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{ "aliases": null, "definition": "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.", "id": "AbnormalPericardiumMorphology", "label": "Abnormal pericardium morphology", "logical_definition": null, "original_id": "HP:0001697", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHeartMorphology" } ] }
0
{ "document": "Abnormal pericardium morphology An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly in the areas surrounding the hair follicles.", "id": "AbnormalPerifollicularMorphology", "label": "Abnormal perifollicular morphology", "logical_definition": null, "original_id": "HP:0031285", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheSkin" } ] }
0
{ "document": "Abnormal perifollicular morphology Any structural anomaly in the areas surrounding the hair follicles. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheSkin'}]" }
{ "aliases": null, "definition": "Any abnormality of the periodontium.", "id": "AbnormalPeriodontiumMorphology", "label": "Abnormal periodontium morphology", "logical_definition": null, "original_id": "HP:0410026", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheDentition" } ] }
0
{ "document": "Abnormal periodontium morphology Any abnormality of the periodontium. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheDentition'}]" }
{ "aliases": null, "definition": "An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.", "id": "AbnormalPeriosteumMorphology", "label": "Abnormal periosteum morphology", "logical_definition": null, "original_id": "HP:0030313", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBoneStructure" }, { "predicate": "subClassOf", "target": "AbnormalSkeletalMorphology" } ] }
0
{ "document": "Abnormal periosteum morphology An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. [{'predicate': 'subClassOf', 'target': 'AbnormalBoneStructure'}, {'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]" }
{ "aliases": null, "definition": "An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.", "id": "AbnormalPeripheralActionPotentialAmplitude", "label": "Abnormal peripheral action potential amplitude", "logical_definition": null, "original_id": "HP:0030179", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfPeripheralNerveConduction" } ] }
0
{ "document": "Abnormal peripheral action potential amplitude An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfPeripheralNerveConduction'}]" }
{ "aliases": null, "definition": "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.", "id": "AbnormalPeripheralMyelination", "label": "Abnormal peripheral myelination", "logical_definition": null, "original_id": "HP:0003130", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPeripheralNervousSystemMorphology" }, { "predicate": "subClassOf", "target": "AbnormalMyelination" } ] }
0
{ "document": "Abnormal peripheral myelination An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. [{'predicate': 'subClassOf', 'target': 'AbnormalPeripheralNervousSystemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMyelination'}]" }
{ "aliases": null, "definition": "Abnormal morphology of a specific peripheral nerve", "id": "AbnormalPeripheralNerveMorphologyByAnatomicalSite", "label": "Abnormal peripheral nerve morphology by anatomical site", "logical_definition": null, "original_id": "HP:0045010", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPeripheralNervousSystemMorphology" } ] }
0
{ "document": "Abnormal peripheral nerve morphology by anatomical site Abnormal morphology of a specific peripheral nerve [{'predicate': 'subClassOf', 'target': 'AbnormalPeripheralNervousSystemMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.", "id": "AbnormalPeripheralNervousSystemGanglionMorphology", "label": "Abnormal peripheral nervous system ganglion morphology", "logical_definition": null, "original_id": "HP:0410015", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalGanglionMorphology" } ] }
0
{ "document": "Abnormal peripheral nervous system ganglion morphology An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalGanglionMorphology'}]" }
{ "aliases": null, "definition": "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).", "id": "AbnormalPeripheralNervousSystemMorphology", "label": "Abnormal peripheral nervous system morphology", "logical_definition": null, "original_id": "HP:0000759", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalNervousSystemMorphology" } ] }
0
{ "document": "Abnormal peripheral nervous system morphology A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [{'predicate': 'subClassOf', 'target': 'AbnormalNervousSystemMorphology'}]" }
{ "aliases": null, "definition": "Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.", "id": "AbnormalPeripheralNervousSystemPhysiology", "label": "Abnormal peripheral nervous system physiology", "logical_definition": null, "original_id": "HP:0032120", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfThePeripheralNervousSystem" } ] }
0
{ "document": "Abnormal peripheral nervous system physiology Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfThePeripheralNervousSystem'}]" }
{ "aliases": null, "definition": "An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.", "id": "AbnormalPeripheralNervousSystemSynapticTransmission", "label": "Abnormal peripheral nervous system synaptic transmission", "logical_definition": null, "original_id": "HP:0030191", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSynapticTransmission" } ] }
0
{ "document": "Abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalSynapticTransmission'}]" }
{ "aliases": null, "definition": "An anomaly of the wave-like muscle contractions of the digestive tract.", "id": "AbnormalPeristalsis", "label": "Abnormal peristalsis", "logical_definition": null, "original_id": "HP:0030914", "relationships": [ { "predicate": "subClassOf", "target": "GastrointestinalDysmotility" } ] }
0
{ "document": "Abnormal peristalsis An anomaly of the wave-like muscle contractions of the digestive tract. [{'predicate': 'subClassOf', 'target': 'GastrointestinalDysmotility'}]" }
{ "aliases": null, "definition": "Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,", "id": "AbnormalPeritubularCapillaryMorphology", "label": "Abnormal peritubular capillary morphology", "logical_definition": null, "original_id": "HP:0033859", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRenalVascularMorphology" } ] }
0
{ "document": "Abnormal peritubular capillary morphology Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, [{'predicate': 'subClassOf', 'target': 'AbnormalRenalVascularMorphology'}]" }
{ "aliases": null, "definition": "A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.", "id": "AbnormalPeriventricularWhiteMatterMorphology", "label": "Abnormal periventricular white matter morphology", "logical_definition": null, "original_id": "HP:0002518", "relationships": [ { "predicate": "subClassOf", "target": "Leukoencephalopathy" }, { "predicate": "subClassOf", "target": "AbnormalCerebralWhiteMatterMorphology" } ] }
0
{ "document": "Abnormal periventricular white matter morphology A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. [{'predicate': 'subClassOf', 'target': 'Leukoencephalopathy'}, {'predicate': 'subClassOf', 'target': 'AbnormalCerebralWhiteMatterMorphology'}]" }
{ "aliases": null, "definition": "Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species.", "id": "AbnormalPeroxisomalMorphology", "label": "Abnormal peroxisomal morphology", "logical_definition": null, "original_id": "HP:0034552", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCellMorphology" } ] }
0
{ "document": "Abnormal peroxisomal morphology Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species. [{'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]" }
{ "aliases": null, "definition": "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.", "id": "AbnormalPhagocytosis", "label": "Abnormal phagocytosis", "logical_definition": null, "original_id": "HP:0010977", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfImmuneSystemPhysiology" } ] }
0
{ "document": "Abnormal phagocytosis An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfImmuneSystemPhysiology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalPhalangealJointMorphologyOfTheHand", "label": "Abnormal phalangeal joint morphology of the hand", "logical_definition": null, "original_id": "HP:0006261", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalFingerPhalanxMorphology" } ] }
0
{ "document": "Abnormal phalangeal joint morphology of the hand None [{'predicate': 'subClassOf', 'target': 'AbnormalFingerPhalanxMorphology'}]" }
{ "aliases": null, "definition": "A structural anomaly of the pharynx.", "id": "AbnormalPharynxMorphology", "label": "Abnormal pharynx morphology", "logical_definition": null, "original_id": "HP:0033151", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfThePharynx" } ] }
0
{ "document": "Abnormal pharynx morphology A structural anomaly of the pharynx. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfThePharynx'}]" }
{ "aliases": null, "definition": "A functional anomaly of the pharynx.", "id": "AbnormalPharynxPhysiology", "label": "Abnormal pharynx physiology", "logical_definition": null, "original_id": "HP:0033152", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfThePharynx" } ] }
0
{ "document": "Abnormal pharynx physiology A functional anomaly of the pharynx. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfThePharynx'}]" }
{ "aliases": null, "definition": "Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.", "id": "AbnormalPhosphoribosylpyrophosphateSynthetaseLevel", "label": "Abnormal phosphoribosylpyrophosphate synthetase level", "logical_definition": null, "original_id": "HP:0032459", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingEnzymeConcentrationOrActivity" } ] }
0
{ "document": "Abnormal phosphoribosylpyrophosphate synthetase level Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]" }
{ "aliases": null, "definition": "Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.", "id": "AbnormalPhytanicAcidPristanicAcidRatio", "label": "Abnormal phytanic acid:pristanic acid ratio", "logical_definition": null, "original_id": "HP:0034448", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingLongChainFattyAcidConcentration" } ] }
0
{ "document": "Abnormal phytanic acid:pristanic acid ratio Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingLongChainFattyAcidConcentration'}]" }
{ "aliases": null, "definition": "An abnormality of the pia mater.", "id": "AbnormalPiaMater", "label": "Abnormal pia mater", "logical_definition": null, "original_id": "HP:0100701", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMeningealMorphology" } ] }
0
{ "document": "Abnormal pia mater An abnormality of the pia mater. [{'predicate': 'subClassOf', 'target': 'AbnormalMeningealMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the pigmentation of the mucosa of the mouth.", "id": "AbnormalPigmentationOfTheOralMucosa", "label": "Abnormal pigmentation of the oral mucosa", "logical_definition": null, "original_id": "HP:0100669", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalOralMucosaMorphology" } ] }
0
{ "document": "Abnormal pigmentation of the oral mucosa An abnormality of the pigmentation of the mucosa of the mouth. [{'predicate': 'subClassOf', 'target': 'AbnormalOralMucosaMorphology'}]" }
{ "aliases": null, "definition": "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.", "id": "AbnormalPinealMelatoninSecretion", "label": "Abnormal pineal melatonin secretion", "logical_definition": null, "original_id": "HP:0012689", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfPinealPhysiology" } ] }
0
{ "document": "Abnormal pineal melatonin secretion An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfPinealPhysiology'}]" }
{ "aliases": null, "definition": "A structural abnormality of the pineal gland.", "id": "AbnormalPinealMorphology", "label": "Abnormal pineal morphology", "logical_definition": null, "original_id": "HP:0012681", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfBrainMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfThePinealGland" } ] }
0
{ "document": "Abnormal pineal morphology A structural abnormality of the pineal gland. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBrainMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfThePinealGland'}]" }
{ "aliases": null, "definition": "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.", "id": "AbnormalPinealVolume", "label": "Abnormal pineal volume", "logical_definition": null, "original_id": "HP:0012684", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPinealMorphology" } ] }
0
{ "document": "Abnormal pineal volume An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. [{'predicate': 'subClassOf', 'target': 'AbnormalPinealMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalPinholeVisualAcuityTest", "label": "Abnormal pinhole visual acuity test", "logical_definition": null, "original_id": "HP:0030535", "relationships": [ { "predicate": "subClassOf", "target": "VisualAcuityTestAbnormality" } ] }
0
{ "document": "Abnormal pinhole visual acuity test None [{'predicate': 'subClassOf', 'target': 'VisualAcuityTestAbnormality'}]" }
{ "aliases": null, "definition": "An abnormality of the pinna, which is also referred to as the auricle or external ear.", "id": "AbnormalPinnaMorphology", "label": "Abnormal pinna morphology", "logical_definition": null, "original_id": "HP:0000377", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheOuterEar" } ] }
0
{ "document": "Abnormal pinna morphology An abnormality of the pinna, which is also referred to as the auricle or external ear. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheOuterEar'}]" }
{ "aliases": null, "definition": "Abnormally high or low-pitched vocalization or speech.", "id": "AbnormalPitch", "label": "Abnormal pitch", "logical_definition": null, "original_id": "HP:5200005", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalIntonation" } ] }
0
{ "document": "Abnormal pitch Abnormally high or low-pitched vocalization or speech. [{'predicate': 'subClassOf', 'target': 'AbnormalIntonation'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).", "id": "AbnormalPituitaryGlycoproteinHormoneAlphaSubunitLevel", "label": "Abnormal pituitary glycoprotein hormone alpha subunit level", "logical_definition": null, "original_id": "HP:0032481", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingHormoneConcentration" } ] }
0
{ "document": "Abnormal pituitary glycoprotein hormone alpha subunit level Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingHormoneConcentration'}]" }
{ "aliases": null, "definition": "An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.", "id": "AbnormalPlacentaMorphology", "label": "Abnormal placenta morphology", "logical_definition": null, "original_id": "HP:0100767", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalitiesOfPlacentaOrUmbilicalCord" } ] }
0
{ "document": "Abnormal placenta morphology An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. [{'predicate': 'subClassOf', 'target': 'AbnormalitiesOfPlacentaOrUmbilicalCord'}]" }
{ "aliases": null, "definition": "Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.", "id": "AbnormalPlacentalAdhesionIntoTheUterineWall", "label": "Abnormal placental adhesion into the uterine wall", "logical_definition": null, "original_id": "HP:0025652", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlacentaMorphology" } ] }
0
{ "document": "Abnormal placental adhesion into the uterine wall Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. [{'predicate': 'subClassOf', 'target': 'AbnormalPlacentaMorphology'}]" }
{ "aliases": null, "definition": "Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.", "id": "AbnormalPlacentalMembraneMorphology", "label": "Abnormal placental membrane morphology", "logical_definition": null, "original_id": "HP:0011409", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalitiesOfPlacentaOrUmbilicalCord" } ] }
0
{ "document": "Abnormal placental membrane morphology Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. [{'predicate': 'subClassOf', 'target': 'AbnormalitiesOfPlacentaOrUmbilicalCord'}]" }
{ "aliases": null, "definition": "A deviation from normal size of the placenta.", "id": "AbnormalPlacentalSize", "label": "Abnormal placental size", "logical_definition": null, "original_id": "HP:0012767", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlacentaMorphology" } ] }
0
{ "document": "Abnormal placental size A deviation from normal size of the placenta. [{'predicate': 'subClassOf', 'target': 'AbnormalPlacentaMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.", "id": "AbnormalPlantarDermatoglyphics", "label": "Abnormal plantar dermatoglyphics", "logical_definition": null, "original_id": "HP:0010506", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalDermatoglyphics" }, { "predicate": "subClassOf", "target": "AbnormalityOfThePlantarSkinOfFoot" } ] }
0
{ "document": "Abnormal plantar dermatoglyphics An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. [{'predicate': 'subClassOf', 'target': 'AbnormalDermatoglyphics'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfThePlantarSkinOfFoot'}]" }
{ "aliases": null, "definition": "An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.", "id": "AbnormalPlasmaCellCount", "label": "Abnormal plasma cell count", "logical_definition": null, "original_id": "HP:0025617", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBCellMorphology" } ] }
0
{ "document": "Abnormal plasma cell count An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. [{'predicate': 'subClassOf', 'target': 'AbnormalBCellMorphology'}]" }
{ "aliases": null, "definition": "A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.", "id": "AbnormalPlasmablastProportion", "label": "Abnormal plasmablast proportion", "logical_definition": null, "original_id": "HP:0032127", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBCellSubsetDistribution" } ] }
0
{ "document": "Abnormal plasmablast proportion A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination. [{'predicate': 'subClassOf', 'target': 'AbnormalBCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).", "id": "AbnormalPlateletATPDenseGranuleSecretion", "label": "Abnormal platelet ATP dense granule secretion", "logical_definition": null, "original_id": "HP:0030398", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletDenseGranuleSecretion" } ] }
0
{ "document": "Abnormal platelet ATP dense granule secretion Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletDenseGranuleSecretion'}]" }
{ "aliases": null, "definition": "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.", "id": "AbnormalPlateletAggregation", "label": "Abnormal platelet aggregation", "logical_definition": null, "original_id": "HP:0030402", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletFunction" } ] }
0
{ "document": "Abnormal platelet aggregation An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletFunction'}]" }
{ "aliases": null, "definition": "Abnormal release of alpha granule contents from platelets.", "id": "AbnormalPlateletAlphaGranuleSecretion", "label": "Abnormal platelet alpha granule secretion", "logical_definition": null, "original_id": "HP:0030399", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletGranuleSecretion" } ] }
0
{ "document": "Abnormal platelet alpha granule secretion Abnormal release of alpha granule contents from platelets. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletGranuleSecretion'}]" }
{ "aliases": null, "definition": "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.", "id": "AbnormalPlateletCount", "label": "Abnormal platelet count", "logical_definition": null, "original_id": "HP:0011873", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletMorphology" } ] }
0
{ "document": "Abnormal platelet count Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletMorphology'}]" }
{ "aliases": null, "definition": "Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.", "id": "AbnormalPlateletDenseGranuleATPADPRatio", "label": "Abnormal platelet dense granule ATP/ADP ratio", "logical_definition": null, "original_id": "HP:0030401", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalDenseGranules" } ] }
0
{ "document": "Abnormal platelet dense granule ATP/ADP ratio Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. [{'predicate': 'subClassOf', 'target': 'AbnormalDenseGranules'}]" }
{ "aliases": null, "definition": "Abnormal release of dense granules from platelets.", "id": "AbnormalPlateletDenseGranuleSecretion", "label": "Abnormal platelet dense granule secretion", "logical_definition": null, "original_id": "HP:0030397", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletGranuleSecretion" } ] }
0
{ "document": "Abnormal platelet dense granule secretion Abnormal release of dense granules from platelets. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletGranuleSecretion'}]" }
{ "aliases": null, "definition": "Any anomaly in the function of thrombocytes.", "id": "AbnormalPlateletFunction", "label": "Abnormal platelet function", "logical_definition": null, "original_id": "HP:0011869", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfThrombocytes" } ] }
0
{ "document": "Abnormal platelet function Any anomaly in the function of thrombocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfThrombocytes'}]" }
{ "aliases": null, "definition": "Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.", "id": "AbnormalPlateletGranuleSecretion", "label": "Abnormal platelet granule secretion", "logical_definition": null, "original_id": "HP:0030396", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletFunction" } ] }
0
{ "document": "Abnormal platelet granule secretion Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletFunction'}]" }
{ "aliases": null, "definition": "An anomaly of alpha or dense granules or platelet lysosomes.", "id": "AbnormalPlateletGranules", "label": "Abnormal platelet granules", "logical_definition": null, "original_id": "HP:0011883", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletMorphology" } ] }
0
{ "document": "Abnormal platelet granules An anomaly of alpha or dense granules or platelet lysosomes. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletMorphology'}]" }
{ "aliases": null, "definition": "Abnormal release of lysosome contents from platelets.", "id": "AbnormalPlateletLysosomeSecretion", "label": "Abnormal platelet lysosome secretion", "logical_definition": null, "original_id": "HP:0030400", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletGranuleSecretion" } ] }
0
{ "document": "Abnormal platelet lysosome secretion Abnormal release of lysosome contents from platelets. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletGranuleSecretion'}]" }
{ "aliases": null, "definition": "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.", "id": "AbnormalPlateletMembraneProteinExpression", "label": "Abnormal platelet membrane protein expression", "logical_definition": null, "original_id": "HP:0011878", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletFunction" } ] }
0
{ "document": "Abnormal platelet membrane protein expression Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletFunction'}]" }
{ "aliases": null, "definition": "An anomaly in platelet form, ultrastructure, or intracellular organelles.", "id": "AbnormalPlateletMorphology", "label": "Abnormal platelet morphology", "logical_definition": null, "original_id": "HP:0011875", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfThrombocytes" } ] }
0
{ "document": "Abnormal platelet morphology An anomaly in platelet form, ultrastructure, or intracellular organelles. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfThrombocytes'}]" }
{ "aliases": null, "definition": "An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.", "id": "AbnormalPlateletPhosphatidylserineExposure", "label": "Abnormal platelet phosphatidylserine exposure", "logical_definition": null, "original_id": "HP:0031131", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletFunction" } ] }
0
{ "document": "Abnormal platelet phosphatidylserine exposure An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletFunction'}]" }
{ "aliases": null, "definition": "A deviation from the normal discoid platelet shape.", "id": "AbnormalPlateletShape", "label": "Abnormal platelet shape", "logical_definition": null, "original_id": "HP:0012524", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletMorphology" } ] }
0
{ "document": "Abnormal platelet shape A deviation from the normal discoid platelet shape. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletMorphology'}]" }
{ "aliases": null, "definition": "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.", "id": "AbnormalPlateletVolume", "label": "Abnormal platelet volume", "logical_definition": null, "original_id": "HP:0011876", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPlateletMorphology" } ] }
0
{ "document": "Abnormal platelet volume Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. [{'predicate': 'subClassOf', 'target': 'AbnormalPlateletMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the platysma muscle.", "id": "AbnormalPlatysmaMuscleMorphology", "label": "Abnormal platysma muscle morphology", "logical_definition": null, "original_id": "HP:3000013", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfFacialMusculature" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheIntegument" }, { "predicate": "subClassOf", "target": "AbnormalMorphologyOfTheMusculatureOfTheNeck" } ] }
0
{ "document": "Abnormal platysma muscle morphology An abnormality of the platysma muscle. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFacialMusculature'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheIntegument'}, {'predicate': 'subClassOf', 'target': 'AbnormalMorphologyOfTheMusculatureOfTheNeck'}]" }
{ "aliases": null, "definition": "An abnormality in a child's ability play.", "id": "AbnormalPlay", "label": "Abnormal play", "logical_definition": null, "original_id": "HP:5200104", "relationships": [ { "predicate": "subClassOf", "target": "AtypicalBehavior" } ] }
0
{ "document": "Abnormal play An abnormality in a child's ability play. [{'predicate': 'subClassOf', 'target': 'AtypicalBehavior'}]" }
{ "aliases": null, "definition": "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.", "id": "AbnormalPleuraMorphology", "label": "Abnormal pleura morphology", "logical_definition": null, "original_id": "HP:0002103", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLungMorphology" } ] }
0
{ "document": "Abnormal pleura morphology An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. [{'predicate': 'subClassOf', 'target': 'AbnormalLungMorphology'}]" }
{ "aliases": null, "definition": "A structural abnormality of the pons.", "id": "AbnormalPonsMorphology", "label": "Abnormal pons morphology", "logical_definition": null, "original_id": "HP:0007361", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBrainstemMorphology" }, { "predicate": "subClassOf", "target": "AbnormalMetencephalonMorphology" } ] }
0
{ "document": "Abnormal pons morphology A structural abnormality of the pons. [{'predicate': 'subClassOf', 'target': 'AbnormalBrainstemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMetencephalonMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the portal artery.", "id": "AbnormalPortalArteryMorphology", "label": "Abnormal portal artery morphology", "logical_definition": null, "original_id": "HP:4000147", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheHepaticVasculature" } ] }
0
{ "document": "Abnormal portal artery morphology Any structural anomaly of the portal artery. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheHepaticVasculature'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.", "id": "AbnormalPortalVenousSystemMorphology", "label": "Abnormal portal venous system morphology", "logical_definition": null, "original_id": "HP:0031941", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheHepaticVasculature" } ] }
0
{ "document": "Abnormal portal venous system morphology Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheHepaticVasculature'}]" }
{ "aliases": null, "definition": "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.", "id": "AbnormalPositionOfHairWhorl", "label": "Abnormal position of hair whorl", "logical_definition": null, "original_id": "HP:0010814", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHairWhorl" } ] }
0
{ "document": "Abnormal position of hair whorl Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. [{'predicate': 'subClassOf', 'target': 'AbnormalHairWhorl'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the posterior circulating artery (PCOM).", "id": "AbnormalPosteriorCirculatingArteryMorphology", "label": "Abnormal posterior circulating artery morphology", "logical_definition": null, "original_id": "HP:0031772", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCircleOfWillisMorphology" } ] }
0
{ "document": "Abnormal posterior circulating artery morphology Any structural anomaly of the posterior circulating artery (PCOM). [{'predicate': 'subClassOf', 'target': 'AbnormalCircleOfWillisMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.", "id": "AbnormalPosteriorCranialFossaMorphology", "label": "Abnormal posterior cranial fossa morphology", "logical_definition": null, "original_id": "HP:0000932", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkullBaseMorphology" } ] }
0
{ "document": "Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. [{'predicate': 'subClassOf', 'target': 'AbnormalSkullBaseMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalPosteriorEyeSegmentMorphology", "label": "Abnormal posterior eye segment morphology", "logical_definition": null, "original_id": "HP:0004329", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalEyeMorphology" } ] }
0
{ "document": "Abnormal posterior eye segment morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalEyeMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalPosteriorSegmentImaging", "label": "Abnormal posterior segment imaging", "logical_definition": null, "original_id": "HP:0030601", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPosteriorEyeSegmentMorphology" } ] }
0
{ "document": "Abnormal posterior segment imaging None [{'predicate': 'subClassOf', 'target': 'AbnormalPosteriorEyeSegmentMorphology'}]" }
{ "aliases": null, "definition": "Anomaly of the physiological response to maintain the body's posture when movement and position is altered.", "id": "AbnormalPosturalReflex", "label": "Abnormal postural reflex", "logical_definition": null, "original_id": "HP:0033329", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalReflex" } ] }
0
{ "document": "Abnormal postural reflex Anomaly of the physiological response to maintain the body's posture when movement and position is altered. [{'predicate': 'subClassOf', 'target': 'AbnormalReflex'}]" }
{ "aliases": null, "definition": "Involuntary flexion or extension of the arms and legs.", "id": "AbnormalPosturing", "label": "Abnormal posturing", "logical_definition": null, "original_id": "HP:0002533", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfMovement" } ] }
0
{ "document": "Abnormal posturing Involuntary flexion or extension of the arms and legs. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMovement'}]" }
{ "aliases": null, "definition": "An anomaly in the development of the embryo in a stage prior to implantation.", "id": "AbnormalPreimplantationEmbryonicDevelopment", "label": "Abnormal preimplantation embryonic development", "logical_definition": null, "original_id": "HP:0033335", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalEmbryonicDevelopment" } ] }
0
{ "document": "Abnormal preimplantation embryonic development An anomaly in the development of the embryo in a stage prior to implantation. [{'predicate': 'subClassOf', 'target': 'AbnormalEmbryonicDevelopment'}]" }
{ "aliases": null, "definition": "An abnormality of morphology of premolar tooth.", "id": "AbnormalPremolarMorphology", "label": "Abnormal premolar morphology", "logical_definition": null, "original_id": "HP:0011080", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfDentalMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfPremolar" } ] }
0
{ "document": "Abnormal premolar morphology An abnormality of morphology of premolar tooth. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfDentalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfPremolar'}]" }
{ "aliases": null, "definition": "An abnormality of the retractable fold of skin that covers the tip of the penis.", "id": "AbnormalPreputiumMorphology", "label": "Abnormal preputium morphology", "logical_definition": null, "original_id": "HP:0100587", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPenisMorphology" } ] }
0
{ "document": "Abnormal preputium morphology An abnormality of the retractable fold of skin that covers the tip of the penis. [{'predicate': 'subClassOf', 'target': 'AbnormalPenisMorphology'}]" }
{ "aliases": null, "definition": "Detection of abnormal ultra-large von Willebrand factor multimers.", "id": "AbnormalPresenceOfUltraLargeVonWillebrandFactorMultimers", "label": "Abnormal presence of ultra-large von Willebrand factor multimers", "logical_definition": null, "original_id": "HP:0030133", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVonWillebrandFactorMultimerDistribution" } ] }
0
{ "document": "Abnormal presence of ultra-large von Willebrand factor multimers Detection of abnormal ultra-large von Willebrand factor multimers. [{'predicate': 'subClassOf', 'target': 'AbnormalVonWillebrandFactorMultimerDistribution'}]" }
{ "aliases": null, "definition": "Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.", "id": "AbnormalProerythroblastMorphology", "label": "Abnormal proerythroblast morphology", "logical_definition": null, "original_id": "HP:0025035", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalErythroidLineageCellMorphology" } ] }
0
{ "document": "Abnormal proerythroblast morphology Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. [{'predicate': 'subClassOf', 'target': 'AbnormalErythroidLineageCellMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalProlactinLevel", "label": "Abnormal prolactin level", "logical_definition": null, "original_id": "HP:0040086", "relationships": [ { "predicate": "subClassOf", "target": "AnteriorHypopituitarism" } ] }
0
{ "document": "Abnormal prolactin level None [{'predicate': 'subClassOf', 'target': 'AnteriorHypopituitarism'}]" }
{ "aliases": null, "definition": "An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.", "id": "AbnormalProportionOfCD4PositiveHelperTCells", "label": "Abnormal proportion of CD4-positive helper T cells", "logical_definition": null, "original_id": "HP:0500267", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" }, { "predicate": "subClassOf", "target": "AbnormalProportionOfCD4PositiveTCells" } ] }
0
{ "document": "Abnormal proportion of CD4-positive helper T cells An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}, {'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD4PositiveTCells'}]" }
{ "aliases": null, "definition": "Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.", "id": "AbnormalProportionOfCD4PositiveTCells", "label": "Abnormal proportion of CD4-positive T cells", "logical_definition": null, "original_id": "HP:0031392", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of CD4-positive T cells Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "id": "AbnormalProportionOfCD4Positive_alphaBetaMemoryTCells", "label": "Abnormal proportion of CD4-positive, alpha-beta memory T cells", "logical_definition": null, "original_id": "HP:0410379", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfCD4PositiveTCells" }, { "predicate": "subClassOf", "target": "AbnormalProportionOfMemoryTCells" } ] }
0
{ "document": "Abnormal proportion of CD4-positive, alpha-beta memory T cells An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD4PositiveTCells'}, {'predicate': 'subClassOf', 'target': 'AbnormalProportionOfMemoryTCells'}]" }
{ "aliases": null, "definition": "An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.", "id": "AbnormalProportionOfCD4_centralMemoryCells", "label": "Abnormal proportion of CD4+ central memory cells", "logical_definition": null, "original_id": "HP:0025620", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" }, { "predicate": "subClassOf", "target": "AbnormalProportionOfCD4Positive_alphaBetaMemoryTCells" } ] }
0
{ "document": "Abnormal proportion of CD4+ central memory cells An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}, {'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD4Positive_alphaBetaMemoryTCells'}]" }
{ "aliases": null, "definition": "An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "id": "AbnormalProportionOfCD4_effectorMemoryCells", "label": "Abnormal proportion of CD4+ effector memory cells", "logical_definition": null, "original_id": "HP:0025623", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" }, { "predicate": "subClassOf", "target": "AbnormalProportionOfCD4PositiveTCells" } ] }
0
{ "document": "Abnormal proportion of CD4+ effector memory cells An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}, {'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD4PositiveTCells'}]" }
{ "aliases": null, "definition": "Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.", "id": "AbnormalProportionOfCD8PositiveTCells", "label": "Abnormal proportion of CD8-positive T cells", "logical_definition": null, "original_id": "HP:0031393", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of CD8-positive T cells Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.", "id": "AbnormalProportionOfCD8Positive_alphaBetaMemoryTCells", "label": "Abnormal proportion of CD8-positive, alpha-beta memory T cells", "logical_definition": null, "original_id": "HP:0410380", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfCD8PositiveTCells" }, { "predicate": "subClassOf", "target": "AbnormalProportionOfMemoryTCells" } ] }
0
{ "document": "Abnormal proportion of CD8-positive, alpha-beta memory T cells An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD8PositiveTCells'}, {'predicate': 'subClassOf', 'target': 'AbnormalProportionOfMemoryTCells'}]" }
{ "aliases": null, "definition": "An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.", "id": "AbnormalProportionOfCD8Positive_alphaBetaTEMRATCells", "label": "Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells", "logical_definition": null, "original_id": "HP:0020177", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfCD8Positive_alphaBetaMemoryTCells" } ] }
0
{ "document": "Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD8Positive_alphaBetaMemoryTCells'}]" }
{ "aliases": null, "definition": "An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "id": "AbnormalProportionOfCentralMemoryCD4Positive_alphaBetaTCells", "label": "Abnormal proportion of central memory CD4-positive, alpha-beta T cells", "logical_definition": null, "original_id": "HP:0410381", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfCD4Positive_alphaBetaMemoryTCells" } ] }
0
{ "document": "Abnormal proportion of central memory CD4-positive, alpha-beta T cells An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD4Positive_alphaBetaMemoryTCells'}]" }
{ "aliases": null, "definition": "An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "id": "AbnormalProportionOfCentralMemoryCD8Positive_alphaBetaTCells", "label": "Abnormal proportion of central memory CD8-positive, alpha-beta T cells", "logical_definition": null, "original_id": "HP:0410384", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfCD8Positive_alphaBetaMemoryTCells" } ] }
0
{ "document": "Abnormal proportion of central memory CD8-positive, alpha-beta T cells An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD8Positive_alphaBetaMemoryTCells'}]" }
{ "aliases": null, "definition": "A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.", "id": "AbnormalProportionOfClassSwitchedMemoryBCells", "label": "Abnormal proportion of class-switched memory B cells", "logical_definition": null, "original_id": "HP:0030386", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfMemoryBCells" } ] }
0
{ "document": "Abnormal proportion of class-switched memory B cells A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfMemoryBCells'}]" }
{ "aliases": null, "definition": "An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.", "id": "AbnormalProportionOfDoubleNegativeAlphaBetaRegulatoryTCell", "label": "Abnormal proportion of double-negative alpha-beta regulatory T cell", "logical_definition": null, "original_id": "HP:0031399", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of double-negative alpha-beta regulatory T cell An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.", "id": "AbnormalProportionOfEffectorMemoryCD8Positive_alphaBetaTCells", "label": "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells", "logical_definition": null, "original_id": "HP:0410383", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfCD8Positive_alphaBetaMemoryTCells" } ] }
0
{ "document": "Abnormal proportion of effector memory CD8-positive, alpha-beta T cells An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD8Positive_alphaBetaMemoryTCells'}]" }
{ "aliases": null, "definition": "A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.", "id": "AbnormalProportionOfExhaustedTCells", "label": "Abnormal proportion of exhausted T cells", "logical_definition": null, "original_id": "HP:0041080", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of exhausted T cells A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "Abnormal proportion of gamma-delta T cells relative to the total number of T cells.", "id": "AbnormalProportionOfGammaDeltaTCells", "label": "Abnormal proportion of gamma-delta T cells", "logical_definition": null, "original_id": "HP:0500269", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of gamma-delta T cells Abnormal proportion of gamma-delta T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).", "id": "AbnormalProportionOfImmatureBCells", "label": "Abnormal proportion of immature B cells", "logical_definition": null, "original_id": "HP:0030376", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of immature B cells A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). [{'predicate': 'subClassOf', 'target': 'AbnormalBCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.", "id": "AbnormalProportionOfImmatureGammaDeltaTCells", "label": "Abnormal proportion of immature gamma-delta T cells", "logical_definition": null, "original_id": "HP:0500272", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of immature gamma-delta T cells Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.", "id": "AbnormalProportionOfMarginalZoneBCells", "label": "Abnormal proportion of marginal zone B cells", "logical_definition": null, "original_id": "HP:0030383", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfMemoryBCells" } ] }
0
{ "document": "Abnormal proportion of marginal zone B cells A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfMemoryBCells'}]" }
{ "aliases": null, "definition": "A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).", "id": "AbnormalProportionOfMemoryBCells", "label": "Abnormal proportion of memory B cells", "logical_definition": null, "original_id": "HP:0030373", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of memory B cells A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). [{'predicate': 'subClassOf', 'target': 'AbnormalBCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.", "id": "AbnormalProportionOfMemoryTCells", "label": "Abnormal proportion of memory T cells", "logical_definition": null, "original_id": "HP:0032182", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of memory T cells An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.", "id": "AbnormalProportionOfNaiveBCells", "label": "Abnormal proportion of naive B cells", "logical_definition": null, "original_id": "HP:0030370", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of naive B cells A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. [{'predicate': 'subClassOf', 'target': 'AbnormalBCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.", "id": "AbnormalProportionOfNaiveCD4TCells", "label": "Abnormal proportion of naive CD4 T cells", "logical_definition": null, "original_id": "HP:0410373", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfCD4PositiveTCells" }, { "predicate": "subClassOf", "target": "AbnormalProportionOfNaiveTCells" } ] }
0
{ "document": "Abnormal proportion of naive CD4 T cells Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfCD4PositiveTCells'}, {'predicate': 'subClassOf', 'target': 'AbnormalProportionOfNaiveTCells'}]" }
{ "aliases": null, "definition": "Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.", "id": "AbnormalProportionOfNaiveCD8TCells", "label": "Abnormal proportion of naive CD8 T cells", "logical_definition": null, "original_id": "HP:0410374", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfNaiveTCells" } ] }
0
{ "document": "Abnormal proportion of naive CD8 T cells Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfNaiveTCells'}]" }
{ "aliases": null, "definition": "Any abnormality in the proportion of naive T cells relative to the total number of T cells.", "id": "AbnormalProportionOfNaiveTCells", "label": "Abnormal proportion of naive T cells", "logical_definition": null, "original_id": "HP:0031396", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of naive T cells Any abnormality in the proportion of naive T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.", "id": "AbnormalProportionOfTransitionalBCells", "label": "Abnormal proportion of transitional B cells", "logical_definition": null, "original_id": "HP:0030379", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBCellSubsetDistribution" } ] }
0
{ "document": "Abnormal proportion of transitional B cells A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [{'predicate': 'subClassOf', 'target': 'AbnormalBCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.", "id": "AbnormalProportionOfUnswitchedMemoryBCells", "label": "Abnormal proportion of unswitched memory B cells", "logical_definition": null, "original_id": "HP:0032124", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProportionOfMemoryBCells" } ] }
0
{ "document": "Abnormal proportion of unswitched memory B cells A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells. [{'predicate': 'subClassOf', 'target': 'AbnormalProportionOfMemoryBCells'}]" }
{ "aliases": null, "definition": "Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.", "id": "AbnormalProsody", "label": "Abnormal prosody", "logical_definition": null, "original_id": "HP:0031434", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfSpeechOrVocalization" } ] }
0
{ "document": "Abnormal prosody Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfSpeechOrVocalization'}]" }
{ "aliases": null, "definition": "An abnormality of the prostate.", "id": "AbnormalProstateMorphology", "label": "Abnormal prostate morphology", "logical_definition": null, "original_id": "HP:0008775", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMaleInternalGenitaliaMorphology" } ] }
0
{ "document": "Abnormal prostate morphology An abnormality of the prostate. [{'predicate': 'subClassOf', 'target': 'AbnormalMaleInternalGenitaliaMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.", "id": "AbnormalProteinGlycosylation", "label": "Abnormal protein glycosylation", "logical_definition": null, "original_id": "HP:0012346", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalGlycosylation" } ] }
0
{ "document": "Abnormal protein glycosylation An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. [{'predicate': 'subClassOf', 'target': 'AbnormalGlycosylation'}]" }