OBO ID: DOID:0070351
Term Name: spinal muscular atrophy with lower extremity predominant 1 Search Ontology:
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 spinal muscular atrophy with lower extremity predominant 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DYNC1H1 Spinal muscular atrophy, lower extremity-predominant 1, AD 158600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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