| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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descending colon cancer
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malignant tumor of descending colon; malignant tum..
[+]
malignant tumor of descending colon; malignant tumor of descending colon (disorder); malignant neoplasm of left colon; Ca descending colon (disorder); Ca descending colon
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n_a
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splenic flexure cancer
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malignant tumor of splenic flexure; malignant tumo..
[+]
malignant tumor of splenic flexure; malignant tumor of splenic flexure (disorder); malignant neoplasm of splenic flexure; Ca splenic flexure - colon; Ca splenic flexure - colon (disorder)
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n_a
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sigmoid colon cancer
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malignant tumor of sigmoid colon; malignant tumor ..
[+]
malignant tumor of sigmoid colon; malignant tumor of sigmoid colon (disorder); Ca sigmoid colon; Ca sigmoid colon (disorder)
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n_a
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testicular lymphoma
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malignant lymphoma of testis; malignant lymphoma o..
[+]
malignant lymphoma of testis; malignant lymphoma of testis (disorder); lymphoma of the testis; testicular Lymphoma
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n_a
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intrahepatic gall duct cancer
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malignant neoplasm of intrahepatic bile ducts; mal..
[+]
malignant neoplasm of intrahepatic bile ducts; malignant neoplasm of intrahepatic gall duct; malignant neoplasm of intrahepatic biliary passages (disorder); malignant neoplasm of intrahepatic gall duct (disorder); malignant neoplasm of intrahepatic biliary passages; malignant neoplasm of intrahepatic bile ducts NOS (disorder); Ca intrahepatic bile ducts (disorder); Ca intrahepatic bile ducts
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n_a
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hematocele of tunica vaginalis testis
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male hematocele; Hematocele
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n_a
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dyscalculia
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Mathematics disorder; disorder of arithmetical ski..
[+]
Mathematics disorder; disorder of arithmetical skills
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A learning disability involving a math disability .. [+]A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
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olecranon bursitis
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Miner's elbow; Miners' elbow; Bursitis of elbow; B..
[+]
Miners' elbow; Miner's elbow; Bursitis of elbow; Bursitis of elbow region; Capped elbow; Elbow bursitis (& olecranon); Shoe boil; Elbow bursitis
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n_a
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paracoccidioidomycosis
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Mucocutaneous-lymphangitic paracoccidioidomycosis; ..
[+]
Mucocutaneous-lymphangitic paracoccidioidomycosis; Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder); Paracoccidioidomycosis (disorder); Paracoccidioidomycosis NOS (disorder); Paracoccidioidomycosis, unspecified (disorder); Paracoccidioidomycosis; paracoccidioidal mycosis
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A primary systemic mycosis that results_in systemi.. [+]A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
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nephronophthisis
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medullary cystic disease; medullary cystic kidney; ..
[+]
medullary cystic kidney; medullary cystic disease
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A kidney disease that is characterized by a chroni.. [+]A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
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8 articles
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21 matches
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Ellis-Van Creveld syndrome
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mesoectodermal dysplasia; Chondroectodermal dyspla..
[+]
mesoectodermal dysplasia; Chondroectodermal dysplasia (disorder); Chondroectodermal dysplasia; Ellis-van Creveld syndrome
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A syndrome characterized by short limbs, short rib.. [+]A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
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lacrimal duct cancer
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malignant tumor of lacrimal duct; malignant neopla..
[+]
malignant tumor of lacrimal duct; malignant neoplasm of lacrimal duct NOS (disorder); malignant neoplasm of lacrimal duct
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n_a
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choroid cancer
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malignant tumor of choroid; malignant tumor of cho..
[+]
malignant tumor of choroid; malignant tumor of choroid (disorder); malignant tumor of the Choroid; choroid neoplasm; neoplasm of choroid (disorder); Choroidal tumor; neoplasm of choroid
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n_a
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Sly syndrome
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mucopolysaccharidosis VII; MPS VII - Sly syndrome; ..
[+]
MPS VII - Sly syndrome; mucopolysaccharidosis VII; deficiency of beta-glucuronidase; beta-glucuronidase deficiency
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A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
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Plasmodium ovale malaria
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Malariaby Plasmodium ovale; Ovale malaria
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A malaria characterized as a relatively mild form .. [+]A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
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hereditary spherocytosis
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Minkowski Chauffard syndrome; Congenital spherocyt..
[+]
Minkowski Chauffard syndrome; Congenital spherocytic hemolytic anemia; spherocytic anemia
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A congenital hemolytic anemia characterized by the.. [+]A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
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Plasmodium vivax malaria
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Malaria by Plasmodium vivax; Vivax Malaria
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A malaria that is caused by the protozoan parasite.. [+]A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
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intra-abdominal lymph node mast cell malignancy
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malignant mast cell tumors involving intra-abdomin..
[+]
malignant mast cell tumors involving intra-abdominal lymph nodes; Mast cell malignancy of intra-abdominal lymph nodes; Mast cell malignancy of intra-abdominal lymph nodes (disorder)
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n_a
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eumycotic mycetoma
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Mycotic mycetoma; maduromycosis; Maduromycosis, my..
[+]
maduromycosis; Mycotic mycetoma; Maduromycosis, mycotic; Madura foot; eumycetoma
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A dermatomycosis that effects skin and subcutaneou.. [+]A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
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scrotum melanoma
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melanoma of scrotum
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n_a
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prepuce cancer
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malignant tumor of foreskin; malignant neoplasm of..
[+]
malignant tumor of foreskin; malignant neoplasm of foreskin; malignant tumor of foreskin (disorder)
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n_a
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spermatic cord cancer
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malignant tumor of the Spermatic Cord; malignant t..
[+]
malignant tumor of the Spermatic Cord; malignant tumor of spermatic cord; malignant tumor of spermatic cord (disorder); Spermatic cord Ca
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n_a
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hole retinal cyst
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Macular cyst or hole; Macular pseudohole retinal c..
[+]
Macular cyst or hole; Macular pseudohole retinal cyst; Macular cyst, hole, or pseudohole of retina
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n_a
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laryngeal cartilage cancer
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malignant neoplasm of laryngeal cartilages; malign..
[+]
malignant neoplasm of laryngeal cartilages; malignant tumor of laryngeal cartilage; malignant neoplasm of laryngeal cartilage; malignant tumor of laryngeal cartilage (disorder); malignant neoplasm of laryngeal cartilage NOS (disorder)
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n_a
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tinea profunda
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Majocchi's granuloma; Deep seated dermatophytosis; ..
[+]
Majocchi's granuloma; Deep seated dermatophytosis; Granuloma trichophyticum
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A tinea corporis that results_in fungal infection .. [+]A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.
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scrub typhus
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Mite-borne typhus; Mite-borne rickettsiosis; Chigg..
[+]
Mite-borne rickettsiosis; Mite-borne typhus; Chigger-borne typhus; Scrub mite-borne typhus; Tsutsugamushi; Tsutsugamushi disease; Typhus fever due to Rickettsia tsutsugamushi; Kedani fever; Tropical typhus; Chigger-borne rickettsiosis; Japanese river fever; Scrub (mite-borne) typhus; Tsutsugamushi fever
[-]
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A typhus that has_material_basis_in Orientia tsuts.. [+]A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.
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fibrodysplasia ossificans progressiva
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myositis ossificans progressiva; progressive myosi..
[+]
myositis ossificans progressiva; progressive myositis ossificans; Stone Man Syndrome; progressive ossifying myositis
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A connective tissue disease that is characterized .. [+]A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.
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Kawasaki disease
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MLNS; mucocutaneous lymph node syndrome; acute feb..
[+]
mucocutaneous lymph node syndrome; MLNS; acute febrile mucocutaneous lymph node syndrome [MCLS]; Kawasaki's disease; acute febrile mucocutaneous lymph node syndrome; acute febrile MCLS
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A lymphadenitis characterized by swelling of cervi.. [+]A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
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supraglottis cancer
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malignant tumor of supraglottis; malignant tumor o..
[+]
malignant tumor of supraglottis; malignant tumor of supraglottis (disorder); malignant Supraglottic tumor; malignant neoplasm of supraglottis; malignant neoplasm of extrinsic larynx; Ca larynx - supraglottis (disorder); supraglottis; Ca larynx - supraglottis
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n_a
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jejunal cancer
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malignant tumor of jejunum; malignant tumor of jej..
[+]
malignant tumor of jejunum; malignant tumor of jejunum (disorder); malignant neoplasm of jejunum
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n_a
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osteopetrosis
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marble bone; Albers-Schonberg disease
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An osteosclerosis that has_material_basis_in lack .. [+]An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
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2 articles
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dental fluorosis
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Mottled teeth; Mottling of enamel; Intrinsic ename..
[+]
Mottling of enamel; Mottled teeth; Intrinsic enamel discolouration of fluorosis
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A tooth disease characterized by enamel discolorat.. [+]A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.
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female breast central part cancer
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malignant neoplasm of central part of female breas..
[+]
malignant neoplasm of central part of female breast; malignant neoplasm of central part of female breast (disorder); malignant neoplasm of central portion of female breast
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A female breast cancer that is located_in the cent.. [+]A female breast cancer that is located_in the center of the breast.
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familial combined hyperlipidemia
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mixed hyperlipidaemia; mixed hyperlipidemia (disor..
[+]
mixed hyperlipidaemia; mixed hyperlipidemia (disorder); mixed hyperlipidemia; familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); hyperbetalipoproteinemia with prebetalipoproteinemia; familial multiple lipoprotein-type hyperlipidemia; type IIb hyperlipoproteinemia
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n_a
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achromatopsia
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Monochromatism; ACHM
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A color blindness that is characterized by a conge.. [+]A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
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3 articles
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female breast lower-outer quadrant cancer
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malignant neoplasm of lower-outer quadrant of fema..
[+]
malignant neoplasm of lower-outer quadrant of female breast; malignant neoplasm of lower-outer quadrant of female breast (disorder)
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A female breast cancer that is located_in the lowe.. [+]A female breast cancer that is located_in the lower-outer qudrant of the breast.
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cleidocranial dysplasia
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Marie-Sainton Disease; cleidocranial dysostosis
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An osteochondrodysplasia that has_material_basis_i.. [+]An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
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paraurethral gland cancer
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malignant tumor of the Paraurethral gland; maligna..
[+]
malignant tumor of the Paraurethral gland; malignant tumor of paraurethral gland; malignant tumor of paraurethral gland (disorder)
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A female reproductive organ cancer that is located.. [+]A female reproductive organ cancer that is located_in the paraurethral glands.
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Plasmodium falciparum malaria
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malignant tertian fever; Malaria fever, subtertian..
[+]
malignant tertian fever; Malaria fever, subtertian; malignant tertian fever (finding); Falciparum Malaria; Falciparum malaria (disorder); Falciparum malaria [malignant tertian]; Plasmodium falciparum malaria, unspecified; Plasmodium falciparum malaria, unspecified (disorder); falciparum malaria; Falciparum malaria
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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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blackwater fever
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Malarial Hemoglobinuria; Black water fever (disord..
[+]
Malarial Hemoglobinuria; Black water fever (disorder); Black water fever; Hemoglobinuric, malaria; Blackwater fever
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A malaria that presents as a rare febrile complica.. [+]A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.
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cerebral malaria
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Malarial encephalitis
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A malaria that involves neurologic damage resultin.. [+]A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.
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epicondylitis
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medial epicondylitis; andrel epicondylitis; archer..
[+]
medial epicondylitis; andrel epicondylitis; archer's elbow; golfer's elbow; hockey elbow; shooter's elbow; Lateral epicondylitis; tennis elbow
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A bone inflammation disease that results_in inflam.. [+]A bone inflammation disease that results_in inflammation located_in epicondyle.
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boutonneuse fever
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Mediterranean tick fever; marseilles fever; Medite..
[+]
marseilles fever; Mediterranean tick fever; Mediterranean spotted fever; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Kenya fever; kenya tick typhus; South African tick-bite fever (disorder); African tick typhus; South African tick-bite fever; Rickettsia conorii spotted fever; Conor and Bruch's disease; Kenyan tick typhus
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A spotted fever that has_material_basis_in Rickett.. [+]A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
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anus cancer
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malignant anal tumor; anal cancer
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A large intestine cancer that is located_in the an.. [+]A large intestine cancer that is located_in the anus.
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familial lipoprotein lipase deficiency
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mixed hyperglyceridemia; familial hyperchylomicron..
[+]
mixed hyperglyceridemia; familial hyperchylomicronemia (disorder); familial hyperlipoproteinemia type I; familial lipoprotein lipase deficiency (disorder) [Ambiguous]; familial lipoprotein lipase deficiency with type I phenotype; Fredrickson type I hyperlipoproteinemia (disorder); Fredrickson type I lipaemia; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; familial chylomiconemia syndrome; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; familial chylomicronemia syndrome
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A familial hyperlipemia characterized by a deficie.. [+]A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.
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spinal cord melanoma
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melanoma of the Spinal Cord
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n_a
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abdominal obesity-metabolic syndrome 1
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metabolic syndrome X; dysmetabolic syndrome X; abd..
[+]
metabolic syndrome X; dysmetabolic syndrome X; abdominal obesity-metabolic syndrome 1
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An abdominal obesity-metabolic syndrome characteri.. [+]An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.
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fragile X syndrome
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MARTIN-BELL SYNDROME; MARKER X SYNDROME; FRAGILE X..
[+]
MARKER X SYNDROME; MARTIN-BELL SYNDROME; FRAGILE X MENTAL RETARDATION SYNDROME
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A syndrome that is characterized by moderate to se.. [+]A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
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4 articles
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Noonan syndrome with multiple lentigines
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Multiple lentigines syndrome; Multiple lentigines ..
[+]
Multiple lentigines syndrome; Multiple lentigines syndrome (disorder); Moynahan syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Cardiocutaneous syndrome; Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Noonan syndrome with multiple lentigines; Generalized lentiginosis; Progressive cardiomyopathic lentiginosis
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A RASopathy that is characterized by autosomal dom.. [+]A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
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1 articles
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Plasmodium malariae malaria
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Malaria by Plasmodium malariae; Quartan Malaria
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A malaria caused by a parasite Plasmodium malariae.. [+]A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals.
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