Global Variome shared LOVD

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

Phenotype #0000271374 Individual ID 00376164 Associated disease MANDP2 Phenotype details scoliosis (HP:0002650), metaphyseal fraying (HP:0003025), genu valgum (HP:0002857) Diagnosis/Initial metaphyseal dysplasia Inheritance Familial, autosomal recessive Diagnosis/Definite MANDP2 Age/Examination 01y07m (1 year, 7 months) Age/Diagnosis 03y03m Age/Onset - Phenotype/Onset - Protein - Owner name Karen E. Heath Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Karen E. Heath Date created 2021-06-18 12:01:05 +02:00 (CEST) Date last edited 2021-06-21 14:56:25 +02:00 (CEST)

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