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Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly. Read more about which diseases are included on the GARD website.

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  • 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, 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 sarcoidosis (former) - See Blau syndrome
  • 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 - See Arthrogryposis and ectodermal dysplasia
  • Ectodermal dysplasia trichoodontoonychial type
  • Ectodermal dysplasia type 4 - See Bustos Simosa Pinto Cisternas syndrome
  • Ectodermal dysplasia with corkscrew hairs - See Trueb Burg Bottani syndrome
  • Ectodermal dysplasia with natal teeth Turnpenny type
  • Ectodermal dysplasia, 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 - See Blepharo-cheilo-odontic syndrome
  • 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
  • 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
  • EGE - See Eosinophilic gastroenteritis
  • 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 Van Creveld syndrome - See Ellis-Van Creveld 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 Blepharo-cheilo-odontic syndrome
  • 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-Nelson syndrome - See Hand and foot deformity with flat facies
  • EMG Syndrome - See Beckwith-Wiedemann syndrome
  • Emotional incontinence - See Pseudobulbar affect - not a rare disease
  • Emotional lability - See Pseudobulbar affect - not a rare disease
  • EMPD - See Extramammary Paget disease
  • Empeines - See Pinta
  • Emphysema, congenital lobar - See Congenital lobar emphysema
  • Empty scrotum - See Anorchia
  • Empty sella syndrome
  • Empty sella turcica - See Empty sella syndrome
  • EMS - See Eosinophilia-myalgia syndrome
  • En coup de sabre - See Linear scleroderma
  • Enamel hypoplasia and hypocalcification with associated strikingly curly hair - See Tricho-dento-osseous syndrome
  • Enamel hypoplasia cataract hydrocephaly
  • Enamel hypoplasia X-linked - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
  • Enamel hypoplasia, capsular cataracts, and ductal stenosis - See Seow Najjar syndrome
  • Enamel hypoplasia, X-linked - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
  • Enamel renal syndrome - See Amelogenesis imperfecta nephrocalcinosis
  • Enamel-renal syndrome - See Amelogenesis imperfecta hypoplastic type, IG
  • Encephalitis lethargica
  • Encephalitis periaxialis concentrica - See Tumefactive multiple sclerosis
  • Encephalocele
  • Encephalocele anencephaly
  • Encephalocraniocutaneous lipomatosis
  • Encephalofacial angiomatosis - See Sturge-Weber syndrome
  • Encephalomeningocele - See Meningoencephalocele
  • Encephalomyopathic mitochondrial DNA depletion syndrome-13 - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
  • Encephalomyopathic type with renal tubulopathy - See RRM2B-related mitochondrial DNA depletion syndrome
  • Encephalopathy due to GLUT1 deficiency - See Glucose transporter type 1 deficiency syndrome
  • Encephalopathy due to prosaposin deficiency - See Sphingolipidosis
  • Encephalopathy fatal infantile with mitochondrial respiratory chain defects - See Pontocerebellar hypoplasia type 6
  • Encephalopathy fatal infantile with olivopontocerebellar hypoplasia - See Pontocerebellar hypoplasia type 4
  • Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
  • Encephalopathy of childhood - See Lennox-Gastaut syndrome
  • Encephalopathy recurrent of childhood
  • Encephalopathy subacute spongiform Gerstmann-Straussler type - See Gerstmann-Straussler-Scheinker disease
  • Encephalopathy with basal ganglia calcification - See Aicardi-Goutieres syndrome
  • Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid - See Aicardi-Goutieres syndrome
  • Encephalopathy, ethylmalonic - See Ethylmalonic encephalopathy
  • Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis - See Aicardi-Goutieres syndrome
  • Encephalopathy, familial, with Collins bodies - See Familial encephalopathy with neuroserpin inclusion bodies
  • Encephalopathy, hepatic - See Hepatic encephalopathy
  • Encephalopathy, petechiae, and ethylmalonic aciduria - See Ethylmalonic encephalopathy
  • Encephalotrigeminal angiomatosis - See Sturge-Weber syndrome
  • Enchondroma
  • Enchondromatosis - See Ollier disease
  • Enchondromatosis dwarfism deafness
  • Enchondromatosis type II (former) - See Maffucci syndrome
  • Enchondromatosis with hemangiomata - See Maffucci syndrome
  • 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
  • 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 gastroenteritis
  • Eosinophilic esophagitis - See Eosinophilic gastroenteritis
  • Eosinophilic fasciitis
  • Eosinophilic folliculitis - See Eosinophilic pustular folliculitis
  • Eosinophilic folliculitis, pustular - See Eosinophilic pustular folliculitis
  • Eosinophilic gastritis - See Eosinophilic gastroenteritis
  • Eosinophilic gastroenteritis
  • Eosinophilic gastroenterocolitis - See Eosinophilic gastroenteritis
  • Eosinophilic gastroenteropathy - See Eosinophilic gastroenteritis
  • 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 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 of infancy with migrating focal seizures - See Malignant migrating partial seizures of infancy
  • 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, 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
  • Epiphysiolysis of the hip - See Slipped capital femoral epiphysis - not a rare disease
  • Epiphysiolysis of the upper femur - See Slipped capital femoral epiphysis - not a rare disease
  • 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
  • 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 Autosomal 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 (subtype) - See MYH9 related thrombocytopenia
  • EPXD - See Eosinophil peroxidase deficiency
  • Equine morbillivirus (formerly) - See Nipah virus encephalitis
  • ERA - See Enthesitis-related juvenile idiopathic arthritis
  • 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
  • Erythrodermic ichthyosis - See Nonbullous congenital ichthyosiform erythroderma
  • Erythrogenesis imperfecta - See Diamond-Blackfan anemia
  • Erythrohepatic protoporphyria - See Autosomal 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''
  • Erythrokeratoderma variabilis progressiva - See Erythrokeratodermia variabilis et progressiva
  • 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 uroporphyria associated with myeloid malignancy
  • ES - See Benign eccrine spiradenoma
  • Escher-Hirt syndrome - See Thickened earlobes-conductive deafness syndrome
  • Escobar syndrome - See Multiple pterygium syndrome Escobar type
  • Escobar variant multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
  • Esophageal achalasia - See Idiopathic achalasia
  • Esophageal atresia
  • Esophageal atresia coloboma talipes
  • Esophageal cancer
  • 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 cryoglobulinemia - See Cryoglobulinemic vasculitis
  • Essential fructosuria - not a rare disease
  • Essential mixed cryoglobulinemia - See Cryoglobulinemic vasculitis
  • Essential thrombocythemia
  • Essential thrombocytosis - See Essential thrombocythemia
  • Essential tremor - not a rare disease
  • EST - See Mediastinal endodermal sinus tumors
  • Esthesioneuroblastoma - See Olfactory neuroblastoma
  • ETANTR - See Embryonal tumor with multilayered rosettes
  • Ethylmalonic encephalopathy
  • Ethylmalonic-adipicaciduria - See Glutaric acidemia type II
  • ETL1 - See Autosomal dominant partial epilepsy with auditory features
  • ETM1 - See Tremor hereditary essential, 1
  • ETM2 - See Tremor hereditary essential, 2
  • ETMR - See Embryonal tumor with multilayered rosettes
  • Eulenburg disease - See Paramyotonia congenita
  • Eunuchoidism familial hypogonadotropic
  • Eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH) - See Fertile eunuch syndrome
  • EUOS - See Urethral obstruction sequence
  • Evan syndrome - See Evans syndrome
  • Evans syndrome
  • EVMPS - See Multiple pterygium syndrome Escobar type
  • Ewing sarcoma
  • Ewing tumor - See Ewing sarcoma
  • 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, 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
  • 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
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