Jump to:
loading...| Preferred Name |
Pyruvate Kinase Deficiency of Red Cells |
| Synonyms |
PK Deficiency |
| ID |
http://purl.bioontology.org/ontology/MESH/C564858 |
| altLabel |
PK Deficiency Pyruvate Kinase Deficiency of Erythrocyte Pyruvate Kinase Deficiency |
| cui |
C0340968 |
| Has mapping qualifier | |
| HM |
D015323 D000746 D011770/Q000172 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D015323 |
| MDA |
20121105 |
| MeSH Frequency |
110 |
| MMR |
20150927 |
| notation |
C564858 |
| prefLabel |
Pyruvate Kinase Deficiency of Red Cells |
| SC |
3 |
| Scope Statement |
An autosomal recessive metabolic disorder caused by mutations in the PKLR gene (pyruvate kinase). It is the most common cause of hereditary nonspherocytic hemolytic anemia and is also the most frequent enzyme abnormality of GLYCOLYSIS. OMIM: 266200 |
| TERMUI |
T842371 T825623 T825621 T825622 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |
Create New Mapping