Global Variome shared LOVD

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

Phenotype #0000326399 Individual ID 00436219 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPC Phenotype details sunburn severity score 0; 6y-first cancer, squamous cell carcinoma; no malignant melanoma; 3 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15 Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis 2y 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 2023-08-31 14:14:49 +02:00 (CEST) Date last edited N/A

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