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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:Winchester syndrome
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Accession:DOID:0080696 term browser browse the term
Definition:A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. (DO)
Synonyms:exact_synonym: WNCHRS;   Winchester disease;   Winchester-Grossman disease;   Winchester-Grossman syndrome
 xref: GARD:7894;   MESH:C536709;   MONDO:0010201;   NCI:C170731;   OMIM:277950


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Winchester syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpcat2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Winchester syndrome		 OMIM
CTD
ClinVar		 PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Winchester-Grossman syndrome ClinVar PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Winchester syndrome 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone inflammation disease 1494
              arthropathy 1473
                Contracture 136
                  Winchester syndrome 3
paths to the root