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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA ClinVar
OMIM
PMID:25047197 PMID:25504470 PMID:26240113 PMID:26971886 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      cerebrocostomandibular syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  Micrognathism 49
                    cerebrocostomandibular syndrome 1
paths to the root