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Term:hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
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Accession:DOID:0111360 term browser browse the term
Definition:An autosomal dominant disease characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in SOX18 on chromosome 20q13.33. (DO)
Synonyms:exact_synonym: HLT-renal defect syndrome;   HLTRS;   cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis;   glomerulonephritis with sparse hair and telangiectases;   glomerulonephritis, sparse hair, telangiectases;   hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome;   telangiectatic membranoproliferative glomerulonephritis
 primary_id: MESH:C536825
 alt_id: OMIM:137940
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hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox18 SRY-box transcription factor 18 JBrowse link 3 177,177,237 177,179,039 RGD:8554872
G Tcea2 transcription elongation factor A2 JBrowse link 3 177,187,686 177,195,898 RGD:8554872

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Term Annotations click to browse term
  disease 15602
    syndrome 5231
      hypotrichosis-lymphedema-telangiectasia syndrome 2
        hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Urogenital Diseases 4016
        urinary system disease 2053
          kidney disease 1836
            nephritis 421
              glomerulonephritis 368
                mesangial proliferative glomerulonephritis 49
                  Chronic Mesangial Proliferative Glomerulonephritis 41
                    membranoproliferative glomerulonephritis 39
                      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.