Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

obsolete_Cowden syndrome

Synonyms

CD

MHAM

multiple hamartoma syndrome

Cowden disease

Cowden's disease

Cowden syndrome

dysplastic gangliocytoma of cerebellum

CS

ID

http://www.orpha.net/ORDO/Orphanet_201

Obsolete

true

closeMatch

http://identifiers.org/snomedct/67944007

database_cross_reference

SCTID:58037000

Orphanet:201

ICD10:Q85.8

UMLS:C0018553

OMIMPS:158350

GARD:0006202

MESH:D006223

MedDRA:10051906

DOID:6457

NCIT:C3076

deprecated

true

exactMatch

http://identifiers.org/snomedct/58037000

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

http://identifiers.org/meddra/10051906

http://www.orpha.net/ORDO/Orphanet_201

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

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

http://identifiers.org/mesh/D006223

has_exact_synonym

multiple hamartoma syndrome

Cowden disease

Cowden's disease

Cowden syndrome

dysplastic gangliocytoma of cerebellum

CS

has_related_synonym

CD

MHAM

in_subset

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

label

obsolete_Cowden syndrome

obsoleted_in_version

3.41.0

preferred label

obsolete_Cowden syndrome

prefLabel

obsolete_Cowden syndrome

reason_for_obsolescence

Replaced with Mondo term.

should_conform_to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term replaced by

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

subClassOf

http://www.w3.org/2002/07/owl#Thing

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