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elliptocytosis 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
Uniprot Description A Rhesus-unlinked 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.
Mondo Term and Equivalent IDs
MONDO:0007533:  elliptocytosis 2
MESH:C565058: 
UMLS:C1851741: