loading...| Preferred Name |
Glycogen Storage Disease |
|
| Synonyms |
|
|
| Definitions |
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C61272 |
|
| ALT_DEFINITION |
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. |
|
| code |
C61272 |
|
| Contributing_Source |
ACC/AHA GDC NICHD |
|
| definition |
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C167409 |
|
| Is_Value_For_GDC_Property | ||
| label |
Glycogen Storage Disease |
|
| Legacy Concept Name |
Glycogen_Storage_Disease |
|
| Maps_To |
Glycogen Storage Disease |
|
| Preferred_Name |
Glycogen Storage Disease |
|
| prefixIRI |
NCIT:C61272 |
|
| prefLabel |
Glycogen Storage Disease |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0017919 |
|
| subClassOf |