| HPO |
HP:0012323 |
Sleep myoclonus |
"Myoclonus that occurs during the initial phases of sleep." [HPO:probinson] |
— |
HP:0001336 |
| HPO |
HP:0012324 |
Myeloid leukemia |
"A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow." [HPO:probinson] |
— |
HP:0001909 |
| HPO |
HP:0012325 |
Chronic myelomonocytic leukemia |
"A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178] |
— |
HP:0012324 |
| HPO |
HP:0012326 |
Abnormal celiac artery morphology |
"An anomaly of the celiac artery." [HPO:probinson] |
The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta. |
HP:0011004 |
| HPO |
HP:0012327 |
Celiac artery compression |
"Compression of the celiac artery." [HPO:probinson] |
This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament. |
HP:0012326 |
| HPO |
HP:0012328 |
Cementoma |
"An odontogenic tumor of the cementum of tooth." [HPO:probinson] |
— |
HP:0100612 |
| HPO |
HP:0012329 |
Tufted angioma |
"A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation." [HPO:probinson, PMID:2644316] |
— |
HP:0001028 |
| HPO |
HP:0012330 |
Pyelonephritis |
"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices." [HPO:probinson] |
Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. |
HP:0000123 |
| HPO |
HP:0012331 |
Abnormal autonomic nervous system morphology |
"A structural abnormality of the autonomic nervous system." [HPO:probinson] |
— |
HP:0002270 |
| HPO |
HP:0012332 |
Abnormal autonomic nervous system physiology |
"A functional abnormality of the autonomic nervous system." [HPO:probinson] |
— |
HP:0002270 |
| HPO |
HP:0012333 |
Abnormal sudomotor regulation |
"An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration." [HPO:probinson] |
Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system. |
HP:0012332 |
| HPO |
HP:0012334 |
Extrahepatic cholestasis |
"Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson] |
— |
HP:0001396 |
| HPO |
HP:0012335 |
Abnormality of folate metabolism |
"An abnormality of the metabolism of folic acid, which is also known as vitamin B9." [HPO:probinson] |
— |
HP:0004340 |
| HPO |
HP:0012336 |
obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration |
— |
— |
— |
| HPO |
HP:0012337 |
Abnormal homeostasis |
"An anomaly in the processes involved in the maintenance of an internal equilibrium." [HPO:probinson] |
— |
HP:0001939 |
| HPO |
HP:0012338 |
Abnormal energy expenditure |
"Any anomaly in the utilization of energy (calories)." [HPO:probinson] |
— |
HP:0012337 |
| HPO |
HP:0012339 |
Increased resting energy expenditure |
"An increase in the number of calories used per unit time." [HPO:probinson] |
— |
HP:0012338 |
| HPO |
HP:0012340 |
Decreased resting energy expenditure |
"A reduction in the number of calories used per unit time." [HPO:probinson] |
— |
HP:0012338 |
| HPO |
HP:0012341 |
Microprolactinoma |
"A pituitary prolactin cell adenoma of less than 10 mm diameter." [HPO:probinson] |
— |
HP:0006767 |
| HPO |
HP:0012342 |
Macroprolactinoma |
"A pituitary prolactin cell adenoma of more than 10 mm diameter." [HPO:probinson] |
— |
HP:0006767 |
| HPO |
HP:0012343 |
Decreased circulating ferritin concentration |
"Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson] |
Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. |
HP:0040133 |
| HPO |
HP:0012344 |
Morphea |
"Isolated patches of hardened skin (scleroderma)." [HPO:probinson] |
— |
HP:0001072 |
| HPO |
HP:0012345 |
Abnormal glycosylation |
"An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [HPO:probinson] |
— |
HP:0032245 |
| HPO |
HP:0012346 |
Abnormal protein glycosylation |
"An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." [HPO:probinson] |
— |
HP:0012345 |
| HPO |
HP:0012347 |
Abnormal protein N-linked glycosylation |
"An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [HPO:probinson, PMID:22516080] |
Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling. |
HP:0012346 |