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.
E 2/4
- 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
- Elattoproteus syndrome - See Macrocephaly mesodermal hamartoma spectrum
- Elective mutism
- Elejalde syndrome - See Acrocephalopolydactylous dysplasia
- 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
- Encephalopathy, recurrent, of childhood - See Neuhauser Eichner Opitz syndrome
- 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
.png)
No hay comentarios:
Publicar un comentario