Smith-McCort dysplasia 1 Disease Ontology Browser

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Disease Ontology Browser

Smith-McCort dysplasia 1 (DOID:0081270)
Alliance: disease page
Alt IDs: OMIM:607326
Definition: A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.

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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