> top > docs > PubMed:10842298 > annotations

PubMed:10842298 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-164 Sentence denotes Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
TextSentencer_T2 165-362 Sentence denotes A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent.
TextSentencer_T3 363-431 Sentence denotes Hypotonia, chorioretinal dystrophy, and myopia were also identified.
TextSentencer_T4 432-504 Sentence denotes The severity of the condition varied among the closely related patients.
TextSentencer_T5 505-728 Sentence denotes Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.
TextSentencer_T6 729-889 Sentence denotes Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514.
TextSentencer_T7 890-979 Sentence denotes The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00).
TextSentencer_T8 980-1113 Sentence denotes Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997:
TextSentencer_T9 1114-1142 Sentence denotes Euro J Hum Genet 5:206-213].
TextSentencer_T10 1143-1294 Sentence denotes This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype.
T1 0-164 Sentence denotes Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
T2 165-362 Sentence denotes A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent.
T3 363-431 Sentence denotes Hypotonia, chorioretinal dystrophy, and myopia were also identified.
T4 432-504 Sentence denotes The severity of the condition varied among the closely related patients.
T5 505-728 Sentence denotes Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.
T6 729-889 Sentence denotes Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514.
T7 890-979 Sentence denotes The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00).
T8 980-1113 Sentence denotes Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997:
T9 1114-1142 Sentence denotes Euro J Hum Genet 5:206-213].
T10 1143-1294 Sentence denotes This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 179-191 HP_0000252 denotes microcephaly
T2 205-232 HP_0008897 denotes postnatal growth deficiency
T3 215-232 HP_0001510 denotes growth deficiency
T4 238-256 HP_0001249 denotes mental retardation
T5 363-372 HP_0001252 denotes Hypotonia
T6 374-397 HP_0001135 denotes chorioretinal dystrophy
T7 403-409 HP_0000545 denotes myopia
T8 529-547 HP_0001999 denotes distinctive facial
T9 574-592 HP_0001249 denotes mental retardation
T10 598-611 HP_0004322 denotes short stature

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 179-191 HP:0000252 denotes microcephaly
TI1 38-50 HP:0000252 denotes microcephaly
TI2 76-89 HP:0004322 denotes short stature
AB2 374-397 HP:0001135 denotes chorioretinal dystrophy
AB3 403-409 HP:0000545 denotes myopia
AB4 598-611 HP:0004322 denotes short stature

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 95-109 ORDO:193 denotes Cohen syndrome
AB1 660-674 ORDO:193 denotes Cohen syndrome
AB2 1065-1079 ORDO:193 denotes Cohen syndrome
AB3 1234-1248 ORDO:193 denotes Cohen syndrome

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 38-50 DiseaseClass:D008831 denotes microcephaly
T2 52-70 DiseaseClass:D008607 denotes mental retardation
T3 76-89 DiseaseClass:D006130 denotes short stature
T4 95-109 Modifier:C536438 denotes Cohen syndrome
T5 179-191 DiseaseClass:D008831 denotes microcephaly
T6 205-232 DiseaseClass:D006130 denotes postnatal growth deficiency
T7 238-256 DiseaseClass:D008607 denotes mental retardation
T8 363-372 DiseaseClass:D009123 denotes Hypotonia
T9 374-397 DiseaseClass: D015862+D058499 denotes chorioretinal dystrophy
T10 403-409 DiseaseClass:D009216 denotes myopia
T11 574-592 DiseaseClass:D008607 denotes mental retardation
T12 598-611 DiseaseClass:D006130 denotes short stature
T13 660-674 SpecificDisease:C536438 denotes Cohen syndrome
T14 1065-1079 SpecificDisease:C536438 denotes Cohen syndrome
T15 1234-1248 SpecificDisease:C536438 denotes Cohen syndrome

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T2446 38-50 DiseaseClass denotes microcephaly D008831
T2447 52-70 DiseaseClass denotes mental retardation D008607
T2448 76-89 DiseaseClass denotes short stature D006130
T2449 95-109 Modifier denotes Cohen syndrome C536438
T2450 179-191 DiseaseClass denotes microcephaly D008831
T2451 205-232 DiseaseClass denotes postnatal growth deficiency D006130
T2452 238-256 DiseaseClass denotes mental retardation D008607
T2453 363-372 DiseaseClass denotes Hypotonia D009123
T2454 374-397 DiseaseClass denotes chorioretinal dystrophy D015862+D058499
T2455 403-409 DiseaseClass denotes myopia D009216
T2456 574-592 DiseaseClass denotes mental retardation D008607
T2457 598-611 DiseaseClass denotes short stature D006130
T2458 660-674 SpecificDisease denotes Cohen syndrome C536438
T2459 1065-1079 SpecificDisease denotes Cohen syndrome C536438
T2460 1234-1248 SpecificDisease denotes Cohen syndrome C536438

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T2446 38-50 DiseaseClass denotes microcephaly D008831
T2447 52-70 DiseaseClass denotes mental retardation D008607
T2448 76-89 DiseaseClass denotes short stature D006130
T2449 95-109 Modifier denotes Cohen syndrome C536438
T2450 179-191 DiseaseClass denotes microcephaly D008831
T2451 205-232 DiseaseClass denotes postnatal growth deficiency D006130
T2452 238-256 DiseaseClass denotes mental retardation D008607
T2453 363-372 DiseaseClass denotes Hypotonia D009123
T2454 374-397 DiseaseClass denotes chorioretinal dystrophy D015862+D058499
T2455 403-409 DiseaseClass denotes myopia D009216
T2456 574-592 DiseaseClass denotes mental retardation D008607
T2457 598-611 DiseaseClass denotes short stature D006130
T2458 660-674 SpecificDisease denotes Cohen syndrome C536438
T2459 1065-1079 SpecificDisease denotes Cohen syndrome C536438
T2460 1234-1248 SpecificDisease denotes Cohen syndrome C536438

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 38-50 SpecificDisease denotes microcephaly
T2 52-70 SpecificDisease denotes mental retardation
T3 76-89 SpecificDisease denotes short stature
T4 95-109 SpecificDisease denotes Cohen syndrome
T5 179-256 CompositeMention denotes microcephaly, progressive postnatal growth deficiency, and mental retardation
T6 374-397 SpecificDisease denotes chorioretinal dystrophy
T7 574-592 SpecificDisease denotes mental retardation
T8 598-611 SpecificDisease denotes short stature
T9 660-674 SpecificDisease denotes Cohen syndrome
T10 1065-1079 SpecificDisease denotes Cohen syndrome
T11 1234-1248 SpecificDisease denotes Cohen syndrome

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 38-50 DiseaseClass denotes microcephaly
T2 52-70 DiseaseClass denotes mental retardation
T3 76-89 DiseaseClass denotes short stature
T4 95-109 SpecificDisease denotes Cohen syndrome
T5 179-191 DiseaseClass denotes microcephaly
T6 238-256 DiseaseClass denotes mental retardation
T7 374-397 SpecificDisease denotes chorioretinal dystrophy
T8 403-409 SpecificDisease denotes myopia
T9 574-592 DiseaseClass denotes mental retardation
T10 598-611 DiseaseClass denotes short stature
T11 660-674 SpecificDisease denotes Cohen syndrome
T12 1065-1079 SpecificDisease denotes Cohen syndrome
T13 1234-1248 SpecificDisease denotes Cohen syndrome

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 38-50 DiseaseClass denotes microcephaly
T2 52-70 DiseaseClass denotes mental retardation
T3 76-89 DiseaseClass denotes short stature
T4 95-109 SpecificDisease denotes Cohen syndrome
T5 179-191 DiseaseClass denotes microcephaly
T6 238-256 DiseaseClass denotes mental retardation
T7 363-372 DiseaseClass denotes Hypotonia
T8 374-397 SpecificDisease denotes chorioretinal dystrophy
T9 403-409 DiseaseClass denotes myopia
T10 574-592 DiseaseClass denotes mental retardation
T11 598-611 DiseaseClass denotes short stature
T12 660-674 SpecificDisease denotes Cohen syndrome
T13 1065-1079 SpecificDisease denotes Cohen syndrome
T14 1234-1248 SpecificDisease denotes Cohen syndrome

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 38-50 CompositeMention denotes microcephaly
T2 52-70 CompositeMention denotes mental retardation
T3 76-89 CompositeMention denotes short stature
T4 95-109 SpecificDisease denotes Cohen syndrome
T5 179-256 CompositeMention denotes microcephaly, progressive postnatal growth deficiency, and mental retardation
T6 363-372 Modifier denotes Hypotonia
T7 374-397 SpecificDisease denotes chorioretinal dystrophy
T8 403-409 Modifier denotes myopia
T9 574-592 CompositeMention denotes mental retardation
T10 598-611 CompositeMention denotes short stature
T11 660-674 SpecificDisease denotes Cohen syndrome
T12 1065-1079 SpecificDisease denotes Cohen syndrome
T13 1234-1248 SpecificDisease denotes Cohen syndrome