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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cerebrocostomandibular syndrome
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Accession:DOID:0111248 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CCM syndrome;   CCMS;   cerebro-costo-mandibular syndrome;   cerebrocostomandibular-like syndrome;   rib gap defects with micrognathia
 primary_id: MESH:C562538
 alt_id: OMIM:117650
 xref: GARD:6026;   ORDO:1393


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cerebrocostomandibular syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO
ISS		 DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome
CTD Direct Evidence: marker/mechanism
OMIM:117650		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More... RGD:155641254 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      cerebrocostomandibular syndrome 1
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        Congenital Abnormalities 7410
          Musculoskeletal Abnormalities 3206
            Craniofacial Abnormalities 2556
              Maxillofacial Abnormalities 299
                Jaw Abnormalities 253
                  Micrognathism 51
                    cerebrocostomandibular syndrome 1
paths to the root