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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:Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
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Accession:DOID:9007294 term browser browse the term
Synonyms:primary_id: MESH:C567188


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Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ClinVar PMID:15523639 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    syndrome 11278
      lymphedema-distichiasis syndrome 1
        Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              glucose metabolism disease 2156
                diabetes mellitus 1663
                  Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
paths to the root