Global Variome shared LOVD

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

Phenotype #0000080849 Individual ID 00101451 Associated disease NXD Phenotype details arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein WB JUP reduced size (82 kDa > 75 kDa) Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-03-31 16:10:09 +02:00 (CEST) Date last edited 2019-08-02 17:48:48 +02:00 (CEST)

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