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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:multiple epiphyseal dysplasia 3
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Accession:DOID:0070304 term browser browse the term
Definition:A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: EDM3;   multiple epiphyseal dysplasia 3 with or without myopathy
 narrow_synonym: multiple epiphyseal dysplasia 3 with myopathy
 primary_id: MESH:C535503
 alt_id: OMIM:600969


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multiple epiphyseal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A3 collagen type IX alpha 3 chain susceptibility ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy ClinVar
OMIM		 PMID:10090888 PMID:10655510 PMID:10678658 PMID:15551337 PMID:16199547 More... NCBI chr20:59,203,959...59,229,221
Ensembl chr20:60,499,089...60,521,871 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      bone development disease 2299
        osteochondrodysplasia 870
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 3 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2299
              osteochondrodysplasia 870
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 3 1
paths to the root