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glycogen storage disease IXb
Summary
- Synonym
-
- 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
- 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.
- Super Class
- glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111041
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
