PubMed:10484772 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":187,"end":203},"obj":"HP_0000479"},{"id":"T2","span":{"begin":187,"end":203},"obj":"HP_0007901"},{"id":"T3","span":{"begin":187,"end":212},"obj":"HP_0007797"},{"id":"T4","span":{"begin":245,"end":259},"obj":"HP_0001009"},{"id":"T5","span":{"begin":335,"end":363},"obj":"HP_0012231"},{"id":"T6","span":{"begin":335,"end":352},"obj":"HP_0001146"},{"id":"T7","span":{"begin":335,"end":352},"obj":"HP_0001147"},{"id":"T8","span":{"begin":345,"end":363},"obj":"HP_0000541"},{"id":"T9","span":{"begin":754,"end":770},"obj":"HP_0001428"},{"id":"T10","span":{"begin":859,"end":873},"obj":"HP_0001009"},{"id":"T11","span":{"begin":890,"end":906},"obj":"HP_0001428"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10484772-0#99#102#gene4693","span":{"begin":99,"end":102},"obj":"gene4693"},{"id":"10484772-0#41#63#diseaseC0154832","span":{"begin":41,"end":63},"obj":"diseaseC0154832"},{"id":"10484772-6#78#81#gene4693","span":{"begin":914,"end":917},"obj":"gene4693"},{"id":"10484772-6#155#158#gene4693","span":{"begin":991,"end":994},"obj":"gene4693"},{"id":"10484772-6#23#37#diseaseC0039446","span":{"begin":859,"end":873},"obj":"diseaseC0039446"}],"relations":[{"id":"99#102#gene469341#63#diseaseC0154832","pred":"associated_with","subj":"10484772-0#99#102#gene4693","obj":"10484772-0#41#63#diseaseC0154832"},{"id":"78#81#gene469323#37#diseaseC0039446","pred":"associated_with","subj":"10484772-6#78#81#gene4693","obj":"10484772-6#23#37#diseaseC0039446"},{"id":"155#158#gene469323#37#diseaseC0039446","pred":"associated_with","subj":"10484772-6#155#158#gene4693","obj":"10484772-6#23#37#diseaseC0039446"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":828,"end":834},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":22,"end":28},"obj":"http://purl.obolibrary.org/obo/UBERON_0000966"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":669,"end":676},"obj":"http://purl.obolibrary.org/obo/UBERON_0000966"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":1023,"end":1029},"obj":"http://purl.obolibrary.org/obo/UBERON_0000966"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":335,"end":344},"obj":"http://purl.obolibrary.org/obo/UBERON_0007780"},{"id":"PD-UBERON-AE-B_T6","span":{"begin":696,"end":700},"obj":"http://purl.obolibrary.org/obo/UBERON_0000970"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":335,"end":363},"obj":"HP:0012231"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":151},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":152,"end":365},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":366,"end":463},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":464,"end":564},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":565,"end":639},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":640,"end":835},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":836,"end":1030},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1031,"end":1128},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":151},"obj":"Sentence"},{"id":"T2","span":{"begin":152,"end":365},"obj":"Sentence"},{"id":"T3","span":{"begin":366,"end":463},"obj":"Sentence"},{"id":"T4","span":{"begin":464,"end":564},"obj":"Sentence"},{"id":"T5","span":{"begin":565,"end":639},"obj":"Sentence"},{"id":"T6","span":{"begin":640,"end":835},"obj":"Sentence"},{"id":"T7","span":{"begin":836,"end":1030},"obj":"Sentence"},{"id":"T8","span":{"begin":1031,"end":1128},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":0,"end":14},"obj":"ORDO:190"},{"id":"AB1","span":{"begin":388,"end":402},"obj":"ORDO:190"},{"id":"AB2","span":{"begin":502,"end":516},"obj":"ORDO:190"},{"id":"AB3","span":{"begin":549,"end":563},"obj":"ORDO:649"},{"id":"AB4","span":{"begin":717,"end":731},"obj":"ORDO:190"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":22,"end":28},"obj":"http://purl.obolibrary.org/obo/UBERON_0000966"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":1023,"end":1029},"obj":"http://purl.obolibrary.org/obo/UBERON_0000966"},{"id":"PD-UBERON-AE-B_T3","span":{"begin":335,"end":344},"obj":"http://purl.obolibrary.org/obo/UBERON_0007780"},{"id":"PD-UBERON-AE-B_T4","span":{"begin":696,"end":700},"obj":"http://purl.obolibrary.org/obo/UBERON_0000970"},{"id":"PD-UBERON-AE-B_T5","span":{"begin":828,"end":834},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":0,"end":14},"obj":"SpecificDisease:D058456"},{"id":"T2","span":{"begin":30,"end":63},"obj":"SpecificDisease:D058456"},{"id":"T3","span":{"begin":152,"end":166},"obj":"SpecificDisease:D058456"},{"id":"T4","span":{"begin":187,"end":224},"obj":"DiseaseClass:D058456"},{"id":"T5","span":{"begin":237,"end":259},"obj":"SpecificDisease:D058456"},{"id":"T6","span":{"begin":287,"end":333},"obj":"CompositeMention:D006949"},{"id":"T7","span":{"begin":335,"end":363},"obj":"DiseaseClass:D012163"},{"id":"T8","span":{"begin":388,"end":402},"obj":"SpecificDisease:D058456"},{"id":"T9","span":{"begin":502,"end":516},"obj":"SpecificDisease:D058456"},{"id":"T10","span":{"begin":549,"end":563},"obj":"SpecificDisease:C537849"},{"id":"T11","span":{"begin":717,"end":731},"obj":"SpecificDisease:D058456"},{"id":"T12","span":{"begin":852,"end":873},"obj":"SpecificDisease:D058456"},{"id":"T13","span":{"begin":942,"end":962},"obj":"DiseaseClass:C537849"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":99,"end":102},"obj":"gene:4693"},{"id":"T1","span":{"begin":41,"end":63},"obj":"disease:C0154832"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T1780","span":{"begin":0,"end":14},"obj":"SpecificDisease"},{"id":"T1781","span":{"begin":30,"end":63},"obj":"SpecificDisease"},{"id":"T1782","span":{"begin":152,"end":166},"obj":"SpecificDisease"},{"id":"T1783","span":{"begin":187,"end":224},"obj":"DiseaseClass"},{"id":"T1784","span":{"begin":237,"end":259},"obj":"SpecificDisease"},{"id":"T1785","span":{"begin":287,"end":333},"obj":"CompositeMention"},{"id":"T1786","span":{"begin":335,"end":363},"obj":"DiseaseClass"},{"id":"T1787","span":{"begin":388,"end":402},"obj":"SpecificDisease"},{"id":"T1788","span":{"begin":502,"end":516},"obj":"SpecificDisease"},{"id":"T1789","span":{"begin":549,"end":563},"obj":"SpecificDisease"},{"id":"T1790","span":{"begin":717,"end":731},"obj":"SpecificDisease"},{"id":"T1791","span":{"begin":852,"end":873},"obj":"SpecificDisease"},{"id":"T1792","span":{"begin":942,"end":962},"obj":"DiseaseClass"}],"attributes":[{"id":"A1780","pred":"database_id","subj":"T1780","obj":"D058456"},{"id":"A1781","pred":"database_id","subj":"T1781","obj":"D058456"},{"id":"A1782","pred":"database_id","subj":"T1782","obj":"D058456"},{"id":"A1783","pred":"database_id","subj":"T1783","obj":"D058456"},{"id":"A1784","pred":"database_id","subj":"T1784","obj":"D058456"},{"id":"A1785","pred":"database_id","subj":"T1785","obj":"D006949"},{"id":"A1786","pred":"database_id","subj":"T1786","obj":"D012163"},{"id":"A1787","pred":"database_id","subj":"T1787","obj":"D058456"},{"id":"A1788","pred":"database_id","subj":"T1788","obj":"D058456"},{"id":"A1789","pred":"database_id","subj":"T1789","obj":"C537849"},{"id":"A1790","pred":"database_id","subj":"T1790","obj":"D058456"},{"id":"A1791","pred":"database_id","subj":"T1791","obj":"D058456"},{"id":"A1792","pred":"database_id","subj":"T1792","obj":"C537849"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T1780","span":{"begin":0,"end":14},"obj":"SpecificDisease"},{"id":"T1781","span":{"begin":30,"end":63},"obj":"SpecificDisease"},{"id":"T1782","span":{"begin":152,"end":166},"obj":"SpecificDisease"},{"id":"T1783","span":{"begin":187,"end":224},"obj":"DiseaseClass"},{"id":"T1784","span":{"begin":237,"end":259},"obj":"SpecificDisease"},{"id":"T1785","span":{"begin":287,"end":333},"obj":"CompositeMention"},{"id":"T1786","span":{"begin":335,"end":363},"obj":"DiseaseClass"},{"id":"T1787","span":{"begin":388,"end":402},"obj":"SpecificDisease"},{"id":"T1788","span":{"begin":502,"end":516},"obj":"SpecificDisease"},{"id":"T1789","span":{"begin":549,"end":563},"obj":"SpecificDisease"},{"id":"T1790","span":{"begin":717,"end":731},"obj":"SpecificDisease"},{"id":"T1791","span":{"begin":852,"end":873},"obj":"SpecificDisease"},{"id":"T1792","span":{"begin":942,"end":962},"obj":"DiseaseClass"}],"attributes":[{"id":"A1780","pred":"database_id","subj":"T1780","obj":"D058456"},{"id":"A1781","pred":"database_id","subj":"T1781","obj":"D058456"},{"id":"A1782","pred":"database_id","subj":"T1782","obj":"D058456"},{"id":"A1783","pred":"database_id","subj":"T1783","obj":"D058456"},{"id":"A1784","pred":"database_id","subj":"T1784","obj":"D058456"},{"id":"A1785","pred":"database_id","subj":"T1785","obj":"D006949"},{"id":"A1786","pred":"database_id","subj":"T1786","obj":"D012163"},{"id":"A1787","pred":"database_id","subj":"T1787","obj":"D058456"},{"id":"A1788","pred":"database_id","subj":"T1788","obj":"D058456"},{"id":"A1789","pred":"database_id","subj":"T1789","obj":"C537849"},{"id":"A1790","pred":"database_id","subj":"T1790","obj":"D058456"},{"id":"A1791","pred":"database_id","subj":"T1791","obj":"D058456"},{"id":"A1792","pred":"database_id","subj":"T1792","obj":"C537849"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":7,"end":14},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":49,"end":63},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":159,"end":166},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":245,"end":259},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":395,"end":402},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":509,"end":516},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":549,"end":563},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":724,"end":731},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":859,"end":873},"obj":"DiseaseClass"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":0,"end":14},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":152,"end":166},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":388,"end":402},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":502,"end":516},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":549,"end":563},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":717,"end":731},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":852,"end":873},"obj":"SpecificDisease"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":7,"end":14},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":22,"end":28},"obj":"Modifier"},{"id":"T3","span":{"begin":41,"end":63},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":152,"end":166},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":237,"end":259},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":345,"end":363},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":388,"end":402},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":502,"end":516},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":549,"end":563},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":717,"end":731},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":852,"end":873},"obj":"SpecificDisease"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":0,"end":14},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":49,"end":63},"obj":"Modifier"},{"id":"T3","span":{"begin":152,"end":166},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":245,"end":259},"obj":"Modifier"},{"id":"T5","span":{"begin":335,"end":363},"obj":"Modifier"},{"id":"T6","span":{"begin":388,"end":402},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":502,"end":516},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":549,"end":563},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":717,"end":731},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":852,"end":873},"obj":"CompositeMention"}],"text":"Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.\nCoats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis."}