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Table 1 Relations defined in the Bone Dysplasia ontology

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

Relation Domain Range
characterized_by Bone Dysplasia Phenotypic Composite, Gene Mutation
   HP:HP_0000118 (Phenotypic abnormality)
mode_of_inheritance Bone Dysplasia HP: HP_0000005 (Mode of inheritance)
has_locus Gene Mutation Gene
mutation_type Gene Mutation NCI:Mutation Abnormality
is_encoded_by Protein Gene
describes Phenotypic Composite Anatomical Composite, FMA:Anatomical_Entity
has_quality Phenotypic Composite Quality Composite,
   PATO:PATO_0001241(Physical object quality)
has_qualifier Quality Composite PATO:PATO_0000068(Qualitative),
   PATO:PATO_0001241(Physical object quality)
has_anatomical_coordinate Anatomical Composite FMA:Primary_anatomical_coordinate,
   FMA:Secondary_anatomical_coordinate