ZFIN Human Disease: X-linked distal spinal muscular atrophy 3

OBO ID: DOID:0111196

Term Name:	X-linked distal spinal muscular atrophy 3		Search Ontology:
Synonyms:	ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked distal hereditary motor neuropathy type 3 X-linked dSMA3 X-linked recessive distal spinal muscular atrophy
Definition:	A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. (2)
References:	MESH:C564506 OMIM:300489 ORDO:139557 SNOMEDCT_US_2023_03_01:766764008 UMLS_CUI:C1845359
Ontology:	Human Disease ( DOID:0111196 )

Relationships

is a type of:	spinal muscular atrophy X-linked recessive disease spinal muscular atrophy X-linked recessive disease Show first 5 Terms

OTHER X-linked distal spinal muscular atrophy 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP7A	atp7a	Neuronopathy, distal hereditary motor, X-linked	300489

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None