|
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:0080006
|
bone development disease
|
A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. |
|
DOID:11971
|
synostosis
|
A dysostosis that results_in abnormal fusing of adjacent bones. |
|
DOID:2340
|
craniosynostosis
|
A synostosis that results_in premature fusion located_in skull. |
|
DOID:1934
|
dysostosis
|
A bone development disease that results in defective ossification of bone. |
|
DOID:2339
|
Crouzon syndrome
|
A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. |
