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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 IA
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Accession:DOID:0070210 term browser browse the term
Definition:A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: EARLY-ONSET PRIMARY CONGENITAL LYMPHEDEMA;   LMPH1A;   LMPHM1;   LYMPHATIC MALFORMATION 1;   LYMPHEDEMA, HEREDITARY, TYPE I;   MILROY DISEASE LYMPHEDEMA;   NONNE-MILROY LYMPHEDEMA;   PCL
 narrow_synonym: EDEMA OF THE DORSUM OF FEET
 primary_id: OMIM:153100
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary lymphedema IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hereditary lymphedema type I OMIM
ClinVar
PMID:9817924 PMID:10835628 PMID:10856194 PMID:16924388 PMID:16965327 PMID:19289394 PMID:25741868 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Edema of the dorsum of feet ClinVar PMID:25741868 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          hereditary lymphedema 8
            hereditary lymphedema IA 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                hereditary lymphedema IA 2
paths to the root