Ciliary dyskinesia, primary, 12

Preferred Label : Ciliary dyskinesia, primary, 12;

Symbol : CILD12;

CISMeF acronym : CILD12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 12, without situs inversus;

Prefixed ID : #612650;

Details

Origin ID

612650;

UMLS CUI

C2675228;

Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- ciliary dyskinesia, primary, 12 [MeSH concept]
- ciliary dyskinesia, primary, 12 [MeSH Supplementary Concept]
- primary ciliary dyskinesia 12 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 12 [DO Concept]
Genes related to phenotype
- Radial spoke head component 9 [OMIM gene]
HPO term(s)
- Abnormal central microtubular pair morphology of respiratory motile cilia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic rhinitis [HPO term]
- Chronic sinusitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Exercise intolerance [HPO term]
- Immotile sperm [HPO term]
- Recurrent respiratory infections [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- radial spoke head component 9 [ORDO Gene]
- radial spoke head component 9 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ciliary dyskinesia, primary, 12 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 12 [MeSH concept]
- primary ciliary dyskinesia 12 [DO Concept]

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