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Rare conditions starting with E
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199 conditions starting with E
- Eales disease
- Early onset cerebellar ataxia with retained tendon reflexes
- Early urethral obstruction sequence
- Early-infantile DEE
- Early-onset anterior polar cataract
- Early-onset autosomal dominant Alzheimer disease
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Early-onset generalized dystonia
- Early-onset generalized limb-onset dystonia
- Early-onset Lafora body disease
- Early-onset myopathy with fatal cardiomyopathy
- Early-onset non-syndromic cataract
- Early-onset parkinsonism-intellectual disability syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
- Early-onset zonular cataract
- EAST syndrome
- Eastern equine encephalitis
- Eaton-Lambert syndrome
- Ebola hemorrhagic fever
- Ebstein anomaly
- Eccrine porocarcinoma
- Ectodermal dysplasia
- Ectodermal dysplasia 8, hair/tooth/nail type
- Ectodermal dysplasia alopecia preaxial polydactyly
- Ectodermal dysplasia and immune deficiency
- Ectodermal dysplasia with natal teeth, Turnpenny type
- Ectodermal dysplasia-blindness syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Ectodermal dysplasia-sensorineural deafness syndrome
- Ectodermal dysplasia-syndactyly syndrome
- Ectodermal dysplasia, trichoodontoonychial type
- Ectomesenchymoma
- Ectopia lentis 2, isolated, autosomal recessive
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome
- Ectopic Cushing syndrome
- Ectopic thyroid
- Ectrodactyly
- Ectrodactyly-ectodermal dysplasia-clefting syndrome
- Ectrodactyly-polydactyly syndrome
- EDICT syndrome
- Edinburgh malformation syndrome
- EEM syndrome
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome, cardiac valvular type
- Ehlers-Danlos syndrome, classic type
- Ehlers-Danlos syndrome, classic-like, 2
- Ehlers-Danlos syndrome, dermatosparaxis type
- Ehlers-Danlos syndrome, familial joint laxity type
- Ehlers-Danlos syndrome, fibronectinemic type
- Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- Ehlers-Danlos syndrome, musculocontractural type
- Ehlers-Danlos syndrome, periodontitis type
- Ehlers-Danlos syndrome, type 4
- Ehlers-Danlos/osteogenesis imperfecta syndrome
- Ehrlichiosis
- Eiken syndrome
- Eisenmenger syndrome
- Elastoderma
- Elastosis perforans serpiginosa
- Ellis-van Creveld syndrome
- Elsahy-Waters syndrome
- Emanuel syndrome
- Embryonal carcinoma
- Embryonal rhabdomyosarcoma
- Embryonal tumor with multilayered rosettes
- Emery-Dreifuss muscular dystrophy
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Emery-Nelson syndrome
- EMILIN-1-related connective tissue disease
- Encephalitis due to human herpesvirus 6 infection
- Encephalitis lethargica
- Encephalocraniocutaneous lipomatosis
- Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
- Encephalopathy due to GLUT1 deficiency
- Encephalopathy due to mitochondrial and peroxisomal fission defect
- Encephalopathy due to sulfite oxidase deficiency
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
- Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- Encephalopathy, recurrent, of childhood
- Enchondromatosis
- Endemic Kaposi sarcoma
- Endemic typhus
- Endocardial fibroelastosis
- Endocrine-cerebro-osteodysplasia syndrome
- Endometrial stromal sarcoma
- Endomyocardial fibrosis
- Eng-Strom syndrome
- Engraftment syndrome
- Enterokinase deficiency
- Enteropathy-associated T-cell lymphoma
- Enthesitis-related juvenile idiopathic arthritis
- Eosinophil peroxidase deficiency
- Eosinophilia myalgia syndrome
- Eosinophilic cellulitis
- Eosinophilic gastroenteritis
- Eosinophilic granulomatosis with polyangiitis
- Eosinophilic pustular folliculitis
- Ependymoblastoma
- Ependymoma
- EPHB4-related lymphatic-related hydrops fetalis
- Epiblepharon
- Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
- Epidemic louse-borne typhus
- Epidermal nevus syndrome
- Epidermodysplasia verruciformis
- Epidermolysis bullosa
- Epidermolysis bullosa dystrophica
- Epidermolysis bullosa pruriginosa
- Epidermolysis bullosa simplex
- Epidermolysis bullosa simplex 1A, generalized severe
- Epidermolysis bullosa simplex 1C, localized
- Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
- Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
- Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
- Epidermolysis bullosa simplex 5B, with muscular dystrophy
- Epidermolysis bullosa simplex 5C, with pyloric atresia
- Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
- Epidermolysis bullosa simplex 7, with nephropathy and deafness
- Epidermolysis bullosa simplex due to plakophilin deficiency
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Epidermolysis bullosa simplex with migratory circinate erythema
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Ogna type
- Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
- Epidermolytic ichthyosis
- Epidermolytic nevus
- Epidermolytic palmoplantar keratoderma, 1
- Epilepsy of infancy with migrating focal seizures
- Epilepsy with myoclonic absences
- Epilepsy with myoclonic atonic seizures
- Epilepsy-microcephaly-skeletal dysplasia syndrome
- Epilepsy-telangiectasia syndrome
- Epilepsy, familial focal, with variable foci 1
- Epilepsy, progressive myoclonic, 1B
- Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Epiphyseal dysplasia, multiple, 3
- Epiphyseal dysplasia, multiple, 6
- Episodic angioedema with eosinophilia
- Episodic ataxia type 1
- Episodic ataxia type 2
- Episodic ataxia type 3
- Episodic ataxia type 4
- Episodic ataxia type 5
- Episodic ataxia type 6
- Episodic ataxia type 7
- Episodic ataxia type 8
- Episodic kinesigenic dyskinesia
- Epithelial basement membrane dystrophy
- Epithelial recurrent erosion dystrophy
- Epithelioid hemangioendothelioma
- Epithelioid sarcoma
- Erdheim-Chester disease
- Ermine phenotype
- Erosive pustular dermatosis of the scalp
- Erythema elevatum diutinum
- Erythema palmare hereditarium
- Erythroderma desquamativum
- Erythrokeratoderma en cocardes
- Erythropoietic protoporphyria
- Erythropoietic uroporphyria associated with myeloid malignancy
- Esophageal atresia/tracheoesophageal fistula
- Esophageal duplication cyst
- Essential fructosuria
- Essential pentosuria
- Essential thrombocythemia
- Esthesioneuroblastoma
- Estrogen resistance syndrome
- Ethylmalonic encephalopathy
- Euryblepharon
- Evans syndrome
- Even-plus syndrome
- Ewing sarcoma
- Ewing sarcoma of bone
- Exercise induced anaphylaxis
- Exercise-induced hyperinsulinism
- Exfoliative ichthyosis
- Exostoses-anetodermia-brachydactyly type E syndrome
- Exostoses, multiple, type 1
- Exostoses, multiple, type 2
- Exostoses, multiple, type III
- Exstrophy-epispadias complex
- Extensor tendons of finger anomalies
- External auditory canal atresia-vertical talus-hypertelorism syndrome
- Extragonadal germ cell tumor
- Extragonadal germinoma
- Extramammary Paget disease
- Extranodal nasal NK/T cell lymphoma
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- Eyebrow duplication-syndactyly syndrome
- Eyelid coloboma
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