| HP:0000083 | Renal failure | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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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:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [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:0000670 | Carious teeth | |
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| HP:0000738 | Hallucinations | |
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| HP:0000787 | Kidney stones | |
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| HP:0000819 | Diabetes mellitus | |
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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:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0000988 | Skin rash | |
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| HP:0001004 | Lymphedema | |
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| HP:0001010 | Hypopigmentation of the skin | |
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| HP:0001025 | Urticaria | |
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| HP:0001053 | Hypopigmented skin patches | |
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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:0001262 | Somnolence | |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001287 | Meningitis | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001350 | Slurred speech | |
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| HP:0001369 | Arthritis | |
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| HP:0001371 | Contractures | |
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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:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001701 | Pericarditis | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [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:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002024 | Malabsorption | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002045 | Hypothermia | |
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| HP:0002092 | Pulmonary hypertension | |
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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:0002113 | Pulmonary infiltrates | |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002189 | Excessive daytime sleepiness | |
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| HP:0002202 | Pleural effusion | "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators] |
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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: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:0002524 | Cataplexy | |
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| HP:0002585 | Abnormality of the peritoneum | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002719 | Recurrent infections | |
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| HP:0002781 | Upper airway obstruction | |
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| HP:0002797 | Osteolysis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003565 | Elevated erythrocyte sedimentation rate | |
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| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
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| HP:0003765 | Psoriasis | |
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| HP:0004756 | Ventricular tachycardia | |
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| HP:0005681 | Rheumatoid arthritis, juvenile | |
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| HP:0007734 | Enlarged lacrimal glands | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008366 | Contractures involving the joints of the feet | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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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: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: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: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:0011024 | Abnormality of the gastrointestinal tract | "An abnormality of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] |
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| HP:0011227 | Elevated C-reactive protein level | "An abnormal elevation of the C-reactive protein level in serum." [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:0012122 | Anterior uveitis | "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber." [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:0012733 | Macule | "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [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:0030016 | Dyspareunia | "Recurrent or persistent genital pain associated with sexual intercourse." [] |
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| HP:0030142 | Abnormal bowel sounds | "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis." [] |
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| HP:0030146 | Abnormal liver parenchyma morphology | |
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| HP:0030166 | Night sweats | "Occurence of excessive sweating during sleep." [HPO:probinson, pmid:23136329] |
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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:0100520 | Oliguria | "Low output of urine, clinically classified as an output below 300-500ml/day." [HPO:sdoelken] |
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| HP:0100579 | Mucosal telangiectasiae | "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100699 | Scarring | |
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| HP:0100721 | Mediastinal lymphadenopathy | |
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| HP:0100735 | Hypertensive crisis | |
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| HP:0100749 | Chest pain | |
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| HP:0100785 | Insomnia | |
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| HP:0100828 | Increase in T cell number | |
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| HP:0100958 | Narrow foramen obturatorium | |
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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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| HP:0200036 | skin nodules | "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:SKOEHLER] |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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