PMO Precision Medicine Ontology

Last uploaded: December 16, 2020

Preferred Name	Ciliopathies
Synonyms
Definitions	A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
ID	http://www.phoc.org.cn/pmo/class/PMO_00036587
Database_Cross_Reference	DO:DOID:0060340 MSH:D000072661 NDFRT:N0000192939
Definition	A genetic disease associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
label	Ciliopathies
MCID	MC01054880
PMOID	PMO:00036587
prefixIRI	pmo:PMO_00036587
prefLabel	Ciliopathies
Synonym	Ciliopathy ciliopathy Ciliopathies [Disease/Finding]
Tree Number	T9.8.3.1.4 T9.8.4.4
subClassOf	http://www.phoc.org.cn/pmo/class/PMO_00036558 http://www.phoc.org.cn/pmo/class/PMO_00040090

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Delete	Mapping To	Ontology	Source
	http://id.nlm.nih.gov/mesh/D000072661	MDM	LOOM
	http://purl.bioontology.org/ontology/MESH/D000072661	MESH	LOOM