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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 5
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Accession:DOID:0070299 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. (DO)
Synonyms:exact_synonym: BHMED;   EDM5;   bilateral hereditary microepiphyseal dysplasia;   multiple epiphyseal dysplasia, MATN3-related
 primary_id: MESH:C535505
 alt_id: OMIM:607078;   RDO:0000647
 xref: GARD:9794;   ORDO:93311
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
multiple epiphyseal dysplasia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY
ClinVar Annotator: match by OMIM:607078
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 5
OMIM
ClinVar
PMID:11479597, PMID:12736871, PMID:12884427, PMID:13849708, PMID:14729835, PMID:15948199, PMID:18205203, PMID:21922596, PMID:21965141, PMID:25741868, PMID:28146470, PMID:28492532 NCBI chr 6:34,071,428...34,091,048
Ensembl chr 6:34,071,428...34,091,048
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY ClinVar PMID:25741868 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
JBrowse link

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 5 2
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 5 2
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.