Primary Ciliary Dyskinesia 42

Preferred Label : Primary Ciliary Dyskinesia 42;

NCIt synonyms : CILD42;

NCIt definition : An autosomal recessive primary ciliary motility defect caused by mutation(s) in the MCIDAS gene, encoding multicilin.;

NCI Metathesaurus CUI : CL1402481;

Details

Origin ID

C202610;

UMLS CUI

C5231464;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 42 [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
- MCIDAS Gene [NCIt concept]

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