autosomal dominant distal hereditary motor neuronopathy 12

Term ID

DOID:0111205

Synonyms

distal hereditary motor neuronopathy type 5B
distal HMN VB
distal spinal muscular atrophy type VB

Definition

An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. https://www.ncbi.nlm.nih.gov/pubmed/22703882

References

MIM:614751

Ontology

Human Disease ( DOID:0111205 )

Relationships

is a type of: autosomal dominant distal hereditary motor neuronopathy

autosomal dominant distal hereditary motor neuronopathy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models