0
dict | 1
float64 0
0
| 2
dict |
|---|---|---|
{
"aliases": null,
"definition": "An abnormality affecting one or both 5th fingers.",
"id": "Abnormal5thFingerMorphology",
"label": "Abnormal 5th finger morphology",
"logical_definition": null,
"original_id": "HP:0004207",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFingerMorphology"
}
]
} | 0 | {
"document": "Abnormal 5th finger morphology An abnormality affecting one or both 5th fingers. [{'predicate': 'subClassOf', 'target': 'AbnormalFingerMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormality of the phalanges of the 5th (little) finger.",
"id": "Abnormal5thFingerPhalanxMorphology",
"label": "Abnormal 5th finger phalanx morphology",
"logical_definition": null,
"original_id": "HP:0004213",
"relationships": [
{
"predicate": "subClassOf",
"target": "Abnormal5thFingerMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFingerPhalanxMorphology"
}
]
} | 0 | {
"document": "Abnormal 5th finger phalanx morphology Abnormality of the phalanges of the 5th (little) finger. [{'predicate': 'subClassOf', 'target': 'Abnormal5thFingerMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFingerPhalanxMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of the fifth metacarpal bone.",
"id": "Abnormal5thMetacarpalMorphology",
"label": "Abnormal 5th metacarpal morphology",
"logical_definition": null,
"original_id": "HP:0010013",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetacarpalMorphology"
}
]
} | 0 | {
"document": "Abnormal 5th metacarpal morphology Any abnormality of the fifth metacarpal bone. [{'predicate': 'subClassOf', 'target': 'AbnormalMetacarpalMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.",
"id": "AbnormalAbdomenMorphology",
"label": "Abnormal abdomen morphology",
"logical_definition": null,
"original_id": "HP:0001438",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheDigestiveSystem"
}
]
} | 0 | {
"document": "Abnormal abdomen morphology A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheDigestiveSystem'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.",
"id": "AbnormalAcetabulumMorphology",
"label": "Abnormal acetabulum morphology",
"logical_definition": null,
"original_id": "HP:0003170",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHipJointMorphology"
}
]
} | 0 | {
"document": "Abnormal acetabulum morphology An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. [{'predicate': 'subClassOf', 'target': 'AbnormalHipJointMorphology'}]"
} |
{
"aliases": null,
"definition": "An increased or decreased activity of the mitochondrial respiratory chain.",
"id": "AbnormalActivityOfMitochondrialRespiratoryChain",
"label": "Abnormal activity of mitochondrial respiratory chain",
"logical_definition": null,
"original_id": "HP:0011922",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMitochondrialMetabolism"
}
]
} | 0 | {
"document": "Abnormal activity of mitochondrial respiratory chain An increased or decreased activity of the mitochondrial respiratory chain. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMitochondrialMetabolism'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.",
"id": "AbnormalAdiponectinLevel",
"label": "Abnormal adiponectin level",
"logical_definition": null,
"original_id": "HP:0030684",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingHormoneConcentration"
}
]
} | 0 | {
"document": "Abnormal adiponectin level A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingHormoneConcentration'}]"
} |
{
"aliases": null,
"definition": "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.",
"id": "AbnormalAdiposeTissueMorphology",
"label": "Abnormal adipose tissue morphology",
"logical_definition": null,
"original_id": "HP:0009124",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfConnectiveTissue"
}
]
} | 0 | {
"document": "Abnormal adipose tissue morphology An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfConnectiveTissue'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAggressive_impulsiveOrViolentBehavior",
"label": "Abnormal aggressive, impulsive or violent behavior",
"logical_definition": null,
"original_id": "HP:0006919",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEmotionAffectBehavior"
}
]
} | 0 | {
"document": "Abnormal aggressive, impulsive or violent behavior None [{'predicate': 'subClassOf', 'target': 'AbnormalEmotionAffectBehavior'}]"
} |
{
"aliases": null,
"definition": "A structuraly anomaly of T cells that express an alpha-beta T cell receptor.",
"id": "AbnormalAlphaBetaTCellMorphology",
"label": "Abnormal alpha-beta T cell morphology",
"logical_definition": null,
"original_id": "HP:0030333",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTCellMorphology"
}
]
} | 0 | {
"document": "Abnormal alpha-beta T cell morphology A structuraly anomaly of T cells that express an alpha-beta T cell receptor. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellMorphology'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.",
"id": "AbnormalAlphaGranuleContent",
"label": "Abnormal alpha granule content",
"logical_definition": null,
"original_id": "HP:0012527",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAlphaGranules"
}
]
} | 0 | {
"document": "Abnormal alpha granule content A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. [{'predicate': 'subClassOf', 'target': 'AbnormalAlphaGranules'}]"
} |
{
"aliases": null,
"definition": "An anomalous location and arrangement of platelet alpha granules.",
"id": "AbnormalAlphaGranuleDistribution",
"label": "Abnormal alpha granule distribution",
"logical_definition": null,
"original_id": "HP:0012525",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAlphaGranules"
}
]
} | 0 | {
"document": "Abnormal alpha granule distribution An anomalous location and arrangement of platelet alpha granules. [{'predicate': 'subClassOf', 'target': 'AbnormalAlphaGranules'}]"
} |
{
"aliases": null,
"definition": "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.",
"id": "AbnormalAlphaGranules",
"label": "Abnormal alpha granules",
"logical_definition": null,
"original_id": "HP:0012483",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPlateletGranules"
}
]
} | 0 | {
"document": "Abnormal alpha granules Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletGranules'}]"
} |
{
"aliases": null,
"definition": "Activity of the enzyme alpha-L-fucosidase outside the limits of normal.",
"id": "AbnormalAlphaLFucosidaseActivity",
"label": "Abnormal alpha-L-fucosidase activity",
"logical_definition": null,
"original_id": "HP:0034728",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingEnzymeConcentrationOrActivity"
}
]
} | 0 | {
"document": "Abnormal alpha-L-fucosidase activity Activity of the enzyme alpha-L-fucosidase outside the limits of normal. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]"
} |
{
"aliases": null,
"definition": "Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.",
"id": "AbnormalAlveolarMacrophageMorphology",
"label": "Abnormal alveolar macrophage morphology",
"logical_definition": null,
"original_id": "HP:0032984",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCellularCompositionOfBronchoalveolarFluid"
}
]
} | 0 | {
"document": "Abnormal alveolar macrophage morphology Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. [{'predicate': 'subClassOf', 'target': 'AbnormalCellularCompositionOfBronchoalveolarFluid'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of alveolar type 2 (ATII) cells.",
"id": "AbnormalAlveolarTypeIIPneumocyteMorphology",
"label": "Abnormal alveolar type II pneumocyte morphology",
"logical_definition": null,
"original_id": "HP:0033245",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPulmonaryAlveolarSystemMorphology"
}
]
} | 0 | {
"document": "Abnormal alveolar type II pneumocyte morphology Any structural abnormality of alveolar type 2 (ATII) cells. [{'predicate': 'subClassOf', 'target': 'AbnormalPulmonaryAlveolarSystemMorphology'}]"
} |
{
"aliases": null,
"definition": "Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.",
"id": "AbnormalAlveolarVolume",
"label": "Abnormal alveolar volume",
"logical_definition": null,
"original_id": "HP:0033632",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOnPulmonaryFunctionTesting"
}
]
} | 0 | {
"document": "Abnormal alveolar volume Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. [{'predicate': 'subClassOf', 'target': 'AbnormalityOnPulmonaryFunctionTesting'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfDarkAdaptedBrightFlashElectroretinogram",
"label": "Abnormal amplitude of dark-adapted bright flash electroretinogram",
"logical_definition": null,
"original_id": "HP:0030478",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalDarkAdaptedBrightFlashElectroretinogram"
}
]
} | 0 | {
"document": "Abnormal amplitude of dark-adapted bright flash electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalDarkAdaptedBrightFlashElectroretinogram'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfDarkAdaptedDimFlashElectroretinogram",
"label": "Abnormal amplitude of dark-adapted dim flash electroretinogram",
"logical_definition": null,
"original_id": "HP:0030476",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalDarkAdaptedDimFlashElectroretinogram"
}
]
} | 0 | {
"document": "Abnormal amplitude of dark-adapted dim flash electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalDarkAdaptedDimFlashElectroretinogram'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfFlashVisualEvokedPotentials",
"label": "Abnormal amplitude of flash visual evoked potentials",
"logical_definition": null,
"original_id": "HP:0030462",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFlashVisualEvokedPotentials"
}
]
} | 0 | {
"document": "Abnormal amplitude of flash visual evoked potentials None [{'predicate': 'subClassOf', 'target': 'AbnormalFlashVisualEvokedPotentials'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfLightAdaptedFlickerElectroretinogram",
"label": "Abnormal amplitude of light-adapted flicker electroretinogram",
"logical_definition": null,
"original_id": "HP:0030479",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLightAdaptedFlickerElectroretinogram"
}
]
} | 0 | {
"document": "Abnormal amplitude of light-adapted flicker electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalLightAdaptedFlickerElectroretinogram'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfLightAdaptedSingleFlashElectroretinogram",
"label": "Abnormal amplitude of light-adapted single flash electroretinogram",
"logical_definition": null,
"original_id": "HP:0030481",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLightAdaptedSingleFlashElectroretinogram"
}
]
} | 0 | {
"document": "Abnormal amplitude of light-adapted single flash electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalLightAdaptedSingleFlashElectroretinogram'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfPatternElectroretinogram",
"label": "Abnormal amplitude of pattern electroretinogram",
"logical_definition": null,
"original_id": "HP:0030485",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPatternElectroretinogram"
}
]
} | 0 | {
"document": "Abnormal amplitude of pattern electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalPatternElectroretinogram'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfPatternOnsetOffsetVisualEvokedPotentials",
"label": "Abnormal amplitude of pattern onset/offset visual evoked potentials",
"logical_definition": null,
"original_id": "HP:0030457",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfPatternOnsetOffsetVisualEvokedPotentials"
}
]
} | 0 | {
"document": "Abnormal amplitude of pattern onset/offset visual evoked potentials None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfPatternOnsetOffsetVisualEvokedPotentials'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmplitudeOfPatternReversalVisualEvokedPotentials",
"label": "Abnormal amplitude of pattern reversal visual evoked potentials",
"logical_definition": null,
"original_id": "HP:0000650",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfPatternReversalVisualEvokedPotentials"
}
]
} | 0 | {
"document": "Abnormal amplitude of pattern reversal visual evoked potentials None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfPatternReversalVisualEvokedPotentials'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAmslerGridTest",
"label": "Abnormal Amsler grid test",
"logical_definition": null,
"original_id": "HP:0030590",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVisualFieldTest"
}
]
} | 0 | {
"document": "Abnormal Amsler grid test None [{'predicate': 'subClassOf', 'target': 'AbnormalVisualFieldTest'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the amygdala.",
"id": "AbnormalAmygdalaMorphology",
"label": "Abnormal amygdala morphology",
"logical_definition": null,
"original_id": "HP:0033668",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMorphologyOfTheLimbicSystem"
}
]
} | 0 | {
"document": "Abnormal amygdala morphology A structural anomaly of the amygdala. [{'predicate': 'subClassOf', 'target': 'AbnormalMorphologyOfTheLimbicSystem'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.",
"id": "AbnormalAmyloidBeta40PeptideCSFConcentration",
"label": "Abnormal amyloid beta 40 peptide CSF concentration",
"logical_definition": null,
"original_id": "HP:0025686",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAmyloidBetaPeptideCSFConcentration"
}
]
} | 0 | {
"document": "Abnormal amyloid beta 40 peptide CSF concentration Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. [{'predicate': 'subClassOf', 'target': 'AbnormalAmyloidBetaPeptideCSFConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.",
"id": "AbnormalAmyloidBeta42PeptideCSFConcentration",
"label": "Abnormal amyloid beta 42 peptide CSF concentration",
"logical_definition": null,
"original_id": "HP:0025683",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAmyloidBetaPeptideCSFConcentration"
}
]
} | 0 | {
"document": "Abnormal amyloid beta 42 peptide CSF concentration Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. [{'predicate': 'subClassOf', 'target': 'AbnormalAmyloidBetaPeptideCSFConcentration'}]"
} |
{
"aliases": null,
"definition": "Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.",
"id": "AbnormalAmyloidBetaPeptideCSFConcentration",
"label": "Abnormal amyloid beta peptide CSF concentration",
"logical_definition": null,
"original_id": "HP:0025688",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCSFProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal amyloid beta peptide CSF concentration Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "Developmental defect characterized by an anomalous anatomic location of the heart.",
"id": "AbnormalAnatomicLocationOfTheHeart",
"label": "Abnormal anatomic location of the heart",
"logical_definition": null,
"original_id": "HP:0004307",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartMorphology"
}
]
} | 0 | {
"document": "Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.",
"id": "AbnormalAngiostatinLevel",
"label": "Abnormal angiostatin level",
"logical_definition": null,
"original_id": "HP:0031439",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingBetaGlobulinLevel"
}
]
} | 0 | {
"document": "Abnormal angiostatin level A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingBetaGlobulinLevel'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the ankle.",
"id": "AbnormalAnkleMorphology",
"label": "Abnormal ankle morphology",
"logical_definition": null,
"original_id": "HP:0034673",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheAnkle"
}
]
} | 0 | {
"document": "Abnormal ankle morphology A structural anomaly of the ankle. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheAnkle'}]"
} |
{
"aliases": null,
"definition": "A functional anomaly of the ankle.",
"id": "AbnormalAnklePhysiology",
"label": "Abnormal ankle physiology",
"logical_definition": null,
"original_id": "HP:0034674",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheAnkle"
}
]
} | 0 | {
"document": "Abnormal ankle physiology A functional anomaly of the ankle. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheAnkle'}]"
} |
{
"aliases": null,
"definition": "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.",
"id": "AbnormalAnteriorChamberMorphology",
"label": "Abnormal anterior chamber morphology",
"logical_definition": null,
"original_id": "HP:0000593",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAnteriorEyeSegmentMorphology"
}
]
} | 0 | {
"document": "Abnormal anterior chamber morphology Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. [{'predicate': 'subClassOf', 'target': 'AbnormalAnteriorEyeSegmentMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).",
"id": "AbnormalAnteriorEyeSegmentMorphology",
"label": "Abnormal anterior eye segment morphology",
"logical_definition": null,
"original_id": "HP:0004328",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEyeMorphology"
}
]
} | 0 | {
"document": "Abnormal anterior eye segment morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). [{'predicate': 'subClassOf', 'target': 'AbnormalEyeMorphology'}]"
} |
{
"aliases": null,
"definition": "Any anomaly of the anterior horn cell.",
"id": "AbnormalAnteriorHornCellMorphology",
"label": "Abnormal anterior horn cell morphology",
"logical_definition": null,
"original_id": "HP:0006802",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPeripheralNervousSystemMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalMotorNeuronMorphology"
}
]
} | 0 | {
"document": "Abnormal anterior horn cell morphology Any anomaly of the anterior horn cell. [{'predicate': 'subClassOf', 'target': 'AbnormalPeripheralNervousSystemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMotorNeuronMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the antihelix.",
"id": "AbnormalAntihelixMorphology",
"label": "Abnormal antihelix morphology",
"logical_definition": null,
"original_id": "HP:0009738",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPinnaMorphology"
}
]
} | 0 | {
"document": "Abnormal antihelix morphology An abnormality of the antihelix. [{'predicate': 'subClassOf', 'target': 'AbnormalPinnaMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.",
"id": "AbnormalAntitragusMorphology",
"label": "Abnormal antitragus morphology",
"logical_definition": null,
"original_id": "HP:0009896",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPinnaMorphology"
}
]
} | 0 | {
"document": "Abnormal antitragus morphology An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. [{'predicate': 'subClassOf', 'target': 'AbnormalPinnaMorphology'}]"
} |
{
"aliases": null,
"definition": "Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.",
"id": "AbnormalAntralFollicleCount",
"label": "Abnormal antral follicle count",
"logical_definition": null,
"original_id": "HP:0033084",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalOvarianPhysiology"
}
]
} | 0 | {
"document": "Abnormal antral follicle count Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve. [{'predicate': 'subClassOf', 'target': 'AbnormalOvarianPhysiology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the arch of aorta.",
"id": "AbnormalAorticArchMorphology",
"label": "Abnormal aortic arch morphology",
"logical_definition": null,
"original_id": "HP:0012303",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAorticMorphology"
}
]
} | 0 | {
"document": "Abnormal aortic arch morphology An anomaly of the arch of aorta. [{'predicate': 'subClassOf', 'target': 'AbnormalAorticMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the aorta.",
"id": "AbnormalAorticMorphology",
"label": "Abnormal aortic morphology",
"logical_definition": null,
"original_id": "HP:0001679",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSystemicArterialMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalMorphologyOfTheGreatVessels"
}
]
} | 0 | {
"document": "Abnormal aortic morphology An abnormality of the aorta. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMorphologyOfTheGreatVessels'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAorticPhysiology",
"label": "Abnormal aortic physiology",
"logical_definition": null,
"original_id": "HP:0030964",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalArterialPhysiology"
}
]
} | 0 | {
"document": "Abnormal aortic physiology None [{'predicate': 'subClassOf', 'target': 'AbnormalArterialPhysiology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the aortic valve leaflets.",
"id": "AbnormalAorticValveCuspMorphology",
"label": "Abnormal aortic valve cusp morphology",
"logical_definition": null,
"original_id": "HP:0031567",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAorticValveMorphology"
}
]
} | 0 | {
"document": "Abnormal aortic valve cusp morphology Any structural anomaly of the aortic valve leaflets. [{'predicate': 'subClassOf', 'target': 'AbnormalAorticValveMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of the aortic valve.",
"id": "AbnormalAorticValveMorphology",
"label": "Abnormal aortic valve morphology",
"logical_definition": null,
"original_id": "HP:0001646",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartValveMorphology"
}
]
} | 0 | {
"document": "Abnormal aortic valve morphology Any abnormality of the aortic valve. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartValveMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAorticValvePhysiology",
"label": "Abnormal aortic valve physiology",
"logical_definition": null,
"original_id": "HP:0031652",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartValvePhysiology"
}
]
} | 0 | {
"document": "Abnormal aortic valve physiology None [{'predicate': 'subClassOf', 'target': 'AbnormalHeartValvePhysiology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.",
"id": "AbnormalApoptosis",
"label": "Abnormal apoptosis",
"logical_definition": null,
"original_id": "HP:4000056",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCellularPhysiology"
}
]
} | 0 | {
"document": "Abnormal apoptosis Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. [{'predicate': 'subClassOf', 'target': 'AbnormalCellularPhysiology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.",
"id": "AbnormalAppendicularSkeletonMorphology",
"label": "Abnormal appendicular skeleton morphology",
"logical_definition": null,
"original_id": "HP:0011844",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMorphology"
}
]
} | 0 | {
"document": "Abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the Arachnoid mater.",
"id": "AbnormalArachnoidMaterMorphology",
"label": "Abnormal arachnoid mater morphology",
"logical_definition": null,
"original_id": "HP:0100700",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMeningealMorphology"
}
]
} | 0 | {
"document": "Abnormal arachnoid mater morphology An abnormality of the Arachnoid mater. [{'predicate': 'subClassOf', 'target': 'AbnormalMeningealMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.",
"id": "AbnormalArcuateArteryEndotheliumMorphology",
"label": "Abnormal arcuate artery endothelium morphology",
"logical_definition": null,
"original_id": "HP:0033901",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalArcuateArteryMorphology"
}
]
} | 0 | {
"document": "Abnormal arcuate artery endothelium morphology Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalArcuateArteryMorphology'}]"
} |
{
"aliases": null,
"definition": "Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.",
"id": "AbnormalArcuateArteryIntimaMediaMorphology",
"label": "Abnormal arcuate artery intima/media morphology",
"logical_definition": null,
"original_id": "HP:0033886",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalArcuateArteryMorphology"
}
]
} | 0 | {
"document": "Abnormal arcuate artery intima/media morphology Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. [{'predicate': 'subClassOf', 'target': 'AbnormalArcuateArteryMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.",
"id": "AbnormalArcuateArteryLumenMorphology",
"label": "Abnormal arcuate artery lumen morphology",
"logical_definition": null,
"original_id": "HP:0033896",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalArcuateArteryMorphology"
}
]
} | 0 | {
"document": "Abnormal arcuate artery lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalArcuateArteryMorphology'}]"
} |
{
"aliases": null,
"definition": "Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.",
"id": "AbnormalArcuateArteryMorphology",
"label": "Abnormal arcuate artery morphology",
"logical_definition": null,
"original_id": "HP:0033837",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalIntrarenalArteryMorphology"
}
]
} | 0 | {
"document": "Abnormal arcuate artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. [{'predicate': 'subClassOf', 'target': 'AbnormalIntrarenalArteryMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.",
"id": "AbnormalArcuateVeinIntimaMediaMorphology",
"label": "Abnormal arcuate vein intima/media morphology",
"logical_definition": null,
"original_id": "HP:0033879",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalArcuateVeinMorphology"
}
]
} | 0 | {
"document": "Abnormal arcuate vein intima/media morphology Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalArcuateVeinMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.",
"id": "AbnormalArcuateVeinLumenMorphology",
"label": "Abnormal arcuate vein lumen morphology",
"logical_definition": null,
"original_id": "HP:0033875",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalArcuateVeinMorphology"
}
]
} | 0 | {
"document": "Abnormal arcuate vein lumen morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalArcuateVeinMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).",
"id": "AbnormalArcuateVeinMorphology",
"label": "Abnormal arcuate vein morphology",
"logical_definition": null,
"original_id": "HP:0033853",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalIntrarenalVeinMorphology"
}
]
} | 0 | {
"document": "Abnormal arcuate vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). [{'predicate': 'subClassOf', 'target': 'AbnormalIntrarenalVeinMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.",
"id": "AbnormalAreolarMorphology",
"label": "Abnormal areolar morphology",
"logical_definition": null,
"original_id": "HP:0032314",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBreastMorphology"
}
]
} | 0 | {
"document": "Abnormal areolar morphology An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. [{'predicate': 'subClassOf', 'target': 'AbnormalBreastMorphology'}]"
} |
{
"aliases": null,
"definition": "A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)",
"id": "AbnormalArmSpan",
"label": "Abnormal arm span",
"logical_definition": null,
"original_id": "HP:0012769",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUpperLimb"
}
]
} | 0 | {
"document": "Abnormal arm span A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUpperLimb'}]"
} |
{
"aliases": null,
"definition": "Aromatase activity outside of the normal range.",
"id": "AbnormalAromataseActivity",
"label": "Abnormal aromatase activity",
"logical_definition": null,
"original_id": "HP:0034698",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEnzymeConcentrationOrActivity"
}
]
} | 0 | {
"document": "Abnormal aromatase activity Aromatase activity outside of the normal range. [{'predicate': 'subClassOf', 'target': 'AbnormalEnzymeConcentrationOrActivity'}]"
} |
{
"aliases": null,
"definition": "An anomaly of arterial function.",
"id": "AbnormalArterialPhysiology",
"label": "Abnormal arterial physiology",
"logical_definition": null,
"original_id": "HP:0025323",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVascularPhysiology"
}
]
} | 0 | {
"document": "Abnormal arterial physiology An anomaly of arterial function. [{'predicate': 'subClassOf', 'target': 'AbnormalVascularPhysiology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the aryepiglottic fold.",
"id": "AbnormalAryepiglotticFoldMorphology",
"label": "Abnormal aryepiglottic fold morphology",
"logical_definition": null,
"original_id": "HP:0008744",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLarynxMorphology"
}
]
} | 0 | {
"document": "Abnormal aryepiglottic fold morphology An abnormality of the aryepiglottic fold. [{'predicate': 'subClassOf', 'target': 'AbnormalLarynxMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.",
"id": "AbnormalAscendingAortaMorphology",
"label": "Abnormal ascending aorta morphology",
"logical_definition": null,
"original_id": "HP:0031784",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAorticMorphology"
}
]
} | 0 | {
"document": "Abnormal ascending aorta morphology Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. [{'predicate': 'subClassOf', 'target': 'AbnormalAorticMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of astrocytes.",
"id": "AbnormalAstrocyteMorphology",
"label": "Abnormal astrocyte morphology",
"logical_definition": null,
"original_id": "HP:0100707",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGlialCellMorphology"
}
]
} | 0 | {
"document": "Abnormal astrocyte morphology An abnormality of astrocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalGlialCellMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormality of the spatial relationship of the atria to other components of the heart.",
"id": "AbnormalAtrialArrangement",
"label": "Abnormal atrial arrangement",
"logical_definition": null,
"original_id": "HP:0011535",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiacAtriumMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalSpatialOrientationOfTheCardiacSegments"
}
]
} | 0 | {
"document": "Abnormal atrial arrangement Abnormality of the spatial relationship of the atria to other components of the heart. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacAtriumMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalSpatialOrientationOfTheCardiacSegments'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the interatrial septum.",
"id": "AbnormalAtrialSeptumMorphology",
"label": "Abnormal atrial septum morphology",
"logical_definition": null,
"original_id": "HP:0011994",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiacSeptumMorphology"
}
]
} | 0 | {
"document": "Abnormal atrial septum morphology An abnormality of the interatrial septum. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacSeptumMorphology'}]"
} |
{
"aliases": null,
"definition": "An impairment of the electrical continuity between the atria and ventricles.",
"id": "AbnormalAtrioventricularConduction",
"label": "Abnormal atrioventricular conduction",
"logical_definition": null,
"original_id": "HP:0005150",
"relationships": [
{
"predicate": "subClassOf",
"target": "CardiacConductionAbnormality"
}
]
} | 0 | {
"document": "Abnormal atrioventricular conduction An impairment of the electrical continuity between the atria and ventricles. [{'predicate': 'subClassOf', 'target': 'CardiacConductionAbnormality'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the circulatory connection between atria and ventricles.",
"id": "AbnormalAtrioventricularConnection",
"label": "Abnormal atrioventricular connection",
"logical_definition": null,
"original_id": "HP:0011546",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalConnectionOfTheCardiacSegments"
}
]
} | 0 | {
"document": "Abnormal atrioventricular connection An abnormality of the circulatory connection between atria and ventricles. [{'predicate': 'subClassOf', 'target': 'AbnormalConnectionOfTheCardiacSegments'}]"
} |
{
"aliases": null,
"definition": "An abnormality of an atrioventricular valve.",
"id": "AbnormalAtrioventricularValveMorphology",
"label": "Abnormal atrioventricular valve morphology",
"logical_definition": null,
"original_id": "HP:0006705",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartValveMorphology"
}
]
} | 0 | {
"document": "Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartValveMorphology'}]"
} |
{
"aliases": null,
"definition": "Any functional defect of the mitral or tricuspid valve.",
"id": "AbnormalAtrioventricularValvePhysiology",
"label": "Abnormal atrioventricular valve physiology",
"logical_definition": null,
"original_id": "HP:0031650",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartValvePhysiology"
}
]
} | 0 | {
"document": "Abnormal atrioventricular valve physiology Any functional defect of the mitral or tricuspid valve. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartValvePhysiology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.",
"id": "AbnormalAuditoryEvokedPotentials",
"label": "Abnormal auditory evoked potentials",
"logical_definition": null,
"original_id": "HP:0006958",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfPeripheralNervousSystemElectrophysiology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfCentralNervousSystemElectrophysiology"
}
]
} | 0 | {
"document": "Abnormal auditory evoked potentials An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfPeripheralNervousSystemElectrophysiology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfCentralNervousSystemElectrophysiology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalAutomatedKineticPerimetryTest",
"label": "Abnormal automated kinetic perimetry test",
"logical_definition": null,
"original_id": "HP:0030594",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalKineticPerimetryTest"
}
]
} | 0 | {
"document": "Abnormal automated kinetic perimetry test None [{'predicate': 'subClassOf', 'target': 'AbnormalKineticPerimetryTest'}]"
} |
{
"aliases": null,
"definition": "A structural abnormality of the autonomic nervous system.",
"id": "AbnormalAutonomicNervousSystemMorphology",
"label": "Abnormal autonomic nervous system morphology",
"logical_definition": null,
"original_id": "HP:0012331",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheAutonomicNervousSystem"
}
]
} | 0 | {
"document": "Abnormal autonomic nervous system morphology A structural abnormality of the autonomic nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheAutonomicNervousSystem'}]"
} |
{
"aliases": null,
"definition": "A functional abnormality of the autonomic nervous system.",
"id": "AbnormalAutonomicNervousSystemPhysiology",
"label": "Abnormal autonomic nervous system physiology",
"logical_definition": null,
"original_id": "HP:0012332",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheAutonomicNervousSystem"
}
]
} | 0 | {
"document": "Abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheAutonomicNervousSystem'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the muscles of the trunk and head.",
"id": "AbnormalAxialMuscleMorphology",
"label": "Abnormal axial muscle morphology",
"logical_definition": null,
"original_id": "HP:0040286",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
}
]
} | 0 | {
"document": "Abnormal axial muscle morphology A structural anomaly of the muscles of the trunk and head. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.",
"id": "AbnormalAxialSkeletonMorphology",
"label": "Abnormal axial skeleton morphology",
"logical_definition": null,
"original_id": "HP:0009121",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMorphology"
}
]
} | 0 | {
"document": "Abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.",
"id": "AbnormalAxonemalOrganizationOfRespiratoryMotileCilia",
"label": "Abnormal axonemal organization of respiratory motile cilia",
"logical_definition": null,
"original_id": "HP:0012258",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratoryMotileCiliumMorphology"
}
]
} | 0 | {
"document": "Abnormal axonemal organization of respiratory motile cilia Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratoryMotileCiliumMorphology'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.",
"id": "AbnormalBCellCount",
"label": "Abnormal B cell count",
"logical_definition": null,
"original_id": "HP:0010975",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBCellMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLymphocyteCount"
}
]
} | 0 | {
"document": "Abnormal B cell count A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. [{'predicate': 'subClassOf', 'target': 'AbnormalBCellMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteCount'}]"
} |
{
"aliases": null,
"definition": "A structural abnormality of B cells.",
"id": "AbnormalBCellMorphology",
"label": "Abnormal B cell morphology",
"logical_definition": null,
"original_id": "HP:0002846",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal B cell morphology A structural abnormality of B cells. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.",
"id": "AbnormalBCellProliferation",
"label": "Abnormal B cell proliferation",
"logical_definition": null,
"original_id": "HP:0031380",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphocyteProliferation"
}
]
} | 0 | {
"document": "Abnormal B cell proliferation Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteProliferation'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalBCellSubsetDistribution",
"label": "Abnormal B cell subset distribution",
"logical_definition": null,
"original_id": "HP:0025539",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBCellCount"
}
]
} | 0 | {
"document": "Abnormal B cell subset distribution None [{'predicate': 'subClassOf', 'target': 'AbnormalBCellCount'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).",
"id": "AbnormalBTypeNatriureticPeptideConcentration",
"label": "Abnormal B-type natriuretic peptide concentration",
"logical_definition": null,
"original_id": "HP:0031138",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal B-type natriuretic peptide concentration A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.",
"id": "AbnormalBasalGangliaMRISignalIntensity",
"label": "Abnormal basal ganglia MRI signal intensity",
"logical_definition": null,
"original_id": "HP:0012751",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBasalGangliaMorphology"
}
]
} | 0 | {
"document": "Abnormal basal ganglia MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. [{'predicate': 'subClassOf', 'target': 'AbnormalBasalGangliaMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormality of the basal ganglia.",
"id": "AbnormalBasalGangliaMorphology",
"label": "Abnormal basal ganglia morphology",
"logical_definition": null,
"original_id": "HP:0002134",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralSubcortexMorphology"
}
]
} | 0 | {
"document": "Abnormal basal ganglia morphology Abnormality of the basal ganglia. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralSubcortexMorphology'}]"
} |
{
"aliases": null,
"definition": "Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).",
"id": "AbnormalBaseExcess",
"label": "Abnormal base excess",
"logical_definition": null,
"original_id": "HP:0032281",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfAcidBaseHomeostasis"
}
]
} | 0 | {
"document": "Abnormal base excess Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). [{'predicate': 'subClassOf', 'target': 'AbnormalityOfAcidBaseHomeostasis'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal number of basophils per volume in the blood circulation.",
"id": "AbnormalBasophilCount",
"label": "Abnormal basophil count",
"logical_definition": null,
"original_id": "HP:0031806",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBasophilMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalGranulocyteCount"
}
]
} | 0 | {
"document": "Abnormal basophil count Any deviation from the normal number of basophils per volume in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalBasophilMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalGranulocyteCount'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality or abnormal count of basophils.",
"id": "AbnormalBasophilMorphology",
"label": "Abnormal basophil morphology",
"logical_definition": null,
"original_id": "HP:0001912",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGranulocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal basophil morphology Any structural abnormality or abnormal count of basophils. [{'predicate': 'subClassOf', 'target': 'AbnormalGranulocyteMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalBestCorrectedVisualAcuityTest",
"label": "Abnormal best corrected visual acuity test",
"logical_definition": null,
"original_id": "HP:0030534",
"relationships": [
{
"predicate": "subClassOf",
"target": "VisualAcuityTestAbnormality"
}
]
} | 0 | {
"document": "Abnormal best corrected visual acuity test None [{'predicate': 'subClassOf', 'target': 'VisualAcuityTestAbnormality'}]"
} |
{
"aliases": null,
"definition": "Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.",
"id": "AbnormalBetaMannosidaseActivity",
"label": "Abnormal beta-mannosidase activity",
"logical_definition": null,
"original_id": "HP:0034725",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingEnzymeConcentrationOrActivity"
}
]
} | 0 | {
"document": "Abnormal beta-mannosidase activity Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]"
} |
{
"aliases": null,
"definition": "A structural abnormality of the biliary tree.",
"id": "AbnormalBiliaryTractMorphology",
"label": "Abnormal biliary tract morphology",
"logical_definition": null,
"original_id": "HP:0012440",
"relationships": [
{
"predicate": "subClassOf",
"target": "BiliaryTractAbnormality"
}
]
} | 0 | {
"document": "Abnormal biliary tract morphology A structural abnormality of the biliary tree. [{'predicate': 'subClassOf', 'target': 'BiliaryTractAbnormality'}]"
} |
{
"aliases": null,
"definition": "A functional abnormality of the biliary tree.",
"id": "AbnormalBiliaryTractPhysiology",
"label": "Abnormal biliary tract physiology",
"logical_definition": null,
"original_id": "HP:0012439",
"relationships": [
{
"predicate": "subClassOf",
"target": "BiliaryTractAbnormality"
}
]
} | 0 | {
"document": "Abnormal biliary tract physiology A functional abnormality of the biliary tree. [{'predicate': 'subClassOf', 'target': 'BiliaryTractAbnormality'}]"
} |
{
"aliases": null,
"definition": "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.",
"id": "AbnormalBleeding",
"label": "Abnormal bleeding",
"logical_definition": null,
"original_id": "HP:0001892",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBloodAndBloodFormingTissues"
}
]
} | 0 | {
"document": "Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodAndBloodFormingTissues'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal frequency of blinking the eye.",
"id": "AbnormalBlinkRate",
"label": "Abnormal blink rate",
"logical_definition": null,
"original_id": "HP:0034775",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVision"
}
]
} | 0 | {
"document": "Abnormal blink rate A deviation from the normal frequency of blinking the eye. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVision'}]"
} |
{
"aliases": null,
"definition": "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.",
"id": "AbnormalBlisteringOfTheSkin",
"label": "Abnormal blistering of the skin",
"logical_definition": null,
"original_id": "HP:0008066",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfSkinMorphology"
}
]
} | 0 | {
"document": "Abnormal blistering of the skin The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfSkinMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormal concentration of 5-methyltetrahydrofolate in the blood.",
"id": "AbnormalBlood5MethyltetrahydrofolateLevel",
"label": "Abnormal blood 5-methyltetrahydrofolate level",
"logical_definition": null,
"original_id": "HP:0410216",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfFolateMetabolism"
}
]
} | 0 | {
"document": "Abnormal blood 5-methyltetrahydrofolate level An abnormal concentration of 5-methyltetrahydrofolate in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFolateMetabolism'}]"
} |
{
"aliases": null,
"definition": "An abnormality of carbon dioxide (CO2) in the arterial blood.",
"id": "AbnormalBloodCarbonDioxideLevel",
"label": "Abnormal blood carbon dioxide level",
"logical_definition": null,
"original_id": "HP:0500164",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBloodGasLevel"
}
]
} | 0 | {
"document": "Abnormal blood carbon dioxide level An abnormality of carbon dioxide (CO2) in the arterial blood. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodGasLevel'}]"
} |
{
"aliases": null,
"definition": "An abnormality of cation homeostasis.",
"id": "AbnormalBloodCationConcentration",
"label": "Abnormal blood cation concentration",
"logical_definition": null,
"original_id": "HP:0010929",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBloodIonConcentration"
}
]
} | 0 | {
"document": "Abnormal blood cation concentration An abnormality of cation homeostasis. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodIonConcentration'}]"
} |
{
"aliases": null,
"definition": "An abnormality of chloride homeostasis or concentration in the body.",
"id": "AbnormalBloodChlorideConcentration",
"label": "Abnormal blood chloride concentration",
"logical_definition": null,
"original_id": "HP:0011422",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBloodIonConcentration"
}
]
} | 0 | {
"document": "Abnormal blood chloride concentration An abnormality of chloride homeostasis or concentration in the body. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodIonConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of folate in the blood circulation.",
"id": "AbnormalBloodFolateConcentration",
"label": "Abnormal blood folate concentration",
"logical_definition": null,
"original_id": "HP:0040087",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfFolateMetabolism"
}
]
} | 0 | {
"document": "Abnormal blood folate concentration Any deviation from the normal concentration of folate in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFolateMetabolism'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.",
"id": "AbnormalBloodGasLevel",
"label": "Abnormal blood gas level",
"logical_definition": null,
"original_id": "HP:0012415",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratorySystemPhysiology"
}
]
} | 0 | {
"document": "Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratorySystemPhysiology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalBloodGasLevelInCordBlood",
"label": "Abnormal blood gas level in cord blood",
"logical_definition": null,
"original_id": "HP:0410211",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCordBloodMeasurement"
}
]
} | 0 | {
"document": "Abnormal blood gas level in cord blood None [{'predicate': 'subClassOf', 'target': 'AbnormalCordBloodMeasurement'}]"
} |