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Retinal capillary hemangioma
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HP_0009711 |
[A benign vascular tumor of the retina without any neoplastic characteristics.] |
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Hemangioblastoma
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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.] |
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obsolete Increased cholesterol esters
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HP_0500010 |
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Abnormal resting energy expenditure from metabolic cart test
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HP_0500019 |
[Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).] |
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Abnormal cardiac test
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HP_0500015 |
[Abnormal test result of cardiovascular physiology.] |
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Spinal hemangioblastoma
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HP_0009713 |
[A hemangioblastoma of the spinal cord.] |
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Papillary cystadenoma of the epididymis
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HP_0009715 |
[A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.] |
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Epididymal neoplasm
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HP_0030421 |
[A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.] |
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Subependymal nodules
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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.] |
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Cortical tubers
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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.] |
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Abnormal cardiac MRI
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HP_0500016 |
[Abnormal results of a MRI for the heart.] |
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Subependymal giant-cell astrocytoma
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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.] |
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Abnormal cardiac catheterization
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HP_0500017 |
[Abnormal results from the diagnostic tests resulting from cardiac catheterization.] |
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Hypomelanotic macule
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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.] |
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Hypopigmented macule
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HP_0020073 |
[A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.] |
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Abnormal cardiac exercise stress test
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HP_0500018 |
[Abnormal results of exercise on heart function.] |
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1-4 toe syndactyly
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HP_0010712 |
[Syndactyly with fusion of toes one to four.] |
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1-5 toe syndactyly
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HP_0010713 |
[Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).] |
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3-5 finger syndactyly
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HP_0010710 |
[A soft tissue continuity in the anteroposterior axis between the middle to little fingers that extends distally to at least the level of the proximal interphalangeal joints.] |
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1-2 toe syndactyly
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HP_0010711 |
[Syndactyly with fusion of toes one and two.] |