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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 Syndrome;   Three-M Slender-Boned Nanism;   Yakut short stature syndrome;   dolichospondylic dysplasia
 narrow_synonym: GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME
 primary_id: MESH:C535314
 alt_id: RDO:0000360
 xref: GARD:5667;   OMIM:PS273750;   ORDO:2616
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by OMIM:273750
ClinVar Annotator: match by term: 3-M syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Yakut short stature syndrome
ClinVar
CTD
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: Three 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: Three M syndrome 1 ClinVar
OMIM
PMID:16142236 PMID:19225462 PMID:21396581 PMID:24793695 PMID:24793696 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: Three M 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 OMIM:612921
ClinVar Annotator: match by term: Three M 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: Three M syndrome 3
ClinVar Annotator: match by OMIM:614205
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 17205
    syndrome 8125
      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 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              Dwarfism 495
                3-M syndrome 3
                  Three M Syndrome 1 2
                  Three M Syndrome 2 1
                  Three M Syndrome 3 1
paths to the root