BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Cowden syndrome

Synonyms

Cowden disease

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome 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_2020_03_01:58037000

MESH:D006223

SNOMEDCT_US_2020_03_01:67944007

GARD:6202

NCI:C3076

NCI:C8419

ORDO:201

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

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

Cowden syndrome

notation

DOID:6457

prefLabel

Cowden syndrome

textual definition

A syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225

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The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: tissue-based format

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A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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