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
Term information
- UMLS:C4277690 (MONDO:equivalentTo)
- Orphanet:363250 (MONDO:equivalentTo)
- GARD:21544 (MONDO:GARD)
- DOID:0060340 (MONDO:equivalentTo)
- EFO:0003900 (MONDO:equivalentTo)
- MEDGEN:908923 (MONDO:equivalentTo)
- GTR:AN0966173
gard_rare, otar, disease_grouping, rare, clingen, ordo_group_of_disorders
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