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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-127 Sentence denotes Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
TextSentencer_T2 128-340 Sentence denotes Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies.
TextSentencer_T3 341-460 Sentence denotes Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity.
TextSentencer_T4 461-670 Sentence denotes We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome.
TextSentencer_T5 671-810 Sentence denotes In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport.
TextSentencer_T6 811-928 Sentence denotes We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies.
TextSentencer_T7 929-1152 Sentence denotes Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome.
TextSentencer_T8 1153-1287 Sentence denotes Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD-JS.
TextSentencer_T9 1288-1400 Sentence denotes Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome.
TextSentencer_T10 1401-1587 Sentence denotes Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis.
TextSentencer_T11 1588-1738 Sentence denotes Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis-Van Creveld syndrome.
TextSentencer_T12 1739-1864 Sentence denotes We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype.
TextSentencer_T13 1865-1952 Sentence denotes Additional natural history data will improve genetic counseling and current guidelines.
T1 0-127 Sentence denotes Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
T2 128-340 Sentence denotes Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies.
T3 341-460 Sentence denotes Dramatic advances with next-generation sequencing have expanded its phenotypic variability and molecular heterogeneity.
T4 461-670 Sentence denotes We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome.
T5 671-810 Sentence denotes In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport.
T6 811-928 Sentence denotes We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies.
T7 929-1152 Sentence denotes Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome.
T8 1153-1287 Sentence denotes Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD-JS.
T9 1288-1400 Sentence denotes Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome.
T10 1401-1587 Sentence denotes Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis.
T11 1588-1738 Sentence denotes Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis-Van Creveld syndrome.
T12 1739-1864 Sentence denotes We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype.
T13 1865-1952 Sentence denotes Additional natural history data will improve genetic counseling and current guidelines.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 561-566 gene:57539 denotes WDR35
T1 647-669 disease:C0432235 denotes Sensenbrenner syndrome
T2 561-566 gene:57539 denotes WDR35
T3 608-624 disease:C0010278 denotes craniosynostosis
T4 897-900 gene:465 denotes ATD
T5 823-845 disease:C0432235 denotes Sensenbrenner syndrome
T6 897-900 gene:472 denotes ATD
T7 823-845 disease:C0432235 denotes Sensenbrenner syndrome
T8 897-900 gene:472 denotes ATD
T9 849-880 disease:C0265275 denotes asphyxiating thoracic dystrophy
T10 897-900 gene:465 denotes ATD
T11 849-880 disease:C0265275 denotes asphyxiating thoracic dystrophy
T12 1280-1283 gene:472 denotes ATD
T13 1253-1275 disease:C0432235 denotes Sensenbrenner syndrome
T14 1280-1283 gene:465 denotes ATD
T15 1253-1275 disease:C0432235 denotes Sensenbrenner syndrome
R1 T0 T1 associated_with WDR35,Sensenbrenner syndrome
R2 T2 T3 associated_with WDR35,craniosynostosis
R3 T4 T5 associated_with ATD,Sensenbrenner syndrome
R4 T6 T7 associated_with ATD,Sensenbrenner syndrome
R5 T8 T9 associated_with ATD,asphyxiating thoracic dystrophy
R6 T10 T11 associated_with ATD,asphyxiating thoracic dystrophy
R7 T12 T13 associated_with ATD,Sensenbrenner syndrome
R8 T14 T15 associated_with ATD,Sensenbrenner syndrome

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 324-339 HP_0001392 denotes liver anomalies
T2 595-624 HP_0011324 denotes multisutural craniosynostosis
T3 608-624 HP_0001363 denotes craniosynostosis
T4 958-980 HP_0009890 denotes high anterior hairline
T5 1003-1017 HP_0000268 denotes dolichocephaly
T6 1034-1059 HP_0004442 denotes sagittal craniosynostosis
T7 1043-1059 HP_0001363 denotes craniosynostosis
T8 1153-1174 HP_0100255 denotes Metaphyseal dysplasia
T9 1180-1193 HP_0000774 denotes narrow thorax
T10 1204-1218 HP_0009826 denotes limb shortness
T11 1224-1237 HP_0009381 denotes short fingers
T12 1224-1237 HP_0009803 denotes short fingers
T13 1517-1530 HP_0001156 denotes brachydactyly
T14 1561-1586 HP_0004442 denotes sagittal craniosynostosis
T15 1570-1586 HP_0001363 denotes craniosynostosis
T16 1593-1606 HP_0001627 denotes heart defects
T17 1647-1669 HP_0001674 denotes atrioventricular canal
T18 1647-1691 HP_0006695 denotes atrioventricular canal or heterotaxy defects

Allie

Id Subject Object Predicate Lexical cue
SS1_24123776_5_0 849-895 expanded denotes asphyxiating thoracic dystrophy-Jeune syndrome
SS2_24123776_5_0 897-903 abbr denotes ATD-JS
AE1_24123776_5_0 SS1_24123776_5_0 SS2_24123776_5_0 abbreviatedTo asphyxiating thoracic dystrophy-Jeune syndrome,ATD-JS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
24123776-3#100#105#gene57539 561-566 gene57539 denotes WDR35
24123776-3#147#163#diseaseC0010278 608-624 diseaseC0010278 denotes craniosynostosis
24123776-3#186#208#diseaseC0432235 647-669 diseaseC0432235 denotes Sensenbrenner syndrome
24123776-5#86#89#gene465 897-900 gene465 denotes ATD
24123776-5#38#69#diseaseC0265275 849-880 diseaseC0265275 denotes asphyxiating thoracic dystrophy
100#105#gene57539147#163#diseaseC0010278 24123776-3#100#105#gene57539 24123776-3#147#163#diseaseC0010278 associated_with WDR35,craniosynostosis
100#105#gene57539186#208#diseaseC0432235 24123776-3#100#105#gene57539 24123776-3#186#208#diseaseC0432235 associated_with WDR35,Sensenbrenner syndrome
86#89#gene46538#69#diseaseC0265275 24123776-5#86#89#gene465 24123776-5#38#69#diseaseC0265275 associated_with ATD,asphyxiating thoracic dystrophy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 608-624 HP:0001363 denotes craniosynostosis
AB2 958-980 HP:0009890 denotes high anterior hairline
AB3 1003-1017 HP:0000268 denotes dolichocephaly
AB4 1034-1059 HP:0004442 denotes sagittal craniosynostosis
AB5 1153-1174 HP:0100255 denotes Metaphyseal dysplasia
AB6 1224-1237 HP:0009381 denotes short fingers
AB7 1517-1530 HP:0001156 denotes brachydactyly
AB8 1561-1586 HP:0004442 denotes sagittal craniosynostosis
AB9 1673-1683 HP:0030853 denotes heterotaxy

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 128-150 ORDO:1515 denotes Sensenbrenner syndrome
TI1 24-50 ORDO:1515 denotes Cranioectodermal dysplasia
AB2 166-192 ORDO:1515 denotes cranioectodermal dysplasia
AB3 647-669 ORDO:1515 denotes Sensenbrenner syndrome
AB4 823-845 ORDO:1515 denotes Sensenbrenner syndrome
AB5 881-895 ORDO:474 denotes Jeune syndrome
AB6 1129-1151 ORDO:1515 denotes Sensenbrenner syndrome
AB7 1224-1237 ORDO:294996 denotes short fingers
AB8 1253-1275 ORDO:1515 denotes Sensenbrenner syndrome
AB9 1377-1399 ORDO:1515 denotes Sensenbrenner syndrome
AB10 1434-1456 ORDO:1515 denotes Sensenbrenner syndrome
AB11 1711-1737 ORDO:289 denotes Ellis-Van Creveld syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 282-292 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T2 1535-1545 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T3 294-311 http://purl.obolibrary.org/obo/UBERON_0002384 denotes connective tissue
PD-UBERON-AE-B_T4 305-311 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T5 324-329 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T6 972-980 http://purl.obolibrary.org/obo/UBERON_0004104 denotes hairline
PD-UBERON-AE-B_T7 982-990 http://purl.obolibrary.org/obo/UBERON_0008200 denotes forehead
PD-UBERON-AE-B_T8 1204-1208 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb
PD-UBERON-AE-B_T9 1593-1598 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart
PD-UBERON-AE-B_T10 1647-1669 http://purl.obolibrary.org/obo/UBERON_0002087 denotes atrioventricular canal

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 305-311 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 1593-1598 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart
PD-UBERON-AE-B_T3 324-329 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T4 294-311 http://purl.obolibrary.org/obo/UBERON_0002384 denotes connective tissue
PD-UBERON-AE-B_T5 1204-1208 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb
PD-UBERON-AE-B_T6 982-990 http://purl.obolibrary.org/obo/UBERON_0008200 denotes forehead
PD-UBERON-AE-B_T7 282-292 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T8 1535-1545 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T9 972-980 http://purl.obolibrary.org/obo/UBERON_0004104 denotes hairline
PD-UBERON-AE-B_T10 1647-1669 http://purl.obolibrary.org/obo/UBERON_0002087 denotes atrioventricular canal