Ciliary dyskinesia, primary, 40

Preferred Label : Ciliary dyskinesia, primary, 40;

Symbol : CILD40;

CISMeF acronym : CILD40;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 40, with or without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dynein, axonemal, heavy chain 9 gene (DNAH9, 603330.0001);

Laboratory abnormalities : Decreased bending of distal ciliary axoneme; Abnormal ciliary beat pattern, subtle;

Prefixed ID : #618300;

Details

Origin ID

618300;

UMLS CUI

C4749028;

Currated CISMeF NLP mapping
- primary ciliary dyskinesia 40 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 40 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, heavy chain 9 [OMIM gene]
HPO term(s)
- Absent outer dynein arms [HPO term]
- Atrioventricular canal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Childhood onset [HPO term]
- Chronic rhinitis [HPO term]
- Chronic sinusitis [HPO term]
- Congenital onset [HPO term]
- Congenitally corrected transposition of the great arteries [HPO term]
- Cough [HPO term]
- Decreased nasal nitric oxide [HPO term]
- Infertility [HPO term]
- Interrupted inferior vena cava with azygous continuation [HPO term]
- Juvenile onset [HPO term]
- Left Isomerism [HPO term]
- Patent ductus arteriosus [HPO term]
- Reduced forced expiratory volume in one second [HPO term]
- Reduced respiratory ciliary beating frequency [HPO term]
- Situs inversus totalis [HPO term]
- Unbalanced atrioventricular canal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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