Global Variome shared LOVD

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

Phenotype #0000228348 Individual ID 00301037 Associated disease APRTD Phenotype details 20y-passing a number of urolithiasis, chronic renal failure Diagnosis/Initial APRT deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite APRTD Age/Examination 72y (72 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 17:19:50 +02:00 (CEST)

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