DOID:7
|
disease of anatomical entity
|
A disease that manifests in a defined anatomical structure. |
DOID:4
|
disease
|
A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
DOID:17
|
musculoskeletal system disease
|
A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
DOID:0080001
|
bone disease
|
A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
DOID:65
|
connective tissue disease
|
A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
DOID:0080015
|
physical disorder
|
A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
DOID:0080006
|
bone development disease
|
A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
DOID:2256
|
osteochondrodysplasia
|
A bone development disease that results_in defective development of cartilage or bone. |
DOID:1222
|
cartilage disease
|
A connective tissue disease that is located_in cartilage. |
DOID:0050813
|
spondyloepiphyseal dysplasia with congenital joint dislocations
|
A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. |
DOID:0112280
|
spondyloepiphyseal dysplasia
|
An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. |