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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
nail-patella syndrome
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Fong disease; hereditary onychoostedysplasia; Turn..
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Fong disease; hereditary onychoostedysplasia; Turner-Kiser syndrome; nail patella syndrome; iliac horn syndrome
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A syndrome characterized by nail dysplasia and abs.. [+]
A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
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hyperopia
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farsightedness; Far-sightedness; hypermetropia
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A refractive error that is characterized by rays o.. [+]
A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back.
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hereditary fructose intolerance syndrome
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Fructose-1,6-bisphosphate aldolase B deficiency; F..
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Fructose-1,6-bisphosphate aldolase B deficiency; Fructosemia; Fructosaemia
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A carbohydrate metabolic disorder characterized by.. [+]
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.
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hordeolum
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Furuncle of eyelid; Stye; Boil of eyelid; Hordeolu..
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Furuncle of eyelid; Stye; Boil of eyelid; Hordeolum externum
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An eyelid disease that is characterized by an infe.. [+]
An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.
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dysplastic nevus syndrome
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familial atypical multiple mole-melanoma; FAMM syn..
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familial atypical multiple mole-melanoma; FAMM syndrome
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A syndrome that is characterized by the presence o.. [+]
A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.
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diphyllobothriasis
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fish tapeworm; Diphyllobothrium infection
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A parasitic helminthiasis infectious disease that .. [+]
A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
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psychologic vaginismus
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Functional vaginismus; Psychogenic Vaginismus; Non..
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Functional vaginismus; Psychogenic Vaginismus; Non-organic vaginismus
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A psychosexual disorder that is characterized by i.. [+]
A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
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neuroretinitis
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Focal retinitis and retinochoroiditis, juxtapapill..
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Focal retinitis and retinochoroiditis, juxtapapillary; Papilloretinitis; Juxtapapillary focal retinitis AND retinochoroiditis
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An eye disease that is characterized by inflammati.. [+]
An eye disease that is characterized by inflammation of the retina.
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byssinosis
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Flax-dressers' disease; cotton mill fever; Strippe..
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Flax-dressers' disease; cotton mill fever; Stripper's asthma
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A pneumoconiosis that is characterized by hypersen.. [+]
A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing.
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breast fibroadenosis
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Fibroadenosis of breast; Fibroadenosis of breast N..
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Fibroadenosis of breast; Fibroadenosis of breast NOS (disorder); Fibroadenosis of breast (disorder); Fibroadenosis - breast
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A breast benign neoplasm that has_material_basis_i.. [+]
A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures.
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breast fibrocystic disease
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Fibrocystic disease of breast (disorder); Fibrocys..
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Fibrocystic disease of breast (disorder); Fibrocystic disease of breast; FIBROcystic DISEASE OF breast; Diffuse cystic mastopathy; breast Fibrocystic Change
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A breast benign neoplasm that has_material_basis_i.. [+]
A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces.
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yaws
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frambesia; frambosie; frambesia tropica; Bouba; th..
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frambesia tropica; frambosie; frambesia; Bouba; thymosis; polypapilloma tropicum
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A primary bacterial infectious disease that result.. [+]
A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions.
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early yaws
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Frambesia, initial or primary; bone and joint lesi..
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Frambesia, initial or primary; bone and joint lesions due to yaws; bone and joint yaws lesion; Initial lesions of yaws; chancre of yaws; Initial frambesial ulcer; primary frambesia
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A yaws that results in initial papule at the site .. [+]
A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur.
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steatorrhea
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Fatty stool (finding)
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n_a
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primary polycythemia
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Familiar Polycythemia; familial erythrocytosis
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A polycythemia that has_material_basis_in factors .. [+]
A polycythemia that has_material_basis_in factors intrinsic to red cell precursors.
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hypospadias
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familial hypospadias
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A physical disorder characterized by an abnormally.. [+]
A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
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primary hyperparathyroidism
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familial primary hyperparathyroidism; familial ben..
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familial primary hyperparathyroidism; familial benign hypercalcemia (disorder); primary hyperparathyroidism (disorder)
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A hyperparathyroidism that is characterized by ove.. [+]
A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood.
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typhus
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Famine fever; Flea typhus; Flea-borne typhus; Flea..
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Flea-borne typhus; Flea typhus; Famine fever; Flea-borne rickettsiosis; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Rat flea typhus; Shop typhus; Typhus fever; European typhus; Mexican typhus; Ship fever; Urban typhus; Classical typhus; epidemic louse-borne typhus; Jail fever; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; 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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cat-scratch disease
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Foshay-Mollaret Cat Scratch Fever; Debre's Syndrom..
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Foshay-Mollaret Cat Scratch Fever; Debre's Syndrome; Debre-Mollaret Syndrome; benign lymphoreticulosis; cat scratch fever
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A bartonellosis that results_in infection located_.. [+]
A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain.
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Riley-Day syndrome
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familial autonomic nervous dysfunction; familial d..
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familial autonomic nervous dysfunction; familial dysautonomia; HSAN III
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A hereditary sensory neuropathy that is characteri.. [+]
A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.
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botulism
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Foodborne botulism; Food poisoning due to Clostrid..
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Foodborne botulism; Food poisoning due to Clostridium botulinum; Infection due to clostridium botulinum; Botulism poisoning; Intoxication with Clostridium botulinum toxin
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A primary bacterial infectious disease that involv.. [+]
A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F.
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hypertrophic cardiomyopathy
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familial hypertrophic cardiomyopathy; hypertrophic..
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familial hypertrophic cardiomyopathy; hypertrophic obstructive cardiomyopathy
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An intrinsic cardiomyopathy that is characterized .. [+]
An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.
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1 articles
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hemophilia B
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factor IX deficiency; Congenital factor IX deficie..
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factor IX deficiency; Congenital factor IX deficiency; Congenital factor IX disorder; deficiency, functional factor IX
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A blood coagulation disease that has_material_basi.. [+]
A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
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osteogenesis imperfecta
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Fragilitas ossium; Lobstein's syndrome; Osteopsath..
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Fragilitas ossium; Lobstein's syndrome; Osteopsathyrosis; Vrolik's disease; brittle bone disease
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An osteochondrodysplasia that has_material_basis_i.. [+]
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
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2 articles
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pyromania
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firesetting behavior; Pathological firesetting
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An impulse control disorder that involves the unco.. [+]
An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive.
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Miller Fisher syndrome
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Fisher's syndrome (disorder); Fisher's syndrome; M..
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Fisher's syndrome; Fisher's syndrome (disorder); Miller-Fisher variant of Guillain-Barre syndrome
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A Guillain-Barre syndrome that manifests as a desc.. [+]
A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.
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dilated cardiomyopathy
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Familial dilated cardiomyopathy; Idiopathic dilati..
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Familial dilated cardiomyopathy; Idiopathic dilation cardiomyopathy; primary dilated cardiomyopathy; Congestive cardiomyopathy
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An intrinsic cardiomyopathy that is characterized .. [+]
An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
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3 articles
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persistent fetal circulation syndrome
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Fetal circulation; congenital alveolar capillary d..
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Fetal circulation; congenital alveolar capillary dysplasia with misalignment of pulmonary veins; Persistent fetal circulation; Persistent fetal circulation (disorder); Persistent fetal circulation syndrome (disorder); Persistent pulmonary hypertension of the newborn (disorder); persistent pulmonary hypertension of the newborn; Persistent fetal circulation syndrome; Persistent foetal circulation; Persistent foetal circulation syndrome; persistent foetal circulation syndrome; Persistent pulmonary hypertension of the newborn
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n_a
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paronychia
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fungal nail infection; Onychia and paronychia of f..
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fungal nail infection; Onychia and paronychia of finger; Onychia and paronychia of toe; Infected nailfold; paronychia inflammation
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A nail disease characterized by often-tender bacte.. [+]
A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate.
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glanders
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Farcy pipes; Infection due to Pseudomonas mallei
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A primary bacterial infectious disease that result.. [+]
A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs.
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twin-to-twin transfusion syndrome
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Fetal hemorrhage into co-twin; Fetal blood loss fr..
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Fetal hemorrhage into co-twin; Fetal blood loss from fetal hemorrhage into co-twin; Fetal hemorrhage into co-twin (disorder); Twin to twin transfusion; Twin-to-twin blood transfer (disorder); Twin-to-twin blood transfer
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A neonatal anemia that is characterized by an incr.. [+]
A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced.
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patent foramen ovale
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foramen ovale patent; Atrial septal defect within ..
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foramen ovale patent; Atrial septal defect within oval fossa; Defect, Patent or persistent, ostium secundum; Persistent ostium secundum; Ostium secundum type atrial septal defect
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n_a
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Plasmodium falciparum malaria
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falciparum malaria; Falciparum malaria; Falciparum..
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Falciparum malaria; falciparum malaria; Falciparum malaria [malignant tertian]; Falciparum malaria (disorder); Falciparum Malaria; malignant tertian fever (finding); Plasmodium falciparum malaria, unspecified; Plasmodium falciparum malaria, unspecified (disorder); Malaria fever, subtertian; malignant tertian fever
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A malaria described as a severe form of the diseas.. [+]
A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.
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4 articles
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glucocorticoid-remediable aldosteronism
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familial hyperaldosteronism type I; glucocorticoid..
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familial hyperaldosteronism type I; glucocorticoid-remediable aldosteronism; glucocorticoid-suppressible hyperaldosteronism; GRA; GRS
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A primary hyperaldosteronism characterized by vari.. [+]
A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
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dihydropyrimidine dehydrogenase deficiency
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familial pyrimidinaemia; Dihydropyrimidine dehydro..
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familial pyrimidinaemia; Dihydropyrimidine dehydrogenase deficiency (disorder); Dihydropyrimidine dehydrogenase deficiency; thymine-uracilurea; Dihydrouracil Dehydrogenase deficiency
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A purine-pyrimidine metabolic disorder that is an .. [+]
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
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sclerosing cholangitis
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fibrosing cholangitis
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n_a
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hyperkalemic periodic paralysis
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familial hyperkalemic periodic paralysis; familial..
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familial hyperkalemic periodic paralysis; familial hyperkalemic periodic paralysis (disorder) [Ambiguous]; familial hyperkalemic periodic paralysis (disorder); hyperkalemic periodic paralysis (disorder)
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n_a
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2 articles
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hypokalemic periodic paralysis
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familial periodic paralysis; familial hypokalemic ..
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familial periodic paralysis; familial hypokalemic periodic paralysis; familial periodic paralysis (& [hypokalaemic]); familial hypokalemic periodic paralysis (disorder); Hypokalemic familial periodic paralysis; Hypokalemic periodic paralysis (disorder); periodic hypokalemic paralysis; Hypokalemic periodic paralysis; Periodic paralysis I; Westphal disease
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n_a
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5 articles
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Sjogren-Larsson syndrome
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fatty acid alcohol oxidoreductase deficiency; FALD..
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fatty acid alcohol oxidoreductase deficiency; FALDH deficiency; Sjogren Larsson syndrome; Sjogren-Larsson syndrome (disorder); Sjogren-Larsson's syndrome; SLS
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A syndrome that is characterized by ichthyosis, me.. [+]
A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
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multiple intestinal atresia
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familial intestinal polyatresia syndrome; Multiple..
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familial intestinal polyatresia syndrome; Multiple gastrointestinal atresias (disorder); GIDID; MEDDRA:10028210; Multiple gastrointestinal atresias; gastrointestinal defects and immunodeficiency syndrome
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An intestinal disease characterized by the presenc.. [+]
An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21.
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benign familial neonatal epilepsy
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familial neonatal seizures; familial neonatal seiz..
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familial neonatal seizures; familial neonatal seizures (disorder)
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n_a
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3 articles
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Blount's disease
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familial infantile type osteochondrosis deformans ..
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familial infantile type osteochondrosis deformans tibiae; Blount disease
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An osteochondrodysplasia that results_in inward tu.. [+]
An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.
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amodiaquine allergy
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Flavoquine allergy; Camoquin allergy
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A drug allergy that has_allergic_trigger amodiaqui.. [+]
A drug allergy that has_allergic_trigger amodiaquine.
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ceftazidime allergy
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Fortaz allergy; Tazicef allergy
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A cephalosporin allergy that has_allergic_trigger .. [+]
A cephalosporin allergy that has_allergic_trigger ceftazidime.
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Rocky Mountain spotted fever
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Fiebre maculosa; Fiebre manchada; Brazillian spott..
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Fiebre manchada; Fiebre maculosa; Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Sao Paulo typhus; So Paulo fever; Tick typhus; Tobia fever
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A spotted fever that has_material_basis_in Rickett.. [+]
A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash.
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interstitial lung disease 2
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FIBROCYSTIC PULMONARY DYSPLASIA; cryptogenic fibro..
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FIBROCYSTIC PULMONARY DYSPLASIA; cryptogenic fibrosing alveolitis; IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL; idiopathic pulmonary fibrosis
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An interstitial lung disease pulmonary fibrosis th.. [+]
An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.
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1 articles
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desquamative interstitial pneumonia
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familial desquamative interstitial pneumonitis; RB..
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familial desquamative interstitial pneumonitis; RBILD; respiratory bronchiolitis-associated interstitial lung disease
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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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tick-borne encephalitis
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Far Eastern TBE; Russian spring-summer encephaliti..
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Far Eastern TBE; Russian spring-summer encephalitis; Siberian tick-borne encephalitis; west-Siberian encephalitis; Western European tick-borne encephalitis; Central European encephalitis; Taiga encephalitis
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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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Costello syndrome
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FCS SYNDROME; Faciocutaneoskeletal Syndrome
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A RASopathy characterized by craniofacial dysmorph.. [+]
A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
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1 articles
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endemic typhus
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fleaborne typhus; cat flea rickettsiosis; murine t..
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fleaborne typhus; cat flea rickettsiosis; murine typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; 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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