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rntc

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ncbi_disease_knowledge_0_shots_train

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The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. Useful knowledge : ||| Mutational analysis definition: The identification of genetic variation in a biological sample. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlation definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| X-linked adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output:

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with @@X-linked adrenoleukodystrophy##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. Useful knowledge : ||| Mutational analysis definition: The identification of genetic variation in a biological sample. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlation definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| X-linked adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output: [/INST] Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with @@X-linked adrenoleukodystrophy##.

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with @@X-linked adrenoleukodystrophy##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency. Useful knowledge : ||| BACKGROUND definition: Existing conditions, especially those that would be confused with the phenomenon to be observed or measured. ||| X-linked adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| inherited definition: Transmitted through genes from parents to offspring. (genome.gov) ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| progressive definition: Advancing in extent or severity. ||| neurologic dysfunction definition: None ||| associated with definition: Joined in some kind of relationship. ||| adrenal insufficiency definition: Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS. ||| Output:

BACKGROUND @@X-linked adrenoleukodystrophy## (@@ALD##) is an @@inherited disease## characterized by progressive @@neurologic dysfunction##, occasionally associated with @@adrenal insufficiency##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency. Useful knowledge : ||| BACKGROUND definition: Existing conditions, especially those that would be confused with the phenomenon to be observed or measured. ||| X-linked adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| inherited definition: Transmitted through genes from parents to offspring. (genome.gov) ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| progressive definition: Advancing in extent or severity. ||| neurologic dysfunction definition: None ||| associated with definition: Joined in some kind of relationship. ||| adrenal insufficiency definition: Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS. ||| Output: [/INST] BACKGROUND @@X-linked adrenoleukodystrophy## (@@ALD##) is an @@inherited disease## characterized by progressive @@neurologic dysfunction##, occasionally associated with @@adrenal insufficiency##.

BACKGROUND @@X-linked adrenoleukodystrophy## (@@ALD##) is an @@inherited disease## characterized by progressive @@neurologic dysfunction##, occasionally associated with @@adrenal insufficiency##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state. Useful knowledge : ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| childhood definition: A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence. ||| childhood cerebral ALD definition: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. ||| neurologic definition: Pertaining to nerves or the nervous system. ||| deterioration definition: A symptom or state of reduced quality or strength. ||| vegetative state definition: Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). [] ||| Output:

The classic form of @@ALD## usually has onset in childhood (@@childhood cerebral ALD##), with rapid @@neurologic deterioration## leading to a vegetative state.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state. Useful knowledge : ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| childhood definition: A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence. ||| childhood cerebral ALD definition: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. ||| neurologic definition: Pertaining to nerves or the nervous system. ||| deterioration definition: A symptom or state of reduced quality or strength. ||| vegetative state definition: Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). [] ||| Output: [/INST] The classic form of @@ALD## usually has onset in childhood (@@childhood cerebral ALD##), with rapid @@neurologic deterioration## leading to a vegetative state.

The classic form of @@ALD## usually has onset in childhood (@@childhood cerebral ALD##), with rapid @@neurologic deterioration## leading to a vegetative state.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction. Useful knowledge : ||| Adult-onset definition: A progressive neurodegenerative disorder affecting upper motor neurons, characterized by progressive muscle weakness. ||| cerebral ALD definition: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. ||| progressive definition: Advancing in extent or severity. ||| neurologic dysfunction definition: None ||| Output:

Adult-onset @@cerebral ALD## also presents with rapidly progressive @@neurologic dysfunction##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Adult-onset cerebral ALD also presents with rapidly progressive neurologic dysfunction. Useful knowledge : ||| Adult-onset definition: A progressive neurodegenerative disorder affecting upper motor neurons, characterized by progressive muscle weakness. ||| cerebral ALD definition: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. ||| progressive definition: Advancing in extent or severity. ||| neurologic dysfunction definition: None ||| Output: [/INST] Adult-onset @@cerebral ALD## also presents with rapidly progressive @@neurologic dysfunction##.

Adult-onset @@cerebral ALD## also presents with rapidly progressive @@neurologic dysfunction##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized. Useful knowledge : ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| adrenomyeloneuropathy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Addison disease definition: An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES. ||| Output:

Milder phenotypes such as @@adrenomyeloneuropathy## and @@Addison disease## only also have been recognized.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized. Useful knowledge : ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| adrenomyeloneuropathy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Addison disease definition: An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES. ||| Output: [/INST] Milder phenotypes such as @@adrenomyeloneuropathy## and @@Addison disease## only also have been recognized.

Milder phenotypes such as @@adrenomyeloneuropathy## and @@Addison disease## only also have been recognized.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Despite discovery of the causative gene, a molecular basis for the diverse clinical presentations remains to be elucidated. Useful knowledge : ||| discovery definition: See for the first time; identify. ||| causative gene definition: <p>Definition: A factor, such as a microorganism, chemical substance, or form of radiation, whose presence, excessive presence, or (in deficiency diseases) relative absence is essential, in whole or in part, for the occurrence of a condition.</p><p>Constraint: The use of this participation is limited to observations.</p> ||| molecular basis definition: Relating to or produced by or consisting of molecules. ||| diverse definition: Variety; quality, state, fact, or instance of being different. ||| clinical presentations definition: To show or display; the act of presenting something to sight or view: how something looks. ||| Output:

Despite discovery of the causative gene, a molecular basis for the diverse clinical presentations remains to be elucidated.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Despite discovery of the causative gene, a molecular basis for the diverse clinical presentations remains to be elucidated. Useful knowledge : ||| discovery definition: See for the first time; identify. ||| causative gene definition: <p>Definition: A factor, such as a microorganism, chemical substance, or form of radiation, whose presence, excessive presence, or (in deficiency diseases) relative absence is essential, in whole or in part, for the occurrence of a condition.</p><p>Constraint: The use of this participation is limited to observations.</p> ||| molecular basis definition: Relating to or produced by or consisting of molecules. ||| diverse definition: Variety; quality, state, fact, or instance of being different. ||| clinical presentations definition: To show or display; the act of presenting something to sight or view: how something looks. ||| Output: [/INST] Despite discovery of the causative gene, a molecular basis for the diverse clinical presentations remains to be elucidated.

Despite discovery of the causative gene, a molecular basis for the diverse clinical presentations remains to be elucidated.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: OBJECTIVES To conduct mutational analyses in 29 Japanese patients with ALD from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients. Useful knowledge : ||| OBJECTIVES definition: The end-result or objective, which may be specified or required in advance. ||| mutational analyses definition: Biochemical identification of mutational changes in a nucleotide sequence. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| families definition: A social group consisting of parents or parent substitutes and children. ||| knowledge definition: The body of truths or facts accumulated in the course of time, the cumulated sum of information, its volume and nature, in any civilization, period, or country. ||| spectrum definition: A charted band of wavelengths of electromagnetic vibrations. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

OBJECTIVES To conduct mutational analyses in 29 Japanese patients with @@ALD## from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: OBJECTIVES To conduct mutational analyses in 29 Japanese patients with ALD from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients. Useful knowledge : ||| OBJECTIVES definition: The end-result or objective, which may be specified or required in advance. ||| mutational analyses definition: Biochemical identification of mutational changes in a nucleotide sequence. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| families definition: A social group consisting of parents or parent substitutes and children. ||| knowledge definition: The body of truths or facts accumulated in the course of time, the cumulated sum of information, its volume and nature, in any civilization, period, or country. ||| spectrum definition: A charted band of wavelengths of electromagnetic vibrations. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output: [/INST] OBJECTIVES To conduct mutational analyses in 29 Japanese patients with @@ALD## from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients.

OBJECTIVES To conduct mutational analyses in 29 Japanese patients with @@ALD## from 29 unrelated families, to obtain knowledge of the spectrum of mutations in this gene, and to study genotype-phenotype correlations in Japanese patients.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: METHODS The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy. Useful knowledge : ||| METHODS definition: A series of steps taken in order to conduct research. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| childhood cerebral ALD definition: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| adrenomyeloneuropathy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output:

METHODS The 29 patients comprised 13 patients with @@childhood cerebral ALD##, 11 patients with adult-onset @@cerebral ALD##, and 5 patients with @@adrenomyeloneuropathy##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: METHODS The 29 patients comprised 13 patients with childhood cerebral ALD, 11 patients with adult-onset cerebral ALD, and 5 patients with adrenomyeloneuropathy. Useful knowledge : ||| METHODS definition: A series of steps taken in order to conduct research. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| childhood cerebral ALD definition: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| adrenomyeloneuropathy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output: [/INST] METHODS The 29 patients comprised 13 patients with @@childhood cerebral ALD##, 11 patients with adult-onset @@cerebral ALD##, and 5 patients with @@adrenomyeloneuropathy##.

METHODS The 29 patients comprised 13 patients with @@childhood cerebral ALD##, 11 patients with adult-onset @@cerebral ALD##, and 5 patients with @@adrenomyeloneuropathy##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes. Useful knowledge : ||| mutational analyses definition: Biochemical identification of mutational changes in a nucleotide sequence. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| genomic Southern blot analysis definition: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES. ||| direct nucleotide sequence analysis definition: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. ||| reverse transcriptase-polymerase chain reaction products definition: A laboratory procedure in which an RNA strand is first transcribed into a DNA complement and then subjected to PCR amplification. Transcribing an RNA strand into a DNA complement is termed reverse transcription and is done by the enzyme reverse transcriptase. ||| RNA definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| cultured skin definition: A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. ||| lymphoblastoid cells definition: An immature lymphocyte that has enlarged in response to antigenic stimulation. ||| peripheral blood leukocytes definition: White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). ||| Output:

We conducted detailed mutational analyses of 29 unrelated Japanese patients with @@ALD## by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes. Useful knowledge : ||| mutational analyses definition: Biochemical identification of mutational changes in a nucleotide sequence. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| genomic Southern blot analysis definition: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES. ||| direct nucleotide sequence analysis definition: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. ||| reverse transcriptase-polymerase chain reaction products definition: A laboratory procedure in which an RNA strand is first transcribed into a DNA complement and then subjected to PCR amplification. Transcribing an RNA strand into a DNA complement is termed reverse transcription and is done by the enzyme reverse transcriptase. ||| RNA definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| cultured skin definition: A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. ||| lymphoblastoid cells definition: An immature lymphocyte that has enlarged in response to antigenic stimulation. ||| peripheral blood leukocytes definition: White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). ||| Output: [/INST] We conducted detailed mutational analyses of 29 unrelated Japanese patients with @@ALD## by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes.

We conducted detailed mutational analyses of 29 unrelated Japanese patients with @@ALD## by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase-polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts, lymphoblastoid cells, or peripheral blood leukocytes.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: RESULTS Three patients with adult-onset cerebral ALD were identified as having large genomic rearrangements. Useful knowledge : ||| RESULTS definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| identified definition: The procedure of having an identity established. ||| genomic rearrangements definition: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. ||| Output:

RESULTS Three patients with adult-onset @@cerebral ALD## were identified as having large genomic rearrangements.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: RESULTS Three patients with adult-onset cerebral ALD were identified as having large genomic rearrangements. Useful knowledge : ||| RESULTS definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| identified definition: The procedure of having an identity established. ||| genomic rearrangements definition: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. ||| Output: [/INST] RESULTS Three patients with adult-onset @@cerebral ALD## were identified as having large genomic rearrangements.

RESULTS Three patients with adult-onset @@cerebral ALD## were identified as having large genomic rearrangements.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the ALD gene. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| identified definition: The procedure of having an identity established. ||| independent definition: Freedom from control or influence of another or others factors. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| novel definition: Having no previous example or precedent or parallel; of a kind not seen before. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| small nucleotide definition: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed) ||| ALD gene definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output:

The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the @@ALD## gene.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the ALD gene. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| identified definition: The procedure of having an identity established. ||| independent definition: Freedom from control or influence of another or others factors. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| novel definition: Having no previous example or precedent or parallel; of a kind not seen before. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| small nucleotide definition: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed) ||| ALD gene definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output: [/INST] The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the @@ALD## gene.

The remaining 26 patients were identified as having 21 independent mutations, including 12 novel mutations resulting in small nucleotide alterations in the @@ALD## gene.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Eighteen (69%) of 26 mutations were missense mutations. Useful knowledge : ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| Output:

Eighteen (69%) of 26 mutations were missense mutations.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Eighteen (69%) of 26 mutations were missense mutations. Useful knowledge : ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| Output: [/INST] Eighteen (69%) of 26 mutations were missense mutations.

Eighteen (69%) of 26 mutations were missense mutations.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Most missense mutations involved amino acids conserved in homologous gene products, including PMP70, mALDRP, and Pxa1p. Useful knowledge : ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| amino acids definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| homologous gene products definition: A gene from one species which corresponds to a gene in another species and that is related via a common ancestral species. These genes retain a similar sequence and function. ||| PMP70 definition: None ||| Output:

Most missense mutations involved amino acids conserved in homologous gene products, including PMP70, mALDRP, and Pxa1p.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Most missense mutations involved amino acids conserved in homologous gene products, including PMP70, mALDRP, and Pxa1p. Useful knowledge : ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| amino acids definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| homologous gene products definition: A gene from one species which corresponds to a gene in another species and that is related via a common ancestral species. These genes retain a similar sequence and function. ||| PMP70 definition: None ||| Output: [/INST] Most missense mutations involved amino acids conserved in homologous gene products, including PMP70, mALDRP, and Pxa1p.

Most missense mutations involved amino acids conserved in homologous gene products, including PMP70, mALDRP, and Pxa1p.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The AG dinucleotide deletion at position 1081-1082, which has been reported previously to be the most common mutation in white patients (12% -17%), was also identified as the most common mutation in Japanese patients (12%). Useful knowledge : ||| AG dinucleotide deletion definition: A group of compounds which consist of a nucleotide molecule to which an additional nucleoside is attached through the phosphate molecule(s). The nucleotide can contain any number of phosphates. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| white patients definition: A group distinguished by classification according to physical features. This group, also called Europoid, centers around the Mediterranean Sea but includes other parts of Europe. (from Winick: Dictionary of Anthropology, 1972; American Heritage Dictionary, 2d College ed) ||| identified definition: The procedure of having an identity established. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

The AG dinucleotide deletion at position 1081-1082, which has been reported previously to be the most common mutation in white patients (12% -17%), was also identified as the most common mutation in Japanese patients (12%).

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The AG dinucleotide deletion at position 1081-1082, which has been reported previously to be the most common mutation in white patients (12% -17%), was also identified as the most common mutation in Japanese patients (12%). Useful knowledge : ||| AG dinucleotide deletion definition: A group of compounds which consist of a nucleotide molecule to which an additional nucleoside is attached through the phosphate molecule(s). The nucleotide can contain any number of phosphates. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| white patients definition: A group distinguished by classification according to physical features. This group, also called Europoid, centers around the Mediterranean Sea but includes other parts of Europe. (from Winick: Dictionary of Anthropology, 1972; American Heritage Dictionary, 2d College ed) ||| identified definition: The procedure of having an identity established. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output: [/INST] The AG dinucleotide deletion at position 1081-1082, which has been reported previously to be the most common mutation in white patients (12% -17%), was also identified as the most common mutation in Japanese patients (12%).

The AG dinucleotide deletion at position 1081-1082, which has been reported previously to be the most common mutation in white patients (12% -17%), was also identified as the most common mutation in Japanese patients (12%).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes. Useful knowledge : ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| associated with definition: Joined in some kind of relationship. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| protein truncation definition: Termination of the translation process at a stop codon. ||| amino acid definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| changes definition: The act of alteration or modification; changed or altered in form or character. ||| Output:

All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes. Useful knowledge : ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| associated with definition: Joined in some kind of relationship. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| protein truncation definition: Termination of the translation process at a stop codon. ||| amino acid definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| changes definition: The act of alteration or modification; changed or altered in form or character. ||| Output: [/INST] All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes.

All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids. Useful knowledge : ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| expressions definition: An expulsion done by manipulation ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| amino acids definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| Output:

There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids. Useful knowledge : ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| expressions definition: An expulsion done by manipulation ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| amino acids definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| Output: [/INST] There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids.

There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD.. Useful knowledge : ||| CONCLUSIONS definition: A position or opinion or judgment reached after consideration. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| genotypes definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| genetic definition: Having to do with information that is passed from parents to offspring through genes in sperm and egg cells. ||| environmental factors definition: Environmental factors considered as variables in disease incident, transmission, and control. ||| modify definition: <p>Change the status of an object representing an Act.</p> ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output:

CONCLUSIONS There are no obvious correlations between the phenotypes of patients with @@ALD## and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of @@ALD##..

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD.. Useful knowledge : ||| CONCLUSIONS definition: A position or opinion or judgment reached after consideration. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| genotypes definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| genetic definition: Having to do with information that is passed from parents to offspring through genes in sperm and egg cells. ||| environmental factors definition: Environmental factors considered as variables in disease incident, transmission, and control. ||| modify definition: <p>Change the status of an object representing an Act.</p> ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output: [/INST] CONCLUSIONS There are no obvious correlations between the phenotypes of patients with @@ALD## and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of @@ALD##..

CONCLUSIONS There are no obvious correlations between the phenotypes of patients with @@ALD## and their genotypes, suggesting that other genetic or environmental factors modify the phenotypic expressions of @@ALD##..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. Useful knowledge : ||| Absence definition: Not existing in a specified place at a specified time. ||| complement definition: The complement system is a complex system of serum proteins that interact in a cascade. Many of the early components are serine proteases that activate each other sequentially. This complement system consists of three separate activation triggers: (1) Ab binding to a cell surface, (2) formation of immune complexes, and (3) a carbohydrate component of a microbe's cell membrane. Along with this triggers, there are also two sets of mechanisms. Both of these mechanisms, classical pathway and alternative or properdin pathway, make MAC (Membrane Attack Complex), which can lyse and destroy the cell. ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| chronic meningococcemia definition: None ||| vasculitis definition: Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body. ||| Output:

@@Absence of the seventh component of complement## in a patient with @@chronic meningococcemia## presenting as @@vasculitis##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis. Useful knowledge : ||| Absence definition: Not existing in a specified place at a specified time. ||| complement definition: The complement system is a complex system of serum proteins that interact in a cascade. Many of the early components are serine proteases that activate each other sequentially. This complement system consists of three separate activation triggers: (1) Ab binding to a cell surface, (2) formation of immune complexes, and (3) a carbohydrate component of a microbe's cell membrane. Along with this triggers, there are also two sets of mechanisms. Both of these mechanisms, classical pathway and alternative or properdin pathway, make MAC (Membrane Attack Complex), which can lyse and destroy the cell. ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| chronic meningococcemia definition: None ||| vasculitis definition: Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body. ||| Output: [/INST] @@Absence of the seventh component of complement## in a patient with @@chronic meningococcemia## presenting as @@vasculitis##.

@@Absence of the seventh component of complement## in a patient with @@chronic meningococcemia## presenting as @@vasculitis##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia. Useful knowledge : ||| healthy definition: Having no significant health-related issues. ||| man definition: Human males as cultural, psychological, sociological, political, and economic entities. ||| fever definition: An abnormal elevation of body temperature, usually as a result of a pathologic process. ||| arthritis definition: Acute or chronic inflammation of JOINTS. ||| cutaneous vasculitis definition: Inflammation of the blood vessel wall characterized by palpable purpura. ||| chronic meningococcemia definition: None ||| Output:

A previously healthy 40-year-old man presenting with @@fever##, @@arthritis##, and @@cutaneous vasculitis## was found to have @@chronic meningococcemia##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A previously healthy 40-year-old man presenting with fever, arthritis, and cutaneous vasculitis was found to have chronic meningococcemia. Useful knowledge : ||| healthy definition: Having no significant health-related issues. ||| man definition: Human males as cultural, psychological, sociological, political, and economic entities. ||| fever definition: An abnormal elevation of body temperature, usually as a result of a pathologic process. ||| arthritis definition: Acute or chronic inflammation of JOINTS. ||| cutaneous vasculitis definition: Inflammation of the blood vessel wall characterized by palpable purpura. ||| chronic meningococcemia definition: None ||| Output: [/INST] A previously healthy 40-year-old man presenting with @@fever##, @@arthritis##, and @@cutaneous vasculitis## was found to have @@chronic meningococcemia##.

A previously healthy 40-year-old man presenting with @@fever##, @@arthritis##, and @@cutaneous vasculitis## was found to have @@chronic meningococcemia##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Evaluation of his complement system showed an absence of functional and antigenic C7, compatible with a complete deficiency of the seventh component of complement. Useful knowledge : ||| Evaluation definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| complement system definition: The complement system is a complex system of serum proteins that interact in a cascade. Many of the early components are serine proteases that activate each other sequentially. This complement system consists of three separate activation triggers: (1) Ab binding to a cell surface, (2) formation of immune complexes, and (3) a carbohydrate component of a microbe's cell membrane. Along with this triggers, there are also two sets of mechanisms. Both of these mechanisms, classical pathway and alternative or properdin pathway, make MAC (Membrane Attack Complex), which can lyse and destroy the cell. ||| absence definition: Not existing in a specified place at a specified time. ||| functional definition: None ||| deficiency definition: None ||| complement definition: The complement system is a complex system of serum proteins that interact in a cascade. Many of the early components are serine proteases that activate each other sequentially. This complement system consists of three separate activation triggers: (1) Ab binding to a cell surface, (2) formation of immune complexes, and (3) a carbohydrate component of a microbe's cell membrane. Along with this triggers, there are also two sets of mechanisms. Both of these mechanisms, classical pathway and alternative or properdin pathway, make MAC (Membrane Attack Complex), which can lyse and destroy the cell. ||| Output:

Evaluation of his complement system showed an absence of functional and antigenic C7, compatible with a complete @@deficiency of the seventh component of complement##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Evaluation of his complement system showed an absence of functional and antigenic C7, compatible with a complete deficiency of the seventh component of complement. Useful knowledge : ||| Evaluation definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| complement system definition: The complement system is a complex system of serum proteins that interact in a cascade. Many of the early components are serine proteases that activate each other sequentially. This complement system consists of three separate activation triggers: (1) Ab binding to a cell surface, (2) formation of immune complexes, and (3) a carbohydrate component of a microbe's cell membrane. Along with this triggers, there are also two sets of mechanisms. Both of these mechanisms, classical pathway and alternative or properdin pathway, make MAC (Membrane Attack Complex), which can lyse and destroy the cell. ||| absence definition: Not existing in a specified place at a specified time. ||| functional definition: None ||| deficiency definition: None ||| complement definition: The complement system is a complex system of serum proteins that interact in a cascade. Many of the early components are serine proteases that activate each other sequentially. This complement system consists of three separate activation triggers: (1) Ab binding to a cell surface, (2) formation of immune complexes, and (3) a carbohydrate component of a microbe's cell membrane. Along with this triggers, there are also two sets of mechanisms. Both of these mechanisms, classical pathway and alternative or properdin pathway, make MAC (Membrane Attack Complex), which can lyse and destroy the cell. ||| Output: [/INST] Evaluation of his complement system showed an absence of functional and antigenic C7, compatible with a complete @@deficiency of the seventh component of complement##.

Evaluation of his complement system showed an absence of functional and antigenic C7, compatible with a complete @@deficiency of the seventh component of complement##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Study of the patients family spanning four generations showed heterozygous deficiency of C7 in five members. Useful knowledge : ||| Study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| generations definition: A single step in the line of descent from a common ancestor. ||| heterozygous deficiency definition: An individual having different alleles at one or more loci regarding a specific character. ||| C7 definition: None ||| members definition: One of the persons who compose a social group, especially an individual who has joined and participates in a group organization. ||| Output:

Study of the patients family spanning four generations showed heterozygous @@deficiency of C7## in five members.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Study of the patients family spanning four generations showed heterozygous deficiency of C7 in five members. Useful knowledge : ||| Study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| generations definition: A single step in the line of descent from a common ancestor. ||| heterozygous deficiency definition: An individual having different alleles at one or more loci regarding a specific character. ||| C7 definition: None ||| members definition: One of the persons who compose a social group, especially an individual who has joined and participates in a group organization. ||| Output: [/INST] Study of the patients family spanning four generations showed heterozygous @@deficiency of C7## in five members.

Study of the patients family spanning four generations showed heterozygous @@deficiency of C7## in five members.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis.. Useful knowledge : ||| Chronic neisserial infection definition: Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. [] ||| associated with definition: Joined in some kind of relationship. ||| C7 deficiency definition: None ||| cutaneous vasculitis definition: Inflammation of the blood vessel wall characterized by palpable purpura. ||| Output:

@@Chronic neisserial infection## can be associated with @@C7 deficiency## and must be distinguished from other causes of @@cutaneous vasculitis##..

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Chronic neisserial infection can be associated with C7 deficiency and must be distinguished from other causes of cutaneous vasculitis.. Useful knowledge : ||| Chronic neisserial infection definition: Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. [] ||| associated with definition: Joined in some kind of relationship. ||| C7 deficiency definition: None ||| cutaneous vasculitis definition: Inflammation of the blood vessel wall characterized by palpable purpura. ||| Output: [/INST] @@Chronic neisserial infection## can be associated with @@C7 deficiency## and must be distinguished from other causes of @@cutaneous vasculitis##..

@@Chronic neisserial infection## can be associated with @@C7 deficiency## and must be distinguished from other causes of @@cutaneous vasculitis##..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Useful knowledge : ||| Genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| dihydropyrimidine dehydrogenase deficiency definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| Output:

Genotype and phenotype in patients with @@dihydropyrimidine dehydrogenase deficiency##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Useful knowledge : ||| Genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| dihydropyrimidine dehydrogenase deficiency definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| Output: [/INST] Genotype and phenotype in patients with @@dihydropyrimidine dehydrogenase deficiency##.

Genotype and phenotype in patients with @@dihydropyrimidine dehydrogenase deficiency##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. Useful knowledge : ||| Dihydropyrimidine dehydrogenase definition: An oxidoreductase involved in pyrimidine base degradation. It catalyzes the catabolism of THYMINE; URACIL and the chemotherapeutic drug, 5-FLUOROURACIL. ||| autosomal recessive disease definition: An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). ||| thymine-uraciluria definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| deficient definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| associated with definition: Joined in some kind of relationship. ||| clinical definition: Relating to the examination and treatment of patients dependent on direct observation. The term may also refer to the institution (clinic) providing this activity. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

@@Dihydropyrimidine dehydrogenase (DPD) deficiency## is an @@autosomal recessive disease## characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype. Useful knowledge : ||| Dihydropyrimidine dehydrogenase definition: An oxidoreductase involved in pyrimidine base degradation. It catalyzes the catabolism of THYMINE; URACIL and the chemotherapeutic drug, 5-FLUOROURACIL. ||| autosomal recessive disease definition: An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). ||| thymine-uraciluria definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| deficient definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| associated with definition: Joined in some kind of relationship. ||| clinical definition: Relating to the examination and treatment of patients dependent on direct observation. The term may also refer to the institution (clinic) providing this activity. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output: [/INST] @@Dihydropyrimidine dehydrogenase (DPD) deficiency## is an @@autosomal recessive disease## characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.

@@Dihydropyrimidine dehydrogenase (DPD) deficiency## is an @@autosomal recessive disease## characterised by thymine-uraciluria in homozygous deficient patients and has been associated with a variable clinical phenotype.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. Useful knowledge : ||| genetic definition: Having to do with information that is passed from parents to offspring through genes in sperm and egg cells. ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| DPD deficiency definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| reviewed definition: An article or book published after examination of published material on a subject. It may be comprehensive to various degrees and the time range of material scrutinized may be broad or narrow, but the reviews most often desired are reviews of the current literature. The textual material examined may be equally broad and can encompass, in medicine specifically, clinical material as well as experimental research or case reports. State-of-the-art reviews tend to address more current matters. A review of the literature must be differentiated from HISTORICAL ARTICLE on the same subject, but a review of historical literature is also within the scope of this publication type. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| deficiency definition: None ||| DPD definition: Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+. [EC:1.3.1.2] ||| Output:

In order to understand the genetic and phenotypic basis for @@DPD deficiency##, we have reviewed 17 families presenting 22 patients with complete @@deficiency of DPD##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In order to understand the genetic and phenotypic basis for DPD deficiency, we have reviewed 17 families presenting 22 patients with complete deficiency of DPD. Useful knowledge : ||| genetic definition: Having to do with information that is passed from parents to offspring through genes in sperm and egg cells. ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| DPD deficiency definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| reviewed definition: An article or book published after examination of published material on a subject. It may be comprehensive to various degrees and the time range of material scrutinized may be broad or narrow, but the reviews most often desired are reviews of the current literature. The textual material examined may be equally broad and can encompass, in medicine specifically, clinical material as well as experimental research or case reports. State-of-the-art reviews tend to address more current matters. A review of the literature must be differentiated from HISTORICAL ARTICLE on the same subject, but a review of historical literature is also within the scope of this publication type. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| deficiency definition: None ||| DPD definition: Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+. [EC:1.3.1.2] ||| Output: [/INST] In order to understand the genetic and phenotypic basis for @@DPD deficiency##, we have reviewed 17 families presenting 22 patients with complete @@deficiency of DPD##.

In order to understand the genetic and phenotypic basis for @@DPD deficiency##, we have reviewed 17 families presenting 22 patients with complete @@deficiency of DPD##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14 + 1G > A)] and 4 missense mutations (85T > C, 703C > T, 2658G > A, 2983G > T). Useful knowledge : ||| group definition: Any number of entities (members) considered as a unit. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| identified definition: The procedure of having an identity established. ||| deletions definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. ||| splice-site mutation definition: Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message. ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| Output:

In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14 + 1G > A)] and 4 missense mutations (85T > C, 703C > T, 2658G > A, 2983G > T).

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14 + 1G > A)] and 4 missense mutations (85T > C, 703C > T, 2658G > A, 2983G > T). Useful knowledge : ||| group definition: Any number of entities (members) considered as a unit. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| identified definition: The procedure of having an identity established. ||| deletions definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. ||| splice-site mutation definition: Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message. ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| Output: [/INST] In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14 + 1G > A)] and 4 missense mutations (85T > C, 703C > T, 2658G > A, 2983G > T).

In this group of patients, 7 different mutations have been identified, including 2 deletions [295-298delTCAT, 1897delC], 1 splice-site mutation [IVS14 + 1G > A)] and 4 missense mutations (85T > C, 703C > T, 2658G > A, 2983G > T).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Analysis of the prevalence of the various mutations among DPD patients has shown that the G-- > A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed. Useful knowledge : ||| Analysis definition: None ||| prevalence definition: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| DPD definition: Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+. [EC:1.3.1.2] ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| invariant splice donor site definition: An inherited single base change at a donor splice site in a genomic DNA sequence that results in an allelic variant of the wild-type gene. Donor splice sites are located at exon to intron junctions at the 5' end of the intron. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| observed definition: Ascertained or determined through monitoring or observation. ||| Output:

Analysis of the prevalence of the various mutations among @@DPD## patients has shown that the G-- > A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Analysis of the prevalence of the various mutations among DPD patients has shown that the G-- > A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed. Useful knowledge : ||| Analysis definition: None ||| prevalence definition: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| DPD definition: Catalysis of the reaction: 5,6-dihydrouracil + NADP+ = uracil + NADPH + H+. [EC:1.3.1.2] ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| invariant splice donor site definition: An inherited single base change at a donor splice site in a genomic DNA sequence that results in an allelic variant of the wild-type gene. Donor splice sites are located at exon to intron junctions at the 5' end of the intron. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| observed definition: Ascertained or determined through monitoring or observation. ||| Output: [/INST] Analysis of the prevalence of the various mutations among @@DPD## patients has shown that the G-- > A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.

Analysis of the prevalence of the various mutations among @@DPD## patients has shown that the G-- > A point mutation in the invariant splice donor site is by far the most common (52%), whereas the other six mutations are less frequently observed.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations. Useful knowledge : ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| variability definition: None ||| observed definition: Ascertained or determined through monitoring or observation. ||| convulsive disorders definition: None ||| motor retardation definition: None ||| mental retardation definition: A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. ||| abundant definition: Relative degree of plentifulness. ||| manifestations definition: None ||| Output:

A large phenotypic variability has been observed, with @@convulsive disorders##, @@motor retardation## and @@mental retardation## being the most abundant manifestations.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A large phenotypic variability has been observed, with convulsive disorders, motor retardation and mental retardation being the most abundant manifestations. Useful knowledge : ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| variability definition: None ||| observed definition: Ascertained or determined through monitoring or observation. ||| convulsive disorders definition: None ||| motor retardation definition: None ||| mental retardation definition: A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. ||| abundant definition: Relative degree of plentifulness. ||| manifestations definition: None ||| Output: [/INST] A large phenotypic variability has been observed, with @@convulsive disorders##, @@motor retardation## and @@mental retardation## being the most abundant manifestations.

A large phenotypic variability has been observed, with @@convulsive disorders##, @@motor retardation## and @@mental retardation## being the most abundant manifestations.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A clear correlation between the genotype and phenotype has not been established. Useful knowledge : ||| correlation definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

A clear correlation between the genotype and phenotype has not been established.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A clear correlation between the genotype and phenotype has not been established. Useful knowledge : ||| correlation definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output: [/INST] A clear correlation between the genotype and phenotype has not been established.

A clear correlation between the genotype and phenotype has not been established.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency. Useful knowledge : ||| beta-alanine definition: An amino acid formed in vivo by the degradation of dihydrouracil and carnosine. Since neuronal uptake and neuronal receptor sensitivity to beta-alanine have been demonstrated, the compound may be a false transmitter replacing GAMMA-AMINOBUTYRIC ACID. A rare genetic disorder, hyper-beta-alaninemia, has been reported. ||| uracil definition: One of four nucleotide bases in the nucleic acid RNA. ||| thymine definition: One of four constituent bases of DNA. ||| homeostasis definition: The processes whereby the internal environment of an organism tends to remain balanced and stable. ||| clinical abnormalities definition: Malformations of organs or body parts during development in utero. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| DPD deficiency definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| Output:

An altered beta-alanine, uracil and thymine homeostasis might underlie the various @@clinical abnormalities## encountered in patients with @@DPD deficiency##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: An altered beta-alanine, uracil and thymine homeostasis might underlie the various clinical abnormalities encountered in patients with DPD deficiency. Useful knowledge : ||| beta-alanine definition: An amino acid formed in vivo by the degradation of dihydrouracil and carnosine. Since neuronal uptake and neuronal receptor sensitivity to beta-alanine have been demonstrated, the compound may be a false transmitter replacing GAMMA-AMINOBUTYRIC ACID. A rare genetic disorder, hyper-beta-alaninemia, has been reported. ||| uracil definition: One of four nucleotide bases in the nucleic acid RNA. ||| thymine definition: One of four constituent bases of DNA. ||| homeostasis definition: The processes whereby the internal environment of an organism tends to remain balanced and stable. ||| clinical abnormalities definition: Malformations of organs or body parts during development in utero. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| DPD deficiency definition: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. ||| Output: [/INST] An altered beta-alanine, uracil and thymine homeostasis might underlie the various @@clinical abnormalities## encountered in patients with @@DPD deficiency##.

An altered beta-alanine, uracil and thymine homeostasis might underlie the various @@clinical abnormalities## encountered in patients with @@DPD deficiency##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan. Useful knowledge : ||| Molecular characterization definition: The act of describing distinctive characteristics or essential features. ||| glucose-6-phosphate dehydrogenase definition: None ||| natural definition: A description for something that exists in or is produced by nature, and is not artificial or man-made. ||| amplification definition: This technique refers to selectively replicate DNA sequence of interest to multiple extra copies that meet the need of research or health care activity. Polymerase chain reaction (PCR), can be considered a type of man-made gene amplification process. ||| restriction sites definition: A sequence in DNA that can be recognized by a specific restriction enzyme. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| G6PD definition: None ||| deficiency definition: None ||| cases definition: None ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output:

Molecular characterization of @@glucose-6-phosphate dehydrogenase (G6PD) deficiency## by natural and amplification created restriction sites: five mutations account for most @@G6PD deficiency## cases in Taiwan.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan. Useful knowledge : ||| Molecular characterization definition: The act of describing distinctive characteristics or essential features. ||| glucose-6-phosphate dehydrogenase definition: None ||| natural definition: A description for something that exists in or is produced by nature, and is not artificial or man-made. ||| amplification definition: This technique refers to selectively replicate DNA sequence of interest to multiple extra copies that meet the need of research or health care activity. Polymerase chain reaction (PCR), can be considered a type of man-made gene amplification process. ||| restriction sites definition: A sequence in DNA that can be recognized by a specific restriction enzyme. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| G6PD definition: None ||| deficiency definition: None ||| cases definition: None ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output: [/INST] Molecular characterization of @@glucose-6-phosphate dehydrogenase (G6PD) deficiency## by natural and amplification created restriction sites: five mutations account for most @@G6PD deficiency## cases in Taiwan.

Molecular characterization of @@glucose-6-phosphate dehydrogenase (G6PD) deficiency## by natural and amplification created restriction sites: five mutations account for most @@G6PD deficiency## cases in Taiwan.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan. Useful knowledge : ||| rapid definition: Acting or occurring in a brief period of time. ||| diagnose definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| glucose-6-phosphate dehydrogenase definition: None ||| Chinese definition: A family of languages that originated in China. The major dialect is Mandarin. It is the official language of China and Taiwan. ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output:

We have developed a rapid and simple method to diagnose the molecular defects of @@glucose-6-phosphate dehydrogenase (G6PD) deficiency## in Chinese in Taiwan.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan. Useful knowledge : ||| rapid definition: Acting or occurring in a brief period of time. ||| diagnose definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| glucose-6-phosphate dehydrogenase definition: None ||| Chinese definition: A family of languages that originated in China. The major dialect is Mandarin. It is the official language of China and Taiwan. ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output: [/INST] We have developed a rapid and simple method to diagnose the molecular defects of @@glucose-6-phosphate dehydrogenase (G6PD) deficiency## in Chinese in Taiwan.

We have developed a rapid and simple method to diagnose the molecular defects of @@glucose-6-phosphate dehydrogenase (G6PD) deficiency## in Chinese in Taiwan.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. Useful knowledge : ||| method definition: A series of steps taken in order to conduct research. ||| selective amplification definition: This technique refers to selectively replicate DNA sequence of interest to multiple extra copies that meet the need of research or health care activity. Polymerase chain reaction (PCR), can be considered a type of man-made gene amplification process. ||| DNA fragment definition: Splitting the DNA into shorter pieces by endonucleolytic DNA CLEAVAGE at multiple sites. It includes the internucleosomal DNA fragmentation, which along with chromatin condensation, are considered to be the hallmarks of APOPTOSIS. ||| human definition: Members of the species Homo sapiens. ||| G6PD gene definition: This gene plays a role in carbohydrate metabolism. ||| oligonucleotide primers definition: Short DNA oligonucleotide chains used to prime DNA (and in some cases RNA) synthesis. ||| digestion definition: The process of breakdown of food for metabolism and use by the body. ||| restriction enzymes definition: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1. ||| restriction sites definition: A sequence in DNA that can be recognized by a specific restriction enzyme. ||| Output:

This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. Useful knowledge : ||| method definition: A series of steps taken in order to conduct research. ||| selective amplification definition: This technique refers to selectively replicate DNA sequence of interest to multiple extra copies that meet the need of research or health care activity. Polymerase chain reaction (PCR), can be considered a type of man-made gene amplification process. ||| DNA fragment definition: Splitting the DNA into shorter pieces by endonucleolytic DNA CLEAVAGE at multiple sites. It includes the internucleosomal DNA fragmentation, which along with chromatin condensation, are considered to be the hallmarks of APOPTOSIS. ||| human definition: Members of the species Homo sapiens. ||| G6PD gene definition: This gene plays a role in carbohydrate metabolism. ||| oligonucleotide primers definition: Short DNA oligonucleotide chains used to prime DNA (and in some cases RNA) synthesis. ||| digestion definition: The process of breakdown of food for metabolism and use by the body. ||| restriction enzymes definition: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1. ||| restriction sites definition: A sequence in DNA that can be recognized by a specific restriction enzyme. ||| Output: [/INST] This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites.

This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Ninety-four Chinese males with G6PD deficiency were studied. Useful knowledge : ||| males definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| G6PD deficiency definition: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. ||| Output:

Ninety-four Chinese males with @@G6PD deficiency## were studied.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Ninety-four Chinese males with G6PD deficiency were studied. Useful knowledge : ||| males definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| G6PD deficiency definition: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. ||| Output: [/INST] Ninety-four Chinese males with @@G6PD deficiency## were studied.

Ninety-four Chinese males with @@G6PD deficiency## were studied.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| T mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| nucleotide definition: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed) ||| Output:

The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| T mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| nucleotide definition: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed) ||| Output: [/INST] The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21.

The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 3% (20 of 94) were G to A mutation at nt 1388, 7. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

3% (20 of 94) were G to A mutation at nt 1388, 7.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 3% (20 of 94) were G to A mutation at nt 1388, 7. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] 3% (20 of 94) were G to A mutation at nt 1388, 7.

3% (20 of 94) were G to A mutation at nt 1388, 7.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 4% (7 of 94) were A to G mutation at nt 493, 7. Useful knowledge : ||| G mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

4% (7 of 94) were A to G mutation at nt 493, 7.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 4% (7 of 94) were A to G mutation at nt 493, 7. Useful knowledge : ||| G mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] 4% (7 of 94) were A to G mutation at nt 493, 7.

4% (7 of 94) were A to G mutation at nt 493, 7.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 4% (7 of 94) were A to G mutation at nt 95, 4. Useful knowledge : ||| G mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

4% (7 of 94) were A to G mutation at nt 95, 4.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 4% (7 of 94) were A to G mutation at nt 95, 4. Useful knowledge : ||| G mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] 4% (7 of 94) were A to G mutation at nt 95, 4.

4% (7 of 94) were A to G mutation at nt 95, 4.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 2% (4 of 94) were C to T mutation at nt 1024, 1. Useful knowledge : ||| T mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

2% (4 of 94) were C to T mutation at nt 1024, 1.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 2% (4 of 94) were C to T mutation at nt 1024, 1. Useful knowledge : ||| T mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] 2% (4 of 94) were C to T mutation at nt 1024, 1.

2% (4 of 94) were C to T mutation at nt 1024, 1.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1% (1 of 94) was G to T mutation at nt 392, and 1. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| T mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

1% (1 of 94) was G to T mutation at nt 392, and 1.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1% (1 of 94) was G to T mutation at nt 392, and 1. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| T mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] 1% (1 of 94) was G to T mutation at nt 392, and 1.

1% (1 of 94) was G to T mutation at nt 392, and 1.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1% (1 of 94) was G to A mutation at nt 487. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

1% (1 of 94) was G to A mutation at nt 487.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1% (1 of 94) was G to A mutation at nt 487. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] 1% (1 of 94) was G to A mutation at nt 487.

1% (1 of 94) was G to A mutation at nt 487.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| G6PD deficiency definition: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. ||| cases definition: None ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output:

These results show that the former five mutations account for more than 90% of @@G6PD deficiency## cases in Taiwan.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| G6PD deficiency definition: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. ||| cases definition: None ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output: [/INST] These results show that the former five mutations account for more than 90% of @@G6PD deficiency## cases in Taiwan.

These results show that the former five mutations account for more than 90% of @@G6PD deficiency## cases in Taiwan.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| research definition: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed) ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| frequent definition: Coming at short intervals or in great quantities. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Chinese definition: A family of languages that originated in China. The major dialect is Mandarin. It is the official language of China and Taiwan. ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output:

Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan. Useful knowledge : ||| G definition: <p>Deciduous maxillary left lateral incisor tooth; Universal designation G; ISO designation 62</p> ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| research definition: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed) ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| frequent definition: Coming at short intervals or in great quantities. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Chinese definition: A family of languages that originated in China. The major dialect is Mandarin. It is the official language of China and Taiwan. ||| Taiwan definition: Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China. ||| Output: [/INST] Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan.

Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We compared G6PD activity among different mutations, without discovering significant differences between them. Useful knowledge : ||| G6PD definition: None ||| activity definition: Body movements of a human or an animal as a behavioral phenomenon. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

We compared G6PD activity among different mutations, without discovering significant differences between them.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We compared G6PD activity among different mutations, without discovering significant differences between them. Useful knowledge : ||| G6PD definition: None ||| activity definition: Body movements of a human or an animal as a behavioral phenomenon. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] We compared G6PD activity among different mutations, without discovering significant differences between them.

We compared G6PD activity among different mutations, without discovering significant differences between them.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. Useful knowledge : ||| Homozygous definition: An individual in which both alleles at a given locus are identical. ||| hypobetalipoproteinemia definition: Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption. ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| abetalipoproproteinemia definition: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. ||| molecular level definition: quantum mechanical parameter describing subatomic interactions in molecules. ||| Output:

@@Homozygous hypobetalipoproteinemia##: a disease distinct from @@abetalipoproproteinemia## at the molecular level.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. Useful knowledge : ||| Homozygous definition: An individual in which both alleles at a given locus are identical. ||| hypobetalipoproteinemia definition: Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption. ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| abetalipoproproteinemia definition: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. ||| molecular level definition: quantum mechanical parameter describing subatomic interactions in molecules. ||| Output: [/INST] @@Homozygous hypobetalipoproteinemia##: a disease distinct from @@abetalipoproproteinemia## at the molecular level.

@@Homozygous hypobetalipoproteinemia##: a disease distinct from @@abetalipoproproteinemia## at the molecular level.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals. Useful knowledge : ||| apoB DNA definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| RNA definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| protein definition: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| homozygous hypobetalipoproteinemia definition: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| evaluated definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| compared definition: The examination of two or more people or things in order to detect similarities and differences. ||| normal definition: In pathology, a term that is used to describe a tissue specimen that has a normal appearance. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| Output:

apoB DNA, RNA, and protein from two patients with @@homozygous hypobetalipoproteinemia## (@@HBL##) were evaluated and compared with normal individuals.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals. Useful knowledge : ||| apoB DNA definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| RNA definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| protein definition: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| homozygous hypobetalipoproteinemia definition: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| evaluated definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| compared definition: The examination of two or more people or things in order to detect similarities and differences. ||| normal definition: In pathology, a term that is used to describe a tissue specimen that has a normal appearance. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| Output: [/INST] apoB DNA, RNA, and protein from two patients with @@homozygous hypobetalipoproteinemia## (@@HBL##) were evaluated and compared with normal individuals.

apoB DNA, RNA, and protein from two patients with @@homozygous hypobetalipoproteinemia## (@@HBL##) were evaluated and compared with normal individuals.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements. Useful knowledge : ||| Southern blot analysis definition: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES. ||| cDNA definition: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe. ||| probes definition: A device designed to reach into a location for manipulating or sensing. ||| normal gene definition: In pathology, a term that is used to describe a tissue specimen that has a normal appearance. ||| insertions definition: The act of putting one thing into another. ||| deletions definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. ||| rearrangements definition: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. ||| Output:

Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements. Useful knowledge : ||| Southern blot analysis definition: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES. ||| cDNA definition: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe. ||| probes definition: A device designed to reach into a location for manipulating or sensing. ||| normal gene definition: In pathology, a term that is used to describe a tissue specimen that has a normal appearance. ||| insertions definition: The act of putting one thing into another. ||| deletions definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. ||| rearrangements definition: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. ||| Output: [/INST] Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements.

Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Northern and slot blot analyses of total liver mRNA from HBL patients documented a normal size apoB mRNA that was present in greatly reduced quantities. Useful knowledge : ||| Northern definition: One of the four primary cardinal directions. It is at 0 degree on a compass card. It is the direction to the left of sunrise. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| documented definition: Furnished with or supported by documents and documentation. ||| normal size definition: None ||| apoB definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| mRNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| reduced definition: Made less in size or amount or degree. ||| quantities definition: How much there is of something that you can measure; the total amount or number. ||| Output:

Northern and slot blot analyses of total liver mRNA from @@HBL## patients documented a normal size apoB mRNA that was present in greatly reduced quantities.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Northern and slot blot analyses of total liver mRNA from HBL patients documented a normal size apoB mRNA that was present in greatly reduced quantities. Useful knowledge : ||| Northern definition: One of the four primary cardinal directions. It is at 0 degree on a compass card. It is the direction to the left of sunrise. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| documented definition: Furnished with or supported by documents and documentation. ||| normal size definition: None ||| apoB definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| mRNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| reduced definition: Made less in size or amount or degree. ||| quantities definition: How much there is of something that you can measure; the total amount or number. ||| Output: [/INST] Northern and slot blot analyses of total liver mRNA from @@HBL## patients documented a normal size apoB mRNA that was present in greatly reduced quantities.

Northern and slot blot analyses of total liver mRNA from @@HBL## patients documented a normal size apoB mRNA that was present in greatly reduced quantities.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: ApoB protein was detected within HBL hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples. Useful knowledge : ||| ApoB protein definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| detected definition: <p>The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.</p> ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| hepatocytes definition: The main structural component of the LIVER. They are specialized EPITHELIAL CELLS that are organized into interconnected plates called lobules. ||| immunohistochemical techniques definition: Histochemical localization of immunoreactive substances using labeled antibodies as reagents. ||| reduced definition: Made less in size or amount or degree. ||| quantity definition: How much there is of something that you can measure; the total amount or number. ||| compared definition: The examination of two or more people or things in order to detect similarities and differences. ||| Output:

ApoB protein was detected within @@HBL## hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: ApoB protein was detected within HBL hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples. Useful knowledge : ||| ApoB protein definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| detected definition: <p>The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.</p> ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| hepatocytes definition: The main structural component of the LIVER. They are specialized EPITHELIAL CELLS that are organized into interconnected plates called lobules. ||| immunohistochemical techniques definition: Histochemical localization of immunoreactive substances using labeled antibodies as reagents. ||| reduced definition: Made less in size or amount or degree. ||| quantity definition: How much there is of something that you can measure; the total amount or number. ||| compared definition: The examination of two or more people or things in order to detect similarities and differences. ||| Output: [/INST] ApoB protein was detected within @@HBL## hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples.

ApoB protein was detected within @@HBL## hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: No apoB was detectable in the plasma of HBL individuals with an ELISA assay. Useful knowledge : ||| apoB definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| detectable definition: The capability of being noticed, identified or discovered. ||| plasma definition: The residual portion of BLOOD that is left after removal of BLOOD CELLS by CENTRIFUGATION without prior BLOOD COAGULATION. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| ELISA definition: An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed. ||| assay definition: A method of measuring the effects of a biologically active substance using an intermediate in vivo or in vitro tissue or cell model under controlled conditions. It includes virulence studies in animal fetuses in utero, mouse convulsion bioassay of insulin, quantitation of tumor-initiator systems in mouse skin, calculation of potentiating effects of a hormonal factor in an isolated strip of contracting stomach muscle, etc. ||| Output:

No apoB was detectable in the plasma of @@HBL## individuals with an ELISA assay.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: No apoB was detectable in the plasma of HBL individuals with an ELISA assay. Useful knowledge : ||| apoB definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| detectable definition: The capability of being noticed, identified or discovered. ||| plasma definition: The residual portion of BLOOD that is left after removal of BLOOD CELLS by CENTRIFUGATION without prior BLOOD COAGULATION. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| ELISA definition: An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed. ||| assay definition: A method of measuring the effects of a biologically active substance using an intermediate in vivo or in vitro tissue or cell model under controlled conditions. It includes virulence studies in animal fetuses in utero, mouse convulsion bioassay of insulin, quantitation of tumor-initiator systems in mouse skin, calculation of potentiating effects of a hormonal factor in an isolated strip of contracting stomach muscle, etc. ||| Output: [/INST] No apoB was detectable in the plasma of @@HBL## individuals with an ELISA assay.

No apoB was detectable in the plasma of @@HBL## individuals with an ELISA assay.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These data are most consistent with a mutation in the coding portion of the apoB gene in HBL patients, leading to an abnormal apoB protein and apoB mRNA instability. Useful knowledge : ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| coding portion definition: A coded value specifying the arrangement or apportionment of the body (or a paired organ) ||| apoB gene definition: This gene plays a role in lipid transport. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| abnormal definition: Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. ||| apoB protein definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| Output:

These data are most consistent with a mutation in the coding portion of the apoB gene in @@HBL## patients, leading to an abnormal apoB protein and apoB mRNA instability.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These data are most consistent with a mutation in the coding portion of the apoB gene in HBL patients, leading to an abnormal apoB protein and apoB mRNA instability. Useful knowledge : ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| coding portion definition: A coded value specifying the arrangement or apportionment of the body (or a paired organ) ||| apoB gene definition: This gene plays a role in lipid transport. ||| HBL definition: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| abnormal definition: Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. ||| apoB protein definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| Output: [/INST] These data are most consistent with a mutation in the coding portion of the apoB gene in @@HBL## patients, leading to an abnormal apoB protein and apoB mRNA instability.

These data are most consistent with a mutation in the coding portion of the apoB gene in @@HBL## patients, leading to an abnormal apoB protein and apoB mRNA instability.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein.. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| abetalipoproteinemia definition: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| level definition: A position on a scale measuring intensity, quality, or amount. ||| hepatic definition: Pertaining to, affecting, or associated with the liver. ||| apoB mRNA definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| accumulation definition: A state characterized by the gradual increase in entities or substances. ||| intracellular definition: The organized colloidal complex of organic and inorganic substances (as proteins and water) that constitutes the living nucleus, cytoplasm, plastids, and mitochondria of the cell. It is composed mainly of nucleic acids, proteins, lipids, carbohydrates, and inorganic salts. ||| Output:

These results are distinct from those previously noted in @@abetalipoproteinemia##, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein..

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein.. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| abetalipoproteinemia definition: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| level definition: A position on a scale measuring intensity, quality, or amount. ||| hepatic definition: Pertaining to, affecting, or associated with the liver. ||| apoB mRNA definition: Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA. ||| accumulation definition: A state characterized by the gradual increase in entities or substances. ||| intracellular definition: The organized colloidal complex of organic and inorganic substances (as proteins and water) that constitutes the living nucleus, cytoplasm, plastids, and mitochondria of the cell. It is composed mainly of nucleic acids, proteins, lipids, carbohydrates, and inorganic salts. ||| Output: [/INST] These results are distinct from those previously noted in @@abetalipoproteinemia##, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein..

These results are distinct from those previously noted in @@abetalipoproteinemia##, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A population-based study of the clinical expression of the hemochromatosis gene. Useful knowledge : ||| population-based study definition: Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment. ||| clinical expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| hemochromatosis gene definition: This gene plays a role in the modulation of iron transport. ||| Output:

A population-based study of the clinical expression of the @@hemochromatosis## gene.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A population-based study of the clinical expression of the hemochromatosis gene. Useful knowledge : ||| population-based study definition: Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment. ||| clinical expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| hemochromatosis gene definition: This gene plays a role in the modulation of iron transport. ||| Output: [/INST] A population-based study of the clinical expression of the @@hemochromatosis## gene.

A population-based study of the clinical expression of the @@hemochromatosis## gene.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body. Useful knowledge : ||| BACKGROUND definition: Existing conditions, especially those that would be confused with the phenomenon to be observed or measured. ||| Hereditary hemochromatosis definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| associated with definition: Joined in some kind of relationship. ||| homozygosity definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| hemochromatosis definition: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) ||| chromosome 6 definition: A specific pair GROUP C CHROMSOMES of the human chromosome classification. ||| elevated serum transferrin saturation definition: None ||| excess definition: Excessive amount of sodium in the blood. (Dorland, 27th ed) ||| iron deposits definition: Accumulation of extraneous inorganic matter in tissues or cavities. ||| body definition: The human being as a non-anatomical and non-zoological entity. The emphasis is on the philosophical or artistic treatment of the human being, and includes lay and social attitudes toward the body in history. (From J. Cassedy, NLM History of Medicine Division) ||| Output:

BACKGROUND AND METHODS @@Hereditary hemochromatosis## is associated with homozygosity for the C282Y mutation in the @@hemochromatosis## (HFE) gene on chromosome 6, elevated serum transferrin saturation, and @@excess iron deposits## throughout the body.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: BACKGROUND AND METHODS Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body. Useful knowledge : ||| BACKGROUND definition: Existing conditions, especially those that would be confused with the phenomenon to be observed or measured. ||| Hereditary hemochromatosis definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| associated with definition: Joined in some kind of relationship. ||| homozygosity definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| hemochromatosis definition: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) ||| chromosome 6 definition: A specific pair GROUP C CHROMSOMES of the human chromosome classification. ||| elevated serum transferrin saturation definition: None ||| excess definition: Excessive amount of sodium in the blood. (Dorland, 27th ed) ||| iron deposits definition: Accumulation of extraneous inorganic matter in tissues or cavities. ||| body definition: The human being as a non-anatomical and non-zoological entity. The emphasis is on the philosophical or artistic treatment of the human being, and includes lay and social attitudes toward the body in history. (From J. Cassedy, NLM History of Medicine Division) ||| Output: [/INST] BACKGROUND AND METHODS @@Hereditary hemochromatosis## is associated with homozygosity for the C282Y mutation in the @@hemochromatosis## (HFE) gene on chromosome 6, elevated serum transferrin saturation, and @@excess iron deposits## throughout the body.

BACKGROUND AND METHODS @@Hereditary hemochromatosis## is associated with homozygosity for the C282Y mutation in the @@hemochromatosis## (HFE) gene on chromosome 6, elevated serum transferrin saturation, and @@excess iron deposits## throughout the body.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia. Useful knowledge : ||| assess definition: The final result of a determination of the value, significance, or extent of. ||| prevalence definition: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time. ||| clinical expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| HFE gene definition: This gene plays a role in the modulation of iron transport. ||| population-based study definition: Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment. ||| Australia definition: The smallest continent and an independent country, comprising six states and two territories. Its capital is Canberra. ||| Output:

To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia. Useful knowledge : ||| assess definition: The final result of a determination of the value, significance, or extent of. ||| prevalence definition: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time. ||| clinical expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| HFE gene definition: This gene plays a role in the modulation of iron transport. ||| population-based study definition: Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment. ||| Australia definition: The smallest continent and an independent country, comprising six states and two territories. Its capital is Canberra. ||| Output: [/INST] To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia.

To assess the prevalence and clinical expression of the HFE gene, we conducted a population-based study in Busselton, Australia.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults. Useful knowledge : ||| blood samples definition: A small volume of blood removed for testing or storage. ||| determination definition: The final judgment in a legal proceeding. ||| serum transferrin saturation definition: The determination of the iron bound to transferrin in a sample. ||| ferritin definition: Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types. ||| levels definition: A position on a scale measuring intensity, quality, or amount. ||| presence definition: None ||| absence definition: Not existing in a specified place at a specified time. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| increased definition: None ||| hepatic iron levels definition: The determination of the amount of iron present in a sample. ||| Output:

In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults. Useful knowledge : ||| blood samples definition: A small volume of blood removed for testing or storage. ||| determination definition: The final judgment in a legal proceeding. ||| serum transferrin saturation definition: The determination of the iron bound to transferrin in a sample. ||| ferritin definition: Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types. ||| levels definition: A position on a scale measuring intensity, quality, or amount. ||| presence definition: None ||| absence definition: Not existing in a specified place at a specified time. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| increased definition: None ||| hepatic iron levels definition: The determination of the amount of iron present in a sample. ||| Output: [/INST] In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults.

In 1994, we obtained blood samples for the determination of serum transferrin saturation and ferritin levels and the presence or absence of the C282Y mutation and the H63D mutation (which may contribute to increased hepatic iron levels) in 3011 unrelated white adults.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation. Useful knowledge : ||| evaluated definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| transferrin-saturation values definition: The determination of the iron bound to transferrin in a sample. ||| higher definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation. Useful knowledge : ||| evaluated definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| transferrin-saturation values definition: The determination of the iron bound to transferrin in a sample. ||| higher definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation.

We evaluated all subjects who had persistently elevated transferrin-saturation values (45 percent or higher) or were homozygous for the C282Y mutation.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher. Useful knowledge : ||| liver biopsy definition: Removal of tissue from the liver for microscopic examination. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| serum ferritin levels definition: None ||| higher definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| Output:

We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher. Useful knowledge : ||| liver biopsy definition: Removal of tissue from the liver for microscopic examination. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| serum ferritin levels definition: None ||| higher definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| Output: [/INST] We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher.

We recommended liver biopsy for subjects with serum ferritin levels of 300 ng per milliliter or higher.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The subjects were followed for up to four years. Useful knowledge : ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| years definition: A period of time that it takes for Earth to make a complete revolution around the sun, approximately 365 days; a specific one year period. ||| Output:

The subjects were followed for up to four years.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The subjects were followed for up to four years. Useful knowledge : ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| years definition: A period of time that it takes for Earth to make a complete revolution around the sun, approximately 365 days; a specific one year period. ||| Output: [/INST] The subjects were followed for up to four years.

The subjects were followed for up to four years.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: RESULTS Sixteen of the subjects (0. Useful knowledge : ||| RESULTS definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| Output:

RESULTS Sixteen of the subjects (0.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: RESULTS Sixteen of the subjects (0. Useful knowledge : ||| RESULTS definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| Output: [/INST] RESULTS Sixteen of the subjects (0.

RESULTS Sixteen of the subjects (0.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 5 percent) were homozygous for the C282Y mutation, and 424 (14. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

5 percent) were homozygous for the C282Y mutation, and 424 (14.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 5 percent) were homozygous for the C282Y mutation, and 424 (14. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] 5 percent) were homozygous for the C282Y mutation, and 424 (14.

5 percent) were homozygous for the C282Y mutation, and 424 (14.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1 percent) were heterozygous. Useful knowledge : ||| heterozygous definition: An individual having different alleles at one or more loci regarding a specific character. ||| Output:

1 percent) were heterozygous.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1 percent) were heterozygous. Useful knowledge : ||| heterozygous definition: An individual having different alleles at one or more loci regarding a specific character. ||| Output: [/INST] 1 percent) were heterozygous.

1 percent) were heterozygous.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous; in 1 subject it was 43 percent. Useful knowledge : ||| serum transferrin saturation definition: The determination of the iron bound to transferrin in a sample. ||| higher definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subject definition: A matter or an individual that is observed, analyzed, examined, investigated, experimented upon, or/and treated in the course of a particular study. ||| Output:

The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous; in 1 subject it was 43 percent.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous; in 1 subject it was 43 percent. Useful knowledge : ||| serum transferrin saturation definition: The determination of the iron bound to transferrin in a sample. ||| higher definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subject definition: A matter or an individual that is observed, analyzed, examined, investigated, experimented upon, or/and treated in the course of a particular study. ||| Output: [/INST] The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous; in 1 subject it was 43 percent.

The serum transferrin saturation was 45 percent or higher in 15 of the 16 who were homozygous; in 1 subject it was 43 percent.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Four of the homozygous subjects had previously been given a diagnosis of hemochromatosis, and 12 had not. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| diagnosis definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| hemochromatosis definition: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) ||| Output:

Four of the homozygous subjects had previously been given a diagnosis of @@hemochromatosis##, and 12 had not.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Four of the homozygous subjects had previously been given a diagnosis of hemochromatosis, and 12 had not. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| diagnosis definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| hemochromatosis definition: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) ||| Output: [/INST] Four of the homozygous subjects had previously been given a diagnosis of @@hemochromatosis##, and 12 had not.

Four of the homozygous subjects had previously been given a diagnosis of @@hemochromatosis##, and 12 had not.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Seven of these 12 patients had elevated serum ferritin levels in 1994; 6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| serum ferritin levels definition: None ||| increases definition: None ||| decrease definition: Made less in size or amount or degree. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| Output:

Seven of these 12 patients had elevated serum ferritin levels in 1994; 6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Seven of these 12 patients had elevated serum ferritin levels in 1994; 6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| serum ferritin levels definition: None ||| increases definition: None ||| decrease definition: Made less in size or amount or degree. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| Output: [/INST] Seven of these 12 patients had elevated serum ferritin levels in 1994; 6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated.

Seven of these 12 patients had elevated serum ferritin levels in 1994; 6 of the 7 had further increases in 1998, and 1 had a decrease, although the value remained elevated.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The serum ferritin levels in the four other homozygous patients remained in the normal range. Useful knowledge : ||| serum ferritin levels definition: None ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| normal range definition: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. ||| Output:

The serum ferritin levels in the four other homozygous patients remained in the normal range.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The serum ferritin levels in the four other homozygous patients remained in the normal range. Useful knowledge : ||| serum ferritin levels definition: None ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| normal range definition: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality. ||| Output: [/INST] The serum ferritin levels in the four other homozygous patients remained in the normal range.

The serum ferritin levels in the four other homozygous patients remained in the normal range.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| liver biopsy definition: Removal of tissue from the liver for microscopic examination. ||| hepatic fibrosis definition: A condition in which the liver parenchyma is replaced by fibrous tissue. It may progress to cirrhosis of the liver. ||| history definition: Record and study of past events. ||| excessive definition: Beyond normal limits; unrestrained. ||| alcohol consumption definition: Behaviors associated with the ingesting of ALCOHOLIC BEVERAGES, including social drinking. ||| cirrhosis definition: Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. ||| mild definition: None ||| microvesicular steatosis definition: A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike macrovesicular steatosis, the fat accumulation occurs around the nucleus of the hepatocytes, without displacing it. ||| Output:

Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had @@hepatic fibrosis##, and 1, who had a history of @@excessive alcohol consumption##, had @@cirrhosis## and mild @@microvesicular steatosis##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had hepatic fibrosis, and 1, who had a history of excessive alcohol consumption, had cirrhosis and mild microvesicular steatosis. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| liver biopsy definition: Removal of tissue from the liver for microscopic examination. ||| hepatic fibrosis definition: A condition in which the liver parenchyma is replaced by fibrous tissue. It may progress to cirrhosis of the liver. ||| history definition: Record and study of past events. ||| excessive definition: Beyond normal limits; unrestrained. ||| alcohol consumption definition: Behaviors associated with the ingesting of ALCOHOLIC BEVERAGES, including social drinking. ||| cirrhosis definition: Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. ||| mild definition: None ||| microvesicular steatosis definition: A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike macrovesicular steatosis, the fat accumulation occurs around the nucleus of the hepatocytes, without displacing it. ||| Output: [/INST] Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had @@hepatic fibrosis##, and 1, who had a history of @@excessive alcohol consumption##, had @@cirrhosis## and mild @@microvesicular steatosis##.

Eleven of the 16 homozygous subjects underwent liver biopsy; 3 had @@hepatic fibrosis##, and 1, who had a history of @@excessive alcohol consumption##, had @@cirrhosis## and mild @@microvesicular steatosis##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| clinical findings definition: Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| presence definition: None ||| hereditary hemochromatosis definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| hepatomegaly definition: Enlargement of the liver. ||| skin pigmentation definition: Coloration of the skin. ||| arthritis definition: Acute or chronic inflammation of JOINTS. ||| Output:

Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of @@hereditary hemochromatosis##, such as @@hepatomegaly##, @@skin pigmentation##, and @@arthritis##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and arthritis. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| clinical findings definition: Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| presence definition: None ||| hereditary hemochromatosis definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| hepatomegaly definition: Enlargement of the liver. ||| skin pigmentation definition: Coloration of the skin. ||| arthritis definition: Acute or chronic inflammation of JOINTS. ||| Output: [/INST] Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of @@hereditary hemochromatosis##, such as @@hepatomegaly##, @@skin pigmentation##, and @@arthritis##.

Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of @@hereditary hemochromatosis##, such as @@hepatomegaly##, @@skin pigmentation##, and @@arthritis##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: CONCLUSIONS In a population of white adults of northern European ancestry, 0. Useful knowledge : ||| CONCLUSIONS definition: A position or opinion or judgment reached after consideration. ||| population definition: The total number of individuals inhabiting a particular region or area. ||| northern definition: One of the four primary cardinal directions. It is at 0 degree on a compass card. It is the direction to the left of sunrise. ||| European definition: Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. ||| ancestry definition: A person's descent or lineage, from a person or from a population. ||| Output:

CONCLUSIONS In a population of white adults of northern European ancestry, 0.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: CONCLUSIONS In a population of white adults of northern European ancestry, 0. Useful knowledge : ||| CONCLUSIONS definition: A position or opinion or judgment reached after consideration. ||| population definition: The total number of individuals inhabiting a particular region or area. ||| northern definition: One of the four primary cardinal directions. It is at 0 degree on a compass card. It is the direction to the left of sunrise. ||| European definition: Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. ||| ancestry definition: A person's descent or lineage, from a person or from a population. ||| Output: [/INST] CONCLUSIONS In a population of white adults of northern European ancestry, 0.

CONCLUSIONS In a population of white adults of northern European ancestry, 0.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 5 percent were homozygous for the C282Y mutation in the HFE gene. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| HFE gene definition: This gene plays a role in the modulation of iron transport. ||| Output:

5 percent were homozygous for the C282Y mutation in the HFE gene.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 5 percent were homozygous for the C282Y mutation in the HFE gene. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| HFE gene definition: This gene plays a role in the modulation of iron transport. ||| Output: [/INST] 5 percent were homozygous for the C282Y mutation in the HFE gene.

5 percent were homozygous for the C282Y mutation in the HFE gene.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: However, only half of those who were homozygous had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained normal over a four-year period. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| hemochromatosis definition: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) ||| quarter definition: One of four equal parts; a quantity corresponding to one fourth of the whole. ||| serum ferritin levels definition: None ||| period definition: The periodic shedding of the ENDOMETRIUM and associated menstrual bleeding in the MENSTRUAL CYCLE of humans and primates. Menstruation is due to the decline in circulating PROGESTERONE, and occurs at the late LUTEAL PHASE when LUTEOLYSIS of the CORPUS LUTEUM takes place. ||| Output:

However, only half of those who were homozygous had clinical features of @@hemochromatosis##, and one quarter had serum ferritin levels that remained normal over a four-year period.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: However, only half of those who were homozygous had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained normal over a four-year period. Useful knowledge : ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| hemochromatosis definition: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) ||| quarter definition: One of four equal parts; a quantity corresponding to one fourth of the whole. ||| serum ferritin levels definition: None ||| period definition: The periodic shedding of the ENDOMETRIUM and associated menstrual bleeding in the MENSTRUAL CYCLE of humans and primates. Menstruation is due to the decline in circulating PROGESTERONE, and occurs at the late LUTEAL PHASE when LUTEOLYSIS of the CORPUS LUTEUM takes place. ||| Output: [/INST] However, only half of those who were homozygous had clinical features of @@hemochromatosis##, and one quarter had serum ferritin levels that remained normal over a four-year period.

However, only half of those who were homozygous had clinical features of @@hemochromatosis##, and one quarter had serum ferritin levels that remained normal over a four-year period.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Useful knowledge : ||| Overexpression definition: Synthesis of excess polypeptide within the cell. Overexpression is often due to the amplification or deregulation of the gene which encodes the gene product. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| brothers definition: A male sibling. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| Output:

Overexpression of DM20 messenger RNA in two brothers with @@Pelizaeus-Merzbacher disease##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Useful knowledge : ||| Overexpression definition: Synthesis of excess polypeptide within the cell. Overexpression is often due to the amplification or deregulation of the gene which encodes the gene product. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| brothers definition: A male sibling. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| Output: [/INST] Overexpression of DM20 messenger RNA in two brothers with @@Pelizaeus-Merzbacher disease##.

Overexpression of DM20 messenger RNA in two brothers with @@Pelizaeus-Merzbacher disease##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene. Useful knowledge : ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| rare definition: Not occurring regularly or at short intervals. ||| sex-linked recessive definition: A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [HPO:curators] ||| central nervous system definition: None ||| associated with definition: Joined in some kind of relationship. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| myelin proteolipid protein definition: A myelin protein that is the major component of the organic solvent extractable lipoprotein complexes of whole brain. It has been the subject of much study because of its unusual physical properties. It remains soluble in chloroform even after essentially all of its bound lipids have been removed. (From Siegel et al., Basic Neurochemistry, 4th ed, p122) ||| Output:

@@Pelizaeus-Merzbacher disease## is a @@rare, sex-linked recessive, dysmyelinating disease of the central nervous system## that has been associated with mutations in the myelin proteolipid protein (PLP) gene.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene. Useful knowledge : ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| rare definition: Not occurring regularly or at short intervals. ||| sex-linked recessive definition: A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [HPO:curators] ||| central nervous system definition: None ||| associated with definition: Joined in some kind of relationship. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| myelin proteolipid protein definition: A myelin protein that is the major component of the organic solvent extractable lipoprotein complexes of whole brain. It has been the subject of much study because of its unusual physical properties. It remains soluble in chloroform even after essentially all of its bound lipids have been removed. (From Siegel et al., Basic Neurochemistry, 4th ed, p122) ||| Output: [/INST] @@Pelizaeus-Merzbacher disease## is a @@rare, sex-linked recessive, dysmyelinating disease of the central nervous system## that has been associated with mutations in the myelin proteolipid protein (PLP) gene.

@@Pelizaeus-Merzbacher disease## is a @@rare, sex-linked recessive, dysmyelinating disease of the central nervous system## that has been associated with mutations in the myelin proteolipid protein (PLP) gene.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Only 25% of patients studied with Pelizaeus-Merzbacher disease have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| exonic mutations definition: A change in the nucleotide sequence of an exon in a gene. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| cause definition: Used with diseases for causative agents including microorganisms and includes environmental and social factors and personal habits as contributing factors. It includes pathogenesis. ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

Only 25% of patients studied with @@Pelizaeus-Merzbacher disease## have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Only 25% of patients studied with Pelizaeus-Merzbacher disease have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| exonic mutations definition: A change in the nucleotide sequence of an exon in a gene. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| cause definition: Used with diseases for causative agents including microorganisms and includes environmental and social factors and personal habits as contributing factors. It includes pathogenesis. ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output: [/INST] Only 25% of patients studied with @@Pelizaeus-Merzbacher disease## have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown.

Only 25% of patients studied with @@Pelizaeus-Merzbacher disease## have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The PLP gene encodes two major alternatively spliced transcripts called PLP and DM20. Useful knowledge : ||| PLP gene definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| spliced definition: A device designed to join pieces of a material into a continuous length. ||| transcripts definition: The initial RNA molecule produced by transcription. ||| PLP definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| DM20 definition: This gene is involved in neuronal development. ||| Output:

The PLP gene encodes two major alternatively spliced transcripts called PLP and DM20.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The PLP gene encodes two major alternatively spliced transcripts called PLP and DM20. Useful knowledge : ||| PLP gene definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| spliced definition: A device designed to join pieces of a material into a continuous length. ||| transcripts definition: The initial RNA molecule produced by transcription. ||| PLP definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| DM20 definition: This gene is involved in neuronal development. ||| Output: [/INST] The PLP gene encodes two major alternatively spliced transcripts called PLP and DM20.

The PLP gene encodes two major alternatively spliced transcripts called PLP and DM20.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: PLP messenger RNA is specifically expressed in central nervous system tissue, whereas DM20 messenger RNA is found in central nervous system, cardiac, and other tissues. Useful knowledge : ||| PLP messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| expressed definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| central nervous system tissue definition: None ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| central nervous system definition: None ||| cardiac definition: The hollow, muscular organ that maintains the circulation of the blood. ||| tissues definition: Collections of differentiated CELLS, such as EPITHELIUM; CONNECTIVE TISSUE; MUSCLES; and NERVE TISSUE. Tissues are cooperatively arranged to form organs with specialized functions such as RESPIRATION; DIGESTION; REPRODUCTION; MOVEMENT; and others. ||| Output:

PLP messenger RNA is specifically expressed in central nervous system tissue, whereas DM20 messenger RNA is found in central nervous system, cardiac, and other tissues.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: PLP messenger RNA is specifically expressed in central nervous system tissue, whereas DM20 messenger RNA is found in central nervous system, cardiac, and other tissues. Useful knowledge : ||| PLP messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| expressed definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| central nervous system tissue definition: None ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| central nervous system definition: None ||| cardiac definition: The hollow, muscular organ that maintains the circulation of the blood. ||| tissues definition: Collections of differentiated CELLS, such as EPITHELIUM; CONNECTIVE TISSUE; MUSCLES; and NERVE TISSUE. Tissues are cooperatively arranged to form organs with specialized functions such as RESPIRATION; DIGESTION; REPRODUCTION; MOVEMENT; and others. ||| Output: [/INST] PLP messenger RNA is specifically expressed in central nervous system tissue, whereas DM20 messenger RNA is found in central nervous system, cardiac, and other tissues.

PLP messenger RNA is specifically expressed in central nervous system tissue, whereas DM20 messenger RNA is found in central nervous system, cardiac, and other tissues.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We studied cultured skin fibroblasts from 2 brothers with Pelizaeus-Merzbacher disease who exhibited no detectable exonic mutation of the PLP gene. Useful knowledge : ||| cultured skin definition: A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. ||| fibroblasts definition: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. ||| brothers definition: A male sibling. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| detectable definition: The capability of being noticed, identified or discovered. ||| exonic mutation definition: A change in the nucleotide sequence of an exon in a gene. ||| PLP gene definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| Output:

We studied cultured skin fibroblasts from 2 brothers with @@Pelizaeus-Merzbacher disease## who exhibited no detectable exonic mutation of the PLP gene.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We studied cultured skin fibroblasts from 2 brothers with Pelizaeus-Merzbacher disease who exhibited no detectable exonic mutation of the PLP gene. Useful knowledge : ||| cultured skin definition: A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. ||| fibroblasts definition: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. ||| brothers definition: A male sibling. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| detectable definition: The capability of being noticed, identified or discovered. ||| exonic mutation definition: A change in the nucleotide sequence of an exon in a gene. ||| PLP gene definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| Output: [/INST] We studied cultured skin fibroblasts from 2 brothers with @@Pelizaeus-Merzbacher disease## who exhibited no detectable exonic mutation of the PLP gene.

We studied cultured skin fibroblasts from 2 brothers with @@Pelizaeus-Merzbacher disease## who exhibited no detectable exonic mutation of the PLP gene.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Examination of RNA from these cells showed that the level of DM20 messenger RNA is elevated sixfold relative to male control skin fibroblasts. Useful knowledge : ||| RNA definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| cells definition: The fundamental, structural, and functional units or subunits of living organisms. They are composed of CYTOPLASM containing various ORGANELLES and a CELL MEMBRANE boundary. ||| level definition: A position on a scale measuring intensity, quality, or amount. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| male definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| skin definition: None ||| fibroblasts definition: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. ||| Output:

Examination of RNA from these cells showed that the level of DM20 messenger RNA is elevated sixfold relative to male control skin fibroblasts.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Examination of RNA from these cells showed that the level of DM20 messenger RNA is elevated sixfold relative to male control skin fibroblasts. Useful knowledge : ||| RNA definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| cells definition: The fundamental, structural, and functional units or subunits of living organisms. They are composed of CYTOPLASM containing various ORGANELLES and a CELL MEMBRANE boundary. ||| level definition: A position on a scale measuring intensity, quality, or amount. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| elevated definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| male definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| skin definition: None ||| fibroblasts definition: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. ||| Output: [/INST] Examination of RNA from these cells showed that the level of DM20 messenger RNA is elevated sixfold relative to male control skin fibroblasts.

Examination of RNA from these cells showed that the level of DM20 messenger RNA is elevated sixfold relative to male control skin fibroblasts.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: An unrelated female carrier, also with no detectable exonic mutation, showed a threefold increase in DM20 messenger RNA in cultured skin fibroblasts. Useful knowledge : ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| detectable definition: The capability of being noticed, identified or discovered. ||| exonic mutation definition: A change in the nucleotide sequence of an exon in a gene. ||| increase definition: A process of becoming larger, more numerous, more important, or more likely. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| cultured skin definition: A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. ||| fibroblasts definition: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. ||| Output:

An unrelated female carrier, also with no detectable exonic mutation, showed a threefold increase in DM20 messenger RNA in cultured skin fibroblasts.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: An unrelated female carrier, also with no detectable exonic mutation, showed a threefold increase in DM20 messenger RNA in cultured skin fibroblasts. Useful knowledge : ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| detectable definition: The capability of being noticed, identified or discovered. ||| exonic mutation definition: A change in the nucleotide sequence of an exon in a gene. ||| increase definition: A process of becoming larger, more numerous, more important, or more likely. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| cultured skin definition: A sheet of cells are grown in culture in a laboratory for use as a biosynthetic dermal graft. ||| fibroblasts definition: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. ||| Output: [/INST] An unrelated female carrier, also with no detectable exonic mutation, showed a threefold increase in DM20 messenger RNA in cultured skin fibroblasts.

An unrelated female carrier, also with no detectable exonic mutation, showed a threefold increase in DM20 messenger RNA in cultured skin fibroblasts.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Our findings suggest that in some patients, Pelizaeus-Merzbacher disease is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier.. Useful knowledge : ||| findings definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| overexpression definition: Synthesis of excess polypeptide within the cell. Overexpression is often due to the amplification or deregulation of the gene which encodes the gene product. ||| PLP gene definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| transcripts definition: The initial RNA molecule produced by transcription. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| increase definition: A process of becoming larger, more numerous, more important, or more likely. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| females definition: An individual who reports belonging to the cultural gender role distinction of female. ||| increase definition: A process of becoming larger, more numerous, more important, or more likely. ||| affected definition: To be influenced by or changed. ||| males definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| carrier definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| Output:

Our findings suggest that in some patients, @@Pelizaeus-Merzbacher disease## is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier..

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Our findings suggest that in some patients, Pelizaeus-Merzbacher disease is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier.. Useful knowledge : ||| findings definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| overexpression definition: Synthesis of excess polypeptide within the cell. Overexpression is often due to the amplification or deregulation of the gene which encodes the gene product. ||| PLP gene definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| transcripts definition: The initial RNA molecule produced by transcription. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| increase definition: A process of becoming larger, more numerous, more important, or more likely. ||| DM20 messenger RNA definition: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. ||| females definition: An individual who reports belonging to the cultural gender role distinction of female. ||| increase definition: A process of becoming larger, more numerous, more important, or more likely. ||| affected definition: To be influenced by or changed. ||| males definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| carrier definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| Output: [/INST] Our findings suggest that in some patients, @@Pelizaeus-Merzbacher disease## is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier..

Our findings suggest that in some patients, @@Pelizaeus-Merzbacher disease## is caused by overexpression of PLP gene transcripts, and that in these families a 50% increase of DM20 messenger RNA in females, relative to the increase in affected males, can identify a female carrier..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. Useful knowledge : ||| Homozygosity definition: An individual in which both alleles at a given locus are identical. ||| DTDST definition: None ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| child definition: A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. ||| variant definition: An alteration or difference from a norm or standard. ||| diastrophic dysplasia definition: An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the "hitchhiker" thumb, resulting from deformity of the first metacarpal. ||| Output:

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of @@diastrophic dysplasia##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. Useful knowledge : ||| Homozygosity definition: An individual in which both alleles at a given locus are identical. ||| DTDST definition: None ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| child definition: A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. ||| variant definition: An alteration or difference from a norm or standard. ||| diastrophic dysplasia definition: An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the "hitchhiker" thumb, resulting from deformity of the first metacarpal. ||| Output: [/INST] Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of @@diastrophic dysplasia##.

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of @@diastrophic dysplasia##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. Useful knowledge : ||| Atypical definition: Varying from the norm; not conformable to the type. ||| variant definition: An alteration or difference from a norm or standard. ||| chondrodysplasias definition: None ||| diagnostic problems definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| Output:

Atypical or variant forms of well-known @@chondrodysplasias## may pose diagnostic problems.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. Useful knowledge : ||| Atypical definition: Varying from the norm; not conformable to the type. ||| variant definition: An alteration or difference from a norm or standard. ||| chondrodysplasias definition: None ||| diagnostic problems definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| Output: [/INST] Atypical or variant forms of well-known @@chondrodysplasias## may pose diagnostic problems.

Atypical or variant forms of well-known @@chondrodysplasias## may pose diagnostic problems.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia. Useful knowledge : ||| report definition: Detailed account or statement or formal record of the proceedings of a meeting or session. May also document status or progress of an activity or research project. ||| girl definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| diastrophic dysplasia definition: An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the "hitchhiker" thumb, resulting from deformity of the first metacarpal. ||| radiographic definition: None ||| features definition: Discrete protein structural units that may fold independently of the rest of the protein and have their own functions. ||| severe definition: Intensely bad or unpleasant in degree, quality or extent. ||| platyspondyly definition: A flattened vertebral body shape with reduced distance between the vertebral endplates. [HPO:probinson] ||| wide metaphyses definition: A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets. ||| fibular overgrowth definition: Relatively increased growth of the fibula compared to that of the tibia. [HPO:probinson, PMID:17259417] ||| metatropic dysplasia definition: An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities. ||| Output:

We report on a girl with clinical features suggesting @@diastrophic dysplasia## but with unusual radiographic features including severe @@platyspondyly##, wide metaphyses, and fibular overgrowth, which are partially reminiscent of @@metatropic dysplasia##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses, and fibular overgrowth, which are partially reminiscent of metatropic dysplasia. Useful knowledge : ||| report definition: Detailed account or statement or formal record of the proceedings of a meeting or session. May also document status or progress of an activity or research project. ||| girl definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| diastrophic dysplasia definition: An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the "hitchhiker" thumb, resulting from deformity of the first metacarpal. ||| radiographic definition: None ||| features definition: Discrete protein structural units that may fold independently of the rest of the protein and have their own functions. ||| severe definition: Intensely bad or unpleasant in degree, quality or extent. ||| platyspondyly definition: A flattened vertebral body shape with reduced distance between the vertebral endplates. [HPO:probinson] ||| wide metaphyses definition: A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets. ||| fibular overgrowth definition: Relatively increased growth of the fibula compared to that of the tibia. [HPO:probinson, PMID:17259417] ||| metatropic dysplasia definition: An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities. ||| Output: [/INST] We report on a girl with clinical features suggesting @@diastrophic dysplasia## but with unusual radiographic features including severe @@platyspondyly##, wide metaphyses, and fibular overgrowth, which are partially reminiscent of @@metatropic dysplasia##.

We report on a girl with clinical features suggesting @@diastrophic dysplasia## but with unusual radiographic features including severe @@platyspondyly##, wide metaphyses, and fibular overgrowth, which are partially reminiscent of @@metatropic dysplasia##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter. Useful knowledge : ||| diagnosis definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| molecular analysis definition: A laboratory procedure that involves the study of tissues, cells, and fluids using DNA/RNA analysis techniques for the identification of characteristics and abnormalities at the molecular level. ||| DTDST gene definition: An autosomal recessive condition caused by mutation(s) in the SLC6A3 gene, encoding sodium-dependent dopamine transporter. It is characterized by Parkinsonian features and has an onset in early infancy. ||| homozygosity definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| substitution definition: <p>Definition: Indicates that the subject Act has undergone or should undergo substitution of a type indicated by Act.code.</p><p>Rationale: Used to specify "allowed" substitution when creating orders, "actual" susbstitution when sending events, as well as the reason for the substitution and who was responsible for it.</p> ||| Output:

The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter. Useful knowledge : ||| diagnosis definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| molecular analysis definition: A laboratory procedure that involves the study of tissues, cells, and fluids using DNA/RNA analysis techniques for the identification of characteristics and abnormalities at the molecular level. ||| DTDST gene definition: An autosomal recessive condition caused by mutation(s) in the SLC6A3 gene, encoding sodium-dependent dopamine transporter. It is characterized by Parkinsonian features and has an onset in early infancy. ||| homozygosity definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| substitution definition: <p>Definition: Indicates that the subject Act has undergone or should undergo substitution of a type indicated by Act.code.</p><p>Rationale: Used to specify "allowed" substitution when creating orders, "actual" susbstitution when sending events, as well as the reason for the substitution and who was responsible for it.</p> ||| Output: [/INST] The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.

The diagnosis was clarified by molecular analysis of the DTDST gene, which revealed homozygosity for a previously undescribed mutation leading to a Q454P substitution in the 10th transmembrane domain of the DTDST sulfate transporter.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Molecular analysis may be of particular value in such atypical cases.. Useful knowledge : ||| Molecular analysis definition: A laboratory procedure that involves the study of tissues, cells, and fluids using DNA/RNA analysis techniques for the identification of characteristics and abnormalities at the molecular level. ||| atypical definition: Varying from the norm; not conformable to the type. ||| cases definition: None ||| Output:

Molecular analysis may be of particular value in such atypical cases..

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Molecular analysis may be of particular value in such atypical cases.. Useful knowledge : ||| Molecular analysis definition: A laboratory procedure that involves the study of tissues, cells, and fluids using DNA/RNA analysis techniques for the identification of characteristics and abnormalities at the molecular level. ||| atypical definition: Varying from the norm; not conformable to the type. ||| cases definition: None ||| Output: [/INST] Molecular analysis may be of particular value in such atypical cases..

Molecular analysis may be of particular value in such atypical cases..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA. Useful knowledge : ||| Carrier detection definition: Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. ||| prenatal diagnosis definition: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| combination definition: Made or joined or united into one or involving the joint activity of two or more. ||| anonymous definition: Having no known name or identity or known source. ||| DNA polymorphisms definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| proteolipid protein definition: This gene is involved in neuronal development. ||| gene cDNA definition: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe. ||| Output:

Carrier detection and prenatal diagnosis of @@Pelizaeus-Merzbacher disease## using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA. Useful knowledge : ||| Carrier detection definition: Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. ||| prenatal diagnosis definition: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. ||| Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| combination definition: Made or joined or united into one or involving the joint activity of two or more. ||| anonymous definition: Having no known name or identity or known source. ||| DNA polymorphisms definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| proteolipid protein definition: This gene is involved in neuronal development. ||| gene cDNA definition: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe. ||| Output: [/INST] Carrier detection and prenatal diagnosis of @@Pelizaeus-Merzbacher disease## using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.

Carrier detection and prenatal diagnosis of @@Pelizaeus-Merzbacher disease## using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD). Useful knowledge : ||| report definition: Detailed account or statement or formal record of the proceedings of a meeting or session. May also document status or progress of an activity or research project. ||| carrier definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| identification definition: A process by which an individual unconsciously endeavors to pattern himself after another. This process is also important in the development of the personality, particularly the superego or conscience, which is modeled largely on the behavior of adult significant others. ||| prenatal diagnosis definition: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. ||| DNA polymorphisms definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| X-linked Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| PMD definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| Output:

We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with @@X-linked Pelizaeus-Merzbacher disease## (@@PMD##).

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD). Useful knowledge : ||| report definition: Detailed account or statement or formal record of the proceedings of a meeting or session. May also document status or progress of an activity or research project. ||| carrier definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| identification definition: A process by which an individual unconsciously endeavors to pattern himself after another. This process is also important in the development of the personality, particularly the superego or conscience, which is modeled largely on the behavior of adult significant others. ||| prenatal diagnosis definition: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. ||| DNA polymorphisms definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| X-linked Pelizaeus-Merzbacher disease definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| PMD definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| Output: [/INST] We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with @@X-linked Pelizaeus-Merzbacher disease## (@@PMD##).

We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with @@X-linked Pelizaeus-Merzbacher disease## (@@PMD##).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In both families, the proteolipid protein (PLP) gene in the single affected male could be traced back to his unaffected maternal grandfather. Useful knowledge : ||| families definition: A social group consisting of parents or parent substitutes and children. ||| proteolipid protein definition: This gene is involved in neuronal development. ||| affected definition: To be influenced by or changed. ||| male definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| maternal grandfather definition: <p>**Description:**The player of the role is the biological father of the scoping person's biological mother.</p> ||| Output:

In both families, the proteolipid protein (PLP) gene in the single affected male could be traced back to his unaffected maternal grandfather.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In both families, the proteolipid protein (PLP) gene in the single affected male could be traced back to his unaffected maternal grandfather. Useful knowledge : ||| families definition: A social group consisting of parents or parent substitutes and children. ||| proteolipid protein definition: This gene is involved in neuronal development. ||| affected definition: To be influenced by or changed. ||| male definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| maternal grandfather definition: <p>**Description:**The player of the role is the biological father of the scoping person's biological mother.</p> ||| Output: [/INST] In both families, the proteolipid protein (PLP) gene in the single affected male could be traced back to his unaffected maternal grandfather.

In both families, the proteolipid protein (PLP) gene in the single affected male could be traced back to his unaffected maternal grandfather.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Therefore, each family contains a new mutation. Useful knowledge : ||| family definition: A social group consisting of parents or parent substitutes and children. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

Therefore, each family contains a new mutation.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Therefore, each family contains a new mutation. Useful knowledge : ||| family definition: A social group consisting of parents or parent substitutes and children. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output: [/INST] Therefore, each family contains a new mutation.

Therefore, each family contains a new mutation.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of PMD based on her genotype with the PLP intragenic polymorphism.. Useful knowledge : ||| prenatal diagnosis definition: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. ||| fetus definition: The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN. ||| cytogenetic analysis definition: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| noncarrier definition: None ||| PMD definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| PLP definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| Output:

In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of @@PMD## based on her genotype with the PLP intragenic polymorphism..

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of PMD based on her genotype with the PLP intragenic polymorphism.. Useful knowledge : ||| prenatal diagnosis definition: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. ||| fetus definition: The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN. ||| cytogenetic analysis definition: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| noncarrier definition: None ||| PMD definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) ||| genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| PLP definition: This is the active form of VITAMIN B 6 serving as a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into pyridoxamine phosphate (PYRIDOXAMINE). ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| Output: [/INST] In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of @@PMD## based on her genotype with the PLP intragenic polymorphism..

In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of @@PMD## based on her genotype with the PLP intragenic polymorphism..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. Useful knowledge : ||| Gardner syndrome definition: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. ||| boy definition: None ||| interstitial deletion definition: pertaining to or situated between parts of or in the interspaces of a tissue. ||| long arm of chromosome 5 definition: Distal (long) arm of chromosome 5 ||| Output:

@@Gardner syndrome## in a boy with interstitial deletion of the long arm of chromosome 5.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. Useful knowledge : ||| Gardner syndrome definition: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. ||| boy definition: None ||| interstitial deletion definition: pertaining to or situated between parts of or in the interspaces of a tissue. ||| long arm of chromosome 5 definition: Distal (long) arm of chromosome 5 ||| Output: [/INST] @@Gardner syndrome## in a boy with interstitial deletion of the long arm of chromosome 5.

@@Gardner syndrome## in a boy with interstitial deletion of the long arm of chromosome 5.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. Useful knowledge : ||| boy definition: None ||| Gardner syndrome definition: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. ||| GS definition: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. ||| mental retardation definition: A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. ||| craniofacial abnormalities definition: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. ||| Output:

We described a 15-year-old boy with @@Gardner syndrome## (@@GS##), @@mental retardation##, and @@craniofacial abnormalities##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. Useful knowledge : ||| boy definition: None ||| Gardner syndrome definition: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. ||| GS definition: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. ||| mental retardation definition: A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. ||| craniofacial abnormalities definition: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. ||| Output: [/INST] We described a 15-year-old boy with @@Gardner syndrome## (@@GS##), @@mental retardation##, and @@craniofacial abnormalities##.

We described a 15-year-old boy with @@Gardner syndrome## (@@GS##), @@mental retardation##, and @@craniofacial abnormalities##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22. Useful knowledge : ||| interstitial deletion definition: pertaining to or situated between parts of or in the interspaces of a tissue. ||| long arm of chromosome 5 ( definition: Distal (long) arm of chromosome 5 ||| Output:

High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22. Useful knowledge : ||| interstitial deletion definition: pertaining to or situated between parts of or in the interspaces of a tissue. ||| long arm of chromosome 5 ( definition: Distal (long) arm of chromosome 5 ||| Output: [/INST] High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.

High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1----q31 1----q31. Useful knowledge : ||| Output:

1----q31 1----q31.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1----q31 1----q31. Useful knowledge : ||| Output: [/INST] 1----q31 1----q31.

1----q31 1----q31.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1). Useful knowledge : ||| Output:

1).

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 1). Useful knowledge : ||| Output: [/INST] 1).

1).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies Useful knowledge : ||| breakpoints definition: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred. ||| case definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| adenomatous polyposis coli definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| findings definition: None ||| Output:

The breakpoints in the present case and in 3 previously reported 5q- patients with @@adenomatous polyposis coli## suggest that the gene responsible for @@GS##/or @@familial polyposis coli## (@@FPC##) is in the 5q22 region, a result consistent with the findings of linkage studies

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies Useful knowledge : ||| breakpoints definition: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred. ||| case definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| adenomatous polyposis coli definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| findings definition: None ||| Output: [/INST] The breakpoints in the present case and in 3 previously reported 5q- patients with @@adenomatous polyposis coli## suggest that the gene responsible for @@GS##/or @@familial polyposis coli## (@@FPC##) is in the 5q22 region, a result consistent with the findings of linkage studies

The breakpoints in the present case and in 3 previously reported 5q- patients with @@adenomatous polyposis coli## suggest that the gene responsible for @@GS##/or @@familial polyposis coli## (@@FPC##) is in the 5q22 region, a result consistent with the findings of linkage studies

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Type I human complement C2 deficiency. Useful knowledge : ||| Type I human complement C2 deficiency definition: A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease. ||| Output:

@@Type I human complement C2 deficiency##.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Type I human complement C2 deficiency. Useful knowledge : ||| Type I human complement C2 deficiency definition: A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease. ||| Output: [/INST] @@Type I human complement C2 deficiency##.

@@Type I human complement C2 deficiency##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. Useful knowledge : ||| skipping of exon definition: A molecular genetic abnormality indicating the presence of a splice site mutation that results in a loss of transcription of exon 14 of the MET gene. ||| RNA splicing definition: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. ||| Output:

A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. Useful knowledge : ||| skipping of exon definition: A molecular genetic abnormality indicating the presence of a splice site mutation that results in a loss of transcription of exon 14 of the MET gene. ||| RNA splicing definition: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. ||| Output: [/INST] A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.

A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Two variants of a genetic deficiency of complement protein C2 (C2D) have been previously identified. Useful knowledge : ||| variants definition: An alteration or difference from a norm or standard. ||| genetic deficiency definition: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. ||| complement protein C2 definition: A component of the CLASSICAL COMPLEMENT PATHWAY. C2 is cleaved by activated COMPLEMENT C1S into COMPLEMENT C2B and COMPLEMENT C2A. C2a, the COOH-terminal fragment containing a SERINE PROTEASE, combines with COMPLEMENT C4B to form C4b2a (CLASSICAL PATHWAY C3 CONVERTASE) and subsequent C4b2a3b (CLASSICAL PATHWAY C5 CONVERTASE). ||| C2D definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| identified definition: The procedure of having an identity established. ||| Output:

Two variants of a genetic @@deficiency of complement protein C2## (C2D) have been previously identified.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Two variants of a genetic deficiency of complement protein C2 (C2D) have been previously identified. Useful knowledge : ||| variants definition: An alteration or difference from a norm or standard. ||| genetic deficiency definition: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. ||| complement protein C2 definition: A component of the CLASSICAL COMPLEMENT PATHWAY. C2 is cleaved by activated COMPLEMENT C1S into COMPLEMENT C2B and COMPLEMENT C2A. C2a, the COOH-terminal fragment containing a SERINE PROTEASE, combines with COMPLEMENT C4B to form C4b2a (CLASSICAL PATHWAY C3 CONVERTASE) and subsequent C4b2a3b (CLASSICAL PATHWAY C5 CONVERTASE). ||| C2D definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| identified definition: The procedure of having an identity established. ||| Output: [/INST] Two variants of a genetic @@deficiency of complement protein C2## (C2D) have been previously identified.

Two variants of a genetic @@deficiency of complement protein C2## (C2D) have been previously identified.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: No C2 protein translation is detected in type I deficiency, while type II deficiency is characterized by a selective block in C2 secretion. Useful knowledge : ||| No C2 protein definition: This gene is involved in the classical pathway of the complement system. ||| translation definition: Products resulting from the conversion of one language to another. ||| detected definition: <p>The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.</p> ||| type I deficiency definition: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. ||| type II deficiency definition: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. ||| C2 secretion definition: Used for the discharge across the cell membrane, into the extracellular space or ducts, of endogenous substances resulting from the activity of intact cells of glands, tissues, or organs. ||| Output:

No C2 protein translation is detected in type I deficiency, while type II deficiency is characterized by a selective block in C2 secretion.

<s> [INST] The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'.: Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: No C2 protein translation is detected in type I deficiency, while type II deficiency is characterized by a selective block in C2 secretion. Useful knowledge : ||| No C2 protein definition: This gene is involved in the classical pathway of the complement system. ||| translation definition: Products resulting from the conversion of one language to another. ||| detected definition: <p>The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.</p> ||| type I deficiency definition: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. ||| type II deficiency definition: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement. ||| C2 secretion definition: Used for the discharge across the cell membrane, into the extracellular space or ducts, of endogenous substances resulting from the activity of intact cells of glands, tissues, or organs. ||| Output: [/INST] No C2 protein translation is detected in type I deficiency, while type II deficiency is characterized by a selective block in C2 secretion.

No C2 protein translation is detected in type I deficiency, while type II deficiency is characterized by a selective block in C2 secretion.