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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 ClinVar
OMIM
PMID:20358597, PMID:21037275, PMID:21412251, PMID:25741868, PMID:28742282 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 7 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 7 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.