Terminology Service for NFDI4Health

ciliopathy

Go to external page http://www.ebi.ac.uk/efo/EFO_0003900


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

Label

ciliopathy

Synonyms
  • CILIARY MOTILITY DIS
  • Cilia Syndrome, Immotile
  • Cilia Syndromes, Immotile
  • Ciliary Dyskinesia
  • Ciliary Dyskinesias
  • Ciliary Motility Disorder
  • Ciliary Motility Disorders
  • Disorder, Ciliary Motility
  • Disorders, Ciliary Motility
  • Dyskinesia, Ciliary
  • Dyskinesias, Ciliary
  • Immotile Cilia Syndrome
  • Immotile Cilia Syndromes
  • Syndrome, Immotile Cilia
  • Syndromes, Immotile Cilia
  • ciliopathy
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

exactMatch

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

has related synonym

ciliopathies

id

EFO:0003900

term editor

Tomasz Adamusiak

Term relations