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Table 2 Bone Dysplasia Ontology fact sheet

From: The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

Name

Bone Dysplasia Ontology

Namespace

http://purl.org/skeletome/bonedysplasia

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