| Metadata | |
|---|---|
| ID | DOID:0111040 |
| Name | glycogen storage disease IXd |
| Definition | A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. https://www.ncbi.nlm.nih.gov/pubmed/7874115, https://www.ncbi.nlm.nih.gov/pubmed/22238410 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
glycogen storage disease due to muscle phosphorylase kinase deficiency [EXACT] glycogen storage disease type 9D [EXACT] glycogen storage disease type 9E [EXACT] glycogen storage disease type IXd [EXACT] glycogen storage disease type IXe [EXACT] glycogenosis due to muscle phosphorylase kinase deficiency [EXACT] glycogenosis type 9D [EXACT] glycogenosis type 9E [EXACT] glycogenosis type IXd [EXACT] glycogenosis type IXe [EXACT] GSD due to muscle phosphorylase kinase deficiency [EXACT] GSD IXd [EXACT] GSD type 9D [EXACT] GSD type 9E [EXACT] GSD type IXd [EXACT] GSD type IXe [EXACT] GSD9D [EXACT] muscle phosphorylase kinase deficiency [EXACT] X-linked muscke glycogenosis [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance has symptom some muscle weakness |