0
dict | 1
float64 0
0
| 2
dict |
|---|---|---|
{
"aliases": null,
"definition": null,
"id": "7q1_Human_",
"label": "7q1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q1",
"relationships": [
{
"predicate": "PartOf",
"target": "7q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q1 (Human) None [{'predicate': 'PartOf', 'target': '7q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q31MicrodeletionSyndrome",
"label": "7q31 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016656",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "7q31_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome7"
}
]
} | 0 | {
"document": "7q31 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '7q31_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome7'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q31_Human_",
"label": "7q31 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q31",
"relationships": [
{
"predicate": "PartOf",
"target": "7q3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q31 (Human) None [{'predicate': 'PartOf', 'target': '7q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q36_Human_",
"label": "7q36 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q36",
"relationships": [
{
"predicate": "PartOf",
"target": "7q3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q36 (Human) None [{'predicate': 'PartOf', 'target': '7q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q3_Human_",
"label": "7q3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q3",
"relationships": [
{
"predicate": "PartOf",
"target": "7q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q3 (Human) None [{'predicate': 'PartOf', 'target': '7q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "7q_Human_",
"label": "7q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr7q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome7_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "7q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome7_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 8 and under 9 years old.",
"id": "8YearOldHumanStage",
"label": "8-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000102",
"relationships": [
{
"predicate": "PartOf",
"target": "612YearOldChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "7YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "8-year-old human stage Child stage that refers to a child who is over 8 and under 9 years old. [{'predicate': 'PartOf', 'target': '612YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '7YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.",
"id": "8p112DeletionSyndrome",
"label": "8p11.2 deletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016657",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "8p112_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome8"
}
]
} | 0 | {
"document": "8p11.2 deletion syndrome 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. [{'predicate': 'DiseaseArisesFromStructure', 'target': '8p112_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome8'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8p112_Human_",
"label": "8p11.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8p11.2",
"relationships": [
{
"predicate": "PartOf",
"target": "8p11_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8p11.2 (Human) None [{'predicate': 'PartOf', 'target': '8p11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8p11_Human_",
"label": "8p11 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8p11",
"relationships": [
{
"predicate": "PartOf",
"target": "8p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8p11 (Human) None [{'predicate': 'PartOf', 'target': '8p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8p1_Human_",
"label": "8p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8p1",
"relationships": [
{
"predicate": "PartOf",
"target": "8p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8p1 (Human) None [{'predicate': 'PartOf', 'target': '8p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).",
"id": "8p231DuplicationSyndrome",
"label": "8p23.1 duplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0016659",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "8p231_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheShortArmOfChromosome8"
}
]
} | 0 | {
"document": "8p23.1 duplication syndrome 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). [{'predicate': 'DiseaseArisesFromStructure', 'target': '8p231_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosome8'}]"
} |
{
"aliases": null,
"definition": "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.",
"id": "8p231MicrodeletionSyndrome",
"label": "8p23.1 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0016658",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "8p231_Human_"
},
{
"predicate": "subClassOf",
"target": "SyndromicUrogenitalTractMalformation"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome8"
}
]
} | 0 | {
"document": "8p23.1 microdeletion syndrome 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. [{'predicate': 'DiseaseArisesFromStructure', 'target': '8p231_Human_'}, {'predicate': 'subClassOf', 'target': 'SyndromicUrogenitalTractMalformation'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome8'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8p231_Human_",
"label": "8p23.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8p23.1",
"relationships": [
{
"predicate": "PartOf",
"target": "8p23_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8p23.1 (Human) None [{'predicate': 'PartOf', 'target': '8p23_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8p23_Human_",
"label": "8p23 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8p23",
"relationships": [
{
"predicate": "PartOf",
"target": "8p2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8p23 (Human) None [{'predicate': 'PartOf', 'target': '8p2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8p2_Human_",
"label": "8p2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8p2",
"relationships": [
{
"predicate": "PartOf",
"target": "8p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8p2 (Human) None [{'predicate': 'PartOf', 'target': '8p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.",
"id": "8pInvertedDuplicationDeletionSyndrome",
"label": "8p inverted duplication/deletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0019876",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "8p_Human_"
},
{
"predicate": "subClassOf",
"target": "Chromosome8Disorder"
}
]
} | 0 | {
"document": "8p inverted duplication/deletion syndrome 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. [{'predicate': 'DiseaseArisesFromStructure', 'target': '8p_Human_'}, {'predicate': 'subClassOf', 'target': 'Chromosome8Disorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8p_Human_",
"label": "8p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome8_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome8_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q121Q212_Human_",
"label": "8q12.1-q21.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q12.1-q21.2",
"relationships": [
{
"predicate": "PartOf",
"target": "8q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q12.1-q21.2 (Human) None [{'predicate': 'PartOf', 'target': '8q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.",
"id": "8q12MicroduplicationSyndrome",
"label": "8q12 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0016458",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "8q12_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheLongArmOfChromosome8"
}
]
} | 0 | {
"document": "8q12 microduplication syndrome The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. [{'predicate': 'DiseaseArisesFromStructure', 'target': '8q12_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome8'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q12_Human_",
"label": "8q12 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q12",
"relationships": [
{
"predicate": "PartOf",
"target": "8q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q12 (Human) None [{'predicate': 'PartOf', 'target': '8q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q1_Human_",
"label": "8q1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q1",
"relationships": [
{
"predicate": "PartOf",
"target": "8q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q1 (Human) None [{'predicate': 'PartOf', 'target': '8q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q2111_Human_",
"label": "8q21.11 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q21.11",
"relationships": [
{
"predicate": "PartOf",
"target": "8q211_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q21.11 (Human) None [{'predicate': 'PartOf', 'target': '8q211_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q211_Human_",
"label": "8q21.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q21.1",
"relationships": [
{
"predicate": "PartOf",
"target": "8q21_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q21.1 (Human) None [{'predicate': 'PartOf', 'target': '8q21_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q21_Human_",
"label": "8q21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q21",
"relationships": [
{
"predicate": "PartOf",
"target": "8q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q21 (Human) None [{'predicate': 'PartOf', 'target': '8q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.",
"id": "8q221MicrodeletionSyndrome",
"label": "8q22.1 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0011977",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "8q221_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeWithoutIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome8"
}
]
} | 0 | {
"document": "8q22.1 microdeletion syndrome The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. [{'predicate': 'DiseaseArisesFromStructure', 'target': '8q221_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeWithoutIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome8'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q221_Human_",
"label": "8q22.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q22.1",
"relationships": [
{
"predicate": "PartOf",
"target": "8q22_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q22.1 (Human) None [{'predicate': 'PartOf', 'target': '8q22_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q22_Human_",
"label": "8q22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q22",
"relationships": [
{
"predicate": "PartOf",
"target": "8q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q22 (Human) None [{'predicate': 'PartOf', 'target': '8q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q243MicrodeletionSyndrome",
"label": "8q24.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0014263",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "PUF60"
},
{
"predicate": "DiseaseArisesFromStructure",
"target": "8q243_Human_"
},
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
},
{
"predicate": "subClassOf",
"target": "HeartDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome8"
}
]
} | 0 | {
"document": "8q24.3 microdeletion syndrome None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'PUF60'}, {'predicate': 'DiseaseArisesFromStructure', 'target': '8q243_Human_'}, {'predicate': 'subClassOf', 'target': 'HereditaryDisease'}, {'predicate': 'subClassOf', 'target': 'HeartDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome8'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q243_Human_",
"label": "8q24.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q24.3",
"relationships": [
{
"predicate": "PartOf",
"target": "8q24_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q24.3 (Human) None [{'predicate': 'PartOf', 'target': '8q24_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q24_Human_",
"label": "8q24 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q24",
"relationships": [
{
"predicate": "PartOf",
"target": "8q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q24 (Human) None [{'predicate': 'PartOf', 'target': '8q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q2_Human_",
"label": "8q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q2",
"relationships": [
{
"predicate": "PartOf",
"target": "8q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q2 (Human) None [{'predicate': 'PartOf', 'target': '8q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "8q_Human_",
"label": "8q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr8q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome8_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "8q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome8_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 9 and under 10 years old.",
"id": "9YearOldHumanStage",
"label": "9-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000103",
"relationships": [
{
"predicate": "PartOf",
"target": "612YearOldChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "8YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "9-year-old human stage Child stage that refers to a child who is over 9 and under 10 years old. [{'predicate': 'PartOf', 'target': '612YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '8YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).",
"id": "9p13MicrodeletionSyndrome",
"label": "9p13 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0017928",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "9p13_Human_"
},
{
"predicate": "subClassOf",
"target": "SyndromicIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "Chromosome9pDeletionSyndrome"
}
]
} | 0 | {
"document": "9p13 microdeletion syndrome 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). [{'predicate': 'DiseaseArisesFromStructure', 'target': '9p13_Human_'}, {'predicate': 'subClassOf', 'target': 'SyndromicIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'Chromosome9pDeletionSyndrome'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9p13_Human_",
"label": "9p13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9p13",
"relationships": [
{
"predicate": "PartOf",
"target": "9p1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9p13 (Human) None [{'predicate': 'PartOf', 'target': '9p1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9p1_Human_",
"label": "9p1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9p1",
"relationships": [
{
"predicate": "PartOf",
"target": "9p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9p1 (Human) None [{'predicate': 'PartOf', 'target': '9p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9p_Human_",
"label": "9p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome9_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome9_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.",
"id": "9q2113MicrodeletionSyndrome",
"label": "9q21.13 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0035173",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "9q2113_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfChromosome9"
}
]
} | 0 | {
"document": "9q21.13 microdeletion syndrome A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. [{'predicate': 'DiseaseArisesFromStructure', 'target': '9q2113_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfChromosome9'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q2113_Human_",
"label": "9q21.13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q21.13",
"relationships": [
{
"predicate": "PartOf",
"target": "9q211_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q21.13 (Human) None [{'predicate': 'PartOf', 'target': '9q211_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q211_Human_",
"label": "9q21.1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q21.1",
"relationships": [
{
"predicate": "PartOf",
"target": "9q21_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q21.1 (Human) None [{'predicate': 'PartOf', 'target': '9q21_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q21_Human_",
"label": "9q21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q21",
"relationships": [
{
"predicate": "PartOf",
"target": "9q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q21 (Human) None [{'predicate': 'PartOf', 'target': '9q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q223_Human_",
"label": "9q22.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q22.3",
"relationships": [
{
"predicate": "PartOf",
"target": "9q22_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q22.3 (Human) None [{'predicate': 'PartOf', 'target': '9q22_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q22_Human_",
"label": "9q22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q22",
"relationships": [
{
"predicate": "PartOf",
"target": "9q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q22 (Human) None [{'predicate': 'PartOf', 'target': '9q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q2_Human_",
"label": "9q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q2",
"relationships": [
{
"predicate": "PartOf",
"target": "9q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q2 (Human) None [{'predicate': 'PartOf', 'target': '9q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q311Q313_Human_",
"label": "9q31.1-q31.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q31.1-q31.3",
"relationships": [
{
"predicate": "PartOf",
"target": "9q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q31.1-q31.3 (Human) None [{'predicate': 'PartOf', 'target': '9q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q311q313MicrodeletionSyndrome",
"label": "9q31.1q31.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0018428",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "9q311Q313_Human_"
},
{
"predicate": "subClassOf",
"target": "SyndromicIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialMonosomyOfTheLongArmOfChromosome9"
}
]
} | 0 | {
"document": "9q31.1q31.3 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '9q311Q313_Human_'}, {'predicate': 'subClassOf', 'target': 'SyndromicIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialMonosomyOfTheLongArmOfChromosome9'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q333Q3411_Human_",
"label": "9q33.3-q34.11 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q33.3-q34.11",
"relationships": [
{
"predicate": "PartOf",
"target": "9q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q33.3-q34.11 (Human) None [{'predicate': 'PartOf', 'target': '9q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q333q3411MicrodeletionSyndrome",
"label": "9q33.3q34.11 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0044641",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "9q333Q3411_Human_"
},
{
"predicate": "subClassOf",
"target": "SyndromicIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "EyeDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialMonosomyOfTheLongArmOfChromosome9"
},
{
"predicate": "subClassOf",
"target": "PatellarDysostosis"
}
]
} | 0 | {
"document": "9q33.3q34.11 microdeletion syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': '9q333Q3411_Human_'}, {'predicate': 'subClassOf', 'target': 'SyndromicIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'EyeDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialMonosomyOfTheLongArmOfChromosome9'}, {'predicate': 'subClassOf', 'target': 'PatellarDysostosis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q34_Human_",
"label": "9q34 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q34",
"relationships": [
{
"predicate": "PartOf",
"target": "9q3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q34 (Human) None [{'predicate': 'PartOf', 'target': '9q3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q3_Human_",
"label": "9q3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q3",
"relationships": [
{
"predicate": "PartOf",
"target": "9q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q3 (Human) None [{'predicate': 'PartOf', 'target': '9q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "9q_Human_",
"label": "9q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr9q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome9_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "9q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome9_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.",
"id": "A20Haploinsufficiency",
"label": "A20 haploinsufficiency",
"logical_definition": null,
"original_id": "MONDO:0100222",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "TNFAIP3"
},
{
"predicate": "subClassOf",
"target": "InbornErrorOfImmunity"
}
]
} | 0 | {
"document": "A20 haploinsufficiency Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'TNFAIP3'}, {'predicate': 'subClassOf', 'target': 'InbornErrorOfImmunity'}]"
} |
{
"aliases": null,
"definition": null,
"id": "A2M",
"label": "A2M",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/7>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "A2M None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.",
"id": "A53DiffuseLargeBCellLymphoma",
"label": "A53 diffuse large B-cell lymphoma",
"logical_definition": null,
"original_id": "MONDO:0850473",
"relationships": [
{
"predicate": "subClassOf",
"target": "DiffuseLargeBCellLymphoma"
}
]
} | 0 | {
"document": "A53 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. [{'predicate': 'subClassOf', 'target': 'DiffuseLargeBCellLymphoma'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AAAS",
"label": "AAAS",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/13666>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "AAAS None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": "Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.",
"id": "AAAmyloidosis",
"label": "AA amyloidosis",
"logical_definition": null,
"original_id": "MONDO:0019439",
"relationships": [
{
"predicate": "subClassOf",
"target": "AcquiredMetabolicDisease"
},
{
"predicate": "subClassOf",
"target": "AcquiredAmyloidPeripheralNeuropathy"
},
{
"predicate": "subClassOf",
"target": "NonFamilialRestrictiveCardiomyopathy"
},
{
"predicate": "subClassOf",
"target": "Amyloidosis"
}
]
} | 0 | {
"document": "AA amyloidosis Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. [{'predicate': 'subClassOf', 'target': 'AcquiredMetabolicDisease'}, {'predicate': 'subClassOf', 'target': 'AcquiredAmyloidPeripheralNeuropathy'}, {'predicate': 'subClassOf', 'target': 'NonFamilialRestrictiveCardiomyopathy'}, {'predicate': 'subClassOf', 'target': 'Amyloidosis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AAGAB",
"label": "AAGAB",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/25662>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "AAGAB None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AANAT",
"label": "AANAT",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/19>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "AANAT None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AARS1",
"label": "AARS1",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/20>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "AARS1 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AARS2",
"label": "AARS2",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/21022>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "AARS2 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AASS",
"label": "AASS",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/17366>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "AASS None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AApoAIAmyloidosis",
"label": "AApoAI amyloidosis",
"logical_definition": null,
"original_id": "MONDO:0019731",
"relationships": [
{
"predicate": "subClassOf",
"target": "FamilialVisceralAmyloidosis"
}
]
} | 0 | {
"document": "AApoAI amyloidosis None [{'predicate': 'subClassOf', 'target': 'FamilialVisceralAmyloidosis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AApoAIVAmyloidosis",
"label": "AApoAIV amyloidosis",
"logical_definition": null,
"original_id": "MONDO:0018589",
"relationships": [
{
"predicate": "subClassOf",
"target": "Amyloidosis"
}
]
} | 0 | {
"document": "AApoAIV amyloidosis None [{'predicate': 'subClassOf', 'target': 'Amyloidosis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABAT",
"label": "ABAT",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/23>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABAT None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCA1",
"label": "ABCA1",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/29>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCA1 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCA12",
"label": "ABCA12",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/14637>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCA12 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCA3",
"label": "ABCA3",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/33>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCA3 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCA4",
"label": "ABCA4",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/34>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCA4 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": "An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.",
"id": "ABCA4RelatedRetinopathy",
"label": "ABCA4-related retinopathy",
"logical_definition": null,
"original_id": "MONDO:0800406",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ABCA4"
},
{
"predicate": "subClassOf",
"target": "InheritedRetinalDystrophy"
}
]
} | 0 | {
"document": "ABCA4-related retinopathy An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ABCA4'}, {'predicate': 'subClassOf', 'target': 'InheritedRetinalDystrophy'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCA7",
"label": "ABCA7",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/37>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCA7 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCB1",
"label": "ABCB1",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/40>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCB1 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCB11",
"label": "ABCB11",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/42>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCB11 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCB4",
"label": "ABCB4",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/45>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCB4 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCB6",
"label": "ABCB6",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/47>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCB6 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCB7",
"label": "ABCB7",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/48>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCB7 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCC2",
"label": "ABCC2",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/53>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCC2 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCC6",
"label": "ABCC6",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/57>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCC6 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCC8",
"label": "ABCC8",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/59>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCC8 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCC9",
"label": "ABCC9",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/60>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCC9 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCD1",
"label": "ABCD1",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/61>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCD1 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCD3",
"label": "ABCD3",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/67>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCD3 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCD4",
"label": "ABCD4",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/68>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCD4 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).",
"id": "ABCDSyndrome",
"label": "ABCD syndrome",
"logical_definition": null,
"original_id": "MONDO:0010895",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "EDNRB"
},
{
"predicate": "DiseaseHasFeature",
"target": "SensorineuralHearingImpairment"
},
{
"predicate": "DiseaseHasFeature",
"target": "Albinism"
},
{
"predicate": "subClassOf",
"target": "AutosomalRecessiveDisease"
}
]
} | 0 | {
"document": "ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'EDNRB'}, {'predicate': 'DiseaseHasFeature', 'target': 'SensorineuralHearingImpairment'}, {'predicate': 'DiseaseHasFeature', 'target': 'Albinism'}, {'predicate': 'subClassOf', 'target': 'AutosomalRecessiveDisease'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCG5",
"label": "ABCG5",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/13886>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCG5 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABCG8",
"label": "ABCG8",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/13887>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABCG8 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABHD12",
"label": "ABHD12",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/15868>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABHD12 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABHD5",
"label": "ABHD5",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/21396>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ABHD5 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ABeta2MAmyloidosis",
"label": "ABeta2M amyloidosis",
"logical_definition": null,
"original_id": "MONDO:0018590",
"relationships": [
{
"predicate": "subClassOf",
"target": "Amyloidosis"
}
]
} | 0 | {
"document": "ABeta2M amyloidosis None [{'predicate': 'subClassOf', 'target': 'Amyloidosis'}]"
} |
{
"aliases": null,
"definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.",
"id": "ABetaA21GAmyloidosis",
"label": "ABetaA21G amyloidosis",
"logical_definition": null,
"original_id": "MONDO:0017948",
"relationships": [
{
"predicate": "subClassOf",
"target": "CerebralAmyloidAngiopathy_APPRelated"
}
]
} | 0 | {
"document": "ABetaA21G amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients. [{'predicate': 'subClassOf', 'target': 'CerebralAmyloidAngiopathy_APPRelated'}]"
} |
{
"aliases": null,
"definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.",
"id": "ABetaAmyloidosis_ArcticType",
"label": "ABeta amyloidosis, Arctic type",
"logical_definition": null,
"original_id": "MONDO:0017949",
"relationships": [
{
"predicate": "subClassOf",
"target": "CerebralAmyloidAngiopathy_APPRelated"
}
]
} | 0 | {
"document": "ABeta amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages. [{'predicate': 'subClassOf', 'target': 'CerebralAmyloidAngiopathy_APPRelated'}]"
} |
{
"aliases": null,
"definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.",
"id": "ABetaAmyloidosis_IowaType",
"label": "ABeta amyloidosis, Iowa type",
"logical_definition": null,
"original_id": "MONDO:0017946",
"relationships": [
{
"predicate": "subClassOf",
"target": "CerebralAmyloidAngiopathy_APPRelated"
}
]
} | 0 | {
"document": "ABeta amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages. [{'predicate': 'subClassOf', 'target': 'CerebralAmyloidAngiopathy_APPRelated'}]"
} |
{
"aliases": null,
"definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.",
"id": "ABetaAmyloidosis_ItalianType",
"label": "ABeta amyloidosis, Italian type",
"logical_definition": null,
"original_id": "MONDO:0017947",
"relationships": [
{
"predicate": "subClassOf",
"target": "CerebralAmyloidAngiopathy_APPRelated"
}
]
} | 0 | {
"document": "ABeta amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. [{'predicate': 'subClassOf', 'target': 'CerebralAmyloidAngiopathy_APPRelated'}]"
} |
{
"aliases": null,
"definition": "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.",
"id": "ABetaAmyloidosis_dutchType",
"label": "ABeta amyloidosis, dutch type",
"logical_definition": null,
"original_id": "MONDO:0015033",
"relationships": [
{
"predicate": "subClassOf",
"target": "CerebralAmyloidAngiopathy_APPRelated"
}
]
} | 0 | {
"document": "ABeta amyloidosis, dutch type Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. [{'predicate': 'subClassOf', 'target': 'CerebralAmyloidAngiopathy_APPRelated'}]"
} |
{
"aliases": null,
"definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.",
"id": "ABetaL34VAmyloidosis",
"label": "ABetaL34V amyloidosis",
"logical_definition": null,
"original_id": "MONDO:0017945",
"relationships": [
{
"predicate": "subClassOf",
"target": "CerebralAmyloidAngiopathy_APPRelated"
}
]
} | 0 | {
"document": "ABetaL34V amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. [{'predicate': 'subClassOf', 'target': 'CerebralAmyloidAngiopathy_APPRelated'}]"
} |
{
"aliases": null,
"definition": "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.",
"id": "ABriAmyloidosis",
"label": "ABri amyloidosis",
"logical_definition": null,
"original_id": "MONDO:0008306",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ITM2B"
},
{
"predicate": "subClassOf",
"target": "CerebralAmyloidAngiopathy"
},
{
"predicate": "subClassOf",
"target": "ITM2BAmyloidosis"
}
]
} | 0 | {
"document": "ABri amyloidosis A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ITM2B'}, {'predicate': 'subClassOf', 'target': 'CerebralAmyloidAngiopathy'}, {'predicate': 'subClassOf', 'target': 'ITM2BAmyloidosis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ACACA",
"label": "ACACA",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/84>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ACACA None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ACAD8",
"label": "ACAD8",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/87>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ACAD8 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ACAD9",
"label": "ACAD9",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/21497>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ACAD9 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "ACADM",
"label": "ACADM",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/89>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "ACADM None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |