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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000001361
http://purl.bioontology.org/ontology/NDFRT/N0000001361
|
|---|---|
| Preferred Name | Glycogen Storage Disease [Disease/Finding] |
| Synonyms |
Glycogenosis
Glycogen Storage Disease
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Glycogenosis
Glycogen Storage Disease
|
|---|---|
| prefLabel | Glycogen Storage Disease [Disease/Finding]
|
| MESH DEFINITION | 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.
|
| MESH DUI | D006008
|
| MESH UI | M0009469
|
| MeSH name | Glycogen Storage Disease
|
| type | |
| tui | T047
|
| SNOMED CID | 29633007
|
| notation | N0000001361
|
| Semantic type UMLS property | |
| NUI | N0000001361
|
| cui | C0017919
|
| NDFRT kind | DISEASE_KIND
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |