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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:Warburg-Cinotti Syndrome
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Accession:DOID:9000662 term browser browse the term
Definition:A disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis.
Synonyms:exact_synonym: WRCN
 primary_id: OMIM:618175
For additional species annotation, visit the Alliance of Genome Resources.


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Warburg-Cinotti Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM
PMID:17103436 PMID:23637089 PMID:25741868 PMID:30449416 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      bone development disease 1305
        Acro-Osteolysis 8
          Warburg-Cinotti Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        connective tissue disease 4135
          bone disease 3505
            bone remodeling disease 426
              bone resorption disease 350
                Osteolysis 23
                  Acro-Osteolysis 8
                    Warburg-Cinotti Syndrome 1
paths to the root