ZFIN Human Disease: autosomal dominant distal hereditary motor neuronopathy 3

OBO ID: DOID:0111207

Term Name:	autosomal dominant distal hereditary motor neuronopathy 3		Search Ontology:
Synonyms:	distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB HMN IIB HMN2B
Definition:	An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. https://www.ncbi.nlm.nih.gov/pubmed/18832141
References:	OMIM:608634
Ontology:	Human Disease ( DOID:0111207 )

Relationships

is a type of:	autosomal dominant distal hereditary motor neuronopathy autosomal dominant distal hereditary motor neuronopathy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HSPB1	hspb1	Neuronopathy, distal hereditary motor, autosomal dominant 3	608634

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None