FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spinal muscular atrophy with lower extremity predominant 1 ID (Ontology) DOID:0070351 (Human Disease)
Definition A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Also Known As "spinal muscular atrophy with lower extremity predominance 1"
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 spinal muscular atrophy with lower extremity predominant 1       1      1
 for disease ribbon | spinal muscular atrophy with lower extremity predominant 1       1       --
 model of | spinal muscular atrophy with lower extremity predominant 1       1       --
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autosomal dominant disease__
spinal muscular atrophy_____|
                            spinal muscular atrophy with lower extremity predominant
                             |__spinal muscular atrophy with lower extremity predominant 1  2 rec.
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Is a spinal muscular atrophy with lower extremity predominant
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Synonyms
  • "spinal muscular atrophy with lower extremity predominance 1" EXACT
Secondary IDs
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MIM:158600