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telangiectasia, hereditary hemorrhagic, type 2 | RareConnect | RareConnect.io

/hereditary hemorrhagic telangiectasia

/telangiectasia, hereditary hemorrhagic, type 2

telangiectasia, hereditary hemorrhagic, type 2

Rare Disease

MONDO:0010880

Also Known As

ACVRL1 hereditary hemorrhagic telangiectasiahereditary hemorrhagic telangiectasia caused by mutation in ACVRL1telangiectasia, hereditary hemorrhagic, type 2HHT2ORW2Osler Weber Rendu syndrome type 2hereditary hemorrhagic telangiectasia type 2pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-relatedtelangiectasia hereditary hemorrhagic type 2

Definition

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:600376 ↗

GARD

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