Preferred Name |
Cowden syndrome |
|
Synonyms |
Cowden disease multiple hamartoma syndrome |
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_6457 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
OMIM:PS158350 UMLS_CUI:C0391826 UMLS_CUI:C0018553 SNOMEDCT_US_2023_03_01:58037000 SNOMEDCT_US_2023_03_01:67944007 MESH:D006223 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 |