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dict | 1
float64 0
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{
"aliases": null,
"definition": null,
"id": "16p132_Human_",
"label": "16p13.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16p13.2",
"relationships": [
{
"predicate": "PartOf",
"target": "16p13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16p13.2 (Human) None [{'predicate': 'PartOf', 'target': '16p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16p133_Human_",
"label": "16p13.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16p13.3",
"relationships": [
{
"predicate": "PartOf",
"target": "16p13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16p13.3 (Human) None [{'predicate': 'PartOf', 'target': '16p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16p13_Human_",
"label": "16p13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16p13",
"relationships": [
{
"predicate": "PartOf",
"target": "16p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16p13 (Human) None [{'predicate': 'PartOf', 'target': '16p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16p1_Human_",
"label": "16p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16p1",
"relationships": [
{
"predicate": "PartOf",
"target": "16p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16p1 (Human) None [{'predicate': 'PartOf', 'target': '16p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16p_Human_",
"label": "16p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome16_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome16_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16q22_Human_",
"label": "16q22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16q22",
"relationships": [
{
"predicate": "PartOf",
"target": "16q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16q22 (Human) None [{'predicate': 'PartOf', 'target': '16q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).",
"id": "16q241MicrodeletionSyndrome",
"label": "16q24.1 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0018127",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "16q241_Human_"
},
{
"predicate": "subClassOf",
"target": "RespiratorySystemDisorder"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome16"
}
]
} | 0 | {
"document": "16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). [{'predicate': 'DiseaseArisesFromStructure', 'target': '16q241_Human_'}, {'predicate': 'subClassOf', 'target': 'RespiratorySystemDisorder'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome16'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16q241_Human_",
"label": "16q24.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16q24.1",
"relationships": [
{
"predicate": "PartOf",
"target": "16q24_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16q24.1 (Human) None [{'predicate': 'PartOf', 'target': '16q24_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.",
"id": "16q243MicrodeletionSyndrome",
"label": "16q24.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016838",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "16q243_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome16"
}
]
} | 0 | {
"document": "16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. [{'predicate': 'DiseaseArisesFromStructure', 'target': '16q243_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome16'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16q243_Human_",
"label": "16q24.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16q24.3",
"relationships": [
{
"predicate": "PartOf",
"target": "16q24_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16q24.3 (Human) None [{'predicate': 'PartOf', 'target': '16q24_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16q24_Human_",
"label": "16q24 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16q24",
"relationships": [
{
"predicate": "PartOf",
"target": "16q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16q24 (Human) None [{'predicate': 'PartOf', 'target': '16q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16q2_Human_",
"label": "16q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16q2",
"relationships": [
{
"predicate": "PartOf",
"target": "16q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16q2 (Human) None [{'predicate': 'PartOf', 'target': '16q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "16q_Human_",
"label": "16q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr16q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome16_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "16q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome16_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1720LyaseDeficiency_isolated",
"label": "17,20-lyase deficiency, isolated",
"logical_definition": null,
"original_id": "MONDO:0800378",
"relationships": [
{
"predicate": "subClassOf",
"target": "EndocrineSystemDisorder"
}
]
} | 0 | {
"document": "17,20-lyase deficiency, isolated None [{'predicate': 'subClassOf', 'target': 'EndocrineSystemDisorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17AlphaHydroxylase1720LyaseDeficiency_combinedComplete",
"label": "17-alpha-hydroxylase/17,20-lyase deficiency, combined complete",
"logical_definition": null,
"original_id": "MONDO:0800379",
"relationships": [
{
"predicate": "subClassOf",
"target": "EndocrineSystemDisorder"
}
]
} | 0 | {
"document": "17-alpha-hydroxylase/17,20-lyase deficiency, combined complete None [{'predicate': 'subClassOf', 'target': 'EndocrineSystemDisorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17AlphaHydroxylase1720LyaseDeficiency_combinedPartial",
"label": "17-alpha-hydroxylase/17,20-lyase deficiency, combined partial",
"logical_definition": null,
"original_id": "MONDO:0800380",
"relationships": [
{
"predicate": "subClassOf",
"target": "EndocrineSystemDisorder"
}
]
} | 0 | {
"document": "17-alpha-hydroxylase/17,20-lyase deficiency, combined partial None [{'predicate': 'subClassOf', 'target': 'EndocrineSystemDisorder'}]"
} |
{
"aliases": null,
"definition": "Adolescent stage that refers to an adolescent who is over 17 and under 18 years old.",
"id": "17YearOldHumanStage",
"label": "17-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000111",
"relationships": [
{
"predicate": "PartOf",
"target": "AdolescentStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "16YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "17-year-old human stage Adolescent stage that refers to an adolescent who is over 17 and under 18 years old. [{'predicate': 'PartOf', 'target': 'AdolescentStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '16YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17p131_Human_",
"label": "17p13.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17p13.1",
"relationships": [
{
"predicate": "PartOf",
"target": "17p13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17p13.1 (Human) None [{'predicate': 'PartOf', 'target': '17p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17p133_Human_",
"label": "17p13.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17p13.3",
"relationships": [
{
"predicate": "PartOf",
"target": "17p13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17p13.3 (Human) None [{'predicate': 'PartOf', 'target': '17p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17p13_Human_",
"label": "17p13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17p13",
"relationships": [
{
"predicate": "PartOf",
"target": "17p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17p13 (Human) None [{'predicate': 'PartOf', 'target': '17p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17p1_Human_",
"label": "17p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17p1",
"relationships": [
{
"predicate": "PartOf",
"target": "17p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17p1 (Human) None [{'predicate': 'PartOf', 'target': '17p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17p_Human_",
"label": "17p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome17_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome17_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.",
"id": "17q112MicroduplicationSyndrome",
"label": "17q11.2 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0015350",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "17q112_Human_"
},
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheLongArmOfChromosome17"
}
]
} | 0 | {
"document": "17q11.2 microduplication syndrome 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. [{'predicate': 'DiseaseArisesFromStructure', 'target': '17q112_Human_'}, {'predicate': 'subClassOf', 'target': 'HereditaryDisease'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome17'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q112_Human_",
"label": "17q11.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q11.2",
"relationships": [
{
"predicate": "PartOf",
"target": "17q11_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q11.2 (Human) None [{'predicate': 'PartOf', 'target': '17q11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q11_Human_",
"label": "17q11 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q11",
"relationships": [
{
"predicate": "PartOf",
"target": "17q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q11 (Human) None [{'predicate': 'PartOf', 'target': '17q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q12_Human_",
"label": "17q12 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q12",
"relationships": [
{
"predicate": "PartOf",
"target": "17q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q12 (Human) None [{'predicate': 'PartOf', 'target': '17q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q1_Human_",
"label": "17q1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q1",
"relationships": [
{
"predicate": "PartOf",
"target": "17q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q1 (Human) None [{'predicate': 'PartOf', 'target': '17q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q2131_Human_",
"label": "17q21.31 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q21.31",
"relationships": [
{
"predicate": "PartOf",
"target": "17q213_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q21.31 (Human) None [{'predicate': 'PartOf', 'target': '17q213_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q213_Human_",
"label": "17q21.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q21.3",
"relationships": [
{
"predicate": "PartOf",
"target": "17q21_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q21.3 (Human) None [{'predicate': 'PartOf', 'target': '17q21_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q21_Human_",
"label": "17q21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q21",
"relationships": [
{
"predicate": "PartOf",
"target": "17q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q21 (Human) None [{'predicate': 'PartOf', 'target': '17q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q231Q232_Human_",
"label": "17q23.1-q23.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q23.1-q23.2",
"relationships": [
{
"predicate": "PartOf",
"target": "17q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q23.1-q23.2 (Human) None [{'predicate': 'PartOf', 'target': '17q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.",
"id": "17q242MicrodeletionSyndrome",
"label": "17q24.2 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0035151",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "17q242_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome17"
}
]
} | 0 | {
"document": "17q24.2 microdeletion syndrome A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders. [{'predicate': 'DiseaseArisesFromStructure', 'target': '17q242_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome17'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q242_Human_",
"label": "17q24.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q24.2",
"relationships": [
{
"predicate": "PartOf",
"target": "17q24_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q24.2 (Human) None [{'predicate': 'PartOf', 'target': '17q24_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q24_Human_",
"label": "17q24 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q24",
"relationships": [
{
"predicate": "PartOf",
"target": "17q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q24 (Human) None [{'predicate': 'PartOf', 'target': '17q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q2_Human_",
"label": "17q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q2",
"relationships": [
{
"predicate": "PartOf",
"target": "17q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q2 (Human) None [{'predicate': 'PartOf', 'target': '17q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "17q_Human_",
"label": "17q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr17q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome17_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "17q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome17_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Adolescent stage that refers to an adolescent who is over 18 and under 19 years old.",
"id": "18YearOldHumanStage",
"label": "18-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000112",
"relationships": [
{
"predicate": "PartOf",
"target": "AdolescentStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "17YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "18-year-old human stage Adolescent stage that refers to an adolescent who is over 18 and under 19 years old. [{'predicate': 'PartOf', 'target': 'AdolescentStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '17YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": null,
"id": "18p_Human_",
"label": "18p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr18p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome18_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "18p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome18_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "18q_Human_",
"label": "18q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr18q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome18_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "18q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome18_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Young adult stage that refers to an adult who is under 20.",
"id": "19YearOldHumanStage",
"label": "19-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000113",
"relationships": [
{
"predicate": "PartOf",
"target": "YoungAdultStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "18YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "19-year-old human stage Young adult stage that refers to an adult who is under 20. [{'predicate': 'PartOf', 'target': 'YoungAdultStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '18YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.",
"id": "19p1312MicrodeletionSyndrome",
"label": "19p13.12 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016765",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "19p1312_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome19"
}
]
} | 0 | {
"document": "19p13.12 microdeletion syndrome 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. [{'predicate': 'DiseaseArisesFromStructure', 'target': '19p1312_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome19'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19p1312_Human_",
"label": "19p13.12 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19p13.12",
"relationships": [
{
"predicate": "PartOf",
"target": "19p131_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19p13.12 (Human) None [{'predicate': 'PartOf', 'target': '19p131_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19p1313_Human_",
"label": "19p13.13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19p13.13",
"relationships": [
{
"predicate": "PartOf",
"target": "19p131_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19p13.13 (Human) None [{'predicate': 'PartOf', 'target': '19p131_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19p131_Human_",
"label": "19p13.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19p13.1",
"relationships": [
{
"predicate": "PartOf",
"target": "19p13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19p13.1 (Human) None [{'predicate': 'PartOf', 'target': '19p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.",
"id": "19p133MicroduplicationSyndrome",
"label": "19p13.3 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0018658",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "19p133_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheShortArmOfChromosome19"
}
]
} | 0 | {
"document": "19p13.3 microduplication syndrome 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. [{'predicate': 'DiseaseArisesFromStructure', 'target': '19p133_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome19'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19p133_Human_",
"label": "19p13.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19p13.3",
"relationships": [
{
"predicate": "PartOf",
"target": "19p13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19p13.3 (Human) None [{'predicate': 'PartOf', 'target': '19p13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19p13_Human_",
"label": "19p13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19p13",
"relationships": [
{
"predicate": "PartOf",
"target": "19p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19p13 (Human) None [{'predicate': 'PartOf', 'target': '19p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19p1_Human_",
"label": "19p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19p1",
"relationships": [
{
"predicate": "PartOf",
"target": "19p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19p1 (Human) None [{'predicate': 'PartOf', 'target': '19p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19p_Human_",
"label": "19p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome19_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome19_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19q1311_Human_",
"label": "19q13.11 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19q13.11",
"relationships": [
{
"predicate": "PartOf",
"target": "19q131_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19q13.11 (Human) None [{'predicate': 'PartOf', 'target': '19q131_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19q131_Human_",
"label": "19q13.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19q13.1",
"relationships": [
{
"predicate": "PartOf",
"target": "19q13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19q13.1 (Human) None [{'predicate': 'PartOf', 'target': '19q13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19q13_Human_",
"label": "19q13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19q13",
"relationships": [
{
"predicate": "PartOf",
"target": "19q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19q13 (Human) None [{'predicate': 'PartOf', 'target': '19q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19q1_Human_",
"label": "19q1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19q1",
"relationships": [
{
"predicate": "PartOf",
"target": "19q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19q1 (Human) None [{'predicate': 'PartOf', 'target': '19q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "19q_Human_",
"label": "19q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr19q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome19_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "19q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome19_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group.",
"id": "1Phenylpropan2Amine",
"label": "1-phenylpropan-2-amine",
"logical_definition": null,
"original_id": "CHEBI:132233",
"relationships": [
{
"predicate": "subClassOf",
"target": "PrimaryAmine"
}
]
} | 0 | {
"document": "1-phenylpropan-2-amine A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group. [{'predicate': 'subClassOf', 'target': 'PrimaryAmine'}]"
} |
{
"aliases": null,
"definition": "Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+).",
"id": "1Pyrroline5CarboxylateDehydrogenaseActivity",
"label": "1-pyrroline-5-carboxylate dehydrogenase activity",
"logical_definition": null,
"original_id": "GO:0003842",
"relationships": [
{
"predicate": "subClassOf",
"target": "OxidoreductaseActivity_actingOnTheAldehydeOrOxoGroupOfDonors_NADOrNADPAsAcceptor"
}
]
} | 0 | {
"document": "1-pyrroline-5-carboxylate dehydrogenase activity Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). [{'predicate': 'subClassOf', 'target': 'OxidoreductaseActivity_actingOnTheAldehydeOrOxoGroupOfDonors_NADOrNADPAsAcceptor'}]"
} |
{
"aliases": null,
"definition": "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.",
"id": "1p213MicrodeletionSyndrome",
"label": "1p21.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0017405",
"relationships": [
{
"predicate": "DiseaseHasFeature",
"target": "Autism"
},
{
"predicate": "DiseaseArisesFromStructure",
"target": "1p213_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome1"
}
]
} | 0 | {
"document": "1p21.3 microdeletion syndrome 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. [{'predicate': 'DiseaseHasFeature', 'target': 'Autism'}, {'predicate': 'DiseaseArisesFromStructure', 'target': '1p213_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome1'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p213_Human_",
"label": "1p21.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p21.3",
"relationships": [
{
"predicate": "PartOf",
"target": "1p21_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p21.3 (Human) None [{'predicate': 'PartOf', 'target': '1p21_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p21_Human_",
"label": "1p21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p21",
"relationships": [
{
"predicate": "PartOf",
"target": "1p2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p21 (Human) None [{'predicate': 'PartOf', 'target': '1p2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p2_Human_",
"label": "1p2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p2",
"relationships": [
{
"predicate": "PartOf",
"target": "1p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p2 (Human) None [{'predicate': 'PartOf', 'target': '1p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p32P31_Human_",
"label": "1p32-p31 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p32-p31",
"relationships": [
{
"predicate": "PartOf",
"target": "1p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p32-p31 (Human) None [{'predicate': 'PartOf', 'target': '1p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p352MicrodeletionSyndrome",
"label": "1p35.2 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0018697",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "1p352_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome1"
}
]
} | 0 | {
"document": "1p35.2 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '1p352_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome1'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p352_Human_",
"label": "1p35.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p35.2",
"relationships": [
{
"predicate": "PartOf",
"target": "1p35_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p35.2 (Human) None [{'predicate': 'PartOf', 'target': '1p35_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p35_Human_",
"label": "1p35 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p35",
"relationships": [
{
"predicate": "PartOf",
"target": "1p3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p35 (Human) None [{'predicate': 'PartOf', 'target': '1p3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p36_Human_",
"label": "1p36 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p36",
"relationships": [
{
"predicate": "PartOf",
"target": "1p3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p36 (Human) None [{'predicate': 'PartOf', 'target': '1p3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p3_Human_",
"label": "1p3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p3",
"relationships": [
{
"predicate": "PartOf",
"target": "1p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p3 (Human) None [{'predicate': 'PartOf', 'target': '1p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1p_Human_",
"label": "1p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q12Q21_Human_",
"label": "1q12-q21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q12-q21",
"relationships": [
{
"predicate": "PartOf",
"target": "1q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q12-q21 (Human) None [{'predicate': 'PartOf', 'target': '1q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q211_Human_",
"label": "1q21.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q21.1",
"relationships": [
{
"predicate": "PartOf",
"target": "1q21_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q21.1 (Human) None [{'predicate': 'PartOf', 'target': '1q21_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q21_Human_",
"label": "1q21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q21",
"relationships": [
{
"predicate": "PartOf",
"target": "1q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q21 (Human) None [{'predicate': 'PartOf', 'target': '1q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q2_Human_",
"label": "1q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q2",
"relationships": [
{
"predicate": "PartOf",
"target": "1q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q2 (Human) None [{'predicate': 'PartOf', 'target': '1q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q41Q42_Human_",
"label": "1q41-q42 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q41-q42",
"relationships": [
{
"predicate": "PartOf",
"target": "1q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q41-q42 (Human) None [{'predicate': 'PartOf', 'target': '1q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.",
"id": "1q44MicrodeletionSyndrome",
"label": "1q44 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016561",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "1q44_Human_"
},
{
"predicate": "subClassOf",
"target": "Chromosome1qDeletion"
}
]
} | 0 | {
"document": "1q44 microdeletion syndrome 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. [{'predicate': 'DiseaseArisesFromStructure', 'target': '1q44_Human_'}, {'predicate': 'subClassOf', 'target': 'Chromosome1qDeletion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q44_Human_",
"label": "1q44 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q44",
"relationships": [
{
"predicate": "PartOf",
"target": "1q4_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q44 (Human) None [{'predicate': 'PartOf', 'target': '1q4_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q4_Human_",
"label": "1q4 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q4",
"relationships": [
{
"predicate": "PartOf",
"target": "1q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q4 (Human) None [{'predicate': 'PartOf', 'target': '1q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1q_Human_",
"label": "1q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr1q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "1q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMandibularComponent",
"label": "1st arch mandibular component",
"logical_definition": null,
"original_id": "UBERON:0007237",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch1"
},
{
"predicate": "subClassOf",
"target": "EmbryonicStructure"
}
]
} | 0 | {
"document": "1st arch mandibular component None [{'predicate': 'PartOf', 'target': 'PharyngealArch1'}, {'predicate': 'subClassOf', 'target': 'EmbryonicStructure'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMandibularEndoderm",
"label": "1st arch mandibular endoderm",
"logical_definition": null,
"original_id": "UBERON:0013156",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMandibularComponent"
},
{
"predicate": "PartOf",
"target": "EntirePharyngealArchEndoderm"
},
{
"predicate": "DevelopsFrom",
"target": "PharyngealPouch1"
},
{
"predicate": "subClassOf",
"target": "EndodermOfForegut"
},
{
"predicate": "subClassOf",
"target": "EmbryonicTissue"
}
]
} | 0 | {
"document": "1st arch mandibular endoderm None [{'predicate': 'PartOf', 'target': '1stArchMandibularComponent'}, {'predicate': 'PartOf', 'target': 'EntirePharyngealArchEndoderm'}, {'predicate': 'DevelopsFrom', 'target': 'PharyngealPouch1'}, {'predicate': 'subClassOf', 'target': 'EndodermOfForegut'}, {'predicate': 'subClassOf', 'target': 'EmbryonicTissue'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMandibularMesenchyme",
"label": "1st arch mandibular mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0009584",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMandibularComponent"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchyme"
}
]
} | 0 | {
"document": "1st arch mandibular mesenchyme None [{'predicate': 'PartOf', 'target': '1stArchMandibularComponent'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMandibularMesenchymeFromHeadMesenchyme",
"label": "1st arch mandibular mesenchyme from head mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010339",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMandibularMesenchyme"
},
{
"predicate": "subClassOf",
"target": "1stArchMandibularMesenchyme"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchymeFromHeadMesenchyme"
}
]
} | 0 | {
"document": "1st arch mandibular mesenchyme from head mesenchyme None [{'predicate': 'PartOf', 'target': '1stArchMandibularMesenchyme'}, {'predicate': 'subClassOf', 'target': '1stArchMandibularMesenchyme'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchymeFromHeadMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMandibularMesenchymeFromNeuralCrest",
"label": "1st arch mandibular mesenchyme from neural crest",
"logical_definition": null,
"original_id": "UBERON:0010252",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMandibularMesenchyme"
},
{
"predicate": "PartOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "DevelopsFrom",
"target": "MandibularNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "1stArchMandibularMesenchyme"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchymeFromNeuralCrest"
}
]
} | 0 | {
"document": "1st arch mandibular mesenchyme from neural crest None [{'predicate': 'PartOf', 'target': '1stArchMandibularMesenchyme'}, {'predicate': 'PartOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'DevelopsFrom', 'target': 'MandibularNeuralCrest'}, {'predicate': 'subClassOf', 'target': '1stArchMandibularMesenchyme'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchymeFromNeuralCrest'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMaxillaryComponent",
"label": "1st arch maxillary component",
"logical_definition": null,
"original_id": "UBERON:0007238",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch1"
},
{
"predicate": "subClassOf",
"target": "EmbryonicStructure"
}
]
} | 0 | {
"document": "1st arch maxillary component None [{'predicate': 'PartOf', 'target': 'PharyngealArch1'}, {'predicate': 'subClassOf', 'target': 'EmbryonicStructure'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMaxillaryEctoderm",
"label": "1st arch maxillary ectoderm",
"logical_definition": null,
"original_id": "UBERON:0012313",
"relationships": [
{
"predicate": "PartOf",
"target": "ExternalEctoderm"
},
{
"predicate": "PartOf",
"target": "1stArchMaxillaryComponent"
},
{
"predicate": "DevelopsFrom",
"target": "ExternalEctoderm"
},
{
"predicate": "subClassOf",
"target": "UnilaminarEpithelium"
},
{
"predicate": "subClassOf",
"target": "EmbryonicTissue"
},
{
"predicate": "subClassOf",
"target": "ForegutEpithelium"
}
]
} | 0 | {
"document": "1st arch maxillary ectoderm None [{'predicate': 'PartOf', 'target': 'ExternalEctoderm'}, {'predicate': 'PartOf', 'target': '1stArchMaxillaryComponent'}, {'predicate': 'DevelopsFrom', 'target': 'ExternalEctoderm'}, {'predicate': 'subClassOf', 'target': 'UnilaminarEpithelium'}, {'predicate': 'subClassOf', 'target': 'EmbryonicTissue'}, {'predicate': 'subClassOf', 'target': 'ForegutEpithelium'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMaxillaryMesenchyme",
"label": "1st arch maxillary mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010045",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMaxillaryComponent"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchyme"
}
]
} | 0 | {
"document": "1st arch maxillary mesenchyme None [{'predicate': 'PartOf', 'target': '1stArchMaxillaryComponent'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMaxillaryMesenchymeFromHeadMesenchyme",
"label": "1st arch maxillary mesenchyme from head mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010338",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMaxillaryMesenchyme"
},
{
"predicate": "subClassOf",
"target": "1stArchMaxillaryMesenchyme"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchymeFromHeadMesenchyme"
}
]
} | 0 | {
"document": "1st arch maxillary mesenchyme from head mesenchyme None [{'predicate': 'PartOf', 'target': '1stArchMaxillaryMesenchyme'}, {'predicate': 'subClassOf', 'target': '1stArchMaxillaryMesenchyme'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchymeFromHeadMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMaxillaryMesenchymeFromNeuralCrest",
"label": "1st arch maxillary mesenchyme from neural crest",
"logical_definition": null,
"original_id": "UBERON:0010253",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMaxillaryMesenchyme"
},
{
"predicate": "PartOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "1stArchMaxillaryMesenchyme"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchymeFromNeuralCrest"
}
]
} | 0 | {
"document": "1st arch maxillary mesenchyme from neural crest None [{'predicate': 'PartOf', 'target': '1stArchMaxillaryMesenchyme'}, {'predicate': 'PartOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'subClassOf', 'target': '1stArchMaxillaryMesenchyme'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchymeFromNeuralCrest'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMesenchyme",
"label": "1st arch mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010042",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch1"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymalRegion"
}
]
} | 0 | {
"document": "1st arch mesenchyme None [{'predicate': 'PartOf', 'target': 'PharyngealArch1'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMesenchymeFromHeadMesenchyme",
"label": "1st arch mesenchyme from head mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010341",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "HeadMesenchymeFromMesoderm"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromHeadMesenchyme"
}
]
} | 0 | {
"document": "1st arch mesenchyme from head mesenchyme None [{'predicate': 'PartOf', 'target': '1stArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'HeadMesenchymeFromMesoderm'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromHeadMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchMesenchymeFromNeuralCrest",
"label": "1st arch mesenchyme from neural crest",
"logical_definition": null,
"original_id": "UBERON:0010259",
"relationships": [
{
"predicate": "PartOf",
"target": "1stArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "1stArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromNeuralCrest"
}
]
} | 0 | {
"document": "1st arch mesenchyme from neural crest None [{'predicate': 'PartOf', 'target': '1stArchMesenchyme'}, {'predicate': 'subClassOf', 'target': '1stArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromNeuralCrest'}]"
} |
{
"aliases": null,
"definition": null,
"id": "1stArchPharyngealCleft",
"label": "1st arch pharyngeal cleft",
"logical_definition": null,
"original_id": "UBERON:0005872",
"relationships": [
{
"predicate": "Overlaps",
"target": "PharyngealArch2"
},
{
"predicate": "Overlaps",
"target": "PharyngealArch1"
},
{
"predicate": "subClassOf",
"target": "PharyngealCleft"
}
]
} | 0 | {
"document": "1st arch pharyngeal cleft None [{'predicate': 'Overlaps', 'target': 'PharyngealArch2'}, {'predicate': 'Overlaps', 'target': 'PharyngealArch1'}, {'predicate': 'subClassOf', 'target': 'PharyngealCleft'}]"
} |
{
"aliases": null,
"definition": "An oxo steroid carrying an oxo group at position 20.",
"id": "20OxoSteroid",
"label": "20-oxo steroid",
"logical_definition": null,
"original_id": "CHEBI:36885",
"relationships": [
{
"predicate": "subClassOf",
"target": "OxoSteroid"
}
]
} | 0 | {
"document": "20-oxo steroid An oxo steroid carrying an oxo group at position 20. [{'predicate': 'subClassOf', 'target': 'OxoSteroid'}]"
} |
{
"aliases": null,
"definition": "Young adult stage that refers to an adult who is over 20 and under 21.",
"id": "20YearOldHumanStage",
"label": "20-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000114",
"relationships": [
{
"predicate": "PartOf",
"target": "YoungAdultStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "19YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "Occurrent"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "20-year-old human stage Young adult stage that refers to an adult who is over 20 and under 21. [{'predicate': 'PartOf', 'target': 'YoungAdultStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '19YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'Occurrent'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.",
"id": "20p123MicrodeletionSyndrome",
"label": "20p12.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016841",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "20p123_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialMonosomyOfTheShortArmOfChromosome20"
}
]
} | 0 | {
"document": "20p12.3 microdeletion syndrome 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. [{'predicate': 'DiseaseArisesFromStructure', 'target': '20p123_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialMonosomyOfTheShortArmOfChromosome20'}]"
} |
{
"aliases": null,
"definition": null,
"id": "20p123_Human_",
"label": "20p12.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr20p12.3",
"relationships": [
{
"predicate": "PartOf",
"target": "20p12_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "20p12.3 (Human) None [{'predicate': 'PartOf', 'target': '20p12_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "20p12_Human_",
"label": "20p12 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr20p12",
"relationships": [
{
"predicate": "PartOf",
"target": "20p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "20p12 (Human) None [{'predicate': 'PartOf', 'target': '20p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.",
"id": "20p13MicrodeletionSyndrome",
"label": "20p13 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0017780",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "20p13_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialMonosomyOfTheShortArmOfChromosome20"
}
]
} | 0 | {
"document": "20p13 microdeletion syndrome 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. [{'predicate': 'DiseaseArisesFromStructure', 'target': '20p13_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialMonosomyOfTheShortArmOfChromosome20'}]"
} |
{
"aliases": null,
"definition": null,
"id": "20p13_Human_",
"label": "20p13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr20p13",
"relationships": [
{
"predicate": "PartOf",
"target": "20p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "20p13 (Human) None [{'predicate': 'PartOf', 'target': '20p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "20p1_Human_",
"label": "20p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr20p1",
"relationships": [
{
"predicate": "PartOf",
"target": "20p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "20p1 (Human) None [{'predicate': 'PartOf', 'target': '20p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "20p_Human_",
"label": "20p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr20p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome20_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "20p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome20_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.",
"id": "20q112MicrodeletionSyndrome",
"label": "20q11.2 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0018633",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "20q112_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome20"
}
]
} | 0 | {
"document": "20q11.2 microdeletion syndrome 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. [{'predicate': 'DiseaseArisesFromStructure', 'target': '20q112_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome20'}]"
} |