JSON

ciliopathy

^ 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 ]

Term info

database cross reference
  • GTR:AN0966173 (UMLS:CN580792)
  • Orphanet:363250 (MONDO:equivalentTo)
  • EFO:0003900 (MONDO:equivalentTo)
  • DOID:0060340 (MONDO:equivalentTo)
  • UMLS:CN580792 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

definition

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

exactMatch

http://linkedlifedata.com/resource/umls/id/CN580792, http://purl.obolibrary.org/obo/Orphanet_363250, http://purl.obolibrary.org/obo/DOID_0060340

has exact synonym

ciliopathy

has related synonym

ciliopathies

id

MONDO:0005308

Term relations

Subclass of: