Glycogen Storage Disease Type Viii
Disease ID: disease_node_3537
Connections displayed (default: 10).
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| Dbxref | MESH:D006015, SNOMEDCT_US_2023_03_01:41527003, UMLS_CUI:C0017927 |
|---|---|
| Subclassof | DOID_0080012, DOID_2747 |
| Data Source | DOID, MESH |
| Synonyms | Glycogen storage disease 8, glycogen storage disease type VIII, glycogenosis type VIII, hepatic glycogen phosphorylase kinase deficiency |
| Mesh Id | D006015 |
| Mesh Label | Glycogen Storage Disease Type VIII |
| Mesh Subclassof | D040181, D006008 |
| Doid Label | glycogen storage disease VIII |
| Doid Description | A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_3537 |
| Doid Id | DOID_2751 |
| Label | Glycogen Storage Disease Type Viii |
- Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease(ID:disease_node_3514) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)