| Metadata | |
|---|---|
| ID | DOID:0111360 |
| Name | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| 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 |
| Xrefs | |
| Synonyms |
glomerulonephritis with sparse hair and telangiectases [EXACT] HLT-renal defect syndrome [EXACT] HLTRS [EXACT] hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome [EXACT] telangiectatic membranoproliferative glomerulonephritis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |