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DO Term : hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [DOID:0111360] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • HLT-renal defect syndrome,
  • telangiectatic membranoproliferative glomerulonephritis,
  • HLTRS,
  • 137940,
  • glomerulonephritis with sparse hair and telangiectases,
  • hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome,
  • OMIM:137940
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Ontology Term --> Direct children

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