0
dict | 1
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0
| 2
dict |
|---|---|---|
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal7",
"label": "46,XY sex reversal 7",
"logical_definition": null,
"original_id": "MONDO:0009301",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "DHH"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 7 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'DHH'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal9",
"label": "46,XY sex reversal 9",
"logical_definition": null,
"original_id": "MONDO:0014480",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ZFPM2"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
},
{
"predicate": "subClassOf",
"target": "46XYPartialGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 9 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ZFPM2'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}, {'predicate': 'subClassOf', 'target': '46XYPartialGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XxSexReversal5",
"label": "46,xx sex reversal 5",
"logical_definition": null,
"original_id": "MONDO:0030049",
"relationships": [
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
}
]
} | 0 | {
"document": "46,xx sex reversal 5 None [{'predicate': 'subClassOf', 'target': 'HereditaryDisease'}]"
} |
{
"aliases": null,
"definition": "Middle aged stage that refers to an adult who is over 46 and under 47.",
"id": "46YearOldHumanStage",
"label": "46-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000140",
"relationships": [
{
"predicate": "PartOf",
"target": "HumanMiddleAgedStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "45YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "46-year-old human stage Middle aged stage that refers to an adult who is over 46 and under 47. [{'predicate': 'PartOf', 'target': 'HumanMiddleAgedStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '45YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.",
"id": "47XYYSyndrome",
"label": "47,XYY syndrome",
"logical_definition": null,
"original_id": "MONDO:0019339",
"relationships": [
{
"predicate": "subClassOf",
"target": "ChromosomeYDisorder"
},
{
"predicate": "subClassOf",
"target": "Trisomy"
}
]
} | 0 | {
"document": "47,XYY syndrome 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. [{'predicate': 'subClassOf', 'target': 'ChromosomeYDisorder'}, {'predicate': 'subClassOf', 'target': 'Trisomy'}]"
} |
{
"aliases": null,
"definition": "Middle aged stage that refers to an adult who is over 47 and under 48.",
"id": "47YearOldHumanStage",
"label": "47-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000141",
"relationships": [
{
"predicate": "PartOf",
"target": "HumanMiddleAgedStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "46YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "47-year-old human stage Middle aged stage that refers to an adult who is over 47 and under 48. [{'predicate': 'PartOf', 'target': 'HumanMiddleAgedStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '46YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.",
"id": "48XXXYSyndrome",
"label": "48,XXXY syndrome",
"logical_definition": null,
"original_id": "MONDO:0019928",
"relationships": [
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "SyndromicUrogenitalTractMalformation"
},
{
"predicate": "subClassOf",
"target": "SexChromosomeDisorderOfSexDevelopment"
},
{
"predicate": "subClassOf",
"target": "Tetrasomy"
},
{
"predicate": "subClassOf",
"target": "ChromosomeXDisorder"
}
]
} | 0 | {
"document": "48,XXXY syndrome The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. [{'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': 'SyndromicUrogenitalTractMalformation'}, {'predicate': 'subClassOf', 'target': 'SexChromosomeDisorderOfSexDevelopment'}, {'predicate': 'subClassOf', 'target': 'Tetrasomy'}, {'predicate': 'subClassOf', 'target': 'ChromosomeXDisorder'}]"
} |
{
"aliases": null,
"definition": "The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.",
"id": "48XXYYSyndrome",
"label": "48,XXYY syndrome",
"logical_definition": null,
"original_id": "MONDO:0015028",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicUrogenitalTractMalformation"
},
{
"predicate": "subClassOf",
"target": "SexChromosomeDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "48,XXYY syndrome The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. [{'predicate': 'subClassOf', 'target': 'SyndromicUrogenitalTractMalformation'}, {'predicate': 'subClassOf', 'target': 'SexChromosomeDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.",
"id": "48XYYYSyndrome",
"label": "48,XYYY syndrome",
"logical_definition": null,
"original_id": "MONDO:0020469",
"relationships": [
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "SyndromicUrogenitalTractMalformation"
},
{
"predicate": "subClassOf",
"target": "Tetrasomy"
},
{
"predicate": "subClassOf",
"target": "ChromosomeYDisorder"
}
]
} | 0 | {
"document": "48,XYYY syndrome 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. [{'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': 'SyndromicUrogenitalTractMalformation'}, {'predicate': 'subClassOf', 'target': 'Tetrasomy'}, {'predicate': 'subClassOf', 'target': 'ChromosomeYDisorder'}]"
} |
{
"aliases": null,
"definition": "Middle aged stage that refers to an adult who is over 48 and under 49.",
"id": "48YearOldHumanStage",
"label": "48-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000142",
"relationships": [
{
"predicate": "PartOf",
"target": "HumanMiddleAgedStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "47YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "48-year-old human stage Middle aged stage that refers to an adult who is over 48 and under 49. [{'predicate': 'PartOf', 'target': 'HumanMiddleAgedStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '47YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.",
"id": "49XXXXYSyndrome",
"label": "49,XXXXY syndrome",
"logical_definition": null,
"original_id": "MONDO:0019929",
"relationships": [
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "SyndromicUrogenitalTractMalformation"
},
{
"predicate": "subClassOf",
"target": "SexChromosomeDisorderOfSexDevelopment"
},
{
"predicate": "subClassOf",
"target": "ChromosomeXDisorder"
},
{
"predicate": "subClassOf",
"target": "Pentasomy"
}
]
} | 0 | {
"document": "49,XXXXY syndrome The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. [{'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': 'SyndromicUrogenitalTractMalformation'}, {'predicate': 'subClassOf', 'target': 'SexChromosomeDisorderOfSexDevelopment'}, {'predicate': 'subClassOf', 'target': 'ChromosomeXDisorder'}, {'predicate': 'subClassOf', 'target': 'Pentasomy'}]"
} |
{
"aliases": null,
"definition": "49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.",
"id": "49XXXYYSyndrome",
"label": "49,XXXYY syndrome",
"logical_definition": null,
"original_id": "MONDO:0016854",
"relationships": [
{
"predicate": "subClassOf",
"target": "ChromosomeXDisorder"
},
{
"predicate": "subClassOf",
"target": "ChromosomeYDisorder"
},
{
"predicate": "subClassOf",
"target": "Aneuploidy"
}
]
} | 0 | {
"document": "49,XXXYY syndrome 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person. [{'predicate': 'subClassOf', 'target': 'ChromosomeXDisorder'}, {'predicate': 'subClassOf', 'target': 'ChromosomeYDisorder'}, {'predicate': 'subClassOf', 'target': 'Aneuploidy'}]"
} |
{
"aliases": null,
"definition": "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.",
"id": "49XYYYYSyndrome",
"label": "49,XYYYY syndrome",
"logical_definition": null,
"original_id": "MONDO:0020470",
"relationships": [
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeWithoutIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "ChromosomeYDisorder"
},
{
"predicate": "subClassOf",
"target": "Pentasomy"
}
]
} | 0 | {
"document": "49,XYYYY syndrome 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. [{'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeWithoutIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'ChromosomeYDisorder'}, {'predicate': 'subClassOf', 'target': 'Pentasomy'}]"
} |
{
"aliases": null,
"definition": "Middle aged stage that refers to an adult who is over 49 and under 50.",
"id": "49YearOldHumanStage",
"label": "49-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000143",
"relationships": [
{
"predicate": "PartOf",
"target": "HumanMiddleAgedStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "48YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "49-year-old human stage Middle aged stage that refers to an adult who is over 49 and under 50. [{'predicate': 'PartOf', 'target': 'HumanMiddleAgedStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '48YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid.",
"id": "4AminobutyrateTransaminaseActivity",
"label": "4-aminobutyrate transaminase activity",
"logical_definition": null,
"original_id": "GO:0003867",
"relationships": [
{
"predicate": "subClassOf",
"target": "TransaminaseActivity"
}
]
} | 0 | {
"document": "4-aminobutyrate transaminase activity Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid. [{'predicate': 'subClassOf', 'target': 'TransaminaseActivity'}]"
} |
{
"aliases": null,
"definition": "An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group.",
"id": "4Aminophenol",
"label": "4-aminophenol",
"logical_definition": null,
"original_id": "CHEBI:17602",
"relationships": [
{
"predicate": "HasRole",
"target": "Metabolite"
},
{
"predicate": "HasRole",
"target": "Allergen"
},
{
"predicate": "subClassOf",
"target": "Aminophenol"
}
]
} | 0 | {
"document": "4-aminophenol An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group. [{'predicate': 'HasRole', 'target': 'Metabolite'}, {'predicate': 'HasRole', 'target': 'Allergen'}, {'predicate': 'subClassOf', 'target': 'Aminophenol'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4HydroxybenzylGroup",
"label": "4-hydroxybenzyl group",
"logical_definition": null,
"original_id": "CHEBI:50336",
"relationships": [
{
"predicate": "subClassOf",
"target": "ProteinogenicAminoAcidSideChainGroup"
}
]
} | 0 | {
"document": "4-hydroxybenzyl group None [{'predicate': 'subClassOf', 'target': 'ProteinogenicAminoAcidSideChainGroup'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4HydroxyphenylaceticAciduria",
"label": "4-hydroxyphenylacetic aciduria",
"logical_definition": null,
"original_id": "MONDO:0022330",
"relationships": [
{
"predicate": "subClassOf",
"target": "IntestinalDisorder"
},
{
"predicate": "subClassOf",
"target": "InbornErrorsOfMetabolism"
}
]
} | 0 | {
"document": "4-hydroxyphenylacetic aciduria None [{'predicate': 'subClassOf', 'target': 'IntestinalDisorder'}, {'predicate': 'subClassOf', 'target': 'InbornErrorsOfMetabolism'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 4 and under 5 years old.",
"id": "4YearOldHumanStage",
"label": "4-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000098",
"relationships": [
{
"predicate": "PartOf",
"target": "25YearOldChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "3YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "4-year-old human stage Child stage that refers to a child who is over 4 and under 5 years old. [{'predicate': 'PartOf', 'target': '25YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '3YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.",
"id": "4p163MicroduplicationSyndrome",
"label": "4p16.3 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0019873",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "4p163_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheShortArmOfChromosome4"
},
{
"predicate": "subClassOf",
"target": "OvergrowthSyndrome"
}
]
} | 0 | {
"document": "4p16.3 microduplication syndrome 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. [{'predicate': 'DiseaseArisesFromStructure', 'target': '4p163_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome4'}, {'predicate': 'subClassOf', 'target': 'OvergrowthSyndrome'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4p163_Human_",
"label": "4p16.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4p16.3",
"relationships": [
{
"predicate": "PartOf",
"target": "4p16_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4p16.3 (Human) None [{'predicate': 'PartOf', 'target': '4p16_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4p16_Human_",
"label": "4p16 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4p16",
"relationships": [
{
"predicate": "PartOf",
"target": "4p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4p16 (Human) None [{'predicate': 'PartOf', 'target': '4p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4p1_Human_",
"label": "4p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4p1",
"relationships": [
{
"predicate": "PartOf",
"target": "4p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4p1 (Human) None [{'predicate': 'PartOf', 'target': '4p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4p_Human_",
"label": "4p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome4_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome4_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4q21_Human_",
"label": "4q21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4q21",
"relationships": [
{
"predicate": "PartOf",
"target": "4q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4q21 (Human) None [{'predicate': 'PartOf', 'target': '4q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4q25ProximalDeletionSyndrome",
"label": "4q25 proximal deletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0044717",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "4q25_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeVariableIntellectualDisabilitySyndrome"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome4"
}
]
} | 0 | {
"document": "4q25 proximal deletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '4q25_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeVariableIntellectualDisabilitySyndrome'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome4'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4q25_Human_",
"label": "4q25 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4q25",
"relationships": [
{
"predicate": "PartOf",
"target": "4q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4q25 (Human) None [{'predicate': 'PartOf', 'target': '4q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4q2_Human_",
"label": "4q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4q2",
"relationships": [
{
"predicate": "PartOf",
"target": "4q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4q2 (Human) None [{'predicate': 'PartOf', 'target': '4q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4q_Human_",
"label": "4q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr4q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome4_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "4q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome4_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4thArchEctoderm",
"label": "4th arch ectoderm",
"logical_definition": null,
"original_id": "UBERON:0005662",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch4"
},
{
"predicate": "subClassOf",
"target": "Ectoderm"
}
]
} | 0 | {
"document": "4th arch ectoderm None [{'predicate': 'PartOf', 'target': 'PharyngealArch4'}, {'predicate': 'subClassOf', 'target': 'Ectoderm'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4thArchEndoderm",
"label": "4th arch endoderm",
"logical_definition": null,
"original_id": "UBERON:0005666",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch4"
},
{
"predicate": "subClassOf",
"target": "Endoderm"
}
]
} | 0 | {
"document": "4th arch endoderm None [{'predicate': 'PartOf', 'target': 'PharyngealArch4'}, {'predicate': 'subClassOf', 'target': 'Endoderm'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4thArchMesenchyme",
"label": "4th arch mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0005691",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch4"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymalRegion"
}
]
} | 0 | {
"document": "4th arch mesenchyme None [{'predicate': 'PartOf', 'target': 'PharyngealArch4'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4thArchMesenchymeFromHeadMesenchyme",
"label": "4th arch mesenchyme from head mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010345",
"relationships": [
{
"predicate": "PartOf",
"target": "4thArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "4thArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "HeadMesenchymeFromMesoderm"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromHeadMesenchyme"
}
]
} | 0 | {
"document": "4th arch mesenchyme from head mesenchyme None [{'predicate': 'PartOf', 'target': '4thArchMesenchyme'}, {'predicate': 'subClassOf', 'target': '4thArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'HeadMesenchymeFromMesoderm'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromHeadMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4thArchMesenchymeFromNeuralCrest",
"label": "4th arch mesenchyme from neural crest",
"logical_definition": null,
"original_id": "UBERON:0010256",
"relationships": [
{
"predicate": "PartOf",
"target": "4thArchMesenchyme"
},
{
"predicate": "PartOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "4thArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromNeuralCrest"
}
]
} | 0 | {
"document": "4th arch mesenchyme from neural crest None [{'predicate': 'PartOf', 'target': '4thArchMesenchyme'}, {'predicate': 'PartOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'subClassOf', 'target': '4thArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromNeuralCrest'}]"
} |
{
"aliases": null,
"definition": null,
"id": "4thArchPharyngealCleft",
"label": "4th arch pharyngeal cleft",
"logical_definition": null,
"original_id": "UBERON:0005875",
"relationships": [
{
"predicate": "Overlaps",
"target": "PharyngealArch4"
},
{
"predicate": "Overlaps",
"target": "PharyngealArch5"
},
{
"predicate": "subClassOf",
"target": "PharyngealCleft"
}
]
} | 0 | {
"document": "4th arch pharyngeal cleft None [{'predicate': 'Overlaps', 'target': 'PharyngealArch4'}, {'predicate': 'Overlaps', 'target': 'PharyngealArch5'}, {'predicate': 'subClassOf', 'target': 'PharyngealCleft'}]"
} |
{
"aliases": null,
"definition": "Middle aged stage that refers to an adult who is over 50 and under 51.",
"id": "50YearOldHumanStage",
"label": "50-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000144",
"relationships": [
{
"predicate": "PartOf",
"target": "HumanMiddleAgedStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "49YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "Occurrent"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "50-year-old human stage Middle aged stage that refers to an adult who is over 50 and under 51. [{'predicate': 'PartOf', 'target': 'HumanMiddleAgedStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '49YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'Occurrent'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5678Tetrahydrobiopterin",
"label": "5,6,7,8-tetrahydrobiopterin",
"logical_definition": null,
"original_id": "CHEBI:15372",
"relationships": [
{
"predicate": "HasRole",
"target": "Coenzyme"
},
{
"predicate": "HasRole",
"target": "ProstheticGroup"
},
{
"predicate": "HasRole",
"target": "Nutraceutical"
},
{
"predicate": "HasRole",
"target": "HumanMetabolite"
},
{
"predicate": "subClassOf",
"target": "Biopterins"
},
{
"predicate": "subClassOf",
"target": "Diol"
},
{
"predicate": "subClassOf",
"target": "Tetrahydropterin"
}
]
} | 0 | {
"document": "5,6,7,8-tetrahydrobiopterin None [{'predicate': 'HasRole', 'target': 'Coenzyme'}, {'predicate': 'HasRole', 'target': 'ProstheticGroup'}, {'predicate': 'HasRole', 'target': 'Nutraceutical'}, {'predicate': 'HasRole', 'target': 'HumanMetabolite'}, {'predicate': 'subClassOf', 'target': 'Biopterins'}, {'predicate': 'subClassOf', 'target': 'Diol'}, {'predicate': 'subClassOf', 'target': 'Tetrahydropterin'}]"
} |
{
"aliases": null,
"definition": "5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.",
"id": "5FluorouracilPoisoning",
"label": "5-fluorouracil poisoning",
"logical_definition": null,
"original_id": "MONDO:0016312",
"relationships": [
{
"predicate": "subClassOf",
"target": "ChemotherapyInducedToxicity"
}
]
} | 0 | {
"document": "5-fluorouracil poisoning 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men. [{'predicate': 'subClassOf', 'target': 'ChemotherapyInducedToxicity'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5FluorouracilToxicity",
"label": "5-fluorouracil toxicity",
"logical_definition": null,
"original_id": "MONDO:0027652",
"relationships": [
{
"predicate": "subClassOf",
"target": "ChemotherapyInducedToxicity"
}
]
} | 0 | {
"document": "5-fluorouracil toxicity None [{'predicate': 'subClassOf', 'target': 'ChemotherapyInducedToxicity'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5HydroxytryptamineOxygenaseRegulator",
"label": "5-hydroxytryptamine oxygenase regulator",
"logical_definition": null,
"original_id": "MONDO:0007742",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "HTOR"
},
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
}
]
} | 0 | {
"document": "5-hydroxytryptamine oxygenase regulator None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HTOR'}, {'predicate': 'subClassOf', 'target': 'HereditaryDisease'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5NucleotidaseSyndrome",
"label": "5-nucleotidase syndrome",
"logical_definition": null,
"original_id": "MONDO:0022333",
"relationships": [
{
"predicate": "subClassOf",
"target": "InbornErrorsOfMetabolism"
}
]
} | 0 | {
"document": "5-nucleotidase syndrome None [{'predicate': 'subClassOf', 'target': 'InbornErrorsOfMetabolism'}]"
} |
{
"aliases": null,
"definition": "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.",
"id": "5OxoprolinaseDeficiency",
"label": "5-oxoprolinase deficiency",
"logical_definition": null,
"original_id": "MONDO:0009825",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "OPLAH"
},
{
"predicate": "DiseaseHasBasisInDisruptionOf",
"target": "5Oxoprolinase_ATPHydrolyzing_activity"
},
{
"predicate": "subClassOf",
"target": "InheritedGlutathioneMetabolismDisease"
}
]
} | 0 | {
"document": "5-oxoprolinase deficiency 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'OPLAH'}, {'predicate': 'DiseaseHasBasisInDisruptionOf', 'target': '5Oxoprolinase_ATPHydrolyzing_activity'}, {'predicate': 'subClassOf', 'target': 'InheritedGlutathioneMetabolismDisease'}]"
} |
{
"aliases": null,
"definition": "Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.",
"id": "5Oxoprolinase_ATPHydrolyzing_activity",
"label": "5-oxoprolinase (ATP-hydrolyzing) activity",
"logical_definition": null,
"original_id": "GO:0017168",
"relationships": [
{
"predicate": "subClassOf",
"target": "HydrolaseActivity_actingOnCarbonNitrogen_butNotPeptide_bonds_inCyclicAmides"
}
]
} | 0 | {
"document": "5-oxoprolinase (ATP-hydrolyzing) activity Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. [{'predicate': 'subClassOf', 'target': 'HydrolaseActivity_actingOnCarbonNitrogen_butNotPeptide_bonds_inCyclicAmides'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 5 and under 6 years old.",
"id": "5YearOldHumanStage",
"label": "5-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000099",
"relationships": [
{
"predicate": "PartOf",
"target": "25YearOldChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "4YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "5-year-old human stage Child stage that refers to a child who is over 5 and under 6 years old. [{'predicate': 'PartOf', 'target': '25YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '4YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5p13_Human_",
"label": "5p13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5p13",
"relationships": [
{
"predicate": "PartOf",
"target": "5p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5p13 (Human) None [{'predicate': 'PartOf', 'target': '5p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5p1_Human_",
"label": "5p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5p1",
"relationships": [
{
"predicate": "PartOf",
"target": "5p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5p1 (Human) None [{'predicate': 'PartOf', 'target': '5p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5p_Human_",
"label": "5p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome5_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome5_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q12_Human_",
"label": "5q12 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q12",
"relationships": [
{
"predicate": "PartOf",
"target": "5q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q12 (Human) None [{'predicate': 'PartOf', 'target': '5q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.",
"id": "5q143MicrodeletionSyndrome",
"label": "5q14.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016456",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "5q143_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome5"
}
]
} | 0 | {
"document": "5q14.3 microdeletion syndrome The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. [{'predicate': 'DiseaseArisesFromStructure', 'target': '5q143_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome5'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q143_Human_",
"label": "5q14.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q14.3",
"relationships": [
{
"predicate": "PartOf",
"target": "5q14_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q14.3 (Human) None [{'predicate': 'PartOf', 'target': '5q14_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q14_Human_",
"label": "5q14 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q14",
"relationships": [
{
"predicate": "PartOf",
"target": "5q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q14 (Human) None [{'predicate': 'PartOf', 'target': '5q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q1_Human_",
"label": "5q1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q1",
"relationships": [
{
"predicate": "PartOf",
"target": "5q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q1 (Human) None [{'predicate': 'PartOf', 'target': '5q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q222_Human_",
"label": "5q22.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q22.2",
"relationships": [
{
"predicate": "PartOf",
"target": "5q22_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q22.2 (Human) None [{'predicate': 'PartOf', 'target': '5q22_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q22_Human_",
"label": "5q22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q22",
"relationships": [
{
"predicate": "PartOf",
"target": "5q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q22 (Human) None [{'predicate': 'PartOf', 'target': '5q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q2_Human_",
"label": "5q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q2",
"relationships": [
{
"predicate": "PartOf",
"target": "5q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q2 (Human) None [{'predicate': 'PartOf', 'target': '5q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q313_Human_",
"label": "5q31.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q31.3",
"relationships": [
{
"predicate": "PartOf",
"target": "5q31_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q31.3 (Human) None [{'predicate': 'PartOf', 'target': '5q31_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q31_Human_",
"label": "5q31 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q31",
"relationships": [
{
"predicate": "PartOf",
"target": "5q3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q31 (Human) None [{'predicate': 'PartOf', 'target': '5q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.",
"id": "5q35MicroduplicationSyndrome",
"label": "5q35 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0016461",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "5q35_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialTrisomyOfTheLongArmOfChromosome5"
}
]
} | 0 | {
"document": "5q35 microduplication syndrome The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. [{'predicate': 'DiseaseArisesFromStructure', 'target': '5q35_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialTrisomyOfTheLongArmOfChromosome5'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q35_Human_",
"label": "5q35 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q35",
"relationships": [
{
"predicate": "PartOf",
"target": "5q3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q35 (Human) None [{'predicate': 'PartOf', 'target': '5q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q3_Human_",
"label": "5q3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q3",
"relationships": [
{
"predicate": "PartOf",
"target": "5q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q3 (Human) None [{'predicate': 'PartOf', 'target': '5q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5q_Human_",
"label": "5q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr5q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome5_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "5q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome5_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "5thArchMesenchyme",
"label": "5th arch mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0013502",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch5"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymalRegion"
}
]
} | 0 | {
"document": "5th arch mesenchyme None [{'predicate': 'PartOf', 'target': 'PharyngealArch5'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymalRegion'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 6 and under 13 years old.",
"id": "612YearOldChildStage",
"label": "6-12 year-old child stage",
"logical_definition": null,
"original_id": "HsapDv:0000085",
"relationships": [
{
"predicate": "PartOf",
"target": "ChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "25YearOldChildStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "6-12 year-old child stage Child stage that refers to a child who is over 6 and under 13 years old. [{'predicate': 'PartOf', 'target': 'ChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '25YearOldChildStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine.",
"id": "67DihydropteridineReductaseActivity",
"label": "6,7-dihydropteridine reductase activity",
"logical_definition": null,
"original_id": "GO:0004155",
"relationships": [
{
"predicate": "subClassOf",
"target": "OxidoreductaseActivity_actingOnTheCHNHGroupOfDonors_NADOrNADPAsAcceptor"
}
]
} | 0 | {
"document": "6,7-dihydropteridine reductase activity Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine. [{'predicate': 'subClassOf', 'target': 'OxidoreductaseActivity_actingOnTheCHNHGroupOfDonors_NADOrNADPAsAcceptor'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6Aminopenicillanate",
"label": "6-aminopenicillanate",
"logical_definition": null,
"original_id": "CHEBI:30938",
"relationships": [
{
"predicate": "IsConjugateAcidOf",
"target": "6AminopenicillanicAcid"
},
{
"predicate": "IsConjugateBaseOf",
"target": "6AminopenicillanicAcidZwitterion"
},
{
"predicate": "subClassOf",
"target": "PenicillinateAnion"
}
]
} | 0 | {
"document": "6-aminopenicillanate None [{'predicate': 'IsConjugateAcidOf', 'target': '6AminopenicillanicAcid'}, {'predicate': 'IsConjugateBaseOf', 'target': '6AminopenicillanicAcidZwitterion'}, {'predicate': 'subClassOf', 'target': 'PenicillinateAnion'}]"
} |
{
"aliases": null,
"definition": "A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics.",
"id": "6AminopenicillanicAcid",
"label": "6-aminopenicillanic acid",
"logical_definition": null,
"original_id": "CHEBI:16705",
"relationships": [
{
"predicate": "HasRole",
"target": "Allergen"
},
{
"predicate": "HasFunctionalParent",
"target": "PenicillanicAcid"
},
{
"predicate": "IsConjugateBaseOf",
"target": "6Aminopenicillanate"
},
{
"predicate": "obo:chebi#is_tautomer_of",
"target": "6AminopenicillanicAcidZwitterion"
},
{
"predicate": "subClassOf",
"target": "PenicillanicAcids"
}
]
} | 0 | {
"document": "6-aminopenicillanic acid A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics. [{'predicate': 'HasRole', 'target': 'Allergen'}, {'predicate': 'HasFunctionalParent', 'target': 'PenicillanicAcid'}, {'predicate': 'IsConjugateBaseOf', 'target': '6Aminopenicillanate'}, {'predicate': 'obo:chebi#is_tautomer_of', 'target': '6AminopenicillanicAcidZwitterion'}, {'predicate': 'subClassOf', 'target': 'PenicillanicAcids'}]"
} |
{
"aliases": null,
"definition": "Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3.",
"id": "6AminopenicillanicAcidZwitterion",
"label": "6-aminopenicillanic acid zwitterion",
"logical_definition": null,
"original_id": "CHEBI:57869",
"relationships": [
{
"predicate": "IsConjugateAcidOf",
"target": "6Aminopenicillanate"
},
{
"predicate": "obo:chebi#is_tautomer_of",
"target": "6AminopenicillanicAcid"
},
{
"predicate": "subClassOf",
"target": "AminoAcidZwitterion"
}
]
} | 0 | {
"document": "6-aminopenicillanic acid zwitterion Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3. [{'predicate': 'IsConjugateAcidOf', 'target': '6Aminopenicillanate'}, {'predicate': 'obo:chebi#is_tautomer_of', 'target': '6AminopenicillanicAcid'}, {'predicate': 'subClassOf', 'target': 'AminoAcidZwitterion'}]"
} |
{
"aliases": null,
"definition": "Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate.",
"id": "6PhosphofructokinaseActivity",
"label": "6-phosphofructokinase activity",
"logical_definition": null,
"original_id": "GO:0003872",
"relationships": [
{
"predicate": "PartOf",
"target": "GlycolyticProcessThroughFructose6Phosphate"
},
{
"predicate": "subClassOf",
"target": "PhosphofructokinaseActivity"
}
]
} | 0 | {
"document": "6-phosphofructokinase activity Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate. [{'predicate': 'PartOf', 'target': 'GlycolyticProcessThroughFructose6Phosphate'}, {'predicate': 'subClassOf', 'target': 'PhosphofructokinaseActivity'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6PhosphogluconateDehydrogenaseDeficiency",
"label": "6-phosphogluconate dehydrogenase deficiency",
"logical_definition": null,
"original_id": "MONDO:0020457",
"relationships": [
{
"predicate": "subClassOf",
"target": "HemolyticAnemia_MONDO:0003664"
}
]
} | 0 | {
"document": "6-phosphogluconate dehydrogenase deficiency None [{'predicate': 'subClassOf', 'target': 'HemolyticAnemia_MONDO:0003664'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6PhosphogluconolactonaseDeficiency",
"label": "6-phosphogluconolactonase deficiency",
"logical_definition": null,
"original_id": "MONDO:0008240",
"relationships": [
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
}
]
} | 0 | {
"document": "6-phosphogluconolactonase deficiency None [{'predicate': 'subClassOf', 'target': 'HereditaryDisease'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 6 and under 7 years old.",
"id": "6YearOldHumanStage",
"label": "6-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000100",
"relationships": [
{
"predicate": "PartOf",
"target": "612YearOldChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "5YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "6-year-old human stage Child stage that refers to a child who is over 6 and under 7 years old. [{'predicate': 'PartOf', 'target': '612YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '5YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.",
"id": "6p22MicrodeletionSyndrome",
"label": "6p22 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016655",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "6p22_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome6"
}
]
} | 0 | {
"document": "6p22 microdeletion syndrome 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. [{'predicate': 'DiseaseArisesFromStructure', 'target': '6p22_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome6'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6p22_Human_",
"label": "6p22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6p22",
"relationships": [
{
"predicate": "PartOf",
"target": "6p2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6p22 (Human) None [{'predicate': 'PartOf', 'target': '6p2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6p2_Human_",
"label": "6p2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6p2",
"relationships": [
{
"predicate": "PartOf",
"target": "6p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6p2 (Human) None [{'predicate': 'PartOf', 'target': '6p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6p_Human_",
"label": "6p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome6_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome6_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6pterP24_Human_",
"label": "6pter-p24 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6pter-p24",
"relationships": [
{
"predicate": "PartOf",
"target": "6p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6pter-p24 (Human) None [{'predicate': 'PartOf', 'target': '6p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6q11Q14_Human_",
"label": "6q11-q14 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6q11-q14",
"relationships": [
{
"predicate": "PartOf",
"target": "6q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6q11-q14 (Human) None [{'predicate': 'PartOf', 'target': '6q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.",
"id": "6q16DeletionSyndrome",
"label": "6q16 deletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0015749",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "6q16_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome6"
},
{
"predicate": "subClassOf",
"target": "PraderWilliLikeSyndrome"
}
]
} | 0 | {
"document": "6q16 deletion syndrome Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. [{'predicate': 'DiseaseArisesFromStructure', 'target': '6q16_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome6'}, {'predicate': 'subClassOf', 'target': 'PraderWilliLikeSyndrome'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6q16_Human_",
"label": "6q16 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6q16",
"relationships": [
{
"predicate": "PartOf",
"target": "6q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6q16 (Human) None [{'predicate': 'PartOf', 'target': '6q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6q1_Human_",
"label": "6q1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6q1",
"relationships": [
{
"predicate": "PartOf",
"target": "6q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6q1 (Human) None [{'predicate': 'PartOf', 'target': '6q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6q24Q25_Human_",
"label": "6q24-q25 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6q24-q25",
"relationships": [
{
"predicate": "PartOf",
"target": "6q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6q24-q25 (Human) None [{'predicate': 'PartOf', 'target': '6q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.",
"id": "6qTerminalDeletionSyndrome",
"label": "6q terminal deletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0019164",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicAnorectalMalformation"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome6"
}
]
} | 0 | {
"document": "6q terminal deletion syndrome 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. [{'predicate': 'subClassOf', 'target': 'SyndromicAnorectalMalformation'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome6'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6q_Human_",
"label": "6q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr6q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome6_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "6q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome6_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6thArchMesenchyme",
"label": "6th arch mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010031",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch6"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymalRegion"
}
]
} | 0 | {
"document": "6th arch mesenchyme None [{'predicate': 'PartOf', 'target': 'PharyngealArch6'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6thArchMesenchymeFromHeadMesenchyme",
"label": "6th arch mesenchyme from head mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010347",
"relationships": [
{
"predicate": "PartOf",
"target": "6thArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "HeadMesenchymeFromMesoderm"
},
{
"predicate": "subClassOf",
"target": "6thArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromHeadMesenchyme"
}
]
} | 0 | {
"document": "6th arch mesenchyme from head mesenchyme None [{'predicate': 'PartOf', 'target': '6thArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'HeadMesenchymeFromMesoderm'}, {'predicate': 'subClassOf', 'target': '6thArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromHeadMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "6thArchMesenchymeFromNeuralCrest",
"label": "6th arch mesenchyme from neural crest",
"logical_definition": null,
"original_id": "UBERON:0010257",
"relationships": [
{
"predicate": "PartOf",
"target": "6thArchMesenchyme"
},
{
"predicate": "PartOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "6thArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromNeuralCrest"
}
]
} | 0 | {
"document": "6th arch mesenchyme from neural crest None [{'predicate': 'PartOf', 'target': '6thArchMesenchyme'}, {'predicate': 'PartOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'subClassOf', 'target': '6thArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromNeuralCrest'}]"
} |
{
"aliases": null,
"definition": null,
"id": "78DimethylbenzoGPteridine24Dione",
"label": "7,8-dimethylbenzo[g]pteridine-2,4-dione",
"logical_definition": null,
"original_id": "CHEBI:37324",
"relationships": [
{
"predicate": "subClassOf",
"target": "Benzopteridine"
}
]
} | 0 | {
"document": "7,8-dimethylbenzo[g]pteridine-2,4-dione None [{'predicate': 'subClassOf', 'target': 'Benzopteridine'}]"
} |
{
"aliases": null,
"definition": "A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is isoalloxazine substituted by methyl groups at positions 7 and 8.",
"id": "78Dimethylisoalloxazine",
"label": "7,8-dimethylisoalloxazine",
"logical_definition": null,
"original_id": "CHEBI:37323",
"relationships": [
{
"predicate": "HasFunctionalParent",
"target": "Isoalloxazine"
},
{
"predicate": "obo:chebi#is_tautomer_of",
"target": "Lumichrome"
},
{
"predicate": "subClassOf",
"target": "78DimethylbenzoGPteridine24Dione"
}
]
} | 0 | {
"document": "7,8-dimethylisoalloxazine A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is isoalloxazine substituted by methyl groups at positions 7 and 8. [{'predicate': 'HasFunctionalParent', 'target': 'Isoalloxazine'}, {'predicate': 'obo:chebi#is_tautomer_of', 'target': 'Lumichrome'}, {'predicate': 'subClassOf', 'target': '78DimethylbenzoGPteridine24Dione'}]"
} |
{
"aliases": null,
"definition": "Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+.",
"id": "7DehydrocholesterolReductaseActivity",
"label": "7-dehydrocholesterol reductase activity",
"logical_definition": null,
"original_id": "GO:0047598",
"relationships": [
{
"predicate": "subClassOf",
"target": "OxidoreductaseActivity_actingOnTheCHCHGroupOfDonors_NADOrNADPAsAcceptor"
}
]
} | 0 | {
"document": "7-dehydrocholesterol reductase activity Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. [{'predicate': 'subClassOf', 'target': 'OxidoreductaseActivity_actingOnTheCHCHGroupOfDonors_NADOrNADPAsAcceptor'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 7 and under 8 years old.",
"id": "7YearOldHumanStage",
"label": "7-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000101",
"relationships": [
{
"predicate": "PartOf",
"target": "612YearOldChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "6YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "7-year-old human stage Child stage that refers to a child who is over 7 and under 8 years old. [{'predicate': 'PartOf', 'target': '612YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '6YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7p112P13_Human_",
"label": "7p11.2-p13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7p11.2-p13",
"relationships": [
{
"predicate": "PartOf",
"target": "7p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7p11.2-p13 (Human) None [{'predicate': 'PartOf', 'target': '7p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.",
"id": "7p221MicroduplicationSyndrome",
"label": "7p22.1 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0017792",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "7p221_Human_"
},
{
"predicate": "subClassOf",
"target": "SyndromicIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheShortArmOfChromosome7"
}
]
} | 0 | {
"document": "7p22.1 microduplication syndrome 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. [{'predicate': 'DiseaseArisesFromStructure', 'target': '7p221_Human_'}, {'predicate': 'subClassOf', 'target': 'SyndromicIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome7'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7p221_Human_",
"label": "7p22.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7p22.1",
"relationships": [
{
"predicate": "PartOf",
"target": "7p22_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7p22.1 (Human) None [{'predicate': 'PartOf', 'target': '7p22_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7p22_Human_",
"label": "7p22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7p22",
"relationships": [
{
"predicate": "PartOf",
"target": "7p2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7p22 (Human) None [{'predicate': 'PartOf', 'target': '7p2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7p2_Human_",
"label": "7p2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7p2",
"relationships": [
{
"predicate": "PartOf",
"target": "7p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7p2 (Human) None [{'predicate': 'PartOf', 'target': '7p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7p_Human_",
"label": "7p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome7_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome7_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.",
"id": "7q1123MicroduplicationSyndrome",
"label": "7q11.23 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0012342",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "7q1123_Human_"
},
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheLongArmOfChromosome7"
}
]
} | 0 | {
"document": "7q11.23 microduplication syndrome 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. [{'predicate': 'DiseaseArisesFromStructure', 'target': '7q1123_Human_'}, {'predicate': 'subClassOf', 'target': 'HereditaryDisease'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome7'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q1123_Human_",
"label": "7q11.23 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q11.23",
"relationships": [
{
"predicate": "PartOf",
"target": "7q112_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q11.23 (Human) None [{'predicate': 'PartOf', 'target': '7q112_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q112_Human_",
"label": "7q11.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q11.2",
"relationships": [
{
"predicate": "PartOf",
"target": "7q11_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q11.2 (Human) None [{'predicate': 'PartOf', 'target': '7q11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q11_Human_",
"label": "7q11 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q11",
"relationships": [
{
"predicate": "PartOf",
"target": "7q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q11 (Human) None [{'predicate': 'PartOf', 'target': '7q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |