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congenital nonspherocytic hemolytic anemia

^ http://purl.obolibrary.org/obo/MONDO_0006506

Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. [ MESH:D000746 ]

Term info

database cross reference
  • UMLS:C0002882 (MONDO:equivalentTo)
  • EFO:1000641 (MONDO:equivalentTo)
  • MESH:D000746 (MONDO:equivalentTo)
  • SCTID:301317008 (MONDO:equivalentTo)
  • ICD9:282.3 (MONDO:relatedTo)
  • DOID:2861 (MONDO:equivalentTo)
abbreviation
HNSHA [ DOID:2861 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.

exactMatch

http://purl.obolibrary.org/obo/DOID_2861, http://identifiers.org/mesh/D000746, http://identifiers.org/snomedct/301317008, http://linkedlifedata.com/resource/umls/id/C0002882

has exact synonym

hereditary nonspherocytic hemolytic anemia, HNSHA

id

MONDO:0006506