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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:hereditary lymphedema ID
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Accession:DOID:0070209 term browser browse the term
Definition:A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. (DO)
Synonyms:exact_synonym: LMPH1D
 primary_id: MIM:615907

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hereditary lymphedema ID term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfc vascular endothelial growth factor C ISO ClinVar Annotator: match by term: Lymphedema, hereditary, ID OMIM
ClinVar		 PMID:23410910 PMID:24744435 PMID:25741868 PMID:30071673 NCBI chrNW_004624769:7,689,812...7,817,366
Ensembl chrNW_004624769:7,689,407...7,817,450 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    Developmental Disease 12414
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11652
        genetic disease 11374
          hereditary lymphedema 16
            hereditary lymphedema ID 1
Path 2
Term Annotations click to browse term
  disease 14170
    Developmental Disease 12414
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11652
        genetic disease 11374
          monogenic disease 9687
            autosomal genetic disease 9031
              autosomal dominant disease 5979
                hereditary lymphedema ID 1
paths to the root