0
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dict |
|---|---|---|
{
"aliases": null,
"definition": "An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.",
"id": "AtypicalAbsenceSeizure",
"label": "Atypical absence seizure",
"logical_definition": null,
"original_id": "HP:0007270",
"relationships": [
{
"predicate": "subClassOf",
"target": "GeneralizedNonMotor_absence_seizure"
}
]
}
| 0 |
{
"document": "Atypical absence seizure An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. [{'predicate': 'subClassOf', 'target': 'GeneralizedNonMotor_absence_seizure'}]"
}
|
{
"aliases": null,
"definition": "Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.",
"id": "AtypicalAbsenceStatusEpilepticus",
"label": "Atypical absence status epilepticus",
"logical_definition": null,
"original_id": "HP:0011151",
"relationships": [
{
"predicate": "subClassOf",
"target": "StatusEpilepticusWithoutProminentMotorSymptoms"
},
{
"predicate": "subClassOf",
"target": "GeneralizedNonConvulsiveStatusEpilepticusWithoutComa"
}
]
}
| 0 |
{
"document": "Atypical absence status epilepticus Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. [{'predicate': 'subClassOf', 'target': 'StatusEpilepticusWithoutProminentMotorSymptoms'}, {'predicate': 'subClassOf', 'target': 'GeneralizedNonConvulsiveStatusEpilepticusWithoutComa'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities.",
"id": "AtypicalBehavior",
"label": "Atypical behavior",
"logical_definition": null,
"original_id": "HP:0000708",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfHigherMentalFunction"
}
]
}
| 0 |
{
"document": "Atypical behavior An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfHigherMentalFunction'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AtypicalElliptocytosis",
"label": "Atypical elliptocytosis",
"logical_definition": null,
"original_id": "HP:0004822",
"relationships": [
{
"predicate": "subClassOf",
"target": "Elliptocytosis"
}
]
}
| 0 |
{
"document": "Atypical elliptocytosis None [{'predicate': 'subClassOf', 'target': 'Elliptocytosis'}]"
}
|
{
"aliases": null,
"definition": "Epithelium that consists of epithelial cells not arranged in one ore more layers.",
"id": "AtypicalEpithelium",
"label": "atypical epithelium",
"logical_definition": null,
"original_id": "UBERON:0000488",
"relationships": [
{
"predicate": "subClassOf",
"target": "Epithelium"
}
]
}
| 0 |
{
"document": "atypical epithelium Epithelium that consists of epithelial cells not arranged in one ore more layers. [{'predicate': 'subClassOf', 'target': 'Epithelium'}]"
}
|
{
"aliases": null,
"definition": "Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.",
"id": "AtypicalGestures",
"label": "Atypical gestures",
"logical_definition": null,
"original_id": "HP:0034481",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGestureUse"
}
]
}
| 0 |
{
"document": "Atypical gestures Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures. [{'predicate': 'subClassOf', 'target': 'AbnormalGestureUse'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AtypicalHyperphenylalaninemia",
"label": "Atypical hyperphenylalaninemia",
"logical_definition": null,
"original_id": "HP:0004922",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingPhenylalanineConcentration"
}
]
}
| 0 |
{
"document": "Atypical hyperphenylalaninemia None [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingPhenylalanineConcentration'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AtypicalNeurofibromatosis",
"label": "Atypical neurofibromatosis",
"logical_definition": null,
"original_id": "HP:0007524",
"relationships": [
{
"predicate": "subClassOf",
"target": "Neurofibroma"
}
]
}
| 0 |
{
"document": "Atypical neurofibromatosis None [{'predicate': 'subClassOf', 'target': 'Neurofibroma'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AtypicalNeviInNonSunExposedAreas",
"label": "Atypical nevi in non-sun exposed areas",
"logical_definition": null,
"original_id": "HP:0001074",
"relationships": [
{
"predicate": "subClassOf",
"target": "Nevus"
}
]
}
| 0 |
{
"document": "Atypical nevi in non-sun exposed areas None [{'predicate': 'subClassOf', 'target': 'Nevus'}]"
}
|
{
"aliases": null,
"definition": "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.",
"id": "AtypicalNevus",
"label": "Atypical nevus",
"logical_definition": null,
"original_id": "HP:0001062",
"relationships": [
{
"predicate": "subClassOf",
"target": "Nevus"
}
]
}
| 0 |
{
"document": "Atypical nevus A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. [{'predicate': 'subClassOf', 'target': 'Nevus'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AtypicalOrProlongedHepatitis",
"label": "Atypical or prolonged hepatitis",
"logical_definition": null,
"original_id": "HP:0200122",
"relationships": [
{
"predicate": "subClassOf",
"target": "Hepatitis"
}
]
}
| 0 |
{
"document": "Atypical or prolonged hepatitis None [{'predicate': 'subClassOf', 'target': 'Hepatitis'}]"
}
|
{
"aliases": null,
"definition": "A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).",
"id": "AtypicalPerifissuralNodule",
"label": "Atypical perifissural nodule",
"logical_definition": null,
"original_id": "HP:0033620",
"relationships": [
{
"predicate": "subClassOf",
"target": "PerifissuralPulmonaryNodule"
}
]
}
| 0 |
{
"document": "Atypical perifissural nodule A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). [{'predicate': 'subClassOf', 'target': 'PerifissuralPulmonaryNodule'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AtypicalPulmonaryCarcinoidTumor",
"label": "Atypical pulmonary carcinoid tumor",
"logical_definition": null,
"original_id": "HP:0030446",
"relationships": [
{
"predicate": "subClassOf",
"target": "PulmonaryCarcinoidTumor"
}
]
}
| 0 |
{
"document": "Atypical pulmonary carcinoid tumor None [{'predicate': 'subClassOf', 'target': 'PulmonaryCarcinoidTumor'}]"
}
|
{
"aliases": null,
"definition": "Atypically scarred skin .",
"id": "AtypicalScarringOfSkin",
"label": "Atypical scarring of skin",
"logical_definition": null,
"original_id": "HP:0000987",
"relationships": [
{
"predicate": "subClassOf",
"target": "LocalizedSkinLesion"
},
{
"predicate": "subClassOf",
"target": "Scarring"
}
]
}
| 0 |
{
"document": "Atypical scarring of skin Atypically scarred skin . [{'predicate': 'subClassOf', 'target': 'LocalizedSkinLesion'}, {'predicate': 'subClassOf', 'target': 'Scarring'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AtypicalSensoryExaminationOfObjects",
"label": "Atypical sensory examination of objects",
"logical_definition": null,
"original_id": "HP:5200132",
"relationships": [
{
"predicate": "subClassOf",
"target": "SensorySeeking"
},
{
"predicate": "subClassOf",
"target": "NonfunctionalOrAtypicalUseOfObjectsInPlay"
}
]
}
| 0 |
{
"document": "Atypical sensory examination of objects None [{'predicate': 'subClassOf', 'target': 'SensorySeeking'}, {'predicate': 'subClassOf', 'target': 'NonfunctionalOrAtypicalUseOfObjectsInPlay'}]"
}
|
{
"aliases": null,
"definition": "Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.",
"id": "AtypicalSorting",
"label": "Atypical sorting",
"logical_definition": null,
"original_id": "HP:5200049",
"relationships": [
{
"predicate": "subClassOf",
"target": "CompulsiveBehaviors"
}
]
}
| 0 |
{
"document": "Atypical sorting Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity. [{'predicate': 'subClassOf', 'target': 'CompulsiveBehaviors'}]"
}
|
{
"aliases": null,
"definition": "An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.",
"id": "AtypicalTeratoidRhabdoidTumor",
"label": "Atypical teratoid/rhabdoid tumor",
"logical_definition": null,
"original_id": "HP:0034401",
"relationships": [
{
"predicate": "subClassOf",
"target": "EmbryonalNeoplasm"
}
]
}
| 0 |
{
"document": "Atypical teratoid/rhabdoid tumor An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia. [{'predicate': 'subClassOf', 'target': 'EmbryonalNeoplasm'}]"
}
|
{
"aliases": null,
"definition": "\"Behavior related to the actions or reactions of an organism in response to a sound.\" [GO:0031223]",
"id": "AuditoryBehavior",
"label": "auditory behavior",
"logical_definition": null,
"original_id": "NBO:0000316",
"relationships": [
{
"predicate": "ByMeans",
"target": "VestibuloAuditorySystem"
},
{
"predicate": "InResponseTo",
"target": "SensoryPerceptionOfSound"
},
{
"predicate": "subClassOf",
"target": "SensationBehavior"
}
]
}
| 0 |
{
"document": "auditory behavior \"Behavior related to the actions or reactions of an organism in response to a sound.\" [GO:0031223] [{'predicate': 'ByMeans', 'target': 'VestibuloAuditorySystem'}, {'predicate': 'InResponseTo', 'target': 'SensoryPerceptionOfSound'}, {'predicate': 'subClassOf', 'target': 'SensationBehavior'}]"
}
|
{
"aliases": null,
"definition": "A specialized cell involved in auditory sensory perception.",
"id": "AuditoryEpithelialCell",
"label": "auditory epithelial cell",
"logical_definition": null,
"original_id": "CL:0002491",
"relationships": [
{
"predicate": "subClassOf",
"target": "SensoryEpithelialCell"
}
]
}
| 0 |
{
"document": "auditory epithelial cell A specialized cell involved in auditory sensory perception. [{'predicate': 'subClassOf', 'target': 'SensoryEpithelialCell'}]"
}
|
{
"aliases": null,
"definition": "\"A form of hallucination that involves perceiving sounds without auditory stimulus.\" [wikipedia:Auditory_hallucination]",
"id": "AuditoryHallucination",
"label": "auditory hallucination",
"logical_definition": null,
"original_id": "NBO:0000610",
"relationships": [
{
"predicate": "ByMeans",
"target": "VestibuloAuditorySystem"
},
{
"predicate": "subClassOf",
"target": "Hallucination"
}
]
}
| 0 |
{
"document": "auditory hallucination \"A form of hallucination that involves perceiving sounds without auditory stimulus.\" [wikipedia:Auditory_hallucination] [{'predicate': 'ByMeans', 'target': 'VestibuloAuditorySystem'}, {'predicate': 'subClassOf', 'target': 'Hallucination'}]"
}
|
{
"aliases": null,
"definition": "The false perception of sound.",
"id": "AuditoryHallucinations",
"label": "Auditory hallucinations",
"logical_definition": null,
"original_id": "HP:0008765",
"relationships": [
{
"predicate": "subClassOf",
"target": "Hallucinations"
}
]
}
| 0 |
{
"document": "Auditory hallucinations The false perception of sound. [{'predicate': 'subClassOf', 'target': 'Hallucinations'}]"
}
|
{
"aliases": null,
"definition": "A collection of protruberances derived from pharyngeal arches 1 and 2 that develop into the folds of the pinna and gradually shift upwards and backwards to their final position on the head.",
"id": "AuditoryHillocks",
"label": "auditory hillocks",
"logical_definition": null,
"original_id": "UBERON:0006208",
"relationships": [
{
"predicate": "PartOf",
"target": "Embryo"
},
{
"predicate": "PartOf",
"target": "ExternalEar"
},
{
"predicate": "subClassOf",
"target": "AnatomicalCluster"
}
]
}
| 0 |
{
"document": "auditory hillocks A collection of protruberances derived from pharyngeal arches 1 and 2 that develop into the folds of the pinna and gradually shift upwards and backwards to their final position on the head. [{'predicate': 'PartOf', 'target': 'Embryo'}, {'predicate': 'PartOf', 'target': 'ExternalEar'}, {'predicate': 'subClassOf', 'target': 'AnatomicalCluster'}]"
}
|
{
"aliases": null,
"definition": "A collection of protruberances derived from pharyngeal arch 1 that develop into the tragus, crus of the helix, and helix.",
"id": "AuditoryHillocks_pharyngealArch1Derived",
"label": "auditory hillocks, pharyngeal arch 1 derived",
"logical_definition": null,
"original_id": "UBERON:0016611",
"relationships": null
}
| 0 |
{
"document": "auditory hillocks, pharyngeal arch 1 derived A collection of protruberances derived from pharyngeal arch 1 that develop into the tragus, crus of the helix, and helix. None"
}
|
{
"aliases": null,
"definition": "A collection of protruberances derived from pharyngeal arch 2 that develop into the concha, antihelix and antitragus.",
"id": "AuditoryHillocks_pharyngealArch2Derived",
"label": "auditory hillocks, pharyngeal arch 2 derived",
"logical_definition": null,
"original_id": "UBERON:0016612",
"relationships": null
}
| 0 |
{
"document": "auditory hillocks, pharyngeal arch 2 derived A collection of protruberances derived from pharyngeal arch 2 that develop into the concha, antihelix and antitragus. None"
}
|
{
"aliases": null,
"definition": "Hyperresponsive to sound that is abnormal in intensity and/or frequency.",
"id": "AuditoryHypersensitivity",
"label": "Auditory hypersensitivity",
"logical_definition": null,
"original_id": "HP:5200060",
"relationships": [
{
"predicate": "subClassOf",
"target": "SensoryHypersensitivity"
}
]
}
| 0 |
{
"document": "Auditory hypersensitivity Hyperresponsive to sound that is abnormal in intensity and/or frequency. [{'predicate': 'subClassOf', 'target': 'SensoryHypersensitivity'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AuditoryMeatusEpithelium",
"label": "auditory meatus epithelium",
"logical_definition": null,
"original_id": "UBERON:0010065",
"relationships": [
{
"predicate": "PartOf",
"target": "ExternalEar"
},
{
"predicate": "DevelopsFrom",
"target": "1stArchPharyngealCleft"
},
{
"predicate": "subClassOf",
"target": "EpithelialTube"
}
]
}
| 0 |
{
"document": "auditory meatus epithelium None [{'predicate': 'PartOf', 'target': 'ExternalEar'}, {'predicate': 'DevelopsFrom', 'target': '1stArchPharyngealCleft'}, {'predicate': 'subClassOf', 'target': 'EpithelialTube'}]"
}
|
{
"aliases": null,
"definition": "One of 3 small bones contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth. The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term 'ossicles' literally means 'tiny bones' and commonly refers to the auditory ossicles, though the term may refer to any small bone throughout the body. [WP,unvetted].",
"id": "AuditoryOssicleBone",
"label": "auditory ossicle bone",
"logical_definition": null,
"original_id": "UBERON:0001686",
"relationships": [
{
"predicate": "PartOf",
"target": "MiddleEar"
},
{
"predicate": "PartOf",
"target": "Splanchnocranium"
},
{
"predicate": "DevelopsFrom",
"target": "CranialNeuralCrest"
}
]
}
| 0 |
{
"document": "auditory ossicle bone One of 3 small bones contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth. The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term 'ossicles' literally means 'tiny bones' and commonly refers to the auditory ossicles, though the term may refer to any small bone throughout the body. [WP,unvetted]. [{'predicate': 'PartOf', 'target': 'MiddleEar'}, {'predicate': 'PartOf', 'target': 'Splanchnocranium'}, {'predicate': 'DevelopsFrom', 'target': 'CranialNeuralCrest'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AuditoryOssicleCartilageElement",
"label": "auditory ossicle cartilage element",
"logical_definition": null,
"original_id": "UBERON:0035131",
"relationships": null
}
| 0 |
{
"document": "auditory ossicle cartilage element None None"
}
|
{
"aliases": null,
"definition": null,
"id": "AuditoryOssicleEndochondralElement",
"label": "auditory ossicle endochondral element",
"logical_definition": null,
"original_id": "UBERON:0035130",
"relationships": [
{
"predicate": "PartOf",
"target": "MiddleEar"
},
{
"predicate": "PartOf",
"target": "Splanchnocranium"
},
{
"predicate": "DevelopsFrom",
"target": "CranialNeuralCrest"
},
{
"predicate": "ContributesToMorphologyOf",
"target": "MiddleEar"
},
{
"predicate": "subClassOf",
"target": "EndochondralElement"
}
]
}
| 0 |
{
"document": "auditory ossicle endochondral element None [{'predicate': 'PartOf', 'target': 'MiddleEar'}, {'predicate': 'PartOf', 'target': 'Splanchnocranium'}, {'predicate': 'DevelopsFrom', 'target': 'CranialNeuralCrest'}, {'predicate': 'ContributesToMorphologyOf', 'target': 'MiddleEar'}, {'predicate': 'subClassOf', 'target': 'EndochondralElement'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AuditoryOssiclePreCartilageElement",
"label": "auditory ossicle pre-cartilage element",
"logical_definition": null,
"original_id": "UBERON:0035132",
"relationships": null
}
| 0 |
{
"document": "auditory ossicle pre-cartilage element None None"
}
|
{
"aliases": null,
"definition": "Decreased tolerance to sound.",
"id": "AuditorySensitivity",
"label": "Auditory sensitivity",
"logical_definition": null,
"original_id": "HP:0025112",
"relationships": [
{
"predicate": "subClassOf",
"target": "SensoryHypersensitivity"
}
]
}
| 0 |
{
"document": "Auditory sensitivity Decreased tolerance to sound. [{'predicate': 'subClassOf', 'target': 'SensoryHypersensitivity'}]"
}
|
{
"aliases": null,
"definition": "Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.",
"id": "AuditorySensorySeeking",
"label": "Auditory sensory seeking",
"logical_definition": null,
"original_id": "HP:5200062",
"relationships": [
{
"predicate": "subClassOf",
"target": "SensorySeeking"
}
]
}
| 0 |
{
"document": "Auditory sensory seeking Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency. [{'predicate': 'subClassOf', 'target': 'SensorySeeking'}]"
}
|
{
"aliases": null,
"definition": "Is the sensory system for the sense of hearing.",
"id": "AuditorySystem",
"label": "auditory system",
"logical_definition": null,
"original_id": "UBERON:0016490",
"relationships": [
{
"predicate": "PartOf",
"target": "VestibuloAuditorySystem"
}
]
}
| 0 |
{
"document": "auditory system Is the sensory system for the sense of hearing. [{'predicate': 'PartOf', 'target': 'VestibuloAuditorySystem'}]"
}
|
{
"aliases": null,
"definition": "An artery that supplies oxygenated blood to the ear.",
"id": "AuricularArtery",
"label": "auricular artery",
"logical_definition": null,
"original_id": "UBERON:0009655",
"relationships": null
}
| 0 |
{
"document": "auricular artery An artery that supplies oxygenated blood to the ear. None"
}
|
{
"aliases": null,
"definition": "A blood vessel that supplies or drains an ear.",
"id": "AuricularBloodVessel",
"label": "auricular blood vessel",
"logical_definition": null,
"original_id": "UBERON:0020550",
"relationships": null
}
| 0 |
{
"document": "auricular blood vessel A blood vessel that supplies or drains an ear. None"
}
|
{
"aliases": null,
"definition": "Cartilage of the pinna and much of the external ear canal.",
"id": "AuricularCartilage",
"label": "auricular cartilage",
"logical_definition": null,
"original_id": "UBERON:0001848",
"relationships": null
}
| 0 |
{
"document": "auricular cartilage Cartilage of the pinna and much of the external ear canal. None"
}
|
{
"aliases": null,
"definition": "Small indentation in the lower part of the ascending helix, concha, or in the crus helix.",
"id": "AuricularPit",
"label": "Auricular pit",
"logical_definition": null,
"original_id": "HP:0030025",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPinnaMorphology"
}
]
}
| 0 |
{
"document": "Auricular pit Small indentation in the lower part of the ascending helix, concha, or in the crus helix. [{'predicate': 'subClassOf', 'target': 'AbnormalPinnaMorphology'}]"
}
|
{
"aliases": null,
"definition": "Small protrusion within the pinna.",
"id": "AuricularTag",
"label": "Auricular tag",
"logical_definition": null,
"original_id": "HP:0030021",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPinnaMorphology"
}
]
}
| 0 |
{
"document": "Auricular tag Small protrusion within the pinna. [{'predicate': 'subClassOf', 'target': 'AbnormalPinnaMorphology'}]"
}
|
{
"aliases": null,
"definition": "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).",
"id": "Autism",
"label": "Autism",
"logical_definition": null,
"original_id": "HP:0000717",
"relationships": [
{
"predicate": "subClassOf",
"target": "AutisticBehavior"
}
]
}
| 0 |
{
"document": "Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). [{'predicate': 'subClassOf', 'target': 'AutisticBehavior'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AutismWithHighCognitiveAbilities",
"label": "Autism with high cognitive abilities",
"logical_definition": null,
"original_id": "HP:0000753",
"relationships": [
{
"predicate": "subClassOf",
"target": "AutisticBehavior"
}
]
}
| 0 |
{
"document": "Autism with high cognitive abilities None [{'predicate': 'subClassOf', 'target': 'AutisticBehavior'}]"
}
|
{
"aliases": null,
"definition": "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.",
"id": "AutisticBehavior",
"label": "Autistic behavior",
"logical_definition": null,
"original_id": "HP:0000729",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtypicalBehavior"
}
]
}
| 0 |
{
"document": "Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. [{'predicate': 'subClassOf', 'target': 'AtypicalBehavior'}]"
}
|
{
"aliases": null,
"definition": "Spontaneous detachment (amputation) of an appendage from the body.",
"id": "Autoamputation",
"label": "Autoamputation",
"logical_definition": null,
"original_id": "HP:0001218",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfLimbs"
}
]
}
| 0 |
{
"document": "Autoamputation Spontaneous detachment (amputation) of an appendage from the body. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLimbs'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AutoamputationOfDigits",
"label": "Autoamputation of digits",
"logical_definition": null,
"original_id": "HP:0007460",
"relationships": [
{
"predicate": "subClassOf",
"target": "Autoamputation"
},
{
"predicate": "subClassOf",
"target": "AbnormalHandMorphology"
}
]
}
| 0 |
{
"document": "Autoamputation of digits None [{'predicate': 'subClassOf', 'target': 'Autoamputation'}, {'predicate': 'subClassOf', 'target': 'AbnormalHandMorphology'}]"
}
|
{
"aliases": null,
"definition": "Spontaneous detachment of a foot from the body.",
"id": "AutoamputationOfFoot",
"label": "Autoamputation of foot",
"logical_definition": null,
"original_id": "HP:0001868",
"relationships": [
{
"predicate": "subClassOf",
"target": "Autoamputation"
},
{
"predicate": "subClassOf",
"target": "AbnormalFootMorphology"
}
]
}
| 0 |
{
"document": "Autoamputation of foot Spontaneous detachment of a foot from the body. [{'predicate': 'subClassOf', 'target': 'Autoamputation'}, {'predicate': 'subClassOf', 'target': 'AbnormalFootMorphology'}]"
}
|
{
"aliases": null,
"definition": "The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.",
"id": "AutoimmuneAntibodyPositivity",
"label": "Autoimmune antibody positivity",
"logical_definition": null,
"original_id": "HP:0030057",
"relationships": [
{
"predicate": "subClassOf",
"target": "Autoimmunity"
}
]
}
| 0 |
{
"document": "Autoimmune antibody positivity The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. [{'predicate': 'subClassOf', 'target': 'Autoimmunity'}]"
}
|
{
"aliases": null,
"definition": "An autoimmune form of hemolytic anemia.",
"id": "AutoimmuneHemolyticAnemia",
"label": "Autoimmune hemolytic anemia",
"logical_definition": null,
"original_id": "HP:0001890",
"relationships": [
{
"predicate": "subClassOf",
"target": "HemolyticAnemia"
},
{
"predicate": "subClassOf",
"target": "Autoimmunity"
}
]
}
| 0 |
{
"document": "Autoimmune hemolytic anemia An autoimmune form of hemolytic anemia. [{'predicate': 'subClassOf', 'target': 'HemolyticAnemia'}, {'predicate': 'subClassOf', 'target': 'Autoimmunity'}]"
}
|
{
"aliases": null,
"definition": "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.",
"id": "AutoimmuneHypoparathyroidism",
"label": "Autoimmune hypoparathyroidism",
"logical_definition": null,
"original_id": "HP:0011771",
"relationships": [
{
"predicate": "subClassOf",
"target": "Hypoparathyroidism"
}
]
}
| 0 |
{
"document": "Autoimmune hypoparathyroidism A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. [{'predicate': 'subClassOf', 'target': 'Hypoparathyroidism'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AutoimmuneMediatedDisease",
"label": "autoimmune mediated disease",
"logical_definition": null,
"original_id": "MPATH:346",
"relationships": [
{
"predicate": "subClassOf",
"target": "ImmuneMediatedDisease"
}
]
}
| 0 |
{
"document": "autoimmune mediated disease None [{'predicate': 'subClassOf', 'target': 'ImmuneMediatedDisease'}]"
}
|
{
"aliases": null,
"definition": "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.",
"id": "AutoimmuneThrombocytopenia",
"label": "Autoimmune thrombocytopenia",
"logical_definition": null,
"original_id": "HP:0001973",
"relationships": [
{
"predicate": "subClassOf",
"target": "Thrombocytopenia"
},
{
"predicate": "subClassOf",
"target": "Autoimmunity"
}
]
}
| 0 |
{
"document": "Autoimmune thrombocytopenia The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. [{'predicate': 'subClassOf', 'target': 'Thrombocytopenia'}, {'predicate': 'subClassOf', 'target': 'Autoimmunity'}]"
}
|
{
"aliases": null,
"definition": "The occurrence of an immune reaction against the organism's own cells or tissues.",
"id": "Autoimmunity",
"label": "Autoimmunity",
"logical_definition": null,
"original_id": "HP:0002960",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfImmuneSystemPhysiology"
}
]
}
| 0 |
{
"document": "Autoimmunity The occurrence of an immune reaction against the organism's own cells or tissues. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfImmuneSystemPhysiology'}]"
}
|
{
"aliases": null,
"definition": "Chronic supraventricular tachycardia predominantly seen in childhood.",
"id": "AutomaticAtrialTachycardia",
"label": "Automatic atrial tachycardia",
"logical_definition": null,
"original_id": "HP:0011700",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtrialArrhythmia"
}
]
}
| 0 |
{
"document": "Automatic atrial tachycardia Chronic supraventricular tachycardia predominantly seen in childhood. [{'predicate': 'subClassOf', 'target': 'AtrialArrhythmia'}]"
}
|
{
"aliases": null,
"definition": "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.",
"id": "AutonomicBladderDysfunction",
"label": "Autonomic bladder dysfunction",
"logical_definition": null,
"original_id": "HP:0005341",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAutonomicNervousSystemPhysiology"
}
]
}
| 0 |
{
"document": "Autonomic bladder dysfunction Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalAutonomicNervousSystemPhysiology'}]"
}
|
{
"aliases": null,
"definition": "An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.",
"id": "AutonomicEpilepticAura",
"label": "Autonomic epileptic aura",
"logical_definition": null,
"original_id": "HP:0033722",
"relationships": [
{
"predicate": "subClassOf",
"target": "FocalAutonomicSeizure"
},
{
"predicate": "subClassOf",
"target": "EpilepticAura"
}
]
}
| 0 |
{
"document": "Autonomic epileptic aura An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. [{'predicate': 'subClassOf', 'target': 'FocalAutonomicSeizure'}, {'predicate': 'subClassOf', 'target': 'EpilepticAura'}]"
}
|
{
"aliases": null,
"definition": "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.",
"id": "AutonomicErectileDysfunction",
"label": "Autonomic erectile dysfunction",
"logical_definition": null,
"original_id": "HP:0008652",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAutonomicNervousSystemPhysiology"
},
{
"predicate": "subClassOf",
"target": "ErectileDysfunction"
}
]
}
| 0 |
{
"document": "Autonomic erectile dysfunction Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalAutonomicNervousSystemPhysiology'}, {'predicate': 'subClassOf', 'target': 'ErectileDysfunction'}]"
}
|
{
"aliases": null,
"definition": "Ganglion that has dendrites that form a junction between autonomic nerves originating from the central nervous system and autonomic nerves innervating their target organs in the periphery. There are two subtypes, sympathetic ganglion and parasympathetic ganglion.",
"id": "AutonomicGanglion",
"label": "autonomic ganglion",
"logical_definition": null,
"original_id": "UBERON:0001805",
"relationships": [
{
"predicate": "ExtendsFibersInto",
"target": "AutonomicNerve"
},
{
"predicate": "subClassOf",
"target": "Ganglion"
}
]
}
| 0 |
{
"document": "autonomic ganglion Ganglion that has dendrites that form a junction between autonomic nerves originating from the central nervous system and autonomic nerves innervating their target organs in the periphery. There are two subtypes, sympathetic ganglion and parasympathetic ganglion. [{'predicate': 'ExtendsFibersInto', 'target': 'AutonomicNerve'}, {'predicate': 'subClassOf', 'target': 'Ganglion'}]"
}
|
{
"aliases": null,
"definition": "The autonomic nerve is a small nerve which carries postganglionic sympathetic and parasympathetic neurons from the zygomaticotemporal nerve; a branch of the maxillary nerve, to the lacrimal nerve; a branch of the ophthalmic nerve. These neurons derive from the superior cervical ganglion and the pterygopalatine ganglion respectively. They will travel to the lacrimal gland via the lacrimal nerve. Parasympathetic will induce lacrimation and vice versa.",
"id": "AutonomicNerve",
"label": "autonomic nerve",
"logical_definition": null,
"original_id": "UBERON:0034728",
"relationships": [
{
"predicate": "PartOf",
"target": "AutonomicNervousSystem"
},
{
"predicate": "BranchingPartOf",
"target": "ZygomaticotemporalNerve"
},
{
"predicate": "ExtendsFibersInto",
"target": "AutonomicGanglion"
},
{
"predicate": "subClassOf",
"target": "Nerve"
}
]
}
| 0 |
{
"document": "autonomic nerve The autonomic nerve is a small nerve which carries postganglionic sympathetic and parasympathetic neurons from the zygomaticotemporal nerve; a branch of the maxillary nerve, to the lacrimal nerve; a branch of the ophthalmic nerve. These neurons derive from the superior cervical ganglion and the pterygopalatine ganglion respectively. They will travel to the lacrimal gland via the lacrimal nerve. Parasympathetic will induce lacrimation and vice versa. [{'predicate': 'PartOf', 'target': 'AutonomicNervousSystem'}, {'predicate': 'BranchingPartOf', 'target': 'ZygomaticotemporalNerve'}, {'predicate': 'ExtendsFibersInto', 'target': 'AutonomicGanglion'}, {'predicate': 'subClassOf', 'target': 'Nerve'}]"
}
|
{
"aliases": null,
"definition": "A nerve plexus that is part of an autonomic nervous system [Automatically generated definition].",
"id": "AutonomicNervePlexus",
"label": "autonomic nerve plexus",
"logical_definition": null,
"original_id": "UBERON:0001816",
"relationships": null
}
| 0 |
{
"document": "autonomic nerve plexus A nerve plexus that is part of an autonomic nervous system [Automatically generated definition]. None"
}
|
{
"aliases": null,
"definition": "The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands[GO].",
"id": "AutonomicNervousSystem",
"label": "autonomic nervous system",
"logical_definition": null,
"original_id": "UBERON:0002410",
"relationships": [
{
"predicate": "PartOf",
"target": "PeripheralNervousSystem"
},
{
"predicate": "ContributesToMorphologyOf",
"target": "NervousSystem"
},
{
"predicate": "subClassOf",
"target": "OrganSystemSubdivision"
}
]
}
| 0 |
{
"document": "autonomic nervous system The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands[GO]. [{'predicate': 'PartOf', 'target': 'PeripheralNervousSystem'}, {'predicate': 'ContributesToMorphologyOf', 'target': 'NervousSystem'}, {'predicate': 'subClassOf', 'target': 'OrganSystemSubdivision'}]"
}
|
{
"aliases": null,
"definition": "A neuron whose cell body is within an autonomic ganglion.",
"id": "AutonomicNeuron",
"label": "autonomic neuron",
"logical_definition": null,
"original_id": "CL:0000107",
"relationships": [
{
"predicate": "subClassOf",
"target": "Neuron"
}
]
}
| 0 |
{
"document": "autonomic neuron A neuron whose cell body is within an autonomic ganglion. [{'predicate': 'subClassOf', 'target': 'Neuron'}]"
}
|
{
"aliases": null,
"definition": "Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.",
"id": "AutonomicStatusEpilepticus",
"label": "Autonomic status epilepticus",
"logical_definition": null,
"original_id": "HP:0032672",
"relationships": [
{
"predicate": "subClassOf",
"target": "NonConvulsiveStatusEpilepticusWithoutComa"
}
]
}
| 0 |
{
"document": "Autonomic status epilepticus Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. [{'predicate': 'subClassOf', 'target': 'NonConvulsiveStatusEpilepticusWithoutComa'}]"
}
|
{
"aliases": null,
"definition": "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.",
"id": "AutophagicVacuoles",
"label": "Autophagic vacuoles",
"logical_definition": null,
"original_id": "HP:0003736",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberMorphology"
}
]
}
| 0 |
{
"document": "Autophagic vacuoles The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberMorphology'}]"
}
|
{
"aliases": null,
"definition": "A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones.",
"id": "AutopodBone",
"label": "autopod bone",
"logical_definition": null,
"original_id": "UBERON:0011250",
"relationships": [
{
"predicate": "DevelopsFrom",
"target": "AutopodCartilage"
},
{
"predicate": "subClassOf",
"target": "AutopodEndochondralElement"
}
]
}
| 0 |
{
"document": "autopod bone A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. [{'predicate': 'DevelopsFrom', 'target': 'AutopodCartilage'}, {'predicate': 'subClassOf', 'target': 'AutopodEndochondralElement'}]"
}
|
{
"aliases": null,
"definition": "An autopod endochondral element that is composed primarily of cartilage tissue.",
"id": "AutopodCartilage",
"label": "autopod cartilage",
"logical_definition": null,
"original_id": "UBERON:0015064",
"relationships": null
}
| 0 |
{
"document": "autopod cartilage An autopod endochondral element that is composed primarily of cartilage tissue. None"
}
|
{
"aliases": null,
"definition": "An endochondral element that is part of a autopod region.",
"id": "AutopodEndochondralElement",
"label": "autopod endochondral element",
"logical_definition": null,
"original_id": "UBERON:0015063",
"relationships": [
{
"predicate": "PartOf",
"target": "AutopodialSkeleton"
}
]
}
| 0 |
{
"document": "autopod endochondral element An endochondral element that is part of a autopod region. [{'predicate': 'PartOf', 'target': 'AutopodialSkeleton'}]"
}
|
{
"aliases": null,
"definition": "A strand of hair that is part of a autopod region.",
"id": "AutopodHair",
"label": "autopod hair",
"logical_definition": null,
"original_id": "UBERON:0015144",
"relationships": null
}
| 0 |
{
"document": "autopod hair A strand of hair that is part of a autopod region. None"
}
|
{
"aliases": null,
"definition": "A limb joint that is part of an autopod [Automatically generated definition].",
"id": "AutopodJoint",
"label": "autopod joint",
"logical_definition": null,
"original_id": "UBERON:0003841",
"relationships": null
}
| 0 |
{
"document": "autopod joint A limb joint that is part of an autopod [Automatically generated definition]. None"
}
|
{
"aliases": null,
"definition": "Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot.",
"id": "AutopodRegion",
"label": "autopod region",
"logical_definition": null,
"original_id": "UBERON:0002470",
"relationships": [
{
"predicate": "DevelopsFrom",
"target": "EmbryonicAutopodPlate"
},
{
"predicate": "ContributesToMorphologyOf",
"target": "Limb"
},
{
"predicate": "DistallyConnectedTo",
"target": "Zeugopod"
}
]
}
| 0 |
{
"document": "autopod region Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot. [{'predicate': 'DevelopsFrom', 'target': 'EmbryonicAutopodPlate'}, {'predicate': 'ContributesToMorphologyOf', 'target': 'Limb'}, {'predicate': 'DistallyConnectedTo', 'target': 'Zeugopod'}]"
}
|
{
"aliases": null,
"definition": "A zone of skin that is part of a autopod region.",
"id": "AutopodSkin",
"label": "autopod skin",
"logical_definition": null,
"original_id": "UBERON:0015790",
"relationships": null
}
| 0 |
{
"document": "autopod skin A zone of skin that is part of a autopod region. None"
}
|
{
"aliases": null,
"definition": "A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis.",
"id": "AutopodialExtension",
"label": "autopodial extension",
"logical_definition": null,
"original_id": "UBERON:0005881",
"relationships": [
{
"predicate": "PartOf",
"target": "AutopodRegion"
},
{
"predicate": "subClassOf",
"target": "OrganismSubdivision"
}
]
}
| 0 |
{
"document": "autopodial extension A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. [{'predicate': 'PartOf', 'target': 'AutopodRegion'}, {'predicate': 'subClassOf', 'target': 'OrganismSubdivision'}]"
}
|
{
"aliases": null,
"definition": "The collection of all skeletal elements in an autopodium region.",
"id": "AutopodialSkeleton",
"label": "autopodial skeleton",
"logical_definition": null,
"original_id": "UBERON:0006717",
"relationships": [
{
"predicate": "PartOf",
"target": "AutopodRegion"
},
{
"predicate": "PartOf",
"target": "SkeletonOfLimb"
},
{
"predicate": "ProximallyConnectedTo",
"target": "ZeugopodialSkeleton"
}
]
}
| 0 |
{
"document": "autopodial skeleton The collection of all skeletal elements in an autopodium region. [{'predicate': 'PartOf', 'target': 'AutopodRegion'}, {'predicate': 'PartOf', 'target': 'SkeletonOfLimb'}, {'predicate': 'ProximallyConnectedTo', 'target': 'ZeugopodialSkeleton'}]"
}
|
{
"aliases": null,
"definition": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.",
"id": "AutosomalDominantInheritance",
"label": "Autosomal dominant inheritance",
"logical_definition": null,
"original_id": "HP:0000006",
"relationships": [
{
"predicate": "subClassOf",
"target": "MendelianInheritance"
}
]
}
| 0 |
{
"document": "Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [{'predicate': 'subClassOf', 'target': 'MendelianInheritance'}]"
}
|
{
"aliases": null,
"definition": "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.",
"id": "AutosomalDominantInheritanceWithMaternalImprinting",
"label": "Autosomal dominant inheritance with maternal imprinting",
"logical_definition": null,
"original_id": "HP:0012275",
"relationships": [
{
"predicate": "subClassOf",
"target": "Imprinted"
}
]
}
| 0 |
{
"document": "Autosomal dominant inheritance with maternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. [{'predicate': 'subClassOf', 'target': 'Imprinted'}]"
}
|
{
"aliases": null,
"definition": "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.",
"id": "AutosomalDominantInheritanceWithPaternalImprinting",
"label": "Autosomal dominant inheritance with paternal imprinting",
"logical_definition": null,
"original_id": "HP:0012274",
"relationships": [
{
"predicate": "subClassOf",
"target": "Imprinted"
}
]
}
| 0 |
{
"document": "Autosomal dominant inheritance with paternal imprinting A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. [{'predicate': 'subClassOf', 'target': 'Imprinted'}]"
}
|
{
"aliases": null,
"definition": "Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.",
"id": "AutosomalDominantSomaticCellMutation",
"label": "Autosomal dominant somatic cell mutation",
"logical_definition": null,
"original_id": "HP:0001444",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritanceModifier"
}
]
}
| 0 |
{
"document": "Autosomal dominant somatic cell mutation Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. [{'predicate': 'subClassOf', 'target': 'InheritanceModifier'}]"
}
|
{
"aliases": null,
"definition": "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).",
"id": "AutosomalRecessiveInheritance",
"label": "Autosomal recessive inheritance",
"logical_definition": null,
"original_id": "HP:0000007",
"relationships": [
{
"predicate": "subClassOf",
"target": "MendelianInheritance"
}
]
}
| 0 |
{
"document": "Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [{'predicate': 'subClassOf', 'target': 'MendelianInheritance'}]"
}
|
{
"aliases": null,
"definition": "Any of a group of compounds, both naturally occurring and synthetic, that induce cell elongation in plant stems (from Greek alphaupsilonxialphanuomega, \"to grow\").",
"id": "Auxin",
"label": "auxin",
"logical_definition": null,
"original_id": "CHEBI:22676",
"relationships": [
{
"predicate": "subClassOf",
"target": "PlantHormone"
}
]
}
| 0 |
{
"document": "auxin Any of a group of compounds, both naturally occurring and synthetic, that induce cell elongation in plant stems (from Greek alphaupsilonxialphanuomega, \"to grow\"). [{'predicate': 'subClassOf', 'target': 'PlantHormone'}]"
}
|
{
"aliases": null,
"definition": "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.",
"id": "AvascularNecrosis",
"label": "Avascular necrosis",
"logical_definition": null,
"original_id": "HP:0010885",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMusculoskeletalPhysiology"
}
]
}
| 0 |
{
"document": "Avascular necrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. [{'predicate': 'subClassOf', 'target': 'AbnormalMusculoskeletalPhysiology'}]"
}
|
{
"aliases": null,
"definition": "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.",
"id": "AvascularNecrosisOfTheCapitalFemoralEpiphysis",
"label": "Avascular necrosis of the capital femoral epiphysis",
"logical_definition": null,
"original_id": "HP:0005743",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheFemoralHead"
},
{
"predicate": "subClassOf",
"target": "JuvenileAsepticNecrosis"
}
]
}
| 0 |
{
"document": "Avascular necrosis of the capital femoral epiphysis Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheFemoralHead'}, {'predicate': 'subClassOf', 'target': 'JuvenileAsepticNecrosis'}]"
}
|
{
"aliases": null,
"definition": "Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).",
"id": "AvoidanceOfStimuliAssociatedWithTraumaticEvent",
"label": "Avoidance of stimuli associated with traumatic event",
"logical_definition": null,
"original_id": "HP:0032942",
"relationships": [
{
"predicate": "subClassOf",
"target": "PosttraumaticStressSymptom"
}
]
}
| 0 |
{
"document": "Avoidance of stimuli associated with traumatic event Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). [{'predicate': 'subClassOf', 'target': 'PosttraumaticStressSymptom'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AvoidsEmotionalIntimacy",
"label": "Avoids emotional intimacy",
"logical_definition": null,
"original_id": "HP:5200111",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalInterestInOthers"
},
{
"predicate": "subClassOf",
"target": "AbnormalRelationship"
},
{
"predicate": "subClassOf",
"target": "AbnormalityInEmotionalSocialInteractions"
}
]
}
| 0 |
{
"document": "Avoids emotional intimacy None [{'predicate': 'subClassOf', 'target': 'AbnormalInterestInOthers'}, {'predicate': 'subClassOf', 'target': 'AbnormalRelationship'}, {'predicate': 'subClassOf', 'target': 'AbnormalityInEmotionalSocialInteractions'}]"
}
|
{
"aliases": null,
"definition": "A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma.",
"id": "AvulsionFracture",
"label": "Avulsion fracture",
"logical_definition": null,
"original_id": "HP:4000052",
"relationships": [
{
"predicate": "subClassOf",
"target": "FractureType"
}
]
}
| 0 |
{
"document": "Avulsion fracture A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma. [{'predicate': 'subClassOf', 'target': 'FractureType'}]"
}
|
{
"aliases": null,
"definition": "A fractured quality in which the fragment of bone tears away from the main mass of bone as a result of physical trauma.",
"id": "AvulsionFractured",
"label": "avulsion fractured",
"logical_definition": null,
"original_id": "PATO:0040041",
"relationships": [
{
"predicate": "subClassOf",
"target": "Fractured"
}
]
}
| 0 |
{
"document": "avulsion fractured A fractured quality in which the fragment of bone tears away from the main mass of bone as a result of physical trauma. [{'predicate': 'subClassOf', 'target': 'Fractured'}]"
}
|
{
"aliases": null,
"definition": "A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.",
"id": "AvulsionFracturedEpiphysisOfFemur",
"label": "Avulsion fractured epiphysis of femur",
"logical_definition": null,
"original_id": "HP:0041091",
"relationships": [
{
"predicate": "subClassOf",
"target": "FracturedEpiphysisOfFemur"
}
]
}
| 0 |
{
"document": "Avulsion fractured epiphysis of femur A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. [{'predicate': 'subClassOf', 'target': 'FracturedEpiphysisOfFemur'}]"
}
|
{
"aliases": null,
"definition": "A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.",
"id": "AvulsionFracturedHumerus",
"label": "Avulsion fractured humerus",
"logical_definition": null,
"original_id": "HP:0041088",
"relationships": [
{
"predicate": "subClassOf",
"target": "FracturedHumerus"
}
]
}
| 0 |
{
"document": "Avulsion fractured humerus A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. [{'predicate': 'subClassOf', 'target': 'FracturedHumerus'}]"
}
|
{
"aliases": null,
"definition": "A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.",
"id": "AvulsionFracturedTibia",
"label": "Avulsion fractured tibia",
"logical_definition": null,
"original_id": "HP:0041089",
"relationships": [
{
"predicate": "subClassOf",
"target": "FracturedTibia"
}
]
}
| 0 |
{
"document": "Avulsion fractured tibia A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. [{'predicate': 'subClassOf', 'target': 'FracturedTibia'}]"
}
|
{
"aliases": null,
"definition": "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.",
"id": "AxenfeldAnomaly",
"label": "Axenfeld anomaly",
"logical_definition": null,
"original_id": "HP:0001492",
"relationships": [
{
"predicate": "subClassOf",
"target": "OcularAnteriorSegmentDysgenesis"
}
]
}
| 0 |
{
"document": "Axenfeld anomaly Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. [{'predicate': 'subClassOf', 'target': 'OcularAnteriorSegmentDysgenesis'}]"
}
|
{
"aliases": null,
"definition": "Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.",
"id": "Axial",
"label": "Axial",
"logical_definition": null,
"original_id": "HP:0025287",
"relationships": [
{
"predicate": "subClassOf",
"target": "SpatialPattern"
}
]
}
| 0 |
{
"document": "Axial Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs. [{'predicate': 'subClassOf', 'target': 'SpatialPattern'}]"
}
|
{
"aliases": null,
"definition": "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.",
"id": "AxialDystonia",
"label": "Axial dystonia",
"logical_definition": null,
"original_id": "HP:0002530",
"relationships": [
{
"predicate": "subClassOf",
"target": "Dystonia"
}
]
}
| 0 |
{
"document": "Axial dystonia A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. [{'predicate': 'subClassOf', 'target': 'Dystonia'}]"
}
|
{
"aliases": null,
"definition": "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.",
"id": "AxialHypotonia",
"label": "Axial hypotonia",
"logical_definition": null,
"original_id": "HP:0008936",
"relationships": [
{
"predicate": "subClassOf",
"target": "Hypotonia"
}
]
}
| 0 |
{
"document": "Axial hypotonia Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. [{'predicate': 'subClassOf', 'target': 'Hypotonia'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.",
"id": "AxialMalrotationOfTheKidney",
"label": "Axial malrotation of the kidney",
"logical_definition": null,
"original_id": "HP:0004717",
"relationships": [
{
"predicate": "subClassOf",
"target": "RenalMalrotation"
}
]
}
| 0 |
{
"document": "Axial malrotation of the kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. [{'predicate': 'subClassOf', 'target': 'RenalMalrotation'}]"
}
|
{
"aliases": null,
"definition": "The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord.",
"id": "AxialMesoderm",
"label": "axial mesoderm",
"logical_definition": null,
"original_id": "UBERON:0003068",
"relationships": [
{
"predicate": "PartOf",
"target": "Embryo"
},
{
"predicate": "PartOf",
"target": "Mesoderm"
},
{
"predicate": "DevelopsFrom",
"target": "Mesoderm"
},
{
"predicate": "subClassOf",
"target": "DevelopingAnatomicalStructure"
}
]
}
| 0 |
{
"document": "axial mesoderm The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. [{'predicate': 'PartOf', 'target': 'Embryo'}, {'predicate': 'PartOf', 'target': 'Mesoderm'}, {'predicate': 'DevelopsFrom', 'target': 'Mesoderm'}, {'predicate': 'subClassOf', 'target': 'DevelopingAnatomicalStructure'}]"
}
|
{
"aliases": null,
"definition": "One of the skeletal muscles of the head and neck, spine, and ribs.",
"id": "AxialMuscle",
"label": "axial muscle",
"logical_definition": null,
"original_id": "UBERON:0003897",
"relationships": [
{
"predicate": "PartOf",
"target": "AxialMusculature"
}
]
}
| 0 |
{
"document": "axial muscle One of the skeletal muscles of the head and neck, spine, and ribs. [{'predicate': 'PartOf', 'target': 'AxialMusculature'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AxialMuscleAtrophy",
"label": "Axial muscle atrophy",
"logical_definition": null,
"original_id": "HP:0040287",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAxialMuscleMorphology"
}
]
}
| 0 |
{
"document": "Axial muscle atrophy None [{'predicate': 'subClassOf', 'target': 'AbnormalAxialMuscleMorphology'}]"
}
|
{
"aliases": null,
"definition": "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.",
"id": "AxialMuscleStiffness",
"label": "Axial muscle stiffness",
"logical_definition": null,
"original_id": "HP:0006921",
"relationships": [
{
"predicate": "subClassOf",
"target": "MuscleStiffness"
},
{
"predicate": "subClassOf",
"target": "AbnormalAxialMuscleMorphology"
}
]
}
| 0 |
{
"document": "Axial muscle stiffness Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. [{'predicate': 'subClassOf', 'target': 'MuscleStiffness'}, {'predicate': 'subClassOf', 'target': 'AbnormalAxialMuscleMorphology'}]"
}
|
{
"aliases": null,
"definition": "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).",
"id": "AxialMuscleWeakness",
"label": "Axial muscle weakness",
"logical_definition": null,
"original_id": "HP:0003327",
"relationships": [
{
"predicate": "subClassOf",
"target": "MuscleWeakness"
}
]
}
| 0 |
{
"document": "Axial muscle weakness Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). [{'predicate': 'subClassOf', 'target': 'MuscleWeakness'}]"
}
|
{
"aliases": null,
"definition": "Musculature of the head and neck, spine, and ribs.",
"id": "AxialMusculature",
"label": "axial musculature",
"logical_definition": null,
"original_id": "UBERON:0013700",
"relationships": null
}
| 0 |
{
"document": "axial musculature Musculature of the head and neck, spine, and ribs. None"
}
|
{
"aliases": null,
"definition": "A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.",
"id": "AxialMyopia",
"label": "Axial myopia",
"logical_definition": null,
"original_id": "HP:0031730",
"relationships": [
{
"predicate": "subClassOf",
"target": "Myopia"
}
]
}
| 0 |
{
"document": "Axial myopia A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. [{'predicate': 'subClassOf', 'target': 'Myopia'}]"
}
|
{
"aliases": null,
"definition": "Ossicle that is part of the axial skeleton.",
"id": "AxialOssicle",
"label": "axial ossicle",
"logical_definition": null,
"original_id": "UBERON:0011142",
"relationships": null
}
| 0 |
{
"document": "axial ossicle Ossicle that is part of the axial skeleton. None"
}
|
{
"aliases": null,
"definition": "Subdivision of the skeletal system which consists of the axial skeleton plus associated joints.",
"id": "AxialSkeletalSystem",
"label": "axial skeletal system",
"logical_definition": null,
"original_id": "UBERON:0011137",
"relationships": [
{
"predicate": "HasPart",
"target": "SkeletalJoint"
},
{
"predicate": "HasPart",
"target": "AxialSkeletonPlusCranialSkeleton"
},
{
"predicate": "subClassOf",
"target": "SubdivisionOfSkeletalSystem"
}
]
}
| 0 |
{
"document": "axial skeletal system Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. [{'predicate': 'HasPart', 'target': 'SkeletalJoint'}, {'predicate': 'HasPart', 'target': 'AxialSkeletonPlusCranialSkeleton'}, {'predicate': 'subClassOf', 'target': 'SubdivisionOfSkeletalSystem'}]"
}
|
{
"aliases": null,
"definition": "Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified].",
"id": "AxialSkeletonPlusCranialSkeleton",
"label": "axial skeleton plus cranial skeleton",
"logical_definition": null,
"original_id": "UBERON:0005944",
"relationships": [
{
"predicate": "PartOf",
"target": "Skeleton"
},
{
"predicate": "PartOf",
"target": "AxialSkeletalSystem"
},
{
"predicate": "DevelopsFrom",
"target": "Sclerotome"
},
{
"predicate": "ContributesToMorphologyOf",
"target": "SkeletalSystem"
},
{
"predicate": "subClassOf",
"target": "SubdivisionOfSkeleton"
}
]
}
| 0 |
{
"document": "axial skeleton plus cranial skeleton Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. [{'predicate': 'PartOf', 'target': 'Skeleton'}, {'predicate': 'PartOf', 'target': 'AxialSkeletalSystem'}, {'predicate': 'DevelopsFrom', 'target': 'Sclerotome'}, {'predicate': 'ContributesToMorphologyOf', 'target': 'SkeletalSystem'}, {'predicate': 'subClassOf', 'target': 'SubdivisionOfSkeleton'}]"
}
|
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