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DOID:0111041 - glycogen storage disease IXb
Disease Ontology 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.
Synonyms: GSD IXb, GSD due to liver and muscle phosphorylase kinase deficiency, GSD type 9B, GSD type IXb, GSD9B, glycogen storage disease type 9B, glycogen storage disease type IXb, glycogenosis due to liver and muscle phosphorylase kinase deficiency, glycogenosis type 9B, glycogenosis type IXb,
Xenbase Genes
:
phkb
| MONDO:0009868 - glycogen storage disease IXb |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee