Ciliary dyskinesia, primary, 3

Preferred Label : Ciliary dyskinesia, primary, 3;

Symbol : CILD3;

CISMeF acronym : CILD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 3, 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 : #608644;

Details

Origin ID

608644;

UMLS CUI

C1837618;

Automatic exact mappings (from CISMeF team)
- dynein axonemal heavy chain 5 [ORDO Gene]
- dynein axonemal heavy chain 5 [HGNC gene]
Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- Primary Ciliary Dyskinesia 3 [NCIt concept]
- Primary ciliary dyskinesia, 3 [MeSH concept]
- primary ciliary dyskinesia 3 [DO Concept]
- primary ciliary dyskinesia, 3 [MeSH Supplementary Concept]
DO Cross reference
- primary ciliary dyskinesia 3 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, heavy chain 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Ciliary dyskinesia [HPO term]
- Decreased nasal nitric oxide [HPO term]
- Infantile onset [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Ciliary Dyskinesia 3 [NCIt concept]
- Primary ciliary dyskinesia, 3 [MeSH concept]
- primary ciliary dyskinesia 3 [DO Concept]
- primary ciliary dyskinesia, 3 [MeSH Supplementary Concept]

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