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

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

Symbol : CMT2U;

CISMeF acronym : CMT2U;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the methionyl-tRNA synthetase gene (MARS, 156560.0005);

Prefixed ID : #616280;

Details

Origin ID

616280;

UMLS CUI

C4084821;

Automatic exact mappings (from CISMeF team)
- methionyl-tRNA synthetase 1 [ORDO Gene]
- methionyl-tRNA synthetase 1 [HGNC gene]
CISMeF manual mappings
- Autosomal dominant Charcot-Marie-Tooth disease type 2U [ORDO Disease]
- Charcot-Marie-Tooth disease axonal type 2U [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2U [DO Concept]
Genes related to phenotype
- Methionyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Peripheral neuropathy [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2U [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2U [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2U [DO Concept]

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