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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


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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 chr17:62,869,868...62,871,758
Ensembl chr17:62,869,870...62,871,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Urogenital Diseases 4677
        urinary system disease 2378
          kidney disease 2146
            Glomerular Diseases 346
              glomerulonephritis 339
                mesangial proliferative glomerulonephritis 46
                  Chronic Mesangial Proliferative Glomerulonephritis 39
                    membranoproliferative glomerulonephritis 37
                      hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
paths to the root