- Uterine leiomyoma (HP:0000131): The presence of a leiomyoma of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:523)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:523)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:523)
- Uterine leiomyosarcoma (HP:0002891): The presence of a leiomyosarcoma of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:523)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:523)
- Papillary renal cell carcinoma type 2 (HP:0006732): A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:523)
- Multiple cutaneous leiomyomas (HP:0007437): The presence of multiple leiomyomas of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:523)
- Cutaneous leiomyoma (HP:0007620): The presence of leiomyoma of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:523)
- Barrett esophagus (HP:0100580): An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:523)
- Vaginal neoplasm (HP:0100650): A tumor (abnormal growth of tissue) of the vagina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:523)
- Esophageal neoplasm (HP:0100751): A tumor (abnormal growth of tissue) of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:523)
These phenotypes are associated with the disease Hereditary leiomyomatosis and renal cell cancer (ORPHA:523).