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pyropoikilocytosis, hereditary

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.
Uniprot Description Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
Mondo Term and Equivalent IDs
MONDO:0009948:  pyropoikilocytosis, hereditary
GARD:0004619: 
MESH:C563004: 
NCIT:C98943: 
SCTID:9434008: