OBO ID: DOID:0111360
Term Name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Search Ontology:
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 SOX18 on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/24697860
References:
Ontology: Human Disease   (DOID:0111360)
OTHER hypotrichosis-lymphedema-telangiectasia-renal defect syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX18 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None