Skip to main content

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