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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:Jansen's metaphyseal chondrodysplasia
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Accession:DOID:0080020 term browser browse the term
Definition:A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. (DO)
Synonyms:exact_synonym: Jansen Type Metaphyseal Chondrodysplasia;   Jansen disease;   Jansen metaphyseal chondrodysplasia;   Jansen metaphyseal dysostosis;   metaphyseal chondrodysplasia Murk Jansen type
 primary_id: MESH:C537564
 alt_id: OMIM:156400;   RDO:0003428
For additional species annotation, visit the Alliance of Genome Resources.


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Jansen's metaphyseal chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:156400
ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type
ClinVar
OMIM
PMID:7701349 PMID:8076140 PMID:8703170 PMID:10487664 PMID:18559376 More... NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      bone development disease 1414
        osteochondrodysplasia 478
          metaphyseal dysplasia 12
            Jansen's metaphyseal chondrodysplasia 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              osteochondrodysplasia 478
                metaphyseal dysplasia 12
                  Jansen's metaphyseal chondrodysplasia 1
paths to the root