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Download Data for familial isolated deficiency of vitamin E
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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.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0090028
GARD:0008595
MESH:C535393
OMIM:277460
Orphanet:96
SCTID:702442008
MONDO:0010188
High level summary of knowledge for a disease, including descriptions and datasource references.
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Opens the Target List with this set of targets
Download Data for glycogen storage disease due to muscle beta-enolase deficiency
GARD:0002125
MESH:C567861
OMIM:612932
Orphanet:99849
UMLS:C2752027
MONDO:0013046