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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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..
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Miners' elbow; Miner's elbow; Bursitis of elbow; Bursitis of elbow region; Capped elbow; Elbow bursitis (& olecranon); Shoe boil
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n_a
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paracoccidioidomycosis
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Mucocutaneous-lymphangitic paracoccidioidomycosis ..
[+]
Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder); Mucocutaneous-lymphangitic paracoccidioidomycosis; paracoccidioidal mycosis; Paracoccidioidomycosis (disorder); Paracoccidioidomycosis NOS (disorder); Paracoccidioidomycosis, unspecified (disorder)
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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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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 the Choroid; malignant tumor of..
[+]
malignant tumor of the Choroid; malignant tumor of choroid (disorder); choroid neoplasm; Choroidal tumor; neoplasm of choroid (disorder)
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n_a
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Sly syndrome
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MPS VII - Sly syndrome; mucopolysaccharidosis VII; ..
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mucopolysaccharidosis VII; MPS VII - Sly syndrome; beta-glucuronidase deficiency; deficiency of beta-glucuronidase
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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 characaterized as a relatively mild form.. [+]
A malaria characaterized 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..
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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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Mast cell malignancy of intra-abdominal lymph node..
[+]
Mast cell malignancy of intra-abdominal lymph nodes; Mast cell malignancy of intra-abdominal lymph nodes (disorder); malignant mast cell tumors involving intra-abdominal lymph nodes
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n_a
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eumycotic mycetoma
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Maduromycosis, mycotic; Mycotic mycetoma; maduromy..
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Mycotic mycetoma; Maduromycosis, mycotic; maduromycosis; 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 (disorder); malignant ..
[+]
malignant tumor of foreskin (disorder); malignant neoplasm of foreskin
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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 (disorder); Spermatic cord Ca
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n_a
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hole retinal cyst
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Macular pseudohole retinal cyst; Macular cyst, hol..
[+]
Macular pseudohole retinal cyst; Macular cyst, hole, or pseudohole of retina; Macular cyst or hole
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n_a
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laryngeal cartilage cancer
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malignant tumor of laryngeal cartilage (disorder); ..
[+]
malignant tumor of laryngeal cartilage (disorder); malignant neoplasm of laryngeal cartilages; 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 rickettsiosis; Mite-borne typhus; Chigg..
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Mite-borne typhus; Mite-borne rickettsiosis; Chigger-borne rickettsiosis; Chigger-borne typhus; Japanese river fever; Kedani fever; Scrub (mite-borne) typhus; Scrub mite-borne typhus; Tropical typhus; Tsutsugamushi; Tsutsugamushi disease; Tsutsugamushi fever; Typhus fever due to Rickettsia tsutsugamushi
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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..
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myositis ossificans progressiva; progressive myositis ossificans; progressive ossifying myositis; Stone Man Syndrome
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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 MCLS; acute febrile mucocutaneous lymph node syndrome [MCLS]; Kawasaki's disease
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A lymphadenitis characterized by swelling of cervi.. [+]
A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
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supraglottis cancer
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malignant tumor of supraglottis (disorder); malign..
[+]
malignant tumor of supraglottis (disorder); malignant Supraglottic tumor; malignant neoplasm of supraglottis; malignant neoplasm of extrinsic larynx; Ca larynx - supraglottis; Ca larynx - supraglottis (disorder); 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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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 portion of female breast; malignant neoplasm of central part of female breast (disorder)
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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 hyperlipidemia (disorder); mixed hyperlipide..
[+]
mixed hyperlipidemia (disorder); mixed hyperlipidemia; mixed hyperlipidaemia; familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); hyperbetalipoproteinemia with prebetalipoproteinemia; type IIb hyperlipoproteinemia; familial multiple lipoprotein-type hyperlipidemia
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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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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 (disorder)
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n_a
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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 (disorder)
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n_a
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Plasmodium falciparum malaria
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malignant tertian fever (finding); Malaria fever, ..
[+]
malignant tertian fever (finding); Malaria fever, subtertian; Falciparum Malaria; Falciparum malaria (disorder); Falciparum malaria [malignant tertian]; Plasmodium falciparum malaria, unspecified; Plasmodium falciparum malaria, unspecified (disorder)
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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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blackwater fever
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Malarial Hemoglobinuria; Black water fever (disord..
[+]
Malarial Hemoglobinuria; Black water fever (disorder); Blackwater fever; Hemoglobinuric, malaria
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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; Lateral epicondylitis; shooter's elbow; 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; Mediterranean spotted fe..
[+]
Mediterranean tick fever; Mediterranean spotted fever; marseilles fever; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Conor and Bruch's disease; Kenya fever; kenya tick typhus; Kenyan tick typhus; Rickettsia conorii spotted fever; South African tick-bite fever (disorder)
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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; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia (disorder); Fredrickson type I lipaemia; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; familial chylomiconemia syndrome; Fredrickson type I hyperlipoproteinemia
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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; abdominal obesity-metabolic ..
[+]
metabolic syndrome X; abdominal obesity-metabolic syndrome 1; dysmetabolic syndrome X
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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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MARKER X SYNDROME; MARTIN-BELL SYNDROME; FRAGILE X..
[+]
MARTIN-BELL SYNDROME; MARKER X 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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LEOPARD syndrome
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Multiple lentigines syndrome (disorder); Moynahan ..
[+]
Multiple lentigines syndrome (disorder); Moynahan syndrome; Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Cardiocutaneous syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Progressive cardiomyopathic lentiginosis
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n_a
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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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parietal lobe neoplasm
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malignant neoplasm of parietal lobe; tumor of Pari..
[+]
malignant neoplasm of parietal lobe; tumor of Parietal Lobe
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A cerebrum cancer that is located_in the parietal .. [+]
A cerebrum cancer that is located_in the parietal lobe.
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sphenoidal sinus cancer
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malignant tumor of sphenoid sinus; malignant tumor..
[+]
malignant tumor of sphenoid sinus; malignant tumor of Sphenoidal sinus; malignant tumor of sphenoid sinus (disorder)
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n_a
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disease of metabolism
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metabolic disease
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A disease that involving errors in metabolic proce.. [+]
A disease that involving errors in metabolic processes of building or degradation of molecules.
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branchiootorenal syndrome
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Melnick-Fraser syndrome; Melnick-Fraser syndrome (..
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Melnick-Fraser syndrome; Melnick-Fraser syndrome (disorder); Branchio-Oto-renal syndrome; Branchio-otorenal dysplasia; branchiootorenal dysplasia
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A syndrome characterized by branchial arch anomali.. [+]
A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.
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centronuclear myopathy
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myotubular myopathy
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A myopathy characterized by abnormally located nu.. [+]
A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
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beta-ketothiolase deficiency
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Mitochondrial acetoacetyl-CoA Thiolase deficiency; ..
[+]
Mitochondrial acetoacetyl-CoA Thiolase deficiency; 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; peroxisomal thiolase deficiency (disorder); peroxisomal thiolase deficiency
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An amino acid metabolic disorder characterized by .. [+]
An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.
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calcaneonavicular coalition
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Multiple synostosis syndrome (disorder); SYNOSTOSE..
[+]
Multiple synostosis syndrome (disorder); SYNOSTOSES, TARSAL, CARPAL AND DIGITAL
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A synostosis characterized by the fusion of carpal.. [+]
A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.
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