Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

ciliopathy

Synonyms

ciliopathies

Definitions

A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

ID

http://purl.obolibrary.org/obo/MONDO_0005308

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

database_cross_reference

DOID:0060340

Orphanet:363250

EFO:0003900

UMLS:CN580792

GTR:AN0966173

disease has basis in dysfunction of

http://purl.obolibrary.org/obo/GO_0005929

exactMatch

http://purl.obolibrary.org/obo/DOID_0060340

http://www.orpha.net/ORDO/Orphanet_363250

http://linkedlifedata.com/resource/umls/id/CN580792

has related synonym

ciliopathies

id

MONDO:0005308

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

ciliopathy

notation

MONDO:0005308

prefLabel

ciliopathy

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

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