neuropathy, distal hereditary motor, type IIA

Preferred Label : neuropathy, distal hereditary motor, type IIA;

MeSH note : mutation in HSPB8;

MeSH synonym : neuronopathy, distal hereditary motor, type IIA; HMN IIA; Charcot-Marie-Tooth disease, spinal, IIA; spinal muscular atrophy, distal adult autosomal dominant, IIA; HMN2A;

Détails

Origin ID

C563561;

UMLS CUI

C1834692;

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

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

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