| Metadata | |
|---|---|
| ID | DOID:0111043 |
| Name | glycogen storage disease 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. https://www.ncbi.nlm.nih.gov/pubmed/6962066, https://www.ncbi.nlm.nih.gov/pubmed/9384616 |
| Xrefs | |
| Synonyms |
glycogen storage disease type 9C [EXACT] glycogen storage disease type IXc [EXACT] glycogenosis type 9C [EXACT] glycogenosis type IXc [EXACT] GSD type 9C [EXACT] GSD type IXc [EXACT] GSD9C [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some left upper quadrant abdominal rigidity has material basis in some autosomal recessive inheritance has symptom some hepatomegaly |