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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 the SOX18 gene 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


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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      Urogenital Diseases 5144
        urinary system disease 2767
          kidney disease 2541
            Glomerular Diseases 429
              glomerulonephritis 422
                mesangial proliferative glomerulonephritis 51
                  Chronic Mesangial Proliferative Glomerulonephritis 42
                    membranoproliferative glomerulonephritis 40
                      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
paths to the root