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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: LMPH1A;   LMPHM1;   LYMPHATIC MALFORMATION 1;   MILROY DISEASE LYMPHEDEMA;   Nonne-Milroy lymphedema;   PCL;   early-onset primary congenital lymphedema;   hereditary lymphedema type I
 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 More... NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          hereditary lymphedema 12
            hereditary lymphedema IA 2
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal dominant disease 4485
                hereditary lymphedema IA 2
paths to the root