Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023

Preferred Name	cardiofaciocutaneous syndrome 1
Synonyms	cardiofaciocutaneous syndrome type 1 BRAF cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome caused by mutation in BRAF Cfcs cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome CFC1 CFC syndrome
Definitions	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.
ID	http://purl.obolibrary.org/obo/MONDO_0007265
database_cross_reference	OMIM:115150 UMLS:CN029449 DOID:0111460
definition	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.
exactMatch	http://linkedlifedata.com/resource/umls/id/CN029449 http://purl.obolibrary.org/obo/DOID_0111460 https://omim.org/entry/115150
has_broad_synonym	cardiofaciocutaneous syndrome
has_exact_synonym	cardiofaciocutaneous syndrome type 1 BRAF cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome caused by mutation in BRAF cardiofaciocutaneous syndrome 1
has_related_synonym	Cfcs CFC1 CFC syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
id	MONDO:0007265
label	cardiofaciocutaneous syndrome 1
notation	MONDO:0007265
prefLabel	cardiofaciocutaneous syndrome 1
treeView	http://purl.obolibrary.org/obo/MONDO_0015280
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015280

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/115150	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
	http://purl.obolibrary.org/obo/DOID_0111460	Human Disease Ontology / 人类疾病本体	LOOM