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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 1
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Accession:DOID:0080844 term browser browse the term
Definition:An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. (DO)
Synonyms:exact_synonym: OMOD1;   omodysplasia (Maroteaux);   omodysplasia type 1;   omodysplasia, autosomal recessive;   omodysplasia, autosomal recessive form;   omodysplasia, generalized form
 primary_id: MESH:C537746
 alt_id: OMIM:258315
 xref: ORDO:93329


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive omodysplasia		 OMIM
CTD
ClinVar		 PMID:19481194 PMID:25741868 PMID:28492532 NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Pathologic Processes 7999
        Growth Disorders 1012
          omodysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      musculoskeletal system disease 8202
        connective tissue disease 5695
          bone disease 4209
            bone development disease 2248
              osteochondrodysplasia 847
                Congenital Micromelic Dysplasia with Dislocation of Radius 1
                  omodysplasia 1 1
paths to the root