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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

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Jansen's metaphyseal chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type ClinVar NCBI chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia Murk Jansen type | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type OMIM
ClinVar		 PMID:7701349 PMID:8076140 PMID:8703170 PMID:9536098 PMID:10487664 More... NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    Developmental Disease 17376
      bone development disease 2245
        osteochondrodysplasia 856
          metaphyseal dysplasia 14
            Jansen's metaphyseal chondrodysplasia 2
Path 2
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14861
      musculoskeletal system disease 7667
        connective tissue disease 5210
          bone disease 3779
            bone development disease 2245
              osteochondrodysplasia 856
                metaphyseal dysplasia 14
                  Jansen's metaphyseal chondrodysplasia 2
paths to the root