Datasets:

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: Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplotype). Useful knowledge : ||| Type I C2 deficiency 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. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| associated with definition: Joined in some kind of relationship. ||| B18 definition: None ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| C4A4 definition: This gene plays a role in the progression of the classical complement pathway. ||| C4B2 definition: Human C4B wild-type allele is located in the vicinity of 6p21.3 and is approximately 21 kb in length. This allele, which encodes complement C4-B protein, plays a role in both host defense and inflammation. The expression of this gene is associated with the expression of Chido blood group antigens. Mutation of the gene is associated with complement component C4B deficiency. Copy number variation and polymorphisms are associated with increased risk for systemic lupus erythematosus. ||| haplotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| 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. ||| complotype/haplotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| Output:

@@Type I C2 deficiency## was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of @@C2-deficient## individuals (common complotype/haplotype).

<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 C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplotype). Useful knowledge : ||| Type I C2 deficiency 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. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| associated with definition: Joined in some kind of relationship. ||| B18 definition: None ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| C4A4 definition: This gene plays a role in the progression of the classical complement pathway. ||| C4B2 definition: Human C4B wild-type allele is located in the vicinity of 6p21.3 and is approximately 21 kb in length. This allele, which encodes complement C4-B protein, plays a role in both host defense and inflammation. The expression of this gene is associated with the expression of Chido blood group antigens. Mutation of the gene is associated with complement component C4B deficiency. Copy number variation and polymorphisms are associated with increased risk for systemic lupus erythematosus. ||| haplotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| 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. ||| complotype/haplotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| Output: [/INST] @@Type I C2 deficiency## was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of @@C2-deficient## individuals (common complotype/haplotype).

@@Type I C2 deficiency## was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2; this extended haplotype occurs in over 90% of @@C2-deficient## individuals (common complotype/haplotype).

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 determine the molecular basis of type I C2 deficiency, the C2 gene and cDNA were characterized from a homozygous type I C2-deficient individual with the common associated haplotype/complotype. Useful knowledge : ||| molecular basis definition: Relating to or produced by or consisting of molecules. ||| type I C2 deficiency 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. ||| C2 gene definition: This gene is involved in the classical pathway of the complement system. ||| 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. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| individual with 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. ||| associated definition: Joined in some kind of relationship. ||| haplotype/complotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| Output:

To determine the molecular basis of @@type I C2 deficiency##, the C2 gene and cDNA were characterized from a homozygous @@type I C2-deficient## individual with the common associated haplotype/complotype.

<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 determine the molecular basis of type I C2 deficiency, the C2 gene and cDNA were characterized from a homozygous type I C2-deficient individual with the common associated haplotype/complotype. Useful knowledge : ||| molecular basis definition: Relating to or produced by or consisting of molecules. ||| type I C2 deficiency 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. ||| C2 gene definition: This gene is involved in the classical pathway of the complement system. ||| 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. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| individual with 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. ||| associated definition: Joined in some kind of relationship. ||| haplotype/complotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| Output: [/INST] To determine the molecular basis of @@type I C2 deficiency##, the C2 gene and cDNA were characterized from a homozygous @@type I C2-deficient## individual with the common associated haplotype/complotype.

To determine the molecular basis of @@type I C2 deficiency##, the C2 gene and cDNA were characterized from a homozygous @@type I C2-deficient## individual with the common associated haplotype/complotype.

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 found a 28-base pair deletion in the type I C2Q0 gene, beginning 9 base pairs upstream of the 3-end of exon 6, that generates a C2 transcript with a complete deletion of exon 6 (134 base pair) and a premature termination codon. Useful knowledge : ||| type I C2Q0 gene definition: Polypoid ||| base pairs definition: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. ||| C2 transcript definition: The initial RNA molecule produced by transcription. ||| deletion definition: None ||| base pair definition: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. ||| premature termination codon definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| Output:

We found a 28-base pair deletion in the type I C2Q0 gene, beginning 9 base pairs upstream of the 3-end of exon 6, that generates a C2 transcript with a complete deletion of exon 6 (134 base pair) and a premature termination codon.

<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 found a 28-base pair deletion in the type I C2Q0 gene, beginning 9 base pairs upstream of the 3-end of exon 6, that generates a C2 transcript with a complete deletion of exon 6 (134 base pair) and a premature termination codon. Useful knowledge : ||| type I C2Q0 gene definition: Polypoid ||| base pairs definition: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. ||| C2 transcript definition: The initial RNA molecule produced by transcription. ||| deletion definition: None ||| base pair definition: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. ||| premature termination codon definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| Output: [/INST] We found a 28-base pair deletion in the type I C2Q0 gene, beginning 9 base pairs upstream of the 3-end of exon 6, that generates a C2 transcript with a complete deletion of exon 6 (134 base pair) and a premature termination codon.

We found a 28-base pair deletion in the type I C2Q0 gene, beginning 9 base pairs upstream of the 3-end of exon 6, that generates a C2 transcript with a complete deletion of exon 6 (134 base pair) and a premature termination codon.

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 studies of eight kindred, the 28-base pair deletion was observed in all C2Q0 alleles associated with the common type I deficient complotype/haplotype; this deletion was not present in normal C2 nor in type II C2-deficient genes. Useful knowledge : ||| studies definition: None ||| kindred definition: None ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| associated with definition: Joined in some kind of relationship. ||| type I deficient definition: A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. ||| complotype/haplotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| deletion definition: None ||| Output:

In studies of eight kindred, the 28-base pair deletion was observed in all C2Q0 alleles associated with the common type I deficient complotype/haplotype; this deletion was not present in normal C2 nor in @@type II C2-deficient## genes.

<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 studies of eight kindred, the 28-base pair deletion was observed in all C2Q0 alleles associated with the common type I deficient complotype/haplotype; this deletion was not present in normal C2 nor in type II C2-deficient genes. Useful knowledge : ||| studies definition: None ||| kindred definition: None ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| associated with definition: Joined in some kind of relationship. ||| type I deficient definition: A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. ||| complotype/haplotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| deletion definition: None ||| Output: [/INST] In studies of eight kindred, the 28-base pair deletion was observed in all C2Q0 alleles associated with the common type I deficient complotype/haplotype; this deletion was not present in normal C2 nor in @@type II C2-deficient## genes.

In studies of eight kindred, the 28-base pair deletion was observed in all C2Q0 alleles associated with the common type I deficient complotype/haplotype; this deletion was not present in normal C2 nor in @@type II C2-deficient## genes.

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 demonstrate that 1) type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2, suggesting that all C2-deficient individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3) type II C2 deficiency is caused by a different, as yet uncharacterized, molecular genetic defect.. Useful knowledge : ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| 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. ||| 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. ||| premature termination codon definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| type I C2Q0 gene definition: Polypoid ||| associated with definition: Joined in some kind of relationship. ||| HLA haplotype/complotype A25 definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| B18 definition: None ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| C4A4 definition: This gene plays a role in the progression of the classical complement pathway. ||| C4B2 definition: Human C4B wild-type allele is located in the vicinity of 6p21.3 and is approximately 21 kb in length. This allele, which encodes complement C4-B protein, plays a role in both host defense and inflammation. The expression of this gene is associated with the expression of Chido blood group antigens. Mutation of the gene is associated with complement component C4B deficiency. Copy number variation and polymorphisms are associated with increased risk for systemic lupus erythematosus. ||| 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. ||| haplotype/complotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| type II C2 deficiency 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. ||| uncharacterized definition: The act of describing distinctive characteristics or essential features. ||| molecular genetic defect definition: The study of the flow and regulation of genetic information between DNA, RNA, and protein molecules. ||| Output:

These data demonstrate that 1) @@type I human complement C2 deficiency## is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2, suggesting that all @@C2-deficient## individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3) @@type II C2 deficiency## is caused by a different, as yet uncharacterized, molecular @@genetic defect##..

<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 demonstrate that 1) type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2, suggesting that all C2-deficient individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3) type II C2 deficiency is caused by a different, as yet uncharacterized, molecular genetic defect.. Useful knowledge : ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| 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. ||| 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. ||| premature termination codon definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| type I C2Q0 gene definition: Polypoid ||| associated with definition: Joined in some kind of relationship. ||| HLA haplotype/complotype A25 definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| B18 definition: None ||| C2Q0 definition: This gene is involved in the classical pathway of the complement system. ||| C4A4 definition: This gene plays a role in the progression of the classical complement pathway. ||| C4B2 definition: Human C4B wild-type allele is located in the vicinity of 6p21.3 and is approximately 21 kb in length. This allele, which encodes complement C4-B protein, plays a role in both host defense and inflammation. The expression of this gene is associated with the expression of Chido blood group antigens. Mutation of the gene is associated with complement component C4B deficiency. Copy number variation and polymorphisms are associated with increased risk for systemic lupus erythematosus. ||| 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. ||| haplotype/complotype definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| type II C2 deficiency 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. ||| uncharacterized definition: The act of describing distinctive characteristics or essential features. ||| molecular genetic defect definition: The study of the flow and regulation of genetic information between DNA, RNA, and protein molecules. ||| Output: [/INST] These data demonstrate that 1) @@type I human complement C2 deficiency## is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2, suggesting that all @@C2-deficient## individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3) @@type II C2 deficiency## is caused by a different, as yet uncharacterized, molecular @@genetic defect##..

These data demonstrate that 1) @@type I human complement C2 deficiency## is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25, B18, C2Q0, BfS, C4A4, C4B2, Drw2, suggesting that all @@C2-deficient## individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3) @@type II C2 deficiency## is caused by a different, as yet uncharacterized, molecular @@genetic defect##..

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: (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Useful knowledge : ||| YAC transgenics definition: Experimental organism whose genome has been altered by the transfer of a gene or genes from another species or breed. ||| behavioral definition: The observable response of a man or animal to a situation. ||| physical features definition: The physical location of a gene feature expressed as chromosome and start and end base positions. ||| Output:

(Over)correction of @@FMR1 deficiency## with YAC transgenics: behavioral and physical features.

<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: (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Useful knowledge : ||| YAC transgenics definition: Experimental organism whose genome has been altered by the transfer of a gene or genes from another species or breed. ||| behavioral definition: The observable response of a man or animal to a situation. ||| physical features definition: The physical location of a gene feature expressed as chromosome and start and end base positions. ||| Output: [/INST] (Over)correction of @@FMR1 deficiency## with YAC transgenics: behavioral and physical features.

(Over)correction of @@FMR1 deficiency## with YAC transgenics: behavioral and physical features.

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: Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene. Useful knowledge : ||| Fragile X syndrome definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| 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. ||| loss definition: A gradual decline in amount or activity. ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| FMR1 gene definition: This gene may be involved in the regulation of mRNA trafficking. ||| Output:

@@Fragile X syndrome## is a common cause of @@mental retardation## involving loss of expression of the FMR1 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: Fragile X syndrome is a common cause of mental retardation involving loss of expression of the FMR1 gene. Useful knowledge : ||| Fragile X syndrome definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| 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. ||| loss definition: A gradual decline in amount or activity. ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| FMR1 gene definition: This gene may be involved in the regulation of mRNA trafficking. ||| Output: [/INST] @@Fragile X syndrome## is a common cause of @@mental retardation## involving loss of expression of the FMR1 gene.

@@Fragile X syndrome## is a common cause of @@mental retardation## involving loss of expression of the FMR1 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: The role of FMR1 remains undetermined but the protein appears to be involved in RNA metabolism. Useful knowledge : ||| FMR1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| 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. ||| RNA metabolism definition: The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. [ISBN:0198506732] ||| Output:

The role of FMR1 remains undetermined but the protein appears to be involved in RNA metabolism.

<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 role of FMR1 remains undetermined but the protein appears to be involved in RNA metabolism. Useful knowledge : ||| FMR1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| 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. ||| RNA metabolism definition: The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. [ISBN:0198506732] ||| Output: [/INST] The role of FMR1 remains undetermined but the protein appears to be involved in RNA metabolism.

The role of FMR1 remains undetermined but the protein appears to be involved in RNA metabolism.

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: Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as macroorchidism and behavioral abnormalities. Useful knowledge : ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout mice definition: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| similarities definition: The quality of being alike; having characteristics in common. ||| humans definition: Members of the species Homo sapiens. ||| macroorchidism definition: The presence of abnormally large testes. [HPO:probinson] ||| behavioral abnormalities definition: Troublesome or disruptive behavioral displays. ||| Output:

Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as @@macroorchidism## and behavioral 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: Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as macroorchidism and behavioral abnormalities. Useful knowledge : ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout mice definition: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| similarities definition: The quality of being alike; having characteristics in common. ||| humans definition: Members of the species Homo sapiens. ||| macroorchidism definition: The presence of abnormally large testes. [HPO:probinson] ||| behavioral abnormalities definition: Troublesome or disruptive behavioral displays. ||| Output: [/INST] Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as @@macroorchidism## and behavioral abnormalities.

Fmr1 knockout mice exhibit a phenotype with some similarities to humans, such as @@macroorchidism## and behavioral 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: As a step toward understanding the function of FMR1 and the determination of the potential for therapeutic approaches to fragile X syndrome, yeast artificial chromosome (YAC) transgenic mice were generated in order to determine whether the Fmr1 knockout mouse phenotype could be rescued. Useful knowledge : ||| function definition: Used with organs, tissues, and cells of unicellular and multicellular organisms for normal function. It is used also with biochemical substances, endogenously produced, for their physiologic role. ||| FMR1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| determination definition: The final judgment in a legal proceeding. ||| potential definition: The likelihood or possibility that a specific state or condition will exist or that an action will occur. ||| therapeutic approaches definition: Procedures concerned with the remedial treatment or prevention of diseases. ||| fragile X syndrome definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| yeast definition: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement. ||| transgenic mice definition: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN. ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout definition: Inactivation of specific genes by homologous recombination. Knockouts are often created in laboratory organisms such as yeast or mice so that scientists can study the knockout organism as a model for a particular disease. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

As a step toward understanding the function of FMR1 and the determination of the potential for therapeutic approaches to @@fragile X syndrome##, yeast artificial chromosome (YAC) transgenic mice were generated in order to determine whether the Fmr1 knockout mouse phenotype could be rescued.

<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: As a step toward understanding the function of FMR1 and the determination of the potential for therapeutic approaches to fragile X syndrome, yeast artificial chromosome (YAC) transgenic mice were generated in order to determine whether the Fmr1 knockout mouse phenotype could be rescued. Useful knowledge : ||| function definition: Used with organs, tissues, and cells of unicellular and multicellular organisms for normal function. It is used also with biochemical substances, endogenously produced, for their physiologic role. ||| FMR1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| determination definition: The final judgment in a legal proceeding. ||| potential definition: The likelihood or possibility that a specific state or condition will exist or that an action will occur. ||| therapeutic approaches definition: Procedures concerned with the remedial treatment or prevention of diseases. ||| fragile X syndrome definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| yeast definition: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement. ||| transgenic mice definition: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN. ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout definition: Inactivation of specific genes by homologous recombination. Knockouts are often created in laboratory organisms such as yeast or mice so that scientists can study the knockout organism as a model for a particular disease. ||| 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] As a step toward understanding the function of FMR1 and the determination of the potential for therapeutic approaches to @@fragile X syndrome##, yeast artificial chromosome (YAC) transgenic mice were generated in order to determine whether the Fmr1 knockout mouse phenotype could be rescued.

As a step toward understanding the function of FMR1 and the determination of the potential for therapeutic approaches to @@fragile X syndrome##, yeast artificial chromosome (YAC) transgenic mice were generated in order to determine whether the Fmr1 knockout mouse phenotype could be rescued.

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: Several transgenic lines were generated that carried the entire FMR1 locus with extensive amounts of flanking sequence. Useful knowledge : ||| transgenic lines definition: Experimental organism whose genome has been altered by the transfer of a gene or genes from another species or breed. ||| FMR1 locus definition: This gene may be involved in the regulation of mRNA trafficking. ||| flanking sequence definition: Nucleotide sequences repeated on both the 5' and 3' ends of a sequence under consideration. For example, the hallmarks of a transposon are that it is flanked by inverted repeats on each end and the inverted repeats are flanked by direct repeats. The Delta element of Ty retrotransposons and LTRs (long terminal repeats) are examples of this concept. ||| Output:

Several transgenic lines were generated that carried the entire FMR1 locus with extensive amounts of flanking sequence.

<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: Several transgenic lines were generated that carried the entire FMR1 locus with extensive amounts of flanking sequence. Useful knowledge : ||| transgenic lines definition: Experimental organism whose genome has been altered by the transfer of a gene or genes from another species or breed. ||| FMR1 locus definition: This gene may be involved in the regulation of mRNA trafficking. ||| flanking sequence definition: Nucleotide sequences repeated on both the 5' and 3' ends of a sequence under consideration. For example, the hallmarks of a transposon are that it is flanked by inverted repeats on each end and the inverted repeats are flanked by direct repeats. The Delta element of Ty retrotransposons and LTRs (long terminal repeats) are examples of this concept. ||| Output: [/INST] Several transgenic lines were generated that carried the entire FMR1 locus with extensive amounts of flanking sequence.

Several transgenic lines were generated that carried the entire FMR1 locus with extensive amounts of flanking sequence.

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 observed that the YAC transgene supported production of the human protein (FMRP) which was present at levels 10 to 15 times that of endogenous protein and was expressed in a cell- and tissue-specific manner. Useful knowledge : ||| YAC transgene definition: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES. ||| production definition: The creation of goods and services by a manufacturing process. ||| human protein definition: None ||| FMRP definition: A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME. ||| levels definition: A position on a scale measuring intensity, quality, or amount. ||| endogenous definition: None ||| 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. ||| expressed definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| tissue-specific manner definition: Alternate splicing which is specific and typical for a given tissue. ||| Output:

We observed that the YAC transgene supported production of the human protein (FMRP) which was present at levels 10 to 15 times that of endogenous protein and was expressed in a cell- and tissue-specific manner.

<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 observed that the YAC transgene supported production of the human protein (FMRP) which was present at levels 10 to 15 times that of endogenous protein and was expressed in a cell- and tissue-specific manner. Useful knowledge : ||| YAC transgene definition: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES. ||| production definition: The creation of goods and services by a manufacturing process. ||| human protein definition: None ||| FMRP definition: A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME. ||| levels definition: A position on a scale measuring intensity, quality, or amount. ||| endogenous definition: None ||| 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. ||| expressed definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| tissue-specific manner definition: Alternate splicing which is specific and typical for a given tissue. ||| Output: [/INST] We observed that the YAC transgene supported production of the human protein (FMRP) which was present at levels 10 to 15 times that of endogenous protein and was expressed in a cell- and tissue-specific manner.

We observed that the YAC transgene supported production of the human protein (FMRP) which was present at levels 10 to 15 times that of endogenous protein and was expressed in a cell- and tissue-specific manner.

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: Macro-orchidism was absent in knockout mice carrying the YAC transgene indicating functional rescue by the human protein. Useful knowledge : ||| Macro-orchidism definition: The presence of abnormally large testes. [HPO:probinson] ||| absent definition: Not existing in a specified place at a specified time. ||| knockout mice definition: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes. ||| YAC transgene definition: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES. ||| human protein definition: None ||| Output:

Macro-orchidism was absent in knockout mice carrying the YAC transgene indicating functional rescue by the human 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: Macro-orchidism was absent in knockout mice carrying the YAC transgene indicating functional rescue by the human protein. Useful knowledge : ||| Macro-orchidism definition: The presence of abnormally large testes. [HPO:probinson] ||| absent definition: Not existing in a specified place at a specified time. ||| knockout mice definition: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes. ||| YAC transgene definition: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES. ||| human protein definition: None ||| Output: [/INST] Macro-orchidism was absent in knockout mice carrying the YAC transgene indicating functional rescue by the human protein.

Macro-orchidism was absent in knockout mice carrying the YAC transgene indicating functional rescue by the human 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: Given the complex behavioral phenotype in fragile X patients and the mild phenotype previously reported for the Fmr1 knockout mouse, we performed a more thorough evaluation of the Fmr1 knockout phenotype using additional behavioral assays that had not previously been reported for this animal model. Useful knowledge : ||| complex definition: Hard, involved or complicated, elaborate, having many parts. ||| behavioral definition: The observable response of a man or animal to a situation. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| fragile X definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| mild definition: None ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout mouse definition: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes. ||| evaluation definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout definition: Inactivation of specific genes by homologous recombination. Knockouts are often created in laboratory organisms such as yeast or mice so that scientists can study the knockout organism as a model for a particular disease. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| behavioral assays definition: The observable response of a man or animal to a situation. ||| animal model definition: An animal that is amenable to experimentation and whose physiological or pathologic mechanisms are sufficiently similar to those of a human for the animal to serve as a model. ||| Output:

Given the complex behavioral phenotype in @@fragile X## patients and the mild phenotype previously reported for the Fmr1 knockout mouse, we performed a more thorough evaluation of the Fmr1 knockout phenotype using additional behavioral assays that had not previously been reported for this animal model.

<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: Given the complex behavioral phenotype in fragile X patients and the mild phenotype previously reported for the Fmr1 knockout mouse, we performed a more thorough evaluation of the Fmr1 knockout phenotype using additional behavioral assays that had not previously been reported for this animal model. Useful knowledge : ||| complex definition: Hard, involved or complicated, elaborate, having many parts. ||| behavioral definition: The observable response of a man or animal to a situation. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| fragile X definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| mild definition: None ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout mouse definition: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes. ||| evaluation definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| Fmr1 definition: This gene may be involved in the regulation of mRNA trafficking. ||| knockout definition: Inactivation of specific genes by homologous recombination. Knockouts are often created in laboratory organisms such as yeast or mice so that scientists can study the knockout organism as a model for a particular disease. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| behavioral assays definition: The observable response of a man or animal to a situation. ||| animal model definition: An animal that is amenable to experimentation and whose physiological or pathologic mechanisms are sufficiently similar to those of a human for the animal to serve as a model. ||| Output: [/INST] Given the complex behavioral phenotype in @@fragile X## patients and the mild phenotype previously reported for the Fmr1 knockout mouse, we performed a more thorough evaluation of the Fmr1 knockout phenotype using additional behavioral assays that had not previously been reported for this animal model.

Given the complex behavioral phenotype in @@fragile X## patients and the mild phenotype previously reported for the Fmr1 knockout mouse, we performed a more thorough evaluation of the Fmr1 knockout phenotype using additional behavioral assays that had not previously been reported for this animal model.

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 mouse displayed reduced anxiety-related responses with increased exploratory behavior. Useful knowledge : ||| mouse definition: The common mouse species, Mus musculus. ||| reduced definition: Made less in size or amount or degree. ||| increased definition: None ||| exploratory behavior definition: The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity. ||| Output:

The mouse displayed reduced @@anxiety##-related responses with increased exploratory behavior.

<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 mouse displayed reduced anxiety-related responses with increased exploratory behavior. Useful knowledge : ||| mouse definition: The common mouse species, Mus musculus. ||| reduced definition: Made less in size or amount or degree. ||| increased definition: None ||| exploratory behavior definition: The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity. ||| Output: [/INST] The mouse displayed reduced @@anxiety##-related responses with increased exploratory behavior.

The mouse displayed reduced @@anxiety##-related responses with increased exploratory behavior.

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: FMR1 YAC transgenic mice overexpressing the human protein did produce opposing behavioral responses and additional abnormal behaviors were also observed. Useful knowledge : ||| overexpressing 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. ||| human protein definition: None ||| behavioral responses definition: Any process that results in a change in the behavior of an organism as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli. [GOC:jid] ||| abnormal behaviors definition: Troublesome or disruptive behavioral displays. ||| Output:

FMR1 YAC transgenic mice overexpressing the human protein did produce opposing behavioral responses and additional abnormal behaviors were also 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: FMR1 YAC transgenic mice overexpressing the human protein did produce opposing behavioral responses and additional abnormal behaviors were also observed. Useful knowledge : ||| overexpressing 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. ||| human protein definition: None ||| behavioral responses definition: Any process that results in a change in the behavior of an organism as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli. [GOC:jid] ||| abnormal behaviors definition: Troublesome or disruptive behavioral displays. ||| Output: [/INST] FMR1 YAC transgenic mice overexpressing the human protein did produce opposing behavioral responses and additional abnormal behaviors were also observed.

FMR1 YAC transgenic mice overexpressing the human protein did produce opposing behavioral responses and additional abnormal behaviors were also 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: These findings have significant implications for gene therapy for fragile X syndrome since overexpression of the gene may harbor its own phenotype.. Useful knowledge : ||| findings definition: None ||| gene therapy definition: The processes by which highly specific gene sequences in a host cell are targeted and regulated for the purpose of reversing and or curing a disease. ||| fragile X syndrome definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| 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. ||| 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. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

These findings have significant implications for gene therapy for @@fragile X syndrome## since overexpression of the gene may harbor its own 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: These findings have significant implications for gene therapy for fragile X syndrome since overexpression of the gene may harbor its own phenotype.. Useful knowledge : ||| findings definition: None ||| gene therapy definition: The processes by which highly specific gene sequences in a host cell are targeted and regulated for the purpose of reversing and or curing a disease. ||| fragile X syndrome definition: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) ||| 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. ||| 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. ||| 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] These findings have significant implications for gene therapy for @@fragile X syndrome## since overexpression of the gene may harbor its own phenotype..

These findings have significant implications for gene therapy for @@fragile X syndrome## since overexpression of the gene may harbor its own 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: Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Useful knowledge : ||| Fabry disease definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| 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. ||| novel definition: Having no previous example or precedent or parallel; of a kind not seen before. ||| alpha-galactosidase A mutations definition: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids. ||| molecular carrier definition: Directly binding to a specific ion or molecule and delivering it either to an acceptor molecule or to a specific location. [GOC:molecular_function_refactoring, GOC:pdt] ||| detection definition: The activity of perceiving, discerning, discovering or identifying. ||| mismatches definition: A failure to correspond or match; to match unsuitably or inaccurately. ||| Output:

@@Fabry disease##: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

<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: Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Useful knowledge : ||| Fabry disease definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| 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. ||| novel definition: Having no previous example or precedent or parallel; of a kind not seen before. ||| alpha-galactosidase A mutations definition: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids. ||| molecular carrier definition: Directly binding to a specific ion or molecule and delivering it either to an acceptor molecule or to a specific location. [GOC:molecular_function_refactoring, GOC:pdt] ||| detection definition: The activity of perceiving, discerning, discovering or identifying. ||| mismatches definition: A failure to correspond or match; to match unsuitably or inaccurately. ||| Output: [/INST] @@Fabry disease##: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

@@Fabry disease##: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

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: Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene (GLA). Useful knowledge : ||| Fabry disease definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| FD definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| angiokeratoma corporis diffusum definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| glycosphingolipid metabolism definition: The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. [ISBN:0198547684] ||| defects definition: None ||| lysosomal alpha-galactosidase A gene definition: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids. ||| GLA definition: An omega-6 fatty acid produced in the body as the delta 6-desaturase metabolite of linoleic acid. It is converted to dihomo-gamma-linolenic acid, a biosynthetic precursor of monoenoic prostaglandins such as PGE1. (From Merck Index, 11th ed) ||| Output:

@@Fabry disease## (@@FD##) (@@angiokeratoma corporis diffusum##) is an @@X-linked inborn error of glycosphingolipid metabolism## caused by defects in the lysosomal alpha-galactosidase A gene (GLA).

<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: Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene (GLA). Useful knowledge : ||| Fabry disease definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| FD definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| angiokeratoma corporis diffusum definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| glycosphingolipid metabolism definition: The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. [ISBN:0198547684] ||| defects definition: None ||| lysosomal alpha-galactosidase A gene definition: An enzyme that catalyzes the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-galactosides including galactose oligosaccharides, galactomannans, and galactolipids. ||| GLA definition: An omega-6 fatty acid produced in the body as the delta 6-desaturase metabolite of linoleic acid. It is converted to dihomo-gamma-linolenic acid, a biosynthetic precursor of monoenoic prostaglandins such as PGE1. (From Merck Index, 11th ed) ||| Output: [/INST] @@Fabry disease## (@@FD##) (@@angiokeratoma corporis diffusum##) is an @@X-linked inborn error of glycosphingolipid metabolism## caused by defects in the lysosomal alpha-galactosidase A gene (GLA).

@@Fabry disease## (@@FD##) (@@angiokeratoma corporis diffusum##) is an @@X-linked inborn error of glycosphingolipid metabolism## caused by defects in the lysosomal alpha-galactosidase A gene (GLA).

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 enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties. Useful knowledge : ||| systemic definition: Affecting an entire system. ||| accumulation definition: A state characterized by the gradual increase in entities or substances. ||| neutral glycosphingolipids definition: A subclass of GLYCOSPHINGOLIPIDS containing one or more sugars within their head group connected directly to a ceramide moiety. They consist of monoglycosyl-, and oligoglycosylsphingoids and monoglycosyl- and oligoglycosylceramides. ||| terminal definition: None ||| Output:

The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties.

<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 enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties. Useful knowledge : ||| systemic definition: Affecting an entire system. ||| accumulation definition: A state characterized by the gradual increase in entities or substances. ||| neutral glycosphingolipids definition: A subclass of GLYCOSPHINGOLIPIDS containing one or more sugars within their head group connected directly to a ceramide moiety. They consist of monoglycosyl-, and oligoglycosylsphingoids and monoglycosyl- and oligoglycosylceramides. ||| terminal definition: None ||| Output: [/INST] The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties.

The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids with terminal alpha-galactosyl moieties.

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: Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain. Useful knowledge : ||| Clinically 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. ||| hemizygous males definition: Having only one copy of a particular gene or genetic region. ||| angiokeratoma definition: A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis. ||| severe acroparesthesia definition: A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. [] ||| renal failure definition: A severe irreversible decline in the ability of kidneys to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. ||| vasculopathy definition: Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. ||| heart definition: The hollow, muscular organ that maintains the circulation of the blood. ||| brain 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. ||| Output:

Clinically, affected hemizygous males have @@angiokeratoma##, @@severe acroparesthesia##, @@renal failure##, and @@vasculopathy of the heart and brain##.

<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: Clinically, affected hemizygous males have angiokeratoma, severe acroparesthesia, renal failure, and vasculopathy of the heart and brain. Useful knowledge : ||| Clinically 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. ||| hemizygous males definition: Having only one copy of a particular gene or genetic region. ||| angiokeratoma definition: A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis. ||| severe acroparesthesia definition: A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. [] ||| renal failure definition: A severe irreversible decline in the ability of kidneys to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. ||| vasculopathy definition: Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. ||| heart definition: The hollow, muscular organ that maintains the circulation of the blood. ||| brain 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. ||| Output: [/INST] Clinically, affected hemizygous males have @@angiokeratoma##, @@severe acroparesthesia##, @@renal failure##, and @@vasculopathy of the heart and brain##.

Clinically, affected hemizygous males have @@angiokeratoma##, @@severe acroparesthesia##, @@renal failure##, and @@vasculopathy of the heart and brain##.

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: While demonstration of alpha-galactosidase deficiency in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling. Useful knowledge : ||| alpha-galactosidase deficiency definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| leukocytes definition: White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). ||| diagnostic 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. ||| 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. ||| enzymatic detection definition: A chemical process, typically mediated by an enzyme, in which one or more substances (a substrate) are transformed by covalent modification into another substance(s) (a product) or in which the state of a substance is transformed. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| carriers definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| inconclusive definition: Cannot distinguish between two or more possible values in the current context. ||| random definition: Governed by or depending on chance; lacking any definite plan or order or purpose. ||| X-chromosomal definition: Genes that are located on the X CHROMOSOME. ||| inactivation definition: To cause the elimination of an activity. ||| accurate definition: The quality of nearness to the truth or the true value. ||| genetic counseling definition: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. ||| Output:

While demonstration of @@alpha-galactosidase deficiency## in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling.

<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: While demonstration of alpha-galactosidase deficiency in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling. Useful knowledge : ||| alpha-galactosidase deficiency definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| leukocytes definition: White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). ||| diagnostic 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. ||| 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. ||| enzymatic detection definition: A chemical process, typically mediated by an enzyme, in which one or more substances (a substrate) are transformed by covalent modification into another substance(s) (a product) or in which the state of a substance is transformed. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| carriers definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| inconclusive definition: Cannot distinguish between two or more possible values in the current context. ||| random definition: Governed by or depending on chance; lacking any definite plan or order or purpose. ||| X-chromosomal definition: Genes that are located on the X CHROMOSOME. ||| inactivation definition: To cause the elimination of an activity. ||| accurate definition: The quality of nearness to the truth or the true value. ||| genetic counseling definition: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. ||| Output: [/INST] While demonstration of @@alpha-galactosidase deficiency## in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling.

While demonstration of @@alpha-galactosidase deficiency## in leukocytes is diagnostic in affected males, enzymatic detection of female carriers is often inconclusive, due to random X-chromosomal inactivation, underlining the need of molecular investigations for accurate genetic counseling.

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: By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD. Useful knowledge : ||| chemical cleavage definition: The breaking of a chemical bond in a molecule resulting in smaller molecules. ||| mismatches definition: A failure to correspond or match; to match unsuitably or inaccurately. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| 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. ||| alpha-Gal A deficiency definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| 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. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| FD definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| Output:

By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying @@alpha-Gal A deficiency## in 16 individuals from six unrelated families with @@FD##.

<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: By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD. Useful knowledge : ||| chemical cleavage definition: The breaking of a chemical bond in a molecule resulting in smaller molecules. ||| mismatches definition: A failure to correspond or match; to match unsuitably or inaccurately. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| 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. ||| alpha-Gal A deficiency definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| 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. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| FD definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. ||| Output: [/INST] By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying @@alpha-Gal A deficiency## in 16 individuals from six unrelated families with @@FD##.

By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying @@alpha-Gal A deficiency## in 16 individuals from six unrelated families with @@FD##.

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 mutational spectrum included five missense mutations (C202W, C223G, N224D, R301Q, and Q327K) and one splice-site mutation [IVS3 G (-1) -- > C]. Useful knowledge : ||| mutational spectrum definition: The range of mutations that have occurred to a gene, or at a specific locus. ||| 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) ||| 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. ||| Output:

The mutational spectrum included five missense mutations (C202W, C223G, N224D, R301Q, and Q327K) and one splice-site mutation [IVS3 G (-1) -- > C].

<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 mutational spectrum included five missense mutations (C202W, C223G, N224D, R301Q, and Q327K) and one splice-site mutation [IVS3 G (-1) -- > C]. Useful knowledge : ||| mutational spectrum definition: The range of mutations that have occurred to a gene, or at a specific locus. ||| 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) ||| 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. ||| Output: [/INST] The mutational spectrum included five missense mutations (C202W, C223G, N224D, R301Q, and Q327K) and one splice-site mutation [IVS3 G (-1) -- > C].

The mutational spectrum included five missense mutations (C202W, C223G, N224D, R301Q, and Q327K) and one splice-site mutation [IVS3 G (-1) -- > C].

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: Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation. Useful knowledge : ||| Studies definition: None ||| 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. ||| pre-mRNA splicing definition: None ||| alteration definition: The act or process of modifying something. ||| mRNA translational reading frame definition: The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. [GOC:go_curators] ||| generation definition: A single step in the line of descent from a common ancestor. ||| premature termination codon of translation definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| Output:

Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation.

<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: Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation. Useful knowledge : ||| Studies definition: None ||| 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. ||| pre-mRNA splicing definition: None ||| alteration definition: The act or process of modifying something. ||| mRNA translational reading frame definition: The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. [GOC:go_curators] ||| generation definition: A single step in the line of descent from a common ancestor. ||| premature termination codon of translation definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| Output: [/INST] Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation.

Studies at the mRNA level showed that the latter led to altered pre-mRNA splicing with consequent alteration of the mRNA translational reading frame and generation of a premature termination codon of translation.

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: By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity.. Useful knowledge : ||| carrier status definition: None ||| assessed definition: The final result of a determination of the value, significance, or extent of. ||| at-risk definition: Population groups with an increased likelihood of a disease or other health issue, eg smoking, drug use, teen pregnancy. ||| females definition: An individual who reports belonging to the cultural gender role distinction of female. ||| tested definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| enzymatic definition: A chemical process, typically mediated by an enzyme, in which one or more substances (a substrate) are transformed by covalent modification into another substance(s) (a product) or in which the state of a substance is transformed. ||| dosages definition: A quantity of an agent (such as substance or energy) administered, taken, or absorbed at one 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. ||| heterozygosity definition: An individual having different alleles at one or more loci regarding a specific character. ||| Output:

By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity..

<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: By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity.. Useful knowledge : ||| carrier status definition: None ||| assessed definition: The final result of a determination of the value, significance, or extent of. ||| at-risk definition: Population groups with an increased likelihood of a disease or other health issue, eg smoking, drug use, teen pregnancy. ||| females definition: An individual who reports belonging to the cultural gender role distinction of female. ||| tested definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| enzymatic definition: A chemical process, typically mediated by an enzyme, in which one or more substances (a substrate) are transformed by covalent modification into another substance(s) (a product) or in which the state of a substance is transformed. ||| dosages definition: A quantity of an agent (such as substance or energy) administered, taken, or absorbed at one 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. ||| heterozygosity definition: An individual having different alleles at one or more loci regarding a specific character. ||| Output: [/INST] By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity..

By use of this strategy, carrier status was accurately assessed in all seven at-risk females tested, whereas enzymatic dosages failed to diagnose or exclude heterozygosity..

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: Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Useful knowledge : ||| Evidence definition: Knowledge on which to base belief. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| bipolar disorder definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| Output:

Evidence for linkage of @@bipolar disorder## to chromosome 18 with a parent-of-origin effect.

<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: Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Useful knowledge : ||| Evidence definition: Knowledge on which to base belief. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| bipolar disorder definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| Output: [/INST] Evidence for linkage of @@bipolar disorder## to chromosome 18 with a parent-of-origin effect.

Evidence for linkage of @@bipolar disorder## to chromosome 18 with a parent-of-origin effect.

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 susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder (BPAD). Useful knowledge : ||| susceptibility gene definition: Mutated forms of genes which encode proteins that are essential for the control and maintenance of normal cellular processes. Inherited or somatic mutations in the wild-type form of these genes alters control of their expression, resulting in a change in control of the cell cycle. Individuals who harbor cancer-predisposing genes require fewer somatic mutations for transformation of a particular cell, thereby predisposing them to the development of cancer. ||| chromosome 18 definition: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ||| bipolar affective disorder definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| BPAD definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| Output:

A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for @@bipolar affective disorder## (@@BPAD##).

<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 susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder (BPAD). Useful knowledge : ||| susceptibility gene definition: Mutated forms of genes which encode proteins that are essential for the control and maintenance of normal cellular processes. Inherited or somatic mutations in the wild-type form of these genes alters control of their expression, resulting in a change in control of the cell cycle. Individuals who harbor cancer-predisposing genes require fewer somatic mutations for transformation of a particular cell, thereby predisposing them to the development of cancer. ||| chromosome 18 definition: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ||| bipolar affective disorder definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| BPAD definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| Output: [/INST] A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for @@bipolar affective disorder## (@@BPAD##).

A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for @@bipolar affective disorder## (@@BPAD##).

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 studied 28 nuclear families selected for apparent unilineal transmission of the BPAD phenotype, by using 31 polymorphic markers spanning chromosome 18. Useful knowledge : ||| nuclear families definition: A family composed of spouses and their children. ||| apparent definition: None ||| unilineal transmission definition: A conductor designed to transfer power or signal from one location to another. ||| BPAD definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| chromosome 18 definition: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ||| Output:

We have studied 28 nuclear families selected for apparent unilineal transmission of the @@BPAD## phenotype, by using 31 polymorphic markers spanning chromosome 18.

<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 studied 28 nuclear families selected for apparent unilineal transmission of the BPAD phenotype, by using 31 polymorphic markers spanning chromosome 18. Useful knowledge : ||| nuclear families definition: A family composed of spouses and their children. ||| apparent definition: None ||| unilineal transmission definition: A conductor designed to transfer power or signal from one location to another. ||| BPAD definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| chromosome 18 definition: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ||| Output: [/INST] We have studied 28 nuclear families selected for apparent unilineal transmission of the @@BPAD## phenotype, by using 31 polymorphic markers spanning chromosome 18.

We have studied 28 nuclear families selected for apparent unilineal transmission of the @@BPAD## phenotype, by using 31 polymorphic markers spanning chromosome 18.

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: Evidence for linkage was tested with affected-sib-pair and LOD score methods under two definitions of the affected phenotype. Useful knowledge : ||| Evidence definition: Knowledge on which to base belief. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| tested definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| LOD score methods definition: A series of steps taken in order to conduct research. ||| definitions definition: <b>Definition:</b>A definition of a kind of act that can occur .<b>OpenIssue:</b>The semantic constructs embodied in DEF and CRT moods seem indistinguishable, and their uses can readily be determined by the context in which these are used. Therefore, this OpenIssue has been created to declare that it is likely that ActMood.DEF will be "retired" in the future in favor of the more general ActMood.CRT. ||| affected definition: To be influenced by or changed. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

Evidence for linkage was tested with affected-sib-pair and LOD score methods under two definitions of the affected 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: Evidence for linkage was tested with affected-sib-pair and LOD score methods under two definitions of the affected phenotype. Useful knowledge : ||| Evidence definition: Knowledge on which to base belief. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| tested definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| LOD score methods definition: A series of steps taken in order to conduct research. ||| definitions definition: <b>Definition:</b>A definition of a kind of act that can occur .<b>OpenIssue:</b>The semantic constructs embodied in DEF and CRT moods seem indistinguishable, and their uses can readily be determined by the context in which these are used. Therefore, this OpenIssue has been created to declare that it is likely that ActMood.DEF will be "retired" in the future in favor of the more general ActMood.CRT. ||| affected definition: To be influenced by or changed. ||| 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] Evidence for linkage was tested with affected-sib-pair and LOD score methods under two definitions of the affected phenotype.

Evidence for linkage was tested with affected-sib-pair and LOD score methods under two definitions of the affected 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: The affected-sibpair analyses indicated excess allele sharing for markers on 18p within the region reported previously. Useful knowledge : ||| allele definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| markers definition: A medical device designed to mark an anatomic location. ||| 18p definition: Proximal (short) arm of chromosome 18 ||| region definition: The continents and countries situated on those continents; the UNITED STATES and each of the constituent states arranged by region; CANADA and each of its provinces; AUSTRALIA and each of its states; the major bodies of water and major islands on both hemispheres; and selected major cities. ||| Output:

The affected-sibpair analyses indicated excess allele sharing for markers on 18p within the region reported previously.

<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 affected-sibpair analyses indicated excess allele sharing for markers on 18p within the region reported previously. Useful knowledge : ||| allele definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| markers definition: A medical device designed to mark an anatomic location. ||| 18p definition: Proximal (short) arm of chromosome 18 ||| region definition: The continents and countries situated on those continents; the UNITED STATES and each of the constituent states arranged by region; CANADA and each of its provinces; AUSTRALIA and each of its states; the major bodies of water and major islands on both hemispheres; and selected major cities. ||| Output: [/INST] The affected-sibpair analyses indicated excess allele sharing for markers on 18p within the region reported previously.

The affected-sibpair analyses indicated excess allele sharing for markers on 18p within the region reported previously.

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 greatest sharing was at D18S37 64% in bipolar and recurrent unipolar (RUP) sib pairs (P =. Useful knowledge : ||| sharing definition: Use or hold jointly or in common. ||| bipolar definition: None ||| recurrent unipolar definition: Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. [] ||| Output:

The greatest sharing was at D18S37 64% in bipolar and recurrent unipolar (RUP) sib pairs (P =.

<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 greatest sharing was at D18S37 64% in bipolar and recurrent unipolar (RUP) sib pairs (P =. Useful knowledge : ||| sharing definition: Use or hold jointly or in common. ||| bipolar definition: None ||| recurrent unipolar definition: Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. [] ||| Output: [/INST] The greatest sharing was at D18S37 64% in bipolar and recurrent unipolar (RUP) sib pairs (P =.

The greatest sharing was at D18S37 64% in bipolar and recurrent unipolar (RUP) sib pairs (P =.

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: 0006). Useful knowledge : ||| Output:

0006).

<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: 0006). Useful knowledge : ||| Output: [/INST] 0006).

0006).

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 addition, excess sharing of the paternally, but not maternally, transmitted alleles was observed at three markers on 18q at D18S41, 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles, and 21 pairs were discordant (P = 0004). Useful knowledge : ||| excess definition: Excessive amount of sodium in the blood. (Dorland, 27th ed) ||| paternally definition: Happening or arising or located within some limits, or especially, within some surface. ||| maternally definition: Happening or arising or located within some limits, or especially, within some surface. ||| transmitted definition: The transmission of infectious disease or pathogens. When transmission is within the same species, the mode can be horizontal or vertical (INFECTIOUS DISEASE TRANSMISSION, VERTICAL). ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| observed definition: Ascertained or determined through monitoring or observation. ||| markers definition: A medical device designed to mark an anatomic location. ||| 18q definition: Distal (long) arm of chromosome 18 ||| bipolar definition: None ||| RUP definition: An Eastern Romance language spoken in Southeastern Europe. ||| concordant definition: An agreement of findings. ||| paternally transmitted definition: The transmission of infectious disease or pathogens. When transmission is within the same species, the mode can be horizontal or vertical (INFECTIOUS DISEASE TRANSMISSION, VERTICAL). ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| pairs definition: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. ||| discordant definition: A lack of agreement of findings. ||| Output:

In addition, excess sharing of the paternally, but not maternally, transmitted alleles was observed at three markers on 18q at D18S41, 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles, and 21 pairs were discordant (P = 0004).

<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 addition, excess sharing of the paternally, but not maternally, transmitted alleles was observed at three markers on 18q at D18S41, 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles, and 21 pairs were discordant (P = 0004). Useful knowledge : ||| excess definition: Excessive amount of sodium in the blood. (Dorland, 27th ed) ||| paternally definition: Happening or arising or located within some limits, or especially, within some surface. ||| maternally definition: Happening or arising or located within some limits, or especially, within some surface. ||| transmitted definition: The transmission of infectious disease or pathogens. When transmission is within the same species, the mode can be horizontal or vertical (INFECTIOUS DISEASE TRANSMISSION, VERTICAL). ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| observed definition: Ascertained or determined through monitoring or observation. ||| markers definition: A medical device designed to mark an anatomic location. ||| 18q definition: Distal (long) arm of chromosome 18 ||| bipolar definition: None ||| RUP definition: An Eastern Romance language spoken in Southeastern Europe. ||| concordant definition: An agreement of findings. ||| paternally transmitted definition: The transmission of infectious disease or pathogens. When transmission is within the same species, the mode can be horizontal or vertical (INFECTIOUS DISEASE TRANSMISSION, VERTICAL). ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| pairs definition: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. ||| discordant definition: A lack of agreement of findings. ||| Output: [/INST] In addition, excess sharing of the paternally, but not maternally, transmitted alleles was observed at three markers on 18q at D18S41, 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles, and 21 pairs were discordant (P = 0004).

In addition, excess sharing of the paternally, but not maternally, transmitted alleles was observed at three markers on 18q at D18S41, 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles, and 21 pairs were discordant (P = 0004).

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 evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees, i. e e., those in which the father or one of the fathers sibs is affected. Useful knowledge : ||| evidence definition: Knowledge on which to base belief. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| loci definition: Microsatellite repeats that have been used as markers of microsatellite instability. BAT26, a poly(A) tract in MSH2 intron 5, is one example of a BAT locus. Presence of alterations in the BAT26 locus, detected in stool samples, may be an easy and non-invasive detection method for colorectal cancer. ||| 18p definition: Proximal (short) arm of chromosome 18 ||| 18q definition: Distal (long) arm of chromosome 18 ||| paternal pedigrees definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| father definition: Male parents, human or animal. ||| affected definition: To be influenced by or changed. ||| Output:

The evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees, i. e e., those in which the father or one of the fathers sibs is affected.

<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 evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees, i. e e., those in which the father or one of the fathers sibs is affected. Useful knowledge : ||| evidence definition: Knowledge on which to base belief. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| loci definition: Microsatellite repeats that have been used as markers of microsatellite instability. BAT26, a poly(A) tract in MSH2 intron 5, is one example of a BAT locus. Presence of alterations in the BAT26 locus, detected in stool samples, may be an easy and non-invasive detection method for colorectal cancer. ||| 18p definition: Proximal (short) arm of chromosome 18 ||| 18q definition: Distal (long) arm of chromosome 18 ||| paternal pedigrees definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| father definition: Male parents, human or animal. ||| affected definition: To be influenced by or changed. ||| Output: [/INST] The evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees, i. e e., those in which the father or one of the fathers sibs is affected.

The evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees, i. e e., those in which the father or one of the fathers sibs is affected.

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 these pedigrees, the greatest allele sharing (81%; P =. Useful knowledge : ||| pedigrees definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| allele definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| sharing definition: Use or hold jointly or in common. ||| Output:

In these pedigrees, the greatest allele sharing (81%; P =.

<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 these pedigrees, the greatest allele sharing (81%; P =. Useful knowledge : ||| pedigrees definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| allele definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| sharing definition: Use or hold jointly or in common. ||| Output: [/INST] In these pedigrees, the greatest allele sharing (81%; P =.

In these pedigrees, the greatest allele sharing (81%; P =.

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: 00002) and the highest LOD score (3. Useful knowledge : ||| highest definition: Approaching or constituting a maximum; the highest point (of something). ||| LOD score definition: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." ||| Output:

00002) and the highest LOD score (3.

<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: 00002) and the highest LOD score (3. Useful knowledge : ||| highest definition: Approaching or constituting a maximum; the highest point (of something). ||| LOD score definition: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." ||| Output: [/INST] 00002) and the highest LOD score (3.

00002) and the highest LOD score (3.

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: 51; phi = 0. Useful knowledge : ||| Output:

51; phi = 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: 51; phi = 0. Useful knowledge : ||| Output: [/INST] 51; phi = 0.

51; phi = 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: 0) were observed at D18S41. Useful knowledge : ||| Output:

0) were observed at D18S41.

<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: 0) were observed at D18S41. Useful knowledge : ||| Output: [/INST] 0) were observed at D18S41.

0) were observed at D18S41.

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 results provide further support for linkage of BPAD to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder. 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. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| BPAD definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| molecular evidence definition: Relating to or produced by or consisting of molecules. ||| disorder 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. ||| Output:

Our results provide further support for linkage of @@BPAD## to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder.

<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 results provide further support for linkage of BPAD to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder. 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. ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| BPAD definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. ||| molecular evidence definition: Relating to or produced by or consisting of molecules. ||| disorder 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. ||| Output: [/INST] Our results provide further support for linkage of @@BPAD## to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder.

Our results provide further support for linkage of @@BPAD## to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder.

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 number of loci involved, and their precise location, require further study Useful knowledge : ||| loci definition: Microsatellite repeats that have been used as markers of microsatellite instability. BAT26, a poly(A) tract in MSH2 intron 5, is one example of a BAT locus. Presence of alterations in the BAT26 locus, detected in stool samples, may be an easy and non-invasive detection method for colorectal cancer. ||| location definition: A position, site, or point in space where something can be found. ||| 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. ||| Output:

The number of loci involved, and their precise location, require further study

<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 number of loci involved, and their precise location, require further study Useful knowledge : ||| loci definition: Microsatellite repeats that have been used as markers of microsatellite instability. BAT26, a poly(A) tract in MSH2 intron 5, is one example of a BAT locus. Presence of alterations in the BAT26 locus, detected in stool samples, may be an easy and non-invasive detection method for colorectal cancer. ||| location definition: A position, site, or point in space where something can be found. ||| 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. ||| Output: [/INST] The number of loci involved, and their precise location, require further study

The number of loci involved, and their precise location, require further study

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: BRCA1 mutations in a population-based sample of young women with breast cancer. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| young definition: None ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| Output:

BRCA1 mutations in a population-based sample of young women with @@breast cancer##.

<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: BRCA1 mutations in a population-based sample of young women with breast cancer. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| young definition: None ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| Output: [/INST] BRCA1 mutations in a population-based sample of young women with @@breast cancer##.

BRCA1 mutations in a population-based sample of young women with @@breast cancer##.

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. Useful knowledge : ||| BACKGROUND definition: Existing conditions, especially those that would be confused with the phenomenon to be observed or measured. ||| Output:

BACKGROUND.

<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. Useful knowledge : ||| BACKGROUND definition: Existing conditions, especially those that would be confused with the phenomenon to be observed or measured. ||| Output: [/INST] BACKGROUND.

BACKGROUND.

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: Inherited mutations in the BRCA1 gene are associated with a high risk of breast and ovarian cancer in some families. Useful knowledge : ||| Inherited definition: Transmitted through genes from parents to offspring. (genome.gov) ||| 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. ||| BRCA1 gene definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| associated with definition: Joined in some kind of relationship. ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| ovarian cancer definition: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

Inherited mutations in the BRCA1 gene are associated with a high risk of @@breast and ovarian cancer## in some families.

<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: Inherited mutations in the BRCA1 gene are associated with a high risk of breast and ovarian cancer in some families. Useful knowledge : ||| Inherited definition: Transmitted through genes from parents to offspring. (genome.gov) ||| 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. ||| BRCA1 gene definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| associated with definition: Joined in some kind of relationship. ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| ovarian cancer definition: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output: [/INST] Inherited mutations in the BRCA1 gene are associated with a high risk of @@breast and ovarian cancer## in some families.

Inherited mutations in the BRCA1 gene are associated with a high risk of @@breast and ovarian cancer## in some families.

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, little is known about the contribution of BRCA1 mutations to breast cancer in the general population. Useful knowledge : ||| contribution definition: The part played by somebody or something in bringing about an end or result. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| general population definition: None ||| Output:

However, little is known about the contribution of BRCA1 mutations to @@breast cancer## in the general population.

<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, little is known about the contribution of BRCA1 mutations to breast cancer in the general population. Useful knowledge : ||| contribution definition: The part played by somebody or something in bringing about an end or result. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| general population definition: None ||| Output: [/INST] However, little is known about the contribution of BRCA1 mutations to @@breast cancer## in the general population.

However, little is known about the contribution of BRCA1 mutations to @@breast cancer## in the general population.

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 analyzed DNA samples from women enrolled in a population-based study of early-onset breast cancer to assess the spectrum and frequency of germ-line BRCA1 mutations in young women with breast cancer. Useful knowledge : ||| analyzed definition: Examination and interpretation; the process of identifying an issue to be understood and addressed, modelling the issue, investigating the model results, interpreting the results, and possibly making a recommendation. The concept also refers to the examination and study of a whole in terms of the parts composing it. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| 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. ||| early-onset definition: A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| assess definition: The final result of a determination of the value, significance, or extent of. ||| spectrum definition: A charted band of wavelengths of electromagnetic vibrations. ||| frequency definition: None ||| germ-line definition: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| young definition: None ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| Output:

We analyzed DNA samples from women enrolled in a population-based study of early-onset @@breast cancer## to assess the spectrum and frequency of germ-line BRCA1 mutations in young women with @@breast cancer##.

<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 analyzed DNA samples from women enrolled in a population-based study of early-onset breast cancer to assess the spectrum and frequency of germ-line BRCA1 mutations in young women with breast cancer. Useful knowledge : ||| analyzed definition: Examination and interpretation; the process of identifying an issue to be understood and addressed, modelling the issue, investigating the model results, interpreting the results, and possibly making a recommendation. The concept also refers to the examination and study of a whole in terms of the parts composing it. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| 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. ||| early-onset definition: A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| assess definition: The final result of a determination of the value, significance, or extent of. ||| spectrum definition: A charted band of wavelengths of electromagnetic vibrations. ||| frequency definition: None ||| germ-line definition: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| young definition: None ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| Output: [/INST] We analyzed DNA samples from women enrolled in a population-based study of early-onset @@breast cancer## to assess the spectrum and frequency of germ-line BRCA1 mutations in young women with @@breast cancer##.

We analyzed DNA samples from women enrolled in a population-based study of early-onset @@breast cancer## to assess the spectrum and frequency of germ-line BRCA1 mutations in young women with @@breast cancer##.

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. Useful knowledge : ||| Output:

METHODS.

<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. Useful knowledge : ||| Output: [/INST] METHODS.

METHODS.

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 80 women in whom breast cancer was diagnosed before the age of 35, and who were not selected on the basis of family history. Useful knowledge : ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| diagnosed 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. ||| age definition: How long something has existed; elapsed time since birth. ||| family history definition: A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. ||| Output:

We studied 80 women in whom @@breast cancer## was diagnosed before the age of 35, and who were not selected on the basis of family history.

<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 80 women in whom breast cancer was diagnosed before the age of 35, and who were not selected on the basis of family history. Useful knowledge : ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| diagnosed 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. ||| age definition: How long something has existed; elapsed time since birth. ||| family history definition: A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. ||| Output: [/INST] We studied 80 women in whom @@breast cancer## was diagnosed before the age of 35, and who were not selected on the basis of family history.

We studied 80 women in whom @@breast cancer## was diagnosed before the age of 35, and who were not selected on the basis of family history.

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: Genomic DNA was studied for BRCA1 mutations by analysis involving single-strand conformation polymorphisms and with allele-specific assays. Useful knowledge : ||| Genomic DNA definition: The DNA that is part of the normal chromosomal complement of an organism. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| analysis definition: None ||| single-strand conformation definition: A modified polymerase chain reaction (PCR) technique that uses differences in molecular weights and three-dimensional structures to identify mutations in DNA configurations. ||| 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. ||| Output:

Genomic DNA was studied for BRCA1 mutations by analysis involving single-strand conformation polymorphisms and with allele-specific assays.

<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: Genomic DNA was studied for BRCA1 mutations by analysis involving single-strand conformation polymorphisms and with allele-specific assays. Useful knowledge : ||| Genomic DNA definition: The DNA that is part of the normal chromosomal complement of an organism. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| analysis definition: None ||| single-strand conformation definition: A modified polymerase chain reaction (PCR) technique that uses differences in molecular weights and three-dimensional structures to identify mutations in DNA configurations. ||| 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. ||| Output: [/INST] Genomic DNA was studied for BRCA1 mutations by analysis involving single-strand conformation polymorphisms and with allele-specific assays.

Genomic DNA was studied for BRCA1 mutations by analysis involving single-strand conformation polymorphisms and with allele-specific assays.

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: Alterations were defined by DNA sequencing. Useful knowledge : ||| Alterations definition: The act or process of modifying something. ||| DNA sequencing definition: The sequence of nucleotide residues along a DNA chain. ||| Output:

Alterations were defined by DNA sequencing.

<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: Alterations were defined by DNA sequencing. Useful knowledge : ||| Alterations definition: The act or process of modifying something. ||| DNA sequencing definition: The sequence of nucleotide residues along a DNA chain. ||| Output: [/INST] Alterations were defined by DNA sequencing.

Alterations were defined by DNA sequencing.

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. Useful knowledge : ||| Output:

RESULTS.

<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. Useful knowledge : ||| Output: [/INST] RESULTS.

RESULTS.

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: Germ-line BRCA1 mutations were identified in 6 of the 80 women. Useful knowledge : ||| Germ-line definition: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS. ||| 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. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| Output:

Germ-line BRCA1 mutations were identified in 6 of the 80 women.

<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: Germ-line BRCA1 mutations were identified in 6 of the 80 women. Useful knowledge : ||| Germ-line definition: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS. ||| 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. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| Output: [/INST] Germ-line BRCA1 mutations were identified in 6 of the 80 women.

Germ-line BRCA1 mutations were identified in 6 of the 80 women.

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 additional rare sequence variants of unknown functional importance were also identified. Useful knowledge : ||| sequence variants definition: Genotypic differences observed among individuals in a population. ||| functional definition: None ||| importance definition: A scale for the subjective scoring of importance that ranges from 0: Not at all important to 10: Extremely important. ||| identified definition: The procedure of having an identity established. ||| Output:

Four additional rare sequence variants of unknown functional importance were also 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: Four additional rare sequence variants of unknown functional importance were also identified. Useful knowledge : ||| sequence variants definition: Genotypic differences observed among individuals in a population. ||| functional definition: None ||| importance definition: A scale for the subjective scoring of importance that ranges from 0: Not at all important to 10: Extremely important. ||| identified definition: The procedure of having an identity established. ||| Output: [/INST] Four additional rare sequence variants of unknown functional importance were also identified.

Four additional rare sequence variants of unknown functional importance were also 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: Two of the mutations and three of the rare sequence variants were found among the 39 women who reported no family history of breast or ovarian cancer. 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. ||| rare definition: Not occurring regularly or at short intervals. ||| sequence definition: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. ||| variants definition: An alteration or difference from a norm or standard. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| family history of definition: A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| ovarian cancer definition: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. ||| Output:

Two of the mutations and three of the rare sequence variants were found among the 39 women who reported no family history of @@breast or ovarian cancer##.

<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 of the mutations and three of the rare sequence variants were found among the 39 women who reported no family history of breast or ovarian cancer. 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. ||| rare definition: Not occurring regularly or at short intervals. ||| sequence definition: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. ||| variants definition: An alteration or difference from a norm or standard. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| family history of definition: A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| ovarian cancer definition: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. ||| Output: [/INST] Two of the mutations and three of the rare sequence variants were found among the 39 women who reported no family history of @@breast or ovarian cancer##.

Two of the mutations and three of the rare sequence variants were found among the 39 women who reported no family history of @@breast or ovarian cancer##.

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: None of the mutations and only one of the rare variants was identified in a reference population of 73 unrelated subjects. 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. ||| rare definition: Not occurring regularly or at short intervals. ||| variants definition: An alteration or difference from a norm or standard. ||| identified definition: The procedure of having an identity established. ||| reference population definition: A note acknowledging a source of information or quoting a passage. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| Output:

None of the mutations and only one of the rare variants was identified in a reference population of 73 unrelated subjects.

<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: None of the mutations and only one of the rare variants was identified in a reference population of 73 unrelated subjects. 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. ||| rare definition: Not occurring regularly or at short intervals. ||| variants definition: An alteration or difference from a norm or standard. ||| identified definition: The procedure of having an identity established. ||| reference population definition: A note acknowledging a source of information or quoting a passage. ||| subjects definition: Persons who are enrolled in research studies or who are otherwise the subjects of research. ||| Output: [/INST] None of the mutations and only one of the rare variants was identified in a reference population of 73 unrelated subjects.

None of the mutations and only one of the rare variants was identified in a reference population of 73 unrelated subjects.

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. Useful knowledge : ||| CONCLUSIONS definition: A position or opinion or judgment reached after consideration. ||| Output:

CONCLUSIONS.

<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. Useful knowledge : ||| CONCLUSIONS definition: A position or opinion or judgment reached after consideration. ||| Output: [/INST] CONCLUSIONS.

CONCLUSIONS.

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: Alterations in BRCA1 were identified in approximately 10 percent of this cohort of young women with breast cancer. Useful knowledge : ||| Alterations definition: The act or process of modifying something. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| identified definition: The procedure of having an identity established. ||| cohort definition: A group of individuals, identified by a common characteristic. ||| young definition: None ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| Output:

Alterations in BRCA1 were identified in approximately 10 percent of this cohort of young women with @@breast cancer##.

<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: Alterations in BRCA1 were identified in approximately 10 percent of this cohort of young women with breast cancer. Useful knowledge : ||| Alterations definition: The act or process of modifying something. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| identified definition: The procedure of having an identity established. ||| cohort definition: A group of individuals, identified by a common characteristic. ||| young definition: None ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| breast cancer definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| Output: [/INST] Alterations in BRCA1 were identified in approximately 10 percent of this cohort of young women with @@breast cancer##.

Alterations in BRCA1 were identified in approximately 10 percent of this cohort of young women with @@breast cancer##.

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 risk of harboring a mutation was not limited to women with family histories of breast or ovarian cancer. Useful knowledge : ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| 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. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| family histories definition: A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| ovarian cancer definition: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. ||| Output:

The risk of harboring a mutation was not limited to women with family histories of @@breast or ovarian cancer##.

<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 risk of harboring a mutation was not limited to women with family histories of breast or ovarian cancer. Useful knowledge : ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| 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. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| family histories definition: A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| ovarian cancer definition: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. ||| Output: [/INST] The risk of harboring a mutation was not limited to women with family histories of @@breast or ovarian cancer##.

The risk of harboring a mutation was not limited to women with family histories of @@breast or ovarian cancer##.

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 represent a minimal estimate of the frequency of BRCA1 mutations in this population. 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. ||| minimal definition: <b>Description:</b>Provides more than identified, but not as much as universal. There are not expected to be many of these. ||| estimate definition: To calculate approximately. ||| frequency definition: None ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| population definition: The total number of individuals inhabiting a particular region or area. ||| Output:

These results represent a minimal estimate of the frequency of BRCA1 mutations in this population.

<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 represent a minimal estimate of the frequency of BRCA1 mutations in this population. 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. ||| minimal definition: <b>Description:</b>Provides more than identified, but not as much as universal. There are not expected to be many of these. ||| estimate definition: To calculate approximately. ||| frequency definition: None ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| population definition: The total number of individuals inhabiting a particular region or area. ||| Output: [/INST] These results represent a minimal estimate of the frequency of BRCA1 mutations in this population.

These results represent a minimal estimate of the frequency of BRCA1 mutations in this population.

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: Comprehensive methods of identifying BRCA1 mutations and understanding their importance will be needed before testing of women in the general population can be undertaken.. Useful knowledge : ||| Comprehensive definition: Broad in scope; including all or everything. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| testing definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| general population definition: None ||| Output:

Comprehensive methods of identifying BRCA1 mutations and understanding their importance will be needed before testing of women in the general population can be undertaken..

<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: Comprehensive methods of identifying BRCA1 mutations and understanding their importance will be needed before testing of women in the general population can be undertaken.. Useful knowledge : ||| Comprehensive definition: Broad in scope; including all or everything. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| 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. ||| testing definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| women definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| general population definition: None ||| Output: [/INST] Comprehensive methods of identifying BRCA1 mutations and understanding their importance will be needed before testing of women in the general population can be undertaken..

Comprehensive methods of identifying BRCA1 mutations and understanding their importance will be needed before testing of women in the general population can be undertaken..

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: Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Useful knowledge : ||| Retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| X-linked retinoschisis protein definition: A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. ||| secreted definition: The controlled release of a substance by a cell or a tissue. [GOC:ai] ||| photoreceptor protein definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| expressed definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| Output:

Retinoschisin, the @@X-linked retinoschisis## protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

<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: Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Useful knowledge : ||| Retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| X-linked retinoschisis protein definition: A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. ||| secreted definition: The controlled release of a substance by a cell or a tissue. [GOC:ai] ||| photoreceptor protein definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| expressed definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| Output: [/INST] Retinoschisin, the @@X-linked retinoschisis## protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

Retinoschisin, the @@X-linked retinoschisis## protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

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: X-linked retinoschisis is characterized by microcystic-like changes of the macular region and schisis within the inner retinal layers, leading to visual deterioration in males. Useful knowledge : ||| X-linked retinoschisis definition: A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. ||| macular region definition: An opaque spot on the cornea (a part of the eye) ||| schisis definition: Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. ||| inner retinal layers definition: The tissue that constitutes the retina. It is composed of the following layers: ganglion cell layer, inner limiting membrane, inner nuclear layer, inner plexiform layer, layer of the ophthalmic nerve fibers, layer of the rods and cones, neural retina, outer limiting membrane, outer nuclear layer, outer plexiform layer, and retinal pigment epithelium. ||| visual deterioration definition: A symptom or state of reduced quality or strength. ||| 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. ||| Output:

@@X-linked retinoschisis## is characterized by microcystic-like changes of the macular region and schisis within the inner retinal layers, leading to @@visual deterioration## in males.

<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: X-linked retinoschisis is characterized by microcystic-like changes of the macular region and schisis within the inner retinal layers, leading to visual deterioration in males. Useful knowledge : ||| X-linked retinoschisis definition: A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. ||| macular region definition: An opaque spot on the cornea (a part of the eye) ||| schisis definition: Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. ||| inner retinal layers definition: The tissue that constitutes the retina. It is composed of the following layers: ganglion cell layer, inner limiting membrane, inner nuclear layer, inner plexiform layer, layer of the ophthalmic nerve fibers, layer of the rods and cones, neural retina, outer limiting membrane, outer nuclear layer, outer plexiform layer, and retinal pigment epithelium. ||| visual deterioration definition: A symptom or state of reduced quality or strength. ||| 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. ||| Output: [/INST] @@X-linked retinoschisis## is characterized by microcystic-like changes of the macular region and schisis within the inner retinal layers, leading to @@visual deterioration## in males.

@@X-linked retinoschisis## is characterized by microcystic-like changes of the macular region and schisis within the inner retinal layers, leading to @@visual deterioration## in males.

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: Many missense and protein-truncating mutations of the causative gene RS1 have now been identified and are thought to be inactivating. Useful knowledge : ||| missense definition: None ||| 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> ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| identified definition: The procedure of having an identity established. ||| inactivating definition: To cause the elimination of an activity. ||| Output:

Many missense and protein-truncating mutations of the causative gene RS1 have now been identified and are thought to be inactivating.

<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: Many missense and protein-truncating mutations of the causative gene RS1 have now been identified and are thought to be inactivating. Useful knowledge : ||| missense definition: None ||| 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> ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| identified definition: The procedure of having an identity established. ||| inactivating definition: To cause the elimination of an activity. ||| Output: [/INST] Many missense and protein-truncating mutations of the causative gene RS1 have now been identified and are thought to be inactivating.

Many missense and protein-truncating mutations of the causative gene RS1 have now been identified and are thought to be inactivating.

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: RS1 encodes a 224 amino acid protein, retinoschisin, which contains a discoidin domain but is of unknown function. Useful knowledge : ||| amino acid protein definition: None ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| discoidin domain definition: A protein domain originally identified in DISCOIDINS. It occurs in a variety of unrelated proteins in multicellular organisms, where it recognizes different ligands with distinct biological functions. Structurally, it consists of two antiparallel beta sheets that form a "jellyroll" configuration stabilized by two intramolecular disulfide bonds. Sequence differences within this module determine ligand specificity; in DISCOIDIN DOMAIN RECEPTORS, it binds to FIBRILLAR COLLAGENS and NON-FIBRILLAR COLLAGENS. ||| function definition: Used with organs, tissues, and cells of unicellular and multicellular organisms for normal function. It is used also with biochemical substances, endogenously produced, for their physiologic role. ||| Output:

RS1 encodes a 224 amino acid protein, retinoschisin, which contains a discoidin domain but is of unknown function.

<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: RS1 encodes a 224 amino acid protein, retinoschisin, which contains a discoidin domain but is of unknown function. Useful knowledge : ||| amino acid protein definition: None ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| discoidin domain definition: A protein domain originally identified in DISCOIDINS. It occurs in a variety of unrelated proteins in multicellular organisms, where it recognizes different ligands with distinct biological functions. Structurally, it consists of two antiparallel beta sheets that form a "jellyroll" configuration stabilized by two intramolecular disulfide bonds. Sequence differences within this module determine ligand specificity; in DISCOIDIN DOMAIN RECEPTORS, it binds to FIBRILLAR COLLAGENS and NON-FIBRILLAR COLLAGENS. ||| function definition: Used with organs, tissues, and cells of unicellular and multicellular organisms for normal function. It is used also with biochemical substances, endogenously produced, for their physiologic role. ||| Output: [/INST] RS1 encodes a 224 amino acid protein, retinoschisin, which contains a discoidin domain but is of unknown function.

RS1 encodes a 224 amino acid protein, retinoschisin, which contains a discoidin domain but is of unknown function.

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 generated a polyclonal antibody against a peptide from a unique region within retinoschisin, which detects a protein of approximately 28 kDa in retinal samples reduced with dithiothreitol, but multimers sized > 40 kDa under non-reducing conditions. Useful knowledge : ||| polyclonal antibody definition: A heterogeneous antibody derived from a host organism, typically produced by immunization of a suitable mammal with an antigen which induces B-lymphocytes to produce IgG immunoglobulins specific for the antigen. The resulting collection of antibodies have specificity for different epitopes of the antigen. ||| peptide definition: Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are considered to be larger versions of peptides that can form into complex structures such as ENZYMES and RECEPTORS. ||| unique definition: The single one of its kind. ||| region definition: The continents and countries situated on those continents; the UNITED STATES and each of the constituent states arranged by region; CANADA and each of its provinces; AUSTRALIA and each of its states; the major bodies of water and major islands on both hemispheres; and selected major cities. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| retinal definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| samples definition: A part of a thing, or of several things, taken to demonstrate or to determine the character of the whole, e.g. a substance, or portion of material obtained for use in testing, examination, or study; particularly, a preparation of tissue or bodily fluid taken for examination or diagnosis. ||| reduced definition: Made less in size or amount or degree. ||| dithiothreitol definition: A reagent commonly used in biochemical studies as a protective agent to prevent the oxidation of SH (thiol) groups and for reducing disulphides to dithiols. ||| multimers definition: This gene is involved in the storage of coagulation factor V/Va in platelets. ||| Output:

We have generated a polyclonal antibody against a peptide from a unique region within retinoschisin, which detects a protein of approximately 28 kDa in retinal samples reduced with dithiothreitol, but multimers sized > 40 kDa under non-reducing conditions.

<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 generated a polyclonal antibody against a peptide from a unique region within retinoschisin, which detects a protein of approximately 28 kDa in retinal samples reduced with dithiothreitol, but multimers sized > 40 kDa under non-reducing conditions. Useful knowledge : ||| polyclonal antibody definition: A heterogeneous antibody derived from a host organism, typically produced by immunization of a suitable mammal with an antigen which induces B-lymphocytes to produce IgG immunoglobulins specific for the antigen. The resulting collection of antibodies have specificity for different epitopes of the antigen. ||| peptide definition: Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are considered to be larger versions of peptides that can form into complex structures such as ENZYMES and RECEPTORS. ||| unique definition: The single one of its kind. ||| region definition: The continents and countries situated on those continents; the UNITED STATES and each of the constituent states arranged by region; CANADA and each of its provinces; AUSTRALIA and each of its states; the major bodies of water and major islands on both hemispheres; and selected major cities. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| retinal definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| samples definition: A part of a thing, or of several things, taken to demonstrate or to determine the character of the whole, e.g. a substance, or portion of material obtained for use in testing, examination, or study; particularly, a preparation of tissue or bodily fluid taken for examination or diagnosis. ||| reduced definition: Made less in size or amount or degree. ||| dithiothreitol definition: A reagent commonly used in biochemical studies as a protective agent to prevent the oxidation of SH (thiol) groups and for reducing disulphides to dithiols. ||| multimers definition: This gene is involved in the storage of coagulation factor V/Va in platelets. ||| Output: [/INST] We have generated a polyclonal antibody against a peptide from a unique region within retinoschisin, which detects a protein of approximately 28 kDa in retinal samples reduced with dithiothreitol, but multimers sized > 40 kDa under non-reducing conditions.

We have generated a polyclonal antibody against a peptide from a unique region within retinoschisin, which detects a protein of approximately 28 kDa in retinal samples reduced with dithiothreitol, but multimers sized > 40 kDa under non-reducing conditions.

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 screen of human tissues with this antibody reveals retinoschisin to be retina specific and the antibody detects a protein of similar size in bovine and murine retinae. Useful knowledge : ||| human definition: Members of the species Homo sapiens. ||| 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. ||| antibody definition: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS). ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| specific definition: Clearly and explicitly stated. ||| antibody definition: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS). ||| 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. ||| size definition: The physical magnitude of something. ||| bovine definition: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor. ||| murine definition: Any of numerous species of small rodents belonging to the genus Mus and various related genera of the family Muridae. ||| retinae definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| Output:

A screen of human tissues with this antibody reveals retinoschisin to be retina specific and the antibody detects a protein of similar size in bovine and murine retinae.

<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 screen of human tissues with this antibody reveals retinoschisin to be retina specific and the antibody detects a protein of similar size in bovine and murine retinae. Useful knowledge : ||| human definition: Members of the species Homo sapiens. ||| 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. ||| antibody definition: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS). ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| specific definition: Clearly and explicitly stated. ||| antibody definition: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS). ||| 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. ||| size definition: The physical magnitude of something. ||| bovine definition: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor. ||| murine definition: Any of numerous species of small rodents belonging to the genus Mus and various related genera of the family Muridae. ||| retinae definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| Output: [/INST] A screen of human tissues with this antibody reveals retinoschisin to be retina specific and the antibody detects a protein of similar size in bovine and murine retinae.

A screen of human tissues with this antibody reveals retinoschisin to be retina specific and the antibody detects a protein of similar size in bovine and murine retinae.

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 investigated the expression pattern in the retina of both RS1 mRNA (using in situ hybridization with riboprobes) and retinoschisin (using immunohistochemistry). Useful knowledge : ||| investigated definition: None ||| expression pattern definition: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| in situ hybridization with definition: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| immunohistochemistry definition: Histochemical localization of immunoreactive substances using labeled antibodies as reagents. ||| Output:

We investigated the expression pattern in the retina of both RS1 mRNA (using in situ hybridization with riboprobes) and retinoschisin (using immunohistochemistry).

<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 investigated the expression pattern in the retina of both RS1 mRNA (using in situ hybridization with riboprobes) and retinoschisin (using immunohistochemistry). Useful knowledge : ||| investigated definition: None ||| expression pattern definition: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| in situ hybridization with definition: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| immunohistochemistry definition: Histochemical localization of immunoreactive substances using labeled antibodies as reagents. ||| Output: [/INST] We investigated the expression pattern in the retina of both RS1 mRNA (using in situ hybridization with riboprobes) and retinoschisin (using immunohistochemistry).

We investigated the expression pattern in the retina of both RS1 mRNA (using in situ hybridization with riboprobes) and retinoschisin (using immunohistochemistry).

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 antisense riboprobe detected RS1 mRNA only in the photoreceptor layer but the protein product of the gene was present both in the photoreceptors and within the inner portions of the retina. Useful knowledge : ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| photoreceptor layer definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| protein product definition: The end result of a manufacturing process; anything that is produced. ||| 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. ||| photoreceptors definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| Output:

The antisense riboprobe detected RS1 mRNA only in the photoreceptor layer but the protein product of the gene was present both in the photoreceptors and within the inner portions of the retina.

<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 antisense riboprobe detected RS1 mRNA only in the photoreceptor layer but the protein product of the gene was present both in the photoreceptors and within the inner portions of the retina. Useful knowledge : ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| photoreceptor layer definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| protein product definition: The end result of a manufacturing process; anything that is produced. ||| 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. ||| photoreceptors definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| Output: [/INST] The antisense riboprobe detected RS1 mRNA only in the photoreceptor layer but the protein product of the gene was present both in the photoreceptors and within the inner portions of the retina.

The antisense riboprobe detected RS1 mRNA only in the photoreceptor layer but the protein product of the gene was present both in the photoreceptors and within the inner portions of the retina.

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: Furthermore, differentiated retinoblastoma cells (Weri-Rb1 cells) were found to express RS1 mRNA and to release retinoschisin. Useful knowledge : ||| retinoblastoma cells definition: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104) ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| release definition: The administrative process of discharging the patient, alive or dead, from hospitals or other health facilities. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| Output:

Furthermore, differentiated @@retinoblastoma## cells (Weri-Rb1 cells) were found to express RS1 mRNA and to release retinoschisin.

<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: Furthermore, differentiated retinoblastoma cells (Weri-Rb1 cells) were found to express RS1 mRNA and to release retinoschisin. Useful knowledge : ||| retinoblastoma cells definition: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104) ||| RS1 definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| 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. ||| release definition: The administrative process of discharging the patient, alive or dead, from hospitals or other health facilities. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| Output: [/INST] Furthermore, differentiated @@retinoblastoma## cells (Weri-Rb1 cells) were found to express RS1 mRNA and to release retinoschisin.

Furthermore, differentiated @@retinoblastoma## cells (Weri-Rb1 cells) were found to express RS1 mRNA and to release retinoschisin.

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 suggest that retinoschisin is released by photo-receptors and has functions within the inner retinal layers. 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. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| photo-receptors definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| functions definition: The normal action performed by a structure or device. ||| inner retinal layers definition: The tissue that constitutes the retina. It is composed of the following layers: ganglion cell layer, inner limiting membrane, inner nuclear layer, inner plexiform layer, layer of the ophthalmic nerve fibers, layer of the rods and cones, neural retina, outer limiting membrane, outer nuclear layer, outer plexiform layer, and retinal pigment epithelium. ||| Output:

These results suggest that retinoschisin is released by photo-receptors and has functions within the inner retinal layers.

<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 suggest that retinoschisin is released by photo-receptors and has functions within the inner retinal layers. 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. ||| retinoschisin definition: This gene is involved in development, aging, and cell-cell adhesion in the retina. ||| photo-receptors definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| functions definition: The normal action performed by a structure or device. ||| inner retinal layers definition: The tissue that constitutes the retina. It is composed of the following layers: ganglion cell layer, inner limiting membrane, inner nuclear layer, inner plexiform layer, layer of the ophthalmic nerve fibers, layer of the rods and cones, neural retina, outer limiting membrane, outer nuclear layer, outer plexiform layer, and retinal pigment epithelium. ||| Output: [/INST] These results suggest that retinoschisin is released by photo-receptors and has functions within the inner retinal layers.

These results suggest that retinoschisin is released by photo-receptors and has functions within the inner retinal layers.

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: Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy.. Useful knowledge : ||| X-linked retinoschisis definition: A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. ||| abnormalities definition: Malformations of organs or body parts during development in utero. ||| secreted definition: The controlled release of a substance by a cell or a tissue. [GOC:ai] ||| photoreceptor protein definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| secreted definition: The controlled release of a substance by a cell or a tissue. [GOC:ai] ||| associated with definition: Joined in some kind of relationship. ||| retinal dystrophy definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues. ||| Output:

Thus, @@X-linked retinoschisis## is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a @@retinal dystrophy##..

<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: Thus, X-linked retinoschisis is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a retinal dystrophy.. Useful knowledge : ||| X-linked retinoschisis definition: A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. ||| abnormalities definition: Malformations of organs or body parts during development in utero. ||| secreted definition: The controlled release of a substance by a cell or a tissue. [GOC:ai] ||| photoreceptor protein definition: Specialized cells that detect and transduce light. They are classified into two types based on their light reception structure, the ciliary photoreceptors and the rhabdomeric photoreceptors with MICROVILLI. Ciliary photoreceptor cells use OPSINS that activate a PHOSPHODIESTERASE phosphodiesterase cascade. Rhabdomeric photoreceptor cells use opsins that activate a PHOSPHOLIPASE C cascade. ||| secreted definition: The controlled release of a substance by a cell or a tissue. [GOC:ai] ||| associated with definition: Joined in some kind of relationship. ||| retinal dystrophy definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues. ||| Output: [/INST] Thus, @@X-linked retinoschisis## is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a @@retinal dystrophy##..

Thus, @@X-linked retinoschisis## is caused by abnormalities in a putative secreted photoreceptor protein and is the first example of a secreted photo-receptor protein associated with a @@retinal dystrophy##..

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: Aberrant splicing of the CHM gene is a significant cause of choroideremia. Useful knowledge : ||| Aberrant definition: None ||| splicing definition: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. ||| 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. ||| choroideremia definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| Output:

Aberrant splicing of the @@CHM## gene is a significant cause of @@choroideremia##.

<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: Aberrant splicing of the CHM gene is a significant cause of choroideremia. Useful knowledge : ||| Aberrant definition: None ||| splicing definition: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. ||| 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. ||| choroideremia definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| Output: [/INST] Aberrant splicing of the @@CHM## gene is a significant cause of @@choroideremia##.

Aberrant splicing of the @@CHM## gene is a significant cause of @@choroideremia##.

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: Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina. Useful knowledge : ||| Choroideremia definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| X-linked progressive degeneration definition: Inherited progressive cone degeneration. [] ||| choroid definition: The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| Output:

@@Choroideremia## (@@CHM##) is an @@X-linked progressive degeneration of the choroid and retina##.

<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: Choroideremia (CHM) is an X-linked progressive degeneration of the choroid and retina. Useful knowledge : ||| Choroideremia definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| X-linked progressive degeneration definition: Inherited progressive cone degeneration. [] ||| choroid definition: The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA. ||| retina definition: The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent. ||| Output: [/INST] @@Choroideremia## (@@CHM##) is an @@X-linked progressive degeneration of the choroid and retina##.

@@Choroideremia## (@@CHM##) is an @@X-linked progressive degeneration of the choroid and retina##.

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: 12% of unrelated male patients carry deletions of the partially cloned CHM gene. Useful knowledge : ||| unrelated definition: Not connected or associated e.g. by kinship. ||| 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. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 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. ||| cloned definition: A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed) ||| Output:

12% of unrelated male patients carry deletions of the partially cloned @@CHM## 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: 12% of unrelated male patients carry deletions of the partially cloned CHM gene. Useful knowledge : ||| unrelated definition: Not connected or associated e.g. by kinship. ||| 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. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 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. ||| cloned definition: A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed) ||| Output: [/INST] 12% of unrelated male patients carry deletions of the partially cloned @@CHM## gene.

12% of unrelated male patients carry deletions of the partially cloned @@CHM## 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: In Finland, there are more than 120 living CHM patients belonging to eight apparently unrelated pedigrees. Useful knowledge : ||| Finland definition: A country in northern Europe, bordering the Baltic Sea, Gulf of Bothnia, and Gulf of Finland, between Sweden and Russia. The capital is Helsinki. ||| living definition: None ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| pedigrees definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| Output:

In Finland, there are more than 120 living @@CHM## patients belonging to eight apparently unrelated pedigrees.

<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 Finland, there are more than 120 living CHM patients belonging to eight apparently unrelated pedigrees. Useful knowledge : ||| Finland definition: A country in northern Europe, bordering the Baltic Sea, Gulf of Bothnia, and Gulf of Finland, between Sweden and Russia. The capital is Helsinki. ||| living definition: None ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| pedigrees definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| Output: [/INST] In Finland, there are more than 120 living @@CHM## patients belonging to eight apparently unrelated pedigrees.

In Finland, there are more than 120 living @@CHM## patients belonging to eight apparently unrelated pedigrees.

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 deletions involving the CHM gene have been detected in three families. Useful knowledge : ||| Molecular deletions definition: Relating to or produced by or consisting of molecules. ||| 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> ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

Molecular deletions involving the @@CHM## gene have been detected in three families.

<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 deletions involving the CHM gene have been detected in three families. Useful knowledge : ||| Molecular deletions definition: Relating to or produced by or consisting of molecules. ||| 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> ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output: [/INST] Molecular deletions involving the @@CHM## gene have been detected in three families.

Molecular deletions involving the @@CHM## gene have been detected in three families.

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 screened the remaining five families for point mutations. Useful knowledge : ||| screened definition: To screen in advance of a time or event, often before a more detailed selection process. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| point mutations definition: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. ||| Output:

We have screened the remaining five families for point 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: We have screened the remaining five families for point mutations. Useful knowledge : ||| screened definition: To screen in advance of a time or event, often before a more detailed selection process. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| point mutations definition: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. ||| Output: [/INST] We have screened the remaining five families for point mutations.

We have screened the remaining five families for point 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: In one large family a single nucleotide (T) insertion into the donor splice site of exon C leads to two aberrantly spliced mRNAs both producing a premature stop codon. Useful knowledge : ||| donor splice site definition: None ||| exon C definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| spliced definition: A device designed to join pieces of a material into a continuous length. ||| mRNAs 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. ||| premature stop codon definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| Output:

In one large family a single nucleotide (T) insertion into the donor splice site of exon C leads to two aberrantly spliced mRNAs both producing a premature stop codon.

<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 one large family a single nucleotide (T) insertion into the donor splice site of exon C leads to two aberrantly spliced mRNAs both producing a premature stop codon. Useful knowledge : ||| donor splice site definition: None ||| exon C definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| spliced definition: A device designed to join pieces of a material into a continuous length. ||| mRNAs 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. ||| premature stop codon definition: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon. ||| Output: [/INST] In one large family a single nucleotide (T) insertion into the donor splice site of exon C leads to two aberrantly spliced mRNAs both producing a premature stop codon.

In one large family a single nucleotide (T) insertion into the donor splice site of exon C leads to two aberrantly spliced mRNAs both producing a premature stop codon.

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 mutation can be assayed easily by amplification and digestion with Msel. Useful knowledge : ||| 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. ||| 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. ||| digestion definition: The process of breakdown of food for metabolism and use by the body. ||| Output:

The mutation can be assayed easily by amplification and digestion with Msel.

<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 mutation can be assayed easily by amplification and digestion with Msel. Useful knowledge : ||| 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. ||| 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. ||| digestion definition: The process of breakdown of food for metabolism and use by the body. ||| Output: [/INST] The mutation can be assayed easily by amplification and digestion with Msel.

The mutation can be assayed easily by amplification and digestion with Msel.

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 provide additional evidence for the pathogenetic role of CHM mutations and provide a diagnostic tool for one fifth of the worlds known CHM patients.. Useful knowledge : ||| findings definition: None ||| evidence definition: Knowledge on which to base belief. ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| 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. ||| diagnostic tool 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. ||| worlds definition: People in general considered as a whole. ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

Our findings provide additional evidence for the pathogenetic role of @@CHM## mutations and provide a diagnostic tool for one fifth of the worlds known @@CHM## 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: Our findings provide additional evidence for the pathogenetic role of CHM mutations and provide a diagnostic tool for one fifth of the worlds known CHM patients.. Useful knowledge : ||| findings definition: None ||| evidence definition: Knowledge on which to base belief. ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| 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. ||| diagnostic tool 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. ||| worlds definition: People in general considered as a whole. ||| CHM definition: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output: [/INST] Our findings provide additional evidence for the pathogenetic role of @@CHM## mutations and provide a diagnostic tool for one fifth of the worlds known @@CHM## patients..

Our findings provide additional evidence for the pathogenetic role of @@CHM## mutations and provide a diagnostic tool for one fifth of the worlds known @@CHM## 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: X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Useful knowledge : ||| 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). ||| 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. ||| 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). ||| members definition: One of the persons who compose a social group, especially an individual who has joined and participates in a group organization. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

@@X-linked adrenoleukodystrophy## (@@ALD##): a novel mutation of the @@ALD## gene in 6 members of a family presenting with 5 different phenotypes.

<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: X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Useful knowledge : ||| 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). ||| 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. ||| 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). ||| members definition: One of the persons who compose a social group, especially an individual who has joined and participates in a group organization. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output: [/INST] @@X-linked adrenoleukodystrophy## (@@ALD##): a novel mutation of the @@ALD## gene in 6 members of a family presenting with 5 different phenotypes.

@@X-linked adrenoleukodystrophy## (@@ALD##): a novel mutation of the @@ALD## gene in 6 members of a family presenting with 5 different phenotypes.

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: Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned. Useful knowledge : ||| Fragments definition: A physical quality in which the entity or structure is broken into pieces. ||| 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). ||| 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. ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| adolescent definition: A person 13 to 18 years of age. ||| 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). ||| amplified definition: An indication that amplification of one or more genes of interest was detected in a sample. ||| polymerase chain reaction definition: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. ||| subcloned definition: A DNA clone generated by transferring a cloned DNA fragment from one plasmid to another. ||| Output:

Fragments of the @@adrenoleukodystrophy## (@@ALD##) cDNA from a patient with @@adolescent ALD## were amplified by polymerase chain reaction and subcloned.

<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: Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned. Useful knowledge : ||| Fragments definition: A physical quality in which the entity or structure is broken into pieces. ||| 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). ||| 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. ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| adolescent definition: A person 13 to 18 years of age. ||| 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). ||| amplified definition: An indication that amplification of one or more genes of interest was detected in a sample. ||| polymerase chain reaction definition: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. ||| subcloned definition: A DNA clone generated by transferring a cloned DNA fragment from one plasmid to another. ||| Output: [/INST] Fragments of the @@adrenoleukodystrophy## (@@ALD##) cDNA from a patient with @@adolescent ALD## were amplified by polymerase chain reaction and subcloned.

Fragments of the @@adrenoleukodystrophy## (@@ALD##) cDNA from a patient with @@adolescent ALD## were amplified by polymerase chain reaction and subcloned.

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: Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine. Useful knowledge : ||| Bidirectional sequencing definition: A technique used to identify the sequence of individual nucleobases in a single strand of DNA fragment template, which can be a plasmid insert, genomic DNA or a PCR product. In addition, direct sequencing of genomic DNA or PCR products does not require sub-cloning of the gene of interest into a vector. ||| cytosine definition: A pyrimidine base that is a fundamental unit of nucleic acids. ||| guanine transversion definition: A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine. ||| exon definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| 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> ||| arginine definition: An essential amino acid that is physiologically active in the L-form. ||| Output:

Bidirectional sequencing of the entire coding @@ALD## gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine.

<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: Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine. Useful knowledge : ||| Bidirectional sequencing definition: A technique used to identify the sequence of individual nucleobases in a single strand of DNA fragment template, which can be a plasmid insert, genomic DNA or a PCR product. In addition, direct sequencing of genomic DNA or PCR products does not require sub-cloning of the gene of interest into a vector. ||| cytosine definition: A pyrimidine base that is a fundamental unit of nucleic acids. ||| guanine transversion definition: A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine. ||| exon definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| 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> ||| arginine definition: An essential amino acid that is physiologically active in the L-form. ||| Output: [/INST] Bidirectional sequencing of the entire coding @@ALD## gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine.

Bidirectional sequencing of the entire coding @@ALD## gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine.

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: Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in twenty controls. Useful knowledge : ||| siblings definition: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed) ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 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. ||| 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 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. ||| symptomatic definition: Exhibiting the symptoms of a particular disease. ||| mother definition: Female parents, human or animal. ||| long chain fatty acids definition: A class of dietary fatty acids that have an alkyl chain length from 13 up to 21 carbon atoms. ||| 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. ||| persons 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. ||| unrelated definition: Not connected or associated e.g. by kinship. ||| 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). ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| controls definition: The containment, regulation, or restraint of costs. Costs are said to be contained when the value of resources committed to an activity is not considered excessive. This determination is frequently subjective and dependent upon the specific geographic area of the activity being measured. (From Dictionary of Health Services Management, 2d ed) ||| Output:

Five of nine siblings of the patient, comprising two @@cerebral ALD##, one @@adrenomyeloneuropathy##, one @@Addison only## as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated @@ALD## patients, and in twenty controls.

<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: Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in twenty controls. Useful knowledge : ||| siblings definition: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed) ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 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. ||| 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 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. ||| symptomatic definition: Exhibiting the symptoms of a particular disease. ||| mother definition: Female parents, human or animal. ||| long chain fatty acids definition: A class of dietary fatty acids that have an alkyl chain length from 13 up to 21 carbon atoms. ||| 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. ||| persons 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. ||| unrelated definition: Not connected or associated e.g. by kinship. ||| 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). ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| controls definition: The containment, regulation, or restraint of costs. Costs are said to be contained when the value of resources committed to an activity is not considered excessive. This determination is frequently subjective and dependent upon the specific geographic area of the activity being measured. (From Dictionary of Health Services Management, 2d ed) ||| Output: [/INST] Five of nine siblings of the patient, comprising two @@cerebral ALD##, one @@adrenomyeloneuropathy##, one @@Addison only## as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated @@ALD## patients, and in twenty controls.

Five of nine siblings of the patient, comprising two @@cerebral ALD##, one @@adrenomyeloneuropathy##, one @@Addison only## as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated @@ALD## patients, and in twenty controls.

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 propose that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes, however, must have originated by means of additional pathogenetic factors.. Useful knowledge : ||| missense mutation 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) ||| 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. ||| metabolic defect definition: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the &lt;i&gt; HIBCH&lt;/i&gt; gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| pathogenetic factors definition: Those components of an organism that determine its capacity to cause disease but are not required for its viability per se. Two classes have been characterized: TOXINS, BIOLOGICAL and surface adhesion molecules that effect the ability of the microorganism to invade and colonize a host. (From Davis et al., Microbiology, 4th ed. p486) ||| Output:

We propose that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes, however, must have originated by means of additional pathogenetic factors..

<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 propose that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes, however, must have originated by means of additional pathogenetic factors.. Useful knowledge : ||| missense mutation 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) ||| 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. ||| metabolic defect definition: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the &lt;i&gt; HIBCH&lt;/i&gt; gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| pathogenetic factors definition: Those components of an organism that determine its capacity to cause disease but are not required for its viability per se. Two classes have been characterized: TOXINS, BIOLOGICAL and surface adhesion molecules that effect the ability of the microorganism to invade and colonize a host. (From Davis et al., Microbiology, 4th ed. p486) ||| Output: [/INST] We propose that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes, however, must have originated by means of additional pathogenetic factors..

We propose that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes, however, must have originated by means of additional pathogenetic factors..

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: Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. Useful knowledge : ||| Statistical analysis definition: None ||| stage mutation definition: A change in the nucleotide sequence in a STAT family gene. ||| von Hippel-Lindau disease definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. ||| sporadic definition: None ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| Output:

Statistical analysis of the two stage mutation model in @@von Hippel-Lindau disease##, and in @@sporadic cerebellar haemangioblastoma## and @@renal cell carcinoma##.

<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: Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. Useful knowledge : ||| Statistical analysis definition: None ||| stage mutation definition: A change in the nucleotide sequence in a STAT family gene. ||| von Hippel-Lindau disease definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. ||| sporadic definition: None ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| Output: [/INST] Statistical analysis of the two stage mutation model in @@von Hippel-Lindau disease##, and in @@sporadic cerebellar haemangioblastoma## and @@renal cell carcinoma##.

Statistical analysis of the two stage mutation model in @@von Hippel-Lindau disease##, and in @@sporadic cerebellar haemangioblastoma## and @@renal cell carcinoma##.

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 age incidence curves for unilateral and bilateral retinoblastoma led Knudson to propose that hereditary tumours may arise by a single event and sporadic tumours by a two stage mutation process. Useful knowledge : ||| Analysis definition: None ||| age definition: How long something has existed; elapsed time since birth. ||| unilateral definition: Involving only one part or side. ||| bilateral retinoblastoma definition: Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. ||| hereditary tumours definition: Transmitted through genes from parents to offspring. (genome.gov) ||| event definition: Something that happens at a given place and time. ||| sporadic tumours definition: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. ||| stage definition: A distinguishable part, a stage in a series of events or in a process of development, e.g. any of the varying aspects or stages in course of a disease; a fraction of a cycle. ||| Output:

Analysis of the age incidence curves for @@unilateral and bilateral retinoblastoma## led Knudson to propose that @@hereditary tumours## may arise by a single event and @@sporadic tumours## by a two stage mutation process.

<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 age incidence curves for unilateral and bilateral retinoblastoma led Knudson to propose that hereditary tumours may arise by a single event and sporadic tumours by a two stage mutation process. Useful knowledge : ||| Analysis definition: None ||| age definition: How long something has existed; elapsed time since birth. ||| unilateral definition: Involving only one part or side. ||| bilateral retinoblastoma definition: Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. ||| hereditary tumours definition: Transmitted through genes from parents to offspring. (genome.gov) ||| event definition: Something that happens at a given place and time. ||| sporadic tumours definition: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. ||| stage definition: A distinguishable part, a stage in a series of events or in a process of development, e.g. any of the varying aspects or stages in course of a disease; a fraction of a cycle. ||| Output: [/INST] Analysis of the age incidence curves for @@unilateral and bilateral retinoblastoma## led Knudson to propose that @@hereditary tumours## may arise by a single event and @@sporadic tumours## by a two stage mutation process.

Analysis of the age incidence curves for @@unilateral and bilateral retinoblastoma## led Knudson to propose that @@hereditary tumours## may arise by a single event and @@sporadic tumours## by a two stage mutation process.

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: It has been suggested recently that sporadic renal cell carcinoma may arise from a two stage mutation process. Useful knowledge : ||| sporadic renal cell carcinoma definition: The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. ||| stage definition: A distinguishable part, a stage in a series of events or in a process of development, e.g. any of the varying aspects or stages in course of a disease; a fraction of a cycle. ||| Output:

It has been suggested recently that @@sporadic renal cell carcinoma## may arise from a two stage mutation process.

<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: It has been suggested recently that sporadic renal cell carcinoma may arise from a two stage mutation process. Useful knowledge : ||| sporadic renal cell carcinoma definition: The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. ||| stage definition: A distinguishable part, a stage in a series of events or in a process of development, e.g. any of the varying aspects or stages in course of a disease; a fraction of a cycle. ||| Output: [/INST] It has been suggested recently that @@sporadic renal cell carcinoma## may arise from a two stage mutation process.

It has been suggested recently that @@sporadic renal cell carcinoma## may arise from a two stage mutation process.

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 analysed the age incidence curves for symptomatic renal cell carcinoma (n = 26) and cerebellar haemangioblastoma (n = 68) in 109 patients with von Hippel-Lindau (VHL) disease, and compared them to 104 patients with sporadic renal cell carcinoma and 43 patients with sporadic cerebellar haemangioblastoma. Useful knowledge : ||| analysed definition: Any device designed to perform an analysis. ||| age definition: How long something has existed; elapsed time since birth. ||| symptomatic definition: Exhibiting the symptoms of a particular disease. ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| von Hippel-Lindau definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. ||| compared definition: The examination of two or more people or things in order to detect similarities and differences. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| sporadic renal cell carcinoma definition: The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| sporadic definition: None ||| Output:

We analysed the age incidence curves for symptomatic @@renal cell carcinoma## (n = 26) and @@cerebellar haemangioblastoma## (n = 68) in 109 patients with @@von Hippel-Lindau (VHL) disease##, and compared them to 104 patients with @@sporadic renal cell carcinoma## and 43 patients with @@sporadic cerebellar haemangioblastoma##.

<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 analysed the age incidence curves for symptomatic renal cell carcinoma (n = 26) and cerebellar haemangioblastoma (n = 68) in 109 patients with von Hippel-Lindau (VHL) disease, and compared them to 104 patients with sporadic renal cell carcinoma and 43 patients with sporadic cerebellar haemangioblastoma. Useful knowledge : ||| analysed definition: Any device designed to perform an analysis. ||| age definition: How long something has existed; elapsed time since birth. ||| symptomatic definition: Exhibiting the symptoms of a particular disease. ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| von Hippel-Lindau definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. ||| compared definition: The examination of two or more people or things in order to detect similarities and differences. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| sporadic renal cell carcinoma definition: The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| sporadic definition: None ||| Output: [/INST] We analysed the age incidence curves for symptomatic @@renal cell carcinoma## (n = 26) and @@cerebellar haemangioblastoma## (n = 68) in 109 patients with @@von Hippel-Lindau (VHL) disease##, and compared them to 104 patients with @@sporadic renal cell carcinoma## and 43 patients with @@sporadic cerebellar haemangioblastoma##.

We analysed the age incidence curves for symptomatic @@renal cell carcinoma## (n = 26) and @@cerebellar haemangioblastoma## (n = 68) in 109 patients with @@von Hippel-Lindau (VHL) disease##, and compared them to 104 patients with @@sporadic renal cell carcinoma## and 43 patients with @@sporadic cerebellar haemangioblastoma##.

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 age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process. Useful knowledge : ||| age definition: How long something has existed; elapsed time since birth. ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| age definition: How long something has existed; elapsed time since birth. ||| sporadic renal cell carcinoma definition: The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| stage definition: A distinguishable part, a stage in a series of events or in a process of development, e.g. any of the varying aspects or stages in course of a disease; a fraction of a cycle. ||| Output:

The age incidence curves for @@renal cell carcinoma## and @@cerebellar haemangioblastoma## in @@VHL disease## were compatible with a single mutation model, whereas the age incidence curves for @@sporadic renal cell carcinoma## and @@cerebellar haemangioblastoma## suggested a two stage mutation process.

<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 age incidence curves for renal cell carcinoma and cerebellar haemangioblastoma in VHL disease were compatible with a single mutation model, whereas the age incidence curves for sporadic renal cell carcinoma and cerebellar haemangioblastoma suggested a two stage mutation process. Useful knowledge : ||| age definition: How long something has existed; elapsed time since birth. ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| age definition: How long something has existed; elapsed time since birth. ||| sporadic renal cell carcinoma definition: The most common type of renal cell carcinoma, characterized by a loss of genetic material of the short arm of chromosome 3. The most common symptom at the time of diagnosis is hematuria. The tumor has a golden-yellow color because of the abundance of intracytoplasmic lipid. This is a clinically aggressive type of renal cell carcinoma. The tumor usually metastasizes to unusual sites and late metastasis is common. ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| stage definition: A distinguishable part, a stage in a series of events or in a process of development, e.g. any of the varying aspects or stages in course of a disease; a fraction of a cycle. ||| Output: [/INST] The age incidence curves for @@renal cell carcinoma## and @@cerebellar haemangioblastoma## in @@VHL disease## were compatible with a single mutation model, whereas the age incidence curves for @@sporadic renal cell carcinoma## and @@cerebellar haemangioblastoma## suggested a two stage mutation process.

The age incidence curves for @@renal cell carcinoma## and @@cerebellar haemangioblastoma## in @@VHL disease## were compatible with a single mutation model, whereas the age incidence curves for @@sporadic renal cell carcinoma## and @@cerebellar haemangioblastoma## suggested a two stage mutation process.

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 compatible with the VHL gene functioning as a recessive tumour suppressor gene. Useful knowledge : ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| VHL gene definition: This gene is involved in transcriptional repression and protein degradation. ||| recessive tumour suppressor gene definition: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible. ||| Output:

These data are compatible with the @@VHL## gene functioning as a recessive @@tumour## suppressor 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: These data are compatible with the VHL gene functioning as a recessive tumour suppressor gene. Useful knowledge : ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| VHL gene definition: This gene is involved in transcriptional repression and protein degradation. ||| recessive tumour suppressor gene definition: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible. ||| Output: [/INST] These data are compatible with the @@VHL## gene functioning as a recessive @@tumour## suppressor gene.

These data are compatible with the @@VHL## gene functioning as a recessive @@tumour## suppressor 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: Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus.. Useful knowledge : ||| Sporadic definition: None ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| somatic definition: Nucleated cell which has one or more diploid sets (46 pairs) of chromosomes. ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| VHL definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. ||| locus definition: The position of a gene or a chromosomal marker on a chromosome; also, a stretch of DNA at a particular place on a particular chromosome. The use of locus is sometimes restricted to mean regions of DNA that are expressed. ||| Output:

@@Sporadic cerebellar haemangioblastoma## and some @@renal cell carcinoma## may arise from somatic mutations inactivating both alleles at the @@VHL## locus..

<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: Sporadic cerebellar haemangioblastoma and some renal cell carcinoma may arise from somatic mutations inactivating both alleles at the VHL locus.. Useful knowledge : ||| Sporadic definition: None ||| cerebellar haemangioblastoma definition: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). ||| renal cell carcinoma definition: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. ||| somatic definition: Nucleated cell which has one or more diploid sets (46 pairs) of chromosomes. ||| alleles definition: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. ||| VHL definition: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. ||| locus definition: The position of a gene or a chromosomal marker on a chromosome; also, a stretch of DNA at a particular place on a particular chromosome. The use of locus is sometimes restricted to mean regions of DNA that are expressed. ||| Output: [/INST] @@Sporadic cerebellar haemangioblastoma## and some @@renal cell carcinoma## may arise from somatic mutations inactivating both alleles at the @@VHL## locus..

@@Sporadic cerebellar haemangioblastoma## and some @@renal cell carcinoma## may arise from somatic mutations inactivating both alleles at the @@VHL## locus..

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: Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Useful knowledge : ||| Characterization definition: The act of describing distinctive characteristics or essential features. ||| germline mosaicism definition: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Lowe syndrome definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| 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. ||| 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. ||| OCRL1 gene definition: None ||| Output:

Characterization of a germline mosaicism in families with @@Lowe syndrome##, and identification of seven novel mutations in the OCRL1 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: Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. Useful knowledge : ||| Characterization definition: The act of describing distinctive characteristics or essential features. ||| germline mosaicism definition: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Lowe syndrome definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| 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. ||| 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. ||| OCRL1 gene definition: None ||| Output: [/INST] Characterization of a germline mosaicism in families with @@Lowe syndrome##, and identification of seven novel mutations in the OCRL1 gene.

Characterization of a germline mosaicism in families with @@Lowe syndrome##, and identification of seven novel mutations in the OCRL1 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: The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. Useful knowledge : ||| oculocerebrorenal syndrome definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| OCRL definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| X-linked disorder definition: A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [HPO:curators] ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| abnormalities definition: Malformations of organs or body parts during development in utero. ||| eyes definition: The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light. ||| nervous system definition: The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed) ||| kidneys definition: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. ||| Output:

The @@oculocerebrorenal syndrome of Lowe## (@@OCRL##) is an @@X-linked disorder## characterized by major @@abnormalities of eyes, nervous system, and kidneys##.

<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 oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. Useful knowledge : ||| oculocerebrorenal syndrome definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| OCRL definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| X-linked disorder definition: A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [HPO:curators] ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| abnormalities definition: Malformations of organs or body parts during development in utero. ||| eyes definition: The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light. ||| nervous system definition: The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed) ||| kidneys definition: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. ||| Output: [/INST] The @@oculocerebrorenal syndrome of Lowe## (@@OCRL##) is an @@X-linked disorder## characterized by major @@abnormalities of eyes, nervous system, and kidneys##.

The @@oculocerebrorenal syndrome of Lowe## (@@OCRL##) is an @@X-linked disorder## characterized by major @@abnormalities of eyes, nervous system, and kidneys##.

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: Mutations in the OCRL1 gene have been associated with the disease. 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. ||| OCRL1 gene definition: None ||| associated with definition: Joined in some kind of relationship. ||| 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. ||| Output:

Mutations in the OCRL1 gene have been associated with the 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: Mutations in the OCRL1 gene have been associated with the disease. 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. ||| OCRL1 gene definition: None ||| associated with definition: Joined in some kind of relationship. ||| 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. ||| Output: [/INST] Mutations in the OCRL1 gene have been associated with the disease.

Mutations in the OCRL1 gene have been associated with the 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: OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns [4, 5] P2) 5-phosphatase. Useful knowledge : ||| OCRL1 definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| encodes definition: To assign a code to represent data. ||| phosphatidylinositol 4 definition: Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to the hexahydroxy alcohol, myo-inositol. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid, myo-inositol, and 2 moles of fatty acids. ||| PtdIns definition: Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to the hexahydroxy alcohol, myo-inositol. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid, myo-inositol, and 2 moles of fatty acids. ||| Output:

OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns [4, 5] P2) 5-phosphatase.

<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: OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns [4, 5] P2) 5-phosphatase. Useful knowledge : ||| OCRL1 definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| encodes definition: To assign a code to represent data. ||| phosphatidylinositol 4 definition: Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to the hexahydroxy alcohol, myo-inositol. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid, myo-inositol, and 2 moles of fatty acids. ||| PtdIns definition: Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to the hexahydroxy alcohol, myo-inositol. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid, myo-inositol, and 2 moles of fatty acids. ||| Output: [/INST] OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns [4, 5] P2) 5-phosphatase.

OCRL1 encodes a phosphatidylinositol 4, 5-biphosphate (PtdIns [4, 5] P2) 5-phosphatase.

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 examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion. Useful knowledge : ||| OCRL1 gene definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| OCRL definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| 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 have examined the OCRL1 gene in eight unrelated patients with @@OCRL## and have found seven new mutations and one recurrent in-frame deletion.

<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 examined the OCRL1 gene in eight unrelated patients with OCRL and have found seven new mutations and one recurrent in-frame deletion. Useful knowledge : ||| OCRL1 gene definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| OCRL definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| 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 have examined the OCRL1 gene in eight unrelated patients with @@OCRL## and have found seven new mutations and one recurrent in-frame deletion.

We have examined the OCRL1 gene in eight unrelated patients with @@OCRL## and have found seven new mutations and one recurrent in-frame deletion.

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: Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein. 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. ||| nonsense mutations definition: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. ||| frameshift mutations definition: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. ||| premature termination definition: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. ||| 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. ||| Output:

Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the 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: Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein. 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. ||| nonsense mutations definition: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. ||| frameshift mutations definition: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. ||| premature termination definition: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. ||| 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. ||| Output: [/INST] Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the protein.

Among the new mutations, two nonsense mutations (R317X and E558X) and three other frameshift mutations caused premature termination of the 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 missense mutation, R483G, was located in the highly conserved PtdIns (4, 5) P2 5-phosphatase domain. Useful knowledge : ||| missense mutation 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) ||| highly conserved definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| PtdIns definition: Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to the hexahydroxy alcohol, myo-inositol. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid, myo-inositol, and 2 moles of fatty acids. ||| P2 5-phosphatase definition: Phosphoinositide phosphatases that catalyze the removal of the 5' phosphate from INOSITOL 1,4,5-TRISPHOSPHATE or myo-inositol 1,3,4,5-tetrakisphosphate, resulting in inositol 1,4-bisphosphate and phosphate. They have important functions in the metabolism of INOSITOL PHOSPHATES and inositol 1,4,5-trisphosphate signaling pathways such as CALCIUM SIGNALING. ||| Output:

A missense mutation, R483G, was located in the highly conserved PtdIns (4, 5) P2 5-phosphatase domain.

<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 missense mutation, R483G, was located in the highly conserved PtdIns (4, 5) P2 5-phosphatase domain. Useful knowledge : ||| missense mutation 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) ||| highly conserved definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| PtdIns definition: Derivatives of phosphatidic acids in which the phosphoric acid is bound in ester linkage to the hexahydroxy alcohol, myo-inositol. Complete hydrolysis yields 1 mole of glycerol, phosphoric acid, myo-inositol, and 2 moles of fatty acids. ||| P2 5-phosphatase definition: Phosphoinositide phosphatases that catalyze the removal of the 5' phosphate from INOSITOL 1,4,5-TRISPHOSPHATE or myo-inositol 1,3,4,5-tetrakisphosphate, resulting in inositol 1,4-bisphosphate and phosphate. They have important functions in the metabolism of INOSITOL PHOSPHATES and inositol 1,4,5-trisphosphate signaling pathways such as CALCIUM SIGNALING. ||| Output: [/INST] A missense mutation, R483G, was located in the highly conserved PtdIns (4, 5) P2 5-phosphatase domain.

A missense mutation, R483G, was located in the highly conserved PtdIns (4, 5) P2 5-phosphatase domain.

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: Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids. Useful knowledge : ||| frameshift definition: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. ||| 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. ||| modifies definition: <p>Definition: Used to link a newer version or 'snapshot' of a business object (source) to an older version or 'snapshot' of the same business object (target).</p><p>*Usage:*The identifier of the Act should be the same for both source and target. If the identifiers are distinct, RPLC should be used instead.</p><p>Name from source to target = "modifiesPrior"</p><p>Name from target to source = "modifiesByNew"</p> ||| C-terminal part definition: The amino acid residing in the last position of a protein or peptide. ||| OCRL1 definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| extension definition: To increase in length or duration. ||| 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:

Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six 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: Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids. Useful knowledge : ||| frameshift definition: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously. ||| 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. ||| modifies definition: <p>Definition: Used to link a newer version or 'snapshot' of a business object (source) to an older version or 'snapshot' of the same business object (target).</p><p>*Usage:*The identifier of the Act should be the same for both source and target. If the identifiers are distinct, RPLC should be used instead.</p><p>Name from source to target = "modifiesPrior"</p><p>Name from target to source = "modifiesByNew"</p> ||| C-terminal part definition: The amino acid residing in the last position of a protein or peptide. ||| OCRL1 definition: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) ||| extension definition: To increase in length or duration. ||| 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] Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids.

Finally, one frameshift mutation, 2799delC, modifies the C-terminal part of OCRL1, with an extension of six amino acids.