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DO Term : hypotrichosis-lymphedema-telangiectasia syndrome [DOID:0111361] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C564327,
  • OMIM:607823,
  • HLTS,
  • 607823
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents