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Hereditary hemorrhagic telangiectasia

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Description

An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.

ORDO

  • Mode of Inheritance

    VARIANTS

    354

    SEE THE VARIANTS →

    Genes

    • ACVRL1
    • ENG
    • GDF2
    • SMAD4

    External Links

    • OMIM
    • Orphanet

      774

    • HPO
    • Medgen

      C0039445

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