Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024

Id	http://purl.obolibrary.org/obo/MONDO_0005308 http://purl.obolibrary.org/obo/MONDO_0005308
Preferred Name	ciliopathy
Definitions	A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Synonyms	ciliopathies
Type	http://www.w3.org/2002/07/owl#Class

label	ciliopathy
prefLabel	ciliopathy
exactMatch	http://purl.obolibrary.org/obo/DOID_0060340 http://www.orpha.net/ORDO/Orphanet_363250 http://linkedlifedata.com/resource/umls/id/CN580792
database_cross_reference	DOID:0060340 Orphanet:363250 EFO:0003900 UMLS:CN580792 GTR:AN0966173
notation	MONDO:0005308
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders
has related synonym	ciliopathies
id	MONDO:0005308
disease has basis in dysfunction of	http://purl.obolibrary.org/obo/GO_0005929
textual definition	A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000001 http://purl.obolibrary.org/obo/MONDO_0021197 http://purl.obolibrary.org/obo/MONDO_0003847
imported from	http://purl.obolibrary.org/obo/mondo.owl
type	http://www.w3.org/2002/07/owl#Class
conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

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