Mondo Disease Ontology

Last uploaded: May 9, 2024
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Preferred Name

Cowden disease
Synonyms

multiple hamartoma syndrome

Cowden's disease

Cowden syndrome

Cowden disease

CD

dysplastic gangliocytoma of cerebellum

MHAM
Definitions

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.
ID

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

http://identifiers.org/meddra/10051906
database_cross_reference

OMIMPS:158350

UMLS:C0391826

UMLS:C0018553

NCIT:C8419

MedDRA:10051906

GARD:6202

SCTID:58037000

NCIT:C3076

DOID:6457

Orphanet:201

MESH:D006223
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/Orphanet_201

http://identifiers.org/snomedct/58037000

http://linkedlifedata.com/resource/umls/id/C0018553

http://purl.obolibrary.org/obo/NCIT_C3076

http://purl.obolibrary.org/obo/DOID_6457

http://identifiers.org/mesh/D006223

https://omim.org/phenotypicSeries/PS158350
has_exact_synonym

multiple hamartoma syndrome

Cowden's disease

Cowden syndrome

Cowden disease
has_related_synonym

CD

dysplastic gangliocytoma of cerebellum

MHAM
id

MONDO:0016063
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare
label

Cowden disease
notation

MONDO:0016063
prefLabel

Cowden disease
treeView

http://purl.obolibrary.org/obo/MONDO_0100118

http://purl.obolibrary.org/obo/MONDO_0000426
excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015356

http://purl.obolibrary.org/obo/MONDO_0015185

http://purl.obolibrary.org/obo/MONDO_0017623
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100118

http://purl.obolibrary.org/obo/MONDO_0000426
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