Global Variome shared LOVD

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

Phenotype #0000174494 Individual ID 00234073 Associated disease OI Phenotype details Height/weight 146cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (6); Maligned spine; Beighton 5/9; mild bruising Diagnosis/Initial osteogenesis imperfecta Inheritance Isolated (sporadic) Diagnosis/Definite OI-1 Age/Examination 30y (30 years) Age/Onset - Phenotype/Onset - Protein no collagen screen performed Owner name Global Variome, with Curator vacancy Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Global Variome, with Curator vacancy Date created 2019-01-13 12:23:00 +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.