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Ontology Browser

Parent Terms Term With Siblings Child Terms
glycogen storage disease +   
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.

Exact Synonyms: glycogen storage diseases ;   glycogenoses ;   glycogenosis
Primary IDs: MESH:D006008
Alternate IDs: RDO:0004069
Xrefs: ICD10CM:E74.0 ;   ICD9CM:271.0 ;   NCI:C61272 ;   OMIM:PS615895
Definition Sources: "DO", "DO", "DO", MESH:D006008

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.