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PubMed:20728296 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-100 Sentence denotes Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.
TextSentencer_T2 101-411 Sentence denotes A patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome.
TextSentencer_T3 412-459 Sentence denotes This patient also had bilateral retinoblastoma.
TextSentencer_T4 460-660 Sentence denotes Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene.
TextSentencer_T5 661-789 Sentence denotes This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q.
T1 0-100 Sentence denotes Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.
T2 101-411 Sentence denotes A patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome.
T3 412-459 Sentence denotes This patient also had bilateral retinoblastoma.
T4 460-660 Sentence denotes Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from 13q14.13 to 13q32.3 and involving the RB1 gene.
T5 661-789 Sentence denotes This patient is the first case of Arima syndrome, or a Joubert syndrome-related disorder, that showed linkage to chromosome 13q.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 199-222 HP_0001263 denotes psychomotor retardation
T2 247-256 HP_0000639 denotes nystagmus
T3 258-269 HP_0000488 denotes retinopathy
T4 298-316 HP_0012443 denotes brain malformation
T5 304-327 HP_0011077 denotes malformation with molar
T6 322-338 HP_0002419 denotes molar tooth sign
T7 343-371 HP_0001320 denotes cerebellar vermis hypoplasia
T8 444-458 HP_0009919 denotes retinoblastoma

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 164-167 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm
PD-UBERON-AE-B_T2 241-245 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face
PD-UBERON-AE-B_T3 278-284 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T4 298-303 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T5 322-333 http://purl.obolibrary.org/obo/UBERON_0003655 denotes molar tooth
PD-UBERON-AE-B_T6 343-360 http://purl.obolibrary.org/obo/UBERON_0004720 denotes cerebellar vermis

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 85-99 HP:0009919 denotes retinoblastoma
AB1 247-256 HP:0000639 denotes nystagmus
AB2 258-269 HP:0000488 denotes retinopathy
AB3 343-371 HP:0001320 denotes cerebellar vermis hypoplasia
AB4 444-458 HP:0009919 denotes retinoblastoma

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 56-70 ORDO:2318 denotes Arima syndrome
TI2 85-99 ORDO:790 denotes retinoblastoma
AB1 396-410 ORDO:2318 denotes Arima syndrome
AB2 444-458 ORDO:790 denotes retinoblastoma
AB3 695-709 ORDO:2318 denotes Arima syndrome
AB4 716-732 ORDO:475 denotes Joubert syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 241-245 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face
PD-UBERON-AE-B_T2 164-167 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arm
PD-UBERON-AE-B_T3 278-284 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T4 298-303 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T5 322-333 http://purl.obolibrary.org/obo/UBERON_0003655 denotes molar tooth
PD-UBERON-AE-B_T6 343-360 http://purl.obolibrary.org/obo/UBERON_0004720 denotes cerebellar vermis