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General Information
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| Term |
glycogen storage disease IXc |
ID (Ontology) |
DOID:0111043 (Human Disease) |
| 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. |
| Also Known As |
"glycogen storage disease type 9C" ; "glycogen storage disease type IXc" ; "glycogenosis type 9C" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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glycogen storage disease IXc | 1 | for disease ribbon | glycogen storage disease IXc | 1 | model of | glycogen storage disease IXc | 1 |
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Relationships