| Metadata | |
|---|---|
| ID | DOID:0111041 |
| Name | glycogen storage disease IXb |
| Definition | A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. https://www.ncbi.nlm.nih.gov/pubmed/9215682, https://www.ncbi.nlm.nih.gov/pubmed/25266922 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
glycogen storage disease type 9B [EXACT] glycogen storage disease type IXb [EXACT] glycogenosis due to liver and muscle phosphorylase kinase deficiency [EXACT] glycogenosis type 9B [EXACT] glycogenosis type IXb [EXACT] GSD due to liver and muscle phosphorylase kinase deficiency [EXACT] GSD IXb [EXACT] GSD type 9B [EXACT] GSD type IXb [EXACT] GSD9B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some short stature has symptom some left upper quadrant abdominal rigidity disease has basis in some structural_variant has symptom some hepatomegaly |