OBO ID: DOID:0111361
Term Name: hypotrichosis-lymphedema-telangiectasia syndrome Search Ontology:
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 SOX18 on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/12740761
References:
Ontology: Human Disease   (DOID:0111361)
OTHER hypotrichosis-lymphedema-telangiectasia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX18 Hypotrichosis-lymphedema-telangiectasia syndrome 607823
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None