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epilepsy-telangiectasia syndrome
Disease Summary
Associated Targets ()
Mondo Description Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0002168
MESH:C535497
OMIM:226850
Orphanet:1951
UMLS:C1856929
MONDO:0009188
High level summary of knowledge for a disease, including descriptions and datasource references.