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glycogen storage disease IXc
Summary
- Synonym
-
- GSD type 9C
- GSD type IXc
- GSD9C
- glycogen storage disease type 9C
- glycogen storage disease type IXc
- glycogenosis type 9C
- glycogenosis type IXc
- Definition
- A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.
- Super Class
- autosomal recessive disease glycogen storage disease IX
External Links
- Disease Ontology
- DOID:0111043
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
