- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:892)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:892)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:892)
- Adrenal pheochromocytoma (HP:0006748): Pheochromocytoma originating from the adrenal medulla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:892)
- Cerebellar hemangioblastoma (HP:0006880): A hemangioblastoma of the cerebellum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:892)
- Retinal capillary hemangioma (HP:0009711): A benign vascular tumor of the retina without any neoplastic characteristics. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:892)
- Elevated urinary catecholamine level (HP:0011976): The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:892)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Papilledema (HP:0001085): Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Elevated circulating catecholamine level (HP:0003334): An abnormal increase in catecholamine concentration in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Abnormal left ventricular function (HP:0005162): Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Pancreatic islet cell adenoma (HP:0008261): The presence of an adenoma of the pancreas with origin in a pancreatic B cell. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Papillary cystadenoma of the epididymis (HP:0009715): A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Endolymphatic sac tumor (HP:0030393): A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Pancreatic endocrine tumor (HP:0030405): A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Macular edema (HP:0040049): Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:892)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
- Paraganglioma (HP:0002668): A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
- Epididymal cyst (HP:0030424): A smooth, extratesticular, spherical cyst in the head of the epididymis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:892)
These phenotypes are associated with the disease Von Hippel-Lindau disease (ORPHA:892).