All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal cardiac test | HP_0500015 | [Abnormal test result of cardiovascular physiology.] |
| Spinal hemangioblastoma | HP_0009713 | [A hemangioblastoma of the spinal cord.] |
| Papillary cystadenoma of the epididymis | HP_0009715 | [A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.] |
| Epididymal neoplasm | HP_0030421 | [A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.] |
| Subependymal nodules | HP_0009716 | [Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter.] |
| Cortical tubers | HP_0009717 | [Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.] |
| Abnormal cardiac MRI | HP_0500016 | [Abnormal results of a MRI for the heart.] |
| Subependymal giant-cell astrocytoma | HP_0009718 | [A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.] |
| Abnormal cardiac catheterization | HP_0500017 | [Abnormal results from the diagnostic tests resulting from cardiac catheterization.] |
| Hypomelanotic macule | HP_0009719 | [Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.] |
| Hypopigmented macule | HP_0020073 | [A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.] |
| Abnormal cardiac exercise stress test | HP_0500018 | [Abnormal results of exercise on heart function.] |
| 1-4 toe syndactyly | HP_0010712 | [Syndactyly with fusion of toes one to four.] |
| 1-3 toe syndactyly | HP_0001459 | [Syndactyly with fusion of toes one to three.] |
| 2-4 toe syndactyly | HP_0010714 | [Syndactyly with fusion of toes two to four.] |
| 1-5 toe syndactyly | HP_0010713 | [Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).] |
| 2-5 toe syndactyly | HP_0010715 | [Syndactyly with fusion of toes two to five.] |
| 1-2 toe syndactyly | HP_0010711 | [Syndactyly with fusion of toes one and two.] |
| 3-5 toe syndactyly | HP_0010716 | [Syndactyly with fusion of toes three to five.] |
| 4-5 toe syndactyly | HP_0004692 | [Syndactyly with fusion of toes four and five.] |