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Summary Literature (0)
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 SOX18 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


OMIM:
OMIM:137940 - HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

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)