Ciliary dyskinesia, primary, 13

Preferred Label : Ciliary dyskinesia, primary, 13;

Symbol : CILD13;

CISMeF acronym : CILD13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 13, with or without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine-rich repeat-containing protein 50 gene (LRRC50, 613190.0001);

Prefixed ID : #613193;

Details

Origin ID

613193;

UMLS CUI

C2750790;

Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- ciliary dyskinesia, primary, 13 [MeSH concept]
- ciliary dyskinesia, primary, 13 [MeSH Supplementary Concept]
- primary ciliary dyskinesia 13 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 13 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, assembly factor 1 [OMIM gene]
HPO term(s)
- Absent inner dynein arms [HPO term]
- Absent outer dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Ciliary dyskinesia [HPO term]
- Immotile cilia [HPO term]
- Infertility [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [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 1 [ORDO Gene]
- dynein axonemal assembly factor 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ciliary dyskinesia, primary, 13 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 13 [MeSH concept]
- primary ciliary dyskinesia 13 [DO Concept]

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