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systemic Epstein-Barr virus positive T-cell lymphoma of childhood
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DOID_0070324 |
[A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood.] |
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congenital disorder of deglycosylation 2
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DOID_0060990 |
[A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24.] |
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miliaria crystallina
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DOID_0070321 |
[A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum.] |
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carbohydrate metabolic disorder
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DOID_2978 |
[An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.] |
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childhood hepatocellular carcinoma
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DOID_0070322 |
[A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.] |
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bent bone dysplasia syndrome 1
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DOID_0060992 |
[A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.] |
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dizziness
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SYMP_0000610 |
[A balance symptom that is characterized by a sensation of unsteadiness accompanied by a feeling of movement within the head.] |
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mitochondrial DNA depletion syndrome
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DOID_0070329 |
[A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.] |
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main group molecular entity
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CHEBI_33579 |
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molecular entity
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CHEBI_23367 |
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exanthema
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SYMP_0000629 |
[A rash characterized by a widespread skin eruption usually occurring in children that is a symptom of a more general disease.] |
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rash
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SYMP_0000487 |
[A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface.] |
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disturbed vision
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SYMP_0000627 |
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carboxylic acid
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CHEBI_33575 |
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organic acid
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CHEBI_64709 |
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carbon oxoacid
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CHEBI_35605 |
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conscious disturbance
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SYMP_0000625 |
[An alteration of consciousness that is characterized by a disturbance in sentience (the ability to experience feelings and sensations) or awareness of one's internal and external existence, i.e. inhibited or absent self-awareness.] |
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acute mesenteric lymphadenitis
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SYMP_0000622 |
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acute renal failure
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SYMP_0000623 |
[A renal failure that is characterized by a severe and sudden onset of renal failure.] |
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renal failure
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SYMP_0000731 |
[A urinary system symptom that is characterized by a loss of excretory function in one or both kidneys, leading to retention of nitrogenous waste products from the blood.] |