hypotrichosis-lymphedema-telangiectasia syndrome

Term ID

DOID:0111361

Synonyms

• HLTS

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. https://www.ncbi.nlm.nih.gov/pubmed/12740761

References

• MESH:C564327
• OMIM:607823

Ontology

Human Disease   ( DOID:0111361 )