Global Variome shared LOVD

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

Phenotype #0000105567 Individual ID 00132804 Associated disease CEP Phenotype details see paper; chronic, progressive skin ulcerations since adolescence eventually disfigured sun-exposed face/hands; moderately anemic, hemoglobins ranging from 10 to 12 g/dL next decade;56y-hemoglobin 8 g/dL, red cell transfusions administered every 3w Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 44y (44 years) Age/Diagnosis 20y-30y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-09 17:24:28 +01:00 (CET) Date last edited 2017-11-09 17:45:56 +01:00 (CET)

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