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
|