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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 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link
G Cul7 cullin 7 ISO ClinVar Annotator: match by OMIM:273750
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Yakut short stature syndrome
ClinVar
CTD
PMID:17675530 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
ISS
ClinVar Annotator: match by term: Three M syndrome
OMIM:273750 | OMIM:612921 | OMIM:614205
ClinVar
MouseDO
NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
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, 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
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, PMID:25741868, PMID:25923536, PMID:27796265, PMID:28492532, PMID:28969986 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
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 OMIM:614205 OMIM
ClinVar
PMID:21737058 NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      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 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                3-M syndrome 3
                  Three M Syndrome 1 2
                  Three M Syndrome 2 1
                  Three M Syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.