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RGD uses the Human Disease Ontology (DO, 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
 primary_id: MESH:C536709
 alt_id: OMIM:277950
 xref: GARD:7894;   NCI:C170731
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by term: Winchester syndrome OMIM
PMID:4238825 PMID:22922033 PMID:25741868 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 18256
    syndrome 9802
      Winchester syndrome 3
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      Skin and Connective Tissue Diseases 6841
        connective tissue disease 5160
          bone disease 3834
            bone inflammation disease 1338
              arthropathy 1321
                Contracture 76
                  Winchester syndrome 3
paths to the root