|
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: CCMS, CCM syndrome, cerebro-costo-mandibular syndrome, rib gap defects with micrognathia
Xenbase Genes
:
snrpb
| MIM:117650 - CEREBROCOSTOMANDIBULAR SYNDROME; CCMS |
Other Model Organisms: Alliance, 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)