Osler-rendu-weber syndrome 2 [Supplementary Concept]
An autosomal dominant form of hereditary hemorrhagic telangiectasia characterized by later onset of oral and nasal mucosal TELANGIECTASES and more frequent dermal lesions than HHT1. Mutations in the ACVRL1 gene have been identified. OMIM: 600376
Date introduced: August 25, 2010
MeSH Unique ID: C537139
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Entry Terms:
- Telangiectasia, hereditary hemorrhagic, type 2