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Disease Ontology Browser
spinal muscular atrophy with lower extremity predominant 1 (DOID:0070351)
Alliance: disease page
Synonyms: spinal muscular atrophy with lower extremity predominance 1
Alt IDs: OMIM:158600
Definition: A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory