Bio-LarK

SPARQL Endpoint: Rare bone disorders

Description

This SPARQL Endpoint integrates rare bone disorders knowledge retrieve from the following sources:

The International Skeletal Dysplasia Society: ISDS
The Orphanet Consortium: Orphanet
Online Mendelian Inheritance in Man: OMIM
Human Phenotype Ontology: HPO

Entities

383 Genes
1146 Bone disorders
51 Groups of bone disorders

Integration