ZFIN Human Disease: adult spinal muscular atrophy

OBO ID: DOID:0050529

Term Name:	adult spinal muscular atrophy		Search Ontology:
Synonyms:	SMA4 spinal muscular atrophy 4 SPINAL MUSCULAR ATROPHY, ADULT FORM SPINAL MUSCULAR ATROPHY, TYPE IV
Definition:	A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
References:	ICD10CM:G12.1 MESH:C563948 OMIM:271150 ORDO:83420 UMLS_CUI:C1838230
Ontology:	Human Disease ( DOID:0050529 )

Relationships

is a type of:	autosomal recessive disease spinal muscular atrophy autosomal recessive disease spinal muscular atrophy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SMN1	smn1	Spinal muscular atrophy-4	271150

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)