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{
"aliases": null,
"definition": "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.",
"id": "XLinkedChondrodysplasiaPunctata1",
"label": "X-linked chondrodysplasia punctata 1",
"logical_definition": null,
"original_id": "MONDO:0010555",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ARSL"
},
{
"predicate": "subClassOf",
"target": "XLinkedChondrodysplasiaPunctata"
}
]
} | 0 | {
"document": "X-linked chondrodysplasia punctata 1 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ARSL'}, {'predicate': 'subClassOf', 'target': 'XLinkedChondrodysplasiaPunctata'}]"
} |
{
"aliases": null,
"definition": "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.",
"id": "XLinkedChondrodysplasiaPunctata2",
"label": "X-linked chondrodysplasia punctata 2",
"logical_definition": null,
"original_id": "MONDO:0020603",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "EBP"
},
{
"predicate": "subClassOf",
"target": "NonRhizomelicChondrodysplasiaPunctata"
},
{
"predicate": "subClassOf",
"target": "SyndromicDyslipidemia"
},
{
"predicate": "subClassOf",
"target": "InheritedIchthyosisSyndromicForm"
},
{
"predicate": "subClassOf",
"target": "SterolBiosynthesisDisorder"
}
]
} | 0 | {
"document": "X-linked chondrodysplasia punctata 2 A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'EBP'}, {'predicate': 'subClassOf', 'target': 'NonRhizomelicChondrodysplasiaPunctata'}, {'predicate': 'subClassOf', 'target': 'SyndromicDyslipidemia'}, {'predicate': 'subClassOf', 'target': 'InheritedIchthyosisSyndromicForm'}, {'predicate': 'subClassOf', 'target': 'SterolBiosynthesisDisorder'}]"
} |
{
"aliases": null,
"definition": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.",
"id": "XLinkedColobomatousMicrophthalmiaMicrocephalyIntellectualDisabilityShortStatureSyndrome",
"label": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome",
"logical_definition": null,
"original_id": "MONDO:0010485",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "HMGB3"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "SyndromicMicrophthalmia"
}
]
} | 0 | {
"document": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HMGB3'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'SyndromicMicrophthalmia'}]"
} |
{
"aliases": null,
"definition": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.",
"id": "XLinkedComplexNeurodevelopmentalDisorder",
"label": "X-linked complex neurodevelopmental disorder",
"logical_definition": null,
"original_id": "MONDO:0100148",
"relationships": [
{
"predicate": "DiseaseHasFeature",
"target": "AutisticBehavior"
},
{
"predicate": "DiseaseHasFeature",
"target": "IntellectualDisability"
},
{
"predicate": "DiseaseHasFeature",
"target": "Seizure"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "ComplexNeurodevelopmentalDisorder"
},
{
"predicate": "subClassOf",
"target": "MendelianNeurodevelopmentalDisorder"
}
]
} | 0 | {
"document": "X-linked complex neurodevelopmental disorder A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy. [{'predicate': 'DiseaseHasFeature', 'target': 'AutisticBehavior'}, {'predicate': 'DiseaseHasFeature', 'target': 'IntellectualDisability'}, {'predicate': 'DiseaseHasFeature', 'target': 'Seizure'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'ComplexNeurodevelopmentalDisorder'}, {'predicate': 'subClassOf', 'target': 'MendelianNeurodevelopmentalDisorder'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedComplexSpasticParaplegia",
"label": "X-linked complex spastic paraplegia",
"logical_definition": null,
"original_id": "MONDO:0020339",
"relationships": [
{
"predicate": "subClassOf",
"target": "ComplexHereditarySpasticParaplegia"
}
]
} | 0 | {
"document": "X-linked complex spastic paraplegia None [{'predicate': 'subClassOf', 'target': 'ComplexHereditarySpasticParaplegia'}]"
} |
{
"aliases": null,
"definition": "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.",
"id": "XLinkedComplicatedCorpusCallosumDysgenesis",
"label": "X-linked complicated corpus callosum dysgenesis",
"logical_definition": null,
"original_id": "MONDO:0010569",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "L1CAM"
},
{
"predicate": "subClassOf",
"target": "L1Syndrome"
}
]
} | 0 | {
"document": "X-linked complicated corpus callosum dysgenesis X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'L1CAM'}, {'predicate': 'subClassOf', 'target': 'L1Syndrome'}]"
} |
{
"aliases": null,
"definition": "An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.",
"id": "XLinkedComplicatedSpasticParaplegiaType1",
"label": "X-linked complicated spastic paraplegia type 1",
"logical_definition": null,
"original_id": "MONDO:0017630",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "L1CAM"
},
{
"predicate": "subClassOf",
"target": "L1Syndrome"
},
{
"predicate": "subClassOf",
"target": "XLinkedRecessiveDisease"
}
]
} | 0 | {
"document": "X-linked complicated spastic paraplegia type 1 An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'L1CAM'}, {'predicate': 'subClassOf', 'target': 'L1Syndrome'}, {'predicate': 'subClassOf', 'target': 'XLinkedRecessiveDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.",
"id": "XLinkedConeDysfunctionSyndromeWithMyopia",
"label": "X-linked cone dysfunction syndrome with myopia",
"logical_definition": null,
"original_id": "MONDO:0010446",
"relationships": [
{
"predicate": "subClassOf",
"target": "EyeDisorder"
}
]
} | 0 | {
"document": "X-linked cone dysfunction syndrome with myopia X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. [{'predicate': 'subClassOf', 'target': 'EyeDisorder'}]"
} |
{
"aliases": null,
"definition": "X-linked form of cone-rod dystrophy.",
"id": "XLinkedConeRodDystrophy",
"label": "X-linked cone-rod dystrophy",
"logical_definition": null,
"original_id": "MONDO:0021155",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "ConeRodDystrophy"
}
]
} | 0 | {
"document": "X-linked cone-rod dystrophy X-linked form of cone-rod dystrophy. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'ConeRodDystrophy'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedConeRodDystrophy1",
"label": "X-linked cone-rod dystrophy 1",
"logical_definition": null,
"original_id": "MONDO:0010566",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedConeRodDystrophy"
},
{
"predicate": "subClassOf",
"target": "RPGRRelatedRetinopathy"
}
]
} | 0 | {
"document": "X-linked cone-rod dystrophy 1 None [{'predicate': 'subClassOf', 'target': 'XLinkedConeRodDystrophy'}, {'predicate': 'subClassOf', 'target': 'RPGRRelatedRetinopathy'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedConeRodDystrophy2",
"label": "X-linked cone-rod dystrophy 2",
"logical_definition": null,
"original_id": "MONDO:0010245",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedConeRodDystrophy"
}
]
} | 0 | {
"document": "X-linked cone-rod dystrophy 2 None [{'predicate': 'subClassOf', 'target': 'XLinkedConeRodDystrophy'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedConeRodDystrophy3",
"label": "X-linked cone-rod dystrophy 3",
"logical_definition": null,
"original_id": "MONDO:0010335",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CACNA1F"
},
{
"predicate": "subClassOf",
"target": "XLinkedConeRodDystrophy"
}
]
} | 0 | {
"document": "X-linked cone-rod dystrophy 3 None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CACNA1F'}, {'predicate': 'subClassOf', 'target': 'XLinkedConeRodDystrophy'}]"
} |
{
"aliases": null,
"definition": "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.",
"id": "XLinkedCongenitalGeneralizedHypertrichosis",
"label": "X-linked congenital generalized hypertrichosis",
"logical_definition": null,
"original_id": "MONDO:0010614",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "Congenital"
},
{
"predicate": "subClassOf",
"target": "HypertrichosisLanuginosaCongenita"
}
]
} | 0 | {
"document": "X-linked congenital generalized hypertrichosis X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. [{'predicate': 'HasCharacteristic', 'target': 'Congenital'}, {'predicate': 'subClassOf', 'target': 'HypertrichosisLanuginosaCongenita'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedCongenitalHemolyticAnemia",
"label": "X-linked congenital hemolytic anemia",
"logical_definition": null,
"original_id": "MONDO:0060455",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "FamilialHemolyticAnemia"
}
]
} | 0 | {
"document": "X-linked congenital hemolytic anemia None [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'FamilialHemolyticAnemia'}]"
} |
{
"aliases": null,
"definition": "X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.",
"id": "XLinkedCongenitalStationaryNightBlindness",
"label": "X-linked congenital stationary night blindness",
"logical_definition": null,
"original_id": "MONDO:0044749",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "CongenitalStationaryNightBlindness"
}
]
} | 0 | {
"document": "X-linked congenital stationary night blindness X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'CongenitalStationaryNightBlindness'}]"
} |
{
"aliases": null,
"definition": "X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.",
"id": "XLinkedCornealDermoid",
"label": "X-linked corneal dermoid",
"logical_definition": null,
"original_id": "MONDO:0010579",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicCornealDystrophy"
}
]
} | 0 | {
"document": "X-linked corneal dermoid X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. [{'predicate': 'subClassOf', 'target': 'SyndromicCornealDystrophy'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedDeafness",
"label": "X-linked deafness",
"logical_definition": null,
"original_id": "MONDO:0020768",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "HearingLossDisorder"
},
{
"predicate": "subClassOf",
"target": "InheritedAuditorySystemDisease"
}
]
} | 0 | {
"document": "X-linked deafness None [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'HearingLossDisorder'}, {'predicate': 'subClassOf', 'target': 'InheritedAuditorySystemDisease'}]"
} |
{
"aliases": null,
"definition": "The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.",
"id": "XLinkedDiffuseLeiomyomatosisAlportSyndrome",
"label": "X-linked diffuse leiomyomatosis-Alport syndrome",
"logical_definition": null,
"original_id": "MONDO:0010641",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xq223_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosomeX"
},
{
"predicate": "subClassOf",
"target": "DiseaseOfGlomerularBasementMembrane"
}
]
} | 0 | {
"document": "X-linked diffuse leiomyomatosis-Alport syndrome The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. [{'predicate': 'DiseaseArisesFromStructure', 'target': 'Xq223_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosomeX'}, {'predicate': 'subClassOf', 'target': 'DiseaseOfGlomerularBasementMembrane'}]"
} |
{
"aliases": null,
"definition": "X-linked form of disease.",
"id": "XLinkedDisease",
"label": "X-linked disease",
"logical_definition": null,
"original_id": "MONDO:0000425",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "XLinkedInheritance"
},
{
"predicate": "subClassOf",
"target": "HereditaryDisease"
}
]
} | 0 | {
"document": "X-linked disease X-linked form of disease. [{'predicate': 'HasCharacteristic', 'target': 'XLinkedInheritance'}, {'predicate': 'subClassOf', 'target': 'HereditaryDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked form of distal hereditary motor neuropathy.",
"id": "XLinkedDistalHereditaryMotorNeuropathy",
"label": "X-linked distal hereditary motor neuropathy",
"logical_definition": null,
"original_id": "MONDO:0018451",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "DistalHereditaryMotorNeuropathy"
}
]
} | 0 | {
"document": "X-linked distal hereditary motor neuropathy X-linked form of distal hereditary motor neuropathy. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'DistalHereditaryMotorNeuropathy'}]"
} |
{
"aliases": null,
"definition": "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.",
"id": "XLinkedDistalSpinalMuscularAtrophyType3",
"label": "X-linked distal spinal muscular atrophy type 3",
"logical_definition": null,
"original_id": "MONDO:0010338",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ATP7A"
},
{
"predicate": "subClassOf",
"target": "SpinalMuscularAtrophy"
},
{
"predicate": "subClassOf",
"target": "XLinkedDistalHereditaryMotorNeuropathy"
}
]
} | 0 | {
"document": "X-linked distal spinal muscular atrophy type 3 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ATP7A'}, {'predicate': 'subClassOf', 'target': 'SpinalMuscularAtrophy'}, {'predicate': 'subClassOf', 'target': 'XLinkedDistalHereditaryMotorNeuropathy'}]"
} |
{
"aliases": null,
"definition": "A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.",
"id": "XLinkedDominantChondrodysplasia_ChassaingLacombeType",
"label": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type",
"logical_definition": null,
"original_id": "MONDO:0010463",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "HDAC6"
},
{
"predicate": "subClassOf",
"target": "SyndromicDisease"
}
]
} | 0 | {
"document": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'HDAC6'}, {'predicate': 'subClassOf', 'target': 'SyndromicDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked dominant form of disease.",
"id": "XLinkedDominantDisease",
"label": "X-linked dominant disease",
"logical_definition": null,
"original_id": "MONDO:0020604",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "XLinkedDominantInheritance"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
}
]
} | 0 | {
"document": "X-linked dominant disease X-linked dominant form of disease. [{'predicate': 'HasCharacteristic', 'target': 'XLinkedDominantInheritance'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.",
"id": "XLinkedDominantHypophosphatemicRickets",
"label": "X-linked dominant hypophosphatemic rickets",
"logical_definition": null,
"original_id": "MONDO:0010619",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "PHEX"
},
{
"predicate": "subClassOf",
"target": "XLinkedDominantDisease"
},
{
"predicate": "subClassOf",
"target": "XLinkedHypophosphatemicRickets"
},
{
"predicate": "subClassOf",
"target": "AbnormalMineralizationDisorder"
}
]
} | 0 | {
"document": "X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'PHEX'}, {'predicate': 'subClassOf', 'target': 'XLinkedDominantDisease'}, {'predicate': 'subClassOf', 'target': 'XLinkedHypophosphatemicRickets'}, {'predicate': 'subClassOf', 'target': 'AbnormalMineralizationDisorder'}]"
} |
{
"aliases": null,
"definition": "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.",
"id": "XLinkedDominantInheritance",
"label": "X-linked dominant inheritance",
"logical_definition": null,
"original_id": "HP:0001423",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedInheritance"
}
]
} | 0 | {
"document": "X-linked dominant inheritance A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [{'predicate': 'subClassOf', 'target': 'XLinkedInheritance'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedDominantIntellectualDisabilityEpilepsySyndrome",
"label": "X-linked dominant intellectual disability-epilepsy syndrome",
"logical_definition": null,
"original_id": "MONDO:0019770",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedIntellectualDisabilityEpilepsySyndrome"
}
]
} | 0 | {
"document": "X-linked dominant intellectual disability-epilepsy syndrome None [{'predicate': 'subClassOf', 'target': 'XLinkedIntellectualDisabilityEpilepsySyndrome'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedDyserythropoeticAnemiaWithAbnormalPlateletsAndNeutropenia",
"label": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia",
"logical_definition": null,
"original_id": "MONDO:0010444",
"relationships": [
{
"predicate": "subClassOf",
"target": "IsolatedHereditaryGiantPlateletDisorder"
},
{
"predicate": "subClassOf",
"target": "CongenitalDyserythropoieticAnemia"
},
{
"predicate": "subClassOf",
"target": "GATA1RelatedXLinkedCytopenia"
}
]
} | 0 | {
"document": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia None [{'predicate': 'subClassOf', 'target': 'IsolatedHereditaryGiantPlateletDisorder'}, {'predicate': 'subClassOf', 'target': 'CongenitalDyserythropoieticAnemia'}, {'predicate': 'subClassOf', 'target': 'GATA1RelatedXLinkedCytopenia'}]"
} |
{
"aliases": null,
"definition": "X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.",
"id": "XLinkedDystoniaParkinsonism",
"label": "X-linked dystonia-parkinsonism",
"logical_definition": null,
"original_id": "MONDO:0010747",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "TAF1"
},
{
"predicate": "subClassOf",
"target": "FocalDystonia"
},
{
"predicate": "subClassOf",
"target": "PersistentCombinedDystonia"
},
{
"predicate": "subClassOf",
"target": "ParkinsonianDisorder"
}
]
} | 0 | {
"document": "X-linked dystonia-parkinsonism X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'TAF1'}, {'predicate': 'subClassOf', 'target': 'FocalDystonia'}, {'predicate': 'subClassOf', 'target': 'PersistentCombinedDystonia'}, {'predicate': 'subClassOf', 'target': 'ParkinsonianDisorder'}]"
} |
{
"aliases": null,
"definition": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.",
"id": "XLinkedEhlersDanlosSyndrome",
"label": "X-linked Ehlers-Danlos syndrome",
"logical_definition": null,
"original_id": "MONDO:0010586",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "EhlersDanlosSyndrome"
}
]
} | 0 | {
"document": "X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'EhlersDanlosSyndrome'}]"
} |
{
"aliases": null,
"definition": "X-linked form of Emery-Dreifuss muscular dystrophy.",
"id": "XLinkedEmeryDreifussMuscularDystrophy",
"label": "X-linked Emery-Dreifuss muscular dystrophy",
"logical_definition": null,
"original_id": "MONDO:0010680",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "EMD"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "QualitativeOrQuantitativeDefectsOfEmerin"
},
{
"predicate": "subClassOf",
"target": "EmeryDreifussMuscularDystrophy"
},
{
"predicate": "subClassOf",
"target": "Laminopathy"
}
]
} | 0 | {
"document": "X-linked Emery-Dreifuss muscular dystrophy X-linked form of Emery-Dreifuss muscular dystrophy. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'EMD'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'QualitativeOrQuantitativeDefectsOfEmerin'}, {'predicate': 'subClassOf', 'target': 'EmeryDreifussMuscularDystrophy'}, {'predicate': 'subClassOf', 'target': 'Laminopathy'}]"
} |
{
"aliases": null,
"definition": "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.",
"id": "XLinkedEndothelialCornealDystrophy",
"label": "X-linked endothelial corneal dystrophy",
"logical_definition": null,
"original_id": "MONDO:0010426",
"relationships": [
{
"predicate": "subClassOf",
"target": "CornealEndothelialDystrophy"
},
{
"predicate": "subClassOf",
"target": "PosteriorCornealDystrophy"
}
]
} | 0 | {
"document": "X-linked endothelial corneal dystrophy X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. [{'predicate': 'subClassOf', 'target': 'CornealEndothelialDystrophy'}, {'predicate': 'subClassOf', 'target': 'PosteriorCornealDystrophy'}]"
} |
{
"aliases": null,
"definition": "X-linked form of erythropoietic protoporphyria.",
"id": "XLinkedErythropoieticProtoporphyria",
"label": "X-linked erythropoietic protoporphyria",
"logical_definition": null,
"original_id": "MONDO:0010420",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ALAS2"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "ErythropoieticProtoporphyria"
}
]
} | 0 | {
"document": "X-linked erythropoietic protoporphyria X-linked form of erythropoietic protoporphyria. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ALAS2'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'ErythropoieticProtoporphyria'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedExternalAuditoryCanalAtresiaDilatedInternalAuditoryCanalFacialDysmorphismSyndrome",
"label": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome",
"logical_definition": null,
"original_id": "MONDO:0044702",
"relationships": [
{
"predicate": "subClassOf",
"target": "HereditaryOtorhinolaryngologicalMalformation"
},
{
"predicate": "subClassOf",
"target": "DevelopmentalDefectDuringEmbryogenesis"
},
{
"predicate": "subClassOf",
"target": "XLinkedDeafness"
}
]
} | 0 | {
"document": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome None [{'predicate': 'subClassOf', 'target': 'HereditaryOtorhinolaryngologicalMalformation'}, {'predicate': 'subClassOf', 'target': 'DevelopmentalDefectDuringEmbryogenesis'}, {'predicate': 'subClassOf', 'target': 'XLinkedDeafness'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedFemaleRestrictedFacialDysmorphismShortStatureChoanalAtresiaIntellectualDisability",
"label": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability",
"logical_definition": null,
"original_id": "MONDO:0018821",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicDisease"
}
]
} | 0 | {
"document": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability None [{'predicate': 'subClassOf', 'target': 'SyndromicDisease'}]"
} |
{
"aliases": null,
"definition": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.",
"id": "XLinkedHereditarySensoryAndAutonomicNeuropathyWithHearingLoss",
"label": "X-linked hereditary sensory and autonomic neuropathy with hearing loss",
"logical_definition": null,
"original_id": "MONDO:0010378",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "AIFM1"
},
{
"predicate": "subClassOf",
"target": "HereditarySensoryAndAutonomicNeuropathy"
},
{
"predicate": "subClassOf",
"target": "XLinkedNonsyndromicHearingLoss"
},
{
"predicate": "subClassOf",
"target": "AuditoryNeuropathy"
}
]
} | 0 | {
"document": "X-linked hereditary sensory and autonomic neuropathy with hearing loss This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'AIFM1'}, {'predicate': 'subClassOf', 'target': 'HereditarySensoryAndAutonomicNeuropathy'}, {'predicate': 'subClassOf', 'target': 'XLinkedNonsyndromicHearingLoss'}, {'predicate': 'subClassOf', 'target': 'AuditoryNeuropathy'}]"
} |
{
"aliases": null,
"definition": "A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.",
"id": "XLinkedHydrocephalusWithStenosisOfTheAqueductOfSylvius",
"label": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius",
"logical_definition": null,
"original_id": "MONDO:0010611",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "L1CAM"
},
{
"predicate": "DiseaseHasBasisInFeature",
"target": "AqueductalStenosis"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "CongenitalHydrocephalus"
},
{
"predicate": "subClassOf",
"target": "L1Syndrome"
}
]
} | 0 | {
"document": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'L1CAM'}, {'predicate': 'DiseaseHasBasisInFeature', 'target': 'AqueductalStenosis'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'CongenitalHydrocephalus'}, {'predicate': 'subClassOf', 'target': 'L1Syndrome'}]"
} |
{
"aliases": null,
"definition": "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.",
"id": "XLinkedHypohidroticEctodermalDysplasia",
"label": "X-linked hypohidrotic ectodermal dysplasia",
"logical_definition": null,
"original_id": "MONDO:0010585",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "EDA"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "HypohidroticEctodermalDysplasia"
}
]
} | 0 | {
"document": "X-linked hypohidrotic ectodermal dysplasia An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'EDA'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'HypohidroticEctodermalDysplasia'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedHypophosphatemicRickets",
"label": "X-linked hypophosphatemic rickets",
"logical_definition": null,
"original_id": "MONDO:0020720",
"relationships": [
{
"predicate": "subClassOf",
"target": "HereditaryHypophosphatemicRickets"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
}
]
} | 0 | {
"document": "X-linked hypophosphatemic rickets None [{'predicate': 'subClassOf', 'target': 'HereditaryHypophosphatemicRickets'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked form of inherited ichthyosis syndromic form.",
"id": "XLinkedIchthyosisSyndrome",
"label": "X-linked ichthyosis syndrome",
"logical_definition": null,
"original_id": "MONDO:0017269",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "InheritedIchthyosisSyndromicForm"
}
]
} | 0 | {
"document": "X-linked ichthyosis syndrome X-linked form of inherited ichthyosis syndromic form. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'InheritedIchthyosisSyndromicForm'}]"
} |
{
"aliases": null,
"definition": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.",
"id": "XLinkedImmunodeficiencyWithMagnesiumDefect_EpsteinBarrVirusInfectionAndNeoplasia",
"label": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",
"logical_definition": null,
"original_id": "MONDO:0010455",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MAGT1"
},
{
"predicate": "subClassOf",
"target": "CombinedImmunodeficiency_MONDO:0015131"
}
]
} | 0 | {
"document": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MAGT1'}, {'predicate': 'subClassOf', 'target': 'CombinedImmunodeficiency_MONDO:0015131'}]"
} |
{
"aliases": null,
"definition": "X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.",
"id": "XLinkedImmunoneurologicDisorder",
"label": "X-linked immunoneurologic disorder",
"logical_definition": null,
"original_id": "MONDO:0010243",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "ImmunodeficiencyPredominantlyAffectingAntibodyProduction"
}
]
} | 0 | {
"document": "X-linked immunoneurologic disorder X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'ImmunodeficiencyPredominantlyAffectingAntibodyProduction'}]"
} |
{
"aliases": null,
"definition": "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.",
"id": "XLinkedInheritance",
"label": "X-linked inheritance",
"logical_definition": null,
"original_id": "HP:0001417",
"relationships": [
{
"predicate": "subClassOf",
"target": "MendelianInheritance"
}
]
} | 0 | {
"document": "X-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [{'predicate': 'subClassOf', 'target': 'MendelianInheritance'}]"
} |
{
"aliases": null,
"definition": "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations.",
"id": "XLinkedIntellectualDisability",
"label": "X-linked intellectual disability",
"logical_definition": null,
"original_id": "MONDO:0100284",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "IntellectualDisability_MONDO:0001071"
}
]
} | 0 | {
"document": "X-linked intellectual disability An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'IntellectualDisability_MONDO:0001071'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.",
"id": "XLinkedIntellectualDisabilityAcromegalyHyperactivitySyndrome",
"label": "X-linked intellectual disability-acromegaly-hyperactivity syndrome",
"logical_definition": null,
"original_id": "MONDO:0019424",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.",
"id": "XLinkedIntellectualDisabilityAtaxiaApraxiaSyndrome",
"label": "X-linked intellectual disability-ataxia-apraxia syndrome",
"logical_definition": null,
"original_id": "MONDO:0019430",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedCerebellarAtaxia"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. [{'predicate': 'subClassOf', 'target': 'XLinkedCerebellarAtaxia'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.",
"id": "XLinkedIntellectualDisabilityCardiomegalyCongestiveHeartFailureSyndrome",
"label": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome",
"logical_definition": null,
"original_id": "MONDO:0010473",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CLIC2"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CLIC2'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilityCerebellarHypoplasiaSpondyloEpiphysealDysplasiaSyndrome",
"label": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome",
"logical_definition": null,
"original_id": "MONDO:0018724",
"relationships": [
{
"predicate": "DiseaseHasMajorFeature",
"target": "CentralNervousSystemMalformation"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "SpondyloepiphysealDysplasia"
},
{
"predicate": "subClassOf",
"target": "CentralNervousSystemMalformation"
}
]
} | 0 | {
"document": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome None [{'predicate': 'DiseaseHasMajorFeature', 'target': 'CentralNervousSystemMalformation'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'SpondyloepiphysealDysplasia'}, {'predicate': 'subClassOf', 'target': 'CentralNervousSystemMalformation'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.",
"id": "XLinkedIntellectualDisabilityCerebellarHypoplasiaSyndrome",
"label": "X-linked intellectual disability-cerebellar hypoplasia syndrome",
"logical_definition": null,
"original_id": "MONDO:0010337",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "OPHN1"
},
{
"predicate": "DiseaseHasMajorFeature",
"target": "CentralNervousSystemMalformation"
},
{
"predicate": "subClassOf",
"target": "CentralNervousSystemMalformation"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'OPHN1'}, {'predicate': 'DiseaseHasMajorFeature', 'target': 'CentralNervousSystemMalformation'}, {'predicate': 'subClassOf', 'target': 'CentralNervousSystemMalformation'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.",
"id": "XLinkedIntellectualDisabilityCorpusCallosumAgenesisSpasticQuadriparesisSyndrome",
"label": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome",
"logical_definition": null,
"original_id": "MONDO:0019426",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "DisorderOfDevelopmentOrMorphogenesis"
}
]
} | 0 | {
"document": "X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'DisorderOfDevelopmentOrMorphogenesis'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.",
"id": "XLinkedIntellectualDisabilityCraniofacioskeletalSyndrome",
"label": "X-linked intellectual disability-craniofacioskeletal syndrome",
"logical_definition": null,
"original_id": "MONDO:0010412",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.",
"id": "XLinkedIntellectualDisabilityCubitusValgusDysmorphismSyndrome",
"label": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome",
"logical_definition": null,
"original_id": "MONDO:0010332",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilityDueToGRIA3Anomalies",
"label": "X-linked intellectual disability due to GRIA3 anomalies",
"logical_definition": null,
"original_id": "MONDO:0018222",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability due to GRIA3 anomalies None [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.",
"id": "XLinkedIntellectualDisabilityEpilepsyProgressiveJointContracturesDysmorphismSyndrome",
"label": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome",
"logical_definition": null,
"original_id": "MONDO:0019418",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilityEpilepsySyndrome",
"label": "X-linked intellectual disability-epilepsy syndrome",
"logical_definition": null,
"original_id": "MONDO:0016160",
"relationships": [
{
"predicate": "subClassOf",
"target": "MonogenicEpilepsy"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-epilepsy syndrome None [{'predicate': 'subClassOf', 'target': 'MonogenicEpilepsy'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilityGlobalDevelopmentDelayFacialDysmorphismSacralCaudalRemnantSyndrome",
"label": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome",
"logical_definition": null,
"original_id": "MONDO:0018823",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome None [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.",
"id": "XLinkedIntellectualDisabilityHypogammaglobulinemiaProgressiveNeurologicalDeteriorationSyndrome",
"label": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome",
"logical_definition": null,
"original_id": "MONDO:0019416",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.",
"id": "XLinkedIntellectualDisabilityHypogonadismIchthyosisObesityShortStatureSyndrome",
"label": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome",
"logical_definition": null,
"original_id": "MONDO:0017614",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedIchthyosisSyndrome"
},
{
"predicate": "subClassOf",
"target": "AutosomalIchthyosisSyndrome"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedIchthyosisSyndrome'}, {'predicate': 'subClassOf', 'target': 'AutosomalIchthyosisSyndrome'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilityHypotoniaMovementDisorderSyndrome",
"label": "X-linked intellectual disability-hypotonia-movement disorder syndrome",
"logical_definition": null,
"original_id": "MONDO:0018709",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-hypotonia-movement disorder syndrome None [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.",
"id": "XLinkedIntellectualDisabilityLimbSpasticityRetinalDystrophyDiabetesInsipidusSyndrome",
"label": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome",
"logical_definition": null,
"original_id": "MONDO:0018495",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritedRetinalDystrophy"
},
{
"predicate": "subClassOf",
"target": "InbornDisorderOfPurineMetabolism"
}
]
} | 0 | {
"document": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. [{'predicate': 'subClassOf', 'target': 'InheritedRetinalDystrophy'}, {'predicate': 'subClassOf', 'target': 'InbornDisorderOfPurineMetabolism'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome.",
"id": "XLinkedIntellectualDisabilityMacrocephalyMacroorchidismSyndrome",
"label": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome",
"logical_definition": null,
"original_id": "MONDO:0019419",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.",
"id": "XLinkedIntellectualDisabilityPlagiocephalySyndrome",
"label": "X-linked intellectual disability-plagiocephaly syndrome",
"logical_definition": null,
"original_id": "MONDO:0010237",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "SyndromicCraniosynostosis"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'SyndromicCraniosynostosis'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.",
"id": "XLinkedIntellectualDisabilityPrecociousPubertyObesitySyndrome",
"label": "X-linked intellectual disability-precocious puberty-obesity syndrome",
"logical_definition": null,
"original_id": "MONDO:0019417",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-precocious puberty-obesity syndrome X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilityPsychosisMacroorchidismSyndrome",
"label": "X-linked intellectual disability-psychosis-macroorchidism syndrome",
"logical_definition": null,
"original_id": "MONDO:0010235",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "MECP2"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-psychosis-macroorchidism syndrome None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'MECP2'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.",
"id": "XLinkedIntellectualDisabilityRetinitisPigmentosaSyndrome",
"label": "X-linked intellectual disability-retinitis pigmentosa syndrome",
"logical_definition": null,
"original_id": "MONDO:0010364",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xp113_Human_"
},
{
"predicate": "subClassOf",
"target": "PartialMonosomyOfTheShortArmOfChromosomeX"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. [{'predicate': 'DiseaseArisesFromStructure', 'target': 'Xp113_Human_'}, {'predicate': 'subClassOf', 'target': 'PartialMonosomyOfTheShortArmOfChromosomeX'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.",
"id": "XLinkedIntellectualDisabilitySeizuresPsoriasisSyndrome",
"label": "X-linked intellectual disability-seizures-psoriasis syndrome",
"logical_definition": null,
"original_id": "MONDO:0010652",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.",
"id": "XLinkedIntellectualDisabilityShortStatureOverweightSyndrome",
"label": "X-linked intellectual disability-short stature-overweight syndrome",
"logical_definition": null,
"original_id": "MONDO:0010496",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "THOC2"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'THOC2'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilitySpasticQuadriparesisSyndrome",
"label": "X-linked intellectual disability-spastic quadriparesis syndrome",
"logical_definition": null,
"original_id": "MONDO:0010670",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability-spastic quadriparesis syndrome None [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.",
"id": "XLinkedIntellectualDisabilityWithHypopituitarism",
"label": "X-linked intellectual disability with hypopituitarism",
"logical_definition": null,
"original_id": "MONDO:0100195",
"relationships": [
{
"predicate": "DiseaseHasMajorFeature",
"target": "Hypopituitarism_MONDO:0005152"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability with hypopituitarism An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. [{'predicate': 'DiseaseHasMajorFeature', 'target': 'Hypopituitarism_MONDO:0005152'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisabilityWithIsolatedGrowthHormoneDeficiency",
"label": "X-linked intellectual disability with isolated growth hormone deficiency",
"logical_definition": null,
"original_id": "MONDO:0019032",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability with isolated growth hormone deficiency None [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.",
"id": "XLinkedIntellectualDisabilityWithMarfanoidHabitus",
"label": "X-linked intellectual disability with marfanoid habitus",
"logical_definition": null,
"original_id": "MONDO:0010655",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "MED12RelatedIntellectualDisabilitySyndrome"
}
]
} | 0 | {
"document": "X-linked intellectual disability with marfanoid habitus The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'MED12RelatedIntellectualDisabilitySyndrome'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.",
"id": "XLinkedIntellectualDisability_CabezasType",
"label": "X-linked intellectual disability, Cabezas type",
"logical_definition": null,
"original_id": "MONDO:0010306",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CUL4B"
},
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CUL4B'}, {'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.",
"id": "XLinkedIntellectualDisability_CantagrelType",
"label": "X-linked intellectual disability, Cantagrel type",
"logical_definition": null,
"original_id": "MONDO:0010483",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "NEXMIF"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Cantagrel type X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'NEXMIF'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).",
"id": "XLinkedIntellectualDisability_CilliersType",
"label": "X-linked intellectual disability, Cilliers type",
"logical_definition": null,
"original_id": "MONDO:0015600",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Cilliers type X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.",
"id": "XLinkedIntellectualDisability_GolabiItoHallType",
"label": "X-linked intellectual disability, Golabi-Ito-hall type",
"logical_definition": null,
"original_id": "MONDO:0019768",
"relationships": [
{
"predicate": "subClassOf",
"target": "RenpenningSyndrome"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Golabi-Ito-hall type Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. [{'predicate': 'subClassOf', 'target': 'RenpenningSyndrome'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.",
"id": "XLinkedIntellectualDisability_PaiType",
"label": "X-linked intellectual disability, Pai type",
"logical_definition": null,
"original_id": "MONDO:0019420",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Pai type X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisability_PorteousType",
"label": "X-linked intellectual disability, Porteous type",
"logical_definition": null,
"original_id": "MONDO:0019766",
"relationships": [
{
"predicate": "subClassOf",
"target": "RenpenningSyndrome"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Porteous type None [{'predicate': 'subClassOf', 'target': 'RenpenningSyndrome'}]"
} |
{
"aliases": null,
"definition": "X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.",
"id": "XLinkedIntellectualDisability_SchimkeType",
"label": "X-linked intellectual disability, Schimke type",
"logical_definition": null,
"original_id": "MONDO:0010729",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Schimke type X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisability_SchutzType",
"label": "X-linked intellectual disability, Schutz type",
"logical_definition": null,
"original_id": "MONDO:0017616",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Schutz type None [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.",
"id": "XLinkedIntellectualDisability_SeemanovaType",
"label": "X-linked intellectual disability, Seemanova type",
"logical_definition": null,
"original_id": "MONDO:0019421",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Seemanova type X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.",
"id": "XLinkedIntellectualDisability_StevensonType",
"label": "X-linked intellectual disability, Stevenson type",
"logical_definition": null,
"original_id": "MONDO:0019422",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Stevenson type An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisability_StoccoDosSantosType",
"label": "X-linked intellectual disability, Stocco dos Santos type",
"logical_definition": null,
"original_id": "MONDO:0010325",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "SHROOM4"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Stocco dos Santos type None [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'SHROOM4'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.",
"id": "XLinkedIntellectualDisability_StollType",
"label": "X-linked intellectual disability, Stoll type",
"logical_definition": null,
"original_id": "MONDO:0019423",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalNervousSystemDisorder"
},
{
"predicate": "subClassOf",
"target": "MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability"
},
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Stoll type X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. [{'predicate': 'subClassOf', 'target': 'CongenitalNervousSystemDisorder'}, {'predicate': 'subClassOf', 'target': 'MultipleCongenitalAnomaliesDysmorphicSyndromeIntellectualDisability'}, {'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedIntellectualDisability_SutherlandHaanType",
"label": "X-linked intellectual disability, Sutherland-Haan type",
"logical_definition": null,
"original_id": "MONDO:0019769",
"relationships": [
{
"predicate": "subClassOf",
"target": "RenpenningSyndrome"
}
]
} | 0 | {
"document": "X-linked intellectual disability, Sutherland-Haan type None [{'predicate': 'subClassOf', 'target': 'RenpenningSyndrome'}]"
} |
{
"aliases": null,
"definition": "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.",
"id": "XLinkedIntellectualDisability_vanEschType",
"label": "X-linked intellectual disability, van Esch type",
"logical_definition": null,
"original_id": "MONDO:0015601",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedSyndromicIntellectualDisability"
}
]
} | 0 | {
"document": "X-linked intellectual disability, van Esch type X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. [{'predicate': 'subClassOf', 'target': 'XLinkedSyndromicIntellectualDisability'}]"
} |
{
"aliases": null,
"definition": null,
"id": "XLinkedKeloidScarringReducedJointMobilityIncreasedOpticCupToDiscRatioSyndrome",
"label": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome",
"logical_definition": null,
"original_id": "MONDO:0044617",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicDisease"
}
]
} | 0 | {
"document": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome None [{'predicate': 'subClassOf', 'target': 'SyndromicDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked form of lethal multiple pterygium syndrome.",
"id": "XLinkedLethalMultiplePterygiumSyndrome",
"label": "X-linked lethal multiple pterygium syndrome",
"logical_definition": null,
"original_id": "MONDO:0010716",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "LethalMultiplePterygiumSyndrome"
}
]
} | 0 | {
"document": "X-linked lethal multiple pterygium syndrome X-linked form of lethal multiple pterygium syndrome. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'LethalMultiplePterygiumSyndrome'}]"
} |
{
"aliases": null,
"definition": "X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.",
"id": "XLinkedLissencephalyWithAbnormalGenitalia",
"label": "X-linked lissencephaly with abnormal genitalia",
"logical_definition": null,
"original_id": "MONDO:0010268",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "ARX"
},
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "ARXRelatedEncephalopathyBrainMalformationSpectrum"
},
{
"predicate": "subClassOf",
"target": "LissencephalySpectrumDisorders"
},
{
"predicate": "subClassOf",
"target": "Hereditary46XYDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'ARX'}, {'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'ARXRelatedEncephalopathyBrainMalformationSpectrum'}, {'predicate': 'subClassOf', 'target': 'LissencephalySpectrumDisorders'}, {'predicate': 'subClassOf', 'target': 'Hereditary46XYDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.",
"id": "XLinkedLymphoproliferativeDiseaseDueToSH2D1ADeficiency",
"label": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
"logical_definition": null,
"original_id": "MONDO:0024551",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "SH2D1A"
},
{
"predicate": "subClassOf",
"target": "XLinkedLymphoproliferativeSyndrome"
},
{
"predicate": "subClassOf",
"target": "XLinkedRecessiveDisease"
}
]
} | 0 | {
"document": "X-linked lymphoproliferative disease due to SH2D1A deficiency A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'SH2D1A'}, {'predicate': 'subClassOf', 'target': 'XLinkedLymphoproliferativeSyndrome'}, {'predicate': 'subClassOf', 'target': 'XLinkedRecessiveDisease'}]"
} |
{
"aliases": null,
"definition": "A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.",
"id": "XLinkedLymphoproliferativeDiseaseDueToXIAPDeficiency",
"label": "X-linked lymphoproliferative disease due to XIAP deficiency",
"logical_definition": null,
"original_id": "MONDO:0010385",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "XIAP"
},
{
"predicate": "subClassOf",
"target": "XLinkedLymphoproliferativeSyndrome"
},
{
"predicate": "subClassOf",
"target": "XLinkedRecessiveDisease"
}
]
} | 0 | {
"document": "X-linked lymphoproliferative disease due to XIAP deficiency A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'XIAP'}, {'predicate': 'subClassOf', 'target': 'XLinkedLymphoproliferativeSyndrome'}, {'predicate': 'subClassOf', 'target': 'XLinkedRecessiveDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).",
"id": "XLinkedLymphoproliferativeSyndrome",
"label": "X-linked lymphoproliferative syndrome",
"logical_definition": null,
"original_id": "MONDO:0010627",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "HereditaryHemophagocyticLymphohistiocytosis"
},
{
"predicate": "subClassOf",
"target": "LymphoproliferativeSyndrome"
},
{
"predicate": "subClassOf",
"target": "ImmunodeficiencyDisease"
}
]
} | 0 | {
"document": "X-linked lymphoproliferative syndrome X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'HereditaryHemophagocyticLymphohistiocytosis'}, {'predicate': 'subClassOf', 'target': 'LymphoproliferativeSyndrome'}, {'predicate': 'subClassOf', 'target': 'ImmunodeficiencyDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.",
"id": "XLinkedMandibulofacialDysostosis",
"label": "X-linked mandibulofacial dysostosis",
"logical_definition": null,
"original_id": "MONDO:0010539",
"relationships": [
{
"predicate": "subClassOf",
"target": "XLinkedDisease"
},
{
"predicate": "subClassOf",
"target": "SyndromicDisease"
},
{
"predicate": "subClassOf",
"target": "MandibulofacialDysostosis"
},
{
"predicate": "subClassOf",
"target": "HereditaryOtorhinolaryngologicDisease"
}
]
} | 0 | {
"document": "X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. [{'predicate': 'subClassOf', 'target': 'XLinkedDisease'}, {'predicate': 'subClassOf', 'target': 'SyndromicDisease'}, {'predicate': 'subClassOf', 'target': 'MandibulofacialDysostosis'}, {'predicate': 'subClassOf', 'target': 'HereditaryOtorhinolaryngologicDisease'}]"
} |
{
"aliases": null,
"definition": "A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.",
"id": "XLinkedMendelianSusceptibilityToMycobacterialDiseases",
"label": "X-linked Mendelian susceptibility to mycobacterial diseases",
"logical_definition": null,
"original_id": "MONDO:0017905",
"relationships": [
{
"predicate": "HasCharacteristic",
"target": "XLinkedInheritance"
},
{
"predicate": "subClassOf",
"target": "InheritedSusceptibilityToMycobacterialDiseases"
}
]
} | 0 | {
"document": "X-linked Mendelian susceptibility to mycobacterial diseases A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. [{'predicate': 'HasCharacteristic', 'target': 'XLinkedInheritance'}, {'predicate': 'subClassOf', 'target': 'InheritedSusceptibilityToMycobacterialDiseases'}]"
} |
{
"aliases": null,
"definition": "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.",
"id": "XLinkedMendelianSusceptibilityToMycobacterialDiseasesDueToCYBBDeficiency",
"label": "X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency",
"logical_definition": null,
"original_id": "MONDO:0010389",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "CYBB"
},
{
"predicate": "subClassOf",
"target": "XLinkedMendelianSusceptibilityToMycobacterialDiseases"
}
]
} | 0 | {
"document": "X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'CYBB'}, {'predicate': 'subClassOf', 'target': 'XLinkedMendelianSusceptibilityToMycobacterialDiseases'}]"
} |
{
"aliases": null,
"definition": "A susceptibility or predisposition to mycobacterial infectious diseases in which the cause of the disease is a mutation in the IKBKG gene.",
"id": "XLinkedMendelianSusceptibilityToMycobacterialDiseasesDueToIKBKGDeficiency",
"label": "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency",
"logical_definition": null,
"original_id": "MONDO:0700042",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "IKBKG"
},
{
"predicate": "PredisposesTowards",
"target": "MycobacterialInfectiousDisease"
},
{
"predicate": "subClassOf",
"target": "XLinkedMendelianSusceptibilityToMycobacterialDiseases"
}
]
} | 0 | {
"document": "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency A susceptibility or predisposition to mycobacterial infectious diseases in which the cause of the disease is a mutation in the IKBKG gene. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'IKBKG'}, {'predicate': 'PredisposesTowards', 'target': 'MycobacterialInfectiousDisease'}, {'predicate': 'subClassOf', 'target': 'XLinkedMendelianSusceptibilityToMycobacterialDiseases'}]"
} |
{
"aliases": null,
"definition": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.",
"id": "XLinkedMicrocephalyGrowthRetardationPrognathismCryptorchidismSyndrome",
"label": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome",
"logical_definition": null,
"original_id": "MONDO:0018569",
"relationships": [
{
"predicate": "subClassOf",
"target": "SyndromicDisease"
}
]
} | 0 | {
"document": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. [{'predicate': 'subClassOf', 'target': 'SyndromicDisease'}]"
} |
{
"aliases": null,
"definition": "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.",
"id": "XLinkedMixedHearingLossWithPerilymphaticGusher",
"label": "X-linked mixed hearing loss with perilymphatic gusher",
"logical_definition": null,
"original_id": "MONDO:0010576",
"relationships": [
{
"predicate": "subClassOf",
"target": "InnerEarDisorder"
},
{
"predicate": "subClassOf",
"target": "HereditaryOtorhinolaryngologicDisease"
},
{
"predicate": "subClassOf",
"target": "XLinkedNonsyndromicHearingLoss"
}
]
} | 0 | {
"document": "X-linked mixed hearing loss with perilymphatic gusher X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss. [{'predicate': 'subClassOf', 'target': 'InnerEarDisorder'}, {'predicate': 'subClassOf', 'target': 'HereditaryOtorhinolaryngologicDisease'}, {'predicate': 'subClassOf', 'target': 'XLinkedNonsyndromicHearingLoss'}]"
} |
{
"aliases": null,
"definition": "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.",
"id": "XLinkedMyopathyWithExcessiveAutophagy",
"label": "X-linked myopathy with excessive autophagy",
"logical_definition": null,
"original_id": "MONDO:0010684",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "VMA21"
},
{
"predicate": "subClassOf",
"target": "ProgressiveMuscularDystrophy"
},
{
"predicate": "subClassOf",
"target": "HereditaryInclusionBodyMyopathy"
}
]
} | 0 | {
"document": "X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'VMA21'}, {'predicate': 'subClassOf', 'target': 'ProgressiveMuscularDystrophy'}, {'predicate': 'subClassOf', 'target': 'HereditaryInclusionBodyMyopathy'}]"
} |
{
"aliases": null,
"definition": "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.",
"id": "XLinkedMyopathyWithPosturalMuscleAtrophy",
"label": "X-linked myopathy with postural muscle atrophy",
"logical_definition": null,
"original_id": "MONDO:0010401",
"relationships": [
{
"predicate": "HasMaterialBasisInGermlineMutationIn",
"target": "FHL1"
},
{
"predicate": "subClassOf",
"target": "EmeryDreifussMuscularDystrophy"
}
]
} | 0 | {
"document": "X-linked myopathy with postural muscle atrophy X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. [{'predicate': 'HasMaterialBasisInGermlineMutationIn', 'target': 'FHL1'}, {'predicate': 'subClassOf', 'target': 'EmeryDreifussMuscularDystrophy'}]"
} |
{
"aliases": null,
"definition": "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.",
"id": "XLinkedMyotubularMyopathyAbnormalGenitaliaSyndrome",
"label": "X-linked myotubular myopathy-abnormal genitalia syndrome",
"logical_definition": null,
"original_id": "MONDO:0010271",
"relationships": [
{
"predicate": "DiseaseArisesFromStructure",
"target": "Xq28_Human_"
},
{
"predicate": "subClassOf",
"target": "XLinkedCentronuclearMyopathy"
},
{
"predicate": "subClassOf",
"target": "PartialDeletionOfTheLongArmOfChromosomeX"
},
{
"predicate": "subClassOf",
"target": "Hereditary46XYDisorderOfSexDevelopment"
}
]
} | 0 | {
"document": "X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. [{'predicate': 'DiseaseArisesFromStructure', 'target': 'Xq28_Human_'}, {'predicate': 'subClassOf', 'target': 'XLinkedCentronuclearMyopathy'}, {'predicate': 'subClassOf', 'target': 'PartialDeletionOfTheLongArmOfChromosomeX'}, {'predicate': 'subClassOf', 'target': 'Hereditary46XYDisorderOfSexDevelopment'}]"
} |
{
"aliases": null,
"definition": "X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.",
"id": "XLinkedNeurodegenerativeSyndrome_BertiniType",
"label": "X-linked neurodegenerative syndrome, Bertini type",
"logical_definition": null,
"original_id": "MONDO:0019427",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritedNeurodegenerativeDisorder"
}
]
} | 0 | {
"document": "X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. [{'predicate': 'subClassOf', 'target': 'InheritedNeurodegenerativeDisorder'}]"
} |