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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 Ccdc8 coiled-coil domain containing 8 ISS OMIM:273750 | OMIM:612921 | OMIM:614205 MouseDO NCBI chr 1:77,679,521...77,682,849
Ensembl chr 1:77,679,218...77,683,090
JBrowse link
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:17675530 PMID:28492532 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
ISS
ClinVar Annotator: match by term: 3-M syndrome
OMIM:273750 | OMIM:612921 | OMIM:614205
ClinVar
MouseDO
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:21396581 PMID:22325252 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 18032
    syndrome 9456
      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 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              Dwarfism 693
                3-M syndrome 3
                  Three M Syndrome 1 2
                  Three M Syndrome 2 1
                  Three M Syndrome 3 1
paths to the root