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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 IC
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Accession:DOID:0070208 term browser browse the term
Definition:A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: LMPH1C
 primary_id: OMIM:613480
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary lymphedema IC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by OMIM:613480
ClinVar Annotator: match by term: Lymphedema, hereditary, IC
OMIM
ClinVar
PMID:20537300 PMID:21266381 PMID:28492532 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          hereditary lymphedema 12
            hereditary lymphedema IC 1
Path 2
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          monogenic disease 7223
            autosomal genetic disease 6350
              autosomal dominant disease 4486
                hereditary lymphedema IC 1
paths to the root