ZFIN Human Disease: X-linked spinal muscular atrophy 2

OBO ID: DOID:0111827

Term Name:	X-linked spinal muscular atrophy 2		Search Ontology:
Synonyms:	infantile-onset X-linked spinal muscular atrophy SMAX2 spinal muscular atrophy with arthrogryposis X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2
Definition:	A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. (3)
References:	GARD:8521 MESH:C535380 OMIM:301830 ORDO:1145 SNOMEDCT_US_2023_03_01:719836007 UMLS_CUI:C1844934
Ontology:	Human Disease ( DOID:0111827 )

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 spinal muscular atrophy 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UBA1	uba1	Spinal muscular atrophy, X-linked 2, infantile	301830

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None