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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: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.



show annotations for term's descendants           Sort by:
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM
ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More... NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      Urogenital Diseases 4763
        urinary system disease 2418
          kidney disease 2186
            Glomerular Diseases 415
              glomerulonephritis 408
                mesangial proliferative glomerulonephritis 49
                  Chronic Mesangial Proliferative Glomerulonephritis 41
                    membranoproliferative glomerulonephritis 39
                      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
paths to the root