Disease #02045 (pyr.kin. deficiency (pyruvate kinase deficiency), OMIM:266200)
| Official abbreviation |
pyr.kin. deficiency |
| Name |
pyruvate kinase deficiency |
| OMIM ID |
266200 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
Autosomal recessive |
| Individuals reported having this disease |
770 |
| Phenotype entries for this disease |
327 |
| Associated with 1 gene |
PKLR |
| Associated tissues |
- |
| Disease features |
- |
| Remarks |
- |
| Date created |
2014-09-25 23:29:40 +02:00 (CEST) |
| Date last edited |
2022-02-17 09:10:02 +01:00 (CET) |
Individuals
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