Table 1 The rare bone disorder ontology fact sheet
From: Capturing domain knowledge from multiple sources: the rare bone disorders use case
Namespace | |
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 |
Availability |