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{
"aliases": null,
"definition": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.",
"id": "3HydroxyisobutyrylCoAHydrolaseDeficiency",
"label": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
"logical_definition": null,
"original_id": "MONDO:0009603",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "HIBCH"
},
{
"predicate": "subClassOf",
"target": "ClassicOrganicAciduria"
},
{
"predicate": "subClassOf",
"target": "InbornDisorderOfBranchedChainAminoAcidMetabolism"
},
{
"predicate": "subClassOf",
"target": "ValineMetabolismDisease"
}
]
} | 0 | {
"document": "3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HIBCH'}, {'predicate': 'subClassOf', 'target': 'ClassicOrganicAciduria'}, {'predicate': 'subClassOf', 'target': 'InbornDisorderOfBranchedChainAminoAcidMetabolism'}, {'predicate': 'subClassOf', 'target': 'ValineMetabolismDisease'}]"
} |
{
"aliases": null,
"definition": "3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.",
"id": "3MCSyndrome",
"label": "3MC syndrome",
"logical_definition": null,
"original_id": "MONDO:0017398",
"relationships": [
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
}
]
} | 0 | {
"document": "3MC syndrome 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti. [{'predicate': 'subClassOf', 'target': 'HereditaryDisease'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.",
"id": "3MCSyndrome1",
"label": "3MC syndrome 1",
"logical_definition": null,
"original_id": "MONDO:0009770",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MASP1"
},
{
"predicate": "subClassOf",
"target": "3MCSyndrome"
}
]
} | 0 | {
"document": "3MC syndrome 1 Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MASP1'}, {'predicate': 'subClassOf', 'target': '3MCSyndrome'}]"
} |
{
"aliases": null,
"definition": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.",
"id": "3MCSyndrome2",
"label": "3MC syndrome 2",
"logical_definition": null,
"original_id": "MONDO:0009927",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "COLEC11"
},
{
"predicate": "subClassOf",
"target": "3MCSyndrome"
}
]
} | 0 | {
"document": "3MC syndrome 2 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'COLEC11'}, {'predicate': 'subClassOf', 'target': '3MCSyndrome'}]"
} |
{
"aliases": null,
"definition": "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.",
"id": "3MCSyndrome3",
"label": "3MC syndrome 3",
"logical_definition": null,
"original_id": "MONDO:0009554",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "COLEC10"
},
{
"predicate": "subClassOf",
"target": "3MCSyndrome"
}
]
} | 0 | {
"document": "3MC syndrome 3 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'COLEC10'}, {'predicate': 'subClassOf', 'target': '3MCSyndrome'}]"
} |
{
"aliases": null,
"definition": "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.",
"id": "3MSyndrome",
"label": "3-M syndrome",
"logical_definition": null,
"original_id": "MONDO:0007477",
"relationships": [
{
"predicate": "subClassOf",
"target": "AutosomalRecessiveDisease"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeWithoutIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "SlenderBoneDysplasia"
}
]
} | 0 | {
"document": "3-M syndrome 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. [{'predicate': 'subClassOf', 'target': 'AutosomalRecessiveDisease'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeWithoutIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'SlenderBoneDysplasia'}]"
} |
{
"aliases": null,
"definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.",
"id": "3MSyndrome1",
"label": "3M syndrome 1",
"logical_definition": null,
"original_id": "MONDO:0010117",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CUL7"
},
{
"predicate": "subClassOf",
"target": "3MSyndrome"
},
{
"predicate": "subClassOf",
"target": "PrimordialDwarfismAndSlenderBoneDisorder"
}
]
} | 0 | {
"document": "3M syndrome 1 Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CUL7'}, {'predicate': 'subClassOf', 'target': '3MSyndrome'}, {'predicate': 'subClassOf', 'target': 'PrimordialDwarfismAndSlenderBoneDisorder'}]"
} |
{
"aliases": null,
"definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.",
"id": "3MSyndrome2",
"label": "3M syndrome 2",
"logical_definition": null,
"original_id": "MONDO:0013039",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "OBSL1"
},
{
"predicate": "subClassOf",
"target": "3MSyndrome"
},
{
"predicate": "subClassOf",
"target": "PrimordialDwarfismAndSlenderBoneDisorder"
}
]
} | 0 | {
"document": "3M syndrome 2 Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'OBSL1'}, {'predicate': 'subClassOf', 'target': '3MSyndrome'}, {'predicate': 'subClassOf', 'target': 'PrimordialDwarfismAndSlenderBoneDisorder'}]"
} |
{
"aliases": null,
"definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.",
"id": "3MSyndrome3",
"label": "3M syndrome 3",
"logical_definition": null,
"original_id": "MONDO:0013627",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CCDC8"
},
{
"predicate": "subClassOf",
"target": "3MSyndrome"
},
{
"predicate": "subClassOf",
"target": "PrimordialDwarfismAndSlenderBoneDisorder"
}
]
} | 0 | {
"document": "3M syndrome 3 Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CCDC8'}, {'predicate': 'subClassOf', 'target': '3MSyndrome'}, {'predicate': 'subClassOf', 'target': 'PrimordialDwarfismAndSlenderBoneDisorder'}]"
} |
{
"aliases": null,
"definition": "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.",
"id": "3MethylcrotonylCoACarboxylase1Deficiency",
"label": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
"logical_definition": null,
"original_id": "MONDO:0008861",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MCCC1"
},
{
"predicate": "subClassOf",
"target": "UreaCycleDisorder"
},
{
"predicate": "subClassOf",
"target": "3MethylcrotonylCoACarboxylaseDeficiency"
}
]
} | 0 | {
"document": "3-methylcrotonyl-CoA carboxylase 1 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MCCC1'}, {'predicate': 'subClassOf', 'target': 'UreaCycleDisorder'}, {'predicate': 'subClassOf', 'target': '3MethylcrotonylCoACarboxylaseDeficiency'}]"
} |
{
"aliases": null,
"definition": "Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.",
"id": "3MethylcrotonylCoACarboxylase2Deficiency",
"label": "3-methylcrotonyl-CoA carboxylase 2 deficiency",
"logical_definition": null,
"original_id": "MONDO:0008862",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MCCC2"
},
{
"predicate": "subClassOf",
"target": "3MethylcrotonylCoACarboxylaseDeficiency"
}
]
} | 0 | {
"document": "3-methylcrotonyl-CoA carboxylase 2 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MCCC2'}, {'predicate': 'subClassOf', 'target': '3MethylcrotonylCoACarboxylaseDeficiency'}]"
} |
{
"aliases": null,
"definition": "3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.",
"id": "3MethylcrotonylCoACarboxylaseDeficiency",
"label": "3-methylcrotonyl-CoA carboxylase deficiency",
"logical_definition": null,
"original_id": "MONDO:0018950",
"relationships": [
{
"predicate": "DiseaseHasBasisInDisruptionOf",
"target": "MethylcrotonoylCoACarboxylaseActivity"
},
{
"predicate": "DiseaseHasFeature",
"target": "Hypotonia"
},
{
"predicate": "DiseaseHasFeature",
"target": "SkeletalMuscleAtrophy"
},
{
"predicate": "subClassOf",
"target": "ClassicOrganicAciduria"
}
]
} | 0 | {
"document": "3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. [{'predicate': 'DiseaseHasBasisInDisruptionOf', 'target': 'MethylcrotonoylCoACarboxylaseActivity'}, {'predicate': 'DiseaseHasFeature', 'target': 'Hypotonia'}, {'predicate': 'DiseaseHasFeature', 'target': 'SkeletalMuscleAtrophy'}, {'predicate': 'subClassOf', 'target': 'ClassicOrganicAciduria'}]"
} |
{
"aliases": null,
"definition": "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.",
"id": "3MethylglutaconicAciduria",
"label": "3-methylglutaconic aciduria",
"logical_definition": null,
"original_id": "MONDO:0017359",
"relationships": [
{
"predicate": "subClassOf",
"target": "ClassicOrganicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. [{'predicate': 'subClassOf', 'target': 'ClassicOrganicAciduria'}]"
} |
{
"aliases": null,
"definition": "3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.",
"id": "3MethylglutaconicAciduriaType1",
"label": "3-methylglutaconic aciduria type 1",
"logical_definition": null,
"original_id": "MONDO:0009610",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "AUH"
},
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'AUH'}, {'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.",
"id": "3MethylglutaconicAciduriaType3",
"label": "3-methylglutaconic aciduria type 3",
"logical_definition": null,
"original_id": "MONDO:0009787",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "OPA3"
},
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'OPA3'}, {'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": "3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).",
"id": "3MethylglutaconicAciduriaType4",
"label": "3-methylglutaconic aciduria type 4",
"logical_definition": null,
"original_id": "MONDO:0009611",
"relationships": [
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). [{'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.",
"id": "3MethylglutaconicAciduriaType5",
"label": "3-methylglutaconic aciduria type 5",
"logical_definition": null,
"original_id": "MONDO:0012435",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "DNAJC19"
},
{
"predicate": "DiseaseHasMajorFeature",
"target": "DilatedCardiomyopathy"
},
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria type 5 A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'DNAJC19'}, {'predicate': 'DiseaseHasMajorFeature', 'target': 'DilatedCardiomyopathy'}, {'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3MethylglutaconicAciduriaType8",
"label": "3-methylglutaconic aciduria type 8",
"logical_definition": null,
"original_id": "MONDO:0044723",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "HTRA2"
},
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria type 8 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HTRA2'}, {'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3MethylglutaconicAciduriaType9",
"label": "3-methylglutaconic aciduria type 9",
"logical_definition": null,
"original_id": "MONDO:0044724",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria type 9 None [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.",
"id": "3MethylglutaconicAciduriaWithDeafness_encephalopathy_andLeighLikeSyndrome",
"label": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
"logical_definition": null,
"original_id": "MONDO:0013875",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "SERAC1"
},
{
"predicate": "subClassOf",
"target": "InbornMitochondrialMetabolismDisorder"
},
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
},
{
"predicate": "subClassOf",
"target": "DisorderOfPhospholipids_sphingolipidsAndFattyAcidsBiosynthesis"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'SERAC1'}, {'predicate': 'subClassOf', 'target': 'InbornMitochondrialMetabolismDisorder'}, {'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}, {'predicate': 'subClassOf', 'target': 'DisorderOfPhospholipids_sphingolipidsAndFattyAcidsBiosynthesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3MethylglutaconicAciduria_typeVIIA",
"label": "3-methylglutaconic aciduria, type VIIA",
"logical_definition": null,
"original_id": "MONDO:0859237",
"relationships": [
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria, type VIIA None [{'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3MethylglutaconicAciduria_typeVIIB",
"label": "3-methylglutaconic aciduria, type VIIB",
"logical_definition": null,
"original_id": "MONDO:0014561",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CLPB"
},
{
"predicate": "DiseaseHasFeature",
"target": "MetabolicDisease"
},
{
"predicate": "subClassOf",
"target": "3MethylglutaconicAciduria"
}
]
} | 0 | {
"document": "3-methylglutaconic aciduria, type VIIB None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CLPB'}, {'predicate': 'DiseaseHasFeature', 'target': 'MetabolicDisease'}, {'predicate': 'subClassOf', 'target': '3MethylglutaconicAciduria'}]"
} |
{
"aliases": null,
"definition": "A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position.",
"id": "3OxoDelta4_steroid",
"label": "3-oxo-Delta(4) steroid",
"logical_definition": null,
"original_id": "CHEBI:47909",
"relationships": [
{
"predicate": "HasPart",
"target": "3OxoDelta4_steroidGroup"
},
{
"predicate": "subClassOf",
"target": "3OxoSteroid"
},
{
"predicate": "subClassOf",
"target": "Enone"
}
]
} | 0 | {
"document": "3-oxo-Delta(4) steroid A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position. [{'predicate': 'HasPart', 'target': '3OxoDelta4_steroidGroup'}, {'predicate': 'subClassOf', 'target': '3OxoSteroid'}, {'predicate': 'subClassOf', 'target': 'Enone'}]"
} |
{
"aliases": null,
"definition": "An organic group derived from any 3-oxo-Delta(4)-steroid.",
"id": "3OxoDelta4_steroidGroup",
"label": "3-oxo-Delta(4)-steroid group",
"logical_definition": null,
"original_id": "CHEBI:136849",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrganicGroup"
}
]
} | 0 | {
"document": "3-oxo-Delta(4)-steroid group An organic group derived from any 3-oxo-Delta(4)-steroid. [{'predicate': 'subClassOf', 'target': 'OrganicGroup'}]"
} |
{
"aliases": null,
"definition": "Any oxo steroid where an oxo substituent is located at position 3.",
"id": "3OxoSteroid",
"label": "3-oxo steroid",
"logical_definition": null,
"original_id": "CHEBI:47788",
"relationships": [
{
"predicate": "subClassOf",
"target": "OxoSteroid"
},
{
"predicate": "subClassOf",
"target": "CyclicKetone"
}
]
} | 0 | {
"document": "3-oxo steroid Any oxo steroid where an oxo substituent is located at position 3. [{'predicate': 'subClassOf', 'target': 'OxoSteroid'}, {'predicate': 'subClassOf', 'target': 'CyclicKetone'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3PhosphoglycerateDehydrogenaseDeficiency",
"label": "3-phosphoglycerate dehydrogenase deficiency",
"logical_definition": null,
"original_id": "MONDO:0018491",
"relationships": [
{
"predicate": "subClassOf",
"target": "NeurometabolicDisorderDueToSerineDeficiency"
}
]
} | 0 | {
"document": "3-phosphoglycerate dehydrogenase deficiency None [{'predicate': 'subClassOf', 'target': 'NeurometabolicDisorderDueToSerineDeficiency'}]"
} |
{
"aliases": null,
"definition": "Child stage that refers to a child who is over 3 and under 4 years old.",
"id": "3YearOldHumanStage",
"label": "3-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000097",
"relationships": [
{
"predicate": "PartOf",
"target": "25YearOldChildStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "2YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "3-year-old human stage Child stage that refers to a child who is over 3 and under 4 years old. [{'predicate': 'PartOf', 'target': '25YearOldChildStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '2YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.",
"id": "3p253MicrodeletionSyndrome",
"label": "3p25.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0018564",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "3p253_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome3"
}
]
} | 0 | {
"document": "3p25.3 microdeletion syndrome A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. [{'predicate': 'DiseaseArisesFromStructure', 'target': '3p253_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome3'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3p253_Human_",
"label": "3p25.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3p25.3",
"relationships": [
{
"predicate": "PartOf",
"target": "3p25_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3p25.3 (Human) None [{'predicate': 'PartOf', 'target': '3p25_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3p25_Human_",
"label": "3p25 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3p25",
"relationships": [
{
"predicate": "PartOf",
"target": "3p2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3p25 (Human) None [{'predicate': 'PartOf', 'target': '3p2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3p2_Human_",
"label": "3p2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3p2",
"relationships": [
{
"predicate": "PartOf",
"target": "3p_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3p2 (Human) None [{'predicate': 'PartOf', 'target': '3p_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3p_Human_",
"label": "3p (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3p",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3p (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.",
"id": "3p_syndrome",
"label": "3p- syndrome",
"logical_definition": null,
"original_id": "MONDO:0013424",
"relationships": [
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheShortArmOfChromosome3"
},
{
"predicate": "subClassOf",
"target": "Blepharophimosis_IntellectualDisabilitySyndrome"
}
]
} | 0 | {
"document": "3p- syndrome Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. [{'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheShortArmOfChromosome3'}, {'predicate': 'subClassOf', 'target': 'Blepharophimosis_IntellectualDisabilitySyndrome'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q1331_Human_",
"label": "3q13.31 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q13.31",
"relationships": [
{
"predicate": "PartOf",
"target": "3q133_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q13.31 (Human) None [{'predicate': 'PartOf', 'target': '3q133_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q133_Human_",
"label": "3q13.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q13.3",
"relationships": [
{
"predicate": "PartOf",
"target": "3q13_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q13.3 (Human) None [{'predicate': 'PartOf', 'target': '3q13_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q13_Human_",
"label": "3q13 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q13",
"relationships": [
{
"predicate": "PartOf",
"target": "3q1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q13 (Human) None [{'predicate': 'PartOf', 'target': '3q1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q1_Human_",
"label": "3q1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q1",
"relationships": [
{
"predicate": "PartOf",
"target": "3q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q1 (Human) None [{'predicate': 'PartOf', 'target': '3q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q23_Human_",
"label": "3q23 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q23",
"relationships": [
{
"predicate": "PartOf",
"target": "3q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q23 (Human) None [{'predicate': 'PartOf', 'target': '3q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.",
"id": "3q26MicroduplicationSyndrome",
"label": "3q26 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0019878",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "3q26_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheLongArmOfChromosome3"
}
]
} | 0 | {
"document": "3q26 microduplication syndrome 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. [{'predicate': 'DiseaseArisesFromStructure', 'target': '3q26_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosome3'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q26_Human_",
"label": "3q26 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q26",
"relationships": [
{
"predicate": "PartOf",
"target": "3q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q26 (Human) None [{'predicate': 'PartOf', 'target': '3q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q26q27MicrodeletionSyndrome",
"label": "3q26q27 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0018156",
"relationships": [
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosome3"
}
]
} | 0 | {
"document": "3q26q27 microdeletion syndrome None [{'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosome3'}]"
} |
{
"aliases": null,
"definition": "A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.",
"id": "3q273MicrodeletionSyndrome",
"label": "3q27.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0018341",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "3q273_Human_"
},
{
"predicate": "subClassOf",
"target": "SyndromicIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "SyndromeCausedByPartialChromosomalDeletion"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
}
]
} | 0 | {
"document": "3q27.3 microdeletion syndrome A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. [{'predicate': 'DiseaseArisesFromStructure', 'target': '3q273_Human_'}, {'predicate': 'subClassOf', 'target': 'SyndromicIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'SyndromeCausedByPartialChromosomalDeletion'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q273_Human_",
"label": "3q27.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q27.3",
"relationships": [
{
"predicate": "PartOf",
"target": "3q27_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q27.3 (Human) None [{'predicate': 'PartOf', 'target': '3q27_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q27_Human_",
"label": "3q27 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q27",
"relationships": [
{
"predicate": "PartOf",
"target": "3q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q27 (Human) None [{'predicate': 'PartOf', 'target': '3q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q29_Human_",
"label": "3q29 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q29",
"relationships": [
{
"predicate": "PartOf",
"target": "3q2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q29 (Human) None [{'predicate': 'PartOf', 'target': '3q2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q2_Human_",
"label": "3q2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q2",
"relationships": [
{
"predicate": "PartOf",
"target": "3q_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q2 (Human) None [{'predicate': 'PartOf', 'target': '3q_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3q_Human_",
"label": "3q (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chr3q",
"relationships": [
{
"predicate": "PartOf",
"target": "Chromosome3_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "3q (Human) None [{'predicate': 'PartOf', 'target': 'Chromosome3_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3rdArchEctoderm",
"label": "3rd arch ectoderm",
"logical_definition": null,
"original_id": "UBERON:0005661",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch3"
},
{
"predicate": "subClassOf",
"target": "Ectoderm"
}
]
} | 0 | {
"document": "3rd arch ectoderm None [{'predicate': 'PartOf', 'target': 'PharyngealArch3'}, {'predicate': 'subClassOf', 'target': 'Ectoderm'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3rdArchEndoderm",
"label": "3rd arch endoderm",
"logical_definition": null,
"original_id": "UBERON:0005665",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch3"
},
{
"predicate": "subClassOf",
"target": "Endoderm"
}
]
} | 0 | {
"document": "3rd arch endoderm None [{'predicate': 'PartOf', 'target': 'PharyngealArch3'}, {'predicate': 'subClassOf', 'target': 'Endoderm'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3rdArchMesenchyme",
"label": "3rd arch mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0005690",
"relationships": [
{
"predicate": "PartOf",
"target": "PharyngealArch3"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymalRegion"
}
]
} | 0 | {
"document": "3rd arch mesenchyme None [{'predicate': 'PartOf', 'target': 'PharyngealArch3'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3rdArchMesenchymeFromHeadMesenchyme",
"label": "3rd arch mesenchyme from head mesenchyme",
"logical_definition": null,
"original_id": "UBERON:0010344",
"relationships": [
{
"predicate": "PartOf",
"target": "3rdArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "3rdArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "HeadMesenchymeFromMesoderm"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromHeadMesenchyme"
}
]
} | 0 | {
"document": "3rd arch mesenchyme from head mesenchyme None [{'predicate': 'PartOf', 'target': '3rdArchMesenchyme'}, {'predicate': 'subClassOf', 'target': '3rdArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'HeadMesenchymeFromMesoderm'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromHeadMesenchyme'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3rdArchMesenchymeFromNeuralCrest",
"label": "3rd arch mesenchyme from neural crest",
"logical_definition": null,
"original_id": "UBERON:0010255",
"relationships": [
{
"predicate": "PartOf",
"target": "3rdArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "3rdArchMesenchyme"
},
{
"predicate": "subClassOf",
"target": "MesenchymeFromRhombencephalicNeuralCrest"
},
{
"predicate": "subClassOf",
"target": "PharyngealArchMesenchymeFromNeuralCrest"
}
]
} | 0 | {
"document": "3rd arch mesenchyme from neural crest None [{'predicate': 'PartOf', 'target': '3rdArchMesenchyme'}, {'predicate': 'subClassOf', 'target': '3rdArchMesenchyme'}, {'predicate': 'subClassOf', 'target': 'MesenchymeFromRhombencephalicNeuralCrest'}, {'predicate': 'subClassOf', 'target': 'PharyngealArchMesenchymeFromNeuralCrest'}]"
} |
{
"aliases": null,
"definition": null,
"id": "3rdArchPharyngealCleft",
"label": "3rd arch pharyngeal cleft",
"logical_definition": null,
"original_id": "UBERON:0005874",
"relationships": [
{
"predicate": "Overlaps",
"target": "PharyngealArch3"
},
{
"predicate": "Overlaps",
"target": "PharyngealArch4"
},
{
"predicate": "subClassOf",
"target": "PharyngealCleft"
}
]
} | 0 | {
"document": "3rd arch pharyngeal cleft None [{'predicate': 'Overlaps', 'target': 'PharyngealArch3'}, {'predicate': 'Overlaps', 'target': 'PharyngealArch4'}, {'predicate': 'subClassOf', 'target': 'PharyngealCleft'}]"
} |
{
"aliases": null,
"definition": "Adult stage that refers to an adult who is over 40 and under 41.",
"id": "40YearOldHumanStage",
"label": "40-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000134",
"relationships": [
{
"predicate": "PartOf",
"target": "2544YearOldHumanStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "39YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "40-year-old human stage Adult stage that refers to an adult who is over 40 and under 41. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '39YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "Adult stage that refers to an adult who is over 41 and under 42.",
"id": "41YearOldHumanStage",
"label": "41-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000135",
"relationships": [
{
"predicate": "PartOf",
"target": "2544YearOldHumanStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "40YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "41-year-old human stage Adult stage that refers to an adult who is over 41 and under 42. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '40YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "Adult stage that refers to an adult who is over 42 and under 43.",
"id": "42YearOldHumanStage",
"label": "42-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000136",
"relationships": [
{
"predicate": "PartOf",
"target": "2544YearOldHumanStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "41YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "42-year-old human stage Adult stage that refers to an adult who is over 42 and under 43. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '41YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "Adult stage that refers to an adult who is over 43 and under 44.",
"id": "43YearOldHumanStage",
"label": "43-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000137",
"relationships": [
{
"predicate": "PartOf",
"target": "2544YearOldHumanStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "42YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "43-year-old human stage Adult stage that refers to an adult who is over 43 and under 44. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '42YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "Adult stage that refers to an adult who is over 44 and under 45.",
"id": "44YearOldHumanStage",
"label": "44-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000138",
"relationships": [
{
"predicate": "PartOf",
"target": "2544YearOldHumanStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "43YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "44-year-old human stage Adult stage that refers to an adult who is over 44 and under 45. [{'predicate': 'PartOf', 'target': '2544YearOldHumanStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '43YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": "A bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'.",
"id": "44_bipyridine",
"label": "4,4'-bipyridine",
"logical_definition": null,
"original_id": "CHEBI:30985",
"relationships": [
{
"predicate": "subClassOf",
"target": "Bipyridine"
}
]
} | 0 | {
"document": "4,4'-bipyridine A bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'. [{'predicate': 'subClassOf', 'target': 'Bipyridine'}]"
} |
{
"aliases": null,
"definition": "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.",
"id": "45X46XYMixedGonadalDysgenesis",
"label": "45,X/46,XY mixed gonadal dysgenesis",
"logical_definition": null,
"original_id": "MONDO:0015779",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Mosaic"
},
{
"predicate": "HasCharacteristic",
"target": "Hypoploid"
},
{
"predicate": "DiseaseArisesFromStructure",
"target": "ChromosomeY_Human_"
},
{
"predicate": "subClassOf",
"target": "GonadalDysgenesis_MONDO:0001967"
},
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "SexChromosomeDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. [{'predicate': 'HasCharacteristic', 'target': 'Mosaic'}, {'predicate': 'HasCharacteristic', 'target': 'Hypoploid'}, {'predicate': 'DiseaseArisesFromStructure', 'target': 'ChromosomeY_Human_'}, {'predicate': 'subClassOf', 'target': 'GonadalDysgenesis_MONDO:0001967'}, {'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': 'SexChromosomeDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "Middle aged stage that refers to an adult who is over 45 and under 46.",
"id": "45YearOldHumanStage",
"label": "45-year-old human stage",
"logical_definition": null,
"original_id": "HsapDv:0000139",
"relationships": [
{
"predicate": "PartOf",
"target": "HumanMiddleAgedStage"
},
{
"predicate": "ImmediatelyPrecededBy",
"target": "44YearOldHumanStage"
},
{
"predicate": "subClassOf",
"target": "HumanLifeCycleStage"
}
]
} | 0 | {
"document": "45-year-old human stage Middle aged stage that refers to an adult who is over 45 and under 46. [{'predicate': 'PartOf', 'target': 'HumanMiddleAgedStage'}, {'predicate': 'ImmediatelyPrecededBy', 'target': '44YearOldHumanStage'}, {'predicate': 'subClassOf', 'target': 'HumanLifeCycleStage'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfGonadalDevelopment",
"label": "46,XX disorder of gonadal development",
"logical_definition": null,
"original_id": "MONDO:0017961",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX disorder of gonadal development None [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.",
"id": "46XXDisorderOfSexDevelopment",
"label": "46,XX disorder of sex development",
"logical_definition": null,
"original_id": "MONDO:0017576",
"relationships": [
{
"predicate": "subClassOf",
"target": "DisorderOfSexualDifferentiation"
}
]
} | 0 | {
"document": "46,XX disorder of sex development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. [{'predicate': 'subClassOf', 'target': 'DisorderOfSexualDifferentiation'}]"
} |
{
"aliases": null,
"definition": "46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.",
"id": "46XXDisorderOfSexDevelopmentAnorectalAnomaliesSyndrome",
"label": "46,XX disorder of sex development-anorectal anomalies syndrome",
"logical_definition": null,
"original_id": "MONDO:0017573",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicAnorectalMalformation"
},
{
"predicate": "subClassOf",
"target": "SyndromicUterovaginalMalformation"
},
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. [{'predicate': 'subClassOf', 'target': 'SyndromicAnorectalMalformation'}, {'predicate': 'subClassOf', 'target': 'SyndromicUterovaginalMalformation'}, {'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfSexDevelopmentInducedByAndrogensExcess",
"label": "46,XX disorder of sex development induced by androgens excess",
"logical_definition": null,
"original_id": "MONDO:0020039",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX disorder of sex development induced by androgens excess None [{'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfSexDevelopmentInducedByEndogenousMaternalDerivedAndrogen",
"label": "46,XX disorder of sex development induced by endogenous maternal-derived androgen",
"logical_definition": null,
"original_id": "MONDO:0017963",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopmentInducedByMaternalDerivedAndrogen"
}
]
} | 0 | {
"document": "46,XX disorder of sex development induced by endogenous maternal-derived androgen None [{'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopmentInducedByMaternalDerivedAndrogen'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfSexDevelopmentInducedByExogenousMaternalDerivedAndrogen",
"label": "46,XX disorder of sex development induced by exogenous maternal-derived androgen",
"logical_definition": null,
"original_id": "MONDO:0017964",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopmentInducedByMaternalDerivedAndrogen"
}
]
} | 0 | {
"document": "46,XX disorder of sex development induced by exogenous maternal-derived androgen None [{'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopmentInducedByMaternalDerivedAndrogen'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfSexDevelopmentInducedByFetalAndrogensExcess",
"label": "46,XX disorder of sex development induced by fetal androgens excess",
"logical_definition": null,
"original_id": "MONDO:0019593",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "subClassOf",
"target": "FemaleReproductiveSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopmentInducedByAndrogensExcess"
}
]
} | 0 | {
"document": "46,XX disorder of sex development induced by fetal androgens excess None [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'subClassOf', 'target': 'FemaleReproductiveSystemDisorder'}, {'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopmentInducedByAndrogensExcess'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfSexDevelopmentInducedByFetoplacentalAndrogensExcess",
"label": "46,XX disorder of sex development induced by fetoplacental androgens excess",
"logical_definition": null,
"original_id": "MONDO:0017962",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "subClassOf",
"target": "FemaleReproductiveSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopmentInducedByAndrogensExcess"
}
]
} | 0 | {
"document": "46,XX disorder of sex development induced by fetoplacental androgens excess None [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'subClassOf', 'target': 'FemaleReproductiveSystemDisorder'}, {'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopmentInducedByAndrogensExcess'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfSexDevelopmentInducedByMaternalDerivedAndrogen",
"label": "46,XX disorder of sex development induced by maternal-derived androgen",
"logical_definition": null,
"original_id": "MONDO:0019608",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopmentInducedByAndrogensExcess"
}
]
} | 0 | {
"document": "46,XX disorder of sex development induced by maternal-derived androgen None [{'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopmentInducedByAndrogensExcess'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXDisorderOfSexDevelopmentSkeletalAnomaliesSyndrome",
"label": "46,XX disorder of sex development-skeletal anomalies syndrome",
"logical_definition": null,
"original_id": "MONDO:0009915",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX disorder of sex development-skeletal anomalies syndrome None [{'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.",
"id": "46XXGonadalDysgenesis",
"label": "46 XX gonadal dysgenesis",
"logical_definition": null,
"original_id": "MONDO:0009299",
"relationships": [
{
"predicate": "subClassOf",
"target": "GonadalDysgenesis_MONDO:0001967"
},
{
"predicate": "subClassOf",
"target": "46XXDisorderOfGonadalDevelopment"
},
{
"predicate": "subClassOf",
"target": "InheritedPrimaryOvarianFailure"
},
{
"predicate": "subClassOf",
"target": "FemaleInfertility"
},
{
"predicate": "subClassOf",
"target": "Hereditary46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46 XX gonadal dysgenesis 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. [{'predicate': 'subClassOf', 'target': 'GonadalDysgenesis_MONDO:0001967'}, {'predicate': 'subClassOf', 'target': '46XXDisorderOfGonadalDevelopment'}, {'predicate': 'subClassOf', 'target': 'InheritedPrimaryOvarianFailure'}, {'predicate': 'subClassOf', 'target': 'FemaleInfertility'}, {'predicate': 'subClassOf', 'target': 'Hereditary46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXOvarianDysgenesisShortStatureSyndrome",
"label": "46,XX ovarian dysgenesis-short stature syndrome",
"logical_definition": null,
"original_id": "MONDO:0014520",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MCM9"
},
{
"predicate": "subClassOf",
"target": "46XXDisorderOfGonadalDevelopment"
},
{
"predicate": "subClassOf",
"target": "InheritedPrimaryOvarianFailure"
},
{
"predicate": "subClassOf",
"target": "Hereditary46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX ovarian dysgenesis-short stature syndrome None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MCM9'}, {'predicate': 'subClassOf', 'target': '46XXDisorderOfGonadalDevelopment'}, {'predicate': 'subClassOf', 'target': 'InheritedPrimaryOvarianFailure'}, {'predicate': 'subClassOf', 'target': 'Hereditary46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.",
"id": "46XXOvotesticularDisorderOfSexDevelopment",
"label": "46,XX ovotesticular disorder of sex development",
"logical_definition": null,
"original_id": "MONDO:0016281",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXDisorderOfGonadalDevelopment"
},
{
"predicate": "subClassOf",
"target": "FemaleInfertility"
}
]
} | 0 | {
"document": "46,XX ovotesticular disorder of sex development 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. [{'predicate': 'subClassOf', 'target': '46XXDisorderOfGonadalDevelopment'}, {'predicate': 'subClassOf', 'target': 'FemaleInfertility'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXSexReversal1",
"label": "46,XX sex reversal 1",
"logical_definition": null,
"original_id": "MONDO:0100250",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "SRY"
},
{
"predicate": "subClassOf",
"target": "46XXTesticularDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX sex reversal 1 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'SRY'}, {'predicate': 'subClassOf', 'target': '46XXTesticularDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXSexReversal2",
"label": "46,XX sex reversal 2",
"logical_definition": null,
"original_id": "MONDO:0010218",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXTesticularDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX sex reversal 2 None [{'predicate': 'subClassOf', 'target': '46XXTesticularDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXSexReversal3",
"label": "46,XX sex reversal 3",
"logical_definition": null,
"original_id": "MONDO:0010442",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXTesticularDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX sex reversal 3 None [{'predicate': 'subClassOf', 'target': '46XXTesticularDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXSexReversal4",
"label": "46,XX sex reversal 4",
"logical_definition": null,
"original_id": "MONDO:0060489",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXTesticularDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX sex reversal 4 None [{'predicate': 'subClassOf', 'target': '46XXTesticularDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.",
"id": "46XXTesticularDisorderOfSexDevelopment",
"label": "46,XX testicular disorder of sex development",
"logical_definition": null,
"original_id": "MONDO:0100249",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX testicular disorder of sex development 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XXTrueHermaphroditism_SRYPositive",
"label": "46,XX true hermaphroditism, SRY-positive",
"logical_definition": null,
"original_id": "MONDO:0800381",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XXDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XX true hermaphroditism, SRY-positive None [{'predicate': 'subClassOf', 'target': '46XXDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.",
"id": "46XYCompleteGonadalDysgenesis",
"label": "46,XY complete gonadal dysgenesis",
"logical_definition": null,
"original_id": "MONDO:0010765",
"relationships": [
{
"predicate": "subClassOf",
"target": "GonadalDysgenesis_MONDO:0001967"
},
{
"predicate": "subClassOf",
"target": "46XYDisorderOfGonadalDevelopment"
},
{
"predicate": "subClassOf",
"target": "FamilialHypertrophicCardiomyopathy"
},
{
"predicate": "subClassOf",
"target": "Hereditary46XYDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. [{'predicate': 'subClassOf', 'target': 'GonadalDysgenesis_MONDO:0001967'}, {'predicate': 'subClassOf', 'target': '46XYDisorderOfGonadalDevelopment'}, {'predicate': 'subClassOf', 'target': 'FamilialHypertrophicCardiomyopathy'}, {'predicate': 'subClassOf', 'target': 'Hereditary46XYDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYDisorderOfGonadalDevelopment",
"label": "46,XY disorder of gonadal development",
"logical_definition": null,
"original_id": "MONDO:0017966",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "subClassOf",
"target": "46XYDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XY disorder of gonadal development None [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'subClassOf', 'target': '46XYDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "Differences of sex development in individuals with 46,XY karyotype.",
"id": "46XYDisorderOfSexDevelopment",
"label": "46,XY disorder of sex development",
"logical_definition": null,
"original_id": "MONDO:0020040",
"relationships": [
{
"predicate": "subClassOf",
"target": "DisorderOfSexualDifferentiation"
}
]
} | 0 | {
"document": "46,XY disorder of sex development Differences of sex development in individuals with 46,XY karyotype. [{'predicate': 'subClassOf', 'target': 'DisorderOfSexualDifferentiation'}]"
} |
{
"aliases": null,
"definition": "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.",
"id": "46XYDisorderOfSexDevelopmentDueTo17BetaHydroxysteroidDehydrogenase3Deficiency",
"label": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",
"logical_definition": null,
"original_id": "MONDO:0009916",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "HSD17B3"
},
{
"predicate": "DiseaseHasBasisInDisruptionOf",
"target": "Testosterone17BetaDehydrogenase_NADP_Activity"
},
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "46XYDisorderOfSexDevelopmentOfEndocrineOrigin"
},
{
"predicate": "subClassOf",
"target": "FemaleInfertility"
}
]
} | 0 | {
"document": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HSD17B3'}, {'predicate': 'DiseaseHasBasisInDisruptionOf', 'target': 'Testosterone17BetaDehydrogenase_NADP_Activity'}, {'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': '46XYDisorderOfSexDevelopmentOfEndocrineOrigin'}, {'predicate': 'subClassOf', 'target': 'FemaleInfertility'}]"
} |
{
"aliases": null,
"definition": "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.",
"id": "46XYDisorderOfSexDevelopmentDueTo5AlphaReductase2Deficiency",
"label": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",
"logical_definition": null,
"original_id": "MONDO:0009923",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "SRD5A2"
},
{
"predicate": "subClassOf",
"target": "InheritedLipidMetabolismDisorder"
},
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "DevelopmentalAnomalyOfMetabolicOrigin"
},
{
"predicate": "subClassOf",
"target": "46XYDisorderOfSexDevelopmentOfEndocrineOrigin"
},
{
"predicate": "subClassOf",
"target": "Hereditary46XYDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'SRD5A2'}, {'predicate': 'subClassOf', 'target': 'InheritedLipidMetabolismDisorder'}, {'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': 'DevelopmentalAnomalyOfMetabolicOrigin'}, {'predicate': 'subClassOf', 'target': '46XYDisorderOfSexDevelopmentOfEndocrineOrigin'}, {'predicate': 'subClassOf', 'target': 'Hereditary46XYDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.",
"id": "46XYDisorderOfSexDevelopmentDueToIsolated1720LyaseDeficiency",
"label": "46,XY disorder of sex development due to isolated 17,20-lyase deficiency",
"logical_definition": null,
"original_id": "MONDO:0019597",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalAdrenalHyperplasiaDueTo17AlphaHydroxylaseDeficiency"
}
]
} | 0 | {
"document": "46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. [{'predicate': 'subClassOf', 'target': 'CongenitalAdrenalHyperplasiaDueTo17AlphaHydroxylaseDeficiency'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYDisorderOfSexDevelopmentDueToTesticular1720DesmolaseDeficiency",
"label": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",
"logical_definition": null,
"original_id": "MONDO:0013664",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
},
{
"predicate": "subClassOf",
"target": "46XYDisorderOfSexDevelopmentDueToIsolated1720LyaseDeficiency"
}
]
} | 0 | {
"document": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency None [{'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}, {'predicate': 'subClassOf', 'target': '46XYDisorderOfSexDevelopmentDueToIsolated1720LyaseDeficiency'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYDisorderOfSexDevelopmentInducedByMaternalExposureToEndocrineDisruptors",
"label": "46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors",
"logical_definition": null,
"original_id": "MONDO:0017974",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XYDisorderOfSexDevelopmentOfEndocrineOrigin"
}
]
} | 0 | {
"document": "46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors None [{'predicate': 'subClassOf', 'target': '46XYDisorderOfSexDevelopmentOfEndocrineOrigin'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYDisorderOfSexDevelopmentOfEndocrineOrigin",
"label": "46,XY disorder of sex development of endocrine origin",
"logical_definition": null,
"original_id": "MONDO:0017969",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XYDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "46,XY disorder of sex development of endocrine origin None [{'predicate': 'subClassOf', 'target': '46XYDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYGonadalDysgenesisMotorAndSensoryNeuropathySyndrome",
"label": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",
"logical_definition": null,
"original_id": "MONDO:0011766",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "DHH"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'DHH'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": "46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.",
"id": "46XYOvotesticularDisorderOfSexDevelopment",
"label": "46,XY ovotesticular disorder of sex development",
"logical_definition": null,
"original_id": "MONDO:0017968",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XYDisorderOfGonadalDevelopment"
}
]
} | 0 | {
"document": "46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. [{'predicate': 'subClassOf', 'target': '46XYDisorderOfGonadalDevelopment'}]"
} |
{
"aliases": null,
"definition": "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.",
"id": "46XYPartialGonadalDysgenesis",
"label": "46,XY partial gonadal dysgenesis",
"logical_definition": null,
"original_id": "MONDO:0016674",
"relationships": [
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "46XYDisorderOfGonadalDevelopment"
},
{
"predicate": "subClassOf",
"target": "FemaleInfertility"
}
]
} | 0 | {
"document": "46,XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. [{'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': '46XYDisorderOfGonadalDevelopment'}, {'predicate': 'subClassOf', 'target': 'FemaleInfertility'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal1",
"label": "46,XY sex reversal 1",
"logical_definition": null,
"original_id": "MONDO:0020712",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "SRY"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 1 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'SRY'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal10",
"label": "46,XY sex reversal 10",
"logical_definition": null,
"original_id": "MONDO:0014634",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "SOX9"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
},
{
"predicate": "subClassOf",
"target": "46XYPartialGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 10 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'SOX9'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}, {'predicate': 'subClassOf', 'target': '46XYPartialGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": "Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.",
"id": "46XYSexReversal11",
"label": "46,XY sex reversal 11",
"logical_definition": null,
"original_id": "MONDO:8000015",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "DHX37"
},
{
"predicate": "subClassOf",
"target": "MaleInfertility"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 11 Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'DHX37'}, {'predicate': 'subClassOf', 'target': 'MaleInfertility'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal2",
"label": "46,XY sex reversal 2",
"logical_definition": null,
"original_id": "MONDO:0010226",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "NR0B1"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
},
{
"predicate": "subClassOf",
"target": "46XYPartialGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 2 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'NR0B1'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}, {'predicate': 'subClassOf', 'target': '46XYPartialGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal3",
"label": "46,XY sex reversal 3",
"logical_definition": null,
"original_id": "MONDO:0013066",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "NR5A1"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
},
{
"predicate": "subClassOf",
"target": "46XYPartialGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 3 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'NR5A1'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}, {'predicate': 'subClassOf', 'target': '46XYPartialGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": "Sex reversal in an individual associated with a 9p24.3 deletion.",
"id": "46XYSexReversal4",
"label": "46,XY sex reversal 4",
"logical_definition": null,
"original_id": "MONDO:0007938",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
},
{
"predicate": "subClassOf",
"target": "46XYPartialGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 4 Sex reversal in an individual associated with a 9p24.3 deletion. [{'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}, {'predicate': 'subClassOf', 'target': '46XYPartialGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal5",
"label": "46,XY sex reversal 5",
"logical_definition": null,
"original_id": "MONDO:0013120",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CBX2"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 5 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CBX2'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "46XYSexReversal6",
"label": "46,XY sex reversal 6",
"logical_definition": null,
"original_id": "MONDO:0013410",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MAP3K1"
},
{
"predicate": "subClassOf",
"target": "46XYCompleteGonadalDysgenesis"
},
{
"predicate": "subClassOf",
"target": "46XYPartialGonadalDysgenesis"
}
]
} | 0 | {
"document": "46,XY sex reversal 6 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MAP3K1'}, {'predicate': 'subClassOf', 'target': '46XYCompleteGonadalDysgenesis'}, {'predicate': 'subClassOf', 'target': '46XYPartialGonadalDysgenesis'}]"
} |