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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 disorder
 primary_id: MESH:C535502
 alt_id: OMIM:600204
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 OMIM:600204
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 2
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 2 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.