Phenotype #0000286425

Global Variome shared LOVD

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

Individual ID	00393185
Associated disease	PC
Diagnosis/Initial	pachyonychia congenita
Diagnosis/Definite	PC1
Phenotype details	pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 50y-nail changes; 3y-12y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; very mild nail changes
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-26 18:25:59 +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.