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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
transient retinal arterial occlusion
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Retinal transient arterial occlusion; Retinal tran..
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Retinal transient arterial occlusion; Retinal transient arterial occlusion NOS (disorder); Transient arterial retinal occlusion (disorder); Transient retinal arterial occlusion; Transient arterial retinal occlusion
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n_a
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fundus dystrophy
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Retinal Dystrophy
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n_a
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1 articles
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neurofibromatosis
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Recklinghausen's neurofibromatosis; Acoustic neuro..
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Recklinghausen's neurofibromatosis; Acoustic neurofibromatosis; Neurofibromatosis 1; neurofibromatosis type 1; neurofibromatosis type 4; neurofibromatosis type IV; type IV neurofibromatosis of riccardi; von Reklinghausen disease; neurofibromatosis type 2; central Neurofibromatosis; peripheral Neurofibromatosis
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n_a
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2 articles
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chorioretinitis
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retinochoroiditis
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n_a
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diabetic retinopathy
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Retinal abnormality - diabetes-related
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n_a
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1 articles
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herpes zoster oticus
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Ramsay Hunt syndrome type 2; Ramsey Hunt syndrome; ..
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Ramsey Hunt syndrome; Ramsay Hunt syndrome type 2; Ramsay Hunt syndrome type II; (Geniculate herpes zoster) or (Ramsey Hunt syndrome); Herpes zoster auricularis (disorder); Herpes Zoster Oticus; Herpetic geniculate ganglionitis; nervus intermedius neuralgia; Geniculate herpes zoster; geniculate neuralgia; Herpes zoster auricularis
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A viral infectious disease that results_in inflamm.. [+]
A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
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intracranial hypertension
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Raised intracranial pressure
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A brain disease that is characterized by high pres.. [+]
A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.
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neovascular inflammatory vitreoretinopathy
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Retinitis proliferans; ADNIV; autosomal dominant n..
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Retinitis proliferans; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; proliferative vitreoretinopathy
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A retinal and vitreous disease characterized by oc.. [+]
A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.
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1 articles
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Caplan's syndrome
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Rheumatoid pneumoconiosis; Caplan syndrome; Caplan..
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Rheumatoid pneumoconiosis; Caplan syndrome; Caplans syndrome; Caplan's disease
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A pneumoconiosis that results_in humans that also .. [+]
A pneumoconiosis that results_in humans that also have rheumatoid arthritis.
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common cold
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rhino-sinusitis; acute coryza; acute nasopharyngit..
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rhino-sinusitis; acute coryza; acute nasopharyngitis [common cold]; acute rhinitis; Acute viral rhinopharyngitis; Nasopharyngitis - acute; acute Nasopharyngitis; Nasopharyngitis, acute; acute nasopharyngitis
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An upper respiratory tract disease which involves .. [+]
An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.
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Queensland tick typhus
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Rickettsia australis spotted fever; Australian tic..
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Rickettsia australis spotted fever; Australian tick typhus; Queensland tick typhus (disorder); North Queensland tick typhus
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
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Siberian tick typhus
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Rickettsia sibirica spotted fever; North Asian tic..
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Rickettsia sibirica spotted fever; North Asian tick fever; North Asian tick fever (disorder) [Ambiguous]; North Asian tick typhus (disorder); Siberian tick typhus (disorder); North Asian tick fever NOS (disorder); manchurian typhus; North Asian tick typhus
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash.
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Felty's syndrome
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Rheumatoid arthritis with splenoadenomegaly and le..
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Rheumatoid arthritis with splenoadenomegaly and leukopenia; Felty syndrome
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A syndrome that results_in rheumatoid arthritis, s.. [+]
A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
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bartonellosis
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Rochalimaea infection; Rochalimaea infection (diso..
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Rochalimaea infection; Rochalimaea infection (disorder); Bartonella infectious disease; bartonelliasis
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A primary bacterial infectious disease that is cau.. [+]
A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella.
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fundus albipunctatus
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retinitis punctata albescens; Pigmentary retinal d..
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retinitis punctata albescens; Pigmentary retinal dystrophy
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A fundus dystrophy that is characterized by discre.. [+]
A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
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neonatal respiratory failure
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respiratory failure of newborn
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A respiratory failure that is characterized by ina.. [+]
A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates.
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Brill-Zinsser disease
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Recrudescent typhus; Brill's disease; Brill-Zinsse..
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Recrudescent typhus; Brill's disease; Brill-Zinsser disease (disorder); Latent typhus; Sporadic typhus; Brill Zinsser disease
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An epidemic typhus that is a mild form of the dise.. [+]
An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses.
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typhus
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Rat flea typhus; Classical typhus (fever); endemic..
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Rat flea typhus; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Flea-borne rickettsiosis; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Shop typhus; Typhus fever; European typhus; Famine fever; Mexican typhus; Ship fever; Urban typhus; Classical typhus; epidemic louse-borne typhus; Flea typhus; Jail fever; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Hospital fever; Louse-borne rickettsiosis; Moscow typhus; Petechial fever
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A primary bacterial infectious disease that refers.. [+]
A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites.
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arteriovenous malformation
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Racemose aneurysm; Racemose hemangioma; Racemose a..
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Racemose hemangioma; Racemose aneurysm; Racemose aneurysm (morphologic abnormality); Racemose hemangioma (morphologic abnormality); Racemose Angioma; Arteriovenous hemangioma (disorder); Cirsoid aneurysm; Arteriovenous hemangioma
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A hemangioma that is characterized by a configurat.. [+]
A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
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thyroid hormone resistance syndrome
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Refetoff syndrome (disorder); Refetoff syndrome; t..
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Refetoff syndrome; Refetoff syndrome (disorder); thyroid hormone resistance; Thyroid hormone resistance syndrome (disorder); Thyroid hormone responsiveness defect (disorder); Generalized thyroid hormone resistance (disorder); Generalized thyroid hormone resistance; Thyroid hormone resistance syndrome; Thyroid hormone responsiveness defect
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n_a
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bronchopulmonary dysplasia
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Respiratory insufficiency; Bronchopulmonary dyspla..
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Respiratory insufficiency; Bronchopulmonary dysplasia of newborn (disorder); neonatal chronic respiratory disease; Perinatal bronchopulmonary dysplasia; Bronchopulmonary dysplasia of newborn; Chronic lung disease of prematurity; Neonatal chronic lung disease
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A lung disease that is characterized by underdevel.. [+]
A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.
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nephrosclerosis
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renal sclerosis
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n_a
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tinea pedis
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ringworm of foot; Dermatophytosis of foot; Athlete..
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ringworm of foot; Dermatophytosis of foot; Athlete's foot
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A dermatophytosis that results_in fungal infection.. [+]
A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot.
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newborn respiratory distress syndrome
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respiratory distress syndrome of newborn; pulmonar..
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respiratory distress syndrome of newborn; pulmonary hyaline membrane disease; Neonatal respiratory Distress syndrome; hyaline membrane disease; HMD - Hyaline membrane disease; pulmonary hypoperfusion syndrome of newborn
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A respiratory failure that is characterized by def.. [+]
A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
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mucocele of salivary gland
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Ranula; Mucous retention cyst of salivary gland; S..
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Ranula; Mucous retention cyst of salivary gland; Salivary Cyst; Salivary gland mucocele
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n_a
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louse-borne relapsing fever
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Relapsing fever, louse-borne; Louse-borne relapsin..
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Relapsing fever, louse-borne; Louse-borne relapsing fever (disorder); Louse-borne relapsing fever
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A relapsing fever that is characterized by relapsi.. [+]
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
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tick-borne relapsing fever
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Relapsing fever, tick-borne; Tick-borne relapsing ..
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Relapsing fever, tick-borne; Tick-borne relapsing fever (disorder); Tick-borne relapsing fever NOS (disorder); Tick-borne relapsing fever; soft tick relapsing fever
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A relapsing fever that is characterized by relapsi.. [+]
A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy.
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branch retinal artery occlusion
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retinal arterial branch occlusion; Retinal arteria..
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retinal arterial branch occlusion; Retinal arterial branch occlusion; Retinal Arterial Branch Occlusion; Arterial retinal branch occlusion (disorder); Arterial retinal branch occlusion
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n_a
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substernal goiter
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Retrosternal thyroid goitre; Retrosternal thyroid ..
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Retrosternal thyroid goitre; Retrosternal thyroid goiter; Substernal goiter (disorder); Substernal goiter; Substernal goitre; substernal goitre
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n_a
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megaloblastic anemia
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recessive hereditary megaloblastic anemia 1; reces..
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recessive hereditary megaloblastic anemia 1; recessive hereditary megaloblastic anaemia 1; RH-MGA1; Grasbeck-Imerslund syndrome; IGS; MGA1 Norwegian type; Imerslund-Grasbeck syndrome; megaloblastic anaemia
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A macrocytic anemia that is characterized by inhib.. [+]
A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.
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peptic esophagitis
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reflux esophagitis; Reflux oesophagitis; Peptic es..
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Reflux oesophagitis; reflux esophagitis; Peptic esophagitis; Peptic reflux disease
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n_a
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boutonneuse fever
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Rickettsia conorii spotted fever; african tick typ..
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Rickettsia conorii spotted fever; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Kenya fever; kenya tick typhus; Mediterranean spotted fever; Mediterranean tick fever; South African tick-bite fever (disorder); African tick typhus; marseilles fever; South African tick-bite 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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De Quervain disease
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Radial styloid tenosynovitis; Tenosynovitis, de Qu..
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Radial styloid tenosynovitis; Tenosynovitis, de Quervain's
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n_a
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acute retrobulbar neuritis
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Retrobulbar neuritis; Retrobulbar neuritis (acute)..
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Retrobulbar neuritis; Retrobulbar neuritis (acute); acute retrobulbar neuritis (disorder)
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n_a
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systemic primary carnitine deficiency disease
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renal carnitine transport defect; renal carnitine ..
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renal carnitine transport defect; renal carnitine transport defect (disorder); carnitine transporter deficiency; carnitine uptake defect; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency
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An amino acid metabolic disorder that involves def.. [+]
An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
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partial arterial retinal occlusion
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Retinal partial arterial occlusion; Retinal partia..
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Retinal partial arterial occlusion; Retinal partial arterial occlusion NOS (disorder); Partial Retinal Arterial Occlusion; Partial retinal arterial occlusion; Partial arterial retinal occlusion (disorder); Partial arterial retinal occlusion; partial retinal arterial occlusion
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n_a
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Axenfeld-Rieger syndrome
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RGS - Rieger syndrome; Rieger's anomaly; Anomaly, ..
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Rieger's anomaly; RGS - Rieger syndrome; Anomaly, Rieger's; Axenfeld syndrome; Hagedoom syndrome
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An eye disease characterized by abnormalities of t.. [+]
An eye disease characterized by abnormalities of the front part of the eye, the anterior segment.
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3 articles
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Smith-Lemli-Opitz syndrome
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Rutledge lethal multiple congenital anomaly syndro..
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Rutledge lethal multiple congenital anomaly syndrome; Smith-Opitz-Inborn syndrome
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n_a
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2 articles
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thrombocytopenia-absent radius syndrome
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Radial aplasia-thrombocytopenia syndrome; Radial a..
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Radial aplasia-thrombocytopenia syndrome; Radial aplasia-thrombocytopenia syndrome (disorder); chromosome 1q21.1 deletion syndrome; Thrombocytopenia with absent radii (TAR) syndrome
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A chromosomal deletion syndrome that is characteri.. [+]
A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other.
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ceftriaxone allergy
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rocephin allergy
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A cephalosporin allergy that has_allergic_trigger .. [+]
A cephalosporin allergy that has_allergic_trigger ceftriaxone.
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African tick-bite fever
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Rickettsia africae spotted fever; south african ti..
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Rickettsia africae spotted fever; south african tick-bite fever
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
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Far Eastern spotted fever
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Rickettsia heilongjiangensis spotted fever
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
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Japanese spotted fever
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Rickettsia japonica spotted fever; oriental spotte..
[+]
Rickettsia japonica spotted fever; oriental spotted fever
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
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desquamative interstitial pneumonia
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respiratory bronchiolitis-associated interstitial ..
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respiratory bronchiolitis-associated interstitial lung disease; RBILD; familial desquamative interstitial pneumonitis
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An idiopathic interstitial pneumonia that is chara.. [+]
An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
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inhalation anthrax
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respiratory anthrax; pulmonary anthrax; wool-sorte..
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respiratory anthrax; pulmonary anthrax; wool-sorters' disease; woolsorters' disease
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An anthrax disease that results in infection locat.. [+]
An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
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tick-borne encephalitis
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Russian spring-summer encephalitis; Siberian tick-..
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Russian spring-summer encephalitis; Siberian tick-borne encephalitis; west-Siberian encephalitis; Western European tick-borne encephalitis; Central European encephalitis; Taiga encephalitis; Far Eastern TBE
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A viral infectious disease that results_in inflamm.. [+]
A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
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arrhythmogenic right ventricular cardiomyopathy
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right ventricular ACM; arrhythmogenic right ventri..
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right ventricular ACM; arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular dysplasia/cardiomyopathy; ARVC; ARVD; ARVC cardiomyopathy
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An intrinsic cardiomyopathy that is characterized .. [+]
An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.
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1 articles
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X-linked dominant hypophosphatemic rickets
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Rickets, Vitamin D-Resistant; Hypophosphatemia, Vi..
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Rickets, Vitamin D-Resistant; Hypophosphatemia, Vitamin D-Resistant Rickets; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia; hypophosphatemic rickets X-linked dominant
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A rickets has_material_basis_in X-linked mutations.. [+]
A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
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1 articles
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endemic typhus
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Rat-Flea Typhus; Rickettsia felis spotted fever; c..
[+]
Rickettsia felis spotted fever; Rat-Flea Typhus; cat flea rickettsiosis; fleaborne typhus; murine typhus; Shop typhus; toulon typhus; urban typhus; Urban Typhus of Malaya
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A typhus that has_material_basis_in Rickettsia typ.. [+]
A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash.
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aneruptive fever
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Rickettsia helvetica spotted fever
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia.
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