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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: We report a Japanese family with adrenoleukodystrophy (ALD) with a three base pair deletion (delGAG 291) in the ALD gene. Useful knowledge : ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| base pair deletion definition: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. ||| ALD gene definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output:

We report a Japanese family with @@adrenoleukodystrophy## (@@ALD##) with a three base pair deletion (delGAG 291) in the @@ALD## gene.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 variety of phenotypes were observed within this family. Useful knowledge : ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| Output:

A variety of phenotypes were observed within this family.

The task is to label all mentions of diseases in a sentence, by 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: While the proband (patient 1) was classified as having a rare intermediate type of adult cerebral and cerebello-brain stem forms, his younger brother (patient 2) and nephew (patient 3) had a childhood ALD type. Useful knowledge : ||| proband definition: None ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| intermediate type definition: Lying between two extremes in time or space or degree. ||| adult definition: A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. ||| cerebral definition: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. ||| younger brother definition: None ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| nephew definition: A son of your brother or sister. ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| childhood definition: A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| type definition: Something distinguishable as an identifiable class based on common qualities. ||| Output:

While the proband (patient 1) was classified as having a rare intermediate type of adult cerebral and cerebello-brain stem forms, his younger brother (patient 2) and nephew (patient 3) had a childhood @@ALD## type.

The task is to label all mentions of diseases in a sentence, by 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: Another nephew (patient 4) of patient 1 was classified as having an adolescent form. Useful knowledge : ||| nephew definition: A son of your brother or sister. ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| patient 1 definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| adolescent definition: A person 13 to 18 years of age. ||| Output:

Another nephew (patient 4) of patient 1 was classified as having an adolescent form.

The task is to label all mentions of diseases in a sentence, by 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 tau level in the cerebrospinal fluid (CSF) in patient 1 was as high as that of patients with Alzheimers disease (AD). Useful knowledge : ||| tau definition: A synthetic uridine pro-drug that is converted to uridine in vivo. Uridine, a pyrimidine nucleotide, has been used in a variety of diseases including depressive disorders and inherited myopathies. (NCI04) ||| level definition: A position on a scale measuring intensity, quality, or amount. ||| cerebrospinal fluid definition: A watery fluid that is continuously produced in the CHOROID PLEXUS and circulates around the surface of the BRAIN; SPINAL CORD; and in the CEREBRAL VENTRICLES. ||| CSF definition: A watery fluid that is continuously produced in the CHOROID PLEXUS and circulates around the surface of the BRAIN; SPINAL CORD; and in the CEREBRAL VENTRICLES. ||| patient 1 definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Alzheimers disease definition: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57) ||| AD definition: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57) ||| Output:

The tau level in the cerebrospinal fluid (CSF) in patient 1 was as high as that of patients with @@Alzheimers disease## (@@AD##).

The task is to label all mentions of diseases in a sentence, by 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: His brain magnetic resonance image (MRI) showed abnormalities in the bilateral cerebellar hemispheres and brain stem, but not in the cerebral white matter, where marked reductions of the cerebral blood flow and oxygen metabolism were clearly demonstrated by positron emission tomography (PET). Useful knowledge : ||| brain magnetic resonance image definition: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. ||| MRI definition: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. ||| abnormalities definition: Malformations of organs or body parts during development in utero. ||| bilateral definition: Affecting both sides of the body or a matched pair of organs. ||| brain stem definition: The part of the brain that connects the CEREBRAL HEMISPHERES with the SPINAL CORD. It consists of the MESENCEPHALON; PONS; and MEDULLA OBLONGATA. ||| cerebral white matter definition: A type of brain tissue in the cerebrum consisting of myelinated axons and glial cells. ||| reductions definition: A chemical reaction that results in a gain of electrons by one of the chemical species involved in the reaction. ||| cerebral blood flow definition: The circulation of blood through the BLOOD VESSELS of the BRAIN. ||| oxygen metabolism definition: The chemical reactions and pathways involving diatomic oxygen (O2). [GOC:mah] ||| positron emission tomography definition: An imaging technique using compounds labelled with short-lived positron-emitting radionuclides (such as carbon-11, nitrogen-13, oxygen-15 and fluorine-18) to measure cell metabolism. It has been useful in study of soft tissues such as CANCER; CARDIOVASCULAR SYSTEM; and brain. SINGLE-PHOTON EMISSION-COMPUTED TOMOGRAPHY is closely related to positron emission tomography, but uses isotopes with longer half-lives and resolution is lower. ||| PET definition: Animals kept by humans for companionship and enjoyment, as opposed to DOMESTIC ANIMALS such as livestock or farm animals, which are kept for economic reasons. ||| Output:

His brain magnetic resonance image (MRI) showed @@abnormalities in the bilateral cerebellar hemispheres## and brain stem, but not in the cerebral white matter, where marked reductions of the cerebral blood flow and oxygen metabolism were clearly demonstrated by positron emission tomography (PET).

The task is to label all mentions of diseases in a sentence, by 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 patients 2 and 3, the autopsy findings showed massive demyelination of the cerebral white matter with sparing of the U-fibers, compatible with the findings of childhood ALD. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| autopsy definition: Postmortem examination of the body. ||| findings definition: None ||| demyelination definition: Breakdown, or abnormal development, of a nerve fiber myelin sheath. ||| cerebral white matter definition: A type of brain tissue in the cerebrum consisting of myelinated axons and glial cells. ||| findings definition: None ||| childhood definition: A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output:

In patients 2 and 3, the autopsy findings showed massive @@demyelination of the cerebral white matter## with sparing of the U-fibers, compatible with the findings of childhood @@ALD##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: Oleic and erucic acids (Lorenzos Oil) were administered to patients 1 and 4, but sufficient effectiveness was not obtained. Useful knowledge : ||| Oleic definition: An unsaturated fatty acid that is the most widely distributed and abundant fatty acid in nature. It is used commercially in the preparation of oleates and lotions, and as a pharmaceutical solvent. (Stedman, 26th ed) ||| erucic acids definition: cis-13-Docosenoic Acids. 22-Carbon monounsaturated, monocarboxylic acids. ||| Lorenzos Oil definition: An orally-administered oil composed of the monounsaturated fatty acids glyceryl trioleate (GTO), the triacylglycerol form of oleic acid derived from olive oil, and glyceryl trierucate (GTE), the triacylglycerol form of erucic acid derived from rapeseed oil, in a 4:1 ratio, that can be used in the treatment of adrenoleukodystrophy (ALD). Upon oral administration of Lorenzo's oil, the monounsaturated fatty acids compete with saturated fatty acids as substrates for enzymes in the elongation of very long-chain fatty acids (ELOVL) family. This results in the elongation and production of monounsaturated very long-chain fatty acids (VLCFAs) and reduces the elongation of saturated VLCFAs. This reduces the plasma levels of saturated VLCFAs and prevents their accumulation in the brain, thereby preventing demyelination of cerebral nerves and halting the progression of ALD. ||| administered definition: The act of having given something (e.g., a medication or test). ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| effectiveness definition: The capacity to bring about a desired effect. ||| Output:

Oleic and erucic acids (Lorenzos Oil) were administered to patients 1 and 4, but sufficient effectiveness was not obtained.

The task is to label all mentions of diseases in a sentence, by 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 findings in this family suggest that delGAG291 is part of the cause of Japanese ALD with phenotypic variations. Useful knowledge : ||| findings definition: None ||| Japanese definition: An East Asian language spoken as the official language of Japan. ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| phenotypic definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| variations definition: An alteration or difference from a norm or standard. ||| Output:

The findings in this family suggest that delGAG291 is part of the cause of Japanese @@ALD## with phenotypic variations.

The task is to label all mentions of diseases in a sentence, by 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: Moreover, although the scale of the study is limited, there is a possibility that PET can detect an insidious lesion which is undetectable by computed tomogram (CT) or MRI analysis, and that the higher level of tau reflects the process of neuronal degeneration in ALD. 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. ||| PET definition: Animals kept by humans for companionship and enjoyment, as opposed to DOMESTIC ANIMALS such as livestock or farm animals, which are kept for economic reasons. ||| detect 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> ||| insidious definition: None ||| lesion definition: A localized pathological or traumatic structural change, damage, deformity, or discontinuity of tissue, organ, or body part. ||| computed tomogram definition: Tomography using x-ray transmission and a computer algorithm to reconstruct the image. ||| 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. ||| MRI analysis definition: Examination and interpretation; the process of identifying an issue to be understood and addressed, modelling the issue, investigating the model results, interpreting the results, and possibly making a recommendation. The concept also refers to the examination and study of a whole in terms of the parts composing it. ||| higher definition: An elevated level or position or degree; greater than normal in degree or intensity or amount. ||| level definition: A position on a scale measuring intensity, quality, or amount. ||| tau definition: A synthetic uridine pro-drug that is converted to uridine in vivo. Uridine, a pyrimidine nucleotide, has been used in a variety of diseases including depressive disorders and inherited myopathies. (NCI04) ||| process definition: None ||| neuronal degeneration definition: None ||| ALD definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS). ||| Output:

Moreover, although the scale of the study is limited, there is a possibility that PET can detect an @@insidious lesion## which is undetectable by computed tomogram (CT) or MRI analysis, and that the higher level of tau reflects the process of @@neuronal degeneration## in @@ALD##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: Lorenzos Oil should be given in the early stage.. Useful knowledge : ||| early stage definition: Cancer that is localized in its original site of growth, or involves adjacent lymph nodes but has not spread to other anatomic sites. ||| Output:

Lorenzos Oil should be given in the early stage..

The task is to label all mentions of diseases in a sentence, by 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: Two frequent missense mutations in Pendred syndrome. Useful knowledge : ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| Pendred syndrome definition: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. ||| Output:

Two frequent missense mutations in @@Pendred syndrome##.

The task is to label all mentions of diseases in a sentence, by 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: Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. Useful knowledge : ||| Pendred syndrome definition: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. ||| autosomal recessive disorder definition: An inherited disorder manifested only when two copies of a mutated gene are present. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| early childhood definition: A human life stage that begins at two years of age and continues until five complete years of age. ||| deafness definition: A general term for the complete loss of the ability to hear from both ears. ||| goiter definition: Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC). ||| Output:

@@Pendred syndrome## is an @@autosomal recessive disorder## characterized by early childhood @@deafness## and @@goiter##.

The task is to label all mentions of diseases in a sentence, by 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 century after its recognition as a syndrome by Vaughan Pendred, the disease gene (PDS) was mapped to chromosome 7q22-q31. Useful knowledge : ||| recognition definition: The act of seeing something as familiar. ||| syndrome definition: A characteristic symptom complex. ||| disease gene 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. ||| PDS definition: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. ||| mapped definition: The process of connecting an item or symbol to a code or concept. ||| Output:

A century after its recognition as a syndrome by Vaughan Pendred, the disease gene (PDS) was mapped to chromosome 7q22-q31.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: 1 and, recently, found to encode a putative sulfate transporter. Useful knowledge : ||| encode definition: To assign a code to represent data. ||| putative sulfate transporter definition: Highly conserved families of transmembrane anion transporters that occur in both prokaryotes and eukaryotes. In humans, they are expressed by epithelial cells in a variety of tissues and participate in diverse physiologic functions such as cell motility and regulating the composition and acidity of body fluids. Some Slc13 family proteins function as sodium ion-coupled co-transporters of sulfate and other anions. ||| Output:

1 and, recently, found to encode a putative sulfate transporter.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 performed mutation analysis of the PDS gene in patients from 14 Pendred families originating from seven countries and identified all mutations. Useful knowledge : ||| mutation analysis definition: The identification of genetic variation in a biological sample. ||| PDS gene definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Pendred definition: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. ||| countries definition: A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states. ||| identified definition: The procedure of having an identity established. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

We performed mutation analysis of the @@PDS## gene in patients from 14 @@Pendred## families originating from seven countries and identified all 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: The mutations include three single base deletions, one splice site mutation and 10 missense mutations. Useful knowledge : ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| splice site definition: Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons. ||| 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. ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| Output:

The mutations include three single base deletions, one splice site mutation and 10 missense mutations.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 missense mutation (L236P) was found in a homozygous state in two consanguineous families and in a heterozygous state in five additional non-consanguineous families. Useful knowledge : ||| missense mutation definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| homozygous state definition: An individual in which both alleles at a given locus are identical. ||| consanguineous definition: The magnitude of INBREEDING in humans. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| heterozygous state definition: An individual having different alleles at one or more loci regarding a specific character. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

One missense mutation (L236P) was found in a homozygous state in two consanguineous families and in a heterozygous state in five additional non-consanguineous families.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: Another missense mutation (T416P) was found in a homozygous state in one family and in a heterozygous state in four families. Useful knowledge : ||| missense mutation definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| homozygous state definition: An individual in which both alleles at a given locus are identical. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| heterozygous state definition: An individual having different alleles at one or more loci regarding a specific character. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

Another missense mutation (T416P) was found in a homozygous state in one family and in a heterozygous state in four families.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: Pendred patients in three non-consanguineous families were shown to be compound heterozygotes for L236P and T416P. Useful knowledge : ||| Pendred definition: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| compound heterozygotes definition: An individual having different alleles at one or more loci regarding a specific character. ||| Output:

@@Pendred## patients in three non-consanguineous families were shown to be compound heterozygotes for L236P and T416P.

The task is to label all mentions of diseases in a sentence, by 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 total, one or both of these mutations were found in nine of the 14 families analyzed. 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. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| analyzed definition: Examination and interpretation; the process of identifying an issue to be understood and addressed, modelling the issue, investigating the model results, interpreting the results, and possibly making a recommendation. The concept also refers to the examination and study of a whole in terms of the parts composing it. ||| Output:

In total, one or both of these mutations were found in nine of the 14 families analyzed.

The task is to label all mentions of diseases in a sentence, by 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 identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome. Useful knowledge : ||| 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. ||| frequent definition: Coming at short intervals or in great quantities. ||| PDS definition: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| molecular diagnosis definition: The use of molecular tools and techniques, especially gene and protein expression profiles, to diagnose disease. ||| Pendred syndrome definition: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. ||| Output:

The identification of two frequent @@PDS## mutations will facilitate the molecular diagnosis of @@Pendred syndrome##.

The task is to label all mentions of diseases in a sentence, by 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: Aspartylglucosaminuria among Palestinian Arabs. Useful knowledge : ||| Aspartylglucosaminuria definition: A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. ||| Palestinian Arabs definition: Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. ||| Output:

@@Aspartylglucosaminuria## among Palestinian Arabs.

The task is to label all mentions of diseases in a sentence, by 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: Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase (AGA). Useful knowledge : ||| Aspartylglucosaminuria definition: A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. ||| AGU definition: A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. ||| 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. ||| glycoprotein metabolism definition: The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. [GOC:go_curators, ISBN:0198506732] ||| deficiency definition: None ||| lysosomal enzyme aspartylglucosaminidase (AGA definition: An enzyme that catalyzes the conversion of N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine and water to N-acetyl-beta-D-glucosaminylamine and L-aspartate. It acts only on asparagine-oligosaccharides containing one amino acid, i.e. the ASPARAGINE has free alpha-amino and alpha-carboxyl groups. (From Enzyme Nomenclature, 1992) ||| Output:

@@Aspartylglucosaminuria## (@@AGU##) is a rare @@disorder of glycoprotein metabolism## caused by the @@deficiency of the lysosomal enzyme aspartylglucosaminidase## (AGA).

The task is to label all mentions of diseases in a sentence, by 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: AGU is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect. Useful knowledge : ||| AGU definition: A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. ||| inherited definition: Transmitted through genes from parents to offspring. (genome.gov) ||| autosomal definition: Any chromosome other than a sex chromosome. [GOC:mah] ||| recessive trait definition: trait expressed when the responsible allele is carried by both members of a pair of homologous autosomes. ||| frequency definition: None ||| Finland definition: A country in northern Europe, bordering the Baltic Sea, Gulf of Bothnia, and Gulf of Finland, between Sweden and Russia. The capital is Helsinki. ||| founder definition: None ||| effect definition: A phenomenon that follows and is caused by some previous phenomenon. ||| Output:

@@AGU## is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: While very few patients with AGU have been reported from non-Finnish origin, we diagnosed the disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| AGU definition: A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. ||| diagnosed definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| 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. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Palestinian Arabs definition: Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. ||| region definition: The continents and countries situated on those continents; the UNITED STATES and each of the constituent states arranged by region; CANADA and each of its provinces; AUSTRALIA and each of its states; the major bodies of water and major islands on both hemispheres; and selected major cities. ||| Output:

While very few patients with @@AGU## have been reported from non-Finnish origin, we diagnosed the disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem.

The task is to label all mentions of diseases in a sentence, by 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 clinical diagnosis of AGU is often difficult, in particular early in the course of the disease, and most of the patients are diagnosed after the age of 5 years. Useful knowledge : ||| clinical diagnosis definition: A diagnosis made from a study of the signs and symptoms of a disease. ||| AGU definition: A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. ||| early definition: At or near the beginning of a period of time or course of events. ||| course definition: Passage through time; duration; a systematic or/and orderly succession; a sequence, e.g. course of treatment; a mode of action or behavior; natural development, typical manner of proceeding. ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| diagnosed definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| age definition: How long something has existed; elapsed time since birth. ||| years definition: A period of time that it takes for Earth to make a complete revolution around the sun, approximately 365 days; a specific one year period. ||| Output:

The clinical diagnosis of @@AGU## is often difficult, in particular early in the course of the disease, and most of the patients are diagnosed after the age of 5 years.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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, since these patients excrete early large amounts of aspartylglucosamine in urine, biochemical screening is easy by urine chromatography.. Useful knowledge : ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| excrete definition: The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. [ISBN:0192801023] ||| aspartylglucosamine definition: None ||| urine definition: Liquid by-product of excretion produced in the kidneys, temporarily stored in the bladder until discharge through the URETHRA. ||| biochemical definition: Of or relating to biochemistry; involving chemical processes in living organisms. ||| urine chromatography definition: None ||| Output:

However, since these patients excrete early large amounts of aspartylglucosamine in urine, biochemical screening is easy by urine chromatography..

The task is to label all mentions of diseases in a sentence, by 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: Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Useful knowledge : ||| Mutation spectrum definition: The range of mutations that have occurred to a gene, or at a specific locus. ||| genotype-phenotype analyses definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| Cowden disease definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| Bannayan-Zonana syndrome definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| hamartoma syndromes definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| germline definition: None ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Output:

Mutation spectrum and genotype-phenotype analyses in @@Cowden disease## and @@Bannayan-Zonana syndrome##, two @@hamartoma syndromes## with germline PTEN mutation.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 tumour suppressor gene PTEN, which maps to 10q23. Useful knowledge : ||| tumour suppressor gene PTEN definition: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible. ||| maps definition: A usually 2-dimensional diagrammatic representation of an object or area. ||| 10q23 definition: A chromosome band present on 10q. ||| Output:

The @@tumour## suppressor gene PTEN, which maps to 10q23.

The task is to label all mentions of diseases in a sentence, by 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 and encodes a 403 amino acid dual specificity phosphatase (protein tyrosine phosphatase; PTPase), was shown recently to play a broad role in human malignancy. Useful knowledge : ||| encodes definition: To assign a code to represent data. ||| amino acid dual specificity phosphatase definition: A sub-class of protein tyrosine phosphatases that contain an additional phosphatase activity which cleaves phosphate ester bonds on SERINE or THREONINE residues that are located on the same protein. ||| protein tyrosine phosphatase definition: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis. ||| PTPase definition: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis. ||| human definition: Members of the species Homo sapiens. ||| malignancy definition: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. ||| Output:

3 and encodes a 403 amino acid dual specificity phosphatase (protein tyrosine phosphatase; PTPase), was shown recently to play a broad role in human @@malignancy##.

The task is to label all mentions of diseases in a sentence, by 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: Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial carcinomas, malignant melanoma and thyroid tumours. Useful knowledge : ||| Somatic definition: Nucleated cell which has one or more diploid sets (46 pairs) of chromosomes. ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| deletions definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. ||| 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. ||| sporadic breast definition: A carcinoma that arises from the breast and is not caused by inherited genetic mutations. ||| brain definition: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. ||| prostate definition: A gland in males that surrounds the neck of the URINARY BLADDER and the URETHRA. It secretes a substance that liquefies coagulated semen. It is situated in the pelvic cavity behind the lower part of the PUBIC SYMPHYSIS, above the deep layer of the triangular ligament, and rests upon the RECTUM. ||| kidney cancer definition: Primary or metastatic malignant neoplasm involving the kidney. ||| cell lines definition: Established cell cultures that have the potential to propagate indefinitely. ||| primary tumours definition: A tumor at the original site of origin. ||| endometrial carcinomas definition: A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. ||| malignant melanoma definition: A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) ||| thyroid tumours definition: Tumors or cancer of the THYROID GLAND. ||| Output:

Somatic PTEN deletions and mutations were observed in @@sporadic breast, brain, prostate and kidney cancer## cell lines and in several primary @@tumours## such as @@endometrial carcinomas##, @@malignant melanoma## and @@thyroid tumours##.

The task is to label all mentions of diseases in a sentence, by 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 addition, PTEN was identified as the susceptibility gene for two hamartoma syndromes Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or Ruvalcaba-Riley-Smith syndrome (MIM 153480). Useful knowledge : ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| identified definition: The procedure of having an identity established. ||| susceptibility gene definition: Mutated forms of genes which encode proteins that are essential for the control and maintenance of normal cellular processes. Inherited or somatic mutations in the wild-type form of these genes alters control of their expression, resulting in a change in control of the cell cycle. Individuals who harbor cancer-predisposing genes require fewer somatic mutations for transformation of a particular cell, thereby predisposing them to the development of cancer. ||| hamartoma syndromes definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| Cowden disease definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| CD definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| Bannayan-Zonana (BZS) definition: A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas. ||| Ruvalcaba-Riley-Smith syndrome definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| Output:

In addition, PTEN was identified as the susceptibility gene for two @@hamartoma syndromes## @@Cowden disease## (@@CD##; MIM 158350) and @@Bannayan-Zonana (BZS) or Ruvalcaba-Riley-Smith syndrome## (MIM 153480).

The task is to label all mentions of diseases in a sentence, by 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: Constitutive DNA from 37 CD families and seven BZS families was screened for germline PTEN mutations. Useful knowledge : ||| Constitutive DNA definition: Nitric oxide synthase, endothelial (1203 aa, ~133 kDa) is encoded by the human NOS3 gene. This protein plays a role in the modulation of vascular smooth muscle relaxation, VEGF-induced angiogenesis and blood coagulation. ||| CD definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| BZS definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| screened definition: To screen in advance of a time or event, often before a more detailed selection process. ||| germline 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:

Constitutive DNA from 37 @@CD## families and seven @@BZS## families was screened for germline PTEN 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: PTEN mutations were identified in 30 of 37 (81%) CD families, including missense and nonsense point mutations, deletions, insertions, a deletion/insertion and splice site mutations. Useful knowledge : ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| identified definition: The procedure of having an identity established. ||| CD families definition: A social group consisting of parents or parent substitutes and children. ||| missense definition: None ||| nonsense point mutations definition: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. ||| deletions definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. ||| insertions definition: The act of putting one thing into another. ||| deletion/insertion definition: A change in a nucleotide sequence where nucleotides in a reference sequence are replaced by other nucleotides and which is not a substitution, inversion or conversion. ||| splice site definition: Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons. ||| 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:

PTEN mutations were identified in 30 of 37 (81%) @@CD## families, including missense and nonsense point mutations, deletions, insertions, a deletion/insertion and splice site 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: These mutations were scattered over the entire length of PTEN, with the exception of the first, fourth and last exons. 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. ||| length definition: The linear extent in space from one end of something to the other end, or the extent of something from beginning to end. ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| exons 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. ||| Output:

These mutations were scattered over the entire length of PTEN, with the exception of the first, fourth and last exons.

The task is to label all mentions of diseases in a sentence, by 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 hot spot for PTEN mutation in CD was identified in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD mutations identified in this exon. Useful knowledge : ||| hot spot definition: None ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| 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. ||| CD definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| exon 5 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. ||| PTPase core motif definition: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis. ||| CD mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| identified definition: The procedure of having an identity established. ||| exon definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| Output:

A hot spot for PTEN mutation in @@CD## was identified in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) @@CD## mutations identified in this exon.

The task is to label all mentions of diseases in a sentence, by 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: Seven of 30 (23%) were within the core motif, the majority (five of seven) of which were missense mutations, possibly pointing to the functional significance of this region. Useful knowledge : ||| core motif definition: Discrete protein structural units that may fold independently of the rest of the protein and have their own functions. ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| functional definition: None ||| significance definition: In statistics, a number that expresses the probability that the result of a given experiment or study could have occurred purely by chance. This number can be a margin of error or it can indicate a confidence level. ||| region definition: The continents and countries situated on those continents; the UNITED STATES and each of the constituent states arranged by region; CANADA and each of its provinces; AUSTRALIA and each of its states; the major bodies of water and major islands on both hemispheres; and selected major cities. ||| Output:

Seven of 30 (23%) were within the core motif, the majority (five of seven) of which were missense mutations, possibly pointing to the functional significance of this region.

The task is to label all mentions of diseases in a sentence, by 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: Germline PTEN mutations were identified in four of seven (57%) BZS families studied. Useful knowledge : ||| Germline 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. ||| BZS definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

Germline PTEN mutations were identified in four of seven (57%) @@BZS## families studied.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: Interestingly, none of these mutations was observed in the PTPase core motif. 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. ||| PTPase core motif definition: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis. ||| Output:

Interestingly, none of these mutations was observed in the PTPase core motif.

The task is to label all mentions of diseases in a sentence, by 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: It is also worthy of note that a single nonsense point mutation, R233X, was observed in the germline DNA from two unrelated CD families and one BZS family. Useful knowledge : ||| germline DNA definition: None ||| CD definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| BZS definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| Output:

It is also worthy of note that a single nonsense point mutation, R233X, was observed in the germline DNA from two unrelated @@CD## families and one @@BZS## family.

The task is to label all mentions of diseases in a sentence, by 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 studies were not performed on this small group of BZS families. Useful knowledge : ||| Genotype-phenotype studies definition: Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. ||| small group definition: None ||| BZS definition: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

Genotype-phenotype studies were not performed on this small group of @@BZS## families.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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, genotype-phenotype analysis inthe group of CD families revealed two possible associations worthy of follow-up in independent analyses. Useful knowledge : ||| genotype-phenotype analysis definition: The determination of the DNA sequence of an individual. ||| group definition: Any number of entities (members) considered as a unit. ||| CD families definition: A social group consisting of parents or parent substitutes and children. ||| associations definition: A functional relationship between psychological phenomena of such nature that the presence of one tends to evoke the other; also, the process by which such a relationship is established. ||| follow-up definition: None ||| analyses definition: Any device designed to perform an analysis. ||| Output:

However, genotype-phenotype analysis inthe group of @@CD## families revealed two possible associations worthy of follow-up in independent analyses.

The task is to label all mentions of diseases in a sentence, by 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 first was an association noted in the group of CD families with breast disease. Useful knowledge : ||| association definition: A functional relationship between psychological phenomena of such nature that the presence of one tends to evoke the other; also, the process by which such a relationship is established. ||| group definition: Any number of entities (members) considered as a unit. ||| CD families definition: A social group consisting of parents or parent substitutes and children. ||| breast disease definition: Pathological processes of the BREAST. ||| Output:

The first was an association noted in the group of @@CD## families with @@breast 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: A correlation was observed between the presence/absence of a PTEN mutation and the type of breast involvement (unaffected versus benign versus malignant). Useful knowledge : ||| correlation definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| 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. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| involvement definition: To have a connection by participation or association or use; sharing in an activity or process. ||| benign definition: For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health. ||| malignant definition: Refers to abnormal cell activity manifested by decreased control over growth and function, causing tumor growth or spread into surrounding tissue and adverse effects to the host. ||| Output:

A correlation was observed between the presence/absence of a PTEN mutation and the type of breast involvement (unaffected versus benign versus malignant).

The task is to label all mentions of diseases in a sentence, by 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: Specifically and more directly, an association was also observed between the presence of a PTEN mutation and malignant breast disease. Useful knowledge : ||| association definition: A functional relationship between psychological phenomena of such nature that the presence of one tends to evoke the other; also, the process by which such a relationship is established. ||| presence definition: None ||| PTEN definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression. ||| 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. ||| malignant breast disease definition: Pathological processes of the BREAST. ||| Output:

Specifically and more directly, an association was also observed between the presence of a PTEN mutation and @@malignant breast 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: Secondly, there appeared to be an interdependent association between mutations upstream and within the PTPase core motif, the core motif containing the majority of missense mutations, and the involvement of all major organ systems (central nervous system, thyroid, breast, skin and gastrointestinal tract). Useful knowledge : ||| interdependent definition: Subject to, implying, or dependent upon something else; not absolute. ||| association definition: A functional relationship between psychological phenomena of such nature that the presence of one tends to evoke the other; also, the process by which such a relationship is established. ||| 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. ||| upstream definition: None ||| PTPase core motif definition: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis. ||| core motif definition: Discrete protein structural units that may fold independently of the rest of the protein and have their own functions. ||| missense mutations definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| involvement definition: To have a connection by participation or association or use; sharing in an activity or process. ||| organ systems definition: An anatomical structure that consists of organs and organ subclasses responsible for certain body functions. Representative examples are the gastrointestinal system, urinary system, and hematopoietic system. ||| central nervous system definition: None ||| thyroid definition: A highly vascularized endocrine gland consisting of two lobes joined by a thin band of tissue with one lobe on each side of the TRACHEA. It secretes THYROID HORMONES from the follicular cells and CALCITONIN from the parafollicular cells thereby regulating METABOLISM and CALCIUM level in blood, respectively. ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| skin definition: None ||| gastrointestinal tract definition: Generally refers to the digestive structures stretching from the MOUTH to ANUS, but does not include the accessory glandular organs (LIVER; BILIARY TRACT; PANCREAS). ||| Output:

Secondly, there appeared to be an interdependent association between mutations upstream and within the PTPase core motif, the core motif containing the majority of missense mutations, and the involvement of all major organ systems (central nervous system, thyroid, breast, skin and gastrointestinal tract).

The task is to label all mentions of diseases in a sentence, by 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, these observations would need to be confirmed by studying a larger number of CD families. Useful knowledge : ||| observations definition: The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions, with the purpose of applying the observed information to theoretical assumptions. Observation as a scientific method in the acquisition of knowledge began in classical antiquity; in modern science and medicine its greatest application is facilitated by modern technology. Observation is one of the components of the research process. ||| CD families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

However, these observations would need to be confirmed by studying a larger number of @@CD## families.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. Useful knowledge : ||| I1307K APC definition: A change in the amino acid residue at position 1307 in the adenomatosis polyposis coli protein where isoleucine has been replaced by lysine. ||| hMLH1 mutations definition: Human MLH1 wild-type allele is located in the vicinity of 3p21.3 and is approximately 57 kb in length. This allele, which encodes DNA mismatch repair protein Mlh1, plays a role in DNA mismatch repair. Aberrant alleles are associated with colon, endometrial and stomach cancers. Further, the defects in MLH1 are a cause of hereditary non-polyposis colorectal cancer. ||| hereditary non-polyposis colorectal cancer definition: An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers. It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes. ||| Output:

I1307K APC and hMLH1 mutations in a non-Jewish family with @@hereditary non-polyposis 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: We describe a French Canadian hereditary non-polyposis colorectal cancer (HNPCC) kindred which carries a novel truncating mutation in hMLH1. Useful knowledge : ||| French definition: A romance language spoken as the official language in France and 28 other countries. ||| Canadian hereditary non-polyposis colorectal cancer definition: An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers. It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes. ||| HNPCC definition: DNA mismatch repair protein Mlh1 (756 aa, ~85 kDa) is encoded by the human MLH1 gene. This protein is involved in post-replicative DNA mismatch repair. ||| kindred definition: None ||| 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. ||| 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. ||| hMLH1 definition: Human MLH1 wild-type allele is located in the vicinity of 3p21.3 and is approximately 57 kb in length. This allele, which encodes DNA mismatch repair protein Mlh1, plays a role in DNA mismatch repair. Aberrant alleles are associated with colon, endometrial and stomach cancers. Further, the defects in MLH1 are a cause of hereditary non-polyposis colorectal cancer. ||| Output:

We describe a French Canadian @@hereditary non-polyposis colorectal cancer## (@@HNPCC##) kindred which carries a novel truncating mutation in hMLH1.

The task is to label all mentions of diseases in a sentence, by 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: Interestingly, the I1307K APC polymorphism, associated with an increased risk of colorectal cancer, is also present in this family. Useful knowledge : ||| I1307K APC definition: A change in the amino acid residue at position 1307 in the adenomatosis polyposis coli protein where isoleucine has been replaced by lysine. ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| associated with definition: Joined in some kind of relationship. ||| increased definition: None ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| 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. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| Output:

Interestingly, the I1307K APC polymorphism, associated with an increased risk of @@colorectal cancer##, is also present in this family.

The task is to label all mentions of diseases in a sentence, by 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 I1307K polymorphism has previously only been identified in individuals of self-reported Ashkenazi Jewish origins. Useful knowledge : ||| I1307K definition: A change in the amino acid residue at position 1307 in the adenomatosis polyposis coli protein where isoleucine has been replaced by lysine. ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| identified definition: The procedure of having an identity established. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| self-reported definition: An individual's perspective or subjective interpretation of an event or information. ||| Ashkenazi definition: Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. ||| Jewish definition: The monotheistic religion of the Jews based on the teachings of the Hebrew Scriptures (Torah). ||| origins definition: System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides. ||| Output:

The I1307K polymorphism has previously only been identified in individuals of self-reported Ashkenazi Jewish origins.

The task is to label all mentions of diseases in a sentence, by 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 addition, in this family, there appears to be no relationship between the I1307K polymorphism and the presence or absence of cancer.. Useful knowledge : ||| family definition: A social group consisting of parents or parent substitutes and children. ||| relationship definition: A state of connectedness between people, objects, or events; to be associated or connected with something. ||| I1307K definition: A change in the amino acid residue at position 1307 in the adenomatosis polyposis coli protein where isoleucine has been replaced by lysine. ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| presence definition: None ||| absence definition: Not existing in a specified place at a specified time. ||| cancer definition: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. ||| Output:

In addition, in this family, there appears to be no relationship between the I1307K polymorphism and the presence or absence of @@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: Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Useful knowledge : ||| Wilms' tumor 1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| Dax-1 definition: Human NR0B1 wild-type allele is located within Xp21.3-p21.2 and is approximately 5 kb in length. This allele, which encodes nuclear receptor subfamily 0 group B member 1 protein, is involved in the regulation of both transcription and receptor-mediated signal transduction. Mutations in the gene are associated with both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. A duplication part of the short arm of the X chromosome, which contains this gene, in XY individuals is linked to dosage-sensitive sex reversal. ||| modulate definition: None ||| orphan nuclear receptor SF-1 definition: A broad category of receptor-like proteins that may play a role in transcriptional-regulation in the CELL NUCLEUS. Many of these proteins are similar in structure to known NUCLEAR RECEPTORS but appear to lack a functional ligand-binding domain, while in other cases the specific ligands have yet to be identified. ||| gene expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| Output:

@@Wilms' tumor## 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.

The task is to label all mentions of diseases in a sentence, by 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: Products of steroidogenic factor 1 (SF-1) and Wilms tumor 1 (WT1) genes are essential for mammalian gonadogenesis prior to sexual differentiation. Useful knowledge : ||| Products definition: Articles of food which are derived by a process of manufacture from any portion of carcasses of any animal used for food (e.g., head cheese, sausage, scrapple). ||| steroidogenic factor 1 definition: A transcription factor and member of the nuclear receptor family NR5 that is expressed throughout the adrenal and reproductive axes during development. It plays an important role in sexual differentiation, formation of primary steroidogenic tissues, and their functions in post-natal and adult life. It regulates the expression of key steroidogenic enzymes. ||| SF-1 definition: This gene plays a role in the regulation of transcription of steroid processing genes. ||| Wilms tumor 1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| mammalian definition: Warm-blooded vertebrate animals belonging to the class Mammalia, including all that possess hair and suckle their young. ||| gonadogenesis definition: The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones. [GOC:ems, ISBN:0198506732] ||| sexual differentiation definition: The process in developing sex- or gender-specific tissue, organ, or function after SEX DETERMINATION PROCESSES have set the sex of the GONADS. Major areas of sex differentiation occur in the reproductive tract (GENITALIA) and the brain. ||| Output:

Products of steroidogenic factor 1 (SF-1) and @@Wilms tumor## 1 (WT1) genes are essential for mammalian gonadogenesis prior to sexual differentiation.

The task is to label all mentions of diseases in a sentence, by 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 males, SF-1 participates in sexual development by regulating expression of the polypeptide hormone Mullerian inhibiting substance (MIS). Useful knowledge : ||| males definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| SF-1 definition: This gene plays a role in the regulation of transcription of steroid processing genes. ||| sexual development definition: The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING. ||| regulating definition: A rule or order issued by an authority stating what may or may not be done or how something must be done. ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| polypeptide hormone definition: None ||| Mullerian inhibiting substance definition: A glycoprotein that causes regression of MULLERIAN DUCTS. It is produced by SERTOLI CELLS of the TESTES. In the absence of this hormone, the Mullerian ducts develop into structures of the female reproductive tract. In males, defects of this hormone result in persistent Mullerian duct, a form of MALE PSEUDOHERMAPHRODITISM. ||| MIS definition: Muellerian-inhibiting factor (560 aa, ~59 kDa) is encoded by the human AMH gene. This protein plays a role in the development of the male reproductive system. ||| Output:

In males, SF-1 participates in sexual development by regulating expression of the polypeptide hormone Mullerian inhibiting substance (MIS).

The task is to label all mentions of diseases in a sentence, by 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: Here, we show that WT1 -KTS isoforms associate and synergize with SF-1 to promote MIS expression. Useful knowledge : ||| isoforms definition: Refers to variants of the same protein which can be separated on special conducting media using electrophoresis. The differences may arise from genetically determined differences in primary structure or by modification of the same primary sequence. ||| associate definition: None ||| SF-1 definition: This gene plays a role in the regulation of transcription of steroid processing genes. ||| promote definition: Encouragement of the progress or growth or acceptance of something. ||| MIS definition: Muellerian-inhibiting factor (560 aa, ~59 kDa) is encoded by the human AMH gene. This protein plays a role in the development of the male reproductive system. ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| Output:

Here, we show that WT1 -KTS isoforms associate and synergize with SF-1 to promote MIS expression.

The task is to label all mentions of diseases in a sentence, by 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 contrast, WT1 missense mutations, associated with male pseudohermaphroditism in Denys-Drash syndrome, fail to synergize with SF-1. Useful knowledge : ||| WT1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| associated with definition: Joined in some kind of relationship. ||| male pseudohermaphroditism definition: Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. [HPO:curators] ||| Denys-Drash syndrome definition: A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. ||| SF-1 definition: This gene plays a role in the regulation of transcription of steroid processing genes. ||| Output:

In contrast, WT1 missense mutations, associated with @@male pseudohermaphroditism## in @@Denys-Drash syndrome##, fail to synergize with SF-1.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: Additionally, the X-linked, candidate dosage-sensitive sex-reversal gene, Dax-1, antagonizes synergy between SF-1 and WT1, most likely through a direct interaction with SF-1. Useful knowledge : ||| X-linked definition: A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [HPO:curators] ||| dosage-sensitive sex-reversal gene definition: Human NR0B1 wild-type allele is located within Xp21.3-p21.2 and is approximately 5 kb in length. This allele, which encodes nuclear receptor subfamily 0 group B member 1 protein, is involved in the regulation of both transcription and receptor-mediated signal transduction. Mutations in the gene are associated with both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. A duplication part of the short arm of the X chromosome, which contains this gene, in XY individuals is linked to dosage-sensitive sex reversal. ||| Dax-1 definition: Human NR0B1 wild-type allele is located within Xp21.3-p21.2 and is approximately 5 kb in length. This allele, which encodes nuclear receptor subfamily 0 group B member 1 protein, is involved in the regulation of both transcription and receptor-mediated signal transduction. Mutations in the gene are associated with both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. A duplication part of the short arm of the X chromosome, which contains this gene, in XY individuals is linked to dosage-sensitive sex reversal. ||| synergy definition: None ||| SF-1 definition: This gene plays a role in the regulation of transcription of steroid processing genes. ||| WT1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| interaction definition: Process involving reciprocal response between two or more individuals. This includes the development of cooperation and competition, the influence of status and social roles, and the dynamics of group behavior, leadership, and conformity. Persistent social interaction between specific individuals leads to the formation of social relationships. ||| SF-1 definition: This gene plays a role in the regulation of transcription of steroid processing genes. ||| Output:

Additionally, the X-linked, candidate dosage-sensitive sex-reversal gene, Dax-1, antagonizes synergy between SF-1 and WT1, most likely through a direct interaction with SF-1.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 propose that WT1 and Dax-1 functionally oppose each other in testis development by modulating SF-1-mediated transactivation.. Useful knowledge : ||| WT1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| Dax-1 definition: Human NR0B1 wild-type allele is located within Xp21.3-p21.2 and is approximately 5 kb in length. This allele, which encodes nuclear receptor subfamily 0 group B member 1 protein, is involved in the regulation of both transcription and receptor-mediated signal transduction. Mutations in the gene are associated with both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. A duplication part of the short arm of the X chromosome, which contains this gene, in XY individuals is linked to dosage-sensitive sex reversal. ||| testis definition: The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS. ||| development definition: None ||| modulating definition: None ||| Output:

We propose that WT1 and Dax-1 functionally oppose each other in testis development by modulating SF-1-mediated transactivation..

The task is to label all mentions of diseases in a sentence, by 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: Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. Useful knowledge : ||| Ethnic differences definition: None ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| Output:

Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4. Useful knowledge : ||| studies definition: None ||| hereditary hemochromatosis definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| HH definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| homozygosity definition: An individual in which both alleles at a given locus are identical. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| HFE gene definition: This gene plays a role in the modulation of iron transport. ||| Output:

Recent studies have shown that @@hereditary hemochromatosis## (@@HH##) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HFE gene located 4.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 Mb telomeric to HLA-A. Useful knowledge : ||| Output:

5 Mb telomeric to HLA-A.

The task is to label all mentions of diseases in a sentence, by 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: Population studies of this polymorphism are facilitated by the fact that the Cys282Tyr mutation creates a Rsal restriction site. Useful knowledge : ||| Population studies definition: Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment. ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| 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. ||| Rsal restriction site definition: A sequence in DNA that can be recognized by a specific restriction enzyme. ||| Output:

Population studies of this polymorphism are facilitated by the fact that the Cys282Tyr mutation creates a Rsal restriction site.

The task is to label all mentions of diseases in a sentence, by 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 have studied the codon 282 (Cys/Tyr) polymorphism in different ethnic groups. Useful knowledge : ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| ethnic groups definition: a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. ||| Output:

We have studied the codon 282 (Cys/Tyr) polymorphism in different ethnic groups.

The task is to label all mentions of diseases in a sentence, by 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 agreement with previous observations the Tyr allele appeared to be rare or absent in Asiatic (Indian, Chinese) populations. Useful knowledge : ||| observations definition: The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions, with the purpose of applying the observed information to theoretical assumptions. Observation as a scientific method in the acquisition of knowledge began in classical antiquity; in modern science and medicine its greatest application is facilitated by modern technology. Observation is one of the components of the research process. ||| Tyr allele definition: Human TYR wild-type allele is located within 11q14-q21 and is approximately 118 kb in length. This allele, which encodes tyrosinase protein, plays a role in the multi-step biosynthesis of melanin from tyrosine. Allelic variants of the TYR gene cause three different types of oculocutaneous albinism. ||| rare definition: Not occurring regularly or at short intervals. ||| absent definition: Not existing in a specified place at a specified time. ||| Asiatic definition: A major population group distinguished by classification according to physical features. This group centers around the Asian Pacific Ocean. ||| Indian definition: A person having origins in the original peoples of the Indian sub-continent. ||| Chinese definition: A family of languages that originated in China. The major dialect is Mandarin. It is the official language of China and Taiwan. ||| populations definition: The total number of individuals inhabiting a particular region or area. ||| Output:

In agreement with previous observations the Tyr allele appeared to be rare or absent in Asiatic (Indian, Chinese) 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: The highest allele frequency (7. Useful knowledge : ||| highest definition: Approaching or constituting a maximum; the highest point (of something). ||| allele frequency definition: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. ||| Output:

The highest allele frequency (7.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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%) was found in Swedes. Useful knowledge : ||| Swedes definition: None ||| Output:

5%) was found in Swedes.

The task is to label all mentions of diseases in a sentence, by 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: Saamis (2%) and Mordvinians (1. Useful knowledge : ||| Output:

Saamis (2%) and Mordvinians (1.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: 8%) had significantly lower frequencies of the Tyr allele. Useful knowledge : ||| frequencies definition: The number of occurrences of something within a given time period. ||| Tyr allele definition: Human TYR wild-type allele is located within 11q14-q21 and is approximately 118 kb in length. This allele, which encodes tyrosinase protein, plays a role in the multi-step biosynthesis of melanin from tyrosine. Allelic variants of the TYR gene cause three different types of oculocutaneous albinism. ||| Output:

8%) had significantly lower frequencies of the Tyr allele.

The task is to label all mentions of diseases in a sentence, by 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: Comparisons with allele frequencies based on prevalence estimates of HH showed some disagreements with the RFLP data, particularly in Finns. Useful knowledge : ||| Comparisons definition: The examination of two or more people or things in order to detect similarities and differences. ||| allele frequencies definition: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. ||| prevalence definition: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time. ||| estimates definition: To calculate approximately. ||| HH definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| disagreements definition: Inconsistency or lack of agreement between data, facts, claims, or opinions. ||| RFLP definition: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. ||| data definition: A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn. ||| Finns definition: None ||| Output:

Comparisons with allele frequencies based on prevalence estimates of @@HH## showed some disagreements with the RFLP data, particularly in Finns.

The task is to label all mentions of diseases in a sentence, by 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 newly described HFE marker provides a new approach to the screening of HH as well as studies of the relationship between the HFE Tyr allele and different disorders including cancer Useful knowledge : ||| HFE definition: This gene plays a role in the modulation of iron transport. ||| marker definition: A visual indicator of position, place or route. ||| screening definition: Procedures performed on people to identify those who have NEOPLASMS or PRENEOPLASTIC CONDITIONS. ||| HH definition: An inherited metabolic disorder characterized by iron accumulation in the tissues. ||| studies definition: None ||| relationship definition: A state of connectedness between people, objects, or events; to be associated or connected with something. ||| HFE definition: This gene plays a role in the modulation of iron transport. ||| Tyr allele definition: Human TYR wild-type allele is located within 11q14-q21 and is approximately 118 kb in length. This allele, which encodes tyrosinase protein, plays a role in the multi-step biosynthesis of melanin from tyrosine. Allelic variants of the TYR gene cause three different types of oculocutaneous albinism. ||| disorders 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. ||| cancer definition: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. ||| Output:

The newly described HFE marker provides a new approach to the screening of @@HH## as well as studies of the relationship between the HFE Tyr allele and different disorders including @@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: Risk reversals in predictive testing for Huntington disease. Useful knowledge : ||| Huntington disease definition: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) ||| Output:

Risk reversals in predictive testing for @@Huntington 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: The first predictive testing for Huntington disease (HD) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for HD. Useful knowledge : ||| Huntington disease definition: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) ||| HD definition: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen. ||| analysis definition: None ||| polymorphic definition: The quality or state of being able to assume different forms. ||| DNA markers definition: None ||| estimate definition: To calculate approximately. ||| likelihood definition: The study of chance processes or the relative frequency characterizing a chance process. ||| inheriting definition: Transmitted through genes from parents to offspring. (genome.gov) ||| 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. ||| HD definition: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen. ||| Output:

The first predictive testing for @@Huntington disease## (@@HD##) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for @@HD##.

The task is to label all mentions of diseases in a sentence, by 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: Limits to accuracy included recombination between the DNA markers and the mutation, pedigree structure, and whether DNA samples were available from family members. Useful knowledge : ||| Limits definition: Restricted or in amount, size, or extent. ||| accuracy definition: The quality of nearness to the truth or the true value. ||| recombination definition: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses. ||| DNA markers definition: None ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| pedigree structure 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. ||| family members definition: Any of the individuals who are descended from a common progenitor, related by marriage or other legal tie, or by a feeling of closeness. ||| Output:

Limits to accuracy included recombination between the DNA markers and the mutation, pedigree structure, and whether DNA samples were available from family members.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 direct tests for the HD mutation, we have assessed the accuracy of results obtained by linkage approaches when requested to do so by the test individuals. Useful knowledge : ||| HD definition: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen. ||| 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. ||| assessed definition: The final result of a determination of the value, significance, or extent of. ||| accuracy definition: The quality of nearness to the truth or the true value. ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| test definition: Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| Output:

With direct tests for the @@HD## mutation, we have assessed the accuracy of results obtained by linkage approaches when requested to do so by the test individuals.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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: For six such individuals, there was significant disparity between the tests. Useful knowledge : ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| disparity definition: The difference between two images on the retina when looking at a visual stimulus. This occurs since the two retinas do not have the same view of the stimulus because of the location of our eyes. Thus the left eye does not get exactly the same view as the right eye. ||| tests definition: Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting. ||| Output:

For six such individuals, there was significant disparity between the tests.

The task is to label all mentions of diseases in a sentence, by 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: Three went from a decreased risk to an increased risk, while in another three the risk was decreased. Useful knowledge : ||| decreased definition: A subjective response indicating that something is or has decreased. ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| increased definition: None ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| risk definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome. ||| decreased definition: A subjective response indicating that something is or has decreased. ||| Output:

Three went from a decreased risk to an increased risk, while in another three the risk was decreased.

The task is to label all mentions of diseases in a sentence, by 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: Knowledge of the potential reasons for these changes in results and impact of these risk reversals on both patients and the counseling team can assist in the development of strategies for the prevention and, where necessary, management of a risk reversal in any predictive testing program.. Useful knowledge : ||| 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. ||| potential definition: The likelihood or possibility that a specific state or condition will exist or that an action will occur. ||| changes definition: The act of alteration or modification; changed or altered in form or character. ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| impact definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| counseling team definition: The giving of advice and assistance to individuals with educational or personal problems. ||| development definition: None ||| prevention 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. ||| management definition: Performing or possessing executive duties; acting as a supervisor or manager. ||| risk reversal definition: A change in something from one state to the opposite state. ||| Output:

Knowledge of the potential reasons for these changes in results and impact of these risk reversals on both patients and the counseling team can assist in the development of strategies for the prevention and, where necessary, management of a risk reversal in any predictive testing program..

The task is to label all mentions of diseases in a sentence, by 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: Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Useful knowledge : ||| Identification definition: A process by which an individual unconsciously endeavors to pattern himself after another. This process is also important in the development of the personality, particularly the superego or conscience, which is modeled largely on the behavior of adult significant others. ||| novel definition: Having no previous example or precedent or parallel; of a kind not seen before. ||| 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. ||| frequency definition: None ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| Korean definition: An East Asian language that originated in the Korean peninsula. It is the official language of South Korea and North Korea. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 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. ||| Output:

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with @@Wilson 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: Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Useful knowledge : ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| copper-transporting enzyme definition: P-type ATPases which transport copper ions across membranes in prokaryotic and eukaryotic cells. They possess a conserved CYSTEINE-HISTIDINE-SERINE (CPx) amino acid motif within their transmembrane helices that functions in cation translocation and catalytic activation, and an N-terminal copper-binding CxxC motif that regulates enzyme activity. They play essential roles in intracellular copper homeostasis through regulating the uptake, efflux and storage of copper ions, and in cuproprotein biosynthesis. ||| P-type ATPase definition: A highly conserved family of ATPases that facilitate the transport of lipids and cations across the plasma membrane. Structurally, they are elongated ALPHA-HELICES constituting five functionally distinct domains: three cytoplasmic domains A, N, and P which contain the catalytic sites, and two transmembrane domains. The N domain phosphorylates the P-domain at an invariant ASPARTATE residue, which, in turn, is dephosphorylated by the A domain. The phosphorylation and dephosphorylation cycles drive conformational changes in the protein between two states (E1 and E2), which allow the substrate to access the other side of the membrane. ||| ATP7B definition: This gene plays a role in ATPase-dependent copper export. ||| identified definition: The procedure of having an identity established. ||| Korean definition: An East Asian language that originated in the Korean peninsula. It is the official language of South Korea and North Korea. ||| Patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 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. ||| Output:

Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with @@Wilson 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: Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequency of 37. Useful knowledge : ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| enzyme definition: Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| allele frequency definition: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. ||| Output:

Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequency of 37.

The task is to label all mentions of diseases in a sentence, by 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%, which is considerably higher than those in other Asian populations. Useful knowledge : ||| Asian definition: A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent including, for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam (https://www.federalregister.gov/documents/1997/10/30/97-28653/revisions-to-the-standards-for-the-classification-of-federal-data-on-race-and-ethnicity). In the United States it is used for classification of federal government data on race and ethnicity. Race and ethnicity terms are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies. ||| populations definition: The total number of individuals inhabiting a particular region or area. ||| Output:

5%, which is considerably higher than those in other Asian 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: The novel single nucleotide deletion, 2304delC, was found in one patient. Useful knowledge : ||| single nucleotide deletion definition: The modification of an RNA molecule by removal of a single nucleotide. [GOC:cb, GOC:mah] ||| patient definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

The novel single nucleotide deletion, 2304delC, was found in one patient.

The task is to label all mentions of diseases in a sentence, by 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: Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP7B gene may be susceptible to gene rearrangements causing Wilson disease. Useful knowledge : ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| 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. ||| ATP7B gene definition: This gene plays a role in ATPase-dependent copper export. ||| susceptible definition: The constitutional or inborn state disposing to a disease, group of diseases, or metabolic or structural anomaly. ||| gene rearrangements definition: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. ||| 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. ||| Output:

Since a mutation at cDNA nucleotide 2302 (2302insC) had been previously described, this region of the ATP7B gene may be susceptible to gene rearrangements causing @@Wilson 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: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Useful knowledge : ||| Determination definition: The final judgment in a legal proceeding. ||| genomic structure definition: The structural elements that comprise a gene or transcription unit. Gene structures include the transcription initiation site, the protein coding sequences, intervening sequences, and the transcription termination or polyadenylation sites as well as the regulatory elements (enhancers, silencers, and the promoter) that lie outside the boundaries of the transcribed unit. ||| COL4A4 gene definition: None ||| novel definition: Having no previous example or precedent or parallel; of a kind not seen before. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| autosomal recessive definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:probinson] ||| Alport syndrome definition: A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. ||| Output:

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing @@autosomal recessive Alport syndrome##.

The task is to label all mentions of diseases in a sentence, by 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: Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. Useful knowledge : ||| Autosomal recessive definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:probinson] ||| Alport syndrome definition: A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. ||| progressive definition: Advancing in extent or severity. ||| hematuric glomerulonephritis definition: Inflammation of the renal glomeruli (KIDNEY GLOMERULUS) that can be classified by the type of glomerular injuries including antibody deposition, complement activation, cellular proliferation, and glomerulosclerosis. These structural and functional abnormalities usually lead to HEMATURIA; PROTEINURIA; HYPERTENSION; and RENAL INSUFFICIENCY. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| glomerular basement membrane abnormalities definition: None ||| associated with definition: Joined in some kind of relationship. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| COL4A3 definition: Collagen alpha-3(IV) chain (1670 aa, ~162 kDa) is encoded by the human COL4A3 gene. This protein plays a role in the formation of basement membranes. ||| COL4A4 gene definition: None ||| alpha3 definition: An integrin alpha subunit that occurs as alternatively spliced isoforms. The isoforms are differentially expressed in specific cell types and at specific developmental stages. Integrin alpha3 combines with INTEGRIN BETA1 to form INTEGRIN ALPHA3BETA1 which is a heterodimer found primarily in epithelial cells. ||| alpha4 type IV collagen chains definition: This gene plays a role in the formation of basement membrane collagen structures. ||| Output:

@@Autosomal recessive Alport syndrome## is a progressive @@hematuric glomerulonephritis## characterized by @@glomerular basement membrane abnormalities## and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively.

The task is to label all mentions of diseases in a sentence, by 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 date, mutation screening in the two genes has been hampered by the lack of genomic structure information. Useful knowledge : ||| mutation screening definition: Tests of chemical substances and physical agents for mutagenic potential. They include microbial, insect, mammalian cell, and whole animal tests. ||| 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. ||| lack definition: None ||| genomic structure definition: The structural elements that comprise a gene or transcription unit. Gene structures include the transcription initiation site, the protein coding sequences, intervening sequences, and the transcription termination or polyadenylation sites as well as the regulatory elements (enhancers, silencers, and the promoter) that lie outside the boundaries of the transcribed unit. ||| information definition: <p>Sender sends payload to addressee as information. Addressee does not have responsibilities beyond serving addressee's own interest (i.e., read and memorize if you see fit). This is equivalent to an FYI on a memo.</p> ||| Output:

To date, mutation screening in the two genes has been hampered by the lack of genomic structure information.

The task is to label all mentions of diseases in a sentence, by 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 here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene screen, and the subsequent detection of 10 novel mutations in eight patients diagnosed with autosomal recessive Alport syndrome. Useful knowledge : ||| characterization definition: The act of describing distinctive characteristics or essential features. ||| exons 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. ||| COL4A4 gene definition: None ||| comprehensive definition: Broad in scope; including all or everything. ||| gene screen definition: An electronic device designed as a display or a physical device designed to be a protective meshwork. ||| detection definition: The activity of perceiving, discerning, discovering or identifying. ||| novel definition: Having no previous example or precedent or parallel; of a kind not seen before. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| diagnosed definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| autosomal recessive definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:probinson] ||| Alport syndrome definition: A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. ||| Output:

We report here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene screen, and the subsequent detection of 10 novel mutations in eight patients diagnosed with @@autosomal recessive Alport syndrome##.

The task is to label all mentions of diseases in a sentence, by 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, we identified a glycine to alanine substitution in the collagenous domain that is apparently silent in the heterozygous carriers, in 11. Useful knowledge : ||| glycine definition: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. ||| alanine definition: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM. ||| substitution definition: <p>Definition: Indicates that the subject Act has undergone or should undergo substitution of a type indicated by Act.code.</p><p>Rationale: Used to specify "allowed" substitution when creating orders, "actual" susbstitution when sending events, as well as the reason for the substitution and who was responsible for it.</p> ||| silent definition: None ||| heterozygous definition: An individual having different alleles at one or more loci regarding a specific character. ||| carriers definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| Output:

Furthermore, we identified a glycine to alanine substitution in the collagenous domain that is apparently silent in the heterozygous carriers, in 11.

The task is to label all mentions of diseases in a sentence, by 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% of all control individuals, and in one control individual homozygous for this glycine substitution. Useful knowledge : ||| control definition: Groups that serve as a standard for comparison in experimental studies. They are similar in relevant characteristics to the experimental group but do not receive the experimental intervention. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| individual definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| glycine definition: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. ||| substitution definition: <p>Definition: Indicates that the subject Act has undergone or should undergo substitution of a type indicated by Act.code.</p><p>Rationale: Used to specify "allowed" substitution when creating orders, "actual" susbstitution when sending events, as well as the reason for the substitution and who was responsible for it.</p> ||| Output:

5% of all control individuals, and in one control individual homozygous for this glycine substitution.

The task is to label all mentions of diseases in a sentence, by 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: There has been no previous finding of a glycine substitution that is not associated with any obvious phenotype in homozygous individuals. Useful knowledge : ||| glycine definition: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. ||| substitution definition: <p>Definition: Indicates that the subject Act has undergone or should undergo substitution of a type indicated by Act.code.</p><p>Rationale: Used to specify "allowed" substitution when creating orders, "actual" susbstitution when sending events, as well as the reason for the substitution and who was responsible for it.</p> ||| associated with definition: Joined in some kind of relationship. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| Output:

There has been no previous finding of a glycine substitution that is not associated with any obvious phenotype in homozygous individuals.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Useful knowledge : ||| 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 ||| transmembrane protein definition: A protein that is an integral membrane protein with a transmembrane region. ||| mutated definition: Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| diabetes mellitus definition: A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. ||| optic atrophy definition: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition. ||| Wolfram syndrome definition: A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. ||| Output:

A gene encoding a transmembrane protein is mutated in patients with @@diabetes mellitus## and @@optic atrophy## (@@Wolfram syndrome##).

The task is to label all mentions of diseases in a sentence, by 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: Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Useful knowledge : ||| Wolfram syndrome definition: A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. ||| WFS definition: A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. ||| autosomal recessive definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:probinson] ||| young-onset definition: A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact aetiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. ||| diabetes mellitus definition: A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. ||| progressive definition: Advancing in extent or severity. ||| optic atrophy definition: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition. ||| Output:

@@Wolfram syndrome## (@@WFS##; OMIM 222300) is an @@autosomal recessive neurodegenerative disorder## defined by young-onset non-immune @@insulin-dependent diabetes mellitus## and progressive @@optic atrophy##.

The task is to label all mentions of diseases in a sentence, by 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: Linkage to markers on chromosome 4p was confirmed in five families. Useful knowledge : ||| Linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| markers definition: A medical device designed to mark an anatomic location. ||| chromosome 4p definition: A cytogenic abnormality that refers to loss of all or part of the short arm of chromosome 4 (4p). ||| families definition: A social group consisting of parents or parent substitutes and children. ||| Output:

Linkage to markers on chromosome 4p was confirmed in five families.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. 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 meiotic recombinants and disease-associated haplotypes, the WFS gene was localized to a BAC/P1 contig of less than 250 kb. Useful knowledge : ||| meiotic recombinants definition: The cell cycle process in which double strand breaks are formed and repaired through a single or double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity. [PMID:2087779] ||| localized definition: Being confined or restricted to a particular location. [HPO:probinson] ||| Output:

On the basis of meiotic recombinants and disease-associated haplotypes, the @@WFS## gene was localized to a BAC/P1 contig of less than 250 kb.

The task is to label all mentions of diseases in a sentence, by 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 a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype. 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. ||| 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. ||| WFS1 definition: None ||| encoding definition: None ||| putative transmembrane protein definition: BMP and activin membrane-bound inhibitor homolog (260 aa, ~29 kDa) is encoded by the human BAMBI gene. This protein is involved in the inhibition of transforming growth factor-beta family-dependent signaling. ||| affected definition: To be influenced by or changed. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| WFS definition: A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| 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. ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six @@WFS## families, and these mutations were associated with the disease 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: WFS1 appears to function in survival of islet beta-cells and neurons.. Useful knowledge : ||| WFS1 definition: None ||| function definition: Used with organs, tissues, and cells of unicellular and multicellular organisms for normal function. It is used also with biochemical substances, endogenously produced, for their physiologic role. ||| survival definition: Continuance of life or existence especially under adverse conditions; includes methods and philosophy of survival. ||| islet definition: Irregular microscopic structures consisting of cords of endocrine cells that are scattered throughout the PANCREAS among the exocrine acini. Each islet is surrounded by connective tissue fibers and penetrated by a network of capillaries. There are four major cell types. The most abundant beta cells (50-80%) secrete INSULIN. Alpha cells (5-20%) secrete GLUCAGON. PP cells (10-35%) secrete PANCREATIC POLYPEPTIDE. Delta cells (~5%) secrete SOMATOSTATIN. ||| beta-cells definition: Betacellulin (80 aa, ~9 kDa) is encoded by the human BTC gene. This protein is involved in epidermal growth factor receptor family signaling pathways. ||| neurons definition: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM. ||| Output:

WFS1 appears to function in survival of islet beta-cells and neurons..

The task is to label all mentions of diseases in a sentence, by 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 defects leading to human complement component C6 deficiency in an African-American family. Useful knowledge : ||| human definition: Members of the species Homo sapiens. ||| complement component definition: None ||| C6 deficiency definition: None ||| African-American family definition: Denotes a person of African ancestral origins whose family settled in America. ||| Output:

Molecular defects leading to human @@complement component C6 deficiency## in an African-American family.

The task is to label all mentions of diseases in a sentence, by 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: Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. Useful knowledge : ||| Complement component C6 deficiency definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| C6D definition: None ||| diagnosed definition: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. ||| African-American definition: Denotes a person of African ancestral origins whose family settled in America. ||| 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. ||| meningococcal meningitis definition: A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8) ||| Output:

@@Complement component C6 deficiency## (@@C6D##) was diagnosed in a 16-year-old African-American male with @@meningococcal meningitis##.