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Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 (MONDO:0008451)

An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0008451

Internal:9743

Synonyms

Charcot-Marie-Tooth disease, spinal, I

DHMN1

autosomal dominant distal juvenile spinal muscular atrophy type 1

dHMN1

distal hereditary motor neuronopathy type I

neuronopathy, distal hereditary motor, type 1

Charcot-Marie-Tooth disease, spinal, 1

HMN 1

HMN1

neuronopathy, distal hereditary motor, type I

neuropathy, distal hereditary motor, type 1

spinal muscular atrophy, distal, juvenile, autosomal dominant, 1

Mapped terms

DOID:0111200

GARD:0016953

MEDGEN:356618

MESH:C566675

NCIT:C132826

OMIM:182960

Orphanet:139518

UMLS:C1866784

Child terms

Unknown children.

Results

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