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{ "aliases": null, "definition": "20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.", "id": "20q112MicroduplicationSyndrome", "label": "20q11.2 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0018204", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "20q112_Human_" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialTrisomyOfTheLongArmOfChromosome20" } ] }

{ "document": "20q11.2 microduplication syndrome 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. [{'predicate': 'DiseaseArisesFromStructure', 'target': '20q112_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialTrisomyOfTheLongArmOfChromosome20'}]" }

{ "aliases": null, "definition": null, "id": "20q112_Human_", "label": "20q11.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q11.2", "relationships": [ { "predicate": "PartOf", "target": "20q11_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q11.2 (Human) None [{'predicate': 'PartOf', 'target': '20q11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "20q11_Human_", "label": "20q11 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q11", "relationships": [ { "predicate": "PartOf", "target": "20q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q11 (Human) None [{'predicate': 'PartOf', 'target': '20q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "20q132Q133_Human_", "label": "20q13.2-q13.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q13.2-q13.3", "relationships": [ { "predicate": "PartOf", "target": "20q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q13.2-q13.3 (Human) None [{'predicate': 'PartOf', 'target': '20q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.", "id": "20q1333MicrodeletionSyndrome", "label": "20q13.33 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0016843", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "20q1333_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome20" } ] }

{ "document": "20q13.33 microdeletion syndrome 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. [{'predicate': 'DiseaseArisesFromStructure', 'target': '20q1333_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome20'}]" }

{ "aliases": null, "definition": null, "id": "20q1333_Human_", "label": "20q13.33 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q13.33", "relationships": [ { "predicate": "PartOf", "target": "20q133_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q13.33 (Human) None [{'predicate': 'PartOf', 'target': '20q133_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "20q133_Human_", "label": "20q13.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q13.3", "relationships": [ { "predicate": "PartOf", "target": "20q13_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q13.3 (Human) None [{'predicate': 'PartOf', 'target': '20q13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "20q13_Human_", "label": "20q13 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q13", "relationships": [ { "predicate": "PartOf", "target": "20q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q13 (Human) None [{'predicate': 'PartOf', 'target': '20q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "20q1_Human_", "label": "20q1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q1", "relationships": [ { "predicate": "PartOf", "target": "20q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q1 (Human) None [{'predicate': 'PartOf', 'target': '20q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "20q_Human_", "label": "20q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr20q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome20_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "20q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome20_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "21HydroxySteroid", "label": "21-hydroxy steroid", "logical_definition": null, "original_id": "CHEBI:35344", "relationships": [ { "predicate": "subClassOf", "target": "HydroxySteroid" } ] }

{ "document": "21-hydroxy steroid None [{'predicate': 'subClassOf', 'target': 'HydroxySteroid'}]" }

{ "aliases": null, "definition": "Young adult stage that refers to an adult who is over 21 and under 22.", "id": "21YearOldHumanStage", "label": "21-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000115", "relationships": [ { "predicate": "PartOf", "target": "YoungAdultStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "20YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "21-year-old human stage Young adult stage that refers to an adult who is over 21 and under 22. [{'predicate': 'PartOf', 'target': 'YoungAdultStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '20YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "21q2211Q2212_Human_", "label": "21q22.11-q22.12 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr21q22.11-q22.12", "relationships": [ { "predicate": "PartOf", "target": "21q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "21q22.11-q22.12 (Human) None [{'predicate': 'PartOf', 'target': '21q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "21q2211q2212MicrodeletionSyndrome", "label": "21q22.11q22.12 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0016845", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "21q2211Q2212_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome21" } ] }

{ "document": "21q22.11q22.12 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '21q2211Q2212_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome21'}]" }

{ "aliases": null, "definition": null, "id": "21q2213Q222_Human_", "label": "21q22.13-q22.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr21q22.13-q22.2", "relationships": [ { "predicate": "PartOf", "target": "21q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "21q22.13-q22.2 (Human) None [{'predicate': 'PartOf', 'target': '21q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "21q_Human_", "label": "21q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr21q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome21_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "21q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome21_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Young adult stage that refers to an adult who is over 22 and under 23.", "id": "22YearOldHumanStage", "label": "22-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000116", "relationships": [ { "predicate": "PartOf", "target": "YoungAdultStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "21YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "22-year-old human stage Young adult stage that refers to an adult who is over 22 and under 23. [{'predicate': 'PartOf', 'target': 'YoungAdultStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '21YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.", "id": "22q112DeletionSyndrome", "label": "22q11.2 deletion syndrome", "logical_definition": null, "original_id": "MONDO:0018923", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "22q112_Human_" }, { "predicate": "subClassOf", "target": "CongenitalNervousSystemDisorder" }, { "predicate": "subClassOf", "target": "HeartDisorder" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeVariableIntellectualDisabilitySyndrome" }, { "predicate": "subClassOf", "target": "SyndromicAnorectalMalformation" }, { "predicate": "subClassOf", "target": "BranchialArchOrOralAcralSyndrome" }, { "predicate": "subClassOf", "target": "PrimaryImmunodeficiencyDueToADefectInAdaptiveImmunity" }, { "predicate": "subClassOf", "target": "HereditarySyndromicPierreRobinSyndrome" }, { "predicate": "subClassOf", "target": "HereditaryOtorhinolaryngologicDisease" }, { "predicate": "subClassOf", "target": "Chromosome22qDeletion" } ] }

{ "document": "22q11.2 deletion syndrome 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. [{'predicate': 'DiseaseArisesFromStructure', 'target': '22q112_Human_'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'HeartDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeVariableIntellectualDisabilitySyndrome'}, {'predicate': 'subClassOf', 'target': 'SyndromicAnorectalMalformation'}, {'predicate': 'subClassOf', 'target': 'BranchialArchOrOralAcralSyndrome'}, {'predicate': 'subClassOf', 'target': 'PrimaryImmunodeficiencyDueToADefectInAdaptiveImmunity'}, {'predicate': 'subClassOf', 'target': 'HereditarySyndromicPierreRobinSyndrome'}, {'predicate': 'subClassOf', 'target': 'HereditaryOtorhinolaryngologicDisease'}, {'predicate': 'subClassOf', 'target': 'Chromosome22qDeletion'}]" }

{ "aliases": null, "definition": null, "id": "22q112_Human_", "label": "22q11.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr22q11.2", "relationships": [ { "predicate": "PartOf", "target": "22q11_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "22q11.2 (Human) None [{'predicate': 'PartOf', 'target': '22q11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "22q11_Human_", "label": "22q11 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr22q11", "relationships": [ { "predicate": "PartOf", "target": "22q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "22q11 (Human) None [{'predicate': 'PartOf', 'target': '22q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "22q13_Human_", "label": "22q13 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr22q13", "relationships": [ { "predicate": "PartOf", "target": "22q1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "22q13 (Human) None [{'predicate': 'PartOf', 'target': '22q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "22q1_Human_", "label": "22q1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr22q1", "relationships": [ { "predicate": "PartOf", "target": "22q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "22q1 (Human) None [{'predicate': 'PartOf', 'target': '22q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "22q_Human_", "label": "22q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr22q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome22_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "22q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome22_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Young adult stage that refers to an adult who is over 23 and under 24.", "id": "23YearOldHumanStage", "label": "23-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000117", "relationships": [ { "predicate": "PartOf", "target": "YoungAdultStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "22YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "23-year-old human stage Young adult stage that refers to an adult who is over 23 and under 24. [{'predicate': 'PartOf', 'target': 'YoungAdultStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '22YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22.", "id": "24G7Epitope", "label": "24G7 epitope", "logical_definition": null, "original_id": "CHEBI:142163", "relationships": [ { "predicate": "HasRole", "target": "Epitope" }, { "predicate": "subClassOf", "target": "Group" } ] }

{ "document": "24G7 epitope An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22. [{'predicate': 'HasRole', 'target': 'Epitope'}, {'predicate': 'subClassOf', 'target': 'Group'}]" }

{ "aliases": null, "definition": "Young adult stage that refers to an adult who is over 24 and under 25.", "id": "24YearOldHumanStage", "label": "24-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000118", "relationships": [ { "predicate": "PartOf", "target": "YoungAdultStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "23YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "24-year-old human stage Young adult stage that refers to an adult who is over 24 and under 25. [{'predicate': 'PartOf', 'target': 'YoungAdultStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '23YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Early adulthood that refers to an adult who is over 25 and under 45.", "id": "2544YearOldHumanStage", "label": "25-44 year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000090", "relationships": [ { "predicate": "PartOf", "target": "HumanEarlyAdulthoodStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "YoungAdultStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "25-44 year-old human stage Early adulthood that refers to an adult who is over 25 and under 45. [{'predicate': 'PartOf', 'target': 'HumanEarlyAdulthoodStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': 'YoungAdultStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Child stage that refers to a child who is over 24 months and under 6 years old.", "id": "25YearOldChildStage", "label": "2-5 year-old child stage", "logical_definition": null, "original_id": "HsapDv:0000084", "relationships": [ { "predicate": "PartOf", "target": "ChildStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "2-5 year-old child stage Child stage that refers to a child who is over 24 months and under 6 years old. [{'predicate': 'PartOf', 'target': 'ChildStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 25 and under 26.", "id": "25YearOldHumanStage", "label": "25-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000119", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "24YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "25-year-old human stage Adult stage that refers to an adult who is over 25 and under 26. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '24YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adultwho is over 26 and under 27.", "id": "26YearOldHumanStage", "label": "26-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000120", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "25YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "26-year-old human stage Adult stage that refers to an adultwho is over 26 and under 27. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '25YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 27 and under 28.", "id": "27YearOldHumanStage", "label": "27-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000121", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "26YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "27-year-old human stage Adult stage that refers to an adult who is over 27 and under 28. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '26YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 28 and under 29.", "id": "28YearOldHumanStage", "label": "28-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000122", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "27YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "28-year-old human stage Adult stage that refers to an adult who is over 28 and under 29. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '27YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 29 and under 30.", "id": "29YearOldHumanStage", "label": "29-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000123", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "28YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "29-year-old human stage Adult stage that refers to an adult who is over 29 and under 30. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '28YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "2Aminoadipic2OxoadipicAciduria", "label": "2-aminoadipic 2-oxoadipic aciduria", "logical_definition": null, "original_id": "MONDO:0008774", "relationships": [ { "predicate": "HasMaterialBasisInGermlineMutationIn", "target": "DHTKD1" }, { "predicate": "subClassOf", "target": "InbornDisorderOfLysineAndHydroxylysineMetabolism" } ] }

{ "document": "2-aminoadipic 2-oxoadipic aciduria None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'DHTKD1'}, {'predicate': 'subClassOf', 'target': 'InbornDisorderOfLysineAndHydroxylysineMetabolism'}]" }

{ "aliases": null, "definition": "A 2-aminooctadecene-1,3-diol having its double bond at position 4.", "id": "2Aminooctadec4Ene13Diol", "label": "2-aminooctadec-4-ene-1,3-diol", "logical_definition": null, "original_id": "CHEBI:46964", "relationships": [ { "predicate": "subClassOf", "target": "2Aminooctadecene13Diol" } ] }

{ "document": "2-aminooctadec-4-ene-1,3-diol A 2-aminooctadecene-1,3-diol having its double bond at position 4. [{'predicate': 'subClassOf', 'target': '2Aminooctadecene13Diol'}]" }

{ "aliases": null, "definition": "An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2.", "id": "2Aminooctadecene13Diol", "label": "2-aminooctadecene-1,3-diol", "logical_definition": null, "original_id": "CHEBI:46963", "relationships": [ { "predicate": "subClassOf", "target": "Aminodiol" }, { "predicate": "subClassOf", "target": "Sphingoid" } ] }

{ "document": "2-aminooctadecene-1,3-diol An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2. [{'predicate': 'subClassOf', 'target': 'Aminodiol'}, {'predicate': 'subClassOf', 'target': 'Sphingoid'}]" }

{ "aliases": null, "definition": null, "id": "2CarboxyethylGroup", "label": "2-carboxyethyl group", "logical_definition": null, "original_id": "CHEBI:50329", "relationships": [ { "predicate": "subClassOf", "target": "ProteinogenicAminoAcidSideChainGroup" } ] }

{ "document": "2-carboxyethyl group None [{'predicate': 'subClassOf', 'target': 'ProteinogenicAminoAcidSideChainGroup'}]" }

{ "aliases": null, "definition": "a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity", "id": "2DBoundaryOf", "label": "2D boundary of", "logical_definition": null, "original_id": "RO:0002000", "relationships": [ { "predicate": "subPropertyOf", "target": "MereotopologicallyRelatedTo" }, { "predicate": "owl:inverseOf", "target": "Has2DBoundary" } ] }

{ "document": "2D boundary of a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity [{'predicate': 'subPropertyOf', 'target': 'MereotopologicallyRelatedTo'}, {'predicate': 'owl:inverseOf', 'target': 'Has2DBoundary'}]" }

{ "aliases": null, "definition": "A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity.", "id": "2DShape", "label": "2-D shape", "logical_definition": null, "original_id": "PATO:0002006", "relationships": [ { "predicate": "subClassOf", "target": "Shape" } ] }

{ "document": "2-D shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. [{'predicate': 'subClassOf', 'target': 'Shape'}]" }

{ "aliases": null, "definition": null, "id": "2HydroxyethylMethacrylateSensitization", "label": "2-hydroxyethyl methacrylate sensitization", "logical_definition": null, "original_id": "MONDO:0022323", "relationships": [ { "predicate": "subClassOf", "target": "AllergicContactDermatitis" } ] }

{ "document": "2-hydroxyethyl methacrylate sensitization None [{'predicate': 'subClassOf', 'target': 'AllergicContactDermatitis'}]" }

{ "aliases": null, "definition": "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.", "id": "2HydroxyglutaricAciduria", "label": "2-hydroxyglutaric aciduria", "logical_definition": null, "original_id": "MONDO:0016001", "relationships": [ { "predicate": "subClassOf", "target": "CerebralOrganicAciduria" } ] }

{ "document": "2-hydroxyglutaric aciduria 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. [{'predicate': 'subClassOf', 'target': 'CerebralOrganicAciduria'}]" }

{ "aliases": null, "definition": null, "id": "2MethylacetoacetylCoAThiolaseDeficiency", "label": "2-methylacetoacetyl CoA thiolase deficiency", "logical_definition": null, "original_id": "MONDO:0022321", "relationships": [ { "predicate": "subClassOf", "target": "InbornDisorderOfAminoAcidMetabolism" } ] }

{ "document": "2-methylacetoacetyl CoA thiolase deficiency None [{'predicate': 'subClassOf', 'target': 'InbornDisorderOfAminoAcidMetabolism'}]" }

{ "aliases": null, "definition": "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.", "id": "2MethylbutyrylCoADehydrogenaseDeficiency", "label": "2-methylbutyryl-CoA dehydrogenase deficiency", "logical_definition": null, "original_id": "MONDO:0012392", "relationships": [ { "predicate": "HasMaterialBasisInGermlineMutationIn", "target": "ACADSB" }, { "predicate": "subClassOf", "target": "ClassicOrganicAciduria" } ] }

{ "document": "2-methylbutyryl-CoA dehydrogenase deficiency A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ACADSB'}, {'predicate': 'subClassOf', 'target': 'ClassicOrganicAciduria'}]" }

{ "aliases": null, "definition": "Child stage that refers to a child who is over 2 and under 3 years old.", "id": "2YearOldHumanStage", "label": "2-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000096", "relationships": [ { "predicate": "PartOf", "target": "25YearOldChildStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "2-year-old human stage Child stage that refers to a child who is over 2 and under 3 years old. [{'predicate': 'PartOf', 'target': '25YearOldChildStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": null, "id": "2ndArchEctoderm", "label": "2nd arch ectoderm", "logical_definition": null, "original_id": "UBERON:0005660", "relationships": [ { "predicate": "PartOf", "target": "PharyngealArch2" }, { "predicate": "subClassOf", "target": "Ectoderm" } ] }

{ "document": "2nd arch ectoderm None [{'predicate': 'PartOf', 'target': 'PharyngealArch2'}, {'predicate': 'subClassOf', 'target': 'Ectoderm'}]" }

{ "aliases": null, "definition": null, "id": "2ndArchEndoderm", "label": "2nd arch endoderm", "logical_definition": null, "original_id": "UBERON:0005664", "relationships": [ { "predicate": "PartOf", "target": "PharyngealArch2" }, { "predicate": "subClassOf", "target": "Endoderm" } ] }

{ "document": "2nd arch endoderm None [{'predicate': 'PartOf', 'target': 'PharyngealArch2'}, {'predicate': 'subClassOf', 'target': 'Endoderm'}]" }

{ "aliases": null, "definition": null, "id": "2ndArchMesenchyme", "label": "2nd arch mesenchyme", "logical_definition": null, "original_id": "UBERON:0005689", "relationships": [ { "predicate": "PartOf", "target": "PharyngealArch2" }, { "predicate": "subClassOf", "target": "PharyngealArchMesenchymalRegion" } ] }

{ "document": "2nd arch mesenchyme None [{'predicate': 'PartOf', 'target': 'PharyngealArch2'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2ndArchMesenchymeFromHeadMesenchyme", "label": "2nd arch mesenchyme from head mesenchyme", "logical_definition": null, "original_id": "UBERON:0010343", "relationships": [ { "predicate": "PartOf", "target": "2ndArchMesenchyme" }, { "predicate": "subClassOf", "target": "2ndArchMesenchyme" }, { "predicate": "subClassOf", "target": "HeadMesenchymeFromMesoderm" }, { "predicate": "subClassOf", "target": "PharyngealArchMesenchymeFromHeadMesenchyme" } ] }

{ "document": "2nd arch mesenchyme from head mesenchyme None [{'predicate': 'PartOf', 'target': '2ndArchMesenchyme'}, {'predicate': 'subClassOf', 'target': '2ndArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'HeadMesenchymeFromMesoderm'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromHeadMesenchyme'}]" }

{ "aliases": null, "definition": null, "id": "2ndArchMesenchymeFromNeuralCrest", "label": "2nd arch mesenchyme from neural crest", "logical_definition": null, "original_id": "UBERON:0010254", "relationships": [ { "predicate": "PartOf", "target": "2ndArchMesenchyme" }, { "predicate": "PartOf", "target": "MesenchymeFromRhombencephalicNeuralCrest" }, { "predicate": "DevelopsFrom", "target": "HyoidNeuralCrest" }, { "predicate": "subClassOf", "target": "2ndArchMesenchyme" }, { "predicate": "subClassOf", "target": "MesenchymeDerivedFromHeadNeuralCrest" }, { "predicate": "subClassOf", "target": "PharyngealArchMesenchymeFromNeuralCrest" } ] }

{ "document": "2nd arch mesenchyme from neural crest None [{'predicate': 'PartOf', 'target': '2ndArchMesenchyme'}, {'predicate': 'PartOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'DevelopsFrom', 'target': 'HyoidNeuralCrest'}, {'predicate': 'subClassOf', 'target': '2ndArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'MesenchymeDerivedFromHeadNeuralCrest'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromNeuralCrest'}]" }

{ "aliases": null, "definition": null, "id": "2ndArchPharyngealCleft", "label": "2nd arch pharyngeal cleft", "logical_definition": null, "original_id": "UBERON:0005873", "relationships": [ { "predicate": "Overlaps", "target": "PharyngealArch2" }, { "predicate": "Overlaps", "target": "PharyngealArch3" }, { "predicate": "subClassOf", "target": "PharyngealCleft" } ] }

{ "document": "2nd arch pharyngeal cleft None [{'predicate': 'Overlaps', 'target': 'PharyngealArch2'}, {'predicate': 'Overlaps', 'target': 'PharyngealArch3'}, {'predicate': 'subClassOf', 'target': 'PharyngealCleft'}]" }

{ "aliases": null, "definition": null, "id": "2p12P112_Human_", "label": "2p12-p11.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p12-p11.2", "relationships": [ { "predicate": "PartOf", "target": "2p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

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

{ "aliases": null, "definition": "2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.", "id": "2p132MicrodeletionSyndrome", "label": "2p13.2 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0018207", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2p132_Human_" }, { "predicate": "subClassOf", "target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheShortArmOfChromosome2" } ] }

{ "document": "2p13.2 microdeletion syndrome 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2p132_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome2'}]" }

{ "aliases": null, "definition": null, "id": "2p132_Human_", "label": "2p13.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p13.2", "relationships": [ { "predicate": "PartOf", "target": "2p13_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p13.2 (Human) None [{'predicate': 'PartOf', 'target': '2p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2p13_Human_", "label": "2p13 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p13", "relationships": [ { "predicate": "PartOf", "target": "2p1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p13 (Human) None [{'predicate': 'PartOf', 'target': '2p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2p161P15_Human_", "label": "2p16.1-p15 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p16.1-p15", "relationships": [ { "predicate": "PartOf", "target": "2p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p16.1-p15 (Human) None [{'predicate': 'PartOf', 'target': '2p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2p163_Human_", "label": "2p16.3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p16.3", "relationships": [ { "predicate": "PartOf", "target": "2p16_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p16.3 (Human) None [{'predicate': 'PartOf', 'target': '2p16_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2p16_Human_", "label": "2p16 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p16", "relationships": [ { "predicate": "PartOf", "target": "2p1_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p16 (Human) None [{'predicate': 'PartOf', 'target': '2p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2p1_Human_", "label": "2p1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p1", "relationships": [ { "predicate": "PartOf", "target": "2p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p1 (Human) None [{'predicate': 'PartOf', 'target': '2p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.", "id": "2p21MicrodeletionSyndrome", "label": "2p21 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0015583", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2p21_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheShortArmOfChromosome2" } ] }

{ "document": "2p21 microdeletion syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2p21_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome2'}]" }

{ "aliases": null, "definition": "2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.", "id": "2p21MicrodeletionSyndromeWithoutCystinuria", "label": "2p21 microdeletion syndrome without cystinuria", "logical_definition": null, "original_id": "MONDO:0018245", "relationships": [ { "predicate": "subClassOf", "target": "Homozygous2p21MicrodeletionSyndrome" } ] }

{ "document": "2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. [{'predicate': 'subClassOf', 'target': 'Homozygous2p21MicrodeletionSyndrome'}]" }

{ "aliases": null, "definition": null, "id": "2p21_Human_", "label": "2p21 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p21", "relationships": [ { "predicate": "PartOf", "target": "2p2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p21 (Human) None [{'predicate': 'PartOf', 'target': '2p2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2p2_Human_", "label": "2p2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p2", "relationships": [ { "predicate": "PartOf", "target": "2p_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p2 (Human) None [{'predicate': 'PartOf', 'target': '2p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2p_Human_", "label": "2p (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2p", "relationships": [ { "predicate": "PartOf", "target": "Chromosome2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q22_Human_", "label": "2q22 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q22", "relationships": [ { "predicate": "PartOf", "target": "2q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q22 (Human) None [{'predicate': 'PartOf', 'target': '2q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.", "id": "2q231MicrodeletionSyndrome", "label": "2q23.1 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0016459", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2q231_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome2" } ] }

{ "document": "2q23.1 microdeletion syndrome The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2q231_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome2'}]" }

{ "aliases": null, "definition": "2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.", "id": "2q231MicroduplicationSyndrome", "label": "2q23.1 microduplication syndrome", "logical_definition": null, "original_id": "MONDO:0017786", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2q231_Human_" }, { "predicate": "subClassOf", "target": "PartialDuplicationOfTheLongArmOfChromosome2" } ] }

{ "document": "2q23.1 microduplication syndrome 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2q231_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome2'}]" }

{ "aliases": null, "definition": null, "id": "2q231_Human_", "label": "2q23.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q23.1", "relationships": [ { "predicate": "PartOf", "target": "2q23_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q23.1 (Human) None [{'predicate': 'PartOf', 'target': '2q23_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q23_Human_", "label": "2q23 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q23", "relationships": [ { "predicate": "PartOf", "target": "2q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q23 (Human) None [{'predicate': 'PartOf', 'target': '2q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.", "id": "2q24MicrodeletionSyndrome", "label": "2q24 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0015566", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2q24_Human_" }, { "predicate": "DiseaseHasMajorFeature", "target": "Cataract_MONDO:0005129" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome2" } ] }

{ "document": "2q24 microdeletion syndrome 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2q24_Human_'}, {'predicate': 'DiseaseHasMajorFeature', 'target': 'Cataract_MONDO:0005129'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome2'}]" }

{ "aliases": null, "definition": null, "id": "2q24_Human_", "label": "2q24 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q24", "relationships": [ { "predicate": "PartOf", "target": "2q2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q24 (Human) None [{'predicate': 'PartOf', 'target': '2q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q2_Human_", "label": "2q2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q2", "relationships": [ { "predicate": "PartOf", "target": "2q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q2 (Human) None [{'predicate': 'PartOf', 'target': '2q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.", "id": "2q311MicrodeletionSyndrome", "label": "2q31.1 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0016652", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2q311_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome2" } ] }

{ "document": "2q31.1 microdeletion syndrome 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2q311_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome2'}]" }

{ "aliases": null, "definition": null, "id": "2q311_Human_", "label": "2q31.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q31.1", "relationships": [ { "predicate": "PartOf", "target": "2q31_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q31.1 (Human) None [{'predicate': 'PartOf', 'target': '2q31_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q312_Human_", "label": "2q31.2 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q31.2", "relationships": [ { "predicate": "PartOf", "target": "2q31_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q31.2 (Human) None [{'predicate': 'PartOf', 'target': '2q31_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q31_Human_", "label": "2q31 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q31", "relationships": [ { "predicate": "PartOf", "target": "2q3_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q31 (Human) None [{'predicate': 'PartOf', 'target': '2q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q32Q33_Human_", "label": "2q32-q33 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q32-q33", "relationships": [ { "predicate": "PartOf", "target": "2q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q32-q33 (Human) None [{'predicate': 'PartOf', 'target': '2q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.", "id": "2q331MicrodeletionSyndrome", "label": "2q33.1 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0016653", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2q331_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome2" } ] }

{ "document": "2q33.1 microdeletion syndrome 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2q331_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome2'}]" }

{ "aliases": null, "definition": null, "id": "2q331_Human_", "label": "2q33.1 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q33.1", "relationships": [ { "predicate": "PartOf", "target": "2q33_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q33.1 (Human) None [{'predicate': 'PartOf', 'target': '2q33_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q33_Human_", "label": "2q33 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q33", "relationships": [ { "predicate": "PartOf", "target": "2q3_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q33 (Human) None [{'predicate': 'PartOf', 'target': '2q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q35_Human_", "label": "2q35 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q35", "relationships": [ { "predicate": "PartOf", "target": "2q3_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q35 (Human) None [{'predicate': 'PartOf', 'target': '2q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.", "id": "2q37MicrodeletionSyndrome", "label": "2q37 microdeletion syndrome", "logical_definition": null, "original_id": "MONDO:0010886", "relationships": [ { "predicate": "DiseaseArisesFromStructure", "target": "2q37_Human_" }, { "predicate": "subClassOf", "target": "PartialDeletionOfTheLongArmOfChromosome2" }, { "predicate": "subClassOf", "target": "DysostosisOfGeneticOrigin" }, { "predicate": "subClassOf", "target": "CongenitalLimbMalformation" }, { "predicate": "subClassOf", "target": "DysostosisWithBrachydactylyWithExtraskeletalManifestations" } ] }

{ "document": "2q37 microdeletion syndrome A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. [{'predicate': 'DiseaseArisesFromStructure', 'target': '2q37_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome2'}, {'predicate': 'subClassOf', 'target': 'DysostosisOfGeneticOrigin'}, {'predicate': 'subClassOf', 'target': 'CongenitalLimbMalformation'}, {'predicate': 'subClassOf', 'target': 'DysostosisWithBrachydactylyWithExtraskeletalManifestations'}]" }

{ "aliases": null, "definition": null, "id": "2q37_Human_", "label": "2q37 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q37", "relationships": [ { "predicate": "PartOf", "target": "2q3_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q37 (Human) None [{'predicate': 'PartOf', 'target': '2q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q3_Human_", "label": "2q3 (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q3", "relationships": [ { "predicate": "PartOf", "target": "2q_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q3 (Human) None [{'predicate': 'PartOf', 'target': '2q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": null, "id": "2q_Human_", "label": "2q (Human)", "logical_definition": null, "original_id": "CHR:9606-chr2q", "relationships": [ { "predicate": "PartOf", "target": "Chromosome2_Human_" }, { "predicate": "InTaxon", "target": "HomoSapiens" }, { "predicate": "subClassOf", "target": "ChromosomalRegion" } ] }

{ "document": "2q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 30 and under 31.", "id": "30YearOldHumanStage", "label": "30-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000124", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "29YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "30-year-old human stage Adult stage that refers to an adult who is over 30 and under 31. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '29YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 31 and under 32.", "id": "31YearOldHumanStage", "label": "31-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000125", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "30YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "31-year-old human stage Adult stage that refers to an adult who is over 31 and under 32. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '30YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 32 and under 33.", "id": "32YearOldHumanStage", "label": "32-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000126", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "31YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "32-year-old human stage Adult stage that refers to an adult who is over 32 and under 33. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '31YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 33 and under 34.", "id": "33YearOldHumanStage", "label": "33-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000127", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "32YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "33-year-old human stage Adult stage that refers to an adult who is over 33 and under 34. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '32YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 34 and under 35.", "id": "34YearOldHumanStage", "label": "34-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000128", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "33YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "34-year-old human stage Adult stage that refers to an adult who is over 34 and under 35. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '33YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 35 and under 36.", "id": "35YearOldHumanStage", "label": "35-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000129", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "34YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "35-year-old human stage Adult stage that refers to an adult who is over 35 and under 36. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '34YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 36 and under 37.", "id": "36YearOldHumanStage", "label": "36-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000130", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "35YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "36-year-old human stage Adult stage that refers to an adult who is over 36 and under 37. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '35YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 37 and under 38.", "id": "37YearOldHumanStage", "label": "37-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000131", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "36YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "37-year-old human stage Adult stage that refers to an adult who is over 37 and under 38. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '36YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 38 and under 39.", "id": "38YearOldHumanStage", "label": "38-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000132", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "37YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "38-year-old human stage Adult stage that refers to an adult who is over 38 and under 39. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '37YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Adult stage that refers to an adult who is over 39 and under 40.", "id": "39YearOldHumanStage", "label": "39-year-old human stage", "logical_definition": null, "original_id": "HsapDv:0000133", "relationships": [ { "predicate": "PartOf", "target": "2544YearOldHumanStage" }, { "predicate": "ImmediatelyPrecededBy", "target": "38YearOldHumanStage" }, { "predicate": "subClassOf", "target": "HumanLifeCycleStage" } ] }

{ "document": "39-year-old human stage Adult stage that refers to an adult who is over 39 and under 40. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '38YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]" }

{ "aliases": null, "definition": "Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH.", "id": "3BetaHydroxysteroidDehydrogenaseC4DecarboxylaseActivity", "label": "3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity", "logical_definition": null, "original_id": "GO:0102175", "relationships": [ { "predicate": "subClassOf", "target": "OxidoreductaseActivity_actingOnTheCHOHGroupOfDonors_NADOrNADPAsAcceptor" } ] }

{ "document": "3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH. [{'predicate': 'subClassOf', 'target': 'OxidoreductaseActivity_actingOnTheCHOHGroupOfDonors_NADOrNADPAsAcceptor'}]" }

{ "aliases": null, "definition": "A shape that inheres in a 3 dimensional entity.", "id": "3DShape", "label": "3-D shape", "logical_definition": null, "original_id": "PATO:0002266", "relationships": [ { "predicate": "subClassOf", "target": "Shape" } ] }

{ "document": "3-D shape A shape that inheres in a 3 dimensional entity. [{'predicate': 'subClassOf', 'target': 'Shape'}]" }

{ "aliases": null, "definition": "3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.", "id": "3Hydroxy3MethylglutaricAciduria", "label": "3-hydroxy-3-methylglutaric aciduria", "logical_definition": null, "original_id": "MONDO:0009520", "relationships": [ { "predicate": "HasMaterialBasisInGermlineMutationIn", "target": "HMGCL" }, { "predicate": "subClassOf", "target": "DisorderOfFattyAcidOxidationAndKetogenesis" }, { "predicate": "subClassOf", "target": "ClassicOrganicAciduria" } ] }

{ "document": "3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HMGCL'}, {'predicate': 'subClassOf', 'target': 'DisorderOfFattyAcidOxidationAndKetogenesis'}, {'predicate': 'subClassOf', 'target': 'ClassicOrganicAciduria'}]" }

{ "aliases": null, "definition": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.", "id": "3Hydroxy3MethylglutarylCoASynthaseDeficiency", "label": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "logical_definition": null, "original_id": "MONDO:0011614", "relationships": [ { "predicate": "HasMaterialBasisInGermlineMutationIn", "target": "HMGCS2" }, { "predicate": "subClassOf", "target": "DisorderOfFattyAcidOxidationAndKetogenesis" } ] }

{ "document": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HMGCS2'}, {'predicate': 'subClassOf', 'target': 'DisorderOfFattyAcidOxidationAndKetogenesis'}]" }

{ "aliases": null, "definition": null, "id": "3HydroxyacylCoADehydrogenaseDeficiency", "label": "3-hydroxyacyl-CoA dehydrogenase deficiency", "logical_definition": null, "original_id": "MONDO:0017715", "relationships": [ { "predicate": "subClassOf", "target": "DisorderOfFattyAcidOxidationAndKetogenesis" } ] }

{ "document": "3-hydroxyacyl-CoA dehydrogenase deficiency None [{'predicate': 'subClassOf', 'target': 'DisorderOfFattyAcidOxidationAndKetogenesis'}]" }

{ "aliases": null, "definition": "3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.", "id": "3HydroxyisobutyricAciduria", "label": "3-hydroxyisobutyric aciduria", "logical_definition": null, "original_id": "MONDO:0009371", "relationships": [ { "predicate": "subClassOf", "target": "ClassicOrganicAciduria" }, { "predicate": "subClassOf", "target": "InbornDisorderOfBranchedChainAminoAcidMetabolism" }, { "predicate": "subClassOf", "target": "ValineMetabolismDisease" } ] }

{ "document": "3-hydroxyisobutyric aciduria 3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive. [{'predicate': 'subClassOf', 'target': 'ClassicOrganicAciduria'}, {'predicate': 'subClassOf', 'target': 'InbornDisorderOfBranchedChainAminoAcidMetabolism'}, {'predicate': 'subClassOf', 'target': 'ValineMetabolismDisease'}]" }