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ONTOLOGY REPORT - ANNOTATIONS


Term:hypotrichosis-lymphedema-telangiectasia syndrome
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Accession:DOID:0111361 term browser browse the term
Definition:A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33. (DO)
Synonyms:exact_synonym: HLTS
 primary_id: MESH:C564327
 alt_id: OMIM:607823
For additional species annotation, visit the Alliance of Genome Resources.


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hypotrichosis-lymphedema-telangiectasia 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:1599075
RGD:7240710
RGD:8554872
G Tcea2 transcription elongation factor A2 JBrowse link 3 177,187,686 177,195,898 RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      hypotrichosis-lymphedema-telangiectasia syndrome 2
        hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 2
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        sensory system disease 4666
          skin disease 2495
            hair disease 227
              hypotrichosis 111
                hypotrichosis-lymphedema-telangiectasia syndrome 2
                  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.