Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111361 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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