Jump to:
loading...| Preferred Name |
pyruvate kinase deficiency of red cells |
| Synonyms |
pyruvate kinase deficiency of erythrocyte |
| Definitions |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111077 |
| database_cross_reference |
GARD:7514 MESH:C564858 ORDO:766 OMIM:266200 |
| definition |
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. |
| has exact synonym |
pyruvate kinase deficiency of erythrocyte hemolytic anemia due to red cell pyruvate kinase deficiency PK deficiency |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111077 |
| in_subset | |
| label |
pyruvate kinase deficiency of red cells |
| notation |
DOID:0111077 |
| prefLabel |
pyruvate kinase deficiency of red cells |
| subClassOf |
Create New Mapping