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ONTOLOGY REPORT - ANNOTATIONS


Term:cerebrocostomandibular syndrome
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Accession:DOID:0111248 term browser browse the term
Definition:An autosomal dominant disease characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. (DO)
Synonyms:exact_synonym: CCM syndrome;   CCMS;   Cerebrocostomandibular-Like Syndrome;   cerebro-costo-mandibular syndrome;   rib gap defects with micrognathia
 primary_id: MESH:C562538
 alt_id: DOID:9004913;   OMIM:117650;   RDO:0012210
 xref: GARD:6026;   ORDO:1393
For additional species annotation, visit the Alliance of Genome Resources.


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cerebrocostomandibular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:8554872
RGD:7240710

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  disease 15620
    syndrome 5159
      cerebrocostomandibular syndrome 1
Path 2
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  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        Congenital Abnormalities 3598
          Musculoskeletal Abnormalities 1302
            Craniofacial Abnormalities 1046
              Maxillofacial Abnormalities 207
                Jaw Abnormalities 204
                  Micrognathism 38
                    cerebrocostomandibular syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.