| HPO |
HP:0011844 |
Abnormal appendicular skeleton morphology |
"An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles." [HPO:probinson] |
— |
HP:0011842 |
| HPO |
HP:0011845 |
Short second metatarsal |
"Short (hypoplastic) second metatarsal bone." [HPO:probinson] |
— |
HP:0010743, HP:0040034 |
| HPO |
HP:0011846 |
Osteoblastoma |
"A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue." [HPO:probinson] |
— |
HP:0010622 |
| HPO |
HP:0011847 |
Giant cell tumor of bone |
"A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts." [HPO:probinson] |
— |
HP:0010622 |
| HPO |
HP:0011848 |
Abdominal colic |
"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity." [] |
Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. |
HP:0002027 |
| HPO |
HP:0011849 |
Abnormal bone ossification |
"Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." [HPO:probinson, PMID:18157903] |
All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. |
HP:0003330 |
| HPO |
HP:0011850 |
Parotitis |
"Inflammation of the parotid gland." [HPO:probinson] |
— |
HP:0000197 |
| HPO |
HP:0011851 |
Hemopericardium |
"Accumulation of blood within the pericardial sac." [HPO:probinson, PMID:10882282] |
— |
HP:0001698 |
| HPO |
HP:0011852 |
Chylopericardium |
"Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct." [HPO:probinson] |
— |
HP:0001698 |
| HPO |
HP:0011853 |
Serous pericardial effusion |
"Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac." [HPO:probinson] |
— |
HP:0001698 |
| HPO |
HP:0011854 |
Hemoperitoneum |
"Accumulation of blood in the peritoneal cavity owing to internal hemorrhage." [HPO:probinson] |
— |
HP:0002585 |
| HPO |
HP:0011855 |
Pharyngeal edema |
"Abnormal accumulation of fluid leading to swelling of the pharynx." [HPO:probinson] |
— |
HP:0000969, HP:0033151 |
| HPO |
HP:0011856 |
Pica |
"An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month." [HPO:probinson] |
— |
HP:0100738 |
| HPO |
HP:0011857 |
Plasmacytoma |
"A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location." [HPO:probinson] |
Plasmacytoma often generalizes to multiple myeloma over the course of several years. |
HP:0004377 |
| HPO |
HP:0011858 |
Reduced factor IX activity |
"Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [HPO:probinson] |
Severe deficiency of factor IX underlies hemophilia B. |
HP:0033062 |
| HPO |
HP:0011859 |
Punctate keratitis |
"A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium." [HPO:probinson] |
— |
HP:0000491 |
| HPO |
HP:0011860 |
Metaphyseal dappling |
"The presence of spots or rounded patches of abnormally increased density of metaphyseal bone." [HPO:probinson] |
This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia. |
HP:0004979 |
| HPO |
HP:0011861 |
Bilateral trilobed lungs |
"Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes." [HPO:probinson] |
— |
HP:0002101 |
| HPO |
HP:0011862 |
Abnormal bone collagen fibril morphology |
"Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity." [HPO:probinson, MP:0011642] |
— |
HP:0003330 |
| HPO |
HP:0011863 |
Abnormal sternal ossification |
"Any anomaly in the formation of the bony substance of the sternum." [HPO:probinson] |
The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. |
HP:0000766, HP:0003336 |
| HPO |
HP:0011864 |
Elevated plasma pyrophosphate |
"An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson] |
— |
HP:0100529 |
| HPO |
HP:0011867 |
Abnormal iliac wing morphology |
"An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally." [HPO:probinson] |
— |
HP:0002867 |
| HPO |
HP:0011868 |
Sciatica |
"Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [HPO:probinson, PMID:17872935] |
— |
HP:0003418 |
| HPO |
HP:0011869 |
Abnormal platelet function |
"Any anomaly in the function of thrombocytes." [HPO:probinson] |
— |
HP:0001872 |
| HPO |
HP:0011870 |
Impaired arachidonic acid-induced platelet aggregation |
"Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." [DDD:wouwehand] |
— |
HP:0003540 |