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loading...| Preferred Name |
Gardner Syndrome [Disease/Finding] |
|
| Synonyms |
Gardner Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001310 |
|
| altLabel |
Gardner Syndrome Gardner's Syndrome |
|
| cui |
C0017097 |
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| MESH DEFINITION |
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. |
|
| MESH DUI |
D005736 |
|
| MeSH name |
Gardner Syndrome |
|
| MESH UI |
M0008991 |
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| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001310 |
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| NUI |
N0000001310 |
|
| prefLabel |
Gardner Syndrome [Disease/Finding] |
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| SNOMED CID |
60876000 |
|
| tui |
T047 |
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| subClassOf |
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