Medical Subject Headings

Last uploaded: August 28, 2024

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Preferred Name	Ciliopathies
Synonyms	Ciliopathy
Definitions	Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys.
ID	http://purl.bioontology.org/ontology/MESH/D000072661
altLabel	Ciliopathy
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C4277690
DC	1
definition	Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys.
DX	20170101
FX	D002925
HN	2017
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D002925
Machine permutation	2017
Mapped from	http://purl.bioontology.org/ontology/MESH/C563763 http://purl.bioontology.org/ontology/MESH/C564637 http://purl.bioontology.org/ontology/MESH/C537580 http://purl.bioontology.org/ontology/MESH/C537581 http://purl.bioontology.org/ontology/MESH/C565708
MDA	20160705
MMR	20171214
MN	C16.320.184 C16.131.077.245
notation	D000072661
prefLabel	Ciliopathies
TERMUI	T000900919
TH	NLM (2017)
tui	T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D030342

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/NDFRT/N0000192939	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000072661	MSHFRE	CUI
http://id.nlm.nih.gov/mesh/D000072661	MDM	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036587	PMAPP-PMO	LOOM