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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:Three M Syndrome 1
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Accession:DOID:9005349 term browser browse the term
Synonyms:exact_synonym: 3M Syndrome 1;   3M1;   CUL7-RELATED CONDITION
 primary_id: OMIM:273750


show annotations for term's descendants           Sort by:
Three M Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition OMIM
ClinVar		 PMID:16142236 PMID:17675530 PMID:19225462 PMID:21383554 PMID:21396581 More... NCBI chr17:46,961,264...46,975,290
Ensembl chr17:46,961,263...46,975,290 		JBrowse link
G Obsl1 obscurin-like 1 ISO ClinVar Annotator: match by term: 3M syndrome 1 ClinVar PMID:30980518 NCBI chr 1:75,462,469...75,483,134
Ensembl chr 1:75,455,954...75,483,096 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      3-M syndrome 4
        Three M Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2297
              Dwarfism 861
                3-M syndrome 4
                  Three M Syndrome 1 2
paths to the root