Table 2

Bone Dysplasia Ontology fact sheet

Name

Bone Dysplasia Ontology


Namespace

http://purl.org/skeletome/bonedysplasia webcite

Prefix

BDO

Scope

skeletal dysplasias, genes, proteins,

gene mutations and phenotypic

characteristics in human

Format

OWL-DL

Number of classes

1228

Dependencies (import)

HP, PATO, NCI (Gene mutation types)

Dependencies (weak)

FMA, REAMS

Annotations

rdfs:label, skos:altLabel, uniprot_id

entrezgene_id, ref_seq, mesh_id, locus,

omim_no, umls_cui, accession_no

skos:description


Groza et al. BMC Bioinformatics 2012 13:50   doi:10.1186/1471-2105-13-50

Open Data