| HPO |
HP:0002653 |
Bone pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." [] |
— |
HP:0011843, HP:0012531 |
| HPO |
HP:0003581 |
Adult onset |
"Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." [HPO:probinson] |
— |
HP:0003674 |
| 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:0003155 |
Elevated circulating alkaline phosphatase concentration |
"Abnormally increased serum levels of alkaline phosphatase activity." [HPO:probinson, PMID:29083622] |
— |
HP:0004379 |
| HPO |
HP:0000121 |
Nephrocalcinosis |
"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [HPO:probinson] |
Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. |
HP:0012210 |
| HPO |
HP:0001677 |
Coronary artery atherosclerosis |
"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [HPO:probinson] |
Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. |
HP:0002621, HP:0006704, HP:0100545 |
| HPO |
HP:0001712 |
Left ventricular hypertrophy |
"Enlargement or increased size of the heart left ventricle." [MP:0002625] |
— |
HP:0001711, HP:0001714 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| 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 |
| OMIM |
OMIM:616833 |
PAGET DISEASE OF BONE 6; PDB6 |
— |
— |
— |