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PubMed:23956106 / 43-387 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T2 0-344 Sentence denotes Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance.
T2 0-344 Sentence denotes Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance.

sonoma2

Id Subject Object Predicate Lexical cue
T2 0-18 DISEASE denotes Achondrogenesis 1A
T3 0-18 GENE denotes Achondrogenesis 1A
T4 20-25 DISEASE denotes ACG1A
T5 20-25 GENE denotes ACG1A
T6 85-103 CPA denotes skeletal dysplasia
T7 85-103 DISEASE denotes skeletal dysplasia
T8 115-142 CPA denotes intrauterine growth failure
T9 115-142 DISEASE denotes intrauterine growth failure
T10 144-154 CPA denotes micromelia
T11 156-178 CPA denotes minor facial anomalies
T12 162-178 DISEASE denotes facial anomalies
T13 180-189 NEGREG denotes deficient
T14 190-202 CPA denotes ossification
T15 217-223 NEGREG denotes absent
T16 237-266 CPA denotes defective spinal ossification
T17 268-285 CPA denotes short beaded ribs
T18 291-316 CPA denotes short deformed long bones
T19 324-343 CPA denotes stellate appearance
R0 T2 T6 ThemeOf Achondrogenesis 1A,skeletal dysplasia
R1 T4 T6 ThemeOf ACG1A,skeletal dysplasia
R2 T8 T6 ThemeOf intrauterine growth failure,skeletal dysplasia
R3 T10 T6 ThemeOf micromelia,skeletal dysplasia
R4 T11 T6 ThemeOf minor facial anomalies,skeletal dysplasia
R5 T14 T6 ThemeOf ossification,skeletal dysplasia
R6 T16 T6 ThemeOf defective spinal ossification,skeletal dysplasia
R7 T17 T6 ThemeOf short beaded ribs,skeletal dysplasia
R8 T18 T6 ThemeOf short deformed long bones,skeletal dysplasia
R9 T19 T6 ThemeOf stellate appearance,skeletal dysplasia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 20-25 gene:9321 denotes ACG1A
T1 0-15 disease:C0001079 denotes Achondrogenesis
T2 20-25 gene:9321 denotes ACG1A
T3 85-103 disease:C0410528 denotes skeletal dysplasia
T4 20-25 gene:9321 denotes ACG1A
T5 128-142 disease:C0015544 denotes growth failure
T6 20-25 gene:9321 denotes ACG1A
T7 128-142 disease:C0878787 denotes growth failure
R1 T0 T1 associated_with ACG1A,Achondrogenesis
R2 T2 T3 associated_with ACG1A,skeletal dysplasia
R3 T4 T5 associated_with ACG1A,growth failure
R4 T6 T7 associated_with ACG1A,growth failure

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 46-65 HP_0000007 denotes autosomal recessive
T2 78-103 HP_0005716 denotes lethal skeletal dysplasia
T3 85-103 HP_0002652 denotes skeletal dysplasia
T4 115-142 HP_0001511 denotes intrauterine growth failure
T5 128-142 HP_0001510 denotes growth failure
T6 144-154 HP_0002983 denotes micromelia
T7 162-178 HP_0001999 denotes facial anomalies
T8 180-215 HP_0004331 denotes deficient ossification of the skull
T9 237-253 HP_0008443 denotes defective spinal
T10 274-285 HP_0000923 denotes beaded ribs

Allie

Id Subject Object Predicate Lexical cue
SS1_23956106_1_0 0-18 expanded denotes Achondrogenesis 1A
SS2_23956106_1_0 20-25 abbr denotes ACG1A
AE1_23956106_1_0 SS1_23956106_1_0 SS2_23956106_1_0 abbreviatedTo Achondrogenesis 1A,ACG1A

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23956106-1#20#25#gene9321 20-25 gene9321 denotes ACG1A
23956106-1#78#103#diseaseC4021626 78-103 diseaseC4021626 denotes lethal skeletal dysplasia
20#25#gene932178#103#diseaseC4021626 23956106-1#20#25#gene9321 23956106-1#78#103#diseaseC4021626 associated_with ACG1A,lethal skeletal dysplasia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 78-103 HP:0005716 denotes lethal skeletal dysplasia
AB2 144-154 HP:0002983 denotes micromelia
AB3 274-285 HP:0000923 denotes beaded ribs

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 0-15 ORDO:932 denotes Achondrogenesis

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 210-215 http://purl.obolibrary.org/obo/UBERON_0003129 denotes skull
PD-UBERON-AE-B_T2 281-285 http://purl.obolibrary.org/obo/UBERON_0002228 denotes ribs
PD-UBERON-AE-B_T3 306-316 http://purl.obolibrary.org/obo/UBERON_0002495 denotes long bones

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 210-215 http://purl.obolibrary.org/obo/UBERON_0003129 denotes skull
PD-UBERON-AE-B_T2 281-285 http://purl.obolibrary.org/obo/UBERON_0002228 denotes ribs
PD-UBERON-AE-B_T3 306-316 http://purl.obolibrary.org/obo/UBERON_0002495 denotes long bones