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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 due to collagen 9 anomaly
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Accession:DOID:0070305 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). (DO)
Synonyms:narrow_synonym: COL9A2-related disorder
 xref: ORDO:166002
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 OMIM
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
multiple epiphyseal dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy OMIM
ClinVar
PMID:10090888 PMID:10655510 PMID:10678658 PMID:15551337 PMID:24033266 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
multiple epiphyseal dysplasia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 OMIM
ClinVar
PMID:9536098 PMID:11565064 PMID:16199547 PMID:16909383 PMID:17576681 More... NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      bone development disease 1760
        osteochondrodysplasia 604
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 2 1
              multiple epiphyseal dysplasia 3 1
              multiple epiphyseal dysplasia 6 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              osteochondrodysplasia 604
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 2 1
                    multiple epiphyseal dysplasia 3 1
                    multiple epiphyseal dysplasia 6 1
paths to the root