Global Variome shared LOVD

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

Phenotype #0000286272 Individual ID 00393031 Associated disease PC Diagnosis/Initial pachyonychia congenita Diagnosis/Definite PC1 Phenotype details pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis, Inheritance Familial, autosomal dominant Age/Examination - 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 2021-11-25 17:22:01 +01:00 (CET) Date last edited N/A

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