PubMed:10607954
Annnotations
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 133-159 | HP_0000655 | denotes | vitreoretinal degeneration |
| T2 | 161-172 | HP_0011003 | denotes | high myopia |
| T3 | 166-172 | HP_0000545 | denotes | myopia |
| T4 | 174-182 | HP_0000518 | denotes | cataract |
| T5 | 184-195 | HP_0000506 | denotes | telecanthus |
| T6 | 197-210 | HP_0000316 | denotes | hypertelorism |
| T7 | 218-236 | HP_0000218 | denotes | high-arched palate |
| T8 | 283-305 | HP_0007385 | denotes | scalp with involvement |
| T9 | 283-305 | HP_0001965 | denotes | scalp with involvement |
| T10 | 294-325 | HP_0430000 | denotes | involvement of the frontal bone |
| T11 | 294-320 | HP_0010245 | denotes | involvement of the frontal |
| T12 | 313-325 | HP_0005466 | denotes | frontal bone |
| T13 | 638-651 | HP_0007385 | denotes | scalp defects |
| T14 | 638-651 | HP_0001965 | denotes | scalp defects |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 588-595 | http://purl.obolibrary.org/obo/UBERON_0012131 | denotes | central |
| PD-UBERON-AE-B_T2 | 588-610 | http://purl.obolibrary.org/obo/UBERON_0001017 | denotes | central nervous system |
| PD-UBERON-AE-B_T3 | 596-610 | http://purl.obolibrary.org/obo/UBERON_0001016 | denotes | nervous system |
| PD-UBERON-AE-B_T4 | 380-385 | http://purl.obolibrary.org/obo/UBERON_0000955 | denotes | brain |
| PD-UBERON-AE-B_T5 | 36-41 | http://purl.obolibrary.org/obo/UBERON_0000403 | denotes | scalp |
| PD-UBERON-AE-B_T6 | 283-288 | http://purl.obolibrary.org/obo/UBERON_0000403 | denotes | scalp |
| PD-UBERON-AE-B_T7 | 638-643 | http://purl.obolibrary.org/obo/UBERON_0000403 | denotes | scalp |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 133-159 | HP:0000655 | denotes | vitreoretinal degeneration |
| AB2 | 166-172 | HP:0000545 | denotes | myopia |
| AB3 | 174-182 | HP:0000518 | denotes | cataract |
| AB4 | 184-195 | HP:0000506 | denotes | telecanthus |
| AB5 | 197-210 | HP:0000316 | denotes | hypertelorism |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-17 | ORDO:1571 | denotes | Knobloch syndrome |
| AB1 | 107-124 | ORDO:1571 | denotes | Knobloch syndrome |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 36-41 | http://purl.obolibrary.org/obo/UBERON_0000403 | denotes | scalp |
| PD-UBERON-AE-B_T2 | 283-288 | http://purl.obolibrary.org/obo/UBERON_0000403 | denotes | scalp |
| PD-UBERON-AE-B_T3 | 638-643 | http://purl.obolibrary.org/obo/UBERON_0000403 | denotes | scalp |
| PD-UBERON-AE-B_T4 | 380-385 | http://purl.obolibrary.org/obo/UBERON_0000955 | denotes | brain |
| PD-UBERON-AE-B_T5 | 588-595 | http://purl.obolibrary.org/obo/UBERON_0012131 | denotes | central |
| PD-UBERON-AE-B_T6 | 588-610 | http://purl.obolibrary.org/obo/UBERON_0001017 | denotes | central nervous system |
| PD-UBERON-AE-B_T7 | 596-610 | http://purl.obolibrary.org/obo/UBERON_0001016 | denotes | nervous system |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-71 | Sentence | denotes | Knobloch syndrome involving midline scalp defect of the frontal region. |
| TextSentencer_T2 | 72-125 | Sentence | denotes | We report on a 4-year-old boy with Knobloch syndrome. |
| TextSentencer_T3 | 126-237 | Sentence | denotes | He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. |
| TextSentencer_T4 | 238-375 | Sentence | denotes | He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. |
| TextSentencer_T5 | 376-439 | Sentence | denotes | The brain was normal on CT scan and magnetic resonance imaging. |
| TextSentencer_T6 | 440-505 | Sentence | denotes | We present a review of the 23 published cases with this syndrome. |
| TextSentencer_T7 | 506-664 | Sentence | denotes | Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present. |
| T1 | 0-71 | Sentence | denotes | Knobloch syndrome involving midline scalp defect of the frontal region. |
| T2 | 72-125 | Sentence | denotes | We report on a 4-year-old boy with Knobloch syndrome. |
| T3 | 126-237 | Sentence | denotes | He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. |
| T4 | 238-375 | Sentence | denotes | He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. |
| T5 | 376-439 | Sentence | denotes | The brain was normal on CT scan and magnetic resonance imaging. |
| T6 | 440-505 | Sentence | denotes | We present a review of the 23 published cases with this syndrome. |
| T7 | 506-664 | Sentence | denotes | Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present. |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-17 | SpecificDisease:C537209 | denotes | Knobloch syndrome |
| T2 | 28-70 | DiseaseClass:C538225 | denotes | midline scalp defect of the frontal region |
| T3 | 107-124 | SpecificDisease:C537209 | denotes | Knobloch syndrome |
| T4 | 133-159 | SpecificDisease:D012162 | denotes | vitreoretinal degeneration |
| T5 | 161-172 | SpecificDisease:D009216 | denotes | high myopia |
| T6 | 174-182 | SpecificDisease:D002386 | denotes | cataract |
| T7 | 184-195 | SpecificDisease:D030342 | denotes | telecanthus |
| T8 | 197-210 | SpecificDisease:D006972 | denotes | hypertelorism |
| T9 | 218-236 | SpecificDisease:D007569 | denotes | high-arched palate |
| T10 | 252-288 | DiseaseClass:C538225 | denotes | defect of the anterior midline scalp |
| T11 | 630-651 | DiseaseClass:C538225 | denotes | midline scalp defects |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T843 | 0-17 | SpecificDisease | denotes | Knobloch syndrome | C537209 |
| T844 | 28-70 | DiseaseClass | denotes | midline scalp defect of the frontal region | C538225 |
| T845 | 107-124 | SpecificDisease | denotes | Knobloch syndrome | C537209 |
| T846 | 133-159 | SpecificDisease | denotes | vitreoretinal degeneration | D012162 |
| T847 | 161-172 | SpecificDisease | denotes | high myopia | D009216 |
| T848 | 174-182 | SpecificDisease | denotes | cataract | D002386 |
| T849 | 184-195 | SpecificDisease | denotes | telecanthus | D030342 |
| T850 | 197-210 | SpecificDisease | denotes | hypertelorism | D006972 |
| T851 | 218-236 | SpecificDisease | denotes | high-arched palate | D007569 |
| T852 | 252-288 | DiseaseClass | denotes | defect of the anterior midline scalp | C538225 |
| T853 | 630-651 | DiseaseClass | denotes | midline scalp defects | C538225 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T843 | 0-17 | SpecificDisease | denotes | Knobloch syndrome | C537209 |
| T844 | 28-70 | DiseaseClass | denotes | midline scalp defect of the frontal region | C538225 |
| T845 | 107-124 | SpecificDisease | denotes | Knobloch syndrome | C537209 |
| T846 | 133-159 | SpecificDisease | denotes | vitreoretinal degeneration | D012162 |
| T847 | 161-172 | SpecificDisease | denotes | high myopia | D009216 |
| T848 | 174-182 | SpecificDisease | denotes | cataract | D002386 |
| T849 | 184-195 | SpecificDisease | denotes | telecanthus | D030342 |
| T850 | 197-210 | SpecificDisease | denotes | hypertelorism | D006972 |
| T851 | 218-236 | SpecificDisease | denotes | high-arched palate | D007569 |
| T852 | 252-288 | DiseaseClass | denotes | defect of the anterior midline scalp | C538225 |
| T853 | 630-651 | DiseaseClass | denotes | midline scalp defects | C538225 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 9-17 | SpecificDisease | denotes | syndrome |
| T2 | 116-124 | SpecificDisease | denotes | syndrome |
| T3 | 133-159 | SpecificDisease | denotes | vitreoretinal degeneration |
| T4 | 161-172 | SpecificDisease | denotes | high myopia |
| T5 | 174-182 | SpecificDisease | denotes | cataract |
| T6 | 496-504 | SpecificDisease | denotes | syndrome |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 9-17 | SpecificDisease | denotes | syndrome |
| T2 | 116-124 | SpecificDisease | denotes | syndrome |
| T3 | 496-504 | SpecificDisease | denotes | syndrome |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-17 | SpecificDisease | denotes | Knobloch syndrome |
| T2 | 107-124 | SpecificDisease | denotes | Knobloch syndrome |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-17 | SpecificDisease | denotes | Knobloch syndrome |
| T2 | 28-48 | Modifier | denotes | midline scalp defect |
| T3 | 56-70 | Modifier | denotes | frontal region |
| T4 | 107-124 | SpecificDisease | denotes | Knobloch syndrome |
| T5 | 133-159 | CompositeMention | denotes | vitreoretinal degeneration |
| T6 | 161-172 | Modifier | denotes | high myopia |
| T7 | 174-182 | SpecificDisease | denotes | cataract |
| T8 | 184-195 | Modifier | denotes | telecanthus |
| T9 | 197-210 | Modifier | denotes | hypertelorism |
| T10 | 218-236 | Modifier | denotes | high-arched palate |
| T11 | 266-288 | Modifier | denotes | anterior midline scalp |
| T12 | 313-325 | Modifier | denotes | frontal bone |
| T13 | 496-504 | SpecificDisease | denotes | syndrome |
| T14 | 630-651 | Modifier | denotes | midline scalp defects |