spinal muscular atrophy with lower extremity predominant 2B Disease Ontology Browser

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Disease Ontology Browser

spinal muscular atrophy with lower extremity predominant 2B (DOID:0070350)
Alliance: disease page
Synonyms: spinal muscular atrophy with lower extremity predominance 2B
Alt IDs: OMIM:618291
Definition: A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22.

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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