PubMed:8301658
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-36 | Sentence | denotes | X linked recessive thrombocytopenia. |
| TextSentencer_T2 | 37-226 | Sentence | denotes | A Saudi Arab boy presented in early childhood with thrombocytopenia, morphologically large and normal sized platelets, increased mean platelet volume, and a hypermegakaryocytic bone marrow. |
| TextSentencer_T3 | 227-320 | Sentence | denotes | There was no clinical and laboratory evidence of any significant immunological abnormalities. |
| TextSentencer_T4 | 321-461 | Sentence | denotes | Similar findings in two other brothers suggested strongly that they were all suffering from an X linked recessive thrombocytopenic disorder. |
| TextSentencer_T5 | 462-688 | Sentence | denotes | Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott-Aldrich syndrome (WAS). |
| TextSentencer_T6 | 689-1003 | Sentence | denotes | Because of various features which include the presence of large and normal sized platelets (rather than small platelets) and freedom from significant immune deficiencies, it is likely that the X linked recessive thrombocytopenia in this family is an isolated entity quite distinct from the classical WAS phenotype. |
| TextSentencer_T7 | 1004-1115 | Sentence | denotes | However, a modified expression of the WAS gene producing a mild phenotypic variant cannot be excluded entirely. |
| T1 | 0-36 | Sentence | denotes | X linked recessive thrombocytopenia. |
| T2 | 37-226 | Sentence | denotes | A Saudi Arab boy presented in early childhood with thrombocytopenia, morphologically large and normal sized platelets, increased mean platelet volume, and a hypermegakaryocytic bone marrow. |
| T3 | 227-320 | Sentence | denotes | There was no clinical and laboratory evidence of any significant immunological abnormalities. |
| T4 | 321-461 | Sentence | denotes | Similar findings in two other brothers suggested strongly that they were all suffering from an X linked recessive thrombocytopenic disorder. |
| T5 | 462-688 | Sentence | denotes | Results of DNA analysis with the probe M27 beta are consistent with X linkage and indicate also that the locus of the relevant gene lies close to or is identical to the locus of the gene for the Wiskott-Aldrich syndrome (WAS). |
| T6 | 689-1003 | Sentence | denotes | Because of various features which include the presence of large and normal sized platelets (rather than small platelets) and freedom from significant immune deficiencies, it is likely that the X linked recessive thrombocytopenia in this family is an isolated entity quite distinct from the classical WAS phenotype. |
| T7 | 1004-1115 | Sentence | denotes | However, a modified expression of the WAS gene producing a mild phenotypic variant cannot be excluded entirely. |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 214-225 | http://purl.obolibrary.org/obo/UBERON_0002371 | denotes | bone marrow |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 19-35 | HP:0001873 | denotes | thrombocytopenia |
| AB1 | 88-104 | HP:0001873 | denotes | thrombocytopenia |
| AB2 | 156-186 | HP:0011877 | denotes | increased mean platelet volume |
| AB3 | 901-917 | HP:0001873 | denotes | thrombocytopenia |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 657-681 | ORDO:906 | denotes | Wiskott-Aldrich syndrome |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 214-225 | http://purl.obolibrary.org/obo/UBERON_0002371 | denotes | bone marrow |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | SpecificDisease:OMIM:313900 | denotes | X linked recessive thrombocytopenia |
| T2 | 88-104 | SpecificDisease:D013921 | denotes | thrombocytopenia |
| T3 | 292-319 | DiseaseClass:D007154 | denotes | immunological abnormalities |
| T4 | 416-460 | SpecificDisease:OMIM:313900 | denotes | X linked recessive thrombocytopenic disorder |
| T5 | 657-681 | SpecificDisease:D014923 | denotes | Wiskott-Aldrich syndrome |
| T6 | 683-686 | SpecificDisease:D014923 | denotes | WAS |
| T7 | 839-858 | DiseaseClass:D007154 | denotes | immune deficiencies |
| T8 | 882-917 | SpecificDisease:OMIM:313900 | denotes | X linked recessive thrombocytopenia |
| T9 | 989-992 | Modifier:D014923 | denotes | WAS |
| T10 | 1042-1045 | Modifier:D014923 | denotes | WAS |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4753 | 0-35 | SpecificDisease | denotes | X linked recessive thrombocytopenia | OMIM:313900 |
| T4754 | 88-104 | SpecificDisease | denotes | thrombocytopenia | D013921 |
| T4755 | 292-319 | DiseaseClass | denotes | immunological abnormalities | D007154 |
| T4756 | 416-460 | SpecificDisease | denotes | X linked recessive thrombocytopenic disorder | OMIM:313900 |
| T4757 | 657-681 | SpecificDisease | denotes | Wiskott-Aldrich syndrome | D014923 |
| T4758 | 683-686 | SpecificDisease | denotes | WAS | D014923 |
| T4759 | 839-858 | DiseaseClass | denotes | immune deficiencies | D007154 |
| T4760 | 882-917 | SpecificDisease | denotes | X linked recessive thrombocytopenia | OMIM:313900 |
| T4761 | 989-992 | Modifier | denotes | WAS | D014923 |
| T4762 | 1042-1045 | Modifier | denotes | WAS | D014923 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4753 | 0-35 | SpecificDisease | denotes | X linked recessive thrombocytopenia | OMIM:313900 |
| T4754 | 88-104 | SpecificDisease | denotes | thrombocytopenia | D013921 |
| T4755 | 292-319 | DiseaseClass | denotes | immunological abnormalities | D007154 |
| T4756 | 416-460 | SpecificDisease | denotes | X linked recessive thrombocytopenic disorder | OMIM:313900 |
| T4757 | 657-681 | SpecificDisease | denotes | Wiskott-Aldrich syndrome | D014923 |
| T4758 | 683-686 | SpecificDisease | denotes | WAS | D014923 |
| T4759 | 839-858 | DiseaseClass | denotes | immune deficiencies | D007154 |
| T4760 | 882-917 | SpecificDisease | denotes | X linked recessive thrombocytopenia | OMIM:313900 |
| T4761 | 989-992 | Modifier | denotes | WAS | D014923 |
| T4762 | 1042-1045 | Modifier | denotes | WAS | D014923 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 19-35 | DiseaseClass | denotes | thrombocytopenia |
| T2 | 88-104 | SpecificDisease | denotes | thrombocytopenia |
| T3 | 435-460 | DiseaseClass | denotes | thrombocytopenic disorder |
| T4 | 657-681 | SpecificDisease | denotes | Wiskott-Aldrich syndrome |
| T5 | 683-686 | SpecificDisease | denotes | WAS |
| T6 | 901-917 | DiseaseClass | denotes | thrombocytopenia |
| T7 | 989-992 | SpecificDisease | denotes | WAS |
| T8 | 1042-1045 | SpecificDisease | denotes | WAS |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 19-35 | DiseaseClass | denotes | thrombocytopenia |
| T2 | 88-104 | SpecificDisease | denotes | thrombocytopenia |
| T3 | 657-681 | SpecificDisease | denotes | Wiskott-Aldrich syndrome |
| T4 | 683-686 | SpecificDisease | denotes | WAS |
| T5 | 901-917 | DiseaseClass | denotes | thrombocytopenia |
| T6 | 989-1002 | Modifier | denotes | WAS phenotype |
| T7 | 1042-1045 | Modifier | denotes | WAS |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | SpecificDisease | denotes | X linked recessive thrombocytopenia |
| T2 | 88-104 | SpecificDisease | denotes | thrombocytopenia |
| T3 | 416-460 | DiseaseClass | denotes | X linked recessive thrombocytopenic disorder |
| T4 | 657-681 | SpecificDisease | denotes | Wiskott-Aldrich syndrome |
| T5 | 882-917 | Modifier | denotes | X linked recessive thrombocytopenia |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | SpecificDisease | denotes | X linked recessive thrombocytopenia |
| T2 | 88-104 | SpecificDisease | denotes | thrombocytopenia |
| T3 | 292-319 | DiseaseClass | denotes | immunological abnormalities |
| T4 | 416-460 | CompositeMention | denotes | X linked recessive thrombocytopenic disorder |
| T5 | 657-687 | SpecificDisease | denotes | Wiskott-Aldrich syndrome (WAS) |
| T6 | 839-858 | DiseaseClass | denotes | immune deficiencies |
| T7 | 882-917 | SpecificDisease | denotes | X linked recessive thrombocytopenia |
| T8 | 989-1002 | SpecificDisease | denotes | WAS phenotype |
| T9 | 1015-1034 | Modifier | denotes | modified expression |
| T10 | 1042-1086 | SpecificDisease | denotes | WAS gene producing a mild phenotypic variant |