All terms in HP

Label Id Description
Abnormal 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 [Partial or complete wasting (loss) of hypothalamus tissue that was once present.]
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).]
Type III radial ray deficiency HP_0025055 [A type of radial ray deficiency characterized by partial absence of the radius. The radius is partially absent. The defect can be in the proximal, middle, or distal third. All have been reported , but the most frequent is the absence of the distal one or two thirds. The hand is radially displaced . The ulna is thickened, shortened , and bowed radially, and the wrist is unsupported.]
Type IV radial ray deficiency HP_0025056 [A type of radial ray deficiency characterized by total absence of the radius. This represents the most common type of radial deficiency. The hand is unsupported and is usually severely radially displaced.]
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.]
Type II radial ray deficiency HP_0025054 [A type of radial ray deficiency characterized by a hypoplastic radius. The radius has both proximal and distal epiphyses but growth is defective in both. This type is essentially a radius in miniature. Growth of the radius proceeds at a decreased rate.]
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).]
Reduced brain lactate level by MRS HP_0025046 [A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).]
Atrophic fundus lesion HP_0001099 [Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy.]
Hypertensive retinopathy HP_0001095 [Condition of the retina, secondary to severe systemic arterial hypertension which can be acute or longstanding. Features include one or several of the following: retinal vascular tortuosity, arteriovenous crossing signs, retinal cotton wool spot and intraretinal hemorrhages. It can be associated with optic disc swelling.]