FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ID (Ontology) DOID:0111360 (Human Disease)
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.
Also Known As "glomerulonephritis with sparse hair and telangiectases" ; "HLT-renal defect syndrome" ; "HLTRS" (for all, see Synonyms field below)
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 Genes
 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome       1
 for disease ribbon | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome       1
 model of | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "glomerulonephritis with sparse hair and telangiectases" EXACT
    "HLT-renal defect syndrome" EXACT
    "HLTRS" EXACT OMO:0003012
    "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT
    "telangiectatic membranoproliferative glomerulonephritis" EXACT
Secondary IDs
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MIM:137940