Global Variome shared LOVD

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

Phenotype #0000228432 Individual ID 00301128 Associated disease APRTD Phenotype details see paper; ..., renal failure; 17y-history of recurrent renal staghorn lithiasis on both sides, revealed by ultrasonography Diagnosis/Initial APRT deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite APRTD Age/Examination 48y (48 years) 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 2020-05-08 10:34:42 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.