| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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pseudosarcomatous fibromatosis
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Fasciitis - nodular; nodular fasciitis; Pseudosarc..
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Fasciitis - nodular; nodular fasciitis; Pseudosarcomatous fibromatosis; Pseudosarcomatous fibromatosis (disorder); nodular fasciitis (disorder); Pseudosarcomatous Fasciitis
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n_a
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inhibited female orgasm
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female Orgasmic disorder
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n_a
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dendritic cell sarcoma
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follicular dendritic cell sarcoma; Dendritic cell ..
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follicular dendritic cell sarcoma; Dendritic cell sarcoma; Dendritic cell sarcoma, not otherwise specified (morphologic abnormality); Dendritic cell sarcoma, not otherwise specified
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A histiocytic and dendritic cell cancer that is ma.. [+]A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes.
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cerebral falx meningioma
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Falcine meningioma
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n_a
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intestinal volvulus
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familial intestinal malrotation; intestinal volvul..
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familial intestinal malrotation; intestinal volvulus; Twist of intestine, bowel, or colon; Volvulus; volvulus of midgut
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An intestinal obstruction characterized by abnorma.. [+]An intestinal obstruction characterized by abnormal rotation of the intestines.
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influenza
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flu; influenza with non-respiratory manifestation; ..
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flu; influenza with non-respiratory manifestation; Influenza with non-respiratory manifestation (disorder); Influenza with other manifestations (disorder); Influenza with other manifestations NOS (disorder); Influenza with other manifestations; Influenza with non-respiratory manifestation
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A viral infectious disease that results in infecti.. [+]A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.
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1 articles
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infectious mononucleosis
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Filatov's disease; Gammaherpesviral mononucleosis ..
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Filatov's disease; Gammaherpesviral mononucleosis (disorder); glandular fever; Monocytic angina; Pfeiffer's disease (disorder); Pfeiffer's disease; mononucleosis; Gammaherpesviral mononucleosis
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A viral infectious disease that results in inflamm.. [+]A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
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erythema infectiosum
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Fifth disease; Erythema infectiosum (disorder); Er..
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Fifth disease; Erythema infectiosum (disorder); Erythema infectiosum
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n_a
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gastric mucosal hypertrophy
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familial giant hypertrophic gastritis; Giant rugal..
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familial giant hypertrophic gastritis; Giant rugal hypertrophy of stomach; hypertrophic gastropathy (disorder); MENETRIER DISEASE; hypertrophic gastritis; hypertrophic gastropathy
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n_a
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lattice corneal dystrophy
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familial amyloid neuropathy, Finnish type
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An epithelial-stromal TGFBI dystrophy that is char.. [+]An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface.
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bladder carcinoma in situ
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Flat CIS of the urinary bladder; bladder Ca in sit..
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Flat CIS of the urinary bladder; bladder Ca in situ; carcinoma in situ of bladder
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An in situ carcinoma that is located_in the bladde.. [+]An in situ carcinoma that is located_in the bladder.
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neurotic excoriation
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Factitious skin disease; Factitious skin disease (..
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Factitious skin disease; Factitious skin disease (disorder); Dermatitis factitia [artefacta]; Dermatitis ficta; Dermatitis factitia (disorder); Dermatitis artefacta; Dermatitis factitia
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n_a
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phenylketonuria
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Følling's disease; Folling's disease; maternal ph..
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Folling's disease; Følling's disease; maternal phenylketonuria; phenylalaninemia; PKU
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An amino acid metabolic disorder that is character.. [+]An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
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steatotic liver disease
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Fatty change of liver; fatty liver disease; alcoho..
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fatty liver disease; Fatty change of liver; alcoholic fatty liver; Steatosis of liver (disorder); hepatic lipidosis; Steatosis of liver; cryptogenic steatotic liver disease; hepatic steatosis; SLD
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A lipid storage disease characterized by the accum.. [+]A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
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3 articles
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nail-patella syndrome
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Fong disease; hereditary onychoostedysplasia; Turn..
[+]
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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