Charcot-marie-tooth disease, axonal, type 2v

Preferred Label : Charcot-marie-tooth disease, axonal, type 2v;

Symbol : CMT2V;

CISMeF acronym : CMT2V;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2v; Charcot-marie-tooth disease, axonal, autosomal dominant, type 2v;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-N-acetylglucosaminidase gene (NAGLU, 609701.0015);

Prefixed ID : #616491;

Details

Origin ID

616491;

UMLS CUI

C5569050;

CISMeF manual mappings
- Autosomal dominant Charcot-Marie-Tooth disease type 2V [ORDO Disease]
- Charcot-Marie-Tooth disease axonal type 2V [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2V [DO Concept]
Genes related to phenotype
- N-acetylglucosaminidase, alpha- [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Distal sensory impairment [HPO term]
- Hyporeflexia [HPO term]
- Paresthesia [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Sensory ataxia [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2V [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2V [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2V [DO Concept]

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