Neuronopathy, distal hereditary motor, autosomal dominant 14

Preferred Label : Neuronopathy, distal hereditary motor, autosomal dominant 14;

Symbol : HMND14;

CISMeF acronym : DHMN7B; HMN7B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lower motor neuron disease, dynactin type; DHMN7B; Neuropathy, distal hereditary motor, harding type viib; Neuropathy, distal hereditary motor, with vocal cord paralysis, harding type viib; Hmn viib; Neuronopathy, distal hereditary motor, harding type viib; HMN7B;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynactin-1 gene (DCTN1, 601143.0001);

Prefixed ID : #607641;

Détails

Origin ID

607641;

UMLS CUI

C1843315;

Automatic exact mappings (from CISMeF team)
- Distal hereditary motor neuropathy type 7 [ORDO Disease]
- distal hereditary motor neuronopathy type 7B [DO Concept]
Currated CISMeF NLP mapping
- neuronopathy, distal hereditary motor, type viib [MeSH concept]
- neuronopathy, distal hereditary motor, type viib [MeSH Supplementary Concept]
DO Cross reference
- distal hereditary motor neuronopathy type 7B [DO Concept]
Genes related to phenotype
- Dynactin 1 [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Adult onset [HPO term]
- Amyotrophy involving the lower limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Breathing difficulty due to vocal cord paralysis [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Facial palsy [HPO term]
- Hand muscle atrophy [HPO term]
- Hand muscle weakness [HPO term]
- Lower limb muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Vocal cord paralysis [HPO term]
ORDO concept(s)
- Distal hereditary motor neuropathy type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- neuronopathy, distal hereditary motor, type viib [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type viib [MeSH concept]

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

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