Ciliary dyskinesia, primary, 46

Preferred Label : Ciliary dyskinesia, primary, 46;

Symbol : CILD46;

Type : Phenotype, molecular basis known;

Prefixed ID : #619436;

Details

Origin ID

619436;

UMLS CUI

C5543646;

Genes related to phenotype
- Serine/threonine protein kinase 36 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Ciliary dyskinesia [HPO term]
- Hearing impairment [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Reduced forced expiratory volume in one second [HPO term]
- Reduced forced vital capacity [HPO term]
- Reduced sperm motility [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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