Phenotypes associated with the disease pheochromocytoma/paraganglioma syndrome 2 (OMIM:601650, an entry in Online Mendelian Inheritance in Man):
- Neoplasm (HP:0002664, a Human Phenotype Ontology term): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. (OMIM:601650)
- Cranial nerve paralysis (HP:0006824, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:601650)
- Glomus tympanicum paraganglioma (HP:0006715, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:601650)
- Pulsatile tinnitus (HP:0008629, a Human Phenotype Ontology term): Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Evidence: TAS. (OMIM:601650)
- Glomus jugular tumor (HP:0003001, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:601650)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: TAS. (OMIM:601650)
- Hoarse voice (HP:0001609, a Human Phenotype Ontology term): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. (OMIM:601650)
- Vocal cord paralysis (HP:0001605, a Human Phenotype Ontology term): A loss of the ability to move the vocal folds. Evidence: TAS. (OMIM:601650)
- Chemodectoma (HP:0030074, a Human Phenotype Ontology term): A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. Evidence: TAS. (OMIM:601650)
- Loss of voice (HP:0001686, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:601650)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:601650)
- Vagal paraganglioma (HP:0002886, a Human Phenotype Ontology term): A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. Evidence: TAS. (OMIM:601650)