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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ciliopathy
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Accession:EFO:0003900 term browser browse the term
Definition:A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Synonyms:exact_synonym: CILIARY MOTILITY DIS;   Ciliary Dyskinesia;   Ciliary Dyskinesias;   Ciliary Motility Disorder;   Ciliary Motility Disorders;   DOID:0060340;   Immotile Cilia Syndrome;   Immotile Cilia Syndromes;   Orphanet:363250;   http://identifiers.org/medgen/908923;   http://linkedlifedata.com/resource/umls/id/C4277690
 related_synonym: ciliopathies
 xref: DOID:0060340;   GARD:21544;   GTR:AN0966173;   MEDGEN:908923;   MESH:D002925;   MIM:244400;   MONDO:0005308;   ORDO:363250;   SNOMEDCT:86204009;   UMLS:C4277690
 external_ontology: disease_has_basis_in_dysfunction_of EFO:GO:0005929;   has_disease_location EFO:GO:0005929


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            ciliopathy 0
              Alstrom syndrome 0
              Bardet-Biedl syndrome + 0
              CEP290-related ciliopathy + 0
              IFT140-related recessive ciliopathy + 0
              Jeune syndrome + 0
              Joubert syndrome + 0
              KIF7-related ciliopathy + 0
              MKKS-related ciliopathy + 0
              Marden-Walker syndrome 0
              Meckel syndrome + 0
              Primary ciliary dyskinesia - retinitis pigmentosa 0
              Senior-Loken syndrome + 0
              nephronophthisis 1 0
              oculocerebrodental syndrome 0
              orofaciodigital syndrome I 0
              primary ciliary dyskinesia + 0
              retinal ciliopathy + 0
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