PubMed:10607954 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":133,"end":159},"obj":"HP_0000655"},{"id":"T2","span":{"begin":161,"end":172},"obj":"HP_0011003"},{"id":"T3","span":{"begin":166,"end":172},"obj":"HP_0000545"},{"id":"T4","span":{"begin":174,"end":182},"obj":"HP_0000518"},{"id":"T5","span":{"begin":184,"end":195},"obj":"HP_0000506"},{"id":"T6","span":{"begin":197,"end":210},"obj":"HP_0000316"},{"id":"T7","span":{"begin":218,"end":236},"obj":"HP_0000218"},{"id":"T8","span":{"begin":283,"end":305},"obj":"HP_0007385"},{"id":"T9","span":{"begin":283,"end":305},"obj":"HP_0001965"},{"id":"T10","span":{"begin":294,"end":325},"obj":"HP_0430000"},{"id":"T11","span":{"begin":294,"end":320},"obj":"HP_0010245"},{"id":"T12","span":{"begin":313,"end":325},"obj":"HP_0005466"},{"id":"T13","span":{"begin":638,"end":651},"obj":"HP_0007385"},{"id":"T14","span":{"begin":638,"end":651},"obj":"HP_0001965"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":588,"end":595},"obj":"http://purl.obolibrary.org/obo/UBERON_0012131"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":588,"end":610},"obj":"http://purl.obolibrary.org/obo/UBERON_0001017"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":596,"end":610},"obj":"http://purl.obolibrary.org/obo/UBERON_0001016"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":380,"end":385},"obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":36,"end":41},"obj":"http://purl.obolibrary.org/obo/UBERON_0000403"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":283,"end":288},"obj":"http://purl.obolibrary.org/obo/UBERON_0000403"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":638,"end":643},"obj":"http://purl.obolibrary.org/obo/UBERON_0000403"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":133,"end":159},"obj":"HP:0000655"},{"id":"AB2","span":{"begin":166,"end":172},"obj":"HP:0000545"},{"id":"AB3","span":{"begin":174,"end":182},"obj":"HP:0000518"},{"id":"AB4","span":{"begin":184,"end":195},"obj":"HP:0000506"},{"id":"AB5","span":{"begin":197,"end":210},"obj":"HP:0000316"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":0,"end":17},"obj":"ORDO:1571"},{"id":"AB1","span":{"begin":107,"end":124},"obj":"ORDO:1571"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":36,"end":41},"obj":"http://purl.obolibrary.org/obo/UBERON_0000403"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":283,"end":288},"obj":"http://purl.obolibrary.org/obo/UBERON_0000403"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":638,"end":643},"obj":"http://purl.obolibrary.org/obo/UBERON_0000403"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":380,"end":385},"obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":588,"end":595},"obj":"http://purl.obolibrary.org/obo/UBERON_0012131"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":588,"end":610},"obj":"http://purl.obolibrary.org/obo/UBERON_0001017"},{"id":"PD-UBERON-AE-B_T7","span":{"begin":596,"end":610},"obj":"http://purl.obolibrary.org/obo/UBERON_0001016"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":71},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":72,"end":125},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":126,"end":237},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":238,"end":375},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":376,"end":439},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":440,"end":505},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":506,"end":664},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":71},"obj":"Sentence"},{"id":"T2","span":{"begin":72,"end":125},"obj":"Sentence"},{"id":"T3","span":{"begin":126,"end":237},"obj":"Sentence"},{"id":"T4","span":{"begin":238,"end":375},"obj":"Sentence"},{"id":"T5","span":{"begin":376,"end":439},"obj":"Sentence"},{"id":"T6","span":{"begin":440,"end":505},"obj":"Sentence"},{"id":"T7","span":{"begin":506,"end":664},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":0,"end":17},"obj":"SpecificDisease:C537209"},{"id":"T2","span":{"begin":28,"end":70},"obj":"DiseaseClass:C538225"},{"id":"T3","span":{"begin":107,"end":124},"obj":"SpecificDisease:C537209"},{"id":"T4","span":{"begin":133,"end":159},"obj":"SpecificDisease:D012162"},{"id":"T5","span":{"begin":161,"end":172},"obj":"SpecificDisease:D009216"},{"id":"T6","span":{"begin":174,"end":182},"obj":"SpecificDisease:D002386"},{"id":"T7","span":{"begin":184,"end":195},"obj":"SpecificDisease:D030342"},{"id":"T8","span":{"begin":197,"end":210},"obj":"SpecificDisease:D006972"},{"id":"T9","span":{"begin":218,"end":236},"obj":"SpecificDisease:D007569"},{"id":"T10","span":{"begin":252,"end":288},"obj":"DiseaseClass:C538225"},{"id":"T11","span":{"begin":630,"end":651},"obj":"DiseaseClass:C538225"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T843","span":{"begin":0,"end":17},"obj":"SpecificDisease"},{"id":"T844","span":{"begin":28,"end":70},"obj":"DiseaseClass"},{"id":"T845","span":{"begin":107,"end":124},"obj":"SpecificDisease"},{"id":"T846","span":{"begin":133,"end":159},"obj":"SpecificDisease"},{"id":"T847","span":{"begin":161,"end":172},"obj":"SpecificDisease"},{"id":"T848","span":{"begin":174,"end":182},"obj":"SpecificDisease"},{"id":"T849","span":{"begin":184,"end":195},"obj":"SpecificDisease"},{"id":"T850","span":{"begin":197,"end":210},"obj":"SpecificDisease"},{"id":"T851","span":{"begin":218,"end":236},"obj":"SpecificDisease"},{"id":"T852","span":{"begin":252,"end":288},"obj":"DiseaseClass"},{"id":"T853","span":{"begin":630,"end":651},"obj":"DiseaseClass"}],"attributes":[{"id":"A843","pred":"database_id","subj":"T843","obj":"C537209"},{"id":"A844","pred":"database_id","subj":"T844","obj":"C538225"},{"id":"A845","pred":"database_id","subj":"T845","obj":"C537209"},{"id":"A846","pred":"database_id","subj":"T846","obj":"D012162"},{"id":"A847","pred":"database_id","subj":"T847","obj":"D009216"},{"id":"A848","pred":"database_id","subj":"T848","obj":"D002386"},{"id":"A849","pred":"database_id","subj":"T849","obj":"D030342"},{"id":"A850","pred":"database_id","subj":"T850","obj":"D006972"},{"id":"A851","pred":"database_id","subj":"T851","obj":"D007569"},{"id":"A852","pred":"database_id","subj":"T852","obj":"C538225"},{"id":"A853","pred":"database_id","subj":"T853","obj":"C538225"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T843","span":{"begin":0,"end":17},"obj":"SpecificDisease"},{"id":"T844","span":{"begin":28,"end":70},"obj":"DiseaseClass"},{"id":"T845","span":{"begin":107,"end":124},"obj":"SpecificDisease"},{"id":"T846","span":{"begin":133,"end":159},"obj":"SpecificDisease"},{"id":"T847","span":{"begin":161,"end":172},"obj":"SpecificDisease"},{"id":"T848","span":{"begin":174,"end":182},"obj":"SpecificDisease"},{"id":"T849","span":{"begin":184,"end":195},"obj":"SpecificDisease"},{"id":"T850","span":{"begin":197,"end":210},"obj":"SpecificDisease"},{"id":"T851","span":{"begin":218,"end":236},"obj":"SpecificDisease"},{"id":"T852","span":{"begin":252,"end":288},"obj":"DiseaseClass"},{"id":"T853","span":{"begin":630,"end":651},"obj":"DiseaseClass"}],"attributes":[{"id":"A843","pred":"database_id","subj":"T843","obj":"C537209"},{"id":"A844","pred":"database_id","subj":"T844","obj":"C538225"},{"id":"A845","pred":"database_id","subj":"T845","obj":"C537209"},{"id":"A846","pred":"database_id","subj":"T846","obj":"D012162"},{"id":"A847","pred":"database_id","subj":"T847","obj":"D009216"},{"id":"A848","pred":"database_id","subj":"T848","obj":"D002386"},{"id":"A849","pred":"database_id","subj":"T849","obj":"D030342"},{"id":"A850","pred":"database_id","subj":"T850","obj":"D006972"},{"id":"A851","pred":"database_id","subj":"T851","obj":"D007569"},{"id":"A852","pred":"database_id","subj":"T852","obj":"C538225"},{"id":"A853","pred":"database_id","subj":"T853","obj":"C538225"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":9,"end":17},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":116,"end":124},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":133,"end":159},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":161,"end":172},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":174,"end":182},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":496,"end":504},"obj":"SpecificDisease"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":9,"end":17},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":116,"end":124},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":496,"end":504},"obj":"SpecificDisease"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":0,"end":17},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":107,"end":124},"obj":"SpecificDisease"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":0,"end":17},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":28,"end":48},"obj":"Modifier"},{"id":"T3","span":{"begin":56,"end":70},"obj":"Modifier"},{"id":"T4","span":{"begin":107,"end":124},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":133,"end":159},"obj":"CompositeMention"},{"id":"T6","span":{"begin":161,"end":172},"obj":"Modifier"},{"id":"T7","span":{"begin":174,"end":182},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":184,"end":195},"obj":"Modifier"},{"id":"T9","span":{"begin":197,"end":210},"obj":"Modifier"},{"id":"T10","span":{"begin":218,"end":236},"obj":"Modifier"},{"id":"T11","span":{"begin":266,"end":288},"obj":"Modifier"},{"id":"T12","span":{"begin":313,"end":325},"obj":"Modifier"},{"id":"T13","span":{"begin":496,"end":504},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":630,"end":651},"obj":"Modifier"}],"text":"Knobloch syndrome involving midline scalp defect of the frontal region.\nWe report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present."}