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ONTOLOGY REPORT - ANNOTATIONS


Term:hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
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Accession:DOID:0111360 term browser browse the term
Definition:A syndrome 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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:7240710
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 15503
    syndrome 5771
      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
Path 2
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  disease 15503
    disease of anatomical entity 14857
      Urogenital Diseases 3989
        urinary system disease 2022
          kidney disease 1809
            nephritis 417
              glomerulonephritis 366
                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.