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
  • EFO:0003900 (MONDO:equivalentTo)
  • Orphanet:363250 (MONDO:equivalentTo)
  • GTR:AN0966173
  • UMLS:C4277690 (MONDO:equivalentTo)
  • GARD:21544 (Orphanet:363250)
  • DOID:0060340 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, clingen, ordo_group_of_disorders

exactMatch

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

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

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

has related synonym

ciliopathies

id

MONDO:0005308

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0005308

Term relations

Subclass of: