Primary Ciliary Dyskinesia 29

Preferred Label : Primary Ciliary Dyskinesia 29;

NCIt synonyms : CILD29;

NCIt definition : An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCNO gene, encoding cyclin-O.;

Details

Origin ID

C172393;

UMLS CUI

C4014534;

Currated CISMeF NLP mapping
- Ciliary dyskinesia, primary, 29 [OMIM Phenotype]
- primary ciliary dyskinesia 29 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 29 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CCNO Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients