Ectodermal dysplasia-skin fragility syndrome
- Ectomesenchymoma
- Ectopia lentis chorioretinal dystrophy myopia
- Ectopia lentis syndrome
- Ectopia lentis, isolated autosomal recessive
- Ectopia pupillae
- Ectopic ACTH syndrome
- Ectopic adrenocorticotropic hormone syndrome
- Ectopic geographic tongue- not a rare disease.
- Ectopic neurohypophysis
- Ectopic nipple- not a rare disease.
- Ectopic ossification familial type
- Ectopic pregnancy
- Ectrodactyly
- Ectrodactyly cardiopathy dysmorphism
- Ectrodactyly of lower limbs, congenital heart defect and characteristic facies
- Ectrodactyly polydactyly
- Ectrodactyly spina bifida cardiopathy
- Ectrodactyly with aplasia of long bones
- Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum
- Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery
- Ectrodactyly-cleft lip/palate syndrome
- Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
- Ectropion inferior cleft lip and or palate
- ECYT1
- Eczema thrombocytopenia immunodeficiency syndrome
- ED syndrome
- ED2
- ED4
- EDA
- Edema of the optic disc
- Edinburgh malformation syndrome
- EDM
- EDM1
- EDM2
- EDM3
- EDM4
- EDM5
- EDMD
- EDMD1
- EDS
- EDS 11 (formerly)
- EDS 6 (formerly)
- EDS due to TNX deficiency
- EDS IV
- EDS IV (formerly)
- EDS IX (formerly)
- EDS type 4
- EDS type 4 (formerly)
- EDS VIA
- EDS VIB (formerly)
- EDS VIII
- EDS VIII (formerly)
- EDS, cardiac valvular type
- EDS, classic-like type
- EDS, kyphoscoliotic type
- EDS, oculoscoliotic type
- EDS10 (formerly)
- EDS3 (formerly)
- EDS4 (formerly)
- EDS7A (formerly)
- EDS8 (formerly)
- Edström Myopathy
- Edwards Patton Dilly syndrome
- Edwards syndrome
- EEC
- EEC syndrome
- EEE
- EEM syndrome
- EEOC
- EF
- EFMR
- Egg shaped pupils
- EGPA
- EHK
- Ehlers Danlos syndrome
- Ehlers Danlos syndrome, arterial type
- Ehlers Danlos syndrome, ecchymotic type
- Ehlers Danlos syndrome, Sack-Barabas type
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Ehlers-danlos syndrome oculoscoliotic type
- Ehlers-Danlos syndrome type 1 (formerly)
- Ehlers-Danlos syndrome type 10 (formerly)
- Ehlers-Danlos syndrome type 2 (formerly)
- Ehlers-Danlos syndrome type 3 (formerly)
- Ehlers-Danlos syndrome type 4
- Ehlers-Danlos syndrome type 4 (formerly)
- Ehlers-Danlos syndrome type 6 (formerly)
- Ehlers-Danlos syndrome type 6A
- Ehlers-Danlos syndrome type 6A (formerly)
- Ehlers-Danlos syndrome type 6B (formerly)
- Ehlers-Danlos syndrome type 7A (formerly)
- Ehlers-Danlos syndrome type 7C (formerly)
- Ehlers-Danlos syndrome type 8
- Ehlers-Danlos syndrome type 8 (formerly)
- Ehlers-Danlos syndrome type IV
- Ehlers-Danlos syndrome type IV (formerly)
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
- Ehlers-Danlos syndrome, arthrochalasia type
- EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
- Ehlers-Danlos syndrome, cardiac valvular type
- Ehlers-Danlos syndrome, classic type
- Ehlers-Danlos syndrome, classic-like type
- Ehlers-Danlos syndrome, dermatosparaxis type
- Ehlers-Danlos syndrome, dysfibronectinemic type
- Ehlers-Danlos syndrome, hypermobility type
- Ehlers-Danlos syndrome, kyphoscoliosis type
- Ehlers-Danlos syndrome, kyphoscoliotic type
- Ehlers-Danlos syndrome, musculocontractural type
- Ehlers-Danlos syndrome, occipital horn type (formerly)
- Ehlers-Danlos syndrome, oculoscoliotic type
- Ehlers-Danlos syndrome, periodontitis type
- EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE
- Ehlers-Danlos syndrome, progeroid type (former)
- Ehlers-danlos syndrome, type 11 (formerly)
- Ehlers-Danlos syndrome, type VIII (formerly)
- Ehlers-Danlos syndrome, type X (formerly)
- Ehlers-Danlos syndrome, vascular type
- Ehlers-Danlos syndromes
- Ehrlichiosis
- Ehrmann-Sneddon syndrome
- EIEE10
- EIEE12
- EIEE13
- EIEE14
- EIEE25
- EIEE26
- EIEE4
- EIEE9
- Eisenmenger syndrome
- EJM
- EKV
- EKVP
- Elastoderma
- Elastoma intrapapillare perforans verruciformis
- Elastosis perforans serpiginosa
- Elective mutism
- Elejalde syndrome
- Elephantiasis
- Elephantitis
- Elevated dark spiny papules on the face or trunk
- Elizabethkingia anophelis infection
- Elliott Ludman Teebi syndrome
- Ellis Yale Winter syndrome
- Ellis-Van Creveld syndrome
- Elongated styloid process syndrome
- Elongated styloid process which causes cervico facial pain tinnitus and otalgia
- ELP2-related disorder
- Elsahy-Waters syndrome
- Elschnig syndrome
- ELST
- EM
- EMA
- Emanuel syndrome
- EMARDD
- Emberger syndrome
- Embolism, fibrocartilaginous
- Embryofetopathy due to oral anticoagulant therapy
- Embryonal carcinoma
- Embryonal rhabdomyosarcoma
- Embryonal sarcoma
- Embryonal tumor with abundant neuropil and true rosettes
- Embryonal tumor with multilayered rosettes
- EMC
- EME
- Emerinopathy
- Emery-Dreifuss muscular dystrophy
- Emery-Dreifuss muscular dystrophy, dominant type
- Emery-Dreifuss muscular dystrophy, X-linked
- Emery-Nelson syndrome
- EMG Syndrome
- Emotional incontinence- not a rare disease.
- Emotional lability- not a rare disease.
- EMPD
- Empeines
- Emphysema, congenital lobar
- Empty scrotum
- Empty sella syndrome
- Empty sella turcica
- EMS
- En coup de sabre
- Enamel hypoplasia and hypocalcification with associated strikingly curly hair
- Enamel hypoplasia cataract hydrocephaly
- Enamel hypoplasia X-linked
- Enamel hypoplasia, capsular cataracts, and ductal stenosis
- Enamel hypoplasia, X-linked
- Enamel renal syndrome
- Enamel-renal syndrome
- Encephalitis lethargica
- Encephalitis periaxialis concentrica
- Encephalocele
- Encephalocele anencephaly
- Encephalocraniocutaneous lipomatosis
- Encephalofacial angiomatosis
- Encephalomeningocele
- Encephalomyopathic mitochondrial DNA depletion syndrome-13
- Encephalomyopathic type with renal tubulopathy
- Encephalopathy due to GLUT1 deficiency
- Encephalopathy due to prosaposin deficiency
- Encephalopathy fatal infantile with mitochondrial respiratory chain defects
- Encephalopathy fatal infantile with olivopontocerebellar hypoplasia
- Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
- Encephalopathy of childhood
- Encephalopathy recurrent of childhood
- Encephalopathy subacute spongiform Gerstmann-Straussler type
- Encephalopathy with basal ganglia calcification
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
- Encephalopathy, ethylmalonic
- Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
- Encephalopathy, familial, with Collins bodies
- Encephalopathy, hepatic
- Encephalopathy, petechiae, and ethylmalonic aciduria
- Encephalotrigeminal angiomatosis
- Enchondroma
- Enchondromatosis
- Enchondromatosis dwarfism deafness
- Enchondromatosis with Multiple Cavernous Hemangiomas
- Endemic Kaposi sarcoma
- Endemic pemphigus foliaceus
- Endemic syphilis
- Endemic treponematoses
- Endemic treponematosis caused by Treponema carateum
- Endemic typhus
- Endocardial fibroelastosis
- Endocarditis, infective
- Endocrine adenomatosis multiple
- Endodermal-sinus tumor
- Endoepithelial corneal dystrophy- not a rare disease.
- Endogenous hypertriglyceridaemia
- Endolymphatic sac tumor
- Endometrial Adenosquamous Cancer
- Endometrial Adenosquamous Carcinoma
- Endometrial stromal sarcoma
- Endomyocardial fibroelastosis
- Endomyocardial fibrosis
- Endosteal hyperostosis autosomal recessive
- Endosteal hyperostosis, autosomal dominant
- Endosteal hyperostosis, Worth type
- ENFL1
- Engelhard Yatziv syndrome
- Engelmann disease
- Engraftment syndrome
- Enhanced S-cone syndrome
- Enlarged heart and poor heart function
- Enlarged tongue
- Enlarged vestibular aqueduct syndrome
- Enolase 3 deficiency
- Enolase-beta deficiency
- Enteric fever
- Enteritis- not a rare disease.
- Enterocolitis, necrotizing
- Enterocyte cobalamin malabsorption
- Enteropathica
- Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy
- Enteropathy-associated T-cell lymphoma
- Enterovesical fistula
- Enterovirus antenatal infection
- Enthesitis related arthritis, juvenile
- Enthesitis-related arthritis
- Enthesitis-related JIA
- Enthesitis-related juvenile idiopathic arthritis
- EOC
- EOCA
- EOCA-HA
- EOF
- EOFAD
- Eosinophil peroxidase deficiency
- Eosinophil peroxidase deficiency, partial
- Eosinophilia-myalgia syndrome
- Eosinophilic angiocentric fibrosis
- Eosinophilic cellulitis
- Eosinophilic cryptitis
- Eosinophilic cystitis
- Eosinophilic enteritis
- Eosinophilic enteropathy
- Eosinophilic esophagitis
- Eosinophilic fasciitis
- Eosinophilic folliculitis
- Eosinophilic folliculitis, pustular
- Eosinophilic gastritis
- Eosinophilic gastroenteritis
- Eosinophilic gastroenteropathy
- Eosinophilic glassy cell hepatoma
- Eosinophilic granuloma of soft tissue
- Eosinophilic granulomatosis with polyangiitis
- Eosinophilic hepatocellular carcinoma with lamellar fibrosis
- Eosinophilic hyperplastic lymphogranuloma
- Eosinophilic idiopathic chronic pneumopathy
- Eosinophilic lymphofollicular granuloma
- Eosinophilic lymphofolliculosis
- Eosinophilic lymphogranuloma
- Eosinophilic mastitis
- Eosinophilic pustular folliculitis
- EOTD
- EPEMA syndrome
- Ependymoblastoma
- Ependymoma
- Ependymoma, familial
- EPF
- Epidemic typhus
- Epidermal nevus- not a rare disease.
- Epidermal nevus vitamin D resistant rickets
- Epidermodysplasia verruciformis
- Epidermoid brain cyst
- Epidermoid brain tumor
- Epidermoid carcinoma- not a rare disease.
- Epidermolysa bullosa simplex and limb girdle muscular dystrophy
- Epidermolysa bullosa simplex with muscular dystrophy
- Epidermolysis bullosa
- Epidermolysis bullosa acquisita
- Epidermolysis bullosa atrophicans
- Epidermolysis bullosa dystrophica
- Epidermolysis bullosa dystrophica, autosomal dominant
- Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)
- Epidermolysis bullosa dystrophica, dominant neonatal form
- Epidermolysis bullosa dystrophica, Pasini type (formerly)
- Epidermolysis bullosa herpetiformis, Dowling-Meara type
- Epidermolysis bullosa intraepidermic
- Epidermolysis bullosa junctionalis with pyloric atresia
- Epidermolysis bullosa junctionalis, non-Herlitz type
- Epidermolysis bullosa letalis
- Epidermolysis bullosa macular type
- Epidermolysis bullosa of hands and feet
- Epidermolysis bullosa simplex
- Epidermolysis bullosa simplex - limb girdle muscular dystrophy
- Epidermolysis bullosa simplex due to plakophilin deficiency
- Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders
- Epidermolysis bullosa simplex of palms and soles
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex, generalized
- Epidermolysis bullosa simplex, generalized non-Dowling-Meara
- Epidermolysis bullosa simplex, herpetiformis
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, localized
- Epidermolysis bullosa simplex, Ogna type
- Epidermolysis bullosa simplex, Weber-Cockayne type
- Epidermolysis bullosa with pyloric atresia
- Epidermolysis bullosa, dermolytic
- Epidermolysis bullosa, junctional
- Epidermolysis bullosa, junctional, Herlitz type
- Epidermolysis bullosa, junctional, Herlitz-Pearson type
- Epidermolysis bullosa, junctional, non-Herlitz type
- Epidermolysis bullosa, lethal acantholytic
- epidermolytic hyperkeratosis
- Epidermolytic ichthyosis
- Epidermolytic palmoplantar keratoderma
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner
- Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
- Epilepsy - microcephaly - skeletal dysplasia
- Epilepsy and mental retardation limited to females
- Epilepsy and yellow teeth
- Epilepsy dementia amelogenesis imperfecta
- Epilepsy juvenile absence
- Epilepsy mental deterioration Finnish type
- Epilepsy occipital calcifications
- Epilepsy of infancy with migrating focal seizures
- Epilepsy progressive myoclonic 2
- Epilepsy progressive myoclonic type 3
- Epilepsy syndrome, infantile-onset symptomatic
- Epilepsy telangiectasia
- Epilepsy with bilateral occipital calcifications
- Epilepsy with myoclonic-astatic seizures
- Epilepsy with myoclonic-atonic seizures
- Epilepsy with myoclono-astatic crisis
- Epilepsy, ataxia, sensorineural deafness and tubulopathy
- Epilepsy, benign neonatal, with Myokymia
- Epilepsy, benign neonatal-infantile
- Epilepsy, benign occipital
- Epilepsy, familial temporal lobe
- Epilepsy, female restricted, with mental retardation
- Epilepsy, nocturnal frontal lobe, 1
- Epilepsy, partial, familial
- Epilepsy, progressive myoclonic type 1
- Epilepsy, progressive myoclonus 1
- Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
- Epileptic encephalopathy Lennox-Gastaut type
- Epileptic encephalopathy with continuous spike-and-wave during slow sleep
- Epileptic encephalopathy, childhood-onset
- Epileptic encephalopathy, early infantile, 10
- Epileptic encephalopathy, early infantile, 12
- Epileptic Encephalopathy, early infantile, 13
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22
- Epileptic encephalopathy, early infantile, 9
- Epimerase deficiency galactosemia
- Epimetaphyseal dysplasia cataract
- Epiphyseal dysplasia dysmorphism camptodactyly
- Epiphyseal dysplasia hearing loss dysmorphism
- Epiphyseal dysplasia multiple 1
- Epiphyseal dysplasia multiple 2
- Epiphyseal dysplasia multiple 3
- Epiphyseal dysplasia multiple 4
- Epiphyseal dysplasia multiple 5
- Epiphyseal dysplasia multiple with early-onset diabetes mellitus
- Epiphyseal dysplasia, microcephaly and nystagmus
- Epiphyseal dysplasia, multiple
- Epiphyseal stippling with osteoclastic hyperplasia
- Epiphysiolysis of the hip- not a rare disease.
- Epiphysiolysis of the upper femur- not a rare disease.
- Episkopi blindness
- Episodic angioedema with eosinophilia
- Episodic ataxia
- Episodic Ataxia syndrome
- Episodic ataxia type 2
- Episodic ataxia with nystagmus
- Episodic encephalopathy due to thiamine pyrophosphokinase deficiency
- Episodic kinesigenic dyskinesia 1
- Epithelial basement membrane corneal dystrophy
- Epithelial ependymoma
- Epithelial myoepithelial carcinoma
- Epithelial ovarian cancer
- Epithelial tumor of thymus
- Epithelial-myoepithelial carcinoma
- Epithelioid sarcoma
- Epithelioma adenoides cysticum
- Epitheliopathy, acute posterior multifocal placoid pigment
- EPM 3
- EPM1
- EPM2
- EPM6
- EPP
- EPPK
- EPS
- Epstein Barr virus infection, familial fatal
- Epstein syndrome
- EPXD
- Equine morbillivirus (formerly)
- ERA
- Erb-Goldflam syndrome
- Erdheim Chester disease
- Erdheim cystic medial necrosis of aorta
- Erdheim disease
- Erdheim-Chester disease
- Ergotism
- Erlacher-Blount syndrome
- Ermine phenotype
- ERMS
- Erosive adenomatosis of the nipple
- Erosive pustular dermatosis of the scalp
- Erosive vitreoretinopathy
- ERS
- ERS
- ERVR
- Erysipelas
- Erythema elevatum diutinum
- Erythema migrans- not a rare disease.
- Erythema multiforme
- Erythema multiforme bullosum
- Erythema nodosum of unknown etiology
- Erythema nodosum, familial
- Erythema nodosum, idiopathic
- Erythema polymorphe, erythema multiforme type
- Erythroblastic anemia
- Erythroblastopenia, transient
- Erythrocytosis autosomal dominant benign
- Erythroderma desquamativum
- Erythrodermic ichthyosis
- Erythrogenesis imperfecta
- Erythrohepatic protoporphyria
- Erythroid 5-aminolevulinate synthase deficiency
- Erythrokeratoderma "en cocardes"
- Erythrokeratoderma ''en cocardes''
- Erythrokeratoderma en cocardes (Degos syndrome)
- Erythrokeratodermia - ataxia
- Erythrokeratodermia figurata, congenital familial, in plaques
- Erythrokeratodermia variabilis
- Erythrokeratodermia variabilis et progressiva
- Erythrokeratodermia variabilis with erythema gyratum repens
- Erythrokeratodermia variabilis, Mendes da Costa type
- Erythrokeratodermia with ataxia
- Erythrokeratodermia, progressive symmetric
- Erythrokeratolysis hiemalis ichthyosis
- Erythroleukemia
- Erythromelalgia
- Erythroplakia
- Erythropoietic protoporphyria
- Erythropoietic uroporphyria associated with myeloid malignancy
- ES
- Escher Hirt syndrome
- Escobar syndrome
- Escobar syndrome, type B
- Escobar variant multiple pterygium syndrome
- Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis
- Esophageal achalasia
- Esophageal atresia
- Esophageal atresia coloboma talipes
- Esophageal cancer
- Esophageal varices
- Esophagitis-peptic ulcer- not a rare disease.
- Esophagogastric and vulvar leiomyomatosis
- Esophagus cancer
- Esotropia
- ESS
- ESS1 (formerly)
- Essential benign fructosuria- not a rare disease.
- Essential fructosuria- not a rare disease.
- Essential thrombocythemia
- Essential thrombocytosis
- Essential tremor- not a rare disease.
- EST
- Esthesioneuroblastoma
- ETANTR
- Ethylmalonic encephalopathy
- Ethylmalonic-adipicaciduria
- ETL1
- ETM1
- ETM2
- ETMR
- Eulenburg disease
- Eunuchoidism familial hypogonadotropic
- Eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)
- EUOS
- Evan syndrome
- Evans syndrome
- EVMPS
- Ewing family of tumors
- Ewing sarcoma
- Ewing tumor
- Ewing’s tumor of bone (type)
- Ewing's family of tumors
- Ewing's sarcoma
- Ewing's tumor
- Exaggerated physiologic speckled mottling of skin
- Exaggerated startle reaction
- Exaggerated startle reflex
- Excess of mature unencapsulated fatty tissue in the pelvis
- Exencephaly
- Exercise induced hyperinsulinemic hypoglycemia
- Exercise-induced anaphylaxis
- Exercise-induced hyperinsulinemic hypoglycemia
- Exertional headache
- Exfoliative dermatitis
- Exogenous lipoid pneumonia
- Exogenous ochronosis
- Exomphalos macroglossia gigantism syndrome
- Exophthalmic goiter- 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
- Expanded spectrum of hemifacial microsomia
- Expansile osteolysis, familial
- Experimental silicosis
- Exstrophy of the bladder
- Exstrophy-epispadias complex
- Extra digits
- Extra nipple- not a rare disease.
- Extracardiac Rhabdomyoma
- Extracranial arteriovenous malformation
- Extracranial AVM
- Extragonadal germ cell tumor
- Extrahepatic bile duct cancer
- Extramammary Paget disease
- Extramedullary myeloid tumor
- Extramembranous glomerulonephritis
- Extranodal nasal NK/T cell lymphoma
- Extraosseous Ewing’s (tumor growing outside of the bone) (type)
- Extraovarian Brenner tumor of the vagina
- Extrasystoles short stature hyperpigmentation microcephaly
- Extreme hirsutism with gingival fibromatosis
- Extrinsic allergic pneumonia hypersensitivity Pneumonitis
- Exudative retinopathy with bone marrow failure
- Exudative vitreoretinopathy, familial
- Exulceratio simplex Dieulafoy
- Eye cancer, retinoblastoma
- Eye defects arachnodactyly cardiopathy
- Eyebrows duplication of, with stretchable skin and syndactyly
- Eyelashes, long with intellectual disability
- EZH2 Related Overgrowth
NIH genetic and rare disease info[edit source]
List of rare diseases-E is a rare disease.
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suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Contributors: Prab R. Tumpati, MD