- Hemangioblastoma (HP:0010797): A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:252054)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:252054)
- 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: Very frequent (HP:0040281). (ORPHA:252054)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:252054)
- Cerebellar hemangioblastoma (HP:0006880): A hemangioblastoma of the cerebellum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:252054)
- Retinal capillary hemangioma (HP:0009711): A benign vascular tumor of the retina without any neoplastic characteristics. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:252054)
- Intracranial cystic lesion (HP:0010576): A cystic lesion originating within the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:252054)
- Cerebellar edema (HP:0030915): Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:252054)
- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252054)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252054)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252054)
- Spinal hemangioblastoma (HP:0009713): A hemangioblastoma of the spinal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252054)
- Dysesthesia (HP:0012534): Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252054)
- Hypoactive bowel sounds (HP:0030144): An decreased amount of bowel sounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252054)
- Trigeminal neuralgia (HP:0100661): A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252054)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:252054)
These phenotypes are associated with the disease Hemangioblastoma (ORPHA:252054).