Table 1

Relations defined in the Bone Dysplasia ontology

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


Groza et al. BMC Bioinformatics 2012 13:50   doi:10.1186/1471-2105-13-50

Open Data