Ciliary dyskinesia, primary, 42

Preferred Label : Ciliary dyskinesia, primary, 42;

Symbol : CILD42;

CISMeF acronym : CILD42;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 42, without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the multiciliate differentiation and DNA synthesis-associated cell cycle protein gene (MCIDAS, 614086.0001);

Laboratory abnormalities : Patient respiratory epithelial cells have reduced or absent motile cilia and basal bodies; Decreased nasal nitric oxide; Defective mucociliary clearance;

Prefixed ID : #618695;

Détails

Origin ID

618695;

UMLS CUI

C5231464;

Currated CISMeF NLP mapping
- primary ciliary dyskinesia 42 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 42 [DO Concept]
Genes related to phenotype
- Multiciliate differentiation and dna synthesis-associated cell cycle protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic pulmonary obstruction [HPO term]
- Chronic rhinitis [HPO term]
- Decreased nasal nitric oxide [HPO term]
- Nasal polyposis [HPO term]
- Neonatal onset [HPO term]
- Pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Reduced forced vital capacity [HPO term]
- Respiratory insufficiency [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 42 [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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