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DOID:0111361 - hypotrichosis-lymphedema-telangiectasia syndrome
Disease Ontology 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.
Synonyms: HLTS
Xenbase Genes
:
sox18
| MIM:607823 - HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)