Primary Ciliary Dyskinesia 3

Preferred Label : Primary Ciliary Dyskinesia 3;

NCIt synonyms : CILD3;

NCIt definition : An inherited ciliary motility defect caused by mutation(s) in the DNAH5 gene, encoding dynein heavy chain 5, axonemal.;

Details

Origin ID

C172392;

UMLS CUI

C1837618;

Automatic exact mappings (from CISMeF team)
- dynein axonemal heavy chain 5 [ORDO Gene]
Currated CISMeF NLP mapping
- Ciliary dyskinesia, primary, 3 [OMIM Phenotype]
- Primary ciliary dyskinesia, 3 [MeSH concept]
- primary ciliary dyskinesia 3 [DO Concept]
- primary ciliary dyskinesia, 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 3 [OMIM Phenotype]
- Primary ciliary dyskinesia, 3 [MeSH concept]
- primary ciliary dyskinesia, 3 [MeSH Supplementary 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
- DNAH5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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