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PubMed:10465113 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 22-51 DiseaseOrPhenotypicFeature denotes multiple epiphyseal dysplasia 0016648
T2 73-82 DiseaseOrPhenotypicFeature denotes club foot 0007342
T3 191-212 DiseaseOrPhenotypicFeature denotes diastrophic dysplasia 0009107
T4 291-306 DiseaseOrPhenotypicFeature denotes achondrogenesis 0019648
T5 311-327 DiseaseOrPhenotypicFeature denotes atelosteogenesis 0000389
T6 335-356 DiseaseOrPhenotypicFeature denotes diastrophic dysplasia 0009107
T7 699-728 DiseaseOrPhenotypicFeature denotes multiple epiphyseal dysplasia 0016648
T8 749-758 DiseaseOrPhenotypicFeature denotes club foot 0007342
T9 820-849 DiseaseOrPhenotypicFeature denotes multiple epiphyseal dysplasia 0016648
T10 940-952 DiseaseOrPhenotypicFeature denotes Cleft palate 0007336|0016064
T12 1171-1177 DiseaseOrPhenotypicFeature denotes defect 0008568
T13 1323-1352 DiseaseOrPhenotypicFeature denotes Multiple epiphyseal dysplasia 0016648
T14 1414-1418 DiseaseOrPhenotypicFeature denotes EDM1 0007561
T15 1455-1459 DiseaseOrPhenotypicFeature denotes EDM2 0010844
T16 1624-1627 DiseaseOrPhenotypicFeature denotes MED 0016648
T17 1629-1633 DiseaseOrPhenotypicFeature denotes EDM4 0009189

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-138 Sentence denotes Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
TextSentencer_T2 139-357 Sentence denotes We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia.
TextSentencer_T3 358-513 Sentence denotes The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations.
TextSentencer_T4 514-729 Sentence denotes We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia.
TextSentencer_T5 730-786 Sentence denotes He was treated for club foot and hip dysplasia at birth.
TextSentencer_T6 787-939 Sentence denotes Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood.
TextSentencer_T7 940-1015 Sentence denotes Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent.
TextSentencer_T8 1016-1205 Sentence denotes He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders.
TextSentencer_T9 1206-1322 Sentence denotes Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring.
TextSentencer_T10 1323-1478 Sentence denotes Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204).
TextSentencer_T11 1479-1652 Sentence denotes A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900).
TextSentencer_T12 1653-1795 Sentence denotes This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.
T1 0-138 Sentence denotes Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
T2 139-357 Sentence denotes We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia.
T3 358-513 Sentence denotes The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations.
T4 514-729 Sentence denotes We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia.
T5 730-786 Sentence denotes He was treated for club foot and hip dysplasia at birth.
T6 787-939 Sentence denotes Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood.
T7 940-1015 Sentence denotes Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent.
T8 1016-1205 Sentence denotes He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders.
T9 1206-1322 Sentence denotes Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring.
T10 1323-1478 Sentence denotes Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204).
T11 1479-1652 Sentence denotes A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900).
T12 1653-1795 Sentence denotes This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 699-728 HP_0002654 denotes multiple epiphyseal dysplasia
T2 708-728 HP_0002656 denotes epiphyseal dysplasia
T3 749-758 HP_0001762 denotes club foot
T4 749-753 HP_0001217 denotes club
T5 763-776 HP_0001385 denotes hip dysplasia
T6 820-849 HP_0002654 denotes multiple epiphyseal dysplasia
T7 829-849 HP_0002656 denotes epiphyseal dysplasia
T8 940-952 HP_0000175 denotes Cleft palate
T9 1323-1352 HP_0002654 denotes Multiple epiphyseal dysplasia
T10 1332-1352 HP_0002656 denotes epiphyseal dysplasia
T11 1604-1623 HP_0000007 denotes autosomal recessive

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10465113-3#50#55#geners104893915 564-569 geners104893915 denotes R279W
10465113-3#185#214#diseaseC0026760 699-728 diseaseC0026760 denotes multiple epiphyseal dysplasia
50#55#geners104893915185#214#diseaseC0026760 10465113-3#50#55#geners104893915 10465113-3#185#214#diseaseC0026760 associated_with R279W,multiple epiphyseal dysplasia

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 22-51 HP:0002654 denotes multiple epiphyseal dysplasia
TI2 73-77 HP:0001217 denotes club
TI3 88-110 HP:0031174 denotes double layered patella
AB1 699-728 HP:0002654 denotes multiple epiphyseal dysplasia
AB2 749-753 HP:0001217 denotes club
AB3 763-776 HP:0001385 denotes hip dysplasia
AB4 820-849 HP:0002654 denotes multiple epiphyseal dysplasia
AB5 882-904 HP:0031174 denotes double layered patella
AB6 940-952 HP:0000175 denotes Cleft palate
AB7 1323-1352 HP:0002654 denotes Multiple epiphyseal dysplasia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 191-212 ORDO:628 denotes diastrophic dysplasia
AB2 291-306 ORDO:932 denotes achondrogenesis
AB3 335-356 ORDO:628 denotes diastrophic dysplasia
AB4 1414-1418 ORDO:93308 denotes EDM1
AB5 1629-1633 ORDO:93307 denotes EDM4

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 103-110 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella
PD-UBERON-AE-B_T2 897-904 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella
PD-UBERON-AE-B_T3 763-766 http://purl.obolibrary.org/obo/UBERON_0001464 denotes hip
PD-UBERON-AE-B_T4 970-973 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T5 974-979 http://purl.obolibrary.org/obo/UBERON_0001757 denotes pinna

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 103-110 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella
PD-UBERON-AE-B_T2 897-904 http://purl.obolibrary.org/obo/UBERON_0002446 denotes patella
PD-UBERON-AE-B_T3 763-766 http://purl.obolibrary.org/obo/UBERON_0001464 denotes hip
PD-UBERON-AE-B_T4 970-973 http://purl.obolibrary.org/obo/UBERON_0001690 denotes ear
PD-UBERON-AE-B_T5 974-979 http://purl.obolibrary.org/obo/UBERON_0001757 denotes pinna

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 22-51 SpecificDisease:D010009 denotes multiple epiphyseal dysplasia
T2 73-82 SpecificDisease:D003025 denotes club foot
T3 88-110 DiseaseClass:C535504 denotes double layered patella
T4 191-212 Modifier:C536170 denotes diastrophic dysplasia
T5 271-290 DiseaseClass:D030342 denotes recessive disorders
T6 291-309 SpecificDisease:C536016 denotes achondrogenesis 1B
T7 311-329 SpecificDisease:C535395 denotes atelosteogenesis 2
T8 335-356 SpecificDisease:C536170 denotes diastrophic dysplasia
T9 699-728 SpecificDisease:D010009 denotes multiple epiphyseal dysplasia
T10 749-758 SpecificDisease:D003025 denotes club foot
T11 763-776 SpecificDisease:D006618 denotes hip dysplasia
T12 820-849 SpecificDisease:D010009 denotes multiple epiphyseal dysplasia
T13 882-904 DiseaseClass:C535504 denotes double layered patella
T14 940-952 SpecificDisease:D002972 denotes Cleft palate
T15 954-979 DiseaseClass:D004427 denotes swelling of the ear pinna
T16 985-1002 DiseaseClass:C536903 denotes hitch hiker thumb
T17 1189-1204 SpecificDisease:D030342 denotes DTDST disorders
T18 1234-1252 DiseaseClass:D030342 denotes recessive disorder
T19 1323-1352 SpecificDisease:D010009 denotes Multiple epiphyseal dysplasia
T20 1414-1418 SpecificDisease:OMIM:132400 denotes EDM1
T21 1455-1459 SpecificDisease:OMIM:600204 denotes EDM2
T22 1624-1627 SpecificDisease:D010009 denotes MED
T23 1629-1633 SpecificDisease:OMIM:226900 denotes EDM4

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T1234 22-51 SpecificDisease denotes multiple epiphyseal dysplasia D010009
T1235 73-82 SpecificDisease denotes club foot D003025
T1236 88-110 DiseaseClass denotes double layered patella C535504
T1237 191-212 Modifier denotes diastrophic dysplasia C536170
T1238 271-290 DiseaseClass denotes recessive disorders D030342
T1239 291-309 SpecificDisease denotes achondrogenesis 1B C536016
T1240 311-329 SpecificDisease denotes atelosteogenesis 2 C535395
T1241 335-356 SpecificDisease denotes diastrophic dysplasia C536170
T1242 699-728 SpecificDisease denotes multiple epiphyseal dysplasia D010009
T1243 749-758 SpecificDisease denotes club foot D003025
T1244 763-776 SpecificDisease denotes hip dysplasia D006618
T1245 820-849 SpecificDisease denotes multiple epiphyseal dysplasia D010009
T1246 882-904 DiseaseClass denotes double layered patella C535504
T1247 940-952 SpecificDisease denotes Cleft palate D002972
T1248 954-979 DiseaseClass denotes swelling of the ear pinna D004427
T1249 985-1002 DiseaseClass denotes hitch hiker thumb C536903
T1250 1189-1204 SpecificDisease denotes DTDST disorders D030342
T1251 1234-1252 DiseaseClass denotes recessive disorder D030342
T1252 1323-1352 SpecificDisease denotes Multiple epiphyseal dysplasia D010009
T1253 1414-1418 SpecificDisease denotes EDM1 OMIM:132400
T1254 1455-1459 SpecificDisease denotes EDM2 OMIM:600204
T1255 1624-1627 SpecificDisease denotes MED D010009
T1256 1629-1633 SpecificDisease denotes EDM4 OMIM:226900

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T1234 22-51 SpecificDisease denotes multiple epiphyseal dysplasia D010009
T1235 73-82 SpecificDisease denotes club foot D003025
T1236 88-110 DiseaseClass denotes double layered patella C535504
T1237 191-212 Modifier denotes diastrophic dysplasia C536170
T1238 271-290 DiseaseClass denotes recessive disorders D030342
T1239 291-309 SpecificDisease denotes achondrogenesis 1B C536016
T1240 311-329 SpecificDisease denotes atelosteogenesis 2 C535395
T1241 335-356 SpecificDisease denotes diastrophic dysplasia C536170
T1242 699-728 SpecificDisease denotes multiple epiphyseal dysplasia D010009
T1243 749-758 SpecificDisease denotes club foot D003025
T1244 763-776 SpecificDisease denotes hip dysplasia D006618
T1245 820-849 SpecificDisease denotes multiple epiphyseal dysplasia D010009
T1246 882-904 DiseaseClass denotes double layered patella C535504
T1247 940-952 SpecificDisease denotes Cleft palate D002972
T1248 954-979 DiseaseClass denotes swelling of the ear pinna D004427
T1249 985-1002 DiseaseClass denotes hitch hiker thumb C536903
T1250 1189-1204 SpecificDisease denotes DTDST disorders D030342
T1251 1234-1252 DiseaseClass denotes recessive disorder D030342
T1252 1323-1352 SpecificDisease denotes Multiple epiphyseal dysplasia D010009
T1253 1414-1418 SpecificDisease denotes EDM1 OMIM:132400
T1254 1455-1459 SpecificDisease denotes EDM2 OMIM:600204
T1255 1624-1627 SpecificDisease denotes MED D010009
T1256 1629-1633 SpecificDisease denotes EDM4 OMIM:226900

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 22-51 SpecificDisease denotes multiple epiphyseal dysplasia
T2 73-82 SpecificDisease denotes club foot
T3 291-309 SpecificDisease denotes achondrogenesis 1B
T4 311-329 SpecificDisease denotes atelosteogenesis 2
T5 335-356 SpecificDisease denotes diastrophic dysplasia
T6 699-728 SpecificDisease denotes multiple epiphyseal dysplasia
T7 749-758 SpecificDisease denotes club foot
T8 763-776 SpecificDisease denotes hip dysplasia
T9 820-849 SpecificDisease denotes multiple epiphyseal dysplasia
T10 1323-1352 SpecificDisease denotes Multiple epiphyseal dysplasia
T11 1624-1627 SpecificDisease denotes MED

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 22-51 SpecificDisease denotes multiple epiphyseal dysplasia
T2 73-82 SpecificDisease denotes club foot
T3 291-309 DiseaseClass denotes achondrogenesis 1B
T4 311-329 DiseaseClass denotes atelosteogenesis 2
T5 335-356 DiseaseClass denotes diastrophic dysplasia
T6 699-728 SpecificDisease denotes multiple epiphyseal dysplasia
T7 749-758 SpecificDisease denotes club foot
T8 763-776 SpecificDisease denotes hip dysplasia
T9 820-849 SpecificDisease denotes multiple epiphyseal dysplasia
T10 1323-1352 SpecificDisease denotes Multiple epiphyseal dysplasia
T11 1624-1627 Modifier denotes MED

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 22-51 SpecificDisease denotes multiple epiphyseal dysplasia
T2 73-82 SpecificDisease denotes club foot
T3 88-110 SpecificDisease denotes double layered patella
T4 291-356 CompositeMention denotes achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia
T5 699-728 SpecificDisease denotes multiple epiphyseal dysplasia
T6 749-758 SpecificDisease denotes club foot
T7 763-776 SpecificDisease denotes hip dysplasia
T8 820-849 SpecificDisease denotes multiple epiphyseal dysplasia
T9 882-904 SpecificDisease denotes double layered patella
T10 1234-1252 DiseaseClass denotes recessive disorder
T11 1323-1352 SpecificDisease denotes Multiple epiphyseal dysplasia
T12 1604-1627 DiseaseClass denotes autosomal recessive MED

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 22-51 SpecificDisease denotes multiple epiphyseal dysplasia
T2 57-71 Modifier denotes normal stature
T3 73-82 SpecificDisease denotes club foot
T4 88-110 Modifier denotes double layered patella
T5 191-212 SpecificDisease denotes diastrophic dysplasia
T6 291-309 SpecificDisease denotes achondrogenesis 1B
T7 311-329 SpecificDisease denotes atelosteogenesis 2
T8 335-356 SpecificDisease denotes diastrophic dysplasia
T9 622-641 Modifier denotes tall-normal stature
T10 699-728 SpecificDisease denotes multiple epiphyseal dysplasia
T11 749-758 SpecificDisease denotes club foot
T12 763-776 SpecificDisease denotes hip dysplasia
T13 820-849 SpecificDisease denotes multiple epiphyseal dysplasia
T14 882-904 Modifier denotes double layered patella
T15 940-952 Modifier denotes Cleft palate
T16 1323-1352 SpecificDisease denotes Multiple epiphyseal dysplasia
T17 1604-1627 CompositeMention denotes autosomal recessive MED