Global Variome shared LOVD

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

Phenotype #0000228350 Individual ID 00301039 Associated disease APRTD Phenotype details passed a urolithiasis; ultrasonographic examination demonstrated many small stones both kidneys Diagnosis/Initial APRT deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite APRTD Age/Examination 52y (52 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 2020-05-05 17:18:23 +02:00 (CEST) Date last edited 2020-05-05 17:27:04 +02:00 (CEST)

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