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Disease association ontology term - MONDO:0006506 - congenital nonspherocytic hemolytic anemia

Term summary

ID
MONDO:0006506
Name
congenital nonspherocytic hemolytic anemia
Ontology or CV name
Disease association
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.

Parents

Annotation

Disease association

MONDO:0006506 - congenital nonspherocytic hemolytic anemia

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MONDO:0010480 - anemia, nonspherocytic hemolytic, due to G6PD deficiency

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MONDO:0009259 - gamma-glutamylcysteine synthetase deficiency

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MONDO:0009284 - glutathione synthetase deficiency without 5-oxoprolinuria

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MONDO:0013275 - hemolytic anemia due to glucophosphate isomerase deficiency

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MONDO:0019531 - hemolytic anemia due to glutathione reductase deficiency

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MONDO:0009340 - non-spherocytic hemolytic anemia due to hexokinase deficiency

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MONDO:0009950 - pyruvate kinase deficiency of red cells

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