E | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

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

• 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 urethral obstruction sequence - See Urethral obstruction sequence
• Early-onset anterior polar cataract
• Early-onset anterior subcapsular cataract - See Early-onset anterior polar cataract
• Early-onset ataxia with oculomotor apraxia and hypoalbuminemia - See Ataxia with oculomotor apraxia type 1
• Early-onset autosomal dominant Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Early-onset cerebellar ataxia with hypoalbuminemia - See Ataxia with oculomotor apraxia type 1
• Early-onset familial autosomal dominant Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Early-onset familial form of Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Early-onset generalized dystonia - See DYT-TOR1A
• Early-onset multiple carboxylase deficiency - See Holocarboxylase synthetase deficiency
• Early-onset myopathy, areflexia, respiratory distress and dysphagia
• Early-onset Parkinson disease - See Autosomal recessive juvenile Parkinson disease
• Early-onset parkinsonism-intellectual disability syndrome
• Early-onset primary dystonia - See DYT-TOR1A
• Early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline - See Karak syndrome
• Early-onset regressive form of metaphyseal dysplasia - See Metaphyseal anadysplasia
• Early-Onset Torsion Dystonia - See DYT-TOR1A
• Early-onset vitelliform macular dystrophy - See Best vitelliform macular dystrophy
• Early-onset zonular cataract
• Early-onset, autosomal dominant Alzheimer disease
• Ears prominent and constricted - See Auriculo-condylar syndrome
• EAST syndrome - See SeSAME syndrome
• Eastern equine encephalitis
• Eastman Bixler syndrome - See Faciocardiorenal syndrome
• EATCL - See Enteropathy-associated T-cell lymphoma
• Eaton Lambert syndrome - See Lambert Eaton myasthenic syndrome
• EB - See Epidermolysis bullosa
• EB acquisita - See Epidermolysis bullosa acquisita
• EB progressive - See Junctional epidermolysis bullosa
• EBA - See Epidermolysis bullosa acquisita
• EBLA - See Epidermolysis bullosa, lethal acantholytic
• EBM - See Bullous dystrophy hereditary macular type
• Ebola virus disease
• EBS with mottled pigmentation - See Epidermolysis bullosa simplex with mottled pigmentation
• EBS, generalized - See Epidermolysis bullosa simplex, generalized
• EBS-DM - See Epidermolysis bullosa simplex, Dowling-Meara type
• EBS-K - See Epidermolysis bullosa simplex, generalized
• EBS-loc - See Epidermolysis bullosa simplex, localized
• EBS-MD - See Epidermolysa bullosa simplex with muscular dystrophy
• EBS-MP - See Epidermolysis bullosa simplex with mottled pigmentation
• EBS-OG - See Epidermolysis bullosa simplex, Ogna type
• Ebstein anomaly - See Ebstein's anomaly
• Ebstein's anomaly
• Ebstein's malformation - See Ebstein's anomaly
• EBV infection, severe, susceptibility to - See X-linked lymphoproliferative syndrome
• EBVS - See X-linked lymphoproliferative syndrome
• Eccentrochondrodysplasia
• ECCL - See Encephalocraniocutaneous lipomatosis
• Eccrine Acrospiroma - See Acrospiroma
• Eccrine mucinous carcinoma
• Eccrine porocarcinoma
• Eccrine porocarcinoma of skin - See Eccrine porocarcinoma
• Eccrine spiradenoma - See Benign eccrine spiradenoma
• Eccrine spiradenoma, benign - See Benign eccrine spiradenoma
• Eccrine spiradenoma, malignant - See Malignant eccrine spiradenoma
• ECD - See Erdheim-Chester disease
• Echinococcosis - See Alveolar echinococcosis
• ECHS1D - See Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
• Eclampsia
• Ectasia or varix of the vein of Galen - See Vein of Galen aneurysm
• Ectasic coloboma - See Morning glory syndrome
• Ectodermal dysplasia
• Ectodermal dysplasia - cataracts - kyphoscoliosis - See Arthrogryposis and ectodermal dysplasia
• Ectodermal dysplasia - skin fragility syndrome - See Ectodermal dysplasia skin fragility syndrome
• Ectodermal dysplasia 1 - See X-linked hypohidrotic ectodermal dysplasia
• Ectodermal dysplasia alopecia preaxial polydactyly
• Ectodermal dysplasia and cerebellar ataxia - See Cerebellar ataxia ectodermal dysplasia
• Ectodermal dysplasia anhidrotic - See Hypohidrotic ectodermal dysplasia
• Ectodermal dysplasia arthrogryposis diabetes mellitus
• Ectodermal dysplasia Bartalos type
• Ectodermal dysplasia Berlin type
• Ectodermal dysplasia blindness
• Ectodermal dysplasia hypohidrotic autosomal dominant - See Hypohidrotic ectodermal dysplasia autosomal dominant
• Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
• Ectodermal dysplasia intellectual disability CNS malformation
• Ectodermal dysplasia Margarita island type - See Bustos Simosa Pinto Cisternas syndrome
• Ectodermal dysplasia Margarita type
• Ectodermal dysplasia neurosensory deafness
• Ectodermal dysplasia osteosclerosis - See Cote Katsantoni syndrome
• Ectodermal dysplasia skin fragility syndrome
• Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract - SeeArthrogryposis and ectodermal dysplasia
• Ectodermal dysplasia trichoodontoonychial type
• Ectodermal dysplasia type 4 - See Bustos Simosa Pinto Cisternas syndrome
• Ectodermal dysplasia with corkscrew hairs - See Trueb Burg Bottani syndrome
• Ectodermal dysplasia with natal teeth Turnpenny type
• Ectodermal dysplasia, 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 Acrocephalopolydactyly
• 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 - SeeAicardi-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 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 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 Erythrokeratoderma ''en cocardes''
• Erythrokeratoderma ''en cocardes''
• Erythrokeratoderma en cocardes (Degos syndrome) - See Erythrokeratoderma ''en cocardes''
• 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 Essential fructosuria - not a rare disease
• Essential 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) - SeeFertile 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