autosomal dominant distal hereditary motor neuronopathy

Term ID

DOID:0111198

Synonyms

autosomal dominant dHMN
autosomal dominant distal hereditary motor neuropathy
autosomal dominant distal spinal muscular atrophy

Definition

A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. https://www.ncbi.nlm.nih.gov/pubmed/15358725

References

MIM:PS182960
ORDO:140465

Ontology

Human Disease ( DOID:0111198 )

Relationships

is a type of: autosomal dominant disease spinal muscular atrophy

autosomal dominant disease spinal muscular atrophy Show first 5 Terms
has subtype: autosomal dominant distal hereditary motor neuronopathy 1 autosomal dominant distal hereditary motor neuronopathy 2 autosomal dominant distal hereditary motor neuronopathy 3 autosomal dominant distal hereditary motor neuronopathy 4 autosomal dominant distal hereditary motor neuronopathy 5 ... Show All 14 Terms

autosomal dominant distal hereditary motor neuronopathy 1 autosomal dominant distal hereditary motor neuronopathy 2 autosomal dominant distal hereditary motor neuronopathy 3 autosomal dominant distal hereditary motor neuronopathy 4 autosomal dominant distal hereditary motor neuronopathy 5 autosomal dominant distal hereditary motor neuronopathy 6 autosomal dominant distal hereditary motor neuronopathy 7 autosomal dominant distal hereditary motor neuronopathy 8 autosomal dominant distal hereditary motor neuronopathy 9 autosomal dominant distal hereditary motor neuronopathy 10 autosomal dominant distal hereditary motor neuronopathy 11 autosomal dominant distal hereditary motor neuronopathy 12 autosomal dominant distal hereditary motor neuronopathy 13 autosomal dominant distal hereditary motor neuronopathy 14 Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models