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{
"aliases": null,
"definition": "An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.",
"id": "AbnormalDistributionOfCellJunctionProteinsInBuccalMucosalCells",
"label": "Abnormal distribution of cell junction proteins in buccal mucosal cells",
"logical_definition": null,
"original_id": "HP:0410023",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBuccalMucosaCellMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalBuccalMucosaMorphology"
}
]
} | 0 | {
"document": "Abnormal distribution of cell junction proteins in buccal mucosal cells An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. [{'predicate': 'subClassOf', 'target': 'AbnormalBuccalMucosaCellMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalBuccalMucosaMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalDistributionOfRetinalArteriolesAndVenules",
"label": "Abnormal distribution of retinal arterioles and venules",
"logical_definition": null,
"original_id": "HP:0007815",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRetinalVascularMorphology"
}
]
} | 0 | {
"document": "Abnormal distribution of retinal arterioles and venules None [{'predicate': 'subClassOf', 'target': 'AbnormalRetinalVascularMorphology'}]"
} |
{
"aliases": null,
"definition": "The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.",
"id": "AbnormalDollSEyeReflex",
"label": "Abnormal doll's eye reflex",
"logical_definition": null,
"original_id": "HP:0032100",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVestibuloOcularReflex"
}
]
} | 0 | {
"document": "Abnormal doll's eye reflex The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. [{'predicate': 'subClassOf', 'target': 'AbnormalVestibuloOcularReflex'}]"
} |
{
"aliases": null,
"definition": "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.",
"id": "AbnormalDrinkingBehavior",
"label": "Abnormal drinking behavior",
"logical_definition": null,
"original_id": "HP:0030082",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalConsumptionBehavior"
}
]
} | 0 | {
"document": "Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. [{'predicate': 'subClassOf', 'target': 'AbnormalConsumptionBehavior'}]"
} |
{
"aliases": null,
"definition": "An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.",
"id": "AbnormalDrugResponse",
"label": "Abnormal drug response",
"logical_definition": null,
"original_id": "HP:0020169",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMetabolismHomeostasis"
}
]
} | 0 | {
"document": "Abnormal drug response An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the duodenum, i.e., the first section of the small intestine.",
"id": "AbnormalDuodenumMorphology",
"label": "Abnormal duodenum morphology",
"logical_definition": null,
"original_id": "HP:0002246",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSmallIntestineMorphology"
}
]
} | 0 | {
"document": "Abnormal duodenum morphology An abnormality of the duodenum, i.e., the first section of the small intestine. [{'predicate': 'subClassOf', 'target': 'AbnormalSmallIntestineMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the Dura mater.",
"id": "AbnormalDuraMaterMorphology",
"label": "Abnormal dura mater morphology",
"logical_definition": null,
"original_id": "HP:0010652",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMeningealMorphology"
}
]
} | 0 | {
"document": "Abnormal dura mater morphology An abnormality of the Dura mater. [{'predicate': 'subClassOf', 'target': 'AbnormalMeningealMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal rhythm of the heart.",
"id": "AbnormalEKG",
"label": "Abnormal EKG",
"logical_definition": null,
"original_id": "HP:0003115",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfCardiovascularSystemElectrophysiology"
}
]
} | 0 | {
"document": "Abnormal EKG Abnormal rhythm of the heart. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfCardiovascularSystemElectrophysiology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the ear.",
"id": "AbnormalEarMorphology",
"label": "Abnormal ear morphology",
"logical_definition": null,
"original_id": "HP:0031703",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEar"
}
]
} | 0 | {
"document": "Abnormal ear morphology Any structural anomaly of the ear. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEar'}]"
} |
{
"aliases": null,
"definition": "Any functional anomaly of the ear.",
"id": "AbnormalEarPhysiology",
"label": "Abnormal ear physiology",
"logical_definition": null,
"original_id": "HP:0031704",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEar"
}
]
} | 0 | {
"document": "Abnormal ear physiology Any functional anomaly of the ear. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEar'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the lobule of pinna.",
"id": "AbnormalEarlobeMorphology",
"label": "Abnormal earlobe morphology",
"logical_definition": null,
"original_id": "HP:0000363",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPinnaMorphology"
}
]
} | 0 | {
"document": "Abnormal earlobe morphology An abnormality of the lobule of pinna. [{'predicate': 'subClassOf', 'target': 'AbnormalPinnaMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.",
"id": "AbnormalEatingBehavior",
"label": "Abnormal eating behavior",
"logical_definition": null,
"original_id": "HP:0100738",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalConsumptionBehavior"
}
]
} | 0 | {
"document": "Abnormal eating behavior Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. [{'predicate': 'subClassOf', 'target': 'AbnormalConsumptionBehavior'}]"
} |
{
"aliases": null,
"definition": "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.",
"id": "AbnormalEjaculation",
"label": "Abnormal ejaculation",
"logical_definition": null,
"original_id": "HP:0012875",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMaleReproductiveSystemPhysiology"
}
]
} | 0 | {
"document": "Abnormal ejaculation Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. [{'predicate': 'subClassOf', 'target': 'AbnormalMaleReproductiveSystemPhysiology'}]"
} |
{
"aliases": null,
"definition": "Any abnormal increase or reduction in skin elasticity.",
"id": "AbnormalElasticityOfSkin",
"label": "Abnormal elasticity of skin",
"logical_definition": null,
"original_id": "HP:0010647",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfSkinMorphology"
}
]
} | 0 | {
"document": "Abnormal elasticity of skin Any abnormal increase or reduction in skin elasticity. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfSkinMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalElbowMetaphysisMorphology",
"label": "Abnormal elbow metaphysis morphology",
"logical_definition": null,
"original_id": "HP:0003949",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUpperLimbMetaphysisMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheElbow"
}
]
} | 0 | {
"document": "Abnormal elbow metaphysis morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalUpperLimbMetaphysisMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheElbow'}]"
} |
{
"aliases": null,
"definition": "The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.",
"id": "AbnormalElectrooculogram",
"label": "Abnormal electrooculogram",
"logical_definition": null,
"original_id": "HP:0030454",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVisualElectrophysiology"
}
]
} | 0 | {
"document": "Abnormal electrooculogram The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. [{'predicate': 'subClassOf', 'target': 'AbnormalVisualElectrophysiology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.",
"id": "AbnormalElectrophysiologyOfSinoatrialNodeOrigin",
"label": "Abnormal electrophysiology of sinoatrial node origin",
"logical_definition": null,
"original_id": "HP:0011702",
"relationships": [
{
"predicate": "subClassOf",
"target": "Arrhythmia"
}
]
} | 0 | {
"document": "Abnormal electrophysiology of sinoatrial node origin An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. [{'predicate': 'subClassOf', 'target': 'Arrhythmia'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.",
"id": "AbnormalElectroretinogram",
"label": "Abnormal electroretinogram",
"logical_definition": null,
"original_id": "HP:0000512",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVisualElectrophysiology"
}
]
} | 0 | {
"document": "Abnormal electroretinogram Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. [{'predicate': 'subClassOf', 'target': 'AbnormalVisualElectrophysiology'}]"
} |
{
"aliases": null,
"definition": "An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.",
"id": "AbnormalEmbryonicDevelopment",
"label": "Abnormal embryonic development",
"logical_definition": null,
"original_id": "HP:0033334",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfPrenatalDevelopmentOrBirth"
}
]
} | 0 | {
"document": "Abnormal embryonic development An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfPrenatalDevelopmentOrBirth'}]"
} |
{
"aliases": null,
"definition": "An abnormality of emotional behaviour.",
"id": "AbnormalEmotionAffectBehavior",
"label": "Abnormal emotion/affect behavior",
"logical_definition": null,
"original_id": "HP:0100851",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtypicalBehavior"
}
]
} | 0 | {
"document": "Abnormal emotion/affect behavior An abnormality of emotional behaviour. [{'predicate': 'subClassOf', 'target': 'AtypicalBehavior'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.",
"id": "AbnormalEnchondralOssification",
"label": "Abnormal enchondral ossification",
"logical_definition": null,
"original_id": "HP:0003336",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBoneOssification"
}
]
} | 0 | {
"document": "Abnormal enchondral ossification An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. [{'predicate': 'subClassOf', 'target': 'AbnormalBoneOssification'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the endocardium.",
"id": "AbnormalEndocardiumMorphology",
"label": "Abnormal endocardium morphology",
"logical_definition": null,
"original_id": "HP:0004306",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartMorphology"
}
]
} | 0 | {
"document": "Abnormal endocardium morphology An abnormality of the endocardium. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]"
} |
{
"aliases": null,
"definition": "Any anomaly of the structure of an organ ofthe endocrine system.",
"id": "AbnormalEndocrineMorphology",
"label": "Abnormal endocrine morphology",
"logical_definition": null,
"original_id": "HP:0031071",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEndocrineSystem"
}
]
} | 0 | {
"document": "Abnormal endocrine morphology Any anomaly of the structure of an organ ofthe endocrine system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEndocrineSystem'}]"
} |
{
"aliases": null,
"definition": "Any anomaly of the function of the endocrine system.",
"id": "AbnormalEndocrinePhysiology",
"label": "Abnormal endocrine physiology",
"logical_definition": null,
"original_id": "HP:0031072",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEndocrineSystem"
}
]
} | 0 | {
"document": "Abnormal endocrine physiology Any anomaly of the function of the endocrine system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEndocrineSystem'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the inner mucous membrane of the uterus.",
"id": "AbnormalEndometriumMorphology",
"label": "Abnormal endometrium morphology",
"logical_definition": null,
"original_id": "HP:0030126",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUterusMorphology"
}
]
} | 0 | {
"document": "Abnormal endometrium morphology An anomaly of the inner mucous membrane of the uterus. [{'predicate': 'subClassOf', 'target': 'AbnormalUterusMorphology'}]"
} |
{
"aliases": null,
"definition": "Any anomaly in the utilization of energy (calories).",
"id": "AbnormalEnergyExpenditure",
"label": "Abnormal energy expenditure",
"logical_definition": null,
"original_id": "HP:0012338",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHomeostasis"
}
]
} | 0 | {
"document": "Abnormal energy expenditure Any anomaly in the utilization of energy (calories). [{'predicate': 'subClassOf', 'target': 'AbnormalHomeostasis'}]"
} |
{
"aliases": null,
"definition": "Deviation from the normal activity of an enzyme in muscle tissue.",
"id": "AbnormalEnzymeActivityInMuscleTissue",
"label": "Abnormal enzyme activity in muscle tissue",
"logical_definition": null,
"original_id": "HP:0034526",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingEnzymeConcentrationOrActivity"
}
]
} | 0 | {
"document": "Abnormal enzyme activity in muscle tissue Deviation from the normal activity of an enzyme in muscle tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]"
} |
{
"aliases": null,
"definition": "Concentration or activity of an enzyme is above or below the limits of normal.",
"id": "AbnormalEnzymeConcentrationOrActivity",
"label": "Abnormal enzyme concentration or activity",
"logical_definition": null,
"original_id": "HP:0034684",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMetabolismHomeostasis"
}
]
} | 0 | {
"document": "Abnormal enzyme concentration or activity Concentration or activity of an enzyme is above or below the limits of normal. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal number of eosinophils per volume in the blood circulation.",
"id": "AbnormalEosinophilCount",
"label": "Abnormal eosinophil count",
"logical_definition": null,
"original_id": "HP:0020064",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEosinophilMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalGranulocyteCount"
}
]
} | 0 | {
"document": "Abnormal eosinophil count Any deviation from the normal number of eosinophils per volume in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalEosinophilMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalGranulocyteCount'}]"
} |
{
"aliases": null,
"definition": "An abnormal count or structure of eosinophils.",
"id": "AbnormalEosinophilMorphology",
"label": "Abnormal eosinophil morphology",
"logical_definition": null,
"original_id": "HP:0001879",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGranulocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal eosinophil morphology An abnormal count or structure of eosinophils. [{'predicate': 'subClassOf', 'target': 'AbnormalGranulocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the morphology of the epidermis.",
"id": "AbnormalEpidermalMorphology",
"label": "Abnormal epidermal morphology",
"logical_definition": null,
"original_id": "HP:0011124",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfSkinMorphology"
}
]
} | 0 | {
"document": "Abnormal epidermal morphology An abnormality of the morphology of the epidermis. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfSkinMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalEpidermalProteinExpression",
"label": "Abnormal epidermal protein expression",
"logical_definition": null,
"original_id": "HP:0034573",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEpidermalMorphology"
}
]
} | 0 | {
"document": "Abnormal epidermal protein expression None [{'predicate': 'subClassOf', 'target': 'AbnormalEpidermalMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.",
"id": "AbnormalEpidermisStratumGranulosumMorphology",
"label": "Abnormal epidermis stratum granulosum morphology",
"logical_definition": null,
"original_id": "HP:0033806",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEpidermalMorphology"
}
]
} | 0 | {
"document": "Abnormal epidermis stratum granulosum morphology An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum. [{'predicate': 'subClassOf', 'target': 'AbnormalEpidermalMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the epididymis.",
"id": "AbnormalEpididymisMorphology",
"label": "Abnormal epididymis morphology",
"logical_definition": null,
"original_id": "HP:0009714",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMaleInternalGenitaliaMorphology"
}
]
} | 0 | {
"document": "Abnormal epididymis morphology An abnormality of the epididymis. [{'predicate': 'subClassOf', 'target': 'AbnormalMaleInternalGenitaliaMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the epiglottis.",
"id": "AbnormalEpiglottisMorphology",
"label": "Abnormal epiglottis morphology",
"logical_definition": null,
"original_id": "HP:0005483",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLarynxMorphology"
}
]
} | 0 | {
"document": "Abnormal epiglottis morphology An abnormality of the epiglottis. [{'predicate': 'subClassOf', 'target': 'AbnormalLarynxMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the formation and mineralization of an epiphysis.",
"id": "AbnormalEpiphysealOssification",
"label": "Abnormal epiphyseal ossification",
"logical_definition": null,
"original_id": "HP:0010656",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEnchondralOssification"
}
]
} | 0 | {
"document": "Abnormal epiphyseal ossification An abnormality of the formation and mineralization of an epiphysis. [{'predicate': 'subClassOf', 'target': 'AbnormalEnchondralOssification'}]"
} |
{
"aliases": null,
"definition": "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.",
"id": "AbnormalEpiphysisMorphology",
"label": "Abnormal epiphysis morphology",
"logical_definition": null,
"original_id": "HP:0005930",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLongBoneMorphology"
}
]
} | 0 | {
"document": "Abnormal epiphysis morphology An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. [{'predicate': 'subClassOf', 'target': 'AbnormalLongBoneMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).",
"id": "AbnormalEpiphysisMorphologyOfThePhalangesOfTheHand",
"label": "Abnormal epiphysis morphology of the phalanges of the hand",
"logical_definition": null,
"original_id": "HP:0005920",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFingerPhalanxMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalHandEpiphysisMorphology"
}
]
} | 0 | {
"document": "Abnormal epiphysis morphology of the phalanges of the hand Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [{'predicate': 'subClassOf', 'target': 'AbnormalFingerPhalanxMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHandEpiphysisMorphology'}]"
} |
{
"aliases": null,
"definition": "Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.",
"id": "AbnormalErythrocyteAdenosineTriphosphateConcentration",
"label": "Abnormal erythrocyte adenosine triphosphate concentration",
"logical_definition": null,
"original_id": "HP:4000183",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalErythrocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal erythrocyte adenosine triphosphate concentration Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.",
"id": "AbnormalErythrocyteEnzymeLevel",
"label": "Abnormal erythrocyte enzyme level",
"logical_definition": null,
"original_id": "HP:0030272",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalErythrocyteMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingEnzymeConcentrationOrActivity"
}
]
} | 0 | {
"document": "Abnormal erythrocyte enzyme level An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal range of a metabolite in red blood cells.",
"id": "AbnormalErythrocyteMetaboliteConcentration",
"label": "Abnormal erythrocyte metabolite concentration",
"logical_definition": null,
"original_id": "HP:0034737",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalErythrocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal erythrocyte metabolite concentration A deviation from the normal range of a metabolite in red blood cells. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of erythrocytes (red-blood cells).",
"id": "AbnormalErythrocyteMorphology",
"label": "Abnormal erythrocyte morphology",
"logical_definition": null,
"original_id": "HP:0001877",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBloodAndBloodFormingTissues"
}
]
} | 0 | {
"document": "Abnormal erythrocyte morphology Any structural abnormality of erythrocytes (red-blood cells). [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodAndBloodFormingTissues'}]"
} |
{
"aliases": null,
"definition": "Any functional abnormality of erythrocytes (red-blood cells).",
"id": "AbnormalErythrocytePhysiology",
"label": "Abnormal erythrocyte physiology",
"logical_definition": null,
"original_id": "HP:0020054",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBloodAndBloodFormingTissues"
}
]
} | 0 | {
"document": "Abnormal erythrocyte physiology Any functional abnormality of erythrocytes (red-blood cells). [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodAndBloodFormingTissues'}]"
} |
{
"aliases": null,
"definition": "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.",
"id": "AbnormalErythrocyteSedimentationRate",
"label": "Abnormal erythrocyte sedimentation rate",
"logical_definition": null,
"original_id": "HP:0025021",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMetabolismHomeostasis"
}
]
} | 0 | {
"document": "Abnormal erythrocyte sedimentation rate A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}]"
} |
{
"aliases": null,
"definition": "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.",
"id": "AbnormalErythroidLineageCellMorphology",
"label": "Abnormal erythroid lineage cell morphology",
"logical_definition": null,
"original_id": "HP:0012130",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMyeloidCellMorphology"
}
]
} | 0 | {
"document": "Abnormal erythroid lineage cell morphology An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalMyeloidCellMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural abnormality of the esophagus.",
"id": "AbnormalEsophagusMorphology",
"label": "Abnormal esophagus morphology",
"logical_definition": null,
"original_id": "HP:0002031",
"relationships": [
{
"predicate": "subClassOf",
"target": "MorphologicalAbnormalityOfTheGastrointestinalTract"
}
]
} | 0 | {
"document": "Abnormal esophagus morphology A structural abnormality of the esophagus. [{'predicate': 'subClassOf', 'target': 'MorphologicalAbnormalityOfTheGastrointestinalTract'}]"
} |
{
"aliases": null,
"definition": "Any physiological abnormality of the esophagus.",
"id": "AbnormalEsophagusPhysiology",
"label": "Abnormal esophagus physiology",
"logical_definition": null,
"original_id": "HP:0025270",
"relationships": [
{
"predicate": "subClassOf",
"target": "FunctionalAbnormalityOfTheGastrointestinalTract"
}
]
} | 0 | {
"document": "Abnormal esophagus physiology Any physiological abnormality of the esophagus. [{'predicate': 'subClassOf', 'target': 'FunctionalAbnormalityOfTheGastrointestinalTract'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.",
"id": "AbnormalEsterifiedToFreeCarnitineRatio",
"label": "Abnormal esterified to free carnitine ratio",
"logical_definition": null,
"original_id": "HP:0033502",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingAcetylcarnitineConcentration"
}
]
} | 0 | {
"document": "Abnormal esterified to free carnitine ratio Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingAcetylcarnitineConcentration'}]"
} |
{
"aliases": null,
"definition": "The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent.",
"id": "AbnormalEstermanGridPerimetryTest",
"label": "Abnormal Esterman grid perimetry test",
"logical_definition": null,
"original_id": "HP:0030599",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalStaticAutomatedPerimetryTest"
}
]
} | 0 | {
"document": "Abnormal Esterman grid perimetry test The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent. [{'predicate': 'subClassOf', 'target': 'AbnormalStaticAutomatedPerimetryTest'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the ethmoid bone",
"id": "AbnormalEthmoidBoneMorphology",
"label": "Abnormal ethmoid bone morphology",
"logical_definition": null,
"original_id": "HP:0430005",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFacialSkeletonMorphology"
}
]
} | 0 | {
"document": "Abnormal ethmoid bone morphology An abnormality of the ethmoid bone [{'predicate': 'subClassOf', 'target': 'AbnormalFacialSkeletonMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.",
"id": "AbnormalEustachianTubeMorphology",
"label": "Abnormal Eustachian tube morphology",
"logical_definition": null,
"original_id": "HP:0040115",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMiddleEar"
}
]
} | 0 | {
"document": "Abnormal Eustachian tube morphology A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMiddleEar'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalExternalGenitalia",
"label": "Abnormal external genitalia",
"logical_definition": null,
"original_id": "HP:0000811",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalReproductiveSystemMorphology"
}
]
} | 0 | {
"document": "Abnormal external genitalia None [{'predicate': 'subClassOf', 'target': 'AbnormalReproductiveSystemMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the external nose.",
"id": "AbnormalExternalNoseMorphology",
"label": "Abnormal external nose morphology",
"logical_definition": null,
"original_id": "HP:0010938",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNasalMorphology"
}
]
} | 0 | {
"document": "Abnormal external nose morphology An abnormality of the external nose. [{'predicate': 'subClassOf', 'target': 'AbnormalNasalMorphology'}]"
} |
{
"aliases": null,
"definition": "A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.",
"id": "AbnormalExteroceptiveSensation",
"label": "Abnormal exteroceptive sensation",
"logical_definition": null,
"original_id": "HP:0033747",
"relationships": [
{
"predicate": "subClassOf",
"target": "SomaticSensoryDysfunction"
}
]
} | 0 | {
"document": "Abnormal exteroceptive sensation A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. [{'predicate': 'subClassOf', 'target': 'SomaticSensoryDysfunction'}]"
} |
{
"aliases": null,
"definition": "A functional anomaly of the muscles of the eye.",
"id": "AbnormalExtraocularMusclePhysiology",
"label": "Abnormal extraocular muscle physiology",
"logical_definition": null,
"original_id": "HP:0025590",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEyePhysiology"
}
]
} | 0 | {
"document": "Abnormal extraocular muscle physiology A functional anomaly of the muscles of the eye. [{'predicate': 'subClassOf', 'target': 'AbnormalEyePhysiology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.",
"id": "AbnormalEyeContact",
"label": "Abnormal eye contact",
"logical_definition": null,
"original_id": "HP:0034435",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNonverbalCommunicativeBehavior"
}
]
} | 0 | {
"document": "Abnormal eye contact Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms. [{'predicate': 'subClassOf', 'target': 'AbnormalNonverbalCommunicativeBehavior'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the globe of the eye, or bulbus oculi.",
"id": "AbnormalEyeMorphology",
"label": "Abnormal eye morphology",
"logical_definition": null,
"original_id": "HP:0012372",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEye"
}
]
} | 0 | {
"document": "Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEye'}]"
} |
{
"aliases": null,
"definition": "A functional anomaly of the eye.",
"id": "AbnormalEyePhysiology",
"label": "Abnormal eye physiology",
"logical_definition": null,
"original_id": "HP:0012373",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEye"
}
]
} | 0 | {
"document": "Abnormal eye physiology A functional anomaly of the eye. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEye'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the eyebrow.",
"id": "AbnormalEyebrowMorphology",
"label": "Abnormal eyebrow morphology",
"logical_definition": null,
"original_id": "HP:0000534",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHairMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalOcularAdnexaMorphology"
}
]
} | 0 | {
"document": "Abnormal eyebrow morphology An abnormality of the eyebrow. [{'predicate': 'subClassOf', 'target': 'AbnormalHairMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalOcularAdnexaMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the eyelashes.",
"id": "AbnormalEyelashMorphology",
"label": "Abnormal eyelash morphology",
"logical_definition": null,
"original_id": "HP:0000499",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEyelidMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalHairMorphology"
}
]
} | 0 | {
"document": "Abnormal eyelash morphology An abnormality of the eyelashes. [{'predicate': 'subClassOf', 'target': 'AbnormalEyelidMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHairMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the eyelids.",
"id": "AbnormalEyelidMorphology",
"label": "Abnormal eyelid morphology",
"logical_definition": null,
"original_id": "HP:0000492",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalOcularAdnexaMorphology"
}
]
} | 0 | {
"document": "Abnormal eyelid morphology An abnormality of the eyelids. [{'predicate': 'subClassOf', 'target': 'AbnormalOcularAdnexaMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality in voluntary or involuntary eyelid movements or their control.",
"id": "AbnormalEyelidMovement",
"label": "Abnormal eyelid movement",
"logical_definition": null,
"original_id": "HP:0031785",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEyelidPhysiology"
}
]
} | 0 | {
"document": "Abnormal eyelid movement An abnormality in voluntary or involuntary eyelid movements or their control. [{'predicate': 'subClassOf', 'target': 'AbnormalEyelidPhysiology'}]"
} |
{
"aliases": null,
"definition": "Any functional abnormality of the eyelid.",
"id": "AbnormalEyelidPhysiology",
"label": "Abnormal eyelid physiology",
"logical_definition": null,
"original_id": "HP:0031879",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalOcularAdnexaPhysiology"
}
]
} | 0 | {
"document": "Abnormal eyelid physiology Any functional abnormality of the eyelid. [{'predicate': 'subClassOf', 'target': 'AbnormalOcularAdnexaPhysiology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of a facial artery, one of the branches of the external carotid artery.",
"id": "AbnormalFacialArteryMorphology",
"label": "Abnormal facial artery morphology",
"logical_definition": null,
"original_id": "HP:3000024",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSystemicArterialMorphology"
}
]
} | 0 | {
"document": "Abnormal facial artery morphology Any structural abnormality of a facial artery, one of the branches of the external carotid artery. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalFacialExpression",
"label": "Abnormal facial expression",
"logical_definition": null,
"original_id": "HP:0005346",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheFace"
}
]
} | 0 | {
"document": "Abnormal facial expression None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheFace'}]"
} |
{
"aliases": null,
"definition": "An abnormal morphology (form) of the face or its components.",
"id": "AbnormalFacialShape",
"label": "Abnormal facial shape",
"logical_definition": null,
"original_id": "HP:0001999",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheFace"
}
]
} | 0 | {
"document": "Abnormal facial shape An abnormal morphology (form) of the face or its components. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheFace'}]"
} |
{
"aliases": null,
"definition": "An abnormality of one or more of the set of bones that make up the facial skeleton.",
"id": "AbnormalFacialSkeletonMorphology",
"label": "Abnormal facial skeleton morphology",
"logical_definition": null,
"original_id": "HP:0011821",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkullMorphology"
}
]
} | 0 | {
"document": "Abnormal facial skeleton morphology An abnormality of one or more of the set of bones that make up the facial skeleton. [{'predicate': 'subClassOf', 'target': 'AbnormalSkullMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of a facial vein.",
"id": "AbnormalFacialVeinMorphology",
"label": "Abnormal facial vein morphology",
"logical_definition": null,
"original_id": "HP:3000043",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVenousMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalHeadBloodVesselMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalNeckBloodVesselMorphology"
}
]
} | 0 | {
"document": "Abnormal facial vein morphology An abnormality of a facial vein. [{'predicate': 'subClassOf', 'target': 'AbnormalVenousMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHeadBloodVesselMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalNeckBloodVesselMorphology'}]"
} |
{
"aliases": null,
"definition": "Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.",
"id": "AbnormalFacilityInOpposingTheShoulders",
"label": "Abnormal facility in opposing the shoulders",
"logical_definition": null,
"original_id": "HP:0005259",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRibCageMorphology"
}
]
} | 0 | {
"document": "Abnormal facility in opposing the shoulders Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest. [{'predicate': 'subClassOf', 'target': 'AbnormalRibCageMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.",
"id": "AbnormalFactorIXActivity",
"label": "Abnormal factor IX activity",
"logical_definition": null,
"original_id": "HP:0033062",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheIntrinsicPathway"
}
]
} | 0 | {
"document": "Abnormal factor IX activity Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheIntrinsicPathway'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.",
"id": "AbnormalFactorVIIIActivity",
"label": "Abnormal factor VIII activity",
"logical_definition": null,
"original_id": "HP:0030976",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheIntrinsicPathway"
}
]
} | 0 | {
"document": "Abnormal factor VIII activity A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheIntrinsicPathway'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the fallopian tube.",
"id": "AbnormalFallopianTubeMorphology",
"label": "Abnormal fallopian tube morphology",
"logical_definition": null,
"original_id": "HP:0011027",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMorphologyOfFemaleInternalGenitalia"
}
]
} | 0 | {
"document": "Abnormal fallopian tube morphology An abnormality of the fallopian tube. [{'predicate': 'subClassOf', 'target': 'AbnormalMorphologyOfFemaleInternalGenitalia'}]"
} |
{
"aliases": null,
"definition": "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.",
"id": "AbnormalFearAnxietyRelatedBehavior",
"label": "Abnormal fear/anxiety-related behavior",
"logical_definition": null,
"original_id": "HP:0100852",
"relationships": [
{
"predicate": "subClassOf",
"target": "ImpairmentInPersonalityFunctioning"
}
]
} | 0 | {
"document": "Abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. [{'predicate': 'subClassOf', 'target': 'ImpairmentInPersonalityFunctioning'}]"
} |
{
"aliases": null,
"definition": "Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.",
"id": "AbnormalFecalOsmolality",
"label": "Abnormal fecal osmolality",
"logical_definition": null,
"original_id": "HP:0032485",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalStoolComposition"
}
]
} | 0 | {
"document": "Abnormal fecal osmolality Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. [{'predicate': 'subClassOf', 'target': 'AbnormalStoolComposition'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.",
"id": "AbnormalFecalPH",
"label": "Abnormal fecal pH",
"logical_definition": null,
"original_id": "HP:0032488",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalStoolComposition"
}
]
} | 0 | {
"document": "Abnormal fecal pH Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. [{'predicate': 'subClassOf', 'target': 'AbnormalStoolComposition'}]"
} |
{
"aliases": null,
"definition": "Anomalous oocyte meiosis",
"id": "AbnormalFemaleMeiosis",
"label": "Abnormal female meiosis",
"logical_definition": null,
"original_id": "HP:0033338",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMeiosis"
}
]
} | 0 | {
"document": "Abnormal female meiosis Anomalous oocyte meiosis [{'predicate': 'subClassOf', 'target': 'AbnormalMeiosis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalFemaleReproductiveSystemPhysiology",
"label": "Abnormal female reproductive system physiology",
"logical_definition": null,
"original_id": "HP:0030012",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfReproductiveSystemPhysiology"
}
]
} | 0 | {
"document": "Abnormal female reproductive system physiology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfReproductiveSystemPhysiology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of a growth plate of a femur.",
"id": "AbnormalFemoralEpiphysisMorphology",
"label": "Abnormal femoral epiphysis morphology",
"logical_definition": null,
"original_id": "HP:0006499",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfFemurMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfLowerLimbEpiphysisMorphology"
}
]
} | 0 | {
"document": "Abnormal femoral epiphysis morphology An anomaly of a growth plate of a femur. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFemurMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfLowerLimbEpiphysisMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the femoral head.",
"id": "AbnormalFemoralHeadMorphology",
"label": "Abnormal femoral head morphology",
"logical_definition": null,
"original_id": "HP:0003368",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFemoralNeckHeadMorphology"
}
]
} | 0 | {
"document": "Abnormal femoral head morphology An abnormality of the femoral head. [{'predicate': 'subClassOf', 'target': 'AbnormalFemoralNeckHeadMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the femoral metaphysis.",
"id": "AbnormalFemoralMetaphysisMorphology",
"label": "Abnormal femoral metaphysis morphology",
"logical_definition": null,
"original_id": "HP:0006489",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfFemurMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLowerLimbMetaphysisMorphology"
}
]
} | 0 | {
"document": "Abnormal femoral metaphysis morphology An anomaly of the femoral metaphysis. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFemurMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLowerLimbMetaphysisMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalFemoralNeckHeadMorphology",
"label": "Abnormal femoral neck/head morphology",
"logical_definition": null,
"original_id": "HP:0003366",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfFemurMorphology"
}
]
} | 0 | {
"document": "Abnormal femoral neck/head morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFemurMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).",
"id": "AbnormalFemoralNeckMorphology",
"label": "Abnormal femoral neck morphology",
"logical_definition": null,
"original_id": "HP:0003367",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFemoralNeckHeadMorphology"
}
]
} | 0 | {
"document": "Abnormal femoral neck morphology An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [{'predicate': 'subClassOf', 'target': 'AbnormalFemoralNeckHeadMorphology'}]"
} |
{
"aliases": null,
"definition": "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.",
"id": "AbnormalFemoralTorsion",
"label": "Abnormal femoral torsion",
"logical_definition": null,
"original_id": "HP:0031069",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfFemurMorphology"
}
]
} | 0 | {
"document": "Abnormal femoral torsion Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFemurMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.",
"id": "AbnormalFetalCardiovascularMorphology",
"label": "Abnormal fetal cardiovascular morphology",
"logical_definition": null,
"original_id": "HP:0010948",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfCardiovascularSystemMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFetalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal cardiovascular morphology A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfCardiovascularSystemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFetalMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal functionality of the fetal cardiovascular system.",
"id": "AbnormalFetalCardiovascularPhysiology",
"label": "Abnormal fetal cardiovascular physiology",
"logical_definition": null,
"original_id": "HP:0034190",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiovascularSystemPhysiology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFetalPhysiology"
}
]
} | 0 | {
"document": "Abnormal fetal cardiovascular physiology Abnormal functionality of the fetal cardiovascular system. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiovascularSystemPhysiology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFetalPhysiology'}]"
} |
{
"aliases": null,
"definition": "An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.",
"id": "AbnormalFetalCentralNervousSystemMorphology",
"label": "Abnormal fetal central nervous system morphology",
"logical_definition": null,
"original_id": "HP:0034206",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal central nervous system morphology An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.",
"id": "AbnormalFetalGastrointestinalSystemMorphology",
"label": "Abnormal fetal gastrointestinal system morphology",
"logical_definition": null,
"original_id": "HP:0034207",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal gastrointestinal system morphology An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.",
"id": "AbnormalFetalGenitourinarySystemMorphology",
"label": "Abnormal fetal genitourinary system morphology",
"logical_definition": null,
"original_id": "HP:0034242",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal genitourinary system morphology An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalMorphology'}]"
} |
{
"aliases": null,
"definition": "A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.",
"id": "AbnormalFetalHeartOutflowTract",
"label": "Abnormal fetal heart outflow tract",
"logical_definition": null,
"original_id": "HP:4000143",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalCardiovascularMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal heart outflow tract A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalCardiovascularMorphology'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.",
"id": "AbnormalFetalLongBoneEchogenicity",
"label": "Abnormal fetal long-bone echogenicity",
"logical_definition": null,
"original_id": "HP:0034072",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalSkeletalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal long-bone echogenicity Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalSkeletalMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the fetus.",
"id": "AbnormalFetalMorphology",
"label": "Abnormal fetal morphology",
"logical_definition": null,
"original_id": "HP:0034058",
"relationships": [
{
"predicate": "subClassOf",
"target": "FetalAnomaly"
}
]
} | 0 | {
"document": "Abnormal fetal morphology Any structural anomaly of the fetus. [{'predicate': 'subClassOf', 'target': 'FetalAnomaly'}]"
} |
{
"aliases": null,
"definition": "Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.",
"id": "AbnormalFetalNasalBoneVisualization",
"label": "Abnormal fetal nasal bone visualization",
"logical_definition": null,
"original_id": "HP:0025705",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalSkeletalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal nasal bone visualization Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalSkeletalMorphology'}]"
} |
{
"aliases": null,
"definition": "Any functional anomaly of the fetus.",
"id": "AbnormalFetalPhysiology",
"label": "Abnormal fetal physiology",
"logical_definition": null,
"original_id": "HP:0034059",
"relationships": [
{
"predicate": "subClassOf",
"target": "FetalAnomaly"
}
]
} | 0 | {
"document": "Abnormal fetal physiology Any functional anomaly of the fetus. [{'predicate': 'subClassOf', 'target': 'FetalAnomaly'}]"
} |
{
"aliases": null,
"definition": "An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.",
"id": "AbnormalFetalPulmonaryMorphology",
"label": "Abnormal fetal pulmonary morphology",
"logical_definition": null,
"original_id": "HP:0034243",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal pulmonary morphology An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.",
"id": "AbnormalFetalSkeletalMorphology",
"label": "Abnormal fetal skeletal morphology",
"logical_definition": null,
"original_id": "HP:0025662",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFetalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal skeletal morphology An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFetalMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.",
"id": "AbnormalFetalSkinMorphology",
"label": "Abnormal fetal skin morphology",
"logical_definition": null,
"original_id": "HP:0025723",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfSkinMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFetalMorphology"
}
]
} | 0 | {
"document": "Abnormal fetal skin morphology Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfSkinMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFetalMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalFibularEpiphysisMorphology",
"label": "Abnormal fibular epiphysis morphology",
"logical_definition": null,
"original_id": "HP:0010593",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfLowerLimbEpiphysisMorphology"
}
]
} | 0 | {
"document": "Abnormal fibular epiphysis morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLowerLimbEpiphysisMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the fifth cranial nerve.",
"id": "AbnormalFifthCranialNerveMorphology",
"label": "Abnormal fifth cranial nerve morphology",
"logical_definition": null,
"original_id": "HP:0010824",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCranialNerveMorphology"
}
]
} | 0 | {
"document": "Abnormal fifth cranial nerve morphology Any structural abnormality of the fifth cranial nerve. [{'predicate': 'subClassOf', 'target': 'AbnormalCranialNerveMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalFifthCranialNervePhysiology",
"label": "Abnormal fifth cranial nerve physiology",
"logical_definition": null,
"original_id": "HP:0031911",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCranialNervePhysiology"
}
]
} | 0 | {
"document": "Abnormal fifth cranial nerve physiology None [{'predicate': 'subClassOf', 'target': 'AbnormalCranialNervePhysiology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the little toe.",
"id": "AbnormalFifthToeMorphology",
"label": "Abnormal fifth toe morphology",
"logical_definition": null,
"original_id": "HP:0010322",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalToeMorphology"
}
]
} | 0 | {
"document": "Abnormal fifth toe morphology An anomaly of the little toe. [{'predicate': 'subClassOf', 'target': 'AbnormalToeMorphology'}]"
} |
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