loading...| Preferred Name |
Cowden syndrome |
|
| Synonyms |
Cowden disease multiple hamartoma syndrome |
|
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_6457 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
UMLS_CUI:C0391826 UMLS_CUI:C0018553 SNOMEDCT_US_2023_03_01:58037000 SNOMEDCT_US_2023_03_01:67944007 MESH:D006223 MIM:PS158350 ICDO:9493/0 GARD:6202 NCI:C3076 NCI:C8419 ORDO:201 |
|
| definition |
A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. |
|
| has exact synonym |
Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum |
|
| has_alternative_id |
DOID:3471 |
|
| has_obo_namespace |
disease_ontology |
|
| has_related_synonym |
multiple hamartoma syndrome |
|
| id |
DOID:6457 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#DO_cancer_slim |
|
| label |
Cowden syndrome |
|
| notation |
DOID:6457 |
|
| prefLabel |
Cowden syndrome |
|
| subClassOf |