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DOID:0111360 - hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Disease Ontology 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.
Synonyms: HLT-renal defect syndrome, HLTRS, glomerulonephritis with sparse hair and telangiectases, hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome, telangiectatic membranoproliferative glomerulonephritis,
Xenbase Genes
:
sox18
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)