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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

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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 Cul7 cullin 7 ISO ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome ClinVar PMID:16142236 PMID:17675530 PMID:19225462 PMID:21396581 PMID:21548126 More... NCBI chrNW_004936476:16,886,416...16,901,532
Ensembl chrNW_004936476:16,887,610...16,901,458 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3-M syndrome ClinVar NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708 		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 | ClinVar Annotator: match by term: CUL7-related condition OMIM
ClinVar		 PMID:16142236 PMID:17675530 PMID:19225462 PMID:21383554 PMID:21396581 More... NCBI chrNW_004936476:16,886,416...16,901,532
Ensembl chrNW_004936476:16,887,610...16,901,458 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 1 ClinVar PMID:30980518 NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708 		JBrowse link
Three M Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: 3M syndrome 2 ClinVar PMID:16199547 PMID:19481195 PMID:22279524 PMID:25500575 PMID:25741868 More... NCBI chrNW_004936823:393,878...404,348
Ensembl chrNW_004936823:393,842...404,366 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: 3M syndrome 2
ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition		 OMIM
ClinVar		 PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 PMID:20164589 More... NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708 		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 | ClinVar Annotator: match by term: Three M syndrome 3 OMIM
ClinVar		 PMID:21737058 PMID:25741868 PMID:28492532 PMID:28675896 NCBI chrNW_004936664:429,733...432,673
Ensembl chrNW_004936664:430,411...432,256 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      3-M syndrome 4
        Three M Syndrome 1 2
        Three M Syndrome 2 2
        Three M Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              Dwarfism 810
                3-M syndrome 4
                  Three M Syndrome 1 2
                  Three M Syndrome 2 2
                  Three M Syndrome 3 1
paths to the root