loading...| Preferred Name |
Hamartoma Syndrome, Multiple [Disease/Finding] |
|
| Synonyms |
Cowden's Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001406 |
|
| altLabel |
Cowden's Disease Hamartoma Syndrome, Multiple Cowden's Syndrome Cowden Syndrome Multiple Hamartoma Syndrome Cowden Disease |
|
| cui |
C0018553 |
|
| MESH DEFINITION |
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. |
|
| MESH DUI |
D006223 |
|
| MeSH name |
Hamartoma Syndrome, Multiple |
|
| MESH UI |
M0009775 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001406 |
|
| NUI |
N0000001406 |
|
| prefLabel |
Hamartoma Syndrome, Multiple [Disease/Finding] |
|
| SNOMED CID |
58037000 |
|
| tui |
T191 |
|
| subClassOf |