ZFIN Human Disease: autosomal recessive distal hereditary motor neuronopathy 2

OBO ID: DOID:0111065

Term Name:	autosomal recessive distal hereditary motor neuronopathy 2		Search Ontology:
Synonyms:	autosomal recessive distal spinal muscular atrophy 2 dHMNJ distal hereditary motor neuropathy Jerash type distal spinal muscular atrophy 2 DSMA2 spinal muscular atrophy Jerash type
Definition:	A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/26078401
References:	GARD:10133 MESH:C535715 OMIM:605726 ORDO:139552 SNOMEDCT_US_2023_03_01:763533003 UMLS_CUI:C1854023
Ontology:	Human Disease ( DOID:0111065 )

Relationships

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

OTHER autosomal recessive distal hereditary motor neuronopathy 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SIGMAR1	sigmar1	?Neuronopathy, distal hereditary motor, autosomal recessive 2	605726

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None