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ciliopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0005308

A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. [ http://en.wikipedia.org/wiki/Ciliopathy ]

Synonyms: ciliopathy

This is just here as a test because I lose it

Term information

database cross reference
  • GTR:AN0966173
  • Orphanet:363250 (MONDO:equivalentTo)
  • UMLS:C4277690 (MONDO:equivalentTo)
  • GARD:21544 (MONDO:GARD)
  • MEDGEN:908923 (MONDO:equivalentTo)
  • EFO:0003900 (MONDO:equivalentTo)
  • DOID:0060340 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, clingen, ordo_group_of_disorders

ClinGen label
ciliopathy

conformsTo

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C4277690

http://identifiers.org/medgen/908923

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

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

has related synonym

ciliopathies

id

MONDO:0005308