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{ "aliases": null, "definition": "Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed.\nThe seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit.\nThe edible portion of the nut is consumed in succulent, dried or processed forms.", "id": "022_treeNuts_tn_Ccpr_", "label": "022 tree nuts (tn) (ccpr)", "logical_definition": null, "original_id": "FOODON:03400685", "relationships": [ { "predicate": "subClassOf", "target": "04_nutsAndSeeds_ccpr_" } ] }

{ "document": "022 tree nuts (tn) (ccpr) Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed.\nThe seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit.\nThe edible portion of the nut is consumed in succulent, dried or processed forms. [{'predicate': 'subClassOf', 'target': '04_nutsAndSeeds_ccpr_'}]" }

{ "aliases": null, "definition": "TYPE 04 - NUTS AND SEEDS\n\nNuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated.\n\nThe mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed.", "id": "04_nutsAndSeeds_ccpr_", "label": "04 nuts and seeds (ccpr)", "logical_definition": null, "original_id": "FOODON:03400652", "relationships": [ { "predicate": "subClassOf", "target": "A_PrimaryFoodCommoditiesOfPlantOrigin_ccpr_" } ] }

{ "document": "04 nuts and seeds (ccpr) TYPE 04 - NUTS AND SEEDS\n\nNuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated.\n\nThe mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed. [{'predicate': 'subClassOf', 'target': 'A_PrimaryFoodCommoditiesOfPlantOrigin_ccpr_'}]" }

{ "aliases": null, "definition": "Child stage that refers to a child who is over 10 and under 11 years old.", "id": "10YearOldHumanStage", "label": "10-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000104", "relationships": [ { "predicate": "PartOf", "target": "612YearOldChildStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "9YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "10-year-old human stage Child stage that refers to a child who is over 10 and under 11 years old. [{'predicate': 'PartOf', 'target': '612YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '9YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "10p1121P1231_Human_", "label": "10p11.21-p12.31 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr10p11.21-p12.31", "relationships": [ { "predicate": "PartOf", "target": "10p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "10p11.21-p12.31 (Human) None [{'predicate': 'PartOf', 'target': '10p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "10p_Human_", "label": "10p (Human)", "logical_definition": null, "original_id": "CHR:9606-chr10p", "relationships": [ { "predicate": "PartOf", "target": "Chromosome10_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "10p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome10_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "10q223Q233_Human_", "label": "10q22.3-q23.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr10q22.3-q23.3", "relationships": [ { "predicate": "PartOf", "target": "10q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "10q22.3-q23.3 (Human) None [{'predicate': 'PartOf', 'target': '10q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "10q223q233MicroduplicationSyndrome", "label": "10q22.3q23.3 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0017180", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "10q223Q233_Human_" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheLongArmOfChromosome10" } ] }

{ "document": "10q22.3q23.3 microduplication syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '10q223Q233_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome10'}]" }

{ "aliases": null, "definition": null, "id": "10q23_Human_", "label": "10q23 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr10q23", "relationships": [ { "predicate": "PartOf", "target": "10q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "10q23 (Human) None [{'predicate': 'PartOf', 'target': '10q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "10q24_Human_", "label": "10q24 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr10q24", "relationships": [ { "predicate": "PartOf", "target": "10q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "10q24 (Human) None [{'predicate': 'PartOf', 'target': '10q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "10q2_Human_", "label": "10q2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr10q2", "relationships": [ { "predicate": "PartOf", "target": "10q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "10q2 (Human) None [{'predicate': 'PartOf', 'target': '10q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "10q_Human_", "label": "10q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr10q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome10_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "10q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome10_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+).", "id": "11BetaHydroxysteroidDehydrogenase_NADP_Activity", "label": "11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity", "logical_definition": null, "original_id": "GO:0003845", "relationships": [ { "predicate": "subClassOf", "target": "SteroidDehydrogenaseActivity_actingOnTheCHOHGroupOfDonors_NADOrNADPAsAcceptor" } ] }

{ "document": "11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+). [{'predicate': 'subClassOf', 'target': 'SteroidDehydrogenaseActivity_actingOnTheCHOHGroupOfDonors_NADOrNADPAsAcceptor'}]" }

{ "aliases": null, "definition": null, "id": "11HydroxySteroid", "label": "11-hydroxy steroid", "logical_definition": null, "original_id": "CHEBI:36841", "relationships": [ { "predicate": "subClassOf", "target": "HydroxySteroid" } ] }

{ "document": "11-hydroxy steroid None [{'predicate': 'subClassOf', 'target': 'HydroxySteroid'}]" }

{ "aliases": null, "definition": "Child stage that refers to a child who is over 11 and under 12 years old.", "id": "11YearOldHumanStage", "label": "11-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000105", "relationships": [ { "predicate": "PartOf", "target": "612YearOldChildStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "10YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "11-year-old human stage Child stage that refers to a child who is over 11 and under 12 years old. [{'predicate': 'PartOf', 'target': '612YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '10YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration.", "id": "11betaHydroxySteroid", "label": "11beta-hydroxy steroid", "logical_definition": null, "original_id": "CHEBI:35346", "relationships": [ { "predicate": "subClassOf", "target": "11HydroxySteroid" } ] }

{ "document": "11beta-hydroxy steroid Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration. [{'predicate': 'subClassOf', 'target': '11HydroxySteroid'}]" }

{ "aliases": null, "definition": null, "id": "11p13_Human_", "label": "11p13 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11p13", "relationships": [ { "predicate": "PartOf", "target": "11p1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11p13 (Human) None [{'predicate': 'PartOf', 'target': '11p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.", "id": "11p154MicroduplicationSyndrome", "label": "11p15.4 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0017580", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "11p154_Human_" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheShortArmOfChromosome11" }, { "predicate": "subClassOf", "target": "OvergrowthSyndrome" } ] }

{ "document": "11p15.4 microduplication syndrome 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. [{'predicate': 'DiseaseArisesFromStructure', 'target': '11p154_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome11'}, {'predicate': 'subClassOf', 'target': 'OvergrowthSyndrome'}]" }

{ "aliases": null, "definition": null, "id": "11p154_Human_", "label": "11p15.4 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11p15.4", "relationships": [ { "predicate": "PartOf", "target": "11p15_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11p15.4 (Human) None [{'predicate': 'PartOf', 'target': '11p15_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11p15P14_Human_", "label": "11p15-p14 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11p15-p14", "relationships": [ { "predicate": "PartOf", "target": "11p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11p15-p14 (Human) None [{'predicate': 'PartOf', 'target': '11p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11p15_Human_", "label": "11p15 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11p15", "relationships": [ { "predicate": "PartOf", "target": "11p1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11p15 (Human) None [{'predicate': 'PartOf', 'target': '11p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11p1_Human_", "label": "11p1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11p1", "relationships": [ { "predicate": "PartOf", "target": "11p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11p1 (Human) None [{'predicate': 'PartOf', 'target': '11p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11p_Human_", "label": "11p (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11p", "relationships": [ { "predicate": "PartOf", "target": "Chromosome11_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11q222Q223_Human_", "label": "11q22.2-q22.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11q22.2-q22.3", "relationships": [ { "predicate": "PartOf", "target": "11q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11q22.2-q22.3 (Human) None [{'predicate': 'PartOf', 'target': '11q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11q222q223MicrodeletionSyndrome", "label": "11q22.2q22.3 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0018632", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "11q222Q223_Human_" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome11" } ] }

{ "document": "11q22.2q22.3 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '11q222Q223_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome11'}]" }

{ "aliases": null, "definition": null, "id": "11q241_Human_", "label": "11q24.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11q24.1", "relationships": [ { "predicate": "PartOf", "target": "11q24_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11q24.1 (Human) None [{'predicate': 'PartOf', 'target': '11q24_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11q24_Human_", "label": "11q24 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11q24", "relationships": [ { "predicate": "PartOf", "target": "11q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11q24 (Human) None [{'predicate': 'PartOf', 'target': '11q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11q2_Human_", "label": "11q2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11q2", "relationships": [ { "predicate": "PartOf", "target": "11q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11q2 (Human) None [{'predicate': 'PartOf', 'target': '11q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "11q_Human_", "label": "11q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr11q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome11_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "11q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Child stage that refers to a child who is over 12 and under 13 years old.", "id": "12YearOldHumanStage", "label": "12-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000106", "relationships": [ { "predicate": "PartOf", "target": "612YearOldChildStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "11YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "12-year-old human stage Child stage that refers to a child who is over 12 and under 13 years old. [{'predicate': 'PartOf', 'target': '612YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '11YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "12p121MicrodeletionSyndrome", "label": "12p12.1 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0017781", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "12p121_Human_" }, { "predicate": "subClassOf", "target": "Chromosome12pDeletion" } ] }

{ "document": "12p12.1 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '12p121_Human_'}, {'predicate': 'subClassOf', 'target': 'Chromosome12pDeletion'}]" }

{ "aliases": null, "definition": null, "id": "12p121_Human_", "label": "12p12.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12p12.1", "relationships": [ { "predicate": "PartOf", "target": "12p12_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12p12.1 (Human) None [{'predicate': 'PartOf', 'target': '12p12_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "12p12_Human_", "label": "12p12 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12p12", "relationships": [ { "predicate": "PartOf", "target": "12p1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12p12 (Human) None [{'predicate': 'PartOf', 'target': '12p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "12p1_Human_", "label": "12p1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12p1", "relationships": [ { "predicate": "PartOf", "target": "12p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12p1 (Human) None [{'predicate': 'PartOf', 'target': '12p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "12p_Human_", "label": "12p (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12p", "relationships": [ { "predicate": "PartOf", "target": "Chromosome12_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome12_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.", "id": "12q14MicrodeletionSyndrome", "label": "12q14 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0019784", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "12q14_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome12" } ] }

{ "document": "12q14 microdeletion syndrome 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. [{'predicate': 'DiseaseArisesFromStructure', 'target': '12q14_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome12'}]" }

{ "aliases": null, "definition": null, "id": "12q14_Human_", "label": "12q14 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12q14", "relationships": [ { "predicate": "PartOf", "target": "12q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12q14 (Human) None [{'predicate': 'PartOf', 'target': '12q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "12q15Q211_Human_", "label": "12q15-q21.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12q15-q21.1", "relationships": [ { "predicate": "PartOf", "target": "12q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12q15-q21.1 (Human) None [{'predicate': 'PartOf', 'target': '12q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.", "id": "12q15q211MicrodeletionSyndrome", "label": "12q15q21.1 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0017334", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "12q15Q211_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome12" } ] }

{ "document": "12q15q21.1 microdeletion syndrome 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. [{'predicate': 'DiseaseArisesFromStructure', 'target': '12q15Q211_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome12'}]" }

{ "aliases": null, "definition": null, "id": "12q1_Human_", "label": "12q1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12q1", "relationships": [ { "predicate": "PartOf", "target": "12q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12q1 (Human) None [{'predicate': 'PartOf', 'target': '12q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "12q_Human_", "label": "12q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr12q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome12_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "12q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome12_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "134Thiadiazole", "label": "1,3,4-thiadiazole", "logical_definition": null, "original_id": "CHEBI:39472", "relationships": [ { "predicate": "subClassOf", "target": "Thiadiazole" } ] }

{ "document": "1,3,4-thiadiazole None [{'predicate': 'subClassOf', 'target': 'Thiadiazole'}]" }

{ "aliases": null, "definition": null, "id": "13CisRetinoate", "label": "13-cis-retinoate", "logical_definition": null, "original_id": "CHEBI:169952", "relationships": [ { "predicate": "IsConjugateBaseOf", "target": "Isotretinoin" }, { "predicate": "subClassOf", "target": "Retinoate" } ] }

{ "document": "13-cis-retinoate None [{'predicate': 'IsConjugateBaseOf', 'target': 'Isotretinoin'}, {'predicate': 'subClassOf', 'target': 'Retinoate'}]" }

{ "aliases": null, "definition": null, "id": "13Thiazoles", "label": "1,3-thiazoles", "logical_definition": null, "original_id": "CHEBI:38418", "relationships": [ { "predicate": "subClassOf", "target": "Thiazoles" } ] }

{ "document": "1,3-thiazoles None [{'predicate': 'subClassOf', 'target': 'Thiazoles'}]" }

{ "aliases": null, "definition": "An organic cation resulting from protonation or quaternisation at the 3-position of any 1,3-thiazole.", "id": "13ThiazoliumCation", "label": "1,3-thiazolium cation", "logical_definition": null, "original_id": "CHEBI:63048", "relationships": [ { "predicate": "subClassOf", "target": "OrganicCation" }, { "predicate": "subClassOf", "target": "13Thiazoles" } ] }

{ "document": "1,3-thiazolium cation An organic cation resulting from protonation or quaternisation at the 3-position of any 1,3-thiazole. [{'predicate': 'subClassOf', 'target': 'OrganicCation'}, {'predicate': 'subClassOf', 'target': '13Thiazoles'}]" }

{ "aliases": null, "definition": "Adolescent stage that refers to an adolescent who is over 13 and under 14 years old.", "id": "13YearOldHumanStage", "label": "13-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000107", "relationships": [ { "predicate": "PartOf", "target": "AdolescentStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "12YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "13-year-old human stage Adolescent stage that refers to an adolescent who is over 13 and under 14 years old. [{'predicate': 'PartOf', 'target': 'AdolescentStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '12YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "13p_Human_", "label": "13p (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13p", "relationships": [ { "predicate": "PartOf", "target": "Chromosome13_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.", "id": "13q123MicrodeletionSyndrome", "label": "13q12.3 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0018474", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "13q123_Human_" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome13" }, { "predicate": "subClassOf", "target": "EpidermalDisease" } ] }

{ "document": "13q12.3 microdeletion syndrome 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. [{'predicate': 'DiseaseArisesFromStructure', 'target': '13q123_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome13'}, {'predicate': 'subClassOf', 'target': 'EpidermalDisease'}]" }

{ "aliases": null, "definition": null, "id": "13q123_Human_", "label": "13q12.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13q12.3", "relationships": [ { "predicate": "PartOf", "target": "13q12_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13q12.3 (Human) None [{'predicate': 'PartOf', 'target': '13q12_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "13q12_Human_", "label": "13q12 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13q12", "relationships": [ { "predicate": "PartOf", "target": "13q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13q12 (Human) None [{'predicate': 'PartOf', 'target': '13q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "13q14_Human_", "label": "13q14 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13q14", "relationships": [ { "predicate": "PartOf", "target": "13q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13q14 (Human) None [{'predicate': 'PartOf', 'target': '13q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "13q1_Human_", "label": "13q1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13q1", "relationships": [ { "predicate": "PartOf", "target": "13q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13q1 (Human) None [{'predicate': 'PartOf', 'target': '13q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "13q34_Human_", "label": "13q34 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13q34", "relationships": [ { "predicate": "PartOf", "target": "13q3_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13q34 (Human) None [{'predicate': 'PartOf', 'target': '13q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "13q3_Human_", "label": "13q3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13q3", "relationships": [ { "predicate": "PartOf", "target": "13q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13q3 (Human) None [{'predicate': 'PartOf', 'target': '13q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "13q_Human_", "label": "13q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr13q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome13_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "13q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Adolescent stage that refers to an adolescent who is over 14 and under 15 years old.", "id": "14YearOldHumanStage", "label": "14-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000108", "relationships": [ { "predicate": "PartOf", "target": "AdolescentStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "13YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "14-year-old human stage Adolescent stage that refers to an adolescent who is over 14 and under 15 years old. [{'predicate': 'PartOf', 'target': 'AdolescentStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '13YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.", "id": "14q112MicroduplicationSyndrome", "label": "14q11.2 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0016835", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "14q112_Human_" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheLongArmOfChromosome14" } ] }

{ "document": "14q11.2 microduplication syndrome 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. [{'predicate': 'DiseaseArisesFromStructure', 'target': '14q112_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome14'}]" }

{ "aliases": null, "definition": null, "id": "14q112_Human_", "label": "14q11.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q11.2", "relationships": [ { "predicate": "PartOf", "target": "14q11_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q11.2 (Human) None [{'predicate': 'PartOf', 'target': '14q11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q11Q22_Human_", "label": "14q11-q22 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q11-q22", "relationships": [ { "predicate": "PartOf", "target": "14q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q11-q22 (Human) None [{'predicate': 'PartOf', 'target': '14q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q11_Human_", "label": "14q11 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q11", "relationships": [ { "predicate": "PartOf", "target": "14q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q11 (Human) None [{'predicate': 'PartOf', 'target': '14q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.", "id": "14q12MicrodeletionSyndrome", "label": "14q12 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0016833", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "14q12_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome14" } ] }

{ "document": "14q12 microdeletion syndrome 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. [{'predicate': 'DiseaseArisesFromStructure', 'target': '14q12_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome14'}]" }

{ "aliases": null, "definition": null, "id": "14q12_Human_", "label": "14q12 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q12", "relationships": [ { "predicate": "PartOf", "target": "14q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q12 (Human) None [{'predicate': 'PartOf', 'target': '14q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q1_Human_", "label": "14q1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q1", "relationships": [ { "predicate": "PartOf", "target": "14q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q1 (Human) None [{'predicate': 'PartOf', 'target': '14q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q22Q23_Human_", "label": "14q22-q23 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q22-q23", "relationships": [ { "predicate": "PartOf", "target": "14q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q22-q23 (Human) None [{'predicate': 'PartOf', 'target': '14q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q241Q243_Human_", "label": "14q24.1-q24.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q24.1-q24.3", "relationships": [ { "predicate": "PartOf", "target": "14q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q24.1-q24.3 (Human) None [{'predicate': 'PartOf', 'target': '14q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q241q243MicrodeletionSyndrome", "label": "14q24.1q24.3 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0018429", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "14q241Q243_Human_" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome14" } ] }

{ "document": "14q24.1q24.3 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '14q241Q243_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome14'}]" }

{ "aliases": null, "definition": null, "id": "14q322_Human_", "label": "14q32.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q32.2", "relationships": [ { "predicate": "PartOf", "target": "14q32_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q32.2 (Human) None [{'predicate': 'PartOf', 'target': '14q32_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.", "id": "14q32DuplicationSyndrome", "label": "14q32 duplication syndrome", "logical_definition": null, "original_id": "MONDO:0014707", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "14q32_Human_" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheLongArmOfChromosome14" } ] }

{ "document": "14q32 duplication syndrome 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. [{'predicate': 'DiseaseArisesFromStructure', 'target': '14q32_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome14'}]" }

{ "aliases": null, "definition": null, "id": "14q32_Human_", "label": "14q32 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q32", "relationships": [ { "predicate": "PartOf", "target": "14q3_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q32 (Human) None [{'predicate': 'PartOf', 'target': '14q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q3_Human_", "label": "14q3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q3", "relationships": [ { "predicate": "PartOf", "target": "14q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q3 (Human) None [{'predicate': 'PartOf', 'target': '14q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "14q_Human_", "label": "14q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr14q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome14_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "14q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome14_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Adolescent stage that refers to an adolescent who is over 15 and under 16 years old.", "id": "15YearOldHumanStage", "label": "15-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000109", "relationships": [ { "predicate": "PartOf", "target": "AdolescentStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "14YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "15-year-old human stage Adolescent stage that refers to an adolescent who is over 15 and under 16 years old. [{'predicate': 'PartOf', 'target': 'AdolescentStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '14YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "15q112_Human_", "label": "15q11.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q11.2", "relationships": [ { "predicate": "PartOf", "target": "15q11_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q11.2 (Human) None [{'predicate': 'PartOf', 'target': '15q11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q11Q13_Human_", "label": "15q11-q13 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q11-q13", "relationships": [ { "predicate": "PartOf", "target": "15q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q11-q13 (Human) None [{'predicate': 'PartOf', 'target': '15q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q11_Human_", "label": "15q11 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q11", "relationships": [ { "predicate": "PartOf", "target": "15q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q11 (Human) None [{'predicate': 'PartOf', 'target': '15q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.", "id": "15q11q13MicroduplicationSyndrome", "label": "15q11q13 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0012081", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "15q11Q13_Human_" }, { "predicate": "PredisposesTowards", "target": "Autism_MONDO:0005260" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheLongArmOfChromosome15" } ] }

{ "document": "15q11q13 microduplication syndrome The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. [{'predicate': 'DiseaseArisesFromStructure', 'target': '15q11Q13_Human_'}, {'predicate': 'PredisposesTowards', 'target': 'Autism_MONDO:0005260'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome15'}]" }

{ "aliases": null, "definition": null, "id": "15q133_Human_", "label": "15q13.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q13.3", "relationships": [ { "predicate": "PartOf", "target": "15q13_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q13.3 (Human) None [{'predicate': 'PartOf', 'target': '15q13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q13_Human_", "label": "15q13 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q13", "relationships": [ { "predicate": "PartOf", "target": "15q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q13 (Human) None [{'predicate': 'PartOf', 'target': '15q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.", "id": "15q14MicrodeletionSyndrome", "label": "15q14 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0014822", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "15q14_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome15" } ] }

{ "document": "15q14 microdeletion syndrome 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. [{'predicate': 'DiseaseArisesFromStructure', 'target': '15q14_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome15'}]" }

{ "aliases": null, "definition": null, "id": "15q14_Human_", "label": "15q14 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q14", "relationships": [ { "predicate": "PartOf", "target": "15q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q14 (Human) None [{'predicate': 'PartOf', 'target': '15q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q1_Human_", "label": "15q1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q1", "relationships": [ { "predicate": "PartOf", "target": "15q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q1 (Human) None [{'predicate': 'PartOf', 'target': '15q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q24_Human_", "label": "15q24 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q24", "relationships": [ { "predicate": "PartOf", "target": "15q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q24 (Human) None [{'predicate': 'PartOf', 'target': '15q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q25_Human_", "label": "15q25 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q25", "relationships": [ { "predicate": "PartOf", "target": "15q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q25 (Human) None [{'predicate': 'PartOf', 'target': '15q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q26Qter_Human_", "label": "15q26-qter (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q26-qter", "relationships": [ { "predicate": "PartOf", "target": "15q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q26-qter (Human) None [{'predicate': 'PartOf', 'target': '15q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "15q2_Human_", "label": "15q2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q2", "relationships": [ { "predicate": "PartOf", "target": "15q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q2 (Human) None [{'predicate': 'PartOf', 'target': '15q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.", "id": "15qOvergrowthSyndrome", "label": "15q overgrowth syndrome", "logical_definition": null, "original_id": "MONDO:0017806", "relationships": [ { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheLongArmOfChromosome15" }, { "predicate": "subClassOf", "target": "OvergrowthSyndrome" } ] }

{ "document": "15q overgrowth syndrome 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. [{'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome15'}, {'predicate': 'subClassOf', 'target': 'OvergrowthSyndrome'}]" }

{ "aliases": null, "definition": null, "id": "15q_Human_", "label": "15q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr15q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome15_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "15q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome15_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Adolescent stage that refers to an adolescent who is over 16 and under 17 years old.", "id": "16YearOldHumanStage", "label": "16-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000110", "relationships": [ { "predicate": "PartOf", "target": "AdolescentStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "15YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "16-year-old human stage Adolescent stage that refers to an adolescent who is over 16 and under 17 years old. [{'predicate': 'PartOf', 'target': 'AdolescentStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '15YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "16p112P122_Human_", "label": "16p11.2-p12.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p11.2-p12.2", "relationships": [ { "predicate": "PartOf", "target": "16p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p11.2-p12.2 (Human) None [{'predicate': 'PartOf', 'target': '16p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "16p112_Human_", "label": "16p11.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p11.2", "relationships": [ { "predicate": "PartOf", "target": "16p11_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p11.2 (Human) None [{'predicate': 'PartOf', 'target': '16p11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.", "id": "16p112p122MicroduplicationSyndrome", "label": "16p11.2p12.2 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0016834", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "16p112P122_Human_" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheShortArmOfChromosome16" } ] }

{ "document": "16p11.2p12.2 microduplication syndrome 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. [{'predicate': 'DiseaseArisesFromStructure', 'target': '16p112P122_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome16'}]" }

{ "aliases": null, "definition": null, "id": "16p11_Human_", "label": "16p11 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p11", "relationships": [ { "predicate": "PartOf", "target": "16p1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p11 (Human) None [{'predicate': 'PartOf', 'target': '16p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "16p121P123_Human_", "label": "16p12.1-p12.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p12.1-p12.3", "relationships": [ { "predicate": "PartOf", "target": "16p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p12.1-p12.3 (Human) None [{'predicate': 'PartOf', 'target': '16p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "16p121_Human_", "label": "16p12.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p12.1", "relationships": [ { "predicate": "PartOf", "target": "16p12_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p12.1 (Human) None [{'predicate': 'PartOf', 'target': '16p12_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.", "id": "16p121p123TriplicationSyndrome", "label": "16p12.1p12.3 triplication syndrome", "logical_definition": null, "original_id": "MONDO:0044621", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "16p121P123_Human_" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheShortArmOfChromosome16" } ] }

{ "document": "16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. [{'predicate': 'DiseaseArisesFromStructure', 'target': '16p121P123_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome16'}]" }

{ "aliases": null, "definition": null, "id": "16p122P112_Human_", "label": "16p12.2-p11.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p12.2-p11.2", "relationships": [ { "predicate": "PartOf", "target": "16p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p12.2-p11.2 (Human) None [{'predicate': 'PartOf', 'target': '16p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "16p12_Human_", "label": "16p12 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p12", "relationships": [ { "predicate": "PartOf", "target": "16p1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p12 (Human) None [{'predicate': 'PartOf', 'target': '16p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.", "id": "16p1311MicrodeletionSyndrome", "label": "16p13.11 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0016836", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "16p1311_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheShortArmOfChromosome16" } ] }

{ "document": "16p13.11 microdeletion syndrome 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. [{'predicate': 'DiseaseArisesFromStructure', 'target': '16p1311_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome16'}]" }

{ "aliases": null, "definition": "16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.", "id": "16p1311MicroduplicationSyndrome", "label": "16p13.11 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0016837", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "16p1311_Human_" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheShortArmOfChromosome16" } ] }

{ "document": "16p13.11 microduplication syndrome 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. [{'predicate': 'DiseaseArisesFromStructure', 'target': '16p1311_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome16'}]" }

{ "aliases": null, "definition": null, "id": "16p1311_Human_", "label": "16p13.11 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p13.11", "relationships": [ { "predicate": "PartOf", "target": "16p131_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p13.11 (Human) None [{'predicate': 'PartOf', 'target': '16p131_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "16p131_Human_", "label": "16p13.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr16p13.1", "relationships": [ { "predicate": "PartOf", "target": "16p13_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "16p13.1 (Human) None [{'predicate': 'PartOf', 'target': '16p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }