loading...| Preferred Name |
Gardner Syndrome |
|
| Synonyms |
Gardner's Syndrome Gardner Syndrome |
|
| Definitions |
A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C6728 |
|
| code |
C6728 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
|
| Contributing_Source |
Cellosaurus PCDC |
|
| DEFINITION |
A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene. |
|
| FULL_SYN |
Gardner's Syndrome Gardner Syndrome |
|
| label |
Gardner Syndrome |
|
| Legacy Concept Name |
Gardner_s_Syndrome |
|
| Preferred_Name |
Gardner Syndrome |
|
| prefixIRI |
Thesaurus:C6728 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0017097 |
|
| subClassOf |