| Metadata | |
|---|---|
| ID | DOID:0050594 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050594 Copy |
| Name | glycogen storage disease IX |
| Definition | A glycogen storage disease characterized by deficiency of phosphorylase kinase (PhK) activity. https://pubmed.ncbi.nlm.nih.gov/25266922/, https://www.ncbi.nlm.nih.gov/pubmed/17689125 |
| Xrefs |
SNOMEDCT_US_2025_09_01:41527003 SNOMEDCT_US_2026_03_01:235908005 |
| SKOS |
exactMatch MESH:C580130 exactMatch ORDO:370 exactMatch NCI:C122662 exactMatch UMLS_CUI:C0268147 |
| Alternateids |
DOID:2751 |
| Synonyms |
glycogen storage disease 8 [EXACT] glycogen storage disease 9 [EXACT] glycogen storage disease type VIII [EXACT] glycogen storage disease VIII [EXACT] glycogenosis type IX [EXACT] glycogenosis type VIII [EXACT] GSD IX [EXACT] GSD VIII [EXACT] GSD8 [EXACT] GSD9 [EXACT] |
| Parent Relationships |