Ciliary dyskinesia, primary, 6

Preferred Label : Ciliary dyskinesia, primary, 6;

Symbol : CILD6;

CISMeF acronym : CILD6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thioredoxin domain-containing 3 gene (TXNDC3, 607421.0001);

Prefixed ID : #610852;

Détails

Origin ID

610852;

UMLS CUI

C1970506;

Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- ciliary dyskinesia, primary, 6 [MeSH concept]
- ciliary dyskinesia, primary, 6 [MeSH Supplementary Concept]
- primary ciliary dyskinesia 6 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 6 [DO Concept]
Genes related to phenotype
- Nme/nm23 family, member 8 [OMIM gene]
HPO term(s)
- Abnormal ciliary motility [HPO term]
- Abnormal respiratory motile cilium morphology [HPO term]
- Absent/shortened outer dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Ciliary dyskinesia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Sinusitis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- NME/NM23 family member 8 [ORDO Gene]
- NME/NM23 family member 8 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ciliary dyskinesia, primary, 6 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 6 [MeSH concept]
- primary ciliary dyskinesia 6 [DO Concept]
Validated automatic mappings to NTBT
- Primary ciliary dyskinesia [ORDO Disease]

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

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