| Metadata | |
|---|---|
| ID | DOID:0111042 |
| Name | glycogen storage disease IXa |
| Definition | A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. https://www.ncbi.nlm.nih.gov/pubmed/7711737, https://www.ncbi.nlm.nih.gov/pubmed/2303074 |
| Xrefs | |
| Synonyms |
glycogen storage disease type 9A [EXACT] glycogen storage disease type IXa [EXACT] glycogenosis type 9A [EXACT] glycogenosis type IXa [EXACT] GSD type 9A [EXACT] GSD type IXa [EXACT] GSD9A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance has symptom some left upper quadrant abdominal rigidity has symptom some hepatomegaly |