| HP:0000083 | Renal failure | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000433 | Abnormality of the nasal mucosa | |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000554 | Uveitis | "Inflammation of one or all portions of the uveal tract." [HPO:curators] |
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| HP:0000618 | Blindness | |
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| HP:0000620 | Dacrocystitis | |
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| HP:0000787 | Kidney stones | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000834 | Abnormality of the adrenal glands | "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [HPO:curators] |
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| HP:0000836 | Hyperthyroidism | "Hyperthyroidism refers to excessive secretion of thyroid hormone." [HPO:curators] |
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| HP:0000873 | Diabetes insipidus | "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0001010 | Hypopigmentation of the skin | |
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| HP:0001097 | Keratoconjunctivitis sicca | "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators] |
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| HP:0001386 | Joint swelling | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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| HP:0001882 | Leukopenia | |
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| HP:0001945 | Fever | |
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| HP:0001970 | Tubulointerstitial nephritis | |
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| HP:0002045 | Hypothermia | |
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| HP:0002094 | Dyspnea | |
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| HP:0002097 | Emphysema | |
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| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
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| HP:0002107 | Pneumothorax | |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0004756 | Ventricular tachycardia | |
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| HP:0007734 | Enlarged lacrimal glands | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0010310 | Chylothorax | "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0011024 | Abnormality of the gastrointestinal tract | "An abnormality of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] |
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| HP:0011801 | Enlargement of parotid gland | "Increased size of the parotid gland." [DDD:jclayton-smith] |
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| HP:0011850 | Parotitis | "Inflammation of the parotid gland." [HPO:probinson] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0012219 | Erythema nodosum | "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [HPO:probinson] |
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| HP:0012243 | Abnormal genital system morphology | "A structural or developmental anomaly of any of the tissues involved in the genital system." [HPO:probinson, MP:0002160] |
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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:0012722 | Heart block | "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [HPO:probinson] |
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| HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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| HP:0030146 | Abnormal liver parenchyma morphology | |
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| HP:0030872 | Abnormal cardiac ventricular function | "An abnormality of the cardiac ventricular function." [NIHR:ldaugherty] |
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| HP:0040186 | Maculopapular exanthema | |
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| HP:0100699 | Scarring | |
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| HP:0100749 | Chest pain | |
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| HP:0100828 | Increase in T cell number | |
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| HP:0200035 | skin plaques | "A broad papule, or confluence of papules equal to or greater than 10 mm. Has also been defined as an elevated, plateau-like lesion that is greater in its diameter than in its depth." [HPO:SKOEHLER] |
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