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{
"aliases": null,
"definition": "An X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.",
"id": "XLinkedNeurodegenerativeSyndrome_HamelType",
"label": "X-linked neurodegenerative syndrome, Hamel type",
"logical_definition": null,
"original_id": "MONDO:0019429",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritedNeurodegenerativeDisorder"
}
]
} | 0 | {
"document": "X-linked neurodegenerative syndrome, Hamel type An X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. [{'predicate': 'subClassOf', 'target': 'InheritedNeurodegenerativeDisorder'}]"
} |
{
"aliases": null,
"definition": "X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.",
"id": "XLinkedNonProgressiveCerebellarAtaxia",
"label": "X-linked non progressive cerebellar ataxia",
"logical_definition": null,
"original_id": "MONDO:0010404",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedCerebellarAtaxia"
}
]
} | 0 | {
"document": "X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. [{'predicate': 'subClassOf', 'target': 'XLinkedCerebellarAtaxia'}]"
} |
{
"aliases": null,
"definition": "X-linked form of nonsyndromic deafness.",
"id": "XLinkedNonsyndromicHearingLoss",
"label": "X-linked nonsyndromic hearing loss",
"logical_definition": null,
"original_id": "MONDO:0019586",
"relationships": [
{
"predicate": "subClassOf",
"target": "PrelingualNonSyndromicGeneticHearingLoss"
},
{
"predicate": "subClassOf",
"target": "PostlingualNonSyndromicGeneticHearingLoss"
},
{
"predicate": "subClassOf",
"target": "XLinkedDeafness"
}
]
} | 0 | {
"document": "X-linked nonsyndromic hearing loss X-linked form of nonsyndromic deafness. [{'predicate': 'subClassOf', 'target': 'PrelingualNonSyndromicGeneticHearingLoss'}, {'predicate': 'subClassOf', 'target': 'PostlingualNonSyndromicGeneticHearingLoss'}, {'predicate': 'subClassOf', 'target': 'XLinkedDeafness'}]"
} |
{
"aliases": null,
"definition": "X-linked form of Opitz G/BBB syndrome.",
"id": "XLinkedOpitzGBBBSyndrome",
"label": "X-linked Opitz G/BBB syndrome",
"logical_definition": null,
"original_id": "MONDO:0010222",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MID1"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "OpitzGBBBSyndrome"
}
]
} | 0 | {
"document": "X-linked Opitz G/BBB syndrome X-linked form of Opitz G/BBB syndrome. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MID1'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'OpitzGBBBSyndrome'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedOsteoporosisWithFractures",
"label": "X-linked osteoporosis with fractures",
"logical_definition": null,
"original_id": "MONDO:0018315",
"relationships": [
{
"predicate": "subClassOf",
"target": "Osteoporosis_MONDO:0005298"
}
]
} | 0 | {
"document": "X-linked osteoporosis with fractures None [{'predicate': 'subClassOf', 'target': 'Osteoporosis_MONDO:0005298'}]"
} |
{
"aliases": null,
"definition": "X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.",
"id": "XLinkedParkinsonismSpasticitySyndrome",
"label": "X-linked parkinsonism-spasticity syndrome",
"logical_definition": null,
"original_id": "MONDO:0010482",
"relationships": [
{
"predicate": "subClassOf",
"target": "ParkinsonianDisorder"
},
{
"predicate": "subClassOf",
"target": "ATP6AP2RelatedDisorder"
}
]
} | 0 | {
"document": "X-linked parkinsonism-spasticity syndrome X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. [{'predicate': 'subClassOf', 'target': 'ParkinsonianDisorder'}, {'predicate': 'subClassOf', 'target': 'ATP6AP2RelatedDisorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedProgressiveCerebellarAtaxia",
"label": "X-linked progressive cerebellar ataxia",
"logical_definition": null,
"original_id": "MONDO:0010547",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedCerebellarAtaxia"
}
]
} | 0 | {
"document": "X-linked progressive cerebellar ataxia None [{'predicate': 'subClassOf', 'target': 'XLinkedCerebellarAtaxia'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedPureSpasticParaplegia",
"label": "X-linked pure spastic paraplegia",
"logical_definition": null,
"original_id": "MONDO:0017912",
"relationships": [
{
"predicate": "subClassOf",
"target": "PureHereditarySpasticParaplegia"
}
]
} | 0 | {
"document": "X-linked pure spastic paraplegia None [{'predicate': 'subClassOf', 'target': 'PureHereditarySpasticParaplegia'}]"
} |
{
"aliases": null,
"definition": "X-linked recessive form of disease.",
"id": "XLinkedRecessiveDisease",
"label": "X-linked recessive disease",
"logical_definition": null,
"original_id": "MONDO:0020605",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "XLinkedRecessiveInheritance"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
}
]
} | 0 | {
"document": "X-linked recessive disease X-linked recessive form of disease. [{'predicate': 'HasCharacteristic', 'target': 'XLinkedRecessiveInheritance'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}]"
} |
{
"aliases": null,
"definition": "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.",
"id": "XLinkedRecessiveInheritance",
"label": "X-linked recessive inheritance",
"logical_definition": null,
"original_id": "HP:0001419",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedInheritance"
}
]
} | 0 | {
"document": "X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [{'predicate': 'subClassOf', 'target': 'XLinkedInheritance'}]"
} |
{
"aliases": null,
"definition": "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.",
"id": "XLinkedRecessiveMitochondrialMyopathy",
"label": "X-linked recessive mitochondrial myopathy",
"logical_definition": null,
"original_id": "MONDO:0100138",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "APOO"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "InbornMitochondrialMyopathy"
},
{
"predicate": "subClassOf",
"target": "NeuromuscularDisease"
},
{
"predicate": "subClassOf",
"target": "XLinkedRecessiveDisease"
}
]
} | 0 | {
"document": "X-linked recessive mitochondrial myopathy A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'APOO'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'InbornMitochondrialMyopathy'}, {'predicate': 'subClassOf', 'target': 'NeuromuscularDisease'}, {'predicate': 'subClassOf', 'target': 'XLinkedRecessiveDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.",
"id": "XLinkedRecessiveOcularAlbinism",
"label": "X-linked recessive ocular albinism",
"logical_definition": null,
"original_id": "MONDO:0021019",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "GPR143"
},
{
"predicate": "subClassOf",
"target": "OcularAlbinism"
},
{
"predicate": "subClassOf",
"target": "XLinkedRecessiveDisease"
}
]
} | 0 | {
"document": "X-linked recessive ocular albinism X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'GPR143'}, {'predicate': 'subClassOf', 'target': 'OcularAlbinism'}, {'predicate': 'subClassOf', 'target': 'XLinkedRecessiveDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.",
"id": "XLinkedReticulatePigmentaryDisorder",
"label": "X-linked reticulate pigmentary disorder",
"logical_definition": null,
"original_id": "MONDO:0010523",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "POLA1"
},
{
"predicate": "subClassOf",
"target": "SkinDisorder"
},
{
"predicate": "subClassOf",
"target": "Type1Interferonopathy"
},
{
"predicate": "subClassOf",
"target": "SyndromicCornealDystrophy"
}
]
} | 0 | {
"document": "X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'POLA1'}, {'predicate': 'subClassOf', 'target': 'SkinDisorder'}, {'predicate': 'subClassOf', 'target': 'Type1Interferonopathy'}, {'predicate': 'subClassOf', 'target': 'SyndromicCornealDystrophy'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedRetinalDysplasia",
"label": "X-linked retinal dysplasia",
"logical_definition": null,
"original_id": "MONDO:0010722",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritedRetinalDystrophy"
}
]
} | 0 | {
"document": "X-linked retinal dysplasia None [{'predicate': 'subClassOf', 'target': 'InheritedRetinalDystrophy'}]"
} |
{
"aliases": null,
"definition": "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.",
"id": "XLinkedRetinoschisis",
"label": "X-linked retinoschisis",
"logical_definition": null,
"original_id": "MONDO:0010725",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "RS1"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "Retinoschisis"
},
{
"predicate": "subClassOf",
"target": "NonSyndromicDevelopmentalDefectOfTheEye"
},
{
"predicate": "subClassOf",
"target": "InheritedRetinalDystrophy"
},
{
"predicate": "subClassOf",
"target": "VitreoretinalDegeneration"
}
]
} | 0 | {
"document": "X-linked retinoschisis A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'RS1'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'Retinoschisis'}, {'predicate': 'subClassOf', 'target': 'NonSyndromicDevelopmentalDefectOfTheEye'}, {'predicate': 'subClassOf', 'target': 'InheritedRetinalDystrophy'}, {'predicate': 'subClassOf', 'target': 'VitreoretinalDegeneration'}]"
} |
{
"aliases": null,
"definition": "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.",
"id": "XLinkedScapuloperonealMuscularDystrophy",
"label": "X-linked scapuloperoneal muscular dystrophy",
"logical_definition": null,
"original_id": "MONDO:0010400",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "FHL1"
},
{
"predicate": "DiseaseHasFeature",
"target": "MuscleFiberHyalineBodies"
},
{
"predicate": "subClassOf",
"target": "ScapuloperonealMyopathy"
}
]
} | 0 | {
"document": "X-linked scapuloperoneal muscular dystrophy X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'FHL1'}, {'predicate': 'DiseaseHasFeature', 'target': 'MuscleFiberHyalineBodies'}, {'predicate': 'subClassOf', 'target': 'ScapuloperonealMyopathy'}]"
} |
{
"aliases": null,
"definition": "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.",
"id": "XLinkedSevereCongenitalNeutropenia",
"label": "X-linked severe congenital neutropenia",
"logical_definition": null,
"original_id": "MONDO:0010294",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "WAS"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "SevereCongenitalNeutropenia"
}
]
} | 0 | {
"document": "X-linked severe congenital neutropenia This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'WAS'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'SevereCongenitalNeutropenia'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedSevereSyndromicThoracicAorticAneurysmAndDissection",
"label": "X-linked severe syndromic thoracic aortic aneurysm and dissection",
"logical_definition": null,
"original_id": "MONDO:0850095",
"relationships": [
{
"predicate": "subClassOf",
"target": "AorticDisorder"
}
]
} | 0 | {
"document": "X-linked severe syndromic thoracic aortic aneurysm and dissection None [{'predicate': 'subClassOf', 'target': 'AorticDisorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedSideroblasticAnemia1",
"label": "X-linked sideroblastic anemia 1",
"logical_definition": null,
"original_id": "MONDO:0020721",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ALAS2"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "InbornDisorderOfPorphyrinMetabolism"
},
{
"predicate": "subClassOf",
"target": "InheritedSideroblasticAnemia"
}
]
} | 0 | {
"document": "X-linked sideroblastic anemia 1 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ALAS2'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'InbornDisorderOfPorphyrinMetabolism'}, {'predicate': 'subClassOf', 'target': 'InheritedSideroblasticAnemia'}]"
} |
{
"aliases": null,
"definition": "A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.",
"id": "XLinkedSideroblasticAnemiaWithAtaxia",
"label": "X-linked sideroblastic anemia with ataxia",
"logical_definition": null,
"original_id": "MONDO:0010524",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ABCB7"
},
{
"predicate": "subClassOf",
"target": "XLinkedCerebellarAtaxia"
},
{
"predicate": "subClassOf",
"target": "UnspecifiedInbornMitochondrialDisorder"
},
{
"predicate": "subClassOf",
"target": "InheritedSideroblasticAnemia"
}
]
} | 0 | {
"document": "X-linked sideroblastic anemia with ataxia A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ABCB7'}, {'predicate': 'subClassOf', 'target': 'XLinkedCerebellarAtaxia'}, {'predicate': 'subClassOf', 'target': 'UnspecifiedInbornMitochondrialDisorder'}, {'predicate': 'subClassOf', 'target': 'InheritedSideroblasticAnemia'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedSpasticityIntellectualDisabilityEpilepsySyndrome",
"label": "X-linked spasticity-intellectual disability-epilepsy syndrome",
"logical_definition": null,
"original_id": "MONDO:0017856",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicDisease"
}
]
} | 0 | {
"document": "X-linked spasticity-intellectual disability-epilepsy syndrome None [{'predicate': 'subClassOf', 'target': 'SyndromicDisease'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedSpermatogenicFailure1",
"label": "X-linked spermatogenic failure 1",
"logical_definition": null,
"original_id": "MONDO:0056795",
"relationships": [
{
"predicate": "subClassOf",
"target": "SertoliCellOnlySyndrome"
}
]
} | 0 | {
"document": "X-linked spermatogenic failure 1 None [{'predicate': 'subClassOf', 'target': 'SertoliCellOnlySyndrome'}]"
} |
{
"aliases": null,
"definition": "A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.",
"id": "XLinkedSpinocerebellarAtaxiaType3",
"label": "X-linked spinocerebellar ataxia type 3",
"logical_definition": null,
"original_id": "MONDO:0010529",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedCerebellarAtaxia"
}
]
} | 0 | {
"document": "X-linked spinocerebellar ataxia type 3 A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. [{'predicate': 'subClassOf', 'target': 'XLinkedCerebellarAtaxia'}]"
} |
{
"aliases": null,
"definition": "Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.",
"id": "XLinkedSpinocerebellarAtaxiaType4",
"label": "X-linked spinocerebellar ataxia type 4",
"logical_definition": null,
"original_id": "MONDO:0010534",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedCerebellarAtaxia"
}
]
} | 0 | {
"document": "X-linked spinocerebellar ataxia type 4 Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. [{'predicate': 'subClassOf', 'target': 'XLinkedCerebellarAtaxia'}]"
} |
{
"aliases": null,
"definition": "X-linked form of spondyloepimetaphyseal dysplasia.",
"id": "XLinkedSpondyloepimetaphysealDysplasia",
"label": "X-linked spondyloepimetaphyseal dysplasia",
"logical_definition": null,
"original_id": "MONDO:0010248",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "BGN"
},
{
"predicate": "subClassOf",
"target": "SpondyloepiphysealDysplasia"
}
]
} | 0 | {
"document": "X-linked spondyloepimetaphyseal dysplasia X-linked form of spondyloepimetaphyseal dysplasia. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'BGN'}, {'predicate': 'subClassOf', 'target': 'SpondyloepiphysealDysplasia'}]"
} |
{
"aliases": null,
"definition": "A syndromic intellectual disability with an X-linked mode of inheritance.",
"id": "XLinkedSyndromicIntellectualDisability",
"label": "X-linked syndromic intellectual disability",
"logical_definition": null,
"original_id": "MONDO:0020119",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Rare"
},
{
"predicate": "subClassOf",
"target": "SyndromicIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked syndromic intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. [{'predicate': 'HasCharacteristic', 'target': 'Rare'}, {'predicate': 'subClassOf', 'target': 'SyndromicIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XPA",
"label": "XPA",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/12814>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XPA None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XPC",
"label": "XPC",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/12816>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XPC None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XPNPEP2",
"label": "XPNPEP2",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/12823>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XPNPEP2 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XPNPEP3",
"label": "XPNPEP3",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/28052>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XPNPEP3 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XPR1",
"label": "XPR1",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/12827>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XPR1 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XRCC2",
"label": "XRCC2",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/12829>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XRCC2 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XRCC3",
"label": "XRCC3",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/12830>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XRCC3 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XRCC4",
"label": "XRCC4",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/12831>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XRCC4 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.",
"id": "XSmallRings",
"label": "X small rings",
"logical_definition": null,
"original_id": "MONDO:0019926",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritedPrimaryOvarianFailure"
},
{
"predicate": "subClassOf",
"target": "ChromosomeXDisorder"
},
{
"predicate": "subClassOf",
"target": "RingChromosomeDisorder"
}
]
} | 0 | {
"document": "X small rings X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. [{'predicate': 'subClassOf', 'target': 'InheritedPrimaryOvarianFailure'}, {'predicate': 'subClassOf', 'target': 'ChromosomeXDisorder'}, {'predicate': 'subClassOf', 'target': 'RingChromosomeDisorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XYLT1",
"label": "XYLT1",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/15516>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XYLT1 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XYLT1CongenitalDisorderOfGlycosylation",
"label": "XYLT1-congenital disorder of glycosylation",
"logical_definition": null,
"original_id": "MONDO:0018273",
"relationships": [
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "DevelopmentalAnomalyOfMetabolicOrigin"
},
{
"predicate": "subClassOf",
"target": "DisorderOfOXylosylglycanSynthesis"
}
]
} | 0 | {
"document": "XYLT1-congenital disorder of glycosylation None [{'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'DevelopmentalAnomalyOfMetabolicOrigin'}, {'predicate': 'subClassOf', 'target': 'DisorderOfOXylosylglycanSynthesis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XYLT2",
"label": "XYLT2",
"logical_definition": null,
"original_id": "<http://identifiers.org/hgnc/15517>",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gene"
}
]
} | 0 | {
"document": "XYLT2 None [{'predicate': 'subClassOf', 'target': 'Gene'}]"
} |
{
"aliases": null,
"definition": "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.",
"id": "XYTypeGonadalDysgenesisAssociatedAnomaliesSyndrome",
"label": "XY type gonadal dysgenesis-associated anomalies syndrome",
"logical_definition": null,
"original_id": "MONDO:0009302",
"relationships": [
{
"predicate": "subClassOf",
"target": "46XYDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "XY type gonadal dysgenesis-associated anomalies syndrome Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive. [{'predicate': 'subClassOf', 'target': '46XYDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "The presence of xanthomata in the skin of the eyelid.",
"id": "Xanthelasma",
"label": "Xanthelasma",
"logical_definition": null,
"original_id": "HP:0001114",
"relationships": [
{
"predicate": "subClassOf",
"target": "Xanthomatosis"
},
{
"predicate": "subClassOf",
"target": "NodularChangesAffectingTheEyelids"
}
]
} | 0 | {
"document": "Xanthelasma The presence of xanthomata in the skin of the eyelid. [{'predicate': 'subClassOf', 'target': 'Xanthomatosis'}, {'predicate': 'subClassOf', 'target': 'NodularChangesAffectingTheEyelids'}]"
} |
{
"aliases": null,
"definition": "The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids.",
"id": "XanthineMetabolicProcess",
"label": "xanthine metabolic process",
"logical_definition": null,
"original_id": "GO:0046110",
"relationships": [
{
"predicate": "subClassOf",
"target": "PurineNucleobaseMetabolicProcess"
}
]
} | 0 | {
"document": "xanthine metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. [{'predicate': 'subClassOf', 'target': 'PurineNucleobaseMetabolicProcess'}]"
} |
{
"aliases": null,
"definition": "A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.",
"id": "Xanthinuria",
"label": "xanthinuria",
"logical_definition": null,
"original_id": "MONDO:0000721",
"relationships": [
{
"predicate": "DiseaseDisrupts",
"target": "XanthineMetabolicProcess"
},
{
"predicate": "subClassOf",
"target": "MetabolicDisease"
}
]
} | 0 | {
"document": "xanthinuria A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. [{'predicate': 'DiseaseDisrupts', 'target': 'XanthineMetabolicProcess'}, {'predicate': 'subClassOf', 'target': 'MetabolicDisease'}]"
} |
{
"aliases": null,
"definition": "A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.",
"id": "XanthinuriaTypeI",
"label": "xanthinuria type I",
"logical_definition": null,
"original_id": "MONDO:0010209",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "XDH"
},
{
"predicate": "subClassOf",
"target": "HereditaryXanthinuria"
}
]
} | 0 | {
"document": "xanthinuria type I A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'XDH'}, {'predicate': 'subClassOf', 'target': 'HereditaryXanthinuria'}]"
} |
{
"aliases": null,
"definition": "Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.",
"id": "XanthinuriaTypeII",
"label": "xanthinuria type II",
"logical_definition": null,
"original_id": "MONDO:0011346",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MOCOS"
},
{
"predicate": "subClassOf",
"target": "HereditaryXanthinuria"
}
]
} | 0 | {
"document": "xanthinuria type II Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MOCOS'}, {'predicate': 'subClassOf', 'target': 'HereditaryXanthinuria'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xanthogranuloma",
"label": "xanthogranuloma",
"logical_definition": null,
"original_id": "MONDO:0024617",
"relationships": [
{
"predicate": "subClassOf",
"target": "NonLangerhansCellHistiocytosis"
}
]
} | 0 | {
"document": "xanthogranuloma None [{'predicate': 'subClassOf', 'target': 'NonLangerhansCellHistiocytosis'}]"
} |
{
"aliases": null,
"definition": "Cholecystitis that is characterized by nodules containing lipid.",
"id": "XanthogranulomatousCholecystitis",
"label": "xanthogranulomatous cholecystitis",
"logical_definition": null,
"original_id": "MONDO:0004875",
"relationships": [
{
"predicate": "subClassOf",
"target": "Cholecystitis"
}
]
} | 0 | {
"document": "xanthogranulomatous cholecystitis Cholecystitis that is characterized by nodules containing lipid. [{'predicate': 'subClassOf', 'target': 'Cholecystitis'}]"
} |
{
"aliases": null,
"definition": "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.",
"id": "XanthogranulomatousPyelonephritis",
"label": "xanthogranulomatous pyelonephritis",
"logical_definition": null,
"original_id": "MONDO:0007022",
"relationships": [
{
"predicate": "subClassOf",
"target": "ChronicPyelonephritis"
}
]
} | 0 | {
"document": "xanthogranulomatous pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. [{'predicate': 'subClassOf', 'target': 'ChronicPyelonephritis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XanthogranulomatousSialadenitis",
"label": "xanthogranulomatous sialadenitis",
"logical_definition": null,
"original_id": "MONDO:0027091",
"relationships": [
{
"predicate": "subClassOf",
"target": "Sialadenitis"
}
]
} | 0 | {
"document": "xanthogranulomatous sialadenitis None [{'predicate': 'subClassOf', 'target': 'Sialadenitis'}]"
} |
{
"aliases": null,
"definition": "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.",
"id": "Xanthoma",
"label": "xanthoma",
"logical_definition": null,
"original_id": "MONDO:0005236",
"relationships": [
{
"predicate": "subClassOf",
"target": "MetabolicDisease"
}
]
} | 0 | {
"document": "xanthoma A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. [{'predicate': 'subClassOf', 'target': 'MetabolicDisease'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XanthomaDisseminatum",
"label": "xanthoma disseminatum",
"logical_definition": null,
"original_id": "MONDO:0015535",
"relationships": [
{
"predicate": "subClassOf",
"target": "NonLangerhansCellHistiocytosis"
}
]
} | 0 | {
"document": "xanthoma disseminatum None [{'predicate': 'subClassOf', 'target': 'NonLangerhansCellHistiocytosis'}]"
} |
{
"aliases": null,
"definition": "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.",
"id": "Xanthomatosis",
"label": "Xanthomatosis",
"logical_definition": null,
"original_id": "HP:0000991",
"relationships": [
{
"predicate": "subClassOf",
"target": "LocalizedSkinLesion"
}
]
} | 0 | {
"document": "Xanthomatosis The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. [{'predicate': 'subClassOf', 'target': 'LocalizedSkinLesion'}]"
} |
{
"aliases": null,
"definition": "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.",
"id": "Xanthomatosis_MONDO:0002615",
"label": "xanthomatosis",
"logical_definition": null,
"original_id": "MONDO:0002615",
"relationships": [
{
"predicate": "DiseaseHasFeature",
"target": "Xanthelasma"
},
{
"predicate": "DiseaseHasFeature",
"target": "Xanthoma"
},
{
"predicate": "subClassOf",
"target": "LysosomalLipidStorageDisorder"
}
]
} | 0 | {
"document": "xanthomatosis A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. [{'predicate': 'DiseaseHasFeature', 'target': 'Xanthelasma'}, {'predicate': 'DiseaseHasFeature', 'target': 'Xanthoma'}, {'predicate': 'subClassOf', 'target': 'LysosomalLipidStorageDisorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xanthomatosis_susceptibilityTo",
"label": "xanthomatosis, susceptibility to",
"logical_definition": null,
"original_id": "MONDO:0011207",
"relationships": [
{
"predicate": "PredisposesTowards",
"target": "Xanthomatosis_MONDO:0002615"
},
{
"predicate": "subClassOf",
"target": "InheritedDiseaseSusceptibility"
}
]
} | 0 | {
"document": "xanthomatosis, susceptibility to None [{'predicate': 'PredisposesTowards', 'target': 'Xanthomatosis_MONDO:0002615'}, {'predicate': 'subClassOf', 'target': 'InheritedDiseaseSusceptibility'}]"
} |
{
"aliases": null,
"definition": "A xenobiotic (Greek, xenos \"foreign\"; bios \"life\") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means.",
"id": "Xenobiotic",
"label": "xenobiotic",
"logical_definition": null,
"original_id": "CHEBI:35703",
"relationships": [
{
"predicate": "subClassOf",
"target": "BiologicalRole"
}
]
} | 0 | {
"document": "xenobiotic A xenobiotic (Greek, xenos \"foreign\"; bios \"life\") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. [{'predicate': 'subClassOf', 'target': 'BiologicalRole'}]"
} |
{
"aliases": null,
"definition": "Any metabolite produced by metabolism of a xenobiotic compound.",
"id": "XenobioticMetabolite",
"label": "xenobiotic metabolite",
"logical_definition": null,
"original_id": "CHEBI:76206",
"relationships": [
{
"predicate": "subClassOf",
"target": "Metabolite"
}
]
} | 0 | {
"document": "xenobiotic metabolite Any metabolite produced by metabolism of a xenobiotic compound. [{'predicate': 'subClassOf', 'target': 'Metabolite'}]"
} |
{
"aliases": null,
"definition": "The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.",
"id": "XenobioticTransmembraneTransport",
"label": "xenobiotic transmembrane transport",
"logical_definition": null,
"original_id": "GO:0006855",
"relationships": [
{
"predicate": "subClassOf",
"target": "XenobioticTransport"
},
{
"predicate": "subClassOf",
"target": "TransmembraneTransport"
}
]
} | 0 | {
"document": "xenobiotic transmembrane transport The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. [{'predicate': 'subClassOf', 'target': 'XenobioticTransport'}, {'predicate': 'subClassOf', 'target': 'TransmembraneTransport'}]"
} |
{
"aliases": null,
"definition": "The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.",
"id": "XenobioticTransport",
"label": "xenobiotic transport",
"logical_definition": null,
"original_id": "GO:0042908",
"relationships": [
{
"predicate": "subClassOf",
"target": "Transport"
}
]
} | 0 | {
"document": "xenobiotic transport The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. [{'predicate': 'subClassOf', 'target': 'Transport'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xenopsylla",
"label": "Xenopsylla",
"logical_definition": null,
"original_id": "NCBITaxon:163158",
"relationships": [
{
"predicate": "subClassOf",
"target": "Xenopsyllinae"
}
]
} | 0 | {
"document": "Xenopsylla None [{'predicate': 'subClassOf', 'target': 'Xenopsyllinae'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XenopsyllaCheopis",
"label": "Xenopsylla cheopis",
"logical_definition": null,
"original_id": "NCBITaxon:163159",
"relationships": [
{
"predicate": "subClassOf",
"target": "Xenopsylla"
}
]
} | 0 | {
"document": "Xenopsylla cheopis None [{'predicate': 'subClassOf', 'target': 'Xenopsylla'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xenopsyllinae",
"label": "Xenopsyllinae",
"logical_definition": null,
"original_id": "NCBITaxon:476427",
"relationships": [
{
"predicate": "subClassOf",
"target": "Pulicidae"
}
]
} | 0 | {
"document": "Xenopsyllinae None [{'predicate': 'subClassOf', 'target': 'Pulicidae'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XerodermaOfEyelid",
"label": "xeroderma of eyelid",
"logical_definition": null,
"original_id": "MONDO:0004718",
"relationships": [
{
"predicate": "subClassOf",
"target": "NoninfectiousDermatosesOfEyelid"
}
]
} | 0 | {
"document": "xeroderma of eyelid None [{'predicate': 'subClassOf', 'target': 'NoninfectiousDermatosesOfEyelid'}]"
} |
{
"aliases": null,
"definition": "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).",
"id": "XerodermaPigmentosum",
"label": "xeroderma pigmentosum",
"logical_definition": null,
"original_id": "MONDO:0019600",
"relationships": [
{
"predicate": "DiseaseHasBasisInDisruptionOf",
"target": "UVDamageExcisionRepair"
},
{
"predicate": "subClassOf",
"target": "HereditaryPhotodermatosis"
},
{
"predicate": "subClassOf",
"target": "DNARepairDisease"
}
]
} | 0 | {
"document": "xeroderma pigmentosum Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). [{'predicate': 'DiseaseHasBasisInDisruptionOf', 'target': 'UVDamageExcisionRepair'}, {'predicate': 'subClassOf', 'target': 'HereditaryPhotodermatosis'}, {'predicate': 'subClassOf', 'target': 'DNARepairDisease'}]"
} |
{
"aliases": null,
"definition": "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).",
"id": "XerodermaPigmentosumCockayneSyndromeComplex",
"label": "xeroderma pigmentosum-Cockayne syndrome complex",
"logical_definition": null,
"original_id": "MONDO:0016354",
"relationships": [
{
"predicate": "DiseaseSharesFeaturesOf",
"target": "CockayneSyndrome"
},
{
"predicate": "DiseaseSharesFeaturesOf",
"target": "XerodermaPigmentosum"
},
{
"predicate": "subClassOf",
"target": "HereditaryPhotodermatosis"
},
{
"predicate": "subClassOf",
"target": "SyndromicRetinitisPigmentosa"
}
]
} | 0 | {
"document": "xeroderma pigmentosum-Cockayne syndrome complex Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). [{'predicate': 'DiseaseSharesFeaturesOf', 'target': 'CockayneSyndrome'}, {'predicate': 'DiseaseSharesFeaturesOf', 'target': 'XerodermaPigmentosum'}, {'predicate': 'subClassOf', 'target': 'HereditaryPhotodermatosis'}, {'predicate': 'subClassOf', 'target': 'SyndromicRetinitisPigmentosa'}]"
} |
{
"aliases": null,
"definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.",
"id": "XerodermaPigmentosumGroupA",
"label": "xeroderma pigmentosum group A",
"logical_definition": null,
"original_id": "MONDO:0010210",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "XPA"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum group A Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'XPA'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.",
"id": "XerodermaPigmentosumGroupB",
"label": "xeroderma pigmentosum group B",
"logical_definition": null,
"original_id": "MONDO:0012531",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ERCC3"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosumCockayneSyndromeComplex"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum group B Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ERCC3'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosumCockayneSyndromeComplex'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": "An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.",
"id": "XerodermaPigmentosumGroupC",
"label": "xeroderma pigmentosum group C",
"logical_definition": null,
"original_id": "MONDO:0010211",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "XPC"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum group C An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'XPC'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.",
"id": "XerodermaPigmentosumGroupD",
"label": "xeroderma pigmentosum group D",
"logical_definition": null,
"original_id": "MONDO:0010212",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ERCC2"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosumCockayneSyndromeComplex"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum group D Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ERCC2'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosumCockayneSyndromeComplex'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": "An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.",
"id": "XerodermaPigmentosumGroupE",
"label": "xeroderma pigmentosum group E",
"logical_definition": null,
"original_id": "MONDO:0010213",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "DDB2"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum group E An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'DDB2'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.",
"id": "XerodermaPigmentosumGroupF",
"label": "xeroderma pigmentosum group F",
"logical_definition": null,
"original_id": "MONDO:0010215",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ERCC4"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosumCockayneSyndromeComplex"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum group F Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ERCC4'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosumCockayneSyndromeComplex'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.",
"id": "XerodermaPigmentosumGroupG",
"label": "xeroderma pigmentosum group G",
"logical_definition": null,
"original_id": "MONDO:0010216",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ERCC5"
},
{
"predicate": "subClassOf",
"target": "COFSSyndrome"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosumCockayneSyndromeComplex"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum group G Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ERCC5'}, {'predicate': 'subClassOf', 'target': 'COFSSyndrome'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosumCockayneSyndromeComplex'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.",
"id": "XerodermaPigmentosumVariantType",
"label": "xeroderma pigmentosum variant type",
"logical_definition": null,
"original_id": "MONDO:0010214",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "POLH"
},
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum variant type Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'POLH'}, {'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XerodermaPigmentosum_autosomalDominant_mild",
"label": "xeroderma pigmentosum, autosomal dominant, mild",
"logical_definition": null,
"original_id": "MONDO:0008690",
"relationships": [
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosum"
}
]
} | 0 | {
"document": "xeroderma pigmentosum, autosomal dominant, mild None [{'predicate': 'subClassOf', 'target': 'XerodermaPigmentosum'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XerodermaPigmentosum_typeFCockayneSyndrome",
"label": "xeroderma pigmentosum, type F/cockayne syndrome",
"logical_definition": null,
"original_id": "MONDO:0800313",
"relationships": [
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosumCockayneSyndromeComplex"
}
]
} | 0 | {
"document": "xeroderma pigmentosum, type F/cockayne syndrome None [{'predicate': 'subClassOf', 'target': 'XerodermaPigmentosumCockayneSyndromeComplex'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XerodermaPigmentosum_typeGCockayneSyndrome",
"label": "xeroderma pigmentosum, type G/cockayne syndrome",
"logical_definition": null,
"original_id": "MONDO:0800314",
"relationships": [
{
"predicate": "subClassOf",
"target": "XerodermaPigmentosumCockayneSyndromeComplex"
}
]
} | 0 | {
"document": "xeroderma pigmentosum, type G/cockayne syndrome None [{'predicate': 'subClassOf', 'target': 'XerodermaPigmentosumCockayneSyndromeComplex'}]"
} |
{
"aliases": null,
"definition": "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.",
"id": "Xerophthalmia",
"label": "xerophthalmia",
"logical_definition": null,
"original_id": "MONDO:0000948",
"relationships": [
{
"predicate": "subClassOf",
"target": "DryEyeSyndrome"
}
]
} | 0 | {
"document": "xerophthalmia Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. [{'predicate': 'subClassOf', 'target': 'DryEyeSyndrome'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xiphidiata",
"label": "Xiphidiata",
"logical_definition": null,
"original_id": "NCBITaxon:27872",
"relationships": [
{
"predicate": "subClassOf",
"target": "Plagiorchiida"
}
]
} | 0 | {
"document": "Xiphidiata None [{'predicate': 'subClassOf', 'target': 'Plagiorchiida'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp1123P1122_Human_",
"label": "Xp11.23-p11.22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp11.23-p11.22",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp11.23-p11.22 (Human) None [{'predicate': 'PartOf', 'target': 'Xp_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp113_Human_",
"label": "Xp11.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp11.3",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp11_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp11.3 (Human) None [{'predicate': 'PartOf', 'target': 'Xp11_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp11_Human_",
"label": "Xp11 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp11",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp1_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp11 (Human) None [{'predicate': 'PartOf', 'target': 'Xp1_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp1_Human_",
"label": "Xp1 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp1",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp1 (Human) None [{'predicate': 'PartOf', 'target': 'Xp_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp21_Human_",
"label": "Xp21 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp21",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp21 (Human) None [{'predicate': 'PartOf', 'target': 'Xp2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp2213P222_Human_",
"label": "Xp22.13-p22.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp22.13-p22.2",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp22.13-p22.2 (Human) None [{'predicate': 'PartOf', 'target': 'Xp_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp2213p222DuplicationSyndrome",
"label": "Xp22.13p22.2 duplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0017284",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xp2213P222_Human_"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheShortArmOfChromosomeX"
}
]
} | 0 | {
"document": "Xp22.13p22.2 duplication syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': 'Xp2213P222_Human_'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheShortArmOfChromosomeX'}]"
} |
{
"aliases": null,
"definition": "Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.",
"id": "Xp223MicrodeletionSyndrome",
"label": "Xp22.3 microdeletion syndrome",
"logical_definition": null,
"original_id": "MONDO:0015606",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xp223_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialMonosomyOfTheShortArmOfChromosomeX"
}
]
} | 0 | {
"document": "Xp22.3 microdeletion syndrome Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. [{'predicate': 'DiseaseArisesFromStructure', 'target': 'Xp223_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialMonosomyOfTheShortArmOfChromosomeX'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp223_Human_",
"label": "Xp22.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp22.3",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp22_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp22.3 (Human) None [{'predicate': 'PartOf', 'target': 'Xp22_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp22_Human_",
"label": "Xp22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp22",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp22 (Human) None [{'predicate': 'PartOf', 'target': 'Xp2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp2_Human_",
"label": "Xp2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp2",
"relationships": [
{
"predicate": "PartOf",
"target": "Xp_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp2 (Human) None [{'predicate': 'PartOf', 'target': 'Xp_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xp_Human_",
"label": "Xp (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXp",
"relationships": [
{
"predicate": "PartOf",
"target": "ChromosomeX_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xp (Human) None [{'predicate': 'PartOf', 'target': 'ChromosomeX_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.",
"id": "Xq12Q133DuplicationSyndrome",
"label": "Xq12-q13.3 duplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0017794",
"relationships": [
{
"predicate": "DiseaseHasFeature",
"target": "Autism"
},
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xq12Q133_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheLongArmOfChromosomeX"
}
]
} | 0 | {
"document": "Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. [{'predicate': 'DiseaseHasFeature', 'target': 'Autism'}, {'predicate': 'DiseaseArisesFromStructure', 'target': 'Xq12Q133_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosomeX'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq12Q133_Human_",
"label": "Xq12-q13.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq12-q13.3",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq12-q13.3 (Human) None [{'predicate': 'PartOf', 'target': 'Xq_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq223_Human_",
"label": "Xq22.3 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq22.3",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq22_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq22.3 (Human) None [{'predicate': 'PartOf', 'target': 'Xq22_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq22_Human_",
"label": "Xq22 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq22",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq22 (Human) None [{'predicate': 'PartOf', 'target': 'Xq2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq25MicroduplicationSyndrome",
"label": "Xq25 microduplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0010507",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xq25_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheLongArmOfChromosomeX"
}
]
} | 0 | {
"document": "Xq25 microduplication syndrome None [{'predicate': 'DiseaseArisesFromStructure', 'target': 'Xq25_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosomeX'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq25_Human_",
"label": "Xq25 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq25",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq25 (Human) None [{'predicate': 'PartOf', 'target': 'Xq2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq26_Human_",
"label": "Xq26 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq26",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq26 (Human) None [{'predicate': 'PartOf', 'target': 'Xq2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq272_Human_",
"label": "Xq27.2 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq27.2",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq27_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq27.2 (Human) None [{'predicate': 'PartOf', 'target': 'Xq27_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq273Q28_Human_",
"label": "Xq27.3-q28 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq27.3-q28",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq27.3-q28 (Human) None [{'predicate': 'PartOf', 'target': 'Xq_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": "Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.",
"id": "Xq273q28DuplicationSyndrome",
"label": "Xq27.3q28 duplication syndrome",
"logical_definition": null,
"original_id": "MONDO:0010467",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xq273Q28_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDuplicationOfTheLongArmOfChromosomeX"
}
]
} | 0 | {
"document": "Xq27.3q28 duplication syndrome Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. [{'predicate': 'DiseaseArisesFromStructure', 'target': 'Xq273Q28_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDuplicationOfTheLongArmOfChromosomeX'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq27_Human_",
"label": "Xq27 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq27",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq27 (Human) None [{'predicate': 'PartOf', 'target': 'Xq2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Xq28_Human_",
"label": "Xq28 (Human)",
"logical_definition": null,
"original_id": "CHR:9606-chrXq28",
"relationships": [
{
"predicate": "PartOf",
"target": "Xq2_Human_"
},
{
"predicate": "InTaxon",
"target": "HomoSapiens"
},
{
"predicate": "subClassOf",
"target": "ChromosomalRegion"
}
]
} | 0 | {
"document": "Xq28 (Human) None [{'predicate': 'PartOf', 'target': 'Xq2_Human_'}, {'predicate': 'InTaxon', 'target': 'HomoSapiens'}, {'predicate': 'subClassOf', 'target': 'ChromosomalRegion'}]"
} |