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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.

Disease References using Mouse Models (1)
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory