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 |