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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:Congenital Micromelic Dysplasia with Dislocation of Radius
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Accession:DOID:9006502 term browser browse the term
Synonyms:exact_synonym: Micromelic dysplasia dislocation of radius
 primary_id: MESH:C537557
 alt_id: RDO:0003419
For additional species annotation, visit the Alliance of Genome Resources.


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Omodysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc6 glypican 6 ISO ClinVar Annotator: match by OMIM:258315
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Omodysplasia 1
ClinVar Annotator: match by term: Autosomal recessive omodysplasia
OMIM
ClinVar
CTD
PMID:19481194, PMID:28492532 NCBI chr15:102,164,091...103,174,721
Ensembl chr15:102,164,751...103,170,847
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      bone development disease 1343
        osteochondrodysplasia 446
          Congenital Micromelic Dysplasia with Dislocation of Radius 1
            Omodysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 5478
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              osteochondrodysplasia 446
                Congenital Micromelic Dysplasia with Dislocation of Radius 1
                  Omodysplasia 1 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.