| 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:0002654 |
Multiple epiphyseal dysplasia |
— |
— |
HP:0002652 |
| HPO |
HP:0002655 |
Spondyloepiphyseal dysplasia |
"A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [HPO:probinson] |
— |
HP:0002652 |
| HPO |
HP:0002656 |
Epiphyseal dysplasia |
— |
— |
HP:0002652, HP:0005930 |
| HPO |
HP:0002657 |
Spondylometaphyseal dysplasia |
— |
— |
HP:0002652 |
| HPO |
HP:0002659 |
Increased susceptibility to fractures |
"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
This is a bundled term that will be made obsolete. |
HP:0011843 |
| HPO |
HP:0002661 |
Painless fractures due to injury |
"An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators] |
— |
HP:0002659, HP:0010832 |
| HPO |
HP:0002663 |
Delayed epiphyseal ossification |
— |
— |
HP:0005930, HP:0010656 |
| HPO |
HP:0002664 |
Neoplasm |
"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)." [HPO:probinson] |
The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. |
HP:0000118 |
| HPO |
HP:0002665 |
Lymphoma |
"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:probinson] |
— |
HP:0004377 |
| HPO |
HP:0002666 |
Pheochromocytoma |
"Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:probinson] |
— |
HP:0100634 |
| HPO |
HP:0002667 |
Nephroblastoma |
"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [HPO:probinson] |
Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. |
HP:0011794 |
| HPO |
HP:0002668 |
Paraganglioma |
"A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:probinson] |
— |
HP:0100634 |
| HPO |
HP:0002669 |
Osteosarcoma |
"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor." [HPO:probinson] |
— |
HP:0010622, HP:0100242 |
| HPO |
HP:0002671 |
Basal cell carcinoma |
"The presence of a basal cell carcinoma of the skin." [HPO:sdoelken] |
A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life. |
HP:0008069 |
| HPO |
HP:0002672 |
Gastrointestinal carcinoma |
— |
— |
HP:0006749 |
| HPO |
HP:0002673 |
Coxa valga |
"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:probinson] |
— |
HP:0003367 |
| HPO |
HP:0002676 |
Cloverleaf skull |
"Trilobar skull configuration when viewed from the front or behind." [PMID:19125436] |
A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. |
HP:0002648 |
| HPO |
HP:0002677 |
Small foramen magnum |
"An abnormal narrowing of the foramen magnum." [HPO:probinson] |
The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. |
HP:0002699 |
| HPO |
HP:0002678 |
Skull asymmetry |
— |
— |
HP:0002648 |
| HPO |
HP:0002679 |
Abnormal sella turcica morphology |
"Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:probinson] |
— |
HP:0000929 |
| HPO |
HP:0002680 |
J-shaped sella turcica |
"A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:pnrobinson] |
— |
HP:0002681 |
| HPO |
HP:0002681 |
Deformed sella turcica |
— |
— |
HP:0002679 |
| HPO |
HP:0002682 |
Broad skull |
"Increased width of the skull." [HPO:probinson] |
— |
HP:0002648 |
| HPO |
HP:0002683 |
Abnormality of the calvaria |
"Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." [HPO:probinson] |
The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. |
HP:0000929 |