Slowed nerve conduction velocity, autosomal dominant

Preferred Label : Slowed nerve conduction velocity, autosomal dominant;

Symbol : SNCV;

CISMeF acronym : SNCV;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Rho guanine-nucleotide exchange factor-10 gene (ARHGEF10, 608136.0001);

Prefixed ID : #608236;

Details

Origin ID

608236;

UMLS CUI

C1842357;

Automatic exact mappings (from CISMeF team)
- ARHGEF10 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant slowed nerve conduction velocity [ORDO Disease]
- Autosomal dominant slowed nerve conduction velocity (disorder) [SNOMED CT concept]
- slowed nerve conduction velocity, autosomal dominant [MeSH concept]
- slowed nerve conduction velocity, autosomal dominant [MeSH Supplementary Concept]
Genes related to phenotype
- Rho guanine nucleotide exchange factor 10 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Demyelination [HPO term]
- Onion bulb formation [HPO term]
- Peripheral demyelination [HPO term]
ORDO concept(s)
- Autosomal dominant slowed nerve conduction velocity [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant slowed nerve conduction velocity [ORDO Disease]
- Autosomal dominant slowed nerve conduction velocity (disorder) [SNOMED CT concept]
- slowed nerve conduction velocity, autosomal dominant [MeSH Supplementary Concept]
- slowed nerve conduction velocity, autosomal dominant [MeSH concept]

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