Global Variome shared LOVD

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

Phenotype #0000326427 Individual ID 00436247 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPD Phenotype details sunburn severity score 3; 23y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 7; unscheduled DNA synthesis 13 Inheritance Familial, autosomal recessive Age/Examination 47y (47 years) Age/Diagnosis 3y 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.