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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:3-M syndrome
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Accession:DOID:0060241 term browser browse the term
Definition:A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO)
Synonyms:exact_synonym: 3M syndrome;   Gloomy Face Syndrome;   Le Merrer syndrome;   Miller-McKusick-Malvaux syndrome;   Miller-McKusick-Malvaux-Syndrome (3M Syndrome);   Three-M Slender-Boned Nanism;   Yakut short stature syndrome;   dolichospondylic dysplasia;   three-M syndrome
 narrow_synonym: GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME
 primary_id: MESH:C535314
 xref: GARD:5667;   OMIM:PS273750;   ORDO:2616
For additional species annotation, visit the Alliance of Genome Resources.



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3-M syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul7 cullin 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome
CTD
ClinVar
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21548126 PMID:23900270 More... NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3-M syndrome ClinVar NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
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 OMIM
ClinVar
PMID:16142236 PMID:17675530 PMID:19225462 PMID:21383554 PMID:21396581 More... NCBI chr 9:14,319,102...14,333,035
Ensembl chr 9:14,319,108...14,332,741
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 1 ClinVar PMID:30980518 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
Three M Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 2 OMIM
ClinVar
PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 PMID:20164589 More... NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
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 term: 3M syndrome 3 OMIM
ClinVar
PMID:21737058 PMID:25741868 PMID:28492532 PMID:28675896 NCBI chr 1:77,679,521...77,682,849
Ensembl chr 1:77,679,218...77,683,090
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      3-M syndrome 3
        Three M Syndrome 1 2
        Three M Syndrome 2 1
        Three M Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      musculoskeletal system disease 7314
        connective tissue disease 5170
          bone disease 3847
            bone development disease 1906
              Dwarfism 744
                3-M syndrome 3
                  Three M Syndrome 1 2
                  Three M Syndrome 2 1
                  Three M Syndrome 3 1
paths to the root