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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 2
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Accession:DOID:0070298 term browser browse the term
Definition:A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: EDM2
 broad_synonym: COL9A2-RELATED CONDITION;   COL9A2-related disorder
 primary_id: MESH:C535502
 alt_id: OMIM:600204


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multiple epiphyseal dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2		 OMIM
CTD
ClinVar		 PMID:3238439 PMID:8528240 PMID:9536098 PMID:10364514 PMID:11565064 More... NCBI chr 5:134,607,616...134,624,678
Ensembl chr 5:134,607,616...134,624,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        osteochondrodysplasia 861
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 2 1
paths to the root