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{
"aliases": null,
"definition": "Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.",
"id": "AbnormalCardiacBiomarkerTest",
"label": "Abnormal cardiac biomarker test",
"logical_definition": null,
"original_id": "HP:0500020",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiacTest"
}
]
} | 0 | {
"document": "Abnormal cardiac biomarker test Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacTest'}]"
} |
{
"aliases": null,
"definition": "Abnormal results from the diagnostic tests resulting from cardiac catheterization.",
"id": "AbnormalCardiacCatheterization",
"label": "Abnormal cardiac catheterization",
"logical_definition": null,
"original_id": "HP:0500017",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiacTest"
}
]
} | 0 | {
"document": "Abnormal cardiac catheterization Abnormal results from the diagnostic tests resulting from cardiac catheterization. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacTest'}]"
} |
{
"aliases": null,
"definition": "Abnormal results of exercise on heart function.",
"id": "AbnormalCardiacExerciseStressTest",
"label": "Abnormal cardiac exercise stress test",
"logical_definition": null,
"original_id": "HP:0500018",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiacTest"
}
]
} | 0 | {
"document": "Abnormal cardiac exercise stress test Abnormal results of exercise on heart function. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacTest'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.",
"id": "AbnormalCardiacIndex",
"label": "Abnormal cardiac index",
"logical_definition": null,
"original_id": "HP:0033529",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiacOutput"
}
]
} | 0 | {
"document": "Abnormal cardiac index Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacOutput'}]"
} |
{
"aliases": null,
"definition": "Abnormal results of a MRI for the heart.",
"id": "AbnormalCardiacMRI",
"label": "Abnormal cardiac MRI",
"logical_definition": null,
"original_id": "HP:0500016",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiacTest"
}
]
} | 0 | {
"document": "Abnormal cardiac MRI Abnormal results of a MRI for the heart. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacTest'}]"
} |
{
"aliases": null,
"definition": "Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.",
"id": "AbnormalCardiacMagneticResonanceImagingFinding",
"label": "Abnormal cardiac magnetic resonance imaging finding",
"logical_definition": null,
"original_id": "HP:4000001",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiac magnetic resonance imaging finding Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]"
} |
{
"aliases": null,
"definition": "A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.",
"id": "AbnormalCardiacOutput",
"label": "Abnormal cardiac output",
"logical_definition": null,
"original_id": "HP:0033528",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBloodCirculation"
}
]
} | 0 | {
"document": "Abnormal cardiac output A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodCirculation'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the intra-atrial or intraventricular septum.",
"id": "AbnormalCardiacSeptumMorphology",
"label": "Abnormal cardiac septum morphology",
"logical_definition": null,
"original_id": "HP:0001671",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiac septum morphology An anomaly of the intra-atrial or intraventricular septum. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal test result of cardiovascular physiology.",
"id": "AbnormalCardiacTest",
"label": "Abnormal cardiac test",
"logical_definition": null,
"original_id": "HP:0500015",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheCardiovascularSystem"
}
]
} | 0 | {
"document": "Abnormal cardiac test Abnormal test result of cardiovascular physiology. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheCardiovascularSystem'}]"
} |
{
"aliases": null,
"definition": "An abnormality of a cardiac ventricle.",
"id": "AbnormalCardiacVentricleMorphology",
"label": "Abnormal cardiac ventricle morphology",
"logical_definition": null,
"original_id": "HP:0001713",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiac ventricle morphology An abnormality of a cardiac ventricle. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the cardiac ventricular function.",
"id": "AbnormalCardiacVentricularFunction",
"label": "Abnormal cardiac ventricular function",
"logical_definition": null,
"original_id": "HP:0030872",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiovascularSystemPhysiology"
}
]
} | 0 | {
"document": "Abnormal cardiac ventricular function An abnormality of the cardiac ventricular function. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiovascularSystemPhysiology'}]"
} |
{
"aliases": null,
"definition": "Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.",
"id": "AbnormalCardiomyocyteConnexin43Staining",
"label": "Abnormal cardiomyocyte connexin43 staining",
"logical_definition": null,
"original_id": "HP:0031337",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiomyocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiomyocyte connexin43 staining Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiomyocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Anomalous staining of dystrophin in cardiomyocytes.",
"id": "AbnormalCardiomyocyteDystrophinStaining",
"label": "Abnormal cardiomyocyte dystrophin staining",
"logical_definition": null,
"original_id": "HP:0031339",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiomyocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiomyocyte dystrophin staining Anomalous staining of dystrophin in cardiomyocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiomyocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the structure of mitochondria within cardiomyocytes.",
"id": "AbnormalCardiomyocyteMitochondrialMorphology",
"label": "Abnormal cardiomyocyte mitochondrial morphology",
"logical_definition": null,
"original_id": "HP:0031335",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiomyocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiomyocyte mitochondrial morphology An anomaly of the structure of mitochondria within cardiomyocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiomyocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.",
"id": "AbnormalCardiomyocyteMorphology",
"label": "Abnormal cardiomyocyte morphology",
"logical_definition": null,
"original_id": "HP:0031331",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalCellMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiomyocyte morphology Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]"
} |
{
"aliases": null,
"definition": "Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.",
"id": "AbnormalCardiomyocytePlakoglobinStaining",
"label": "Abnormal cardiomyocyte plakoglobin staining",
"logical_definition": null,
"original_id": "HP:0031338",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCardiomyocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal cardiomyocyte plakoglobin staining Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiomyocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal functionality of the cardiovascular system.",
"id": "AbnormalCardiovascularSystemPhysiology",
"label": "Abnormal cardiovascular system physiology",
"logical_definition": null,
"original_id": "HP:0011025",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheCardiovascularSystem"
}
]
} | 0 | {
"document": "Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheCardiovascularSystem'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.",
"id": "AbnormalCarotidArteryMorphology",
"label": "Abnormal carotid artery morphology",
"logical_definition": null,
"original_id": "HP:0005344",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSystemicArterialMorphology"
}
]
} | 0 | {
"document": "Abnormal carotid artery morphology Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).",
"id": "AbnormalCarpalMorphology",
"label": "Abnormal carpal morphology",
"logical_definition": null,
"original_id": "HP:0001191",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheWrist"
},
{
"predicate": "subClassOf",
"target": "AbnormalHandMorphology"
}
]
} | 0 | {
"document": "Abnormal carpal morphology An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheWrist'}, {'predicate': 'subClassOf', 'target': 'AbnormalHandMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.",
"id": "AbnormalCartilageCollagen",
"label": "Abnormal cartilage collagen",
"logical_definition": null,
"original_id": "HP:0008271",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCartilageMorphology"
}
]
} | 0 | {
"document": "Abnormal cartilage collagen Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. [{'predicate': 'subClassOf', 'target': 'AbnormalCartilageMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalCartilageMatrix",
"label": "Abnormal cartilage matrix",
"logical_definition": null,
"original_id": "HP:0008178",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCartilageMorphology"
}
]
} | 0 | {
"document": "Abnormal cartilage matrix None [{'predicate': 'subClassOf', 'target': 'AbnormalCartilageMorphology'}]"
} |
{
"aliases": null,
"definition": "Any morphological abnormality of cartilage.",
"id": "AbnormalCartilageMorphology",
"label": "Abnormal cartilage morphology",
"logical_definition": null,
"original_id": "HP:0002763",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMorphology"
}
]
} | 0 | {
"document": "Abnormal cartilage morphology Any morphological abnormality of cartilage. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the caudate nucleus.",
"id": "AbnormalCaudateNucleusMorphology",
"label": "Abnormal caudate nucleus morphology",
"logical_definition": null,
"original_id": "HP:0002339",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCorpusStriatumMorphology"
}
]
} | 0 | {
"document": "Abnormal caudate nucleus morphology Any structural abnormality of the caudate nucleus. [{'predicate': 'subClassOf', 'target': 'AbnormalCorpusStriatumMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the celiac artery.",
"id": "AbnormalCeliacArteryMorphology",
"label": "Abnormal celiac artery morphology",
"logical_definition": null,
"original_id": "HP:0012326",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSystemicArterialMorphology"
}
]
} | 0 | {
"document": "Abnormal celiac artery morphology An anomaly of the celiac artery. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}]"
} |
{
"aliases": null,
"definition": "A cell found in an organism or derived from an organism exhibiting a phenotype that deviates from the expected phenotype of any native cell type of that organism. Abnormal cells are typically found in disease states or disease models.",
"id": "AbnormalCell",
"label": "abnormal cell",
"logical_definition": null,
"original_id": "CL:0001061",
"relationships": [
{
"predicate": "subClassOf",
"target": "Cell"
}
]
} | 0 | {
"document": "abnormal cell A cell found in an organism or derived from an organism exhibiting a phenotype that deviates from the expected phenotype of any native cell type of that organism. Abnormal cells are typically found in disease states or disease models. [{'predicate': 'subClassOf', 'target': 'Cell'}]"
} |
{
"aliases": null,
"definition": "Any anomaly of cell structure.",
"id": "AbnormalCellMorphology",
"label": "Abnormal cell morphology",
"logical_definition": null,
"original_id": "HP:0025461",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCellularPhenotype"
}
]
} | 0 | {
"document": "Abnormal cell morphology Any anomaly of cell structure. [{'predicate': 'subClassOf', 'target': 'AbnormalCellularPhenotype'}]"
} |
{
"aliases": null,
"definition": "Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.",
"id": "AbnormalCellProliferation",
"label": "Abnormal cell proliferation",
"logical_definition": null,
"original_id": "HP:0031377",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCellularPhysiology"
}
]
} | 0 | {
"document": "Abnormal cell proliferation Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. [{'predicate': 'subClassOf', 'target': 'AbnormalCellularPhysiology'}]"
} |
{
"aliases": null,
"definition": "Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.",
"id": "AbnormalCellularCompositionOfBronchoalveolarFluid",
"label": "Abnormal cellular composition of bronchoalveolar fluid",
"logical_definition": null,
"original_id": "HP:0032974",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBronchoalveolarLavageFluidMorphology"
}
]
} | 0 | {
"document": "Abnormal cellular composition of bronchoalveolar fluid Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. [{'predicate': 'subClassOf', 'target': 'AbnormalBronchoalveolarLavageFluidMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the morphology or counts of the cells that make up the immune system.",
"id": "AbnormalCellularImmuneSystemMorphology",
"label": "Abnormal cellular immune system morphology",
"logical_definition": null,
"original_id": "HP:0010987",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalImmuneSystemMorphology"
}
]
} | 0 | {
"document": "Abnormal cellular immune system morphology An abnormality of the morphology or counts of the cells that make up the immune system. [{'predicate': 'subClassOf', 'target': 'AbnormalImmuneSystemMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of cellular morphology or physiology.",
"id": "AbnormalCellularPhenotype",
"label": "Abnormal cellular phenotype",
"logical_definition": null,
"original_id": "HP:0025354",
"relationships": [
{
"predicate": "subClassOf",
"target": "PhenotypicAbnormality"
}
]
} | 0 | {
"document": "Abnormal cellular phenotype An anomaly of cellular morphology or physiology. [{'predicate': 'subClassOf', 'target': 'PhenotypicAbnormality'}]"
} |
{
"aliases": null,
"definition": "An abnormality in a cellular process.",
"id": "AbnormalCellularPhysiology",
"label": "Abnormal cellular physiology",
"logical_definition": null,
"original_id": "HP:0011017",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMetabolismHomeostasis"
},
{
"predicate": "subClassOf",
"target": "AbnormalCellularPhenotype"
}
]
} | 0 | {
"document": "Abnormal cellular physiology An abnormality in a cellular process. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}, {'predicate': 'subClassOf', 'target': 'AbnormalCellularPhenotype'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).",
"id": "AbnormalCementumMorphology",
"label": "Abnormal cementum morphology",
"logical_definition": null,
"original_id": "HP:0100717",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfDentalStructure"
},
{
"predicate": "subClassOf",
"target": "AbnormalOdontoidTissueMorphology"
}
]
} | 0 | {
"document": "Abnormal cementum morphology Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). [{'predicate': 'subClassOf', 'target': 'AbnormalityOfDentalStructure'}, {'predicate': 'subClassOf', 'target': 'AbnormalOdontoidTissueMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.",
"id": "AbnormalCentralMicrotubularPairMorphologyOfRespiratoryMotileCilia",
"label": "Abnormal central microtubular pair morphology of respiratory motile cilia",
"logical_definition": null,
"original_id": "HP:0012260",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratoryMotileCiliumMorphology"
}
]
} | 0 | {
"document": "Abnormal central microtubular pair morphology of respiratory motile cilia A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratoryMotileCiliumMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the control or production of movement in the central nervous system.",
"id": "AbnormalCentralMotorFunction",
"label": "Abnormal central motor function",
"logical_definition": null,
"original_id": "HP:0011442",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNervousSystemPhysiology"
}
]
} | 0 | {
"document": "Abnormal central motor function An anomaly of the control or production of movement in the central nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalNervousSystemPhysiology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalCentralResponseOfMultifocalElectroretinogram",
"label": "Abnormal central response of multifocal electroretinogram",
"logical_definition": null,
"original_id": "HP:0030488",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMultifocalElectroretinogram"
}
]
} | 0 | {
"document": "Abnormal central response of multifocal electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalMultifocalElectroretinogram'}]"
} |
{
"aliases": null,
"definition": "An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.",
"id": "AbnormalCentralSensoryFunction",
"label": "Abnormal central sensory function",
"logical_definition": null,
"original_id": "HP:0011730",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNervousSystemPhysiology"
}
]
} | 0 | {
"document": "Abnormal central sensory function An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. [{'predicate': 'subClassOf', 'target': 'AbnormalNervousSystemPhysiology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the cortex of the cerebellum.",
"id": "AbnormalCerebellarCortexMorphology",
"label": "Abnormal cerebellar cortex morphology",
"logical_definition": null,
"original_id": "HP:0031422",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebellumMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebellar cortex morphology Any structural anomaly of the cortex of the cerebellum. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebellumMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.",
"id": "AbnormalCerebellarPeduncleMorphology",
"label": "Abnormal cerebellar peduncle morphology",
"logical_definition": null,
"original_id": "HP:0011931",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebellumMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalBrainstemWhiteMatterMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebellar peduncle morphology An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebellumMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalBrainstemWhiteMatterMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the vermis of cerebellum.",
"id": "AbnormalCerebellarVermisMorphology",
"label": "Abnormal cerebellar vermis morphology",
"logical_definition": null,
"original_id": "HP:0002334",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebellumMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebellumMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the cerebellum.",
"id": "AbnormalCerebellumMorphology",
"label": "Abnormal cerebellum morphology",
"logical_definition": null,
"original_id": "HP:0001317",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetencephalonMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebellum morphology Any structural abnormality of the cerebellum. [{'predicate': 'subClassOf', 'target': 'AbnormalMetencephalonMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.",
"id": "AbnormalCerebralArteryMorphology",
"label": "Abnormal cerebral artery morphology",
"logical_definition": null,
"original_id": "HP:0009145",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSystemicArterialMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalCerebralVascularMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral artery morphology Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalCerebralVascularMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the cerebral cortex.",
"id": "AbnormalCerebralCortexMorphology",
"label": "Abnormal cerebral cortex morphology",
"logical_definition": null,
"original_id": "HP:0002538",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral cortex morphology Any structural abnormality of the cerebral cortex. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the telencephalon, which is also known as the cerebrum.",
"id": "AbnormalCerebralMorphology",
"label": "Abnormal cerebral morphology",
"logical_definition": null,
"original_id": "HP:0002060",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalForebrainMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. [{'predicate': 'subClassOf', 'target': 'AbnormalForebrainMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the cerebral subcortex.",
"id": "AbnormalCerebralSubcortexMorphology",
"label": "Abnormal cerebral subcortex morphology",
"logical_definition": null,
"original_id": "HP:0010993",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral subcortex morphology An abnormality of the cerebral subcortex. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the cerebral blood vessels.",
"id": "AbnormalCerebralVascularMorphology",
"label": "Abnormal cerebral vascular morphology",
"logical_definition": null,
"original_id": "HP:0100659",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBrainMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalVascularMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBrainMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalVascularMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of cerebral veins.",
"id": "AbnormalCerebralVeinMorphology",
"label": "Abnormal cerebral vein morphology",
"logical_definition": null,
"original_id": "HP:0012480",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralVascularMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral vein morphology An anomaly of cerebral veins. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralVascularMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.",
"id": "AbnormalCerebralVenousSinusMorphology",
"label": "Abnormal cerebral venous sinus morphology",
"logical_definition": null,
"original_id": "HP:0033723",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralVeinMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral venous sinus morphology Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralVeinMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the cerebral ventricles.",
"id": "AbnormalCerebralVentricleMorphology",
"label": "Abnormal cerebral ventricle morphology",
"logical_definition": null,
"original_id": "HP:0002118",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBrainMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral ventricle morphology Any structural abnormality of the cerebral ventricles. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBrainMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the cerebral white matter.",
"id": "AbnormalCerebralWhiteMatterMorphology",
"label": "Abnormal cerebral white matter morphology",
"logical_definition": null,
"original_id": "HP:0002500",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralSubcortexMorphology"
}
]
} | 0 | {
"document": "Abnormal cerebral white matter morphology An abnormality of the cerebral white matter. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralSubcortexMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the cerebrospinal fluid (CSF).",
"id": "AbnormalCerebrospinalFluidMorphology",
"label": "Abnormal cerebrospinal fluid morphology",
"logical_definition": null,
"original_id": "HP:0002921",
"relationships": [
{
"predicate": "subClassOf",
"target": "MorphologicalCentralNervousSystemAbnormality"
}
]
} | 0 | {
"document": "Abnormal cerebrospinal fluid morphology An abnormality of the cerebrospinal fluid (CSF). [{'predicate': 'subClassOf', 'target': 'MorphologicalCentralNervousSystemAbnormality'}]"
} |
{
"aliases": null,
"definition": "An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.",
"id": "AbnormalCerumenColor",
"label": "Abnormal cerumen color",
"logical_definition": null,
"original_id": "HP:0030790",
"relationships": [
{
"predicate": "subClassOf",
"target": "CerumenAbnormality"
}
]
} | 0 | {
"document": "Abnormal cerumen color An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. [{'predicate': 'subClassOf', 'target': 'CerumenAbnormality'}]"
} |
{
"aliases": null,
"definition": "The presence of an abnormal curvature of the cervical vertebral column.",
"id": "AbnormalCervicalCurvature",
"label": "Abnormal cervical curvature",
"logical_definition": null,
"original_id": "HP:0005905",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCurvatureOfTheVertebralColumn"
},
{
"predicate": "subClassOf",
"target": "AbnormalCervicalSpineMorphology"
}
]
} | 0 | {
"document": "Abnormal cervical curvature The presence of an abnormal curvature of the cervical vertebral column. [{'predicate': 'subClassOf', 'target': 'AbnormalCurvatureOfTheVertebralColumn'}, {'predicate': 'subClassOf', 'target': 'AbnormalCervicalSpineMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalCervicalMyelogram",
"label": "Abnormal cervical myelogram",
"logical_definition": null,
"original_id": "HP:0005788",
"relationships": [
{
"predicate": "subClassOf",
"target": "CervicalMyelopathy"
}
]
} | 0 | {
"document": "Abnormal cervical myelogram None [{'predicate': 'subClassOf', 'target': 'CervicalMyelopathy'}]"
} |
{
"aliases": null,
"definition": "Any morphological abnormality of the cervical vertebral column.",
"id": "AbnormalCervicalSpineMorphology",
"label": "Abnormal cervical spine morphology",
"logical_definition": null,
"original_id": "HP:0046508",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheCervicalSpine"
},
{
"predicate": "subClassOf",
"target": "AbnormalVertebralMorphology"
}
]
} | 0 | {
"document": "Abnormal cervical spine morphology Any morphological abnormality of the cervical vertebral column. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheCervicalSpine'}, {'predicate': 'subClassOf', 'target': 'AbnormalVertebralMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface",
"id": "AbnormalCheekMorphology",
"label": "Abnormal cheek morphology",
"logical_definition": null,
"original_id": "HP:0004426",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMidfaceMorphology"
}
]
} | 0 | {
"document": "Abnormal cheek morphology An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface [{'predicate': 'subClassOf', 'target': 'AbnormalMidfaceMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.",
"id": "AbnormalChondrocyteMorphology",
"label": "Abnormal chondrocyte morphology",
"logical_definition": null,
"original_id": "HP:0032929",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCartilageMorphology"
}
]
} | 0 | {
"document": "Abnormal chondrocyte morphology Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. [{'predicate': 'subClassOf', 'target': 'AbnormalCartilageMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the fetal part of the placenta, which is known as the chorion.",
"id": "AbnormalChorionMorphology",
"label": "Abnormal chorion morphology",
"logical_definition": null,
"original_id": "HP:0033042",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPlacentaMorphology"
}
]
} | 0 | {
"document": "Abnormal chorion morphology Any structural anomaly of the fetal part of the placenta, which is known as the chorion. [{'predicate': 'subClassOf', 'target': 'AbnormalPlacentaMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the choroid and retina.",
"id": "AbnormalChorioretinalMorphology",
"label": "Abnormal chorioretinal morphology",
"logical_definition": null,
"original_id": "HP:0000532",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRetinalMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalChoroidMorphology"
}
]
} | 0 | {
"document": "Abnormal chorioretinal morphology An abnormality of the choroid and retina. [{'predicate': 'subClassOf', 'target': 'AbnormalRetinalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalChoroidMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the choroid.",
"id": "AbnormalChoroidMorphology",
"label": "Abnormal choroid morphology",
"logical_definition": null,
"original_id": "HP:0000610",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUveaMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFundusMorphology"
}
]
} | 0 | {
"document": "Abnormal choroid morphology Any structural abnormality of the choroid. [{'predicate': 'subClassOf', 'target': 'AbnormalUveaMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFundusMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.",
"id": "AbnormalChoroidPlexusMorphology",
"label": "Abnormal choroid plexus morphology",
"logical_definition": null,
"original_id": "HP:0007376",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralVentricleMorphology"
}
]
} | 0 | {
"document": "Abnormal choroid plexus morphology An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralVentricleMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.",
"id": "AbnormalChromosomeMorphology",
"label": "Abnormal chromosome morphology",
"logical_definition": null,
"original_id": "HP:0031411",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCellMorphology"
}
]
} | 0 | {
"document": "Abnormal chromosome morphology Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. [{'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal circulating concentration of chylomicrons.",
"id": "AbnormalChylomicronConcentration",
"label": "Abnormal chylomicron concentration",
"logical_definition": null,
"original_id": "HP:0031887",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfLipoproteinCholesterolConcentration"
}
]
} | 0 | {
"document": "Abnormal chylomicron concentration Any deviation from the normal circulating concentration of chylomicrons. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLipoproteinCholesterolConcentration'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the ciliary body.",
"id": "AbnormalCiliaryBodyMorphology",
"label": "Abnormal ciliary body morphology",
"logical_definition": null,
"original_id": "HP:0012776",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUveaMorphology"
}
]
} | 0 | {
"document": "Abnormal ciliary body morphology A structural anomaly of the ciliary body. [{'predicate': 'subClassOf', 'target': 'AbnormalUveaMorphology'}]"
} |
{
"aliases": null,
"definition": "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.",
"id": "AbnormalCiliaryMotility",
"label": "Abnormal ciliary motility",
"logical_definition": null,
"original_id": "HP:0012262",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratoryMotileCiliumPhysiology"
}
]
} | 0 | {
"document": "Abnormal ciliary motility Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratoryMotileCiliumPhysiology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the circle of Willis, also known as the cerebral arterial circle.",
"id": "AbnormalCircleOfWillisMorphology",
"label": "Abnormal circle of Willis morphology",
"logical_definition": null,
"original_id": "HP:0012518",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCerebralArteryMorphology"
}
]
} | 0 | {
"document": "Abnormal circle of Willis morphology An anomaly of the circle of Willis, also known as the cerebral arterial circle. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralArteryMorphology'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.",
"id": "AbnormalCirculating18HydroxycorticosteroneLevel",
"label": "Abnormal circulating 18-hydroxycorticosterone level",
"logical_definition": null,
"original_id": "HP:0020198",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingCorticosteroneLevel"
}
]
} | 0 | {
"document": "Abnormal circulating 18-hydroxycorticosterone level Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingCorticosteroneLevel'}]"
} |
{
"aliases": null,
"definition": "A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.",
"id": "AbnormalCirculatingATypeAtrialNatriureticPeptideConcentration",
"label": "Abnormal circulating A-type atrial natriuretic peptide concentration",
"logical_definition": null,
"original_id": "HP:0020182",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating A-type atrial natriuretic peptide concentration A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.",
"id": "AbnormalCirculatingAcetylcarnitineConcentration",
"label": "Abnormal circulating acetylcarnitine concentration",
"logical_definition": null,
"original_id": "HP:0012071",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingCarnitineConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating acetylcarnitine concentration Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingCarnitineConcentration'}]"
} |
{
"aliases": null,
"definition": "An abnormal concentration of corticotropin in the blood.",
"id": "AbnormalCirculatingAdrenocorticotropinConcentration",
"label": "Abnormal circulating adrenocorticotropin concentration",
"logical_definition": null,
"original_id": "HP:0011043",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingHormoneConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating adrenocorticotropin concentration An abnormal concentration of corticotropin in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingHormoneConcentration'}]"
} |
{
"aliases": null,
"definition": "An abnormality of an alanine metabolic process.",
"id": "AbnormalCirculatingAlanineConcentration",
"label": "Abnormal circulating alanine concentration",
"logical_definition": null,
"original_id": "HP:0010916",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingPyruvateFamilyAminoAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating alanine concentration An abnormality of an alanine metabolic process. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingPyruvateFamilyAminoAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "Deviation from normal concentration of albumin in the blood.",
"id": "AbnormalCirculatingAlbuminConcentration",
"label": "Abnormal circulating albumin concentration",
"logical_definition": null,
"original_id": "HP:0012116",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating albumin concentration Deviation from normal concentration of albumin in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.",
"id": "AbnormalCirculatingAldolaseConcentration",
"label": "Abnormal circulating aldolase concentration",
"logical_definition": null,
"original_id": "HP:0012400",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingEnzymeConcentrationOrActivity"
}
]
} | 0 | {
"document": "Abnormal circulating aldolase concentration An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalCirculatingAldosterone",
"label": "Abnormal circulating aldosterone",
"logical_definition": null,
"original_id": "HP:0040085",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfReninAngiotensinSystem"
}
]
} | 0 | {
"document": "Abnormal circulating aldosterone None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfReninAngiotensinSystem'}]"
} |
{
"aliases": null,
"definition": "Concentration of alpha-fetoprotein in the blood circulation outside normal limits.",
"id": "AbnormalCirculatingAlphaFetoproteinConcentration",
"label": "Abnormal circulating alpha-fetoprotein concentration",
"logical_definition": null,
"original_id": "HP:0045056",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating alpha-fetoprotein concentration Concentration of alpha-fetoprotein in the blood circulation outside normal limits. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.",
"id": "AbnormalCirculatingAminoAcidConcentration",
"label": "Abnormal circulating amino acid concentration",
"logical_definition": null,
"original_id": "HP:0003112",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingCarboxylicAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating amino acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingCarboxylicAcidConcentration'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalCirculatingAminoSulfonicAcidConcentration",
"label": "Abnormal circulating amino sulfonic acid concentration",
"logical_definition": null,
"original_id": "HP:0500180",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingMetaboliteConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating amino sulfonic acid concentration None [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingMetaboliteConcentration'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.",
"id": "AbnormalCirculatingAmylaseConcentration",
"label": "Abnormal circulating amylase concentration",
"logical_definition": null,
"original_id": "HP:0410282",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating amylase concentration A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.",
"id": "AbnormalCirculatingAndrogenLevel",
"label": "Abnormal circulating androgen level",
"logical_definition": null,
"original_id": "HP:0030347",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingSexHormoneConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating androgen level An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingSexHormoneConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of androstenedione in the blood circulation.",
"id": "AbnormalCirculatingAndrostenedioneConcentration",
"label": "Abnormal circulating androstenedione concentration",
"logical_definition": null,
"original_id": "HP:0033811",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingAndrogenLevel"
}
]
} | 0 | {
"document": "Abnormal circulating androstenedione concentration Any deviation from the normal concentration of androstenedione in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingAndrogenLevel'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.",
"id": "AbnormalCirculatingAntimullerianHormoneConcentration",
"label": "Abnormal circulating antimullerian hormone concentration",
"logical_definition": null,
"original_id": "HP:0031101",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingHormoneConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating antimullerian hormone concentration Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingHormoneConcentration'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.",
"id": "AbnormalCirculatingApolipoproteinConcentration",
"label": "Abnormal circulating apolipoprotein concentration",
"logical_definition": null,
"original_id": "HP:0025201",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating apolipoprotein concentration A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of arginine in the blood circulation.",
"id": "AbnormalCirculatingArginineConcentration",
"label": "Abnormal circulating arginine concentration",
"logical_definition": null,
"original_id": "HP:0010909",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingGlutamineFamilyAminoAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating arginine concentration Any deviation from the normal concentration of arginine in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingGlutamineFamilyAminoAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.",
"id": "AbnormalCirculatingAromaticAminoAcidConcentration",
"label": "Abnormal circulating aromatic amino acid concentration",
"logical_definition": null,
"original_id": "HP:0004338",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinogenicAminoAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinogenicAminoAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of asparagine in the blood circulation.",
"id": "AbnormalCirculatingAsparagineConcentration",
"label": "Abnormal circulating asparagine concentration",
"logical_definition": null,
"original_id": "HP:0500155",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingAspartateFamilyAminoAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating asparagine concentration Any deviation from the normal concentration of asparagine in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingAspartateFamilyAminoAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.",
"id": "AbnormalCirculatingAspartateFamilyAminoAcidConcentration",
"label": "Abnormal circulating aspartate family amino acid concentration",
"logical_definition": null,
"original_id": "HP:0010899",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinogenicAminoAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating aspartate family amino acid concentration Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinogenicAminoAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of aspartate in the blood circulation.",
"id": "AbnormalCirculatingAsparticAcidConcentration",
"label": "Abnormal circulating aspartic acid concentration",
"logical_definition": null,
"original_id": "HP:0500158",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingAspartateFamilyAminoAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating aspartic acid concentration Any deviation from the normal concentration of aspartate in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingAspartateFamilyAminoAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.",
"id": "AbnormalCirculatingBetaCTerminalTelopeptideConcentration",
"label": "Abnormal circulating beta-C-terminal telopeptide concentration",
"logical_definition": null,
"original_id": "HP:0031424",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating beta-C-terminal telopeptide concentration A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.",
"id": "AbnormalCirculatingBetaGlobulinLevel",
"label": "Abnormal circulating beta globulin level",
"logical_definition": null,
"original_id": "HP:0025465",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingGlobulinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating beta globulin level A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingGlobulinConcentration'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalCirculatingBilirubinConcentration",
"label": "Abnormal circulating bilirubin concentration",
"logical_definition": null,
"original_id": "HP:0033479",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingDicarboxylicAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating bilirubin concentration None [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingDicarboxylicAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal concentration of biopterin in the blood circulation.",
"id": "AbnormalCirculatingBiopterinConcentration",
"label": "Abnormal circulating biopterin concentration",
"logical_definition": null,
"original_id": "HP:0040210",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingNitrogenCompoundConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating biopterin concentration A deviation from the normal concentration of biopterin in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingNitrogenCompoundConcentration'}]"
} |
{
"aliases": null,
"definition": "An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.",
"id": "AbnormalCirculatingBiotinidaseConcentration",
"label": "Abnormal circulating biotinidase concentration",
"logical_definition": null,
"original_id": "HP:0410144",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingEnzymeConcentrationOrActivity"
}
]
} | 0 | {
"document": "Abnormal circulating biotinidase concentration An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.",
"id": "AbnormalCirculatingBranchedChainAminoAcidConcentration",
"label": "Abnormal circulating branched chain amino acid concentration",
"logical_definition": null,
"original_id": "HP:0010892",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinogenicAminoAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinogenicAminoAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.",
"id": "AbnormalCirculatingCPeptideConcentration",
"label": "Abnormal circulating C-peptide concentration",
"logical_definition": null,
"original_id": "HP:0030794",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating C-peptide concentration An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of C-reactive protein in the blood circulation.",
"id": "AbnormalCirculatingCReactiveProteinConcentration",
"label": "Abnormal circulating C-reactive protein concentration",
"logical_definition": null,
"original_id": "HP:0032436",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating C-reactive protein concentration Any deviation from the normal concentration of C-reactive protein in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of calcium in the blood circulation.",
"id": "AbnormalCirculatingCalciumConcentration",
"label": "Abnormal circulating calcium concentration",
"logical_definition": null,
"original_id": "HP:0004363",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBloodInorganicCationConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodInorganicCationConcentration'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal concentration of a carbohydrate in the blood circulation.",
"id": "AbnormalCirculatingCarbohydrateConcentration",
"label": "Abnormal circulating carbohydrate concentration",
"logical_definition": null,
"original_id": "HP:0011013",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingMetaboliteConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating carbohydrate concentration A deviation from the normal concentration of a carbohydrate in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingMetaboliteConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of a carboxylic acid in the blood circulation.",
"id": "AbnormalCirculatingCarboxylicAcidConcentration",
"label": "Abnormal circulating carboxylic acid concentration",
"logical_definition": null,
"original_id": "HP:0004354",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingMetaboliteConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingMetaboliteConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of carnitine in the blood circulation.",
"id": "AbnormalCirculatingCarnitineConcentration",
"label": "Abnormal circulating carnitine concentration",
"logical_definition": null,
"original_id": "HP:0010967",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingFattyAcidAnionConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating carnitine concentration Any deviation from the normal concentration of carnitine in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingFattyAcidAnionConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal concentration of carnosine in the blood circulation.",
"id": "AbnormalCirculatingCarnosineConcentration",
"label": "Abnormal circulating carnosine concentration",
"logical_definition": null,
"original_id": "HP:0500160",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingCarboxylicAcidConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating carnosine concentration Any deviation from the normal concentration of carnosine in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingCarboxylicAcidConcentration'}]"
} |
{
"aliases": null,
"definition": "Any deviation of the concentration of ceruloplasmin in the blood from the normal range.",
"id": "AbnormalCirculatingCeruloplasminConcentration",
"label": "Abnormal circulating ceruloplasmin concentration",
"logical_definition": null,
"original_id": "HP:0033144",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCirculatingProteinConcentration"
}
]
} | 0 | {
"document": "Abnormal circulating ceruloplasmin concentration Any deviation of the concentration of ceruloplasmin in the blood from the normal range. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]"
} |
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