Search Ontology:
Human Disease

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Term ID
DOID:0111360
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. https://www.ncbi.nlm.nih.gov/pubmed/24697860
References
Ontology
Human Disease   ( DOID:0111360 )
Relationships
is a type of
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Genes Involved
Zebrafish Models