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ncbi_disease_knowledge_2_shots_256

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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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16. Useful knowledge : ||| Genetic mapping definition: Any method used for determining the location of and relative distances between genes on a chromosome. ||| copper definition: A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. ||| toxicosis definition: None ||| 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. ||| Bedlington terriers definition: A terrier that resembles a lamb, with a pear-shaped head, arched back, and a thick, curly double coat that can be blue, liver, or sandy color. The average height range is 15-17 inches and the average weight range is 18-23 pounds. ||| dog chromosome 10 definition: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ||| human definition: Members of the species Homo sapiens. ||| Output:

Genetic mapping of the @@copper toxicosis## locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Abnormal hepatic copper accumulation is recognized as an inherited disorder in man, mouse, rat and dog. Useful knowledge : ||| Abnormal definition: Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. ||| hepatic copper definition: Pertaining to, affecting, or associated with the liver. ||| accumulation definition: A state characterized by the gradual increase in entities or substances. ||| inherited definition: Transmitted through genes from parents to offspring. (genome.gov) ||| 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. ||| man definition: Human males as cultural, psychological, sociological, political, and economic entities. ||| mouse definition: The common mouse species, Mus musculus. ||| rat definition: The common rat, Rattus norvegicus, often used as an experimental organism. ||| dog definition: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065) ||| Output:

Abnormal @@hepatic copper accumulation## is recognized as an @@inherited disorder## in man, mouse, rat and dog.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The major cause of hepatic copper accumulation in man is a dysfunctional ATP7B gene, causing Wilson disease (WD). Useful knowledge : ||| hepatic copper definition: Pertaining to, affecting, or associated with the liver. ||| accumulation definition: A state characterized by the gradual increase in entities or substances. ||| man definition: Human males as cultural, psychological, sociological, political, and economic entities. ||| dysfunctional definition: Used with organs and diseases for disordered function in disease states. ||| ATP7B gene definition: This gene plays a role in ATPase-dependent copper export. ||| Wilson disease definition: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. ||| WD definition: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. ||| Output:

The major cause of @@hepatic copper accumulation## in man is a dysfunctional ATP7B gene, causing @@Wilson disease## (@@WD##).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Mutations in the ATP7B genes have also been demonstrated in mouse and rat. 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. ||| ATP7B genes definition: This gene plays a role in ATPase-dependent copper export. ||| mouse definition: The common mouse species, Mus musculus. ||| rat definition: The common rat, Rattus norvegicus, often used as an experimental organism. ||| Output:

Mutations in the ATP7B genes have also been demonstrated in mouse and rat.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The ATP7B gene has been excluded in the much rarer human copper overload disease non-Indian childhood cirrhosis, indicating genetic heterogeneity. Useful knowledge : ||| ATP7B gene definition: This gene plays a role in ATPase-dependent copper export. ||| human definition: Members of the species Homo sapiens. ||| childhood cirrhosis definition: Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. ||| genetic heterogeneity definition: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) ||| Output:

The ATP7B gene has been excluded in the much rarer human @@copper overload## disease @@non-Indian childhood cirrhosis##, indicating genetic heterogeneity.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: By investigating the common autosomal recessive copper toxicosis (CT) in Bedlington terriers, we have identified a new locus involved in progressive liver disease. Useful knowledge : ||| investigating definition: None ||| autosomal definition: Any chromosome other than a sex chromosome. [GOC:mah] ||| CT definition: State bounded on the north by Massachusetts, on the east by Rhode Island, on the south by Long Island Sound, and on the west by New York. ||| Bedlington terriers definition: A terrier that resembles a lamb, with a pear-shaped head, arched back, and a thick, curly double coat that can be blue, liver, or sandy color. The average height range is 15-17 inches and the average weight range is 18-23 pounds. ||| identified definition: The procedure of having an identity established. ||| 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. ||| progressive definition: Advancing in extent or severity. ||| liver disease definition: Pathological processes of the LIVER. ||| Output:

By investigating the common autosomal recessive @@copper toxicosis## (@@CT##) in Bedlington terriers, we have identified a new locus involved in progressive @@liver 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We examined whether the WD gene ATP7B was also causative for CT by investigating the chromosomal co-localization of ATP7B and C04107, using fluorescence in situ hybridization (FISH). Useful knowledge : ||| WD gene definition: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. ||| ATP7B definition: This gene plays a role in ATPase-dependent copper export. ||| causative 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> ||| CT definition: State bounded on the north by Massachusetts, on the east by Rhode Island, on the south by Long Island Sound, and on the west by New York. ||| investigating definition: None ||| chromosomal co-localization definition: Any process in which a chromosome is transported to, or maintained in, a specific location. [GOC:ai] ||| ATP7B definition: This gene plays a role in ATPase-dependent copper export. ||| fluorescence in situ hybridization ( definition: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei. ||| FISH definition: A group of cold-blooded, aquatic vertebrates having gills, fins, a cartilaginous or bony endoskeleton, and elongated bodies covered with scales. ||| Output:

We examined whether the @@WD## gene ATP7B was also causative for @@CT## by investigating the chromosomal co-localization of ATP7B and C04107, using fluorescence in situ hybridization (FISH).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: C04107 is an anonymous microsatellite marker closely linked to CT. Useful knowledge : ||| microsatellite marker definition: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs). ||| CT definition: State bounded on the north by Massachusetts, on the east by Rhode Island, on the south by Long Island Sound, and on the west by New York. ||| Output:

C04107 is an anonymous microsatellite marker closely linked to @@CT##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: However, BAC clones containing ATP7B and C04107 mapped to the canine chromosome regions CFA22q11 and CFA10q26, respectively, demonstrating that WD cannot be homologous to CT. Useful knowledge : ||| BAC clones 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) ||| ATP7B definition: This gene plays a role in ATPase-dependent copper export. ||| mapped definition: The process of connecting an item or symbol to a code or concept. ||| canine definition: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065) ||| chromosome regions definition: Any subdivision of a chromosome along its length. [GOC:dos] ||| WD definition: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. ||| CT definition: State bounded on the north by Massachusetts, on the east by Rhode Island, on the south by Long Island Sound, and on the west by New York. ||| Output:

However, BAC clones containing ATP7B and C04107 mapped to the canine chromosome regions CFA22q11 and CFA10q26, respectively, demonstrating that @@WD## cannot be homologous to @@CT##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The copper transport genes CTR1 and CTR2 were also excluded as candidate genes for CT since they both mapped to canine chromosome region CFA11q22. Useful knowledge : ||| copper transport genes definition: The directed movement of copper (Cu) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. [GOC:ai] ||| CTR1 definition: None ||| CTR2 definition: None ||| candidate genes definition: A gene proposed to have a primary role in a disease, based upon its known function in other organisms or model systems or based upon its physical proximity to markers linked to a genetic disease. ||| CT definition: State bounded on the north by Massachusetts, on the east by Rhode Island, on the south by Long Island Sound, and on the west by New York. ||| mapped definition: The process of connecting an item or symbol to a code or concept. ||| canine definition: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065) ||| chromosome region definition: Any subdivision of a chromosome along its length. [GOC:dos] ||| Output:

The copper transport genes CTR1 and CTR2 were also excluded as candidate genes for @@CT## since they both mapped to canine chromosome region CFA11q22.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 2-22. Useful knowledge : ||| Output:

2-22.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 5. Useful knowledge : ||| Output:

5.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A transcribed sequence identified from the C04107-containing BAC was found to be homologous to a gene expressed from human chromosome 2p13-p16, a region devoid of any positional candidate genes. Useful knowledge : ||| identified definition: The procedure of having an identity established. ||| homologous definition: A gene from one species which corresponds to a gene in another species and that is related via a common ancestral species. These genes retain a similar sequence and function. ||| gene expressed definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| 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. ||| positional candidate genes definition: A gene proposed to have a primary role in a disease, based upon its known function in other organisms or model systems or based upon its physical proximity to markers linked to a genetic disease. ||| Output:

A transcribed sequence identified from the C04107-containing BAC was found to be homologous to a gene expressed from human chromosome 2p13-p16, a region devoid of any positional candidate 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. Useful knowledge : ||| Molecular analysis definition: A laboratory procedure that involves the study of tissues, cells, and fluids using DNA/RNA analysis techniques for the identification of characteristics and abnormalities at the molecular level. ||| APC gene definition: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| FAP definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| evidence definition: Knowledge on which to base belief. ||| APC definition: A heterogeneous group of immunocompetent cells that mediate the cellular immune response by processing and presenting antigens to the T-cells. Traditional antigen-presenting cells include MACROPHAGES; DENDRITIC CELLS; LANGERHANS CELLS; and B-LYMPHOCYTES. FOLLICULAR DENDRITIC CELLS are not traditional antigen-presenting cells, but because they hold antigen on their cell surface in the form of IMMUNE COMPLEXES for B-cell recognition they are considered so by some authors. ||| amino acid definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| colorectal cancer definition: A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. ||| predisposition definition: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. ||| Output:

Molecular analysis of the @@APC## gene in 205 families: extended genotype-phenotype correlations in @@FAP## and evidence for the role of @@APC## amino acid changes in @@colorectal cancer## predisposition.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: BACKGROUND/AIMS The development of colorectal cancer and a variable range of extracolonic manifestations in familial adenomatous polyposis (FAP) is the result of the dominant inheritance of adenomatous polyposis coli (APC) gene mutations. Useful knowledge : ||| development definition: None ||| colorectal cancer definition: A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. ||| variable range definition: Marked by diversity or difference; liable to or capable of change. ||| manifestations definition: None ||| familial adenomatous polyposis definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| FAP definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| dominant definition: Exercising influence or control. ||| inheritance definition: None ||| adenomatous polyposis coli (APC) definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| gene mutations definition: The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA. ||| Output:

BACKGROUND/AIMS The development of @@colorectal cancer## and a variable range of extracolonic manifestations in @@familial adenomatous polyposis## (@@FAP##) is the result of the dominant inheritance of @@adenomatous polyposis coli## (@@APC##) gene 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In this study, direct mutation analysis of the APC gene was performed to determine genotype-phenotype correlations for nine extracolonic manifestations and to investigate the incidence of APC mutations in non-FAP colorectal cancer. Useful knowledge : ||| study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| mutation analysis definition: The identification of genetic variation in a biological sample. ||| APC gene definition: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| manifestations definition: None ||| investigate definition: None ||| incidence definition: The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases in the population at a given time. ||| APC definition: A heterogeneous group of immunocompetent cells that mediate the cellular immune response by processing and presenting antigens to the T-cells. Traditional antigen-presenting cells include MACROPHAGES; DENDRITIC CELLS; LANGERHANS CELLS; and B-LYMPHOCYTES. FOLLICULAR DENDRITIC CELLS are not traditional antigen-presenting cells, but because they hold antigen on their cell surface in the form of IMMUNE COMPLEXES for B-cell recognition they are considered so by some authors. ||| 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:

In this study, direct mutation analysis of the @@APC## gene was performed to determine genotype-phenotype correlations for nine extracolonic manifestations and to investigate the incidence of @@APC## mutations in non-FAP @@colorectal 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: METHODS The APC gene was analysed in 190 unrelated FAP and 15 non-FAP colorectal cancer patients using denaturing gradient gel electrophoresis, the protein truncation test, and direct sequencing. Useful knowledge : ||| APC gene definition: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers. ||| analysed definition: Any device designed to perform an analysis. ||| FAP definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| colorectal cancer definition: A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| denaturing gradient gel electrophoresis definition: Electrophoresis in which various denaturant gradients are used to induce nucleic acids to melt at various stages resulting in separation of molecules based on small sequence differences including SNPs. The denaturants used include heat, formamide, and urea. ||| protein truncation test definition: Termination of the translation process at a stop codon. ||| direct 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. ||| Output:

METHODS The @@APC## gene was analysed in 190 unrelated @@FAP## and 15 non-FAP @@colorectal cancer## patients using denaturing gradient gel electrophoresis, the protein truncation test, and direct 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: RESULTS Chain terminating signals were only identified in patients belonging to the FAP group (105 patients). 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. ||| identified definition: The procedure of having an identity established. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| FAP definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| group definition: Any number of entities (members) considered as a unit. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

RESULTS Chain terminating signals were only identified in patients belonging to the @@FAP## group (105 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Amino acid changes were identified in four patients, three of whom belonged to the non-FAP group of colorectal cancer patients. Useful knowledge : ||| Amino acid changes 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. ||| identified definition: The procedure of having an identity established. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| colorectal cancer definition: A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

Amino acid changes were identified in four patients, three of whom belonged to the non-FAP group of @@colorectal cancer## 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Genotype-phenotype correlations identified significant differences in the nature of certain extracolonic manifestations in FAP patients belonging to three mutation subgroups. Useful knowledge : ||| Genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| nature definition: The system of all phenomena in space and time; the totality of physical reality. It is both a scientific and philosophic concept appearing in all historic eras. (Webster 2d; Dr. James H. Cassedy, NLM History of Medicine Division) ||| manifestations definition: None ||| FAP definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 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. ||| subgroups definition: None ||| Output:

Genotype-phenotype correlations identified significant differences in the nature of certain extracolonic manifestations in @@FAP## patients belonging to three mutation subgroups.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: CONCLUSIONS Extended genotype-phenotype correlations made in this study may have the potential to determine the most appropriate surveillance and prophylactic treatment regimens for those patients with mutations associated with life threatening conditions. Useful knowledge : ||| CONCLUSIONS definition: A position or opinion or judgment reached after consideration. ||| Extended definition: To increase in length or duration. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| 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. ||| potential definition: The likelihood or possibility that a specific state or condition will exist or that an action will occur. ||| surveillance definition: None ||| prophylactic treatment regimens definition: Therapeutic, nutritional, environmental, social and/or behavioral interventions at the societal, community, organizational or individual levels to reduce, modify or stop the course of a disease. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| associated with definition: Joined in some kind of relationship. ||| life threatening definition: None ||| conditions definition: A state of being, such as a state of health. ||| Output:

CONCLUSIONS Extended genotype-phenotype correlations made in this study may have the potential to determine the most appropriate surveillance and prophylactic treatment regimens for those patients with mutations associated with life threatening 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: This study also provided evidence for the pathological nature of amino acid changes in APC associated with both FAP and non-FAP colorectal cancer patients.. Useful knowledge : ||| study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| evidence definition: Knowledge on which to base belief. ||| pathological definition: A specialty concerned with the nature and cause of disease as expressed by changes in cellular or tissue structure and function caused by the disease process. ||| amino acid changes 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. ||| APC definition: A heterogeneous group of immunocompetent cells that mediate the cellular immune response by processing and presenting antigens to the T-cells. Traditional antigen-presenting cells include MACROPHAGES; DENDRITIC CELLS; LANGERHANS CELLS; and B-LYMPHOCYTES. FOLLICULAR DENDRITIC CELLS are not traditional antigen-presenting cells, but because they hold antigen on their cell surface in the form of IMMUNE COMPLEXES for B-cell recognition they are considered so by some authors. ||| associated with definition: Joined in some kind of relationship. ||| FAP definition: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

This study also provided evidence for the pathological nature of amino acid changes in APC associated with both @@FAP## and non-FAP @@colorectal cancer## 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Useful knowledge : ||| European definition: Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. ||| multicenter study definition: A work that reports on a study executed by several cooperating institutions. ||| phenylalanine hydroxylase deficiency definition: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). ||| classification definition: The systematic arrangement of entities in any field into categories classes based on common characteristics such as properties, morphology, subject matter, etc. ||| 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. ||| general system definition: A group of independent but interrelated elements comprising a unified whole. ||| metabolic 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. ||| Output:

A European multicenter study of @@phenylalanine hydroxylase deficiency##: classification of 105 mutations and a general system for genotype-based prediction of metabolic 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase (PAH). Useful knowledge : ||| Phenylketonuria definition: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). ||| PKU definition: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). ||| mild hyperphenylalaninemia definition: A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders. ||| MHP definition: None ||| allelic disorders definition: Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| encoding definition: None ||| phenylalanine hydroxylase definition: An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1. ||| PAH definition: The glycine amide of 4-aminobenzoic acid. Its sodium salt is used as a diagnostic aid to measure effective renal plasma flow (ERPF) and excretory capacity. ||| Output:

@@Phenylketonuria## (@@PKU##) and @@mild hyperphenylalaninemia## (@@MHP##) are @@allelic disorders## caused by mutations in the gene encoding phenylalanine hydroxylase (PAH).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Previous studies have suggested that the highly variable metabolic phenotypes of PAH deficiency correlate with PAH genotypes. Useful knowledge : ||| studies definition: None ||| variable definition: Marked by diversity or difference; liable to or capable of change. ||| metabolic definition: None ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| PAH definition: The glycine amide of 4-aminobenzoic acid. Its sodium salt is used as a diagnostic aid to measure effective renal plasma flow (ERPF) and excretory capacity. ||| deficiency definition: None ||| correlate definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| PAH definition: The glycine amide of 4-aminobenzoic acid. Its sodium salt is used as a diagnostic aid to measure effective renal plasma flow (ERPF) and excretory capacity. ||| genotypes definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| Output:

Previous studies have suggested that the highly variable metabolic phenotypes of @@PAH deficiency## correlate with PAH genotypes.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We identified both causative mutations in 686 patients from seven European centers. Useful knowledge : ||| identified definition: The procedure of having an identity established. ||| causative mutations definition: Existing in such a way that some specific thing happens as a result. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| European centers definition: Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. ||| Output:

We identified both causative mutations in 686 patients from seven European centers.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: On the basis of the phenotypic characteristics of 297 functionally hemizygous patients, 105 of the mutations were assigned to one of four arbitrary phenotype categories. Useful knowledge : ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| characteristics definition: The distinguishing qualities or prominent aspect of a person, object, action, process, or substance. ||| hemizygous definition: Having only one copy of a particular gene or genetic region. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| arbitrary definition: Based on or subject to individual discretion or preference or sometimes impulse or caprice. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| categories definition: A grouping of items based on some commonality or by user defined characteristics. ||| Output:

On the basis of the phenotypic characteristics of 297 functionally hemizygous patients, 105 of the mutations were assigned to one of four arbitrary phenotype categories.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We proposed and tested a simple model for correlation between genotype and phenotypic outcome. Useful knowledge : ||| tested definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| model definition: representation of a process, system, or subject area that can be manipulated to demonstrate the effects that various actions will have on the process, system, or subject area; generally developed for understanding, analysis, improvement, and/or replacement of the process, system, or subject area. ||| correlation definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| Output:

We proposed and tested a simple model for correlation between genotype and phenotypic outcome.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The observed phenotype matched the predicted phenotype in 79% of the cases, and in only 5 of 184 patients was the observed phenotype more than one category away from that expected. Useful knowledge : ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| cases definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

The observed phenotype matched the predicted phenotype in 79% of the cases, and in only 5 of 184 patients was the observed phenotype more than one category away from that expected.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Among the seven contributing centers, the proportion of patients for whom the observed phenotype did not match the predicted phenotype was 4% -23% (P <. Useful knowledge : ||| centers definition: A point or area that is approximately central within some larger region or structure. ||| proportion definition: A part, fraction, share, or number considered in relation to the whole amount or number. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

Among the seven contributing centers, the proportion of patients for whom the observed phenotype did not match the predicted phenotype was 4% -23% (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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 0001), suggesting that differences in methods used for mutation detection or phenotype classification may account for a considerable proportion of genotype-phenotype inconsistencies. Useful knowledge : ||| methods definition: A series of steps taken in order to conduct research. ||| mutation detection definition: The detection by physical, chemical, or biological means of an altered DNA sequence. Includes SSCP, DNA sequencing, hybridization, and reporter gene expression. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| classification definition: The systematic arrangement of entities in any field into categories classes based on common characteristics such as properties, morphology, subject matter, etc. ||| proportion definition: A part, fraction, share, or number considered in relation to the whole amount or number. ||| genotype-phenotype definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| inconsistencies definition: A description about the firmness, uniformity or make-up of an entity. ||| Output:

0001), suggesting that differences in methods used for mutation detection or phenotype classification may account for a considerable proportion of genotype-phenotype inconsistencies.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Our data indicate that the PAH-mutation genotype is the main determinant of metabolic phenotype in most patients with PAH deficiency. Useful knowledge : ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| genotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| metabolic 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. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| PAH definition: The glycine amide of 4-aminobenzoic acid. Its sodium salt is used as a diagnostic aid to measure effective renal plasma flow (ERPF) and excretory capacity. ||| deficiency definition: None ||| Output:

Our data indicate that the PAH-mutation genotype is the main determinant of metabolic phenotype in most patients with @@PAH deficiency##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In the present study, the classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in > 10, 000 genotypes, which may be useful for the management of hyperphenylalaninemia in newborns. Useful knowledge : ||| study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| classification definition: The systematic arrangement of entities in any field into categories classes based on common characteristics such as properties, morphology, subject matter, etc. ||| PAH definition: The glycine amide of 4-aminobenzoic acid. Its sodium salt is used as a diagnostic aid to measure effective renal plasma flow (ERPF) and excretory capacity. ||| 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. ||| prediction definition: An extrapolation of given data into the future. ||| biochemical definition: Of or relating to biochemistry; involving chemical processes in living organisms. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| genotypes definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| management definition: Performing or possessing executive duties; acting as a supervisor or manager. ||| hyperphenylalaninemia definition: any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism. ||| newborns definition: An infant during the first 28 days after birth. ||| Output:

In the present study, the classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in > 10, 000 genotypes, which may be useful for the management of @@hyperphenylalaninemia## in newborns.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Useful knowledge : ||| Disruption definition: An interruption or interference in continuity. ||| splicing definition: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. ||| CUG-binding protein definition: None ||| myotonic dystrophy definition: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. ||| Output:

Disruption of splicing regulated by a CUG-binding protein in @@myotonic 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Myotonic dystrophy (DM) is caused by a CTG expansion in the 3 untranslated region of the DM gene. Useful knowledge : ||| Myotonic dystrophy definition: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| CTG definition: This gene plays a role in cell motility. ||| expansion definition: The process in which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present. [GOC:ai] ||| DM gene definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| Output:

@@Myotonic dystrophy## (@@DM##) is caused by a CTG expansion in the 3 untranslated region of the @@DM## 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: One model of DM pathogenesis suggests that RNAs from the expanded allele create a gain-of-function mutation by the inappropriate binding of proteins to the CUG repeats. Useful knowledge : ||| model definition: representation of a process, system, or subject area that can be manipulated to demonstrate the effects that various actions will have on the process, system, or subject area; generally developed for understanding, analysis, improvement, and/or replacement of the process, system, or subject area. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| pathogenesis definition: OBSOLETE. The set of specific processes that generate the ability of an organism to induce an abnormal, generally detrimental state in another organism. [GOC:go_curators] ||| RNAs definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| 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. ||| gain-of-function mutation definition: A change in the nucleotide sequence of an FGFR family gene that that results in constitutive activation the encoded fibroblast growth factor receptor protein and its downstream signaling pathways. ||| inappropriate definition: Not in keeping with what is correct or proper. ||| binding definition: The action of attracting something and forming a bond with it. ||| proteins 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. ||| CUG definition: Human NOD2 wild-type allele is located in the vicinity of 16q21 and is approximately 36 kb in length. This allele, which encodes nucleotide-binding oligomerization domain-containing protein 2, plays a role in the modulation of both cell death and immune response. Mutation of the gene is associated with Blau syndrome, Crohn disease, ulcerative colitis, and early-onset sarcoidosis. ||| repeats definition: Make or do or perform again. ||| Output:

One model of @@DM## pathogenesis suggests that RNAs from the expanded allele create a gain-of-function mutation by the inappropriate binding of proteins to the CUG repeats.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein, CUG-binding protein (CUG-BP), may mediate the trans-dominant effect of the RNA. Useful knowledge : ||| Data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| nuclear ribonucleoprotein definition: Highly conserved nuclear RNA-protein complexes that function in RNA processing in the nucleus, including pre-mRNA splicing and pre-mRNA 3'-end processing in the nucleoplasm, and pre-rRNA processing in the nucleolus (see RIBONUCLEOPROTEINS, SMALL NUCLEOLAR). ||| CUG-binding protein definition: None ||| CUG-BP definition: None ||| effect definition: A phenomenon that follows and is caused by some previous phenomenon. ||| RNA definition: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) ||| Output:

Data presented here indicate that the conserved heterogeneous nuclear ribonucleoprotein, CUG-binding protein (CUG-BP), may mediate the trans-dominant effect of the RNA.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: CUG-BP was found to bind to the human cardiac troponin T (cTNT) pre-messenger RNA and regulate its alternative splicing. Useful knowledge : ||| CUG-BP definition: None ||| bind definition: The action of attracting something and forming a bond with it. ||| human definition: Members of the species Homo sapiens. ||| regulate definition: A rule or order issued by an authority stating what may or may not be done or how something must be done. ||| splicing definition: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. ||| Output:

CUG-BP was found to bind to the human cardiac troponin T (cTNT) pre-messenger RNA and regulate its alternative splicing.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Splicing of cTNT was disrupted in DM striated muscle and in normal cells expressing transcripts that contain CUG repeats. Useful knowledge : ||| Splicing definition: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. ||| cTNT definition: Human TNNT2 wild-type allele is located in the vicinity of 1q32 and is approximately 19 kb in length. This allele, which encodes troponin T, cardiac muscle, is involved in muscle contraction. ||| disrupted definition: None ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| striated muscle definition: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles. ||| normal cells definition: None ||| expressing definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| transcripts definition: The initial RNA molecule produced by transcription. ||| CUG definition: Human NOD2 wild-type allele is located in the vicinity of 16q21 and is approximately 36 kb in length. This allele, which encodes nucleotide-binding oligomerization domain-containing protein 2, plays a role in the modulation of both cell death and immune response. Mutation of the gene is associated with Blau syndrome, Crohn disease, ulcerative colitis, and early-onset sarcoidosis. ||| repeats definition: Make or do or perform again. ||| Output:

Splicing of cTNT was disrupted in @@DM## striated muscle and in normal cells expressing transcripts that contain CUG repeats.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Altered expression of genes regulated posttranscriptionally by CUG-BP therefore may contribute to DM pathogenesis.. Useful knowledge : ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| genes 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. ||| posttranscriptionally definition: Post-transcriptional biological modification of messenger, transfer, or ribosomal RNAs or their precursors. It includes cleavage, methylation, thiolation, isopentenylation, pseudouridine formation, conformational changes, and association with ribosomal protein. ||| CUG-BP definition: None ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| pathogenesis definition: OBSOLETE. The set of specific processes that generate the ability of an organism to induce an abnormal, generally detrimental state in another organism. [GOC:go_curators] ||| Output:

Altered expression of genes regulated posttranscriptionally by CUG-BP therefore may contribute to @@DM## pathogenesis..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). Useful knowledge : ||| Maternal definition: Female parents, human or animal. ||| Prader-Willi syndrome definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| gamete definition: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS. ||| complementation definition: the restoration of wild-type function by two different mutations brought together in the same cell; interaction between two genetic units, one or both of which are defective, permitting the organism containing these units to function normally, whereas it could not do so if either unit were absent. ||| case definition: None ||| familial translocation definition: Any type of genetic recombination involving exchange of DNA between non-homologous chromosomes, which often occurs as the result of non-homologous end-joining of broken DNA strands. Chromosomal translocation is involved in repairing broken DNA and in maintaining cell viability at the expense of long term genomic stability. This process is is associated with particular types of leukemia, infertility and Down Syndrome. ||| Output:

@@Maternal disomy## and @@Prader-Willi syndrome## consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). Useful knowledge : ||| Maternal definition: Female parents, human or animal. ||| uniparental disomy definition: A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome. ||| UPD definition: Human UROD wild-type allele is located in the vicinity of 1p34 and is approximately 4 kb in length. This allele, which encodes uroporphyrinogen decarboxylase protein, plays a role in the regulation of heme biosynthesis. Mutation of the gene is associated with both familial porphyria cutanea tarda and hepatoerythropoietic porphyria. ||| chromosome 15 definition: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. ||| cases definition: None ||| Prader-Willi syndrome definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| PWS definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| Output:

@@Maternal uniparental disomy (UPD) for chromosome 15## is responsible for an estimated 30% of cases of @@Prader-Willi syndrome## (@@PWS##).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t (3; 15) (p25; q11. Useful knowledge : ||| report definition: Detailed account or statement or formal record of the proceedings of a meeting or session. May also document status or progress of an activity or research project. ||| case definition: None ||| maternal definition: Female parents, human or animal. ||| PWS definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| segregation definition: Barriers based on ethnicity or other group group membership. ||| paternal t definition: A person related by lineage through the father's side of the family. ||| p25 definition: Neutrophil gelatinase-associated lipocalin (198 aa, ~23 kDa) is encoded by the human LCN2 gene. This protein may play a role in iron transport, apoptosis, and innate immunity. ||| Output:

We report on an unusual case of @@maternal disomy 15## in @@PWS## that is most consistent with adjacent-1 segregation of a paternal t (3; 15) (p25; q11.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 2) with simultaneous maternal meiotic nondisjunction for chromosome 15. Useful knowledge : ||| simultaneous definition: Accessory, accompanying especially in a subordinate or incidental way, occurring or existing during the same period of time. ||| maternal definition: Female parents, human or animal. ||| meiotic nondisjunction definition: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none. ||| Output:

2) with simultaneous maternal meiotic nondisjunction for chromosome 15.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The patient (J. Useful knowledge : ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

The patient (J.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: B. Useful knowledge : ||| B. definition: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. Zebrafish is a model organism for drug assay and cancer research. ||| Output:

B.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: ), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der (15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. Useful knowledge : ||| white definition: A group distinguished by classification according to physical features. This group, also called Europoid, centers around the Mediterranean Sea but includes other parts of Europe. (from Winick: Dictionary of Anthropology, 1972; American Heritage Dictionary, 2d College ed) ||| 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. ||| PWS definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| chromosomes definition: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| supernumerary definition: Exceeding the normal or usual number. ||| paternal der definition: A person related by lineage through the father's side of the family. ||| short arm definition: None ||| proximal long arm of chromosome 15 definition: Proximal (short) arm of chromosome 15 ||| distal chromosome arm 3p definition: Proximal (short) arm of chromosome 3 ||| Output:

), a 17-year-old white male with @@PWS##, was found to have 47 chromosomes with a supernumerary, paternal der (15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The t (3; 15) was present in the balanced state in the patients father and a sister. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| father definition: Male parents, human or animal. ||| sister definition: A female sibling. ||| Output:

The t (3; 15) was present in the balanced state in the patients father and a sister.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J. Useful knowledge : ||| Fluorescent definition: None ||| PWS definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| critical region definition: Being in or verging on a state of crisis or emergency; urgently needed; absolutely necessary. ||| derivative chromosome 3 definition: None ||| deletion definition: None ||| PWS definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| 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. ||| normal pair definition: In pathology, a term that is used to describe a tissue specimen that has a normal appearance. ||| Output:

Fluorescent in situ hybridization analysis demonstrated that the @@PWS## critical region resided on the derivative chromosome 3 and that there was no deletion of the @@PWS## region on the normal pair of 15s present in J.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J. Useful knowledge : ||| B. Methylation definition: Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed) ||| analysis definition: None ||| exon alpha 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. ||| small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene definition: This gene plays a role in splicing of mRNA. ||| pattern definition: An arrangement of objects, facts, behaviors, or other things which have scientific, mathematical, geometric, statistical, or other meaning. ||| maternal chromosome 15 definition: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. ||| Output:

B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. Useful knowledge : ||| B. definition: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. Zebrafish is a model organism for drug assay and cancer research. ||| Maternal definition: Female parents, human or animal. ||| polymerase chain reaction analysis definition: None ||| microsatellite repeats definition: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs). ||| gamma-aminobutyric acid receptor beta3 subunit definition: None ||| Output:

B.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A niece (B. Useful knowledge : ||| B. definition: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. Zebrafish is a model organism for drug assay and cancer research. ||| Output:

@@Maternal disomy## was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: B.) Useful knowledge : ||| B. definition: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. Zebrafish is a model organism for drug assay and cancer research. ||| Output:

A niece (B.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: with 45 chromosomes and the derivative 3 but without the der (15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Useful knowledge : ||| chromosomes definition: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| derivative 3 definition: substance produced from skin either directly or by modification of the cells or morphology of the skin. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| consistent with definition: Marked by a reasonable or logical relation of parts and holding together as a harmonious or credible whole. ||| haploinsufficiency definition: A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. ||| Uniparental disomy definition: A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome. ||| associated with definition: Joined in some kind of relationship. ||| segregation definition: Barriers based on ethnicity or other group group membership. ||| non-Robertsonian translocations definition: A chromosomal translocation where the participating chromosomes each break at the centromere and the long arms fuse to form a single, large chromosome. ||| knowledge definition: The body of truths or facts accumulated in the course of time, the cumulated sum of information, its volume and nature, in any civilization, period, or country. ||| case definition: None ||| PWS definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| Output:

B.)

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS Useful knowledge : ||| findings definition: None ||| gamete definition: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS. ||| complementation definition: the restoration of wild-type function by two different mutations brought together in the same cell; interaction between two genetic units, one or both of which are defective, permitting the organism containing these units to function normally, whereas it could not do so if either unit were absent. ||| maternal definition: Female parents, human or animal. ||| UPD definition: Human UROD wild-type allele is located in the vicinity of 1p34 and is approximately 4 kb in length. This allele, which encodes uroporphyrinogen decarboxylase protein, plays a role in the regulation of heme biosynthesis. Mutation of the gene is associated with both familial porphyria cutanea tarda and hepatoerythropoietic porphyria. ||| PWS definition: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) ||| Output:

with 45 chromosomes and the derivative 3 but without the der (15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. @@Uniparental disomy## associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of @@PWS##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Segregation distortion in myotonic dystrophy. Useful knowledge : ||| Segregation definition: Barriers based on ethnicity or other group group membership. ||| distortion definition: None ||| myotonic dystrophy definition: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. ||| Output:

Segregation distortion in @@myotonic 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Myotonic dystrophy (DM) is an autosomal dominant disease which, in the typical pedigree, shows a three generation anticipation cascade. Useful knowledge : ||| Myotonic dystrophy definition: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| autosomal dominant disease definition: An autosomal dominant hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). ||| pedigree 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. ||| anticipation definition: None ||| Output:

@@Myotonic dystrophy## (@@DM##) is an @@autosomal dominant disease## which, in the typical pedigree, shows a three generation anticipation cascade.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: This results in infertility and congenital myotonic dystrophy (CDM) with the disappearance of DM in that pedigree. 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. ||| infertility definition: A reduced or absent capacity to reproduce. ||| congenital myotonic dystrophy ( definition: Myotonic dystrophy that is present at birth. ||| CDM definition: This gene is involved in the stabilization of actin filaments. ||| disappearance definition: The outward or visible aspect of a person or thing. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| pedigree 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:

This results in @@infertility## and @@congenital myotonic dystrophy## (@@CDM##) with the disappearance of @@DM## in that pedigree.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The concept of segregation distortion, where there is preferential transmission of the larger allele at the DM locus, has been put forward to explain partially the maintenance of DM in the population. Useful knowledge : ||| concept definition: general notion; abstract idea; thought. ||| segregation definition: Barriers based on ethnicity or other group group membership. ||| distortion definition: None ||| transmission definition: Used with diseases for studies of the modes of transmission. ||| 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. ||| DM locus definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| maintenance definition: The upkeep of property or equipment. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| population definition: The total number of individuals inhabiting a particular region or area. ||| Output:

The concept of segregation distortion, where there is preferential transmission of the larger allele at the @@DM## locus, has been put forward to explain partially the maintenance of @@DM## in the 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In a survey of DM in Northern Ireland, 59 pedigrees were ascertained. Useful knowledge : ||| survey definition: A document used in a method of data collection that involves interviewing (or giving questionnaires to) a representative and often large group of people. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| Northern Ireland definition: The northern one-sixth of the island of Ireland - between the North Atlantic Ocean and the North Sea; northwest of France. The capital is Belfast. ||| 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 a survey of @@DM## in Northern Ireland, 59 pedigrees were ascertained.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Sibships where the status of all the members had been identified were examined to determine the transmission of the DM expansion from affected parents to their offspring. Useful knowledge : ||| status definition: A condition or state at a particular time. ||| members definition: One of the persons who compose a social group, especially an individual who has joined and participates in a group organization. ||| identified definition: The procedure of having an identity established. ||| transmission definition: Used with diseases for studies of the modes of transmission. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| expansion definition: The process in which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present. [GOC:ai] ||| affected definition: To be influenced by or changed. ||| parents definition: Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. ||| offspring definition: A first-generation, biological descendant of any age. ||| Output:

Sibships where the status of all the members had been identified were examined to determine the transmission of the @@DM## expansion from affected parents to their offspring.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Where the transmitting parent was male, 58. Useful knowledge : ||| transmitting definition: The transfer of information from one source to another. ||| parent definition: Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. ||| 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. ||| Output:

Where the transmitting parent was male, 58.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 3% of the offspring were affected, and in the case of a female transmitting parent, 68. Useful knowledge : ||| offspring definition: A first-generation, biological descendant of any age. ||| affected definition: To be influenced by or changed. ||| case definition: None ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| transmitting definition: The transfer of information from one source to another. ||| parent definition: Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. ||| Output:

3% of the offspring were affected, and in the case of a female transmitting parent, 68.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 7% were affected. Useful knowledge : ||| affected definition: To be influenced by or changed. ||| Output:

7% were 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 '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Studies on meiotic drive in DM have shown increased transmission of the larger allele at the DM locus in non-DM heterozygotes for CTGn. Useful knowledge : ||| Studies definition: None ||| meiotic definition: The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| increased definition: None ||| transmission definition: Used with diseases for studies of the modes of transmission. ||| 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. ||| DM locus definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| heterozygotes definition: An individual having different alleles at one or more loci regarding a specific character. ||| Output:

Studies on meiotic drive in @@DM## have shown increased transmission of the larger allele at the @@DM## locus in non-DM heterozygotes for CTGn.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: This study provides further evidence that the DM expansion tends to be transmitted preferentially. Useful knowledge : ||| study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| evidence definition: Knowledge on which to base belief. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| expansion definition: The process in which a cell irreversibly increases in size over time by accretion and biosynthetic production of matter similar to that already present. [GOC:ai] ||| 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). ||| Output:

This study provides further evidence that the @@DM## expansion tends to be transmitted preferentially.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Useful knowledge : ||| Ataxia-telangiectasia definition: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). ||| 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. ||| detection definition: The activity of perceiving, discerning, discovering or identifying. ||| ATM gene definition: This gene is involved in apoptosis, DNA repair and cell cycle regulation. ||| ethnic populations definition: a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. ||| Output:

@@Ataxia-telangiectasia##: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations. Useful knowledge : ||| evaluation definition: Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. ||| ATM definition: None ||| heterozygotes definition: An individual having different alleles at one or more loci regarding a specific character. ||| susceptibility definition: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. ||| diseases 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. ||| 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. ||| 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. ||| frequencies definition: The number of occurrences of something within a given time period. ||| ataxia-telangiectasia (A-T) homozygotes definition: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). ||| ethnic populations definition: a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. ||| Output:

To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as @@breast cancer##, we have attempted to define the most common mutations and their frequencies in @@ataxia-telangiectasia## (@@A-T##) homozygotes from 10 ethnic populations.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Both genomic mutations and their effects on cDNA were characterized. Useful knowledge : ||| genomic 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. ||| effects definition: A phenomenon that follows and is caused by some previous phenomenon. ||| 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. ||| Output:

Both genomic mutations and their effects on cDNA were characterized.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Protein-truncation testing of the entire ATM cDNA detected 92 (66%) truncating mutations in 140 mutant alleles screened. Useful knowledge : ||| Protein-truncation definition: Termination of the translation process at a stop codon. ||| testing definition: A procedure for critical evaluation; a means of determining the presence, quality, or truth of something. ||| ATM definition: None ||| 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. ||| 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> ||| truncating definition: Translation of a truncated form of a wild-type protein that originates from a mutation or mutations in the coding sequence of a gene. Genetic alterations that yield truncated protein products include frameshift mutations, nonsense mutations or splice site mutations. The activity of a truncated protein is usually reduced or abolished in comparison to the activity of the wild-type protein. ||| 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. ||| mutant 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. ||| screened definition: To screen in advance of a time or event, often before a more detailed selection process. ||| Output:

Protein-truncation testing of the entire ATM cDNA detected 92 (66%) truncating mutations in 140 mutant alleles screened.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. 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 pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The haplotyping of patients with identical mutations indicates that almost all of these represent common ancestry and that very few spontaneously recurring ATM mutations exist. Useful knowledge : ||| haplotyping 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. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| identical definition: Exactly alike; incapable of being perceived as different; being the exact same one; coinciding exactly when superimposed; having properties with uniform values along all axes. ||| 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. ||| ancestry definition: A person's descent or lineage, from a person or from a population. ||| spontaneously definition: A strain of Rattus norvegicus with elevated blood pressure used as a model for studying hypertension and stroke. ||| ATM definition: None ||| 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:

The haplotyping of patients with identical mutations indicates that almost all of these represent common ancestry and that very few spontaneously recurring ATM mutations exist.