ZFIN Human Disease: autosomal dominant distal hereditary motor neuronopathy 5

OBO ID: DOID:0111203

Term Name:	autosomal dominant distal hereditary motor neuronopathy 5		Search Ontology:
Synonyms:	DHMN5 distal hereditary motor neuronopathy type 5 distal hereditary motor neuronopathy type 5A distal hereditary motor neuropathy type V distal HMN V distal spinal muscular atrophy type V distal spinal muscular atrophy with upper limb predominance DSMAV HMN5
Definition:	An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (2)
References:	MESH:C563443 OMIM:600794 ORDO:139536 SNOMEDCT_US_2023_03_01:1197152005 UMLS_CUI:C1833308
Ontology:	Human Disease ( DOID:0111203 )

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
GARS	gars1	Neuronopathy, distal hereditary motor, autosomal dominant 5	600794

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None