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Osler-rendu-weber syndrome 2 MeSH Supplementary Concept Data 2025


MeSH Supplementary
Osler-rendu-weber syndrome 2
Unique ID
C537139
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537139
Entry Term(s)
Telangiectasia, hereditary hemorrhagic, type 2
Registry Numbers
0
Heading Mapped to
*Telangiectasia, Hereditary Hemorrhagic
Frequency
42
Note
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 of Entry
2010/08/25
Revision Date
2015/09/27
Osler-rendu-weber syndrome 2 Preferred
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