| Metadata | |
|---|---|
| ID | DOID:0111077 |
| Name | congenital nonspherocytic hemolytic anemia 2 |
| Definition | A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/7706479, https://www.ncbi.nlm.nih.gov/pubmed/728372, https://www.ncbi.nlm.nih.gov/pubmed/1896471 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hemolytic anemia due to red cell pyruvate kinase deficiency [EXACT] PK deficiency [EXACT] pyruvate kinase deficiency of erythrocyte [EXACT] pyruvate kinase deficiency of red cells [EXACT] Red cell pyruvate kinase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |