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hereditary spherocytosis type 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
Uniprot Description Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0010053:  hereditary spherocytosis type 3
MESH:C567489: 
UMLS:C2678338: