Primary Ciliary Dyskinesia 15

Preferred Label : Primary Ciliary Dyskinesia 15;

NCIt synonyms : CILD15;

NCIt definition : An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCDC40 gene, encoding coiled-coil domain-containing protein 40.;

Details

Origin ID

C155999;

UMLS CUI

C3151137;

Automatic exact mappings (from CISMeF team)
- coiled-coil domain containing 40 [ORDO Gene]
Currated CISMeF NLP mapping
- Ciliary dyskinesia, primary, 15 [OMIM Phenotype]
- primary ciliary dyskinesia 15 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 15 [OMIM Phenotype]
- primary ciliary dyskinesia 15 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CCDC40 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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