Term Name: | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
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Synonyms: | glomerulonephritis with sparse hair and telangiectases, HLT-renal defect syndrome, HLTRS, hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome, telangiectatic membranoproliferative glomerulonephritis |
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. |
Ontology: | Human Disease [DOID:0111360] ( DOID:0111360 ) |