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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: OMIM:615907
 alt_id: RDO:9001640
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          hereditary lymphedema 7
            hereditary lymphedema ID 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                hereditary lymphedema ID 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.