FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cerebrocostomandibular syndrome ID (Ontology) DOID:0111248 (Human Disease)
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.
Also Known As "CCM syndrome" ; "CCMS" ; "cerebro-costo-mandibular syndrome" (for all, see Synonyms field below)
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DO.org
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 Genes
 cerebrocostomandibular syndrome       1
 for disease ribbon | cerebrocostomandibular syndrome       1
 model of | cerebrocostomandibular syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                cerebrocostomandibular syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
Part of
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Synonyms
  • "CCM syndrome" EXACT
    "CCMS" EXACT OMO:0003012
    "cerebro-costo-mandibular syndrome" EXACT
    "rib gap defects with micrognathia" EXACT
Secondary IDs
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GARD:6026
MESH:C562538
MIM:117650
ORDO:1393
SNOMEDCT_US_2023_03_01:51780007
UMLS_CUI:C0265342