Neuronopathy, distal hereditary motor, autosomal dominant 13

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 13;

Symbol : HMND13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuropathy, distal hereditary motor, harding type vc; DHMN5C; Spinal muscular atrophy, distal, harding type vc; Dhmn vc; DSMAVC; HMN5C; Neuronopathy, distal hereditary motor, harding type vc;

Prefixed ID : #619112;

Détails

Origin ID

619112;

UMLS CUI

C5436838;

Genes related to phenotype
- Bscl2 gene [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Chaddock reflex [HPO term]
- Decreased compound muscle action potential amplitude [HPO term]
- Difficulty walking [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Frequent falls [HPO term]
- Juvenile onset [HPO term]
- Pes cavus [HPO term]
- Thenar muscle atrophy [HPO term]
ORDO concept(s)
- Distal hereditary motor neuropathy type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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