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Metadata
ID	DOID:0111361
Name	hypotrichosis-lymphedema-telangiectasia syndrome
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
Xrefs	MESH:C564327 MIM:607823
Synonyms	HLTS [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance