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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 3:122,696,125...122,703,734
Ensembl chr 3:122,695,939...122,703,734
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      cerebrocostomandibular syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  Micrognathism 46
                    cerebrocostomandibular syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.