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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:15240651, PMID:18559376, PMID:25741868, PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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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
          metaphyseal dysplasia 13
            Jansen's metaphyseal chondrodysplasia 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
                metaphyseal dysplasia 13
                  Jansen's metaphyseal chondrodysplasia 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.