JSON

Cowden disease

^ http://purl.obolibrary.org/obo/MONDO_0016063

A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. [ Orphanet:201 ]

Term info

database cross reference
  • GARD:0006202 (MONDO:equivalentTo)
  • UMLS:C0391826 (MONDO:relatedTo)
  • UMLS:C0018553 (Orphanet:201/e)
  • DOID:6457 (MONDO:equivalentTo)
  • SCTID:58037000 (MONDO:equivalentTo)
  • MESH:D006223 (Orphanet:201/e)
  • NCIT:C3076 (MONDO:equivalentTo)
  • MedDRA:10051906 (Orphanet:201/e)
  • Orphanet:201 (MONDO:equivalentTo)
  • NCIT:C8419 (MONDO:relatedTo)
  • OMIMPS:158350 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MHAM [ GARD:0006202 ]

abbreviation
CD [ GARD:0006202 ]

closeMatch

http://identifiers.org/meddra/10051906

definition

A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C3076, http://identifiers.org/snomedct/58037000, http://purl.obolibrary.org/obo/Orphanet_201, http://purl.obolibrary.org/obo/DOID_6457, http://identifiers.org/mesh/D006223, https://omim.org/phenotypicSeries/PS158350, http://linkedlifedata.com/resource/umls/id/C0018553

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015356, http://purl.obolibrary.org/obo/MONDO_0017623, http://purl.obolibrary.org/obo/MONDO_0015185

has exact synonym

Cowden syndrome, Cowden disease, Cowden's disease, multiple hamartoma syndrome

has related synonym

CD, MHAM, dysplastic gangliocytoma of cerebellum

id

MONDO:0016063