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Disease Ontology Browser
cerebrocostomandibular syndrome (DOID:0111248)
Alliance: disease page
Synonyms: CCM syndrome; CCMS; cerebro-costo-mandibular syndrome; rib gap defects with micrognathia
Alt IDs: OMIM:117650, MESH:C562538, ORDO:1393, UMLS_CUI:C0265342
Definition: A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13.

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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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MGI 6.21
The Jackson Laboratory