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

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

Symbol : CMT2W;

CISMeF acronym : CMT2W;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the histidyl-tRNA synthetase 1 gene (HARS1, 142810.0002);

Prefixed ID : #616625;

Details

Origin ID

616625;

UMLS CUI

C5567486;

Automatic exact mappings (from CISMeF team)
- HARS1 wt Allele [NCIt concept]
CISMeF manual mappings
- Autosomal dominant Charcot-Marie-Tooth disease type 2W [ORDO Disease]
- Charcot-Marie-Tooth disease, axonal type 2W [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease, axonal type 2W [DO Concept]
Genes related to phenotype
- Histidyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Gait disturbance [HPO term]
- Hammertoe [HPO term]
- Hyperactive patellar reflex [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Steppage gait [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2W [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2W [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease, axonal type 2W [DO Concept]

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