Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

familial adenomatous polyposis 1
Synonyms

familial polyposis of the colon

familial adenomatous polyposis, attenuated

brain tumor-polyposis syndrome 2

polyposis, adenomatous intestinal

adenomatous polyposis of the colon

adenomatous polyposis coli, attenuated

Gardner syndrome

adenomatous polyposis coli

adenoma, periampullary, somatic

familial adenomatous polyposis 1

attenuated familial adenomatous polyposis caused by mutation in APC

APC attenuated familial adenomatous polyposis

FAP1

Definitions

Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.

ID

http://purl.obolibrary.org/obo/MONDO_0021056

database_cross_reference

MEDGEN:398651

DOID:0080409

UMLS:C2713442

OMIM:175100

definition

Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2713442

https://omim.org/entry/175100

http://identifiers.org/medgen/398651

http://purl.obolibrary.org/obo/DOID_0080409

has_broad_synonym

adenomatous polyposis coli

has_exact_synonym

adenoma, periampullary, somatic

familial adenomatous polyposis 1

attenuated familial adenomatous polyposis caused by mutation in APC

APC attenuated familial adenomatous polyposis

FAP1

has_related_synonym

familial polyposis of the colon

familial adenomatous polyposis, attenuated

brain tumor-polyposis syndrome 2

polyposis, adenomatous intestinal

adenomatous polyposis of the colon

adenomatous polyposis coli, attenuated

Gardner syndrome

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0021056

in_subset

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

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

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

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

label

familial adenomatous polyposis 1

notation

MONDO:0021056

preferred label

familial adenomatous polyposis 1

prefLabel

familial adenomatous polyposis 1

subClassOf

http://purl.obolibrary.org/obo/MONDO_0021055

http://purl.obolibrary.org/obo/MONDO_0016362

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