All terms in HP
Label | Id | Description |
---|---|---|
Open angle glaucoma | HP_0012108 | [A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,] |
Increased fibular diameter | HP_0012107 | [Increased width of the cross sectional diameter of the fibula.] |
Broad long bones | HP_0005622 | [Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.] |
Abnormality of fibula morphology | HP_0002991 | [An anomaly of the calf bone (fibula), one of the two bones of the calf.] |
Abnormal mitochondrial number | HP_0012102 | [A deviation from the normal number of mitochondria per cell.] |
Abnormal mitochondrial morphology | HP_0008322 | [Any structural anomaly of the mitochondria.] |
Decreased serum creatinine | HP_0012101 | [An abnormally reduced amount of creatinine in the blood.] |
Abnormal circulating creatinine level | HP_0012100 | [An abnormal concentration of creatinine in the blood.] |
Abnormal circulating nitrogen compound concentration | HP_0004364 | [Any deviation from the normal concentration of a nitrogen compound in the blood circulation.] |
Rhizomelic leg shortening | HP_0012106 | [Disproportionate shortening of the proximal segment of the leg (i.e. the femur).] |
Occipital cortical atrophy | HP_0012105 | [Atrophy of the occipital cortex.] |
Cerebral cortical atrophy | HP_0002120 | [Atrophy of the cortex of the cerebrum.] |
Parietal cortical atrophy | HP_0012104 | [Atrophy of the parietal cortex.] |
N-acetylneuraminates | CHEBI_21619 | |
Abnormality of the mitochondrion | HP_0012103 | [An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.] |
Renal potassium wasting | HP_0000128 | [High urine potassium in the presence of hypokalemia.] |
Abnormal urine potassium concentration | HP_0012598 | [An abnormal concentration of potassium(1+) in the urine.] |
Cluster headache | HP_0012199 | [A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.] |
Juvenile colonic polyposis | HP_0012198 | [The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.] |
Hamartomatous polyposis | HP_0004390 | [Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.] |