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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 6
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Accession:DOID:0070301 term browser browse the term
Definition:A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. (DO)
Synonyms:exact_synonym: EDM6
 broad_synonym: COL9A1-RELATED CONDITION;   COL9A1-RELATED DISORDER
 primary_id: OMIM:614135


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COL9A1-related condition | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6		 OMIM
CTD
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 21128
    Developmental Disease 18448
      bone development disease 2303
        osteochondrodysplasia 860
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 6 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              osteochondrodysplasia 860
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 6 1
paths to the root