| HP:0000006 | Autosomal dominant inheritance | "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." [HPO:curators] |
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| HP:0000079 | Abnormality of the urinary tract | |
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| HP:0000825 | Hyperinsulinemic hypoglycemia | |
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| HP:0000843 | Hyperparathyroidism | |
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| HP:0000845 | Acromegaly | "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators] |
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| HP:0000854 | Thyroid adenoma | |
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| HP:0001031 | Subcutaneous lipomas | |
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| HP:0002014 | Diarrhea | |
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| HP:0002044 | Zollinger-Ellison syndrome | |
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| HP:0002574 | Episodic abdominal pain | |
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| HP:0002893 | Pituitary adenoma | |
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| HP:0002897 | Parathyroid adenoma | |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003118 | Increased serum cortisol | |
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| HP:0003165 | Elevated serum parathyroid hormone (PTH) level | |
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| HP:0004398 | Peptic ulcer | |
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| HP:0006744 | Adrenocortical carcinoma | |
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| HP:0006767 | Prolactin-secreting pituitary adenoma | |
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| HP:0006772 | Multiple bilateral renal angiomyolipoma | "Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [HPO:curators] |
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| HP:0006780 | Parathyroid carcinoma | |
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| HP:0007449 | Confetti-like hypopigmented macules | |
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| HP:0008208 | Parathyroid hyperplasia | "An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of all four parathyroid glands." [HPO:curators] |
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| HP:0008256 | Adrenocortical adenoma | "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] |
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| HP:0008283 | Hyperinsulinemia, fasting | |
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| HP:0008291 | ACTH-producing pituitary microadenomas | "Presence of microadenomas that produce adrenocorticotropic hormone (ACTH) in the pituitary gland." [HPO:curators] |
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| HP:0010615 | Angiofibromas | "Angiofibroma consist of many often dilated vessels." [HPO:curators] |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0010788 | Testicular neoplasia | |
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| HP:0011760 | Pituitary growth hormone cell adenoma | "A type of pituitary adenoma that produces grwoth hormone." [DDD:spark] |
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| HP:0011761 | Pituitary null cell adenoma | "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [DDD:spark] |
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| HP:0012030 | Increased urinary cortisol level | "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." [HPO:probinson] |
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| HP:0012197 | Insulinoma | "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [HPO:probinson] |
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| HP:0012334 | Extrahepatic cholestasis | "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson] |
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| HP:0030079 | Cervix cancer | "A tumor of the uterine cervix." [] |
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| HP:0030404 | Glucagonoma | "An endocrine tumor of the pancreas that secretes excessive amounts of glucagon." [HPO:probinson] |
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| HP:0030445 | Pulmonary carcinoid tumor | "A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma." [HPO:probinson, pmid:21043816, pmid:24179657] |
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| HP:0030688 | Increased glucagon level | "An elevated concentration of glucagon in the blood circulation." [] |
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| HP:0100522 | Thymoma | "A tumor originating from the epithelial cells of the `thymus` (FMA:9607)." [HPO:sdoelken] |
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| HP:0100570 | Carcinoid | "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin." [HPO:sdoelkens] |
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| HP:0100633 | Esophagitis | |
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