Ciliary dyskinesia, primary, 2

Preferred Label : Ciliary dyskinesia, primary, 2;

Symbol : CILD2;

CISMeF acronym : CILD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 2, with or without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the axonemal dynein assembly factor 3 gene (DNAAF3, 614566.0001);

Laboratory abnormalities : Immotile cilia;

Prefixed ID : #606763;

Details

Origin ID

606763;

UMLS CUI

C1847554;

Automatic exact mappings (from CISMeF team)
- CILD2 gene [LOINC component]
- symbol withdrawn CILD2 [HGNC gene]
Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- Primary ciliary dyskinesia, 2 [MeSH concept]
- primary ciliary dyskinesia 2 [DO Concept]
- primary ciliary dyskinesia, 2 [MeSH Supplementary Concept]
DO Cross reference
- primary ciliary dyskinesia 2 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, assembly factor 3 [OMIM gene]
HPO term(s)
- Absent inner and outer dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Ciliary dyskinesia [HPO term]
- Congenital onset [HPO term]
- Dextrocardia [HPO term]
- Hearing impairment [HPO term]
- Immotile cilia [HPO term]
- Infertility [HPO term]
- Nasal polyposis [HPO term]
- Otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Respiratory distress [HPO term]
- Sinusitis [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary ciliary dyskinesia, 2 [MeSH concept]
- primary ciliary dyskinesia 2 [DO Concept]
- primary ciliary dyskinesia, 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Primary ciliary dyskinesia [ORDO Disease]

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