Ciliary dyskinesia, primary, 7

Preferred Label : Ciliary dyskinesia, primary, 7;

Symbol : CILD7;

CISMeF acronym : CILD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 7, with or without situs inversus;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dynein axonemal heavy chain 11 gene (DNAH11, 603339.0001);

Laboratory abnormalities : Cilia show nonflexible and hyperkinetic beating of axonemes; Cilia may also be static, with slow activity; Axonemes show normal structure;

Prefixed ID : #611884;

Détails

Origin ID

611884;

UMLS CUI

C2678473;

Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- ciliary dyskinesia, primary, 7 [MeSH concept]
- ciliary dyskinesia, primary, 7 [MeSH Supplementary Concept]
- primary ciliary dyskinesia 7 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 7 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, heavy chain 11 [OMIM gene]
HPO term(s)
- Abnormal ciliary motility [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic rhinitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Cough [HPO term]
- Decreased nasal nitric oxide [HPO term]
- Dextrocardia [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced FEV1/FVC ratio [HPO term]
- Restrictive ventilatory defect [HPO term]
- Situs inversus totalis [HPO term]
Not associated HPO term(s)
- Abnormal axonemal organization of respiratory motile cilia [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- dynein axonemal heavy chain 11 [ORDO Gene]
- dynein axonemal heavy chain 11 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ciliary dyskinesia, primary, 7 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 7 [MeSH concept]
- primary ciliary dyskinesia 7 [DO Concept]

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

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