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elliptocytosis 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.
Uniprot Description A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567520
OMIM:611804
UMLS:C2678497
MONDO:0012731
High level summary of knowledge for a disease, including descriptions and datasource references.