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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
 primary_id: OMIM:273750
For additional species annotation, visit the Alliance of Genome Resources.


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: Three M syndrome 1 ClinVar
OMIM
PMID:16142236 PMID:19225462 PMID:21396581 PMID:24793695 PMID:24793696 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30980518 NCBI chr 9:16,629,491...16,643,527
Ensembl chr 9:16,629,401...16,643,182
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Three M syndrome 1 ClinVar PMID:30980518 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      3-M syndrome 3
        Three M Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              Dwarfism 495
                3-M syndrome 3
                  Three M Syndrome 1 2
paths to the root