Global Variome shared LOVD

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

Phenotype #0000286406 Individual ID 00393166 Associated disease PC Diagnosis/Initial pachyonychia congenita Diagnosis/Definite PC3 Phenotype details see paper; ..., 1d-all nails thickened (fingers, toes); follicular hyperkeratosis buttocks; no oral leucokeratosis; normal hair, no natal teeth, no pilosebaceous cysts Inheritance Familial, autosomal dominant Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-26 16:38:21 +01:00 (CET) Date last edited 2021-11-26 16:40:52 +01:00 (CET)

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