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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 7
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Accession:DOID:0070302 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: EDM7
 primary_id: OMIM:617719
For additional species annotation, visit the Alliance of Genome Resources.



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multiple epiphyseal dysplasia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 OMIM
ClinVar
PMID:20358597 PMID:21037275 PMID:21412251 PMID:25741868 PMID:28492532 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      bone development disease 1875
        osteochondrodysplasia 614
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia 7 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia 7 1
paths to the root