neuronopathy, distal hereditary motor, type IIB

Preferred Label : neuronopathy, distal hereditary motor, type IIB;

MeSH note : mutation in HSPB1;

CISMeF synonym : neuropathie motrice distale héréditaire, type 2B;

MeSH synonym : HMN2B; neuropathy, distal hereditary motor, type IIB; HMN IIB;

Details

Origin ID

C567084;

UMLS CUI

C2608087;

Currated CISMeF NLP mapping
- Neuronopathy, distal hereditary motor, autosomal dominant 3 [OMIM Phenotype]
- distal hereditary motor neuropathy type 2B [DO Concept]
MeSH term(s) associated for indexing
- muscular atrophy, spinal [MeSH Descriptor]
Record concept(s)
- neuronopathy, distal hereditary motor, type IIB [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuronopathy, distal hereditary motor, autosomal dominant 3 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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