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RGD uses the Human Disease Ontology (DO, 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:Three M Syndrome 3
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Accession:DOID:9002003 term browser browse the term
Synonyms:exact_synonym: 3M Syndrome 3;   3M3
 primary_id: OMIM:614205
 alt_id: RDO:9000837
For additional species annotation, visit the Alliance of Genome Resources.

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Three M Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by OMIM:614205 OMIM
PMID:21737058 NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      3-M syndrome 3
        Three M Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              Dwarfism 495
                3-M syndrome 3
                  Three M Syndrome 3 1
paths to the root


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