PubMed:9674906
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T3 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T4 | 206-209 | SpecificDisease | denotes | SJS |
| T5 | 227-245 | DiseaseClass | denotes | skeletal dysplasia |
| T6 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T7 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T8 | 361-364 | SpecificDisease | denotes | SWS |
| T9 | 408-426 | DiseaseClass | denotes | skeletal dysplasia |
| T10 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T11 | 665-668 | SpecificDisease | denotes | SWS |
| T12 | 729-732 | SpecificDisease | denotes | SJS |
| T13 | 736-739 | SpecificDisease | denotes | SWS |
| T14 | 792-814 | DiseaseClass | denotes | neuromuscular disorder |
| T15 | 963-1004 | SpecificDisease | denotes | campomelic-metaphyseal skeletal dysplasia |
| T16 | 1206-1220 | DiseaseClass | denotes | bone dysplasia |
| T17 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T18 | 1272-1275 | SpecificDisease | denotes | SWS |
| T19 | 1365-1368 | SpecificDisease | denotes | SWS |
| T20 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T3 | 131-151 | Modifier | denotes | genetically distinct |
| T4 | 153-167 | Modifier | denotes | usually lethal |
| T5 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T6 | 206-209 | SpecificDisease | denotes | SJS |
| T7 | 214-222 | DiseaseClass | denotes | myotonia |
| T8 | 227-245 | DiseaseClass | denotes | skeletal dysplasia |
| T9 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T10 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T11 | 361-364 | SpecificDisease | denotes | SWS |
| T12 | 383-393 | DiseaseClass | denotes | campomelia |
| T13 | 408-426 | DiseaseClass | denotes | skeletal dysplasia |
| T14 | 428-440 | DiseaseClass | denotes | contractures |
| T15 | 720-728 | Modifier | denotes | neonatal |
| T16 | 729-732 | SpecificDisease | denotes | SJS |
| T17 | 736-739 | SpecificDisease | denotes | SWS |
| T18 | 769-775 | Modifier | denotes | severe |
| T19 | 777-791 | Modifier | denotes | prenatal-onset |
| T20 | 792-814 | DiseaseClass | denotes | neuromuscular disorder |
| T21 | 821-831 | Modifier | denotes | congenital |
| T22 | 838-850 | DiseaseClass | denotes | contractures |
| T23 | 852-888 | CompositeMention | denotes | respiratory and feeding difficulties |
| T24 | 902-914 | DiseaseClass | denotes | hyperthermia |
| T25 | 954-962 | Modifier | denotes | distinct |
| T26 | 963-1004 | DiseaseClass | denotes | campomelic-metaphyseal skeletal dysplasia |
| T27 | 1194-1205 | Modifier | denotes | progressive |
| T28 | 1206-1220 | DiseaseClass | denotes | bone dysplasia |
| T29 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T30 | 1272-1275 | SpecificDisease | denotes | SWS |
| T31 | 1365-1368 | SpecificDisease | denotes | SWS |
| T32 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T3 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T4 | 206-209 | SpecificDisease | denotes | SJS |
| T5 | 214-222 | DiseaseClass | denotes | myotonia |
| T6 | 227-245 | DiseaseClass | denotes | skeletal dysplasia |
| T7 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T8 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T9 | 361-364 | SpecificDisease | denotes | SWS |
| T10 | 408-426 | DiseaseClass | denotes | skeletal dysplasia |
| T11 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T12 | 665-668 | SpecificDisease | denotes | SWS |
| T13 | 729-732 | SpecificDisease | denotes | SJS |
| T14 | 736-739 | SpecificDisease | denotes | SWS |
| T15 | 777-814 | DiseaseClass | denotes | prenatal-onset neuromuscular disorder |
| T16 | 963-1004 | SpecificDisease | denotes | campomelic-metaphyseal skeletal dysplasia |
| T17 | 1194-1220 | DiseaseClass | denotes | progressive bone dysplasia |
| T18 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T19 | 1272-1275 | SpecificDisease | denotes | SWS |
| T20 | 1365-1368 | SpecificDisease | denotes | SWS |
| T21 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T2 | 206-209 | SpecificDisease | denotes | SJS |
| T3 | 227-245 | DiseaseClass | denotes | skeletal dysplasia |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T6 | 361-364 | SpecificDisease | denotes | SWS |
| T7 | 408-426 | DiseaseClass | denotes | skeletal dysplasia |
| T8 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T9 | 665-668 | SpecificDisease | denotes | SWS |
| T10 | 729-739 | CompositeMention | denotes | SJS or SWS |
| T11 | 792-814 | DiseaseClass | denotes | neuromuscular disorder |
| T12 | 963-1004 | SpecificDisease | denotes | campomelic-metaphyseal skeletal dysplasia |
| T13 | 1206-1220 | DiseaseClass | denotes | bone dysplasia |
| T14 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T15 | 1272-1275 | SpecificDisease | denotes | SWS |
| T16 | 1365-1383 | CompositeMention | denotes | SWS and SJS type 2 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-83 | Sentence | denotes | Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". |
| TextSentencer_T2 | 84-274 | Sentence | denotes | Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. |
| TextSentencer_T3 | 275-458 | Sentence | denotes | This disorder is reminiscent of another rare condition, the Stüve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, contractures, and early death. |
| TextSentencer_T4 | 459-684 | Sentence | denotes | To test for possible nosologic identity between these disorders, we reviewed the literature and obtained a follow-up of the only two surviving patients, one with SJS type 2 at age 10 years and another with SWS at age 7 years. |
| TextSentencer_T5 | 685-1005 | Sentence | denotes | Patients reported as having either neonatal SJS or SWS presented a combination of a severe, prenatal-onset neuromuscular disorder (with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy) with a distinct campomelic-metaphyseal skeletal dysplasia. |
| TextSentencer_T6 | 1006-1129 | Sentence | denotes | The similarity of the clinical and radiographic findings is so extensive that these disorders appear to be a single entity. |
| TextSentencer_T7 | 1130-1344 | Sentence | denotes | The follow-up observation of an identical and unique pattern of progressive bone dysplasia in the two patients (one with SJS type 2, one with SWS) surviving beyond infancy adds to the evidence in favor of identity. |
| TextSentencer_T8 | 1345-1446 | Sentence | denotes | The hypothesis that SWS and SJS type 2 are the same disorder should be testable by molecular methods. |
| T1 | 0-83 | Sentence | denotes | Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". |
| T2 | 84-274 | Sentence | denotes | Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. |
| T3 | 275-458 | Sentence | denotes | This disorder is reminiscent of another rare condition, the Stüve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, contractures, and early death. |
| T4 | 459-684 | Sentence | denotes | To test for possible nosologic identity between these disorders, we reviewed the literature and obtained a follow-up of the only two surviving patients, one with SJS type 2 at age 10 years and another with SWS at age 7 years. |
| T5 | 685-1005 | Sentence | denotes | Patients reported as having either neonatal SJS or SWS presented a combination of a severe, prenatal-onset neuromuscular disorder (with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy) with a distinct campomelic-metaphyseal skeletal dysplasia. |
| T6 | 1006-1129 | Sentence | denotes | The similarity of the clinical and radiographic findings is so extensive that these disorders appear to be a single entity. |
| T7 | 1130-1344 | Sentence | denotes | The follow-up observation of an identical and unique pattern of progressive bone dysplasia in the two patients (one with SJS type 2, one with SWS) surviving beyond infancy adds to the evidence in favor of identity. |
| T8 | 1345-1446 | Sentence | denotes | The hypothesis that SWS and SJS type 2 are the same disorder should be testable by molecular methods. |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 1069-1078 | http://purl.obolibrary.org/obo/UBERON_2000106 | denotes | extensive |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 214-222 | HP:0002486 | denotes | myotonia |
| AB2 | 227-245 | HP:0002652 | denotes | skeletal dysplasia |
| AB3 | 408-426 | HP:0002652 | denotes | skeletal dysplasia |
| AB4 | 868-888 | HP:0011968 | denotes | feeding difficulties |
| AB5 | 986-1004 | HP:0002652 | denotes | skeletal dysplasia |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 1069-1078 | http://purl.obolibrary.org/obo/UBERON_2000106 | denotes | extensive |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-31 | ORDO:3206 | denotes | Schwartz-Jampel syndrome type 2 |
| AB1 | 180-204 | ORDO:800 | denotes | Schwartz-Jampel syndrome |
| AB2 | 206-209 | ORDO:800 | denotes | SJS |
| AB3 | 263-266 | ORDO:800 | denotes | SJS |
| AB4 | 621-624 | ORDO:800 | denotes | SJS |
| AB5 | 729-732 | ORDO:800 | denotes | SJS |
| AB6 | 1251-1254 | ORDO:800 | denotes | SJS |
| AB7 | 1373-1376 | ORDO:800 | denotes | SJS |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease:C537502 | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease:C537502 | denotes | Stüve-Wiedemann syndrome |
| T3 | 180-204 | SpecificDisease:D010009 | denotes | Schwartz-Jampel syndrome |
| T4 | 206-209 | SpecificDisease:D010009 | denotes | SJS |
| T5 | 214-222 | SpecificDisease:D009222 | denotes | myotonia |
| T6 | 227-245 | SpecificDisease:MESH:C535662 | denotes | skeletal dysplasia |
| T7 | 263-273 | SpecificDisease:C537502 | denotes | SJS type 2 |
| T8 | 335-359 | SpecificDisease:C537502 | denotes | Stüve-Wiedemann syndrome |
| T9 | 361-364 | SpecificDisease:C537502 | denotes | SWS |
| T10 | 383-393 | SpecificDisease:C537966 | denotes | campomelia |
| T11 | 408-426 | SpecificDisease:MESH:C535662 | denotes | skeletal dysplasia |
| T12 | 428-440 | SpecificDisease:D003286 | denotes | contractures |
| T13 | 446-457 | SpecificDisease:D003643 | denotes | early death |
| T14 | 621-631 | SpecificDisease:C537502 | denotes | SJS type 2 |
| T15 | 665-668 | SpecificDisease:C537502 | denotes | SWS |
| T16 | 729-732 | SpecificDisease:D010009 | denotes | SJS |
| T17 | 736-739 | SpecificDisease:C537502 | denotes | SWS |
| T18 | 792-814 | DiseaseClass:D009468 | denotes | neuromuscular disorder |
| T19 | 821-850 | SpecificDisease:D003286 | denotes | congenital joint contractures |
| T20 | 902-914 | SpecificDisease:D005334 | denotes | hyperthermia |
| T21 | 963-1004 | SpecificDisease:D055036 | denotes | campomelic-metaphyseal skeletal dysplasia |
| T22 | 1206-1220 | SpecificDisease:D001848 | denotes | bone dysplasia |
| T23 | 1251-1261 | SpecificDisease:C537502 | denotes | SJS type 2 |
| T24 | 1272-1275 | SpecificDisease:C537502 | denotes | SWS |
| T25 | 1365-1368 | SpecificDisease:C537502 | denotes | SWS |
| T26 | 1373-1383 | SpecificDisease:C537502 | denotes | SJS type 2 |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T372 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 | C537502 |
| T373 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome | C537502 |
| T374 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome | D010009 |
| T375 | 206-209 | SpecificDisease | denotes | SJS | D010009 |
| T376 | 214-222 | SpecificDisease | denotes | myotonia | D009222 |
| T377 | 227-245 | SpecificDisease | denotes | skeletal dysplasia | MESH:C535662 |
| T378 | 263-273 | SpecificDisease | denotes | SJS type 2 | C537502 |
| T379 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome | C537502 |
| T380 | 361-364 | SpecificDisease | denotes | SWS | C537502 |
| T381 | 383-393 | SpecificDisease | denotes | campomelia | C537966 |
| T382 | 408-426 | SpecificDisease | denotes | skeletal dysplasia | MESH:C535662 |
| T383 | 428-440 | SpecificDisease | denotes | contractures | D003286 |
| T384 | 446-457 | SpecificDisease | denotes | early death | D003643 |
| T385 | 621-631 | SpecificDisease | denotes | SJS type 2 | C537502 |
| T386 | 665-668 | SpecificDisease | denotes | SWS | C537502 |
| T387 | 729-732 | SpecificDisease | denotes | SJS | D010009 |
| T388 | 736-739 | SpecificDisease | denotes | SWS | C537502 |
| T389 | 792-814 | DiseaseClass | denotes | neuromuscular disorder | D009468 |
| T390 | 821-850 | SpecificDisease | denotes | congenital joint contractures | D003286 |
| T391 | 902-914 | SpecificDisease | denotes | hyperthermia | D005334 |
| T392 | 963-1004 | SpecificDisease | denotes | campomelic-metaphyseal skeletal dysplasia | D055036 |
| T393 | 1206-1220 | SpecificDisease | denotes | bone dysplasia | D001848 |
| T394 | 1251-1261 | SpecificDisease | denotes | SJS type 2 | C537502 |
| T395 | 1272-1275 | SpecificDisease | denotes | SWS | C537502 |
| T396 | 1365-1368 | SpecificDisease | denotes | SWS | C537502 |
| T397 | 1373-1383 | SpecificDisease | denotes | SJS type 2 | C537502 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-210 | SpecificDisease | denotes | Schwartz-Jampel syndrome (SJS) |
| T3 | 214-222 | DiseaseClass | denotes | myotonia |
| T4 | 227-245 | DiseaseClass | denotes | skeletal dysplasia |
| T5 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T6 | 335-365 | SpecificDisease | denotes | Stüve-Wiedemann syndrome (SWS) |
| T7 | 383-393 | DiseaseClass | denotes | campomelia |
| T8 | 408-426 | DiseaseClass | denotes | skeletal dysplasia |
| T9 | 428-440 | DiseaseClass | denotes | contractures |
| T10 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T11 | 665-668 | SpecificDisease | denotes | SWS |
| T12 | 729-732 | SpecificDisease | denotes | SJS |
| T13 | 736-739 | SpecificDisease | denotes | SWS |
| T14 | 792-814 | DiseaseClass | denotes | neuromuscular disorder |
| T15 | 821-850 | DiseaseClass | denotes | congenital joint contractures |
| T16 | 852-888 | DiseaseClass | denotes | respiratory and feeding difficulties |
| T17 | 902-914 | DiseaseClass | denotes | hyperthermia |
| T18 | 963-1004 | CompositeMention | denotes | campomelic-metaphyseal skeletal dysplasia |
| T19 | 1206-1220 | DiseaseClass | denotes | bone dysplasia |
| T20 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T21 | 1272-1275 | SpecificDisease | denotes | SWS |
| T22 | 1365-1368 | SpecificDisease | denotes | SWS |
| T23 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-210 | SpecificDisease | denotes | Schwartz-Jampel syndrome (SJS) |
| T3 | 214-245 | CompositeMention | denotes | myotonia and skeletal dysplasia |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-365 | SpecificDisease | denotes | Stüve-Wiedemann syndrome (SWS) |
| T6 | 383-457 | CompositeMention | denotes | campomelia at birth with skeletal dysplasia, contractures, and early death |
| T7 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T8 | 665-668 | SpecificDisease | denotes | SWS |
| T9 | 720-728 | Modifier | denotes | neonatal |
| T10 | 729-732 | SpecificDisease | denotes | SJS |
| T11 | 736-739 | SpecificDisease | denotes | SWS |
| T12 | 769-791 | Modifier | denotes | severe, prenatal-onset |
| T13 | 792-946 | CompositeMention | denotes | neuromuscular disorder (with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy) |
| T14 | 963-1004 | CompositeMention | denotes | campomelic-metaphyseal skeletal dysplasia |
| T15 | 1194-1205 | Modifier | denotes | progressive |
| T16 | 1206-1220 | SpecificDisease | denotes | bone dysplasia |
| T17 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T18 | 1272-1275 | SpecificDisease | denotes | SWS |
| T19 | 1365-1368 | SpecificDisease | denotes | SWS |
| T20 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T3 | 180-210 | SpecificDisease | denotes | Schwartz-Jampel syndrome (SJS) |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-365 | SpecificDisease | denotes | Stüve-Wiedemann syndrome (SWS) |
| T6 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T7 | 665-668 | SpecificDisease | denotes | SWS |
| T8 | 720-732 | SpecificDisease | denotes | neonatal SJS |
| T9 | 736-739 | SpecificDisease | denotes | SWS |
| T10 | 963-1004 | SpecificDisease | denotes | campomelic-metaphyseal skeletal dysplasia |
| T11 | 1194-1220 | SpecificDisease | denotes | progressive bone dysplasia |
| T12 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T13 | 1272-1275 | SpecificDisease | denotes | SWS |
| T14 | 1365-1368 | SpecificDisease | denotes | SWS |
| T15 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T3 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T4 | 206-209 | SpecificDisease | denotes | SJS |
| T5 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T6 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T7 | 361-364 | SpecificDisease | denotes | SWS |
| T8 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T9 | 665-668 | SpecificDisease | denotes | SWS |
| T10 | 720-732 | SpecificDisease | denotes | neonatal SJS |
| T11 | 736-739 | SpecificDisease | denotes | SWS |
| T12 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T13 | 1272-1275 | SpecificDisease | denotes | SWS |
| T14 | 1365-1368 | SpecificDisease | denotes | SWS |
| T15 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T3 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T4 | 206-209 | SpecificDisease | denotes | SJS |
| T5 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T6 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T7 | 361-364 | SpecificDisease | denotes | SWS |
| T8 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T9 | 665-668 | SpecificDisease | denotes | SWS |
| T10 | 720-732 | SpecificDisease | denotes | neonatal SJS |
| T11 | 736-739 | SpecificDisease | denotes | SWS |
| T12 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T13 | 1272-1275 | SpecificDisease | denotes | SWS |
| T14 | 1365-1368 | SpecificDisease | denotes | SWS |
| T15 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T2 | 206-209 | SpecificDisease | denotes | SJS |
| T3 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T4 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T5 | 361-364 | SpecificDisease | denotes | SWS |
| T6 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T7 | 665-668 | SpecificDisease | denotes | SWS |
| T8 | 729-732 | SpecificDisease | denotes | SJS |
| T9 | 736-739 | SpecificDisease | denotes | SWS |
| T10 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T11 | 1272-1275 | SpecificDisease | denotes | SWS |
| T12 | 1365-1368 | SpecificDisease | denotes | SWS |
| T13 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T2 | 206-209 | SpecificDisease | denotes | SJS |
| T3 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T4 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T5 | 361-364 | SpecificDisease | denotes | SWS |
| T6 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T7 | 665-668 | SpecificDisease | denotes | SWS |
| T8 | 729-732 | SpecificDisease | denotes | SJS |
| T9 | 736-739 | SpecificDisease | denotes | SWS |
| T10 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T11 | 1272-1275 | SpecificDisease | denotes | SWS |
| T12 | 1365-1368 | SpecificDisease | denotes | SWS |
| T13 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T3 | 206-209 | SpecificDisease | denotes | SJS |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T6 | 361-364 | SpecificDisease | denotes | SWS |
| T7 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T8 | 665-668 | SpecificDisease | denotes | SWS |
| T9 | 729-732 | SpecificDisease | denotes | SJS |
| T10 | 736-739 | SpecificDisease | denotes | SWS |
| T11 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T12 | 1272-1275 | SpecificDisease | denotes | SWS |
| T13 | 1365-1368 | SpecificDisease | denotes | SWS |
| T14 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T3 | 206-209 | SpecificDisease | denotes | SJS |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T6 | 361-364 | SpecificDisease | denotes | SWS |
| T7 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T8 | 665-668 | SpecificDisease | denotes | SWS |
| T9 | 729-732 | SpecificDisease | denotes | SJS |
| T10 | 736-739 | SpecificDisease | denotes | SWS |
| T11 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T12 | 1272-1275 | SpecificDisease | denotes | SWS |
| T13 | 1365-1368 | SpecificDisease | denotes | SWS |
| T14 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T372 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 | C537502 |
| T373 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome | C537502 |
| T374 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome | D010009 |
| T375 | 206-209 | SpecificDisease | denotes | SJS | D010009 |
| T376 | 214-222 | SpecificDisease | denotes | myotonia | D009222 |
| T377 | 227-245 | SpecificDisease | denotes | skeletal dysplasia | MESH:C535662 |
| T378 | 263-273 | SpecificDisease | denotes | SJS type 2 | C537502 |
| T379 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome | C537502 |
| T380 | 361-364 | SpecificDisease | denotes | SWS | C537502 |
| T381 | 383-393 | SpecificDisease | denotes | campomelia | C537966 |
| T382 | 408-426 | SpecificDisease | denotes | skeletal dysplasia | MESH:C535662 |
| T383 | 428-440 | SpecificDisease | denotes | contractures | D003286 |
| T384 | 446-457 | SpecificDisease | denotes | early death | D003643 |
| T385 | 621-631 | SpecificDisease | denotes | SJS type 2 | C537502 |
| T386 | 665-668 | SpecificDisease | denotes | SWS | C537502 |
| T387 | 729-732 | SpecificDisease | denotes | SJS | D010009 |
| T388 | 736-739 | SpecificDisease | denotes | SWS | C537502 |
| T389 | 792-814 | DiseaseClass | denotes | neuromuscular disorder | D009468 |
| T390 | 821-850 | SpecificDisease | denotes | congenital joint contractures | D003286 |
| T391 | 902-914 | SpecificDisease | denotes | hyperthermia | D005334 |
| T392 | 963-1004 | SpecificDisease | denotes | campomelic-metaphyseal skeletal dysplasia | D055036 |
| T393 | 1206-1220 | SpecificDisease | denotes | bone dysplasia | D001848 |
| T394 | 1251-1261 | SpecificDisease | denotes | SJS type 2 | C537502 |
| T395 | 1272-1275 | SpecificDisease | denotes | SWS | C537502 |
| T396 | 1365-1368 | SpecificDisease | denotes | SWS | C537502 |
| T397 | 1373-1383 | SpecificDisease | denotes | SJS type 2 | C537502 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T3 | 206-209 | SpecificDisease | denotes | SJS |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T6 | 361-364 | SpecificDisease | denotes | SWS |
| T7 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T8 | 665-668 | SpecificDisease | denotes | SWS |
| T9 | 729-732 | SpecificDisease | denotes | SJS |
| T10 | 736-739 | SpecificDisease | denotes | SWS |
| T11 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T12 | 1272-1275 | SpecificDisease | denotes | SWS |
| T13 | 1365-1368 | SpecificDisease | denotes | SWS |
| T14 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T3 | 206-209 | SpecificDisease | denotes | SJS |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T6 | 361-364 | SpecificDisease | denotes | SWS |
| T7 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T8 | 665-668 | SpecificDisease | denotes | SWS |
| T9 | 729-732 | SpecificDisease | denotes | SJS |
| T10 | 736-739 | SpecificDisease | denotes | SWS |
| T11 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T12 | 1272-1275 | SpecificDisease | denotes | SWS |
| T13 | 1365-1368 | SpecificDisease | denotes | SWS |
| T14 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-210 | SpecificDisease | denotes | Schwartz-Jampel syndrome (SJS) |
| T3 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T4 | 335-365 | SpecificDisease | denotes | Stüve-Wiedemann syndrome (SWS) |
| T5 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T6 | 665-668 | SpecificDisease | denotes | SWS |
| T7 | 729-732 | SpecificDisease | denotes | SJS |
| T8 | 736-739 | SpecificDisease | denotes | SWS |
| T9 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T10 | 1272-1275 | SpecificDisease | denotes | SWS |
| T11 | 1365-1368 | SpecificDisease | denotes | SWS |
| T12 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease | denotes | Schwartz-Jampel syndrome type 2 |
| T2 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T3 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T4 | 214-245 | CompositeMention | denotes | myotonia and skeletal dysplasia |
| T5 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T6 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T7 | 383-457 | DiseaseClass | denotes | campomelia at birth with skeletal dysplasia, contractures, and early death |
| T8 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T9 | 665-668 | SpecificDisease | denotes | SWS |
| T10 | 729-732 | SpecificDisease | denotes | SJS |
| T11 | 736-739 | SpecificDisease | denotes | SWS |
| T12 | 769-814 | DiseaseClass | denotes | severe, prenatal-onset neuromuscular disorder |
| T13 | 821-831 | Modifier | denotes | congenital |
| T14 | 838-850 | Modifier | denotes | contractures |
| T15 | 852-888 | DiseaseClass | denotes | respiratory and feeding difficulties |
| T16 | 902-914 | DiseaseClass | denotes | hyperthermia |
| T17 | 929-945 | Modifier | denotes | death in infancy |
| T18 | 963-1004 | CompositeMention | denotes | campomelic-metaphyseal skeletal dysplasia |
| T19 | 1194-1220 | DiseaseClass | denotes | progressive bone dysplasia |
| T20 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T21 | 1272-1275 | SpecificDisease | denotes | SWS |
| T22 | 1365-1368 | SpecificDisease | denotes | SWS |
| T23 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
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| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T3 | 206-209 | SpecificDisease | denotes | SJS |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T6 | 361-364 | SpecificDisease | denotes | SWS |
| T7 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T8 | 665-668 | SpecificDisease | denotes | SWS |
| T9 | 729-739 | CompositeMention | denotes | SJS or SWS |
| T10 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T11 | 1272-1275 | SpecificDisease | denotes | SWS |
| T12 | 1365-1368 | SpecificDisease | denotes | SWS |
| T13 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |
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| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 36-60 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T2 | 180-204 | SpecificDisease | denotes | Schwartz-Jampel syndrome |
| T3 | 206-209 | SpecificDisease | denotes | SJS |
| T4 | 263-273 | SpecificDisease | denotes | SJS type 2 |
| T5 | 335-359 | SpecificDisease | denotes | Stüve-Wiedemann syndrome |
| T6 | 361-364 | SpecificDisease | denotes | SWS |
| T7 | 621-631 | SpecificDisease | denotes | SJS type 2 |
| T8 | 665-668 | SpecificDisease | denotes | SWS |
| T9 | 729-732 | SpecificDisease | denotes | SJS |
| T10 | 736-739 | SpecificDisease | denotes | SWS |
| T11 | 1251-1261 | SpecificDisease | denotes | SJS type 2 |
| T12 | 1272-1275 | SpecificDisease | denotes | SWS |
| T13 | 1365-1368 | SpecificDisease | denotes | SWS |
| T14 | 1373-1383 | SpecificDisease | denotes | SJS type 2 |