ciliopathy
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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
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