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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/9215682 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/25266922 ]
Synonyms: GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B glycogen storage disease type 9B GSD IXb glycogen storage disease type IXb GSD type IXb glycogenosis type IXb glycogenosis type 9B GSD9B glycogenosis due to liver and muscle phosphorylase kinase deficiency
Term information
Term relations
- glycogen storage disease IX
- disease has basis in some structural_variant
- has symptom some left upper quadrant abdominal rigidity
- has symptom some hepatomegaly
- has symptom some short stature