| 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:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000134 | Hypogonadism, female | "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators] |
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| HP:0000141 | Amenorrhea | |
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| HP:0000364 | Hearing abnormality | |
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| HP:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000618 | Blindness | |
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| HP:0000651 | Diplopia | "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators] |
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| HP:0000739 | Anxiety | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000802 | Impotence | |
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| HP:0000820 | Abnormality of the thyroid gland | |
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| HP:0000823 | Delayed puberty | |
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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:0000868 | Decreased fertility in females | |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000980 | Pallor | |
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| HP:0001031 | Subcutaneous lipomas | |
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| HP:0001117 | Sudden central visual loss | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001254 | Lethargy | |
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| HP:0001259 | Coma | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001958 | Nonketotic hypoglycemia | |
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| HP:0001962 | Palpitations | |
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| HP:0001988 | Recurrent hypoglycemic episodes | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002044 | Zollinger-Ellison syndrome | |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002494 | Abnormal rapid eye movement (REM) sleep | "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements." [HPO:curators] |
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| HP:0002574 | Episodic abdominal pain | |
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| HP:0002591 | Polyphagia | |
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| HP:0002615 | Hypotension | |
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| HP:0002893 | Pituitary adenoma | |
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| HP:0002897 | Parathyroid adenoma | |
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| HP:0002920 | Decreased serum ACTH | |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [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:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003388 | Easy fatigability | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0004324 | Increased body weight | |
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| HP:0004398 | Peptic ulcer | |
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| HP:0006476 | Abnormality of the pancreatic islet cells | "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucogon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [HPO:curators] |
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| HP:0006744 | Adrenocortical carcinoma | |
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| HP:0006767 | Prolactin-secreting pituitary adenoma | |
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| HP:0006897 | Cranial nerve VI palsy | |
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| HP:0007011 | Fourth cranial nerve palsy | |
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| HP:0007159 | Fluctuations in consciousness | |
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| HP:0007449 | Confetti-like hypopigmented macules | |
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| HP:0007942 | Internal ophthalmoplegia | |
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| HP:0008200 | Primary hyperparathyroidism | |
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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:0008240 | Secondary growth hormone deficiency | |
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| HP:0008245 | Tsh deficient hypothyroidism | |
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| HP:0008250 | Infantile hypercalcemia | |
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| HP:0008256 | Adrenocortical adenoma | "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] |
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| HP:0008261 | Pancreatic islet cell adenoma | |
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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:0009720 | Adenoma sebaceum | "Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis." [HPO:curators] |
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| HP:0010534 | Transient global amnesia | "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information." [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:0010832 | Abnormality of pain sensation | "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain." [HPO:probinson] |
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| HP:0011357 | Abnormality of hair density | "An abnormality of the density of hair growth." [DDD:cmoss] |
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| HP:0011458 | Abdominal symptom | |
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| HP:0011735 | Adrenocorticotropin (ACTH) deficient adrenal insufficiency | "Adrenal insufficiency secondary to a defect in ACTH production." [DDD:spark] |
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| HP:0011748 | Adrenocorticotropic hormone deficiency | "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark] |
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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:0012041 | Decreased fertility in males | |
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| HP:0012051 | Reactive hypoglycemia | "Hypoglycermia following a meal (or more generally, after intake of glucose)." [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:0012246 | Oculomotor nerve palsy | "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [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:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0030016 | Dyspareunia | "Recurrent or persistent genital pain associated with sexual intercourse." [] |
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| HP:0030018 | Decreased female libido | "Dminished sexual desire in female." [] |
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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:0030521 | Bitemporal hemianopia | |
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| HP:0030688 | Increased glucagon level | "An elevated concentration of glucagon in the blood circulation." [] |
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| HP:0040160 | Generalized osteoporosis | |
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| HP:0040278 | Prolactinoma | "A benign tumor (adenoma) of the pituitary gland" [] |
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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:0100631 | Adrenal neoplasia | |
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| HP:0100633 | Esophagitis | |
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| HP:0100634 | Neuroendocrine neoplasia | |
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| HP:0100785 | Insomnia | |
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| HP:0100829 | Galactorrhoea | "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing." [HPO:sdoelken] |
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