List of rare diseases-E

NIH genetic and rare disease info

• NIH info on List of rare diseases-E

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

• NIH info on List of rare diseases-E

List of rare diseases-E is a rare disease.