Skip to main content

Table 1 The rare bone disorder ontology fact sheet

From: Capturing domain knowledge from multiple sources: the rare bone disorders use case

Prefix RBDO
Scope Bone disorders, genes, phenotypic characteristics in human
Format OWL 2 RL
High-level classes defined Bone Disorder, Gene, Bone Disorder Group
Relationships defined associated_gene, associated_phenotype, mode_of_inheritance
Provenance entities defined ISDS, OMIM, Orphanet
Number of bone disorders 1,146
Number of bone disorder groups 51
Number of genes 383
Total number of classes 1,586
Total number of phenotypes reused 2,750
Dependencies HPO, SKOS, PROV-O
Annotations rdfs:label, skos:altLabel; uniprot_id; omim_id; provo:wasAttributedTo