ZFIN Human Disease: autosomal dominant distal hereditary motor neuronopathy 12

OBO ID: DOID:0111205

Term Name:	autosomal dominant distal hereditary motor neuronopathy 12		Search Ontology:
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:	OMIM: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 autosomal dominant distal hereditary motor neuronopathy 12 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
REEP1	reep1	?Neuronopathy, distal hereditary motor, autosomal dominant 12	614751

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None