Neuronopathy, distal hereditary motor, type ix

Preferred Label : Neuronopathy, distal hereditary motor, type ix;

Symbol : HMN9;

CISMeF acronym : DHMN9; HMN9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuropathy, distal hereditary motor, type ix; DHMN9;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tryptophanyl-tRNA synthetase 1 gene (WARS1, 191050.0001);

Prefixed ID : #617721;

Details

Origin ID

617721;

UMLS CUI

C4540265;

Currated CISMeF NLP mapping
- distal hereditary motor neuronopathy type 9 [DO Concept]
DO Cross reference
- distal hereditary motor neuronopathy type 9 [DO Concept]
Genes related to phenotype
- Tryptophanyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Difficulty walking [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Motor axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- distal hereditary motor neuronopathy type 9 [DO Concept]

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