Search Ontology:
Human Disease

spinal muscular atrophy with lower extremity predominant 1

Term ID
DOID:0070351
Synonyms
  • spinal muscular atrophy with lower extremity predominance 1
Definition
A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/20697106/
References
Ontology
Human Disease   ( DOID:0070351 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models