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Metadata
ID DOID:6457
Name Cowden syndrome
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.
http://en.wikipedia.org/wiki/Cowden_syndrome, http://ghr.nlm.nih.gov/condition/cowden-syndrome, http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1
Xrefs

GARD:6202

ICDO:9493/0

MESH:D006223

NCI:C3076

NCI:C8419

OMIM:PS158350

ORDO:201

SNOMEDCT_US_2023_03_01:58037000

SNOMEDCT_US_2023_03_01:67944007

UMLS_CUI:C0018553

UMLS_CUI:C0391826

Alternateids

DOID:3471

Subsets

DO_cancer_slim

DO_rare_slim

NCIthesaurus

Synonyms

Cowden disease [EXACT]

dysplastic Gangliocytoma of Cerebellum [EXACT]

Lhermitte-Duclos disease [EXACT]

multiple hamartoma syndrome [RELATED]

Parent Relationships

is_a PTEN hamartoma tumor syndrome

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