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{ "aliases": null, "definition": "An abnormality of the concentration of glucose in the blood.", "id": "AbnormalBloodGlucoseConcentration", "label": "Abnormal blood glucose concentration", "logical_definition": null, "original_id": "HP:0011015", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalGlucoseHomeostasis" } ] }
0
{ "document": "Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalGlucoseHomeostasis'}]" }
{ "aliases": null, "definition": "An abnormality of divalent inorganic cation homeostasis.", "id": "AbnormalBloodInorganicCationConcentration", "label": "Abnormal blood inorganic cation concentration", "logical_definition": null, "original_id": "HP:0010927", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodCationConcentration" } ] }
0
{ "document": "Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodCationConcentration'}]" }
{ "aliases": null, "definition": "Abnormality of the homeostasis (concentration) of a monoatomic ion.", "id": "AbnormalBloodIonConcentration", "label": "Abnormal blood ion concentration", "logical_definition": null, "original_id": "HP:0003111", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingMetaboliteConcentration" } ] }
0
{ "document": "Abnormal blood ion concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "An abnormality of monovalent inorganic cation homeostasis.", "id": "AbnormalBloodMonovalentInorganicCationConcentration", "label": "Abnormal blood monovalent inorganic cation concentration", "logical_definition": null, "original_id": "HP:0010930", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodCationConcentration" } ] }
0
{ "document": "Abnormal blood monovalent inorganic cation concentration An abnormality of monovalent inorganic cation homeostasis. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodCationConcentration'}]" }
{ "aliases": null, "definition": "An abnormality of the partial pressure of oxygen in the arterial blood.", "id": "AbnormalBloodOxygenLevel", "label": "Abnormal blood oxygen level", "logical_definition": null, "original_id": "HP:0500165", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodGasLevel" } ] }
0
{ "document": "Abnormal blood oxygen level An abnormality of the partial pressure of oxygen in the arterial blood. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodGasLevel'}]" }
{ "aliases": null, "definition": "An abnormality of phosphate homeostasis or concentration in the body.", "id": "AbnormalBloodPhosphateConcentration", "label": "Abnormal blood phosphate concentration", "logical_definition": null, "original_id": "HP:0100529", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodIonConcentration" } ] }
0
{ "document": "Abnormal blood phosphate concentration An abnormality of phosphate homeostasis or concentration in the body. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodIonConcentration'}]" }
{ "aliases": null, "definition": "An abnormal concentration of potassium.", "id": "AbnormalBloodPotassiumConcentration", "label": "Abnormal blood potassium concentration", "logical_definition": null, "original_id": "HP:0011042", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodMonovalentInorganicCationConcentration" } ] }
0
{ "document": "Abnormal blood potassium concentration An abnormal concentration of potassium. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodMonovalentInorganicCationConcentration'}]" }
{ "aliases": null, "definition": "An abnormal concentration of sodium.", "id": "AbnormalBloodSodiumConcentration", "label": "Abnormal blood sodium concentration", "logical_definition": null, "original_id": "HP:0010931", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodMonovalentInorganicCationConcentration" } ] }
0
{ "document": "Abnormal blood sodium concentration An abnormal concentration of sodium. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodMonovalentInorganicCationConcentration'}]" }
{ "aliases": null, "definition": "An abnormality of the homeostasis (concentration) of transition element cation.", "id": "AbnormalBloodTransitionElementCationConcentration", "label": "Abnormal blood transition element cation concentration", "logical_definition": null, "original_id": "HP:0011030", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodCationConcentration" } ] }
0
{ "document": "Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodCationConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of urea nitrogen in the blood.", "id": "AbnormalBloodUreaNitrogenConcentration", "label": "Abnormal blood urea nitrogen concentration", "logical_definition": null, "original_id": "HP:0031970", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingNitrogenCompoundConcentration" } ] }
0
{ "document": "Abnormal blood urea nitrogen concentration Any deviation from the normal concentration of urea nitrogen in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingNitrogenCompoundConcentration'}]" }
{ "aliases": null, "definition": "Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).", "id": "AbnormalBloodVesselMorphology", "label": "Abnormal blood vessel morphology", "logical_definition": null, "original_id": "HP:0033353", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVascularMorphology" } ] }
0
{ "document": "Abnormal blood vessel morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). [{'predicate': 'subClassOf', 'target': 'AbnormalVascularMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of zinc ion homeostasis.", "id": "AbnormalBloodZincConcentration", "label": "Abnormal blood zinc concentration", "logical_definition": null, "original_id": "HP:0008277", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodTransitionElementCationConcentration" } ] }
0
{ "document": "Abnormal blood zinc concentration An abnormality of zinc ion homeostasis. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodTransitionElementCationConcentration'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.", "id": "AbnormalBoneCollagenFibrilMorphology", "label": "Abnormal bone collagen fibril morphology", "logical_definition": null, "original_id": "HP:0011862", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBoneStructure" } ] }
0
{ "document": "Abnormal bone collagen fibril morphology Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. [{'predicate': 'subClassOf', 'target': 'AbnormalBoneStructure'}]" }
{ "aliases": null, "definition": "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.", "id": "AbnormalBoneOssification", "label": "Abnormal bone ossification", "logical_definition": null, "original_id": "HP:0011849", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBoneStructure" } ] }
0
{ "document": "Abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. [{'predicate': 'subClassOf', 'target': 'AbnormalBoneStructure'}]" }
{ "aliases": null, "definition": "Any anomaly in the composite material or the layered arrangement of the bony skeleton.", "id": "AbnormalBoneStructure", "label": "Abnormal bone structure", "logical_definition": null, "original_id": "HP:0003330", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkeletalMorphology" } ] }
0
{ "document": "Abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.", "id": "AbnormalBowelSounds", "label": "Abnormal bowel sounds", "logical_definition": null, "original_id": "HP:0030142", "relationships": [ { "predicate": "subClassOf", "target": "AbdominalSymptom" } ] }
0
{ "document": "Abnormal bowel sounds An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. [{'predicate': 'subClassOf', 'target': 'AbdominalSymptom'}]" }
{ "aliases": null, "definition": "A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.", "id": "AbnormalBowmanCapsuleMorphology", "label": "Abnormal Bowman capsule morphology", "logical_definition": null, "original_id": "HP:0031264", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRenalCorpuscleMorphology" } ] }
0
{ "document": "Abnormal Bowman capsule morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. [{'predicate': 'subClassOf', 'target': 'AbnormalRenalCorpuscleMorphology'}]" }
{ "aliases": null, "definition": "Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.", "id": "AbnormalBowmanSpaceMorphology", "label": "Abnormal Bowman space morphology", "logical_definition": null, "original_id": "HP:0033312", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBowmanCapsuleMorphology" } ] }
0
{ "document": "Abnormal Bowman space morphology Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. [{'predicate': 'subClassOf', 'target': 'AbnormalBowmanCapsuleMorphology'}]" }
{ "aliases": null, "definition": "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).", "id": "AbnormalBrainCholineCreatineRatioByMRS", "label": "Abnormal brain choline/creatine ratio by MRS", "logical_definition": null, "original_id": "HP:0012709", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMetabolicBrainImagingByMRS" } ] }
0
{ "document": "Abnormal brain choline/creatine ratio by MRS A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). [{'predicate': 'subClassOf', 'target': 'AbnormalMetabolicBrainImagingByMRS'}]" }
{ "aliases": null, "definition": "A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).", "id": "AbnormalBrainCholineLevelByMRS", "label": "Abnormal brain choline level by MRS", "logical_definition": null, "original_id": "HP:0025047", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMetabolicBrainImagingByMRS" } ] }
0
{ "document": "Abnormal brain choline level by MRS A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). [{'predicate': 'subClassOf', 'target': 'AbnormalMetabolicBrainImagingByMRS'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalBrainCreatineLevelByMRS", "label": "Abnormal brain creatine level by MRS", "logical_definition": null, "original_id": "HP:0025049", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMetabolicBrainImagingByMRS" } ] }
0
{ "document": "Abnormal brain creatine level by MRS None [{'predicate': 'subClassOf', 'target': 'AbnormalMetabolicBrainImagingByMRS'}]" }
{ "aliases": null, "definition": "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.", "id": "AbnormalBrainFDGPositronEmissionTomography", "label": "Abnormal brain FDG positron emission tomography", "logical_definition": null, "original_id": "HP:0012658", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBrainPositronEmissionTomography" } ] }
0
{ "document": "Abnormal brain FDG positron emission tomography An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. [{'predicate': 'subClassOf', 'target': 'AbnormalBrainPositronEmissionTomography'}]" }
{ "aliases": null, "definition": "A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).", "id": "AbnormalBrainGlutamineLevelByMRS", "label": "Abnormal brain glutamine level by MRS", "logical_definition": null, "original_id": "HP:0034496", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMetabolicBrainImagingByMRS" } ] }
0
{ "document": "Abnormal brain glutamine level by MRS A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). [{'predicate': 'subClassOf', 'target': 'AbnormalMetabolicBrainImagingByMRS'}]" }
{ "aliases": null, "definition": "A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).", "id": "AbnormalBrainLactateLevelByMRS", "label": "Abnormal brain lactate level by MRS", "logical_definition": null, "original_id": "HP:0025045", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMetabolicBrainImagingByMRS" } ] }
0
{ "document": "Abnormal brain lactate level by MRS A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). [{'predicate': 'subClassOf', 'target': 'AbnormalMetabolicBrainImagingByMRS'}]" }
{ "aliases": null, "definition": "A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).", "id": "AbnormalBrainNAcetylAspartateLevelByMRS", "label": "Abnormal brain N-acetyl aspartate level by MRS", "logical_definition": null, "original_id": "HP:0025052", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMetabolicBrainImagingByMRS" } ] }
0
{ "document": "Abnormal brain N-acetyl aspartate level by MRS A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). [{'predicate': 'subClassOf', 'target': 'AbnormalMetabolicBrainImagingByMRS'}]" }
{ "aliases": null, "definition": "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.", "id": "AbnormalBrainPositronEmissionTomography", "label": "Abnormal brain positron emission tomography", "logical_definition": null, "original_id": "HP:0012657", "relationships": [ { "predicate": "subClassOf", "target": "BrainImagingAbnormality" } ] }
0
{ "document": "Abnormal brain positron emission tomography A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. [{'predicate': 'subClassOf', 'target': 'BrainImagingAbnormality'}]" }
{ "aliases": null, "definition": "A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.", "id": "AbnormalBrainstemMRISignalIntensity", "label": "Abnormal brainstem MRI signal intensity", "logical_definition": null, "original_id": "HP:0012747", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBrainstemMorphology" } ] }
0
{ "document": "Abnormal brainstem MRI signal intensity A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. [{'predicate': 'subClassOf', 'target': 'AbnormalBrainstemMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the brainstem.", "id": "AbnormalBrainstemMorphology", "label": "Abnormal brainstem morphology", "logical_definition": null, "original_id": "HP:0002363", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfBrainMorphology" } ] }
0
{ "document": "Abnormal brainstem morphology An anomaly of the brainstem. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBrainMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the white matter of brainstem.", "id": "AbnormalBrainstemWhiteMatterMorphology", "label": "Abnormal brainstem white matter morphology", "logical_definition": null, "original_id": "HP:0012501", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBrainstemMorphology" } ] }
0
{ "document": "Abnormal brainstem white matter morphology An anomaly of the white matter of brainstem. [{'predicate': 'subClassOf', 'target': 'AbnormalBrainstemMorphology'}]" }
{ "aliases": null, "definition": "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).", "id": "AbnormalBranchingPatternOfLeftAorticArch", "label": "Abnormal branching pattern of left aortic arch", "logical_definition": null, "original_id": "HP:0031055", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBranchingPatternOfTheAorticArch" } ] }
0
{ "document": "Abnormal branching pattern of left aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). [{'predicate': 'subClassOf', 'target': 'AbnormalBranchingPatternOfTheAorticArch'}]" }
{ "aliases": null, "definition": "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.", "id": "AbnormalBranchingPatternOfTheAorticArch", "label": "Abnormal branching pattern of the aortic arch", "logical_definition": null, "original_id": "HP:0011587", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalAorticArchMorphology" } ] }
0
{ "document": "Abnormal branching pattern of the aortic arch A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. [{'predicate': 'subClassOf', 'target': 'AbnormalAorticArchMorphology'}]" }
{ "aliases": null, "definition": "Any anomaly of the structure of the breast.", "id": "AbnormalBreastMorphology", "label": "Abnormal breast morphology", "logical_definition": null, "original_id": "HP:0031093", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheBreast" } ] }
0
{ "document": "Abnormal breast morphology Any anomaly of the structure of the breast. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheBreast'}]" }
{ "aliases": null, "definition": "Any anomaly of the function of the breast.", "id": "AbnormalBreastPhysiology", "label": "Abnormal breast physiology", "logical_definition": null, "original_id": "HP:0031094", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheBreast" } ] }
0
{ "document": "Abnormal breast physiology Any anomaly of the function of the breast. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheBreast'}]" }
{ "aliases": null, "definition": "An anomalous (adventitious) sound produced by the breathing process.", "id": "AbnormalBreathSound", "label": "Abnormal breath sound", "logical_definition": null, "original_id": "HP:0030829", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRespiratorySystemPhysiology" } ] }
0
{ "document": "Abnormal breath sound An anomalous (adventitious) sound produced by the breathing process. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratorySystemPhysiology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of a bronchial artery.", "id": "AbnormalBronchialArteryMorphology", "label": "Abnormal bronchial artery morphology", "logical_definition": null, "original_id": "HP:0033388", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSystemicArterialMorphology" } ] }
0
{ "document": "Abnormal bronchial artery morphology Any structural abnormality of a bronchial artery. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of protein in the bronchoalveolar fluid.", "id": "AbnormalBronchoalveolarFluidProteinLevel", "label": "Abnormal bronchoalveolar fluid protein level", "logical_definition": null, "original_id": "HP:0032975", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBronchoalveolarLavageFluidMorphology" } ] }
0
{ "document": "Abnormal bronchoalveolar fluid protein level Any deviation from the normal concentration of protein in the bronchoalveolar fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalBronchoalveolarLavageFluidMorphology'}]" }
{ "aliases": null, "definition": "Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.", "id": "AbnormalBronchoalveolarLavageFluidMorphology", "label": "Abnormal bronchoalveolar lavage fluid morphology", "logical_definition": null, "original_id": "HP:0032973", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLungMorphology" } ] }
0
{ "document": "Abnormal bronchoalveolar lavage fluid morphology Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. [{'predicate': 'subClassOf', 'target': 'AbnormalLungMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.", "id": "AbnormalBronchusMorphology", "label": "Abnormal bronchus morphology", "logical_definition": null, "original_id": "HP:0025426", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTracheobronchialMorphology" } ] }
0
{ "document": "Abnormal bronchus morphology Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. [{'predicate': 'subClassOf', 'target': 'AbnormalTracheobronchialMorphology'}]" }
{ "aliases": null, "definition": "Any anomaly of the function of the bronchi.", "id": "AbnormalBronchusPhysiology", "label": "Abnormal bronchus physiology", "logical_definition": null, "original_id": "HP:0025427", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRespiratorySystemPhysiology" } ] }
0
{ "document": "Abnormal bronchus physiology Any anomaly of the function of the bronchi. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratorySystemPhysiology'}]" }
{ "aliases": null, "definition": "An abnormality of a buccal fat pad.", "id": "AbnormalBuccalFatPadMorphology", "label": "Abnormal buccal fat pad morphology", "logical_definition": null, "original_id": "HP:3000021", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCheekMorphology" } ] }
0
{ "document": "Abnormal buccal fat pad morphology An abnormality of a buccal fat pad. [{'predicate': 'subClassOf', 'target': 'AbnormalCheekMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).", "id": "AbnormalBuccalMucosaCellMorphology", "label": "Abnormal buccal mucosa cell morphology", "logical_definition": null, "original_id": "HP:0031476", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCellMorphology" } ] }
0
{ "document": "Abnormal buccal mucosa cell morphology Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). [{'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of a buccal mucosa.", "id": "AbnormalBuccalMucosaMorphology", "label": "Abnormal buccal mucosa morphology", "logical_definition": null, "original_id": "HP:3000019", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCheekMorphology" } ] }
0
{ "document": "Abnormal buccal mucosa morphology An abnormality of a buccal mucosa. [{'predicate': 'subClassOf', 'target': 'AbnormalCheekMorphology'}]" }
{ "aliases": null, "definition": "Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.", "id": "AbnormalBulbusCordisMorphology", "label": "Abnormal bulbus cordis morphology", "logical_definition": null, "original_id": "HP:0032580", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHeartMorphology" } ] }
0
{ "document": "Abnormal bulbus cordis morphology Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]" }
{ "aliases": null, "definition": "Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.", "id": "AbnormalCD25UpregulationUponTCRActivation", "label": "Abnormal CD25 upregulation upon TCR activation", "logical_definition": null, "original_id": "HP:0031269", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellActivation" } ] }
0
{ "document": "Abnormal CD25 upregulation upon TCR activation Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellActivation'}]" }
{ "aliases": null, "definition": "A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.", "id": "AbnormalCD4CD25_regulatoryTCellProportion", "label": "Abnormal CD4+CD25+ regulatory T cell proportion", "logical_definition": null, "original_id": "HP:0020111", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal CD4+CD25+ regulatory T cell proportion A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.", "id": "AbnormalCD4CD8Ratio", "label": "Abnormal CD4:CD8 ratio", "logical_definition": null, "original_id": "HP:0031394", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal CD4:CD8 ratio Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.", "id": "AbnormalCD4Positive_CD25Positive_alphaBetaRegulatoryTCellCount", "label": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count", "logical_definition": null, "original_id": "HP:0030335", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCD4Positive_CD25Positive_alphaBetaRegulatoryTCellMorphology" } ] }
0
{ "document": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalCD4Positive_CD25Positive_alphaBetaRegulatoryTCellMorphology'}]" }
{ "aliases": null, "definition": "A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.", "id": "AbnormalCD4Positive_CD25Positive_alphaBetaRegulatoryTCellMorphology", "label": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology", "logical_definition": null, "original_id": "HP:0030334", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalAlphaBetaTCellMorphology" } ] }
0
{ "document": "Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalAlphaBetaTCellMorphology'}]" }
{ "aliases": null, "definition": "Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.", "id": "AbnormalCD69UpregulationUponTCRActivation", "label": "Abnormal CD69 upregulation upon TCR activation", "logical_definition": null, "original_id": "HP:0031267", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellActivation" } ] }
0
{ "document": "Abnormal CD69 upregulation upon TCR activation Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellActivation'}]" }
{ "aliases": null, "definition": "An abnormality of myelination of nerves in the central nervous system.", "id": "AbnormalCNSMyelination", "label": "Abnormal CNS myelination", "logical_definition": null, "original_id": "HP:0011400", "relationships": [ { "predicate": "subClassOf", "target": "MorphologicalCentralNervousSystemAbnormality" }, { "predicate": "subClassOf", "target": "AbnormalMyelination" } ] }
0
{ "document": "Abnormal CNS myelination An abnormality of myelination of nerves in the central nervous system. [{'predicate': 'subClassOf', 'target': 'MorphologicalCentralNervousSystemAbnormality'}, {'predicate': 'subClassOf', 'target': 'AbnormalMyelination'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of alanine in the cerebrospinal fluid.", "id": "AbnormalCSFAlanineConcentration", "label": "Abnormal CSF alanine concentration", "logical_definition": null, "original_id": "HP:0500232", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFPyruvateFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF alanine concentration Any deviation from the normal concentration of alanine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFPyruvateFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of albumin in the cerebrospinal fluid.", "id": "AbnormalCSFAlbuminConcentration", "label": "Abnormal CSF albumin concentration", "logical_definition": null, "original_id": "HP:0500238", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFProteinConcentration" } ] }
0
{ "document": "Abnormal CSF albumin concentration Any deviation from the normal concentration of albumin in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFProteinConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.", "id": "AbnormalCSFAlphaAminobutyrateConcentration", "label": "Abnormal CSF alpha-aminobutyrate concentration", "logical_definition": null, "original_id": "HP:0500247", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF alpha-aminobutyrate concentration Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFAminoAcidConcentration", "label": "Abnormal CSF amino acid concentration", "logical_definition": null, "original_id": "HP:0500184", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFCarboxylicAcidConcentration" } ] }
0
{ "document": "Abnormal CSF amino acid concentration Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFCarboxylicAcidConcentration'}]" }
{ "aliases": null, "definition": "Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).", "id": "AbnormalCSFAmyloidConcentration", "label": "Abnormal CSF amyloid concentration", "logical_definition": null, "original_id": "HP:0030860", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFProteinConcentration" } ] }
0
{ "document": "Abnormal CSF amyloid concentration Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). [{'predicate': 'subClassOf', 'target': 'AbnormalCSFProteinConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of arginine in the cerebrospinal fluid.", "id": "AbnormalCSFArginineConcentration", "label": "Abnormal CSF arginine concentration", "logical_definition": null, "original_id": "HP:0500202", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFGlutamineFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF arginine concentration Any deviation from the normal concentration of arginine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFGlutamineFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFAromaticAminoAcidConcentration", "label": "Abnormal CSF aromatic amino acid concentration", "logical_definition": null, "original_id": "HP:0500214", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF aromatic amino acid concentration Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.", "id": "AbnormalCSFAspartateConcentration", "label": "Abnormal CSF aspartate concentration", "logical_definition": null, "original_id": "HP:0500216", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAspartateFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF aspartate concentration Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAspartateFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFAspartateFamilyAminoAcidConcentration", "label": "Abnormal CSF aspartate family amino acid concentration", "logical_definition": null, "original_id": "HP:0500205", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF aspartate family amino acid concentration Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).", "id": "AbnormalCSFBiopterinConcentration", "label": "Abnormal CSF biopterin concentration", "logical_definition": null, "original_id": "HP:0040207", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF biopterin concentration Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFBranchedChainAminoAcidConcentration", "label": "Abnormal CSF branched chain amino acid concentration", "logical_definition": null, "original_id": "HP:0500185", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF branched chain amino acid concentration Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.", "id": "AbnormalCSFCarboxylicAcidConcentration", "label": "Abnormal CSF carboxylic acid concentration", "logical_definition": null, "original_id": "HP:0500183", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.", "id": "AbnormalCSFCarnosineConcentration", "label": "Abnormal CSF carnosine concentration", "logical_definition": null, "original_id": "HP:0500240", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF carnosine concentration Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.", "id": "AbnormalCSFCitrullineConcentration", "label": "Abnormal CSF citrulline concentration", "logical_definition": null, "original_id": "HP:0500245", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF citrulline concentration Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).", "id": "AbnormalCSFDopamineConcentration", "label": "Abnormal CSF dopamine concentration", "logical_definition": null, "original_id": "HP:0012654", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF dopamine concentration Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "A deviation from normal concentration of glucose content in the cerebrospinal fluid.", "id": "AbnormalCSFGlucoseConcentration", "label": "Abnormal CSF glucose concentration", "logical_definition": null, "original_id": "HP:0031884", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF glucose concentration A deviation from normal concentration of glucose content in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.", "id": "AbnormalCSFGlutamateConcentration", "label": "Abnormal CSF glutamate concentration", "logical_definition": null, "original_id": "HP:0500199", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFGlutamineFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF glutamate concentration Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFGlutamineFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFGlutamineConcentration", "label": "Abnormal CSF glutamine concentration", "logical_definition": null, "original_id": "HP:0500196", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFGlutamineFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF glutamine concentration Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFGlutamineFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFGlutamineFamilyAminoAcidConcentration", "label": "Abnormal CSF glutamine family amino acid concentration", "logical_definition": null, "original_id": "HP:0500195", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF glutamine family amino acid concentration Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of glycine in the cerebrospinal fluid.", "id": "AbnormalCSFGlycineConcentration", "label": "Abnormal CSF glycine concentration", "logical_definition": null, "original_id": "HP:0500229", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFSerineFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF glycine concentration Any deviation from the normal concentration of glycine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFSerineFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of histidine in the cerebrospinal fluid.", "id": "AbnormalCSFHistidineConcentration", "label": "Abnormal CSF histidine concentration", "logical_definition": null, "original_id": "HP:0500235", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF histidine concentration Any deviation from the normal concentration of histidine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.", "id": "AbnormalCSFHomocarnosineConcentration", "label": "Abnormal CSF homocarnosine concentration", "logical_definition": null, "original_id": "HP:0500241", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF homocarnosine concentration Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.", "id": "AbnormalCSFHomovanillicAcidConcentration", "label": "Abnormal CSF homovanillic acid concentration", "logical_definition": null, "original_id": "HP:0034200", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF homovanillic acid concentration Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.", "id": "AbnormalCSFIsoleucineConcentration", "label": "Abnormal CSF isoleucine concentration", "logical_definition": null, "original_id": "HP:0500192", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFBranchedChainAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF isoleucine concentration Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFBranchedChainAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Abnormal concentration of lactate in the cerebrospinal fluid.", "id": "AbnormalCSFLactateConcentration", "label": "Abnormal CSF lactate concentration", "logical_definition": null, "original_id": "HP:0030085", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF lactate concentration Abnormal concentration of lactate in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of leucine in the cerebrospinal fluid.", "id": "AbnormalCSFLeucineConcentration", "label": "Abnormal CSF leucine concentration", "logical_definition": null, "original_id": "HP:0500189", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFBranchedChainAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF leucine concentration Any deviation from the normal concentration of leucine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFBranchedChainAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of lysine in the cerebrospinal fluid.", "id": "AbnormalCSFLysineConcentration", "label": "Abnormal CSF lysine concentration", "logical_definition": null, "original_id": "HP:0500206", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAspartateFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF lysine concentration Any deviation from the normal concentration of lysine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAspartateFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.", "id": "AbnormalCSFMetaboliteConcentration", "label": "Abnormal CSF metabolite concentration", "logical_definition": null, "original_id": "HP:0025454", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfMetabolismHomeostasis" }, { "predicate": "subClassOf", "target": "AbnormalCerebrospinalFluidMorphology" } ] }
0
{ "document": "Abnormal CSF metabolite concentration Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}, {'predicate': 'subClassOf', 'target': 'AbnormalCerebrospinalFluidMorphology'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of methionine in the cerebrospinal fluid.", "id": "AbnormalCSFMethionineConcentration", "label": "Abnormal CSF methionine concentration", "logical_definition": null, "original_id": "HP:0500209", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAspartateFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF methionine concentration Any deviation from the normal concentration of methionine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAspartateFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).", "id": "AbnormalCSFNeopterinConcentration", "label": "Abnormal CSF neopterin concentration", "logical_definition": null, "original_id": "HP:0040203", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF neopterin concentration Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.", "id": "AbnormalCSFOrnithineConcentration", "label": "Abnormal CSF ornithine concentration", "logical_definition": null, "original_id": "HP:0500243", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF ornithine concentration Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.", "id": "AbnormalCSFPhenylalanineConcentration", "label": "Abnormal CSF phenylalanine concentration", "logical_definition": null, "original_id": "HP:0500215", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAromaticAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF phenylalanine concentration Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAromaticAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.", "id": "AbnormalCSFProteinConcentration", "label": "Abnormal CSF protein concentration", "logical_definition": null, "original_id": "HP:0025456", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfMetabolismHomeostasis" }, { "predicate": "subClassOf", "target": "AbnormalCerebrospinalFluidMorphology" } ] }
0
{ "document": "Abnormal CSF protein concentration Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}, {'predicate': 'subClassOf', 'target': 'AbnormalCerebrospinalFluidMorphology'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFPyruvateFamilyAminoAcidConcentration", "label": "Abnormal CSF pyruvate family amino acid concentration", "logical_definition": null, "original_id": "HP:0500231", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF pyruvate family amino acid concentration Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of serine in the cerebrospinal fluid.", "id": "AbnormalCSFSerineConcentration", "label": "Abnormal CSF serine concentration", "logical_definition": null, "original_id": "HP:0500226", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFSerineFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF serine concentration Any deviation from the normal concentration of serine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFSerineFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.", "id": "AbnormalCSFSerineFamilyAminoAcidConcentration", "label": "Abnormal CSF serine family amino acid concentration", "logical_definition": null, "original_id": "HP:0500225", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF serine family amino acid concentration Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.", "id": "AbnormalCSFSerumAlbuminRatio", "label": "Abnormal CSF/serum albumin ratio", "logical_definition": null, "original_id": "HP:0030981", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCerebrospinalFluidMorphology" } ] }
0
{ "document": "Abnormal CSF/serum albumin ratio A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebrospinalFluidMorphology'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of threonine in the cerebrospinal fluid.", "id": "AbnormalCSFThreonineConcentration", "label": "Abnormal CSF threonine concentration", "logical_definition": null, "original_id": "HP:0500211", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAspartateFamilyAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF threonine concentration Any deviation from the normal concentration of threonine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAspartateFamilyAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.", "id": "AbnormalCSFTryptophanConcentration", "label": "Abnormal CSF tryptophan concentration", "logical_definition": null, "original_id": "HP:0500218", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAromaticAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF tryptophan concentration Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAromaticAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.", "id": "AbnormalCSFTyrosineConcentration", "label": "Abnormal CSF tyrosine concentration", "logical_definition": null, "original_id": "HP:0500219", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFAromaticAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF tyrosine concentration Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFAromaticAminoAcidConcentration'}]" }
{ "aliases": null, "definition": "Abnormal concentration of urate in the cerebrospinal fluid (CSF).", "id": "AbnormalCSFUrateConcentration", "label": "Abnormal CSF urate concentration", "logical_definition": null, "original_id": "HP:0500117", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFMetaboliteConcentration" } ] }
0
{ "document": "Abnormal CSF urate concentration Abnormal concentration of urate in the cerebrospinal fluid (CSF). [{'predicate': 'subClassOf', 'target': 'AbnormalCSFMetaboliteConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of valine in the cerebrospinal fluid.", "id": "AbnormalCSFValineConcentration", "label": "Abnormal CSF valine concentration", "logical_definition": null, "original_id": "HP:0500186", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCSFBranchedChainAminoAcidConcentration" } ] }
0
{ "document": "Abnormal CSF valine concentration Any deviation from the normal concentration of valine in the cerebrospinal fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalCSFBranchedChainAminoAcidConcentration'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalCalcificationOfTheCarpalBones", "label": "Abnormal calcification of the carpal bones", "logical_definition": null, "original_id": "HP:0009164", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfCarpalBoneOssification" }, { "predicate": "subClassOf", "target": "EctopicCalcification" } ] }
0
{ "document": "Abnormal calcification of the carpal bones None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfCarpalBoneOssification'}, {'predicate': 'subClassOf', 'target': 'EctopicCalcification'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.", "id": "AbnormalCalciumPhosphateRegulatingHormoneLevel", "label": "Abnormal calcium-phosphate regulating hormone level", "logical_definition": null, "original_id": "HP:0100530", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingHormoneConcentration" }, { "predicate": "subClassOf", "target": "AcutePhaseResponse" } ] }
0
{ "document": "Abnormal calcium-phosphate regulating hormone level Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingHormoneConcentration'}, {'predicate': 'subClassOf', 'target': 'AcutePhaseResponse'}]" }
{ "aliases": null, "definition": "Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.", "id": "AbnormalCalvariaMorphology", "label": "Abnormal calvaria morphology", "logical_definition": null, "original_id": "HP:0002683", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkullMorphology" } ] }
0
{ "document": "Abnormal calvaria morphology Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [{'predicate': 'subClassOf', 'target': 'AbnormalSkullMorphology'}]" }
{ "aliases": null, "definition": "A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.", "id": "AbnormalCapillaryMorphology", "label": "Abnormal capillary morphology", "logical_definition": null, "original_id": "HP:0025016", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodVesselMorphology" } ] }
0
{ "document": "Abnormal capillary morphology A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodVesselMorphology'}]" }
{ "aliases": null, "definition": "A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.", "id": "AbnormalCapillaryPhysiology", "label": "Abnormal capillary physiology", "logical_definition": null, "original_id": "HP:0025018", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVascularPhysiology" } ] }
0
{ "document": "Abnormal capillary physiology A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. [{'predicate': 'subClassOf', 'target': 'AbnormalVascularPhysiology'}]" }
{ "aliases": null, "definition": "Abnormal amount of carbon dioxide in umbilical cord blood", "id": "AbnormalCarbonDioxideLevelInCordBlood", "label": "Abnormal carbon dioxide level in cord blood", "logical_definition": null, "original_id": "HP:0500258", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodGasLevelInCordBlood" } ] }
0
{ "document": "Abnormal carbon dioxide level in cord blood Abnormal amount of carbon dioxide in umbilical cord blood [{'predicate': 'subClassOf', 'target': 'AbnormalBloodGasLevelInCordBlood'}]" }
{ "aliases": null, "definition": "An abnormality of the function of the cardiac atria.", "id": "AbnormalCardiacAtrialPhysiology", "label": "Abnormal cardiac atrial physiology", "logical_definition": null, "original_id": "HP:0025443", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCardiovascularSystemPhysiology" } ] }
0
{ "document": "Abnormal cardiac atrial physiology An abnormality of the function of the cardiac atria. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiovascularSystemPhysiology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of a cardiac atrium.", "id": "AbnormalCardiacAtriumMorphology", "label": "Abnormal cardiac atrium morphology", "logical_definition": null, "original_id": "HP:0005120", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHeartMorphology" } ] }
0
{ "document": "Abnormal cardiac atrium morphology Any structural abnormality of a cardiac atrium. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]" }