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Disease Ontology Browser
hypotrichosis-lymphedema-telangiectasia syndrome (DOID:0111361)
Alliance: disease page
Synonyms: HLTS
Alt IDs: OMIM:607823, MESH:C564327
Definition: A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory