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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
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 2
ClinVar Annotator: match by OMIM:600204
OMIM
ClinVar
PMID:3238439, PMID:8528240, PMID:10364514, PMID:11565064, PMID:12244547, PMID:15633184, PMID:20358595, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29026132, PMID:30311386 NCBI chr 5:139,962,684...139,979,865
Ensembl chr 5:139,963,002...139,979,864
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 OMIM:600969
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 3
OMIM
ClinVar
PMID:10090888, PMID:10655510, PMID:10678658, PMID:15551337, PMID:24033266, PMID:25741868 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
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: Multiple epiphyseal dysplasia 6 OMIM
ClinVar
PMID:11565064, PMID:16909383, PMID:21421862, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        osteochondrodysplasia 446
          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 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.