All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal erythrocyte sedimentation rate | HP_0025021 | [A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.] |
| Rectal atresia | HP_0025023 | [A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.] |
| Elevated prostate-specific antigen level | HP_0025020 | [An increased concentration of prostate specific antigen (PSA) in the circulation.] |
| Angiokeratoma corporis diffusum | HP_0001071 | |
| guaiacols | CHEBI_134251 | [Any phenol carrying an additional methoxy substituent at the ortho-position.] |
| (3,4-dihydroxyphenyl)acetic acid | CHEBI_41941 | [A dihydroxyphenylacetic acid having the two hydroxy substituents located at the 3- and 4-positions. It is a metabolite of dopamine.] |
| Abnormality of olfactory lobe morphology | HP_0025057 | [A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.] |
| Hypothalamic atrophy | HP_0025058 | |
| Brushfield spots | HP_0001088 | [The presence of whitish spots in a ring-like arrangement at the periphery of the iris.] |
| Iris atrophy | HP_0001089 | [Loss of iris tissue (atrophy)] |
| Reduced brain creatine level by MRS | HP_0025051 | [A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).] |
| Abnormal brain creatine level by MRS | HP_0025049 | |
| Corneal arcus | HP_0001084 | [A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.] |
| Peripheral opacification of the cornea | HP_0008011 | [Reduced transparency of the peripheral region of the cornea.] |
| Papilledema | HP_0001085 | [Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.] |
| Elevated brain creatine level by MRS | HP_0025050 | [An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).] |
| Cholelithiasis | HP_0001081 | [Hard, pebble-like deposits that form within the gallbladder.] |
| Elevated brain N-acetyl aspartate level by MRS | HP_0025053 | [An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).] |
| Cholecystitis | HP_0001082 | [The presence of inflammatory changes in the gallbladder.] |
| Reduced brain choline level by MRS | HP_0025048 | [An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).] |