RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
HLT-renal defect syndrome; HLTRS; cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis; glomerulonephritis with sparse hair and telangiectases; glomerulonephritis, sparse hair, telangiectases; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; telangiectatic membranoproliferative glomerulonephritis