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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
mucopolysaccharidosis VI
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arylsulfatase B deficiency; deficiency of N-acetyl..
[+]
arylsulfatase B deficiency; deficiency of N-acetylgalactosamine-4-sulfatase (disorder); Maroteaux - Lamy syndrome; Maroteaux-Lamy syndrome; MPS VI - Maroteaux-Lamy syndrome; deficiency of N-acetylgalactosamine-4-sulfatase
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A mucopolysaccharidosis characterized by a deficie.. [+]
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
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Guillain-Barre syndrome
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acute postinfectious polyneuropathy; acute inflamm..
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acute postinfectious polyneuropathy; acute inflammatory demyelinating polyradiculopathy; acute infective polyneuritis; Infectious neuronitis; Postinfectious polyneuritis; Post-infectious polyneuritis
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An autoimmune disease of peripheral nervous system.. [+]
An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
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endomyocardial fibrosis
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African endomyocardial fibrosis; (Becker's disease..
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African endomyocardial fibrosis; (Becker's disease) or (obscure African cardiomyopathy); Becker's disease; Obscure African cardiomyopathy (disorder); Endomyocardial sclerosis; obscure African cardiomyopathy; Obscure African cardiomyopathy
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n_a
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hemangioma of subcutaneous tissue
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Angioma of the Subcutaneous tissue; hemangioma of ..
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Angioma of the Subcutaneous tissue; hemangioma of subcutaneous tissue (disorder); Subcutaneous hemangioma (disorder); Subcutaneous hemangioma; Subcutaneous haemangioma
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n_a
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Lown-Ganong-Levine syndrome
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atrial tachyarrhythmia with short PR interval; syn..
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atrial tachyarrhythmia with short PR interval; syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias
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A syndrome that involves pre-excitation of the ven.. [+]
A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles.
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branch retinal artery occlusion
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Arterial retinal branch occlusion; Arterial retina..
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Arterial retinal branch occlusion; Arterial retinal branch occlusion (disorder); Retinal Arterial Branch Occlusion; Retinal arterial branch occlusion; retinal arterial branch occlusion
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n_a
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protein-deficiency anemia
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Anemia due to protein deficiency; Anemia due to pr..
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Anemia due to protein deficiency; Anemia due to protein deficiency (disorder); Protein-deficiency anemia (disorder); Protein-deficiency anemia NOS (disorder); Protein-deficiency anaemia; protein-deficiency anaemia; Protein-deficiency anemia; deficiency anemia
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A nutritional deficiency disease that is character.. [+]
A nutritional deficiency disease that is characterized by inadequate protein intake.
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severe pre-eclampsia
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antepartum severe pre-eclampsia; postpartum severe..
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antepartum severe pre-eclampsia; postpartum severe pre-eclampsia; severe preeclampsia; Severe pre-eclampsia, with delivery
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A pre-eclampsia that has_symptom at least one of t.. [+]
A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.
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gout
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Articular gout; gouty arthritis; Gouty arthropathy..
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Articular gout; gouty arthritis; Gouty arthropathy
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An arthritis that has_material_basis_in uric acid .. [+]
An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
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4 articles
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Behcet's disease
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Adamantiades-Behcet disease; Behcet syndrome; Behc..
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Adamantiades-Behcet disease; Behcet syndrome; Behcet's syndrome; Behet's syndrome; triple symptom complex
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A vasculitis that is characterized by an autoimmun.. [+]
A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
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mucocele of appendix
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Appendicele Mucocele; Mucocele of appendix (disord..
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Appendicele Mucocele; Mucocele of appendix (disorder)
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n_a
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Kawasaki disease
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acute febrile MCLS; acute febrile mucocutaneous ly..
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acute febrile MCLS; acute febrile mucocutaneous lymph node syndrome; acute febrile mucocutaneous lymph node syndrome [MCLS]; MLNS; mucocutaneous lymph node syndrome; Kawasaki's disease
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A lymphadenitis characterized by swelling of cervi.. [+]
A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
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pernicious anemia
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ANEMIA PERNICIOUS; Addison's anaemia; Biermer's an..
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Addison's anaemia; ANEMIA PERNICIOUS; Biermer's anemia; Biermer's anaemia; pernicious anaemia
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A nutritional deficiency disease that is character.. [+]
A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.
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corneal argyrosis
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Argyrosis of cornea; Argentous corneal deposits
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n_a
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osteopetrosis
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Albers-Schonberg disease; marble bone
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An osteosclerosis that has_material_basis_in lack .. [+]
An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
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2 articles
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purulent labyrinthitis
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acute suppurative labyrinthitis; bacterial labyrin..
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acute suppurative labyrinthitis; bacterial labyrinthitis; Suppurative labyrinthitis; Suppurative labyrinthitis (disorder)
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A labyrinthitis which is a bacterial infectious di.. [+]
A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.
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interval angle-closure glaucoma
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Angle-closure glaucoma, subacute; Intermittent ang..
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Angle-closure glaucoma, subacute; Intermittent angle-closure glaucoma; Prodromal angle closure glaucoma
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A primary angle-closure glaucoma characterized by .. [+]
A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow.
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biliary atresia
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Atresia of bile duct; Congenital biliary atresia (..
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Atresia of bile duct; Congenital biliary atresia (disorder); biliary atresia, congenital; Congenital biliary atresia
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A cholestasis characterized by blockage of the duc.. [+]
A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
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patent foramen ovale
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Atrial septal defect within oval fossa; Defect, Pa..
[+]
Atrial septal defect within oval fossa; Defect, Patent or persistent, ostium secundum; Persistent ostium secundum; Ostium secundum type atrial septal defect; foramen ovale patent
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n_a
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ulcer of anus and rectum
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anal and rectal ulcer; anal and rectal ulcer NOS (..
[+]
anal and rectal ulcer; anal and rectal ulcer NOS (disorder)
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n_a
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localized anterior staphyloma
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Anterior staphyloma, localised; Anterior staphylom..
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Anterior staphyloma, localised; Anterior staphyloma, localized; localised anterior staphyloma
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n_a
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inclusion conjunctivitis
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adult inclusion conjunctivitis; Chlamydial conjunc..
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adult inclusion conjunctivitis; Chlamydial conjunctivitis; inclusion blenorrhea; Inclusion blennorrhoea; Paratrachoma
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A commensal bacterial infectious disease that resu.. [+]
A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.
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pharyngoconjunctival fever
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Adenoviral pharyngoconjunctivitis; Adenoviral phar..
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Adenoviral pharyngoconjunctivitis; Adenoviral pharyngoconjunctivitis (disorder); pharyngo-conjunctival fever; Pharyngoconjunctival Fever; Pharyngoconjunctival fever
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A viral infectious disease that results in infecti.. [+]
A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.
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bird fancier's lung
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Avian hypersensitivity Pneumonitis; bird fancier l..
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Avian hypersensitivity Pneumonitis; bird fancier lung; Bird-fanciers' lung; pigeon breeder's lung; bird breeder's lung; Bird-fancier's lung; poultry worker's lung
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An extrinsic allergic alveolitis which is caused b.. [+]
An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
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necrotizing ulcerative gingivitis
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Angina - Vincents; acute necrotizing ulcerative gi..
[+]
Angina - Vincents; acute necrotizing ulcerative gingivostomatitis; ANUG; acute necrotizing ulcerative gingivitis; acute necrotising ulcerative gingivitis [Ambiguous]; acute ulceromembranous gingivitis; acute necrotizing ulcerative gingivostomatitis (disorder); acute necrotising ulcerative gingivostomatitis [Ambiguous]; acute necrotising ulcerative gingivostomatitis; acute necrotising ulcerative gingivitis; (Vincent's angina) or (trench mouth); early acute necrotising gingivitis; Trench mouth; Vincent's Angina; Vincent's angina - pharyngitis (disorder); Vincent's disease; Vincent's infection, any site; Vincent angina; Vincent's angina NOS; trench mouth; Vincent's angina; Vincent's angina - pharyngitis
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n_a
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epicondylitis
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andrel epicondylitis; archer's elbow; golfer's elb..
[+]
archer's elbow; andrel epicondylitis; golfer's elbow; hockey elbow; medial epicondylitis; shooter's elbow; Lateral epicondylitis; tennis elbow
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A bone inflammation disease that results_in inflam.. [+]
A bone inflammation disease that results_in inflammation located_in epicondyle.
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renal artery atheroma
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Atherosclerosis of renal artery (disorder); Athero..
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Atherosclerosis of renal artery (disorder); Atherosclerosis of renal artery; renal atherosclerosis
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n_a
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boutonneuse fever
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African tick typhus; African tick typhus (disorder..
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African tick typhus; African tick typhus (disorder); african tick typhus; Boutonneuse disease; Kenya fever; kenya tick typhus; Mediterranean spotted fever; Mediterranean tick fever; South African tick-bite fever (disorder); marseilles fever; South African tick-bite fever; Rickettsia conorii spotted fever; Conor and Bruch's disease; Kenyan tick typhus
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
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malignant anus melanoma
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anal melanoma; malignant melanoma of anus (disorde..
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anal melanoma; malignant melanoma of anus (disorder); malignant melanoma of anus
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n_a
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frozen shoulder
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adhesions-capsulitis,shoulder; Adhesive capsulitis..
[+]
adhesions-capsulitis,shoulder; Adhesive capsulitis of shoulder
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A connective tissue disease characterized by restr.. [+]
A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion.
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neurogenic arthropathy
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Arthropathy associated with neurological disorder; ..
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Arthropathy associated with neurological disorder; Charcot's joint; Neuropathic arthropathy (& Charcot's); Charcot's arthropathy; Neuropathic arthropathy
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n_a
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skin epithelioid hemangioma
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Angiolymphoid Cutaneous hyperplasia; epithelioid h..
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Angiolymphoid Cutaneous hyperplasia; epithelioid hemangioma of skin (disorder); epithelioid hemangioma of skin
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n_a
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suppurative thyroiditis
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acute suppurative thyroiditis; acute suppurative t..
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acute suppurative thyroiditis; acute suppurative thyroiditis (disorder); Suppurative thyroiditis; Infectious thyroiditis (disorder); Infectious thyroiditis
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n_a
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chronic closed-angle glaucoma
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Anatomical narrow angle glaucoma; chronic narrow a..
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Anatomical narrow angle glaucoma; chronic narrow angle glaucoma; chronic angle-closure glaucoma
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A primary angle-closure glaucoma characterized by .. [+]
A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
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hemangioma of orbit
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Angioma of the orbit
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n_a
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Wolman disease
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acute infantile lysosomal acid lipase deficiency; ..
[+]
acute infantile lysosomal acid lipase deficiency; Acid esterase deficiency; Acid lipase deficiency; Wolman xanthomatosis; Xanthomatosis, familial; Wolman's disease; Wolman's or triglyceride storage type III disease; complete cholesterol ester hydrolase deficiency; complete LAL deficiency; complete LIPA deficiency; complete lysosomal acid lipase deficiency
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A lysosomal acid lipase deficiency characterized b.. [+]
A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
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Fabry disease
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alpha galactosidase deficiency; Angiokeratoma Corp..
[+]
alpha galactosidase deficiency; Angiokeratoma Corporis Diffusum; Alpha-galactosidase A deficiency; Fabry's disease; deficiency of melibiase; Fabry Disease, Cardiac Variant
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A sphingolipidosis that is characterized by the bu.. [+]
A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
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fucosidosis
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A-fucosidase deficiency; alpha fucosidase deficien..
[+]
A-fucosidase deficiency; alpha fucosidase deficiency
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n_a
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rete testis adenocarcinoma
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adenocarcinoma of rete testis; adenocarcinoma of t..
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adenocarcinoma of rete testis; adenocarcinoma of the rete testis
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A rete testis neoplasm that derives_from epithelia.. [+]
A rete testis neoplasm that derives_from epithelial cells of glandular origin.
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Pfeiffer syndrome
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acrocephalosyndactylia type V
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An acrocephalosyndactylia that has_material_basis_.. [+]
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
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beta-ketothiolase deficiency
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alpha-methylacetoaceticaciduria; 2-methyl-3-hydrox..
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alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; Mitochondrial acetoacetyl-CoA Thiolase deficiency; 3-ketothiolase deficiency; 3-oxothiolase deficiency; peroxisomal thiolase deficiency (disorder); peroxisomal thiolase deficiency
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An amino acid metabolic disorder characterized by .. [+]
An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.
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vascular type Ehlers-Danlos syndrome
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autosomal dominant type IV Ehlers-Danlos syndrome; ..
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autosomal dominant type IV Ehlers-Danlos syndrome
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An Ehlers-Danlos syndrome that has_material_basis_.. [+]
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.
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Saethre-Chotzen syndrome
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acrocephalosyndactyly type III
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An acrocephalosyndactylia that has_material_basis_.. [+]
An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
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hypohidrotic ectodermal dysplasia
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anhidrotic ectodermal dysplasia 3; Ectodermal Dysp..
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anhidrotic ectodermal dysplasia 3; Ectodermal Dysplasia 1, Anhydrotic; Hypohidrotic X-linked ectodermal dysplasia (disorder); Christ-Siemens-Touraine Syndrome; Hypohidrotic X-linked ectodermal dysplasia
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An ectodermal dysplasia that is characterized by m.. [+]
An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).
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diphenylmethane-4,4'-diisocyanate allergic asthma
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allergic asthma to MDI
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An isocyanates allergic asthma that has_allergic_t.. [+]
An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate.
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toluene meta-diisocyanate allergic asthma
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allergic asthma to TDI
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An isocyanates allergic asthma that has_allergic_t.. [+]
An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate.
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benzoic acid allergic contact dermatitis
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allergic contact dermatitis to benzoate
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An allergic contact dermatitis that has_allergic_t.. [+]
An allergic contact dermatitis that has_allergic_trigger benzoic acid.
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melphalan allergy
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Alkeran allergy
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A drug allergy that has_allergic_trigger melphalan.. [+]
A drug allergy that has_allergic_trigger melphalan.
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neomycin sulfate allergic contact dermatitis
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allergic contact dermatitis to neomycin sulphate
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An allergic contact dermatitis that has_allergic_t.. [+]
An allergic contact dermatitis that has_allergic_trigger neomycin sulfate.
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formaldehyde allergic contact dermatitis
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allergic contact dermatitis to formalin
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An allergic contact dermatitis that has_allergic_t.. [+]
An allergic contact dermatitis that has_allergic_trigger formaldehyde.
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