Ciliary dyskinesia, primary, 9

Preferred Label : Ciliary dyskinesia, primary, 9;

Symbol : CILD9;

CISMeF acronym : CILD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 9, with or without situs inversus;

Description : Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced;

Prefixed ID : #612444;

Détails

Origin ID

612444;

UMLS CUI

C2676235;

Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- ciliary dyskinesia, primary, 9 [MeSH concept]
- ciliary dyskinesia, primary, 9 [MeSH Supplementary Concept]
- primary ciliary dyskinesia 9 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 9 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, intermediate chain 2 [OMIM gene]
HPO term(s)
- Absent outer dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic otitis media [HPO term]
- Chronic rhinitis [HPO term]
- Chronic sinusitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Cough [HPO term]
- Decreased nasal nitric oxide [HPO term]
- Male infertility [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Pneumonia [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 intermediate chain 2 [ORDO Gene]
- dynein axonemal intermediate chain 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ciliary dyskinesia, primary, 9 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 9 [MeSH concept]
- primary ciliary dyskinesia 9 [DO Concept]

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

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