Ciliary dyskinesia, primary, 10

Preferred Label : Ciliary dyskinesia, primary, 10;

Symbol : CILD10;

CISMeF acronym : CILD10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 10, with or without situs inversus;

Prefixed ID : #612518;

Details

Origin ID

612518;

UMLS CUI

C2675867;

Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- ciliary dyskinesia, primary, 10 [MeSH concept]
- ciliary dyskinesia, primary, 10 [MeSH Supplementary Concept]
- primary ciliary dyskinesia 10 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 10 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, assembly factor 2 [OMIM gene]
HPO term(s)
- Abnormal respiratory motile cilium morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic otitis media [HPO term]
- Chronic sinusitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Recurrent sinusitis [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- dynein axonemal assembly factor 2 [ORDO Gene]
- dynein axonemal assembly factor 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ciliary dyskinesia, primary, 10 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 10 [MeSH concept]
- primary ciliary dyskinesia 10 [DO Concept]

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