loading...| Preferred Name |
Cowden syndrome |
|
| Synonyms |
Cowden's Disease |
|
| Definitions |
An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3076" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3076" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000601787 |
|
| altLabel |
Cowden's Disease PTEN hamartoma syndrome Multiple Hamartoma Syndrome |
|
| Associated disease |
http://purl.bioontology.org/ontology/PDQ/CDR0000038737 http://purl.bioontology.org/ontology/PDQ/CDR0000729962 |
|
| cui |
C0018553 |
|
| DATE FIRST PUBLISHED |
2008-07-23 |
|
| Date last modified |
2017-03-30 |
|
| definition |
An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3076" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3076" NCI Thesaurus) |
|
| NCI ID |
C3076 |
|
| notation |
CDR0000601787 |
|
| ORIG STY |
Neoplasm diagnosis Genetic condition |
|
| prefLabel |
Cowden syndrome |
|
| tui |
T191 |
|
| subClassOf |