Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000058807 Individual ID 00079048 Associated disease GACI1 Phenotype details calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; poor LV function, biventricular hypertrophy, hypertension, hypertrophic cardiomyopathy, mild pulmonary hypertension, dilated ascending aorta; renal failure with complete occlusion of renal arteries, hepatomegaly, narrowing of neck and renal vessels; no bisphosphonates; no hypophosphatemia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yvonne Nitschke Database submission license No license selected Created by Yvonne Nitschke Date created 2016-07-15 10:44:28 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.