Primary Ciliary Dyskinesia 14

Preferred Label : Primary Ciliary Dyskinesia 14;

NCIt synonyms : CILD14;

NCIt definition : An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCDC39 gene, encoding coiled-coil domain-containing protein 39.;

Details

Origin ID

C148370;

UMLS CUI

C3151136;

Currated CISMeF NLP mapping
- Ciliary dyskinesia, primary, 14 [OMIM Phenotype]
- primary ciliary dyskinesia 14 [DO Concept]
See also inter- (CISMeF)
- coiled-coil domain containing 39 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 14 [OMIM Phenotype]
- primary ciliary dyskinesia 14 [DO Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CCDC39 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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