Global Variome shared LOVD

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

Phenotype #0000321988 Individual ID 00431393 Associated disease CGD Phenotype details see paper; ..., 4m-seizure-like activity requiring hospitalization, skin infection groin, mpetigo; mild elevation transaminases, hepatosplenomegaly; chronic granulomatous disease Diagnosis/Initial chronic granulomatous disease Inheritance Familial, X-linked recessive Diagnosis/Definite CGB Age/Examination 00y23m (23 months) Age/Onset 00y04m 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 2023-02-12 11:44:04 +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.