| HPO |
HP:0002749 |
Osteomalacia |
"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
— |
HP:0004349 |
| HPO |
HP:0002750 |
Delayed skeletal maturation |
"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| HPO |
HP:0002751 |
Kyphoscoliosis |
"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [HPO:probinson] |
— |
HP:0002650, HP:0002808 |
| HPO |
HP:0002752 |
Sparse bone trabeculae |
— |
— |
HP:0100671 |
| HPO |
HP:0002753 |
Thin bony cortex |
"Abnormal thinning of the cortical region of bones." [HPO:curators] |
— |
HP:0003103 |
| HPO |
HP:0002754 |
Osteomyelitis |
"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism." [HPO:probinson, PMID:15276398] |
Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. |
HP:0011843, HP:0012649 |
| HPO |
HP:0002755 |
obsolete Osteomyelitis due to immunodeficiency |
— |
— |
— |
| HPO |
HP:0002756 |
Pathologic fracture |
"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
— |
HP:0002659 |
| HPO |
HP:0002757 |
Recurrent fractures |
"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
This term will be made obsolete. The annotations need to be checked. |
HP:0002659 |
| HPO |
HP:0002758 |
Osteoarthritis |
"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity." [] |
— |
HP:0001369 |
| HPO |
HP:0002761 |
Generalized joint laxity |
"Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
— |
HP:0001388 |
| HPO |
HP:0002762 |
Multiple exostoses |
"Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson] |
— |
HP:0100777 |
| HPO |
HP:0002763 |
Abnormal cartilage morphology |
"Any morphological abnormality of cartilage." [HPO:probinson] |
— |
HP:0011842 |
| HPO |
HP:0002764 |
Stippled chondral calcification |
"Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints)." [HPO:probinson, PMID:29246349] |
See the figure in PMID:29246349 |
HP:0002832, HP:0100593 |
| HPO |
HP:0002766 |
Relatively short spine |
— |
— |
HP:0008518 |
| HPO |
HP:0002773 |
obsolete Small vertebral bodies |
— |
— |
— |
| HPO |
HP:0002777 |
Tracheal stenosis |
— |
— |
HP:0002778 |
| HPO |
HP:0002778 |
Abnormal tracheal morphology |
"A structural anomaly of the trachea." [HPO:probinson] |
— |
HP:0005607 |
| HPO |
HP:0002779 |
Tracheomalacia |
— |
— |
HP:0002778 |
| HPO |
HP:0002780 |
Bronchomalacia |
"Weakness or softness of the cartilage in the walls of the bronchial tubes." [PMID:15764786] |
— |
HP:0025426 |
| HPO |
HP:0002781 |
Upper airway obstruction |
"Increased resistance to the passage of air in the upper airway." [HPO:probinson] |
— |
HP:0006536 |
| HPO |
HP:0002783 |
Recurrent lower respiratory tract infections |
"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections." [HPO:probinson] |
— |
HP:0002205 |
| HPO |
HP:0002786 |
Tracheobronchomalacia |
"Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways." [HPO:probinson] |
— |
HP:0002779, HP:0002780 |
| HPO |
HP:0002787 |
Tracheal calcification |
"Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:probinson, PMID:18663210] |
— |
HP:0002778, HP:0010766 |
| HPO |
HP:0002788 |
Recurrent upper respiratory tract infections |
"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [HPO:probinson] |
— |
HP:0001739, HP:0002205 |