Global Variome shared LOVD

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

Phenotype #0000315735 Individual ID 00424539 Associated disease EDSVASC Phenotype details Positive for easy bruising, thin/translucent skin, characteristic facial features and hypermobility of small joints. Family history is significant: Mother died at 32 years, aortic dissection; grandfather, died at 30s, aortic dissection. Diagnosis/Initial vEDS Inheritance Familial Diagnosis/Definite - Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Oumaima Nehaili Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Oumaima Nehaili Date created 2022-11-20 17:14:37 +01:00 (CET) Date last edited 2024-10-17 10:25:07 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.