PubMed:9585583
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | SpecificDisease | denotes | craniosynostosis |
| T4 | 561-585 | Modifier | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T6 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T7 | 1232-1280 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndromes |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 219-233 | DiseaseClass | denotes | limb anomalies |
| T5 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T6 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T7 | 865-878 | SpecificDisease | denotes | brachycephaly |
| T8 | 880-900 | SpecificDisease | denotes | low frontal hairline |
| T9 | 902-918 | SpecificDisease | denotes | facial asymmetry |
| T10 | 920-926 | SpecificDisease | denotes | ptosis |
| T11 | 928-941 | SpecificDisease | denotes | hypertelorism |
| T12 | 943-959 | SpecificDisease | denotes | broad great toes |
| T13 | 965-977 | SpecificDisease | denotes | clinodactyly |
| T14 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T15 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T16 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T17 | 1262-1280 | SpecificDisease | denotes | Pfeiffer syndromes |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 166-194 | DiseaseClass | denotes | autosomal dominant condition |
| T4 | 198-214 | Modifier | denotes | craniosynostosis |
| T5 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T6 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T7 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T8 | 1232-1280 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndromes |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 166-214 | DiseaseClass | denotes | autosomal dominant condition of craniosynostosis |
| T4 | 561-585 | Modifier | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T6 | 865-878 | SpecificDisease | denotes | brachycephaly |
| T7 | 920-926 | SpecificDisease | denotes | ptosis |
| T8 | 928-941 | SpecificDisease | denotes | hypertelorism |
| T9 | 965-977 | SpecificDisease | denotes | clinodactyly |
| T10 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T11 | 1232-1280 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndromes |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 824-829 | gene:7291 | denotes | TWIST |
| T1 | 965-977 | disease:C0265610 | denotes | clinodactyly |
| R1 | T0 | T1 | associated_with | TWIST,clinodactyly |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9585583-1#182#187#gene7291 | 266-271 | gene7291 | denotes | TWIST |
| 9585583-1#200#205#gene2261 | 284-289 | gene2261 | denotes | FGFR3 |
| 9585583-1#114#130#diseaseC0010278 | 198-214 | diseaseC0010278 | denotes | craniosynostosis |
| 9585583-4#32#37#gene7291 | 523-528 | gene7291 | denotes | TWIST |
| 9585583-4#70#94#diseaseC0175699 | 561-585 | diseaseC0175699 | denotes | Saethre-Chotzen syndrome |
| 182#187#gene7291114#130#diseaseC0010278 | 9585583-1#182#187#gene7291 | 9585583-1#114#130#diseaseC0010278 | associated_with | TWIST,craniosynostosis |
| 200#205#gene2261114#130#diseaseC0010278 | 9585583-1#200#205#gene2261 | 9585583-1#114#130#diseaseC0010278 | associated_with | FGFR3,craniosynostosis |
| 32#37#gene729170#94#diseaseC0175699 | 9585583-4#32#37#gene7291 | 9585583-4#70#94#diseaseC0175699 | associated_with | TWIST,Saethre-Chotzen syndrome |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease:OMIM:101400 | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease:OMIM:101400 | denotes | Saethre-Chotzen syndrome |
| T3 | 166-194 | DiseaseClass:D030342 | denotes | autosomal dominant condition |
| T4 | 198-214 | SpecificDisease:D003398 | denotes | craniosynostosis |
| T5 | 219-233 | DiseaseClass:D017880 | denotes | limb anomalies |
| T6 | 561-585 | Modifier:OMIM:101400 | denotes | Saethre-Chotzen syndrome |
| T7 | 845-863 | SpecificDisease:D003398 | denotes | coronal synostosis |
| T8 | 865-878 | SpecificDisease:D003398 | denotes | brachycephaly |
| T9 | 880-900 | SpecificDisease:D019465 | denotes | low frontal hairline |
| T10 | 902-918 | SpecificDisease:D005146 | denotes | facial asymmetry |
| T11 | 920-926 | SpecificDisease:D001763 | denotes | ptosis |
| T12 | 928-941 | SpecificDisease:D006972 | denotes | hypertelorism |
| T13 | 943-959 | SpecificDisease:D005532 | denotes | broad great toes |
| T14 | 965-977 | SpecificDisease:C536852 | denotes | clinodactyly |
| T15 | 1197-1223 | DiseaseClass:D003398 | denotes | craniosynostotic condition |
| T16 | 1232-1280 | CompositeMention:OMIM:101400|OMIM:123500|OMIM:101600 | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndromes |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T489 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome | OMIM:101400 |
| T490 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome | OMIM:101400 |
| T491 | 166-194 | DiseaseClass | denotes | autosomal dominant condition | D030342 |
| T492 | 198-214 | SpecificDisease | denotes | craniosynostosis | D003398 |
| T493 | 219-233 | DiseaseClass | denotes | limb anomalies | D017880 |
| T494 | 561-585 | Modifier | denotes | Saethre-Chotzen syndrome | OMIM:101400 |
| T495 | 845-863 | SpecificDisease | denotes | coronal synostosis | D003398 |
| T496 | 865-878 | SpecificDisease | denotes | brachycephaly | D003398 |
| T497 | 880-900 | SpecificDisease | denotes | low frontal hairline | D019465 |
| T498 | 902-918 | SpecificDisease | denotes | facial asymmetry | D005146 |
| T499 | 920-926 | SpecificDisease | denotes | ptosis | D001763 |
| T500 | 928-941 | SpecificDisease | denotes | hypertelorism | D006972 |
| T501 | 943-959 | SpecificDisease | denotes | broad great toes | D005532 |
| T502 | 965-977 | SpecificDisease | denotes | clinodactyly | C536852 |
| T503 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition | D003398 |
| T504 | 1232-1280 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndromes | OMIM:101400|OMIM:123500|OMIM:101600 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T6 | 865-878 | SpecificDisease | denotes | brachycephaly |
| T7 | 920-926 | SpecificDisease | denotes | ptosis |
| T8 | 928-941 | SpecificDisease | denotes | hypertelorism |
| T9 | 965-977 | SpecificDisease | denotes | clinodactyly |
| T10 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T13 | 1262-1279 | SpecificDisease | denotes | Pfeiffer syndrome |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | DiseaseClass | denotes | coronal synostosis |
| T6 | 865-878 | DiseaseClass | denotes | brachycephaly |
| T7 | 880-900 | Modifier | denotes | low frontal hairline |
| T8 | 902-918 | Modifier | denotes | facial asymmetry |
| T9 | 920-926 | DiseaseClass | denotes | ptosis |
| T10 | 928-941 | DiseaseClass | denotes | hypertelorism |
| T11 | 943-959 | Modifier | denotes | broad great toes |
| T12 | 965-977 | DiseaseClass | denotes | clinodactyly |
| T13 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T14 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T15 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T16 | 1262-1279 | SpecificDisease | denotes | Pfeiffer syndrome |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | SpecificDisease | denotes | craniosynostosis |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T6 | 1232-1279 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndrome |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T4 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T5 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T6 | 1262-1280 | SpecificDisease | denotes | Pfeiffer syndromes |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T4 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T5 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T6 | 1262-1280 | SpecificDisease | denotes | Pfeiffer syndromes |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | DiseaseClass | denotes | coronal synostosis |
| T6 | 865-878 | DiseaseClass | denotes | brachycephaly |
| T7 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T10 | 1262-1279 | SpecificDisease | denotes | Pfeiffer syndrome |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 166-194 | DiseaseClass | denotes | autosomal dominant condition |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 1232-1280 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndromes |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T6 | 1262-1279 | SpecificDisease | denotes | Pfeiffer syndrome |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T6 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T7 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T8 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T9 | 1262-1280 | SpecificDisease | denotes | Pfeiffer syndromes |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T489 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome | OMIM:101400 |
| T490 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome | OMIM:101400 |
| T491 | 166-194 | DiseaseClass | denotes | autosomal dominant condition | D030342 |
| T492 | 198-214 | SpecificDisease | denotes | craniosynostosis | D003398 |
| T493 | 219-233 | DiseaseClass | denotes | limb anomalies | D017880 |
| T494 | 561-585 | Modifier | denotes | Saethre-Chotzen syndrome | OMIM:101400 |
| T495 | 845-863 | SpecificDisease | denotes | coronal synostosis | D003398 |
| T496 | 865-878 | SpecificDisease | denotes | brachycephaly | D003398 |
| T497 | 880-900 | SpecificDisease | denotes | low frontal hairline | D019465 |
| T498 | 902-918 | SpecificDisease | denotes | facial asymmetry | D005146 |
| T499 | 920-926 | SpecificDisease | denotes | ptosis | D001763 |
| T500 | 928-941 | SpecificDisease | denotes | hypertelorism | D006972 |
| T501 | 943-959 | SpecificDisease | denotes | broad great toes | D005532 |
| T502 | 965-977 | SpecificDisease | denotes | clinodactyly | C536852 |
| T503 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition | D003398 |
| T504 | 1232-1280 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndromes | OMIM:101400|OMIM:123500|OMIM:101600 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | DiseaseClass | denotes | coronal synostosis |
| T6 | 865-878 | DiseaseClass | denotes | brachycephaly |
| T7 | 920-926 | DiseaseClass | denotes | ptosis |
| T8 | 928-941 | DiseaseClass | denotes | hypertelorism |
| T9 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T10 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T11 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T12 | 1262-1280 | CompositeMention | denotes | Pfeiffer syndromes |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 561-585 | Modifier | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T6 | 865-878 | SpecificDisease | denotes | brachycephaly |
| T7 | 920-926 | SpecificDisease | denotes | ptosis |
| T8 | 928-941 | SpecificDisease | denotes | hypertelorism |
| T9 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T10 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T11 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T12 | 1262-1280 | SpecificDisease | denotes | Pfeiffer syndromes |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 166-233 | DiseaseClass | denotes | autosomal dominant condition of craniosynostosis and limb anomalies |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T6 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T7 | 1262-1280 | SpecificDisease | denotes | Pfeiffer syndromes |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 198-214 | DiseaseClass | denotes | craniosynostosis |
| T4 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T5 | 845-863 | SpecificDisease | denotes | coronal synostosis |
| T6 | 865-878 | SpecificDisease | denotes | brachycephaly |
| T7 | 880-900 | Modifier | denotes | low frontal hairline |
| T8 | 902-918 | Modifier | denotes | facial asymmetry |
| T9 | 920-926 | SpecificDisease | denotes | ptosis |
| T10 | 928-941 | SpecificDisease | denotes | hypertelorism |
| T11 | 943-959 | SpecificDisease | denotes | broad great toes |
| T12 | 965-977 | SpecificDisease | denotes | clinodactyly |
| T13 | 1197-1223 | DiseaseClass | denotes | craniosynostotic condition |
| T14 | 1232-1247 | SpecificDisease | denotes | Saethre-Chotzen |
| T15 | 1249-1256 | SpecificDisease | denotes | Crouzon |
| T16 | 1262-1280 | SpecificDisease | denotes | Pfeiffer syndromes |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T6 | 1262-1279 | SpecificDisease | denotes | Pfeiffer syndrome |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-49 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T2 | 131-155 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T3 | 561-585 | SpecificDisease | denotes | Saethre-Chotzen syndrome |
| T4 | 1232-1279 | CompositeMention | denotes | Saethre-Chotzen, Crouzon, and Pfeiffer syndrome |