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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:omodysplasia
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Accession:DOID:0060288 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO)
Synonyms:xref: OMIM:PS258315;   ORDO:2733


show annotations for term's descendants           Sort by:
omodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC6 glypican 6 ISO ClinVar Annotator: match by term: Omodysplasia ClinVar NCBI chr11:62,436,143...63,560,908
Ensembl chr11:62,438,453...63,560,897 		JBrowse link
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 term: Autosomal recessive omodysplasia | ClinVar Annotator: match by term: Omodysplasia generalized form OMIM
ClinVar		 PMID:19481194 PMID:25741868 PMID:28492532 NCBI chr11:62,436,143...63,560,908
Ensembl chr11:62,438,453...63,560,897 		JBrowse link
omodysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Autosomal dominant omodysplasia OMIM
ClinVar		 PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:30455931 More... NCBI chr12:18,740,417...18,742,301
Ensembl chr12:18,740,653...18,742,420 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      bone development disease 2249
        osteochondrodysplasia 851
          omodysplasia 2
            omodysplasia 1 1
            omodysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Skin and Connective Tissue Diseases 6721
        connective tissue disease 5225
          bone disease 3783
            bone development disease 2249
              osteochondrodysplasia 851
                omodysplasia 2
                  omodysplasia 1 1
                  omodysplasia 2 1
paths to the root