Bronchiectasis with or without elevated sweat chloride 2

Preferred Label : Bronchiectasis with or without elevated sweat chloride 2;

Symbol : BESC2;

CISMeF acronym : BESC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystic fibrosis-like syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, nonvoltage-gated 1, alpha gene (SCNN1A, 600228.0006);

Laboratory abnormalities : Elevated sweat chloride (some); Increased nasal-potential difference (some); Normal exocrine pancreatic function;

Prefixed ID : #613021;

Détails

Origin ID

613021;

UMLS CUI

C2751666;

Automatic exact mappings (from CISMeF team)
- Idiopathic bronchiectasis [ORDO Disease]
Currated CISMeF NLP mapping
- bronchiectasis with or without elevated sweat chloride 2 [MeSH concept]
- bronchiectasis with or without elevated sweat chloride 2 [MeSH Supplementary Concept]
DO Cross reference
- bronchiectasis [DO Concept]
- bronchiectasis 2 [DO Concept]
Genes related to phenotype
- Sodium channel, epithelial 1, alpha subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic bronchitis [HPO term]
- Elevated sweat chloride [HPO term]
Not associated HPO term(s)
- Abnormality of exocrine pancreas physiology [HPO term]
ORDO concept(s)
- Idiopathic bronchiectasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- bronchiectasis with or without elevated sweat chloride 2 [MeSH Supplementary Concept]
- bronchiectasis with or without elevated sweat chloride 2 [MeSH concept]

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

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