Ciliary dyskinesia, primary, 29

Preferred Label : Ciliary dyskinesia, primary, 29;

Symbol : CILD29;

CISMeF acronym : CILD29;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 29, without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cyclin O gene (CCNO, 607752.0001);

Laboratory abnormalities : Decreased nasal nitric oxide;

Prefixed ID : #615872;

Details

Origin ID

615872;

UMLS CUI

C4014534;

CISMeF manual mappings
- primary ciliary dyskinesia 29 [DO Concept]
Currated CISMeF NLP mapping
- Primary Ciliary Dyskinesia 29 [NCIt concept]
DO Cross reference
- primary ciliary dyskinesia 29 [DO Concept]
Genes related to phenotype
- Cyclin o [OMIM gene]
HPO term(s)
- Atelectasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Ciliary dyskinesia [HPO term]
- Decreased nasal nitric oxide [HPO term]
- Infertility [HPO term]
- Progressive [HPO term]
- Recurrent respiratory infections [HPO term]
Not associated HPO term(s)
- 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 29 [NCIt concept]
- primary ciliary dyskinesia 29 [DO Concept]

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