Global Variome shared LOVD

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Phenotype #0000330506 Individual ID 00440594 Associated disease HHT Phenotype details see paper; ..., colonic and gastric polyposis, nosebleeds, mucocutaneous telangiectasia, pulmonary AVMs treated by embolization; JPHT family history Diagnosis/Initial hereditary hemorrhagic telangiectasia Inheritance Familial, autosomal dominant Diagnosis/Definite JPHT Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-04 16:16:43 +01:00 (CET) Date last edited N/A

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