Global Variome shared LOVD

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

Phenotype #0000288513 Individual ID 00395313 Associated disease FOP Phenotype details see paper; ..., no heterotopic ossification, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, minor congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; Diagnosis/Initial fibrodysplasia ossificans progressiva variant Inheritance Familial, autosomal dominant Diagnosis/Definite FOP Age/Examination - Age/Diagnosis - 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 2021-12-05 10:19:51 +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.