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DOID:0111248 - cerebrocostomandibular syndrome
Disease Ontology 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.
Synonyms: CCM syndrome, CCMS, cerebro-costo-mandibular syndrome, rib gap defects with micrognathia,
Xenbase Genes
:
snrpb
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)