Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Disease ID: disease_node_20037
Connections displayed (default: 10).
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| Dbxref | MIM:137940 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | HLT-renal defect syndrome, HLTRS, glomerulonephritis with sparse hair and telangiectases, hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome, telangiectatic membranoproliferative glomerulonephritis |
| Doid Label | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20037 |
| Doid Id | DOID_0111360 |
| Label | Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)