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{ "aliases": null, "definition": "A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.", "id": "AbnormalLactateDehydrogenaseLevel", "label": "Abnormal lactate dehydrogenase level", "logical_definition": null, "original_id": "HP:0045040", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingEnzymeConcentrationOrActivity" } ] }
0
{ "document": "Abnormal lactate dehydrogenase level A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]" }
{ "aliases": null, "definition": "Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.", "id": "AbnormalLangerhansCellMorphology", "label": "Abnormal Langerhans cell morphology", "logical_definition": null, "original_id": "HP:0031871", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCellMorphology" } ] }
0
{ "document": "Abnormal Langerhans cell morphology Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. [{'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]" }
{ "aliases": null, "definition": "The presence of any atypical form of expressive language.", "id": "AbnormalLanguageFeature", "label": "Abnormal language feature", "logical_definition": null, "original_id": "HP:4000072", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCommunication" } ] }
0
{ "document": "Abnormal language feature The presence of any atypical form of expressive language. [{'predicate': 'subClassOf', 'target': 'AbnormalCommunication'}]" }
{ "aliases": null, "definition": "A structural anomaly of the mucous lining of the large intestine.", "id": "AbnormalLargeIntestinalMucosaMorphology", "label": "Abnormal large intestinal mucosa morphology", "logical_definition": null, "original_id": "HP:0025090", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLargeIntestineMorphology" } ] }
0
{ "document": "Abnormal large intestinal mucosa morphology A structural anomaly of the mucous lining of the large intestine. [{'predicate': 'subClassOf', 'target': 'AbnormalLargeIntestineMorphology'}]" }
{ "aliases": null, "definition": "Any abnormality of the large intestine.", "id": "AbnormalLargeIntestineMorphology", "label": "Abnormal large intestine morphology", "logical_definition": null, "original_id": "HP:0002250", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalIntestineMorphology" } ] }
0
{ "document": "Abnormal large intestine morphology Any abnormality of the large intestine. [{'predicate': 'subClassOf', 'target': 'AbnormalIntestineMorphology'}]" }
{ "aliases": null, "definition": "A functional anomaly of the large intestine.", "id": "AbnormalLargeIntestinePhysiology", "label": "Abnormal large intestine physiology", "logical_definition": null, "original_id": "HP:0012700", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfDigestiveSystemPhysiology" } ] }
0
{ "document": "Abnormal large intestine physiology A functional anomaly of the large intestine. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfDigestiveSystemPhysiology'}]" }
{ "aliases": null, "definition": "Any anomaly of the structure of the larynx.", "id": "AbnormalLarynxMorphology", "label": "Abnormal larynx morphology", "logical_definition": null, "original_id": "HP:0025423", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheLarynx" } ] }
0
{ "document": "Abnormal larynx morphology Any anomaly of the structure of the larynx. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLarynx'}]" }
{ "aliases": null, "definition": "Any anomaly of the function of the larynx.", "id": "AbnormalLarynxPhysiology", "label": "Abnormal larynx physiology", "logical_definition": null, "original_id": "HP:0025424", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheLarynx" } ] }
0
{ "document": "Abnormal larynx physiology Any anomaly of the function of the larynx. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLarynx'}]" }
{ "aliases": null, "definition": "Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.", "id": "AbnormalLateralCricoarytenoidMuscleMorphology", "label": "Abnormal lateral cricoarytenoid muscle morphology", "logical_definition": null, "original_id": "HP:3000067", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkeletalMuscleMorphology" }, { "predicate": "subClassOf", "target": "AbnormalLarynxMorphology" }, { "predicate": "subClassOf", "target": "AbnormalNeckMorphology" } ] }
0
{ "document": "Abnormal lateral cricoarytenoid muscle morphology Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLarynxMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalNeckMorphology'}]" }
{ "aliases": null, "definition": "A functional anomaly of the lateral rectus muscle.", "id": "AbnormalLateralRectusMusclePhysiology", "label": "Abnormal lateral rectus muscle physiology", "logical_definition": null, "original_id": "HP:0031749", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHorizontalRectusMusclePhysiology" } ] }
0
{ "document": "Abnormal lateral rectus muscle physiology A functional anomaly of the lateral rectus muscle. [{'predicate': 'subClassOf', 'target': 'AbnormalHorizontalRectusMusclePhysiology'}]" }
{ "aliases": null, "definition": "A morphological anomaly of the lateral ventricle.", "id": "AbnormalLateralVentricleMorphology", "label": "Abnormal lateral ventricle morphology", "logical_definition": null, "original_id": "HP:0030047", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCerebralVentricleMorphology" } ] }
0
{ "document": "Abnormal lateral ventricle morphology A morphological anomaly of the lateral ventricle. [{'predicate': 'subClassOf', 'target': 'AbnormalCerebralVentricleMorphology'}]" }
{ "aliases": null, "definition": "Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.", "id": "AbnormalLayeringOfMuscularisPropria", "label": "Abnormal layering of muscularis propria", "logical_definition": null, "original_id": "HP:0030936", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfIntestinalSmoothMuscleMorphology" } ] }
0
{ "document": "Abnormal layering of muscularis propria Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfIntestinalSmoothMuscleMorphology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of the left atrium.", "id": "AbnormalLeftAtriumMorphology", "label": "Abnormal left atrium morphology", "logical_definition": null, "original_id": "HP:0025579", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCardiacAtriumMorphology" } ] }
0
{ "document": "Abnormal left atrium morphology Any structural abnormality of the left atrium. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacAtriumMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLeftHemidiaphragmMorphology", "label": "Abnormal left hemidiaphragm morphology", "logical_definition": null, "original_id": "HP:0040046", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHemidiaphragmMorphology" } ] }
0
{ "document": "Abnormal left hemidiaphragm morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalHemidiaphragmMorphology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of the left ventricle of the heart.", "id": "AbnormalLeftVentricleMorphology", "label": "Abnormal left ventricle morphology", "logical_definition": null, "original_id": "HP:0001711", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCardiacVentricleMorphology" } ] }
0
{ "document": "Abnormal left ventricle morphology Any structural abnormality of the left ventricle of the heart. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacVentricleMorphology'}]" }
{ "aliases": null, "definition": "Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.", "id": "AbnormalLeftVentricularEjectionFraction", "label": "Abnormal left ventricular ejection fraction", "logical_definition": null, "original_id": "HP:0034314", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLeftVentricularFunction" } ] }
0
{ "document": "Abnormal left ventricular ejection fraction Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent. [{'predicate': 'subClassOf', 'target': 'AbnormalLeftVentricularFunction'}]" }
{ "aliases": null, "definition": "Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).", "id": "AbnormalLeftVentricularEndDiastolicVolume", "label": "Abnormal left ventricular end-diastolic volume", "logical_definition": null, "original_id": "HP:0033754", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLeftVentricularFunction" } ] }
0
{ "document": "Abnormal left ventricular end-diastolic volume Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). [{'predicate': 'subClassOf', 'target': 'AbnormalLeftVentricularFunction'}]" }
{ "aliases": null, "definition": "A deviation from the normal range of the left ventricular endsystolic diameter.", "id": "AbnormalLeftVentricularEndsystolicDiameter", "label": "Abnormal left ventricular endsystolic diameter", "logical_definition": null, "original_id": "HP:0034385", "relationships": [ { "predicate": "subClassOf", "target": "LeftVentricularSystolicDysfunction" } ] }
0
{ "document": "Abnormal left ventricular endsystolic diameter A deviation from the normal range of the left ventricular endsystolic diameter. [{'predicate': 'subClassOf', 'target': 'LeftVentricularSystolicDysfunction'}]" }
{ "aliases": null, "definition": "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.", "id": "AbnormalLeftVentricularFunction", "label": "Abnormal left ventricular function", "logical_definition": null, "original_id": "HP:0005162", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCardiacVentricularFunction" } ] }
0
{ "document": "Abnormal left ventricular function Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiacVentricularFunction'}]" }
{ "aliases": null, "definition": "An abnormality of the outflow tract of the left ventricle.", "id": "AbnormalLeftVentricularOutflowTractMorphology", "label": "Abnormal left ventricular outflow tract morphology", "logical_definition": null, "original_id": "HP:0011103", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLeftVentricleMorphology" } ] }
0
{ "document": "Abnormal left ventricular outflow tract morphology An abnormality of the outflow tract of the left ventricle. [{'predicate': 'subClassOf', 'target': 'AbnormalLeftVentricleMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLengthOfCorpusCallosum", "label": "Abnormal length of corpus callosum", "logical_definition": null, "original_id": "HP:0200011", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCorpusCallosumMorphology" } ] }
0
{ "document": "Abnormal length of corpus callosum None [{'predicate': 'subClassOf', 'target': 'AbnormalCorpusCallosumMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the lens.", "id": "AbnormalLensMorphology", "label": "Abnormal lens morphology", "logical_definition": null, "original_id": "HP:0000517", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalAnteriorEyeSegmentMorphology" } ] }
0
{ "document": "Abnormal lens morphology An abnormality of the lens. [{'predicate': 'subClassOf', 'target': 'AbnormalAnteriorEyeSegmentMorphology'}]" }
{ "aliases": null, "definition": "Number of leukocytes per volume of blood beyond normal limits.", "id": "AbnormalLeukocyteCount", "label": "Abnormal leukocyte count", "logical_definition": null, "original_id": "HP:0011893", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLeukocyteMorphology" } ] }
0
{ "document": "Abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits. [{'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of leukocytes.", "id": "AbnormalLeukocyteMorphology", "label": "Abnormal leukocyte morphology", "logical_definition": null, "original_id": "HP:0001881", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfBloodAndBloodFormingTissues" }, { "predicate": "subClassOf", "target": "AbnormalCellularImmuneSystemMorphology" } ] }
0
{ "document": "Abnormal leukocyte morphology An abnormality of leukocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodAndBloodFormingTissues'}, {'predicate': 'subClassOf', 'target': 'AbnormalCellularImmuneSystemMorphology'}]" }
{ "aliases": null, "definition": "A functional abnormality of a white blood cell.", "id": "AbnormalLeukocytePhysiology", "label": "Abnormal leukocyte physiology", "logical_definition": null, "original_id": "HP:0033796", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfBloodAndBloodFormingTissues" }, { "predicate": "subClassOf", "target": "AbnormalityOfImmuneSystemPhysiology" } ] }
0
{ "document": "Abnormal leukocyte physiology A functional abnormality of a white blood cell. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodAndBloodFormingTissues'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfImmuneSystemPhysiology'}]" }
{ "aliases": null, "definition": "An abnormality of a levator palpebrae superioris.", "id": "AbnormalLevatorPalpebraeSuperiorisMorphology", "label": "Abnormal levator palpebrae superioris morphology", "logical_definition": null, "original_id": "HP:3000072", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalEyelidMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheExtraocularMuscles" } ] }
0
{ "document": "Abnormal levator palpebrae superioris morphology An abnormality of a levator palpebrae superioris. [{'predicate': 'subClassOf', 'target': 'AbnormalEyelidMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheExtraocularMuscles'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLevelOfPlateletActivatingFactor", "label": "Abnormal level of platelet-activating factor", "logical_definition": null, "original_id": "HP:0040177", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingPhospholipidConcentration" } ] }
0
{ "document": "Abnormal level of platelet-activating factor None [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingPhospholipidConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from the normal sexual drive or desire for sexual activity.", "id": "AbnormalLibido", "label": "Abnormal libido", "logical_definition": null, "original_id": "HP:0031845", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfReproductiveSystemPhysiology" } ] }
0
{ "document": "Abnormal libido Any deviation from the normal sexual drive or desire for sexual activity. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfReproductiveSystemPhysiology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLightAdaptedElectroretinogram", "label": "Abnormal light-adapted electroretinogram", "logical_definition": null, "original_id": "HP:0008275", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalFullFieldElectroretinogram" } ] }
0
{ "document": "Abnormal light-adapted electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalFullFieldElectroretinogram'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLightAdaptedFlickerElectroretinogram", "label": "Abnormal light-adapted flicker electroretinogram", "logical_definition": null, "original_id": "HP:0030473", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLightAdaptedElectroretinogram" } ] }
0
{ "document": "Abnormal light-adapted flicker electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalLightAdaptedElectroretinogram'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLightAdaptedSingleFlashElectroretinogram", "label": "Abnormal light-adapted single flash electroretinogram", "logical_definition": null, "original_id": "HP:0030472", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLightAdaptedElectroretinogram" } ] }
0
{ "document": "Abnormal light-adapted single flash electroretinogram None [{'predicate': 'subClassOf', 'target': 'AbnormalLightAdaptedElectroretinogram'}]" }
{ "aliases": null, "definition": "An abnormality of the combined rod-and-cone response on electroretinogram.", "id": "AbnormalLight_andDarkAdaptedElectroretinogram", "label": "Abnormal light- and dark-adapted electroretinogram", "logical_definition": null, "original_id": "HP:0008323", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalFullFieldElectroretinogram" } ] }
0
{ "document": "Abnormal light- and dark-adapted electroretinogram An abnormality of the combined rod-and-cone response on electroretinogram. [{'predicate': 'subClassOf', 'target': 'AbnormalFullFieldElectroretinogram'}]" }
{ "aliases": null, "definition": "An anomaly of one or more epiphyses of a limb.", "id": "AbnormalLimbEpiphysisMorphology", "label": "Abnormal limb epiphysis morphology", "logical_definition": null, "original_id": "HP:0006505", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfLimbBoneMorphology" }, { "predicate": "subClassOf", "target": "AbnormalEpiphysisMorphology" } ] }
0
{ "document": "Abnormal limb epiphysis morphology An anomaly of one or more epiphyses of a limb. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLimbBoneMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalEpiphysisMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the line of Schwalbe.", "id": "AbnormalLineOfSchwalbeMorphology", "label": "Abnormal line of Schwalbe morphology", "logical_definition": null, "original_id": "HP:0008048", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCorneaMorphology" } ] }
0
{ "document": "Abnormal line of Schwalbe morphology An abnormality of the line of Schwalbe. [{'predicate': 'subClassOf', 'target': 'AbnormalCorneaMorphology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of a lingual artery.", "id": "AbnormalLingualArteryMorphology", "label": "Abnormal lingual artery morphology", "logical_definition": null, "original_id": "HP:3000074", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSystemicArterialMorphology" }, { "predicate": "subClassOf", "target": "AbnormalTongueMorphology" }, { "predicate": "subClassOf", "target": "AbnormalHeadBloodVesselMorphology" } ] }
0
{ "document": "Abnormal lingual artery morphology Any structural abnormality of a lingual artery. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalTongueMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHeadBloodVesselMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of a lingual nerve.", "id": "AbnormalLingualNerveMorphology", "label": "Abnormal lingual nerve morphology", "logical_definition": null, "original_id": "HP:3000075", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPeripheralNerveMorphologyByAnatomicalSite" } ] }
0
{ "document": "Abnormal lingual nerve morphology Any structural anomaly of a lingual nerve. [{'predicate': 'subClassOf', 'target': 'AbnormalPeripheralNerveMorphologyByAnatomicalSite'}]" }
{ "aliases": null, "definition": "An abnormality of the lip.", "id": "AbnormalLipMorphology", "label": "Abnormal lip morphology", "logical_definition": null, "original_id": "HP:0000159", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalOralCavityMorphology" } ] }
0
{ "document": "Abnormal lip morphology An abnormality of the lip. [{'predicate': 'subClassOf', 'target': 'AbnormalOralCavityMorphology'}]" }
{ "aliases": null, "definition": "Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.", "id": "AbnormalLipPigmentation", "label": "Abnormal lip pigmentation", "logical_definition": null, "original_id": "HP:0032453", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLipMorphology" } ] }
0
{ "document": "Abnormal lip pigmentation Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. [{'predicate': 'subClassOf', 'target': 'AbnormalLipMorphology'}]" }
{ "aliases": null, "definition": "Concentration or activity of an enzyme is above or below the limits of normal in liver tissue.", "id": "AbnormalLiverEnzymeActivityOrConcentration", "label": "Abnormal liver enzyme activity or concentration", "logical_definition": null, "original_id": "HP:0034685", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalEnzymeConcentrationOrActivity" } ] }
0
{ "document": "Abnormal liver enzyme activity or concentration Concentration or activity of an enzyme is above or below the limits of normal in liver tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalEnzymeConcentrationOrActivity'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLiverFunctionTestsDuringPregnancy", "label": "Abnormal liver function tests during pregnancy", "logical_definition": null, "original_id": "HP:0200148", "relationships": [ { "predicate": "subClassOf", "target": "ElevatedHepaticTransaminase" } ] }
0
{ "document": "Abnormal liver function tests during pregnancy None [{'predicate': 'subClassOf', 'target': 'ElevatedHepaticTransaminase'}]" }
{ "aliases": null, "definition": "Formation of abnormal lobules (small masses of tissue) in the liver.", "id": "AbnormalLiverLobulation", "label": "Abnormal liver lobulation", "logical_definition": null, "original_id": "HP:0100752", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLiverParenchymaMorphology" } ] }
0
{ "document": "Abnormal liver lobulation Formation of abnormal lobules (small masses of tissue) in the liver. [{'predicate': 'subClassOf', 'target': 'AbnormalLiverParenchymaMorphology'}]" }
{ "aliases": null, "definition": "The concentration of a metabolite in the liver is above or below the limits of normal.", "id": "AbnormalLiverMetaboliteConcentration", "label": "Abnormal liver metabolite concentration", "logical_definition": null, "original_id": "HP:0034644", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTissueMetaboliteConcentration" }, { "predicate": "subClassOf", "target": "AbnormalLiverMorphology" } ] }
0
{ "document": "Abnormal liver metabolite concentration The concentration of a metabolite in the liver is above or below the limits of normal. [{'predicate': 'subClassOf', 'target': 'AbnormalTissueMetaboliteConcentration'}, {'predicate': 'subClassOf', 'target': 'AbnormalLiverMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.", "id": "AbnormalLiverMorphology", "label": "Abnormal liver morphology", "logical_definition": null, "original_id": "HP:0410042", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheLiver" } ] }
0
{ "document": "Abnormal liver morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLiver'}]" }
{ "aliases": null, "definition": "A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.", "id": "AbnormalLiverParenchymaMorphology", "label": "Abnormal liver parenchyma morphology", "logical_definition": null, "original_id": "HP:0030146", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLiverMorphology" } ] }
0
{ "document": "Abnormal liver parenchyma morphology A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. [{'predicate': 'subClassOf', 'target': 'AbnormalLiverMorphology'}]" }
{ "aliases": null, "definition": "Any functional anomaly of the liver.", "id": "AbnormalLiverPhysiology", "label": "Abnormal liver physiology", "logical_definition": null, "original_id": "HP:0031865", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheLiver" } ] }
0
{ "document": "Abnormal liver physiology Any functional anomaly of the liver. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLiver'}]" }
{ "aliases": null, "definition": "An abnormal appearance of the liver or any of its components on sonography (ultrasound).", "id": "AbnormalLiverSonography", "label": "Abnormal liver sonography", "logical_definition": null, "original_id": "HP:0031140", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLiverMorphology" } ] }
0
{ "document": "Abnormal liver sonography An abnormal appearance of the liver or any of its components on sonography (ultrasound). [{'predicate': 'subClassOf', 'target': 'AbnormalLiverMorphology'}]" }
{ "aliases": null, "definition": "An abnormal site of the kidney.", "id": "AbnormalLocalizationOfKidney", "label": "Abnormal localization of kidney", "logical_definition": null, "original_id": "HP:0100542", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRenalMorphology" } ] }
0
{ "document": "Abnormal localization of kidney An abnormal site of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalRenalMorphology'}]" }
{ "aliases": null, "definition": "Abnormal location of the ear.", "id": "AbnormalLocationOfEars", "label": "Abnormal location of ears", "logical_definition": null, "original_id": "HP:0000357", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPinnaMorphology" } ] }
0
{ "document": "Abnormal location of ears Abnormal location of the ear. [{'predicate': 'subClassOf', 'target': 'AbnormalPinnaMorphology'}]" }
{ "aliases": null, "definition": "Anomalous anatomical placement of the eyebrow.", "id": "AbnormalLocationOfTheEyebrow", "label": "Abnormal location of the eyebrow", "logical_definition": null, "original_id": "HP:0040296", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalEyebrowMorphology" } ] }
0
{ "document": "Abnormal location of the eyebrow Anomalous anatomical placement of the eyebrow. [{'predicate': 'subClassOf', 'target': 'AbnormalEyebrowMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of size or shape of the long bones.", "id": "AbnormalLongBoneMorphology", "label": "Abnormal long bone morphology", "logical_definition": null, "original_id": "HP:0011314", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalAppendicularSkeletonMorphology" } ] }
0
{ "document": "Abnormal long bone morphology An abnormality of size or shape of the long bones. [{'predicate': 'subClassOf', 'target': 'AbnormalAppendicularSkeletonMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLowerLimbBoneMorphology", "label": "Abnormal lower limb bone morphology", "logical_definition": null, "original_id": "HP:0040069", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfLimbBoneMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheLowerLimb" } ] }
0
{ "document": "Abnormal lower limb bone morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLimbBoneMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLowerLimb'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalLowerLimbMetaphysisMorphology", "label": "Abnormal lower-limb metaphysis morphology", "logical_definition": null, "original_id": "HP:0006490", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMetaphysisMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheLowerLimb" } ] }
0
{ "document": "Abnormal lower-limb metaphysis morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalMetaphysisMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLowerLimb'}]" }
{ "aliases": null, "definition": "An anomaly identified by motor evoked potentials (MEPs) in the leg.", "id": "AbnormalLowerLimbMotorEvokedPotentials", "label": "Abnormal lower-limb motor evoked potentials", "logical_definition": null, "original_id": "HP:0012898", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMotorEvokedPotentials" } ] }
0
{ "document": "Abnormal lower-limb motor evoked potentials An anomaly identified by motor evoked potentials (MEPs) in the leg. [{'predicate': 'subClassOf', 'target': 'AbnormalMotorEvokedPotentials'}]" }
{ "aliases": null, "definition": "An abnormality of the lower lip.", "id": "AbnormalLowerLipMorphology", "label": "Abnormal lower lip morphology", "logical_definition": null, "original_id": "HP:0000178", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLipMorphology" } ] }
0
{ "document": "Abnormal lower lip morphology An abnormality of the lower lip. [{'predicate': 'subClassOf', 'target': 'AbnormalLipMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the lower motor neuron.", "id": "AbnormalLowerMotorNeuronMorphology", "label": "Abnormal lower motor neuron morphology", "logical_definition": null, "original_id": "HP:0002366", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPeripheralNervousSystemMorphology" }, { "predicate": "subClassOf", "target": "AbnormalMotorNeuronMorphology" } ] }
0
{ "document": "Abnormal lower motor neuron morphology Any structural anomaly of the lower motor neuron. [{'predicate': 'subClassOf', 'target': 'AbnormalPeripheralNervousSystemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMotorNeuronMorphology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of the lumbar vertebral column.", "id": "AbnormalLumbarSpineMorphology", "label": "Abnormal lumbar spine morphology", "logical_definition": null, "original_id": "HP:0100712", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheVertebralColumn" } ] }
0
{ "document": "Abnormal lumbar spine morphology Any structural abnormality of the lumbar vertebral column. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheVertebralColumn'}]" }
{ "aliases": null, "definition": "A structural defect associated with abnormal development of the lung.", "id": "AbnormalLungDevelopment", "label": "Abnormal lung development", "logical_definition": null, "original_id": "HP:4000059", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLungMorphology" } ] }
0
{ "document": "Abnormal lung development A structural defect associated with abnormal development of the lung. [{'predicate': 'subClassOf', 'target': 'AbnormalLungMorphology'}]" }
{ "aliases": null, "definition": "A developmental defect in the formation of pulmonary lobes.", "id": "AbnormalLungLobation", "label": "Abnormal lung lobation", "logical_definition": null, "original_id": "HP:0002101", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLungDevelopment" } ] }
0
{ "document": "Abnormal lung lobation A developmental defect in the formation of pulmonary lobes. [{'predicate': 'subClassOf', 'target': 'AbnormalLungDevelopment'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the lung.", "id": "AbnormalLungMorphology", "label": "Abnormal lung morphology", "logical_definition": null, "original_id": "HP:0002088", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRespiratorySystemMorphology" } ] }
0
{ "document": "Abnormal lung morphology Any structural anomaly of the lung. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratorySystemMorphology'}]" }
{ "aliases": null, "definition": "A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.", "id": "AbnormalLymphNodeCellComposition", "label": "Abnormal lymph node cell composition", "logical_definition": null, "original_id": "HP:0034582", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLymphNodeMorphology" } ] }
0
{ "document": "Abnormal lymph node cell composition A deviation from the normal distribution of cell types or their relative proprotions in a lymph node. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphNodeMorphology'}]" }
{ "aliases": null, "definition": "A structural lymph node abnormality.", "id": "AbnormalLymphNodeMorphology", "label": "Abnormal lymph node morphology", "logical_definition": null, "original_id": "HP:0002733", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheLymphaticSystem" } ] }
0
{ "document": "Abnormal lymph node morphology A structural lymph node abnormality. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLymphaticSystem'}]" }
{ "aliases": null, "definition": "A structural anomaly of the vessel that contains or conveys lymph fluid.", "id": "AbnormalLymphaticVesselMorphology", "label": "Abnormal lymphatic vessel morphology", "logical_definition": null, "original_id": "HP:0100766", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVascularMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheLymphaticSystem" } ] }
0
{ "document": "Abnormal lymphatic vessel morphology A structural anomaly of the vessel that contains or conveys lymph fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalVascularMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLymphaticSystem'}]" }
{ "aliases": null, "definition": "A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.", "id": "AbnormalLymphocyteApoptosis", "label": "Abnormal lymphocyte apoptosis", "logical_definition": null, "original_id": "HP:0030886", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLymphocytePhysiology" } ] }
0
{ "document": "Abnormal lymphocyte apoptosis A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocytePhysiology'}]" }
{ "aliases": null, "definition": "Any abnormality in the total number of lymphocytes in the blood.", "id": "AbnormalLymphocyteCount", "label": "Abnormal lymphocyte count", "logical_definition": null, "original_id": "HP:0040088", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLymphocyteMorphology" }, { "predicate": "subClassOf", "target": "AbnormalLeukocyteCount" } ] }
0
{ "document": "Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteCount'}]" }
{ "aliases": null, "definition": "An abnormality of lymphocytes.", "id": "AbnormalLymphocyteMorphology", "label": "Abnormal lymphocyte morphology", "logical_definition": null, "original_id": "HP:0004332", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLeukocyteMorphology" } ] }
0
{ "document": "Abnormal lymphocyte morphology An abnormality of lymphocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteMorphology'}]" }
{ "aliases": null, "definition": "Any anomaly of lymphocyte function.", "id": "AbnormalLymphocytePhysiology", "label": "Abnormal lymphocyte physiology", "logical_definition": null, "original_id": "HP:0031409", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCellularPhysiology" }, { "predicate": "subClassOf", "target": "AbnormalLeukocytePhysiology" } ] }
0
{ "document": "Abnormal lymphocyte physiology Any anomaly of lymphocyte function. [{'predicate': 'subClassOf', 'target': 'AbnormalCellularPhysiology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLeukocytePhysiology'}]" }
{ "aliases": null, "definition": "Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.", "id": "AbnormalLymphocyteProliferation", "label": "Abnormal lymphocyte proliferation", "logical_definition": null, "original_id": "HP:0031378", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCellProliferation" }, { "predicate": "subClassOf", "target": "AbnormalLymphocytePhysiology" } ] }
0
{ "document": "Abnormal lymphocyte proliferation Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. [{'predicate': 'subClassOf', 'target': 'AbnormalCellProliferation'}, {'predicate': 'subClassOf', 'target': 'AbnormalLymphocytePhysiology'}]" }
{ "aliases": null, "definition": "Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.", "id": "AbnormalLymphocyteSurfaceMarkerExpression", "label": "Abnormal lymphocyte surface marker expression", "logical_definition": null, "original_id": "HP:0031383", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfImmuneSystemPhysiology" } ] }
0
{ "document": "Abnormal lymphocyte surface marker expression Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfImmuneSystemPhysiology'}]" }
{ "aliases": null, "definition": "A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.", "id": "AbnormalLysosomalMorphology", "label": "Abnormal lysosomal morphology", "logical_definition": null, "original_id": "HP:0031340", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCellMorphology" } ] }
0
{ "document": "Abnormal lysosomal morphology A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. [{'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]" }
{ "aliases": null, "definition": "A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.", "id": "AbnormalMHCIISurfaceExpression", "label": "Abnormal MHC II surface expression", "logical_definition": null, "original_id": "HP:0031389", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfImmuneSystemPhysiology" } ] }
0
{ "document": "Abnormal MHC II surface expression A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfImmuneSystemPhysiology'}]" }
{ "aliases": null, "definition": "An anomaly in the number of macrophages.", "id": "AbnormalMacrophageCount", "label": "Abnormal macrophage count", "logical_definition": null, "original_id": "HP:0030326", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMacrophageMorphology" } ] }
0
{ "document": "Abnormal macrophage count An anomaly in the number of macrophages. [{'predicate': 'subClassOf', 'target': 'AbnormalMacrophageMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of macrophages.", "id": "AbnormalMacrophageMorphology", "label": "Abnormal macrophage morphology", "logical_definition": null, "original_id": "HP:0004311", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMyeloidLeukocyteMorphology" } ] }
0
{ "document": "Abnormal macrophage morphology An abnormality of macrophages. [{'predicate': 'subClassOf', 'target': 'AbnormalMyeloidLeukocyteMorphology'}]" }
{ "aliases": null, "definition": "Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.", "id": "AbnormalMacroscopicUrineAppearance", "label": "Abnormal macroscopic urine appearance", "logical_definition": null, "original_id": "HP:0033072", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfUrineHomeostasis" } ] }
0
{ "document": "Abnormal macroscopic urine appearance Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfUrineHomeostasis'}]" }
{ "aliases": null, "definition": "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.", "id": "AbnormalMacularMorphology", "label": "Abnormal macular morphology", "logical_definition": null, "original_id": "HP:0001103", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRetinalMorphology" } ] }
0
{ "document": "Abnormal macular morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. [{'predicate': 'subClassOf', 'target': 'AbnormalRetinalMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of magnesium ion homeostasis.", "id": "AbnormalMagnesiumConcentration", "label": "Abnormal magnesium concentration", "logical_definition": null, "original_id": "HP:0004921", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodInorganicCationConcentration" } ] }
0
{ "document": "Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodInorganicCationConcentration'}]" }
{ "aliases": null, "definition": "A structural anomaly of a male reproductive cell.", "id": "AbnormalMaleGermCellMorphology", "label": "Abnormal male germ cell morphology", "logical_definition": null, "original_id": "HP:0012863", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalGermCellMorphology" } ] }
0
{ "document": "Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. [{'predicate': 'subClassOf', 'target': 'AbnormalGermCellMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the male internal genitalia.", "id": "AbnormalMaleInternalGenitaliaMorphology", "label": "Abnormal male internal genitalia morphology", "logical_definition": null, "original_id": "HP:0000022", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalInternalGenitalia" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheMaleGenitalia" } ] }
0
{ "document": "Abnormal male internal genitalia morphology An abnormality of the male internal genitalia. [{'predicate': 'subClassOf', 'target': 'AbnormalInternalGenitalia'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMaleGenitalia'}]" }
{ "aliases": null, "definition": "An abnormal functionality of the male genital system.", "id": "AbnormalMaleReproductiveSystemPhysiology", "label": "Abnormal male reproductive system physiology", "logical_definition": null, "original_id": "HP:0012874", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfReproductiveSystemPhysiology" } ] }
0
{ "document": "Abnormal male reproductive system physiology An abnormal functionality of the male genital system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfReproductiveSystemPhysiology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalMaleUrethralMeatusMorphology", "label": "Abnormal male urethral meatus morphology", "logical_definition": null, "original_id": "HP:0032076", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPenisMorphology" } ] }
0
{ "document": "Abnormal male urethral meatus morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalPenisMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of a mandible condylar process.", "id": "AbnormalMandibleCondylarProcessMorphology", "label": "Abnormal mandible condylar process morphology", "logical_definition": null, "original_id": "HP:3000077", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMandibleMorphology" }, { "predicate": "subClassOf", "target": "AbnormalOralMorphology" } ] }
0
{ "document": "Abnormal mandible condylar process morphology An abnormality of a mandible condylar process. [{'predicate': 'subClassOf', 'target': 'AbnormalMandibleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalOralMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of a mandible coronoid process.", "id": "AbnormalMandibleCoronoidProcessMorphology", "label": "Abnormal mandible coronoid process morphology", "logical_definition": null, "original_id": "HP:3000078", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMandibleMorphology" }, { "predicate": "subClassOf", "target": "AbnormalOralMorphology" } ] }
0
{ "document": "Abnormal mandible coronoid process morphology An abnormality of a mandible coronoid process. [{'predicate': 'subClassOf', 'target': 'AbnormalMandibleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalOralMorphology'}]" }
{ "aliases": null, "definition": "Any abnormality of the mandible, the bone of the lower jaw.", "id": "AbnormalMandibleMorphology", "label": "Abnormal mandible morphology", "logical_definition": null, "original_id": "HP:0000277", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalJawMorphology" } ] }
0
{ "document": "Abnormal mandible morphology Any abnormality of the mandible, the bone of the lower jaw. [{'predicate': 'subClassOf', 'target': 'AbnormalJawMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of a mandibular ramus.", "id": "AbnormalMandibularRamusMorphology", "label": "Abnormal mandibular ramus morphology", "logical_definition": null, "original_id": "HP:3000003", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalOralCavityMorphology" }, { "predicate": "subClassOf", "target": "AbnormalMandibleMorphology" } ] }
0
{ "document": "Abnormal mandibular ramus morphology An abnormality of a mandibular ramus. [{'predicate': 'subClassOf', 'target': 'AbnormalOralCavityMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMandibleMorphology'}]" }
{ "aliases": null, "definition": "A structural abnormality of a mandibular symphysis.", "id": "AbnormalMandibularSymphysisMorphology", "label": "Abnormal mandibular symphysis morphology", "logical_definition": null, "original_id": "HP:3000079", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalJointMorphology" }, { "predicate": "subClassOf", "target": "AbnormalSkeletalMorphology" }, { "predicate": "subClassOf", "target": "AbnormalOralMorphology" } ] }
0
{ "document": "Abnormal mandibular symphysis morphology A structural abnormality of a mandibular symphysis. [{'predicate': 'subClassOf', 'target': 'AbnormalJointMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalOralMorphology'}]" }
{ "aliases": null, "definition": "A deviation from the normal range of manganese in the blood circulation.", "id": "AbnormalManganeseConcentration", "label": "Abnormal manganese concentration", "logical_definition": null, "original_id": "HP:0032096", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBloodInorganicCationConcentration" } ] }
0
{ "document": "Abnormal manganese concentration A deviation from the normal range of manganese in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodInorganicCationConcentration'}]" }
{ "aliases": null, "definition": "An anomaly of the addition of mannose to N-linked glycans.", "id": "AbnormalMannosylationOfNLinkedProteinGlycosylation", "label": "Abnormal mannosylation of N-linked protein glycosylation", "logical_definition": null, "original_id": "HP:0012355", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProteinNLinkedGlycosylation" } ] }
0
{ "document": "Abnormal mannosylation of N-linked protein glycosylation An anomaly of the addition of mannose to N-linked glycans. [{'predicate': 'subClassOf', 'target': 'AbnormalProteinNLinkedGlycosylation'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalManualKineticPerimetryTest", "label": "Abnormal manual kinetic perimetry test", "logical_definition": null, "original_id": "HP:0030593", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalKineticPerimetryTest" } ] }
0
{ "document": "Abnormal manual kinetic perimetry test None [{'predicate': 'subClassOf', 'target': 'AbnormalKineticPerimetryTest'}]" }
{ "aliases": null, "definition": "Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.", "id": "AbnormalMastCellMorphology", "label": "Abnormal mast cell morphology", "logical_definition": null, "original_id": "HP:0100494", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalGranulocyteMorphology" } ] }
0
{ "document": "Abnormal mast cell morphology Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. [{'predicate': 'subClassOf', 'target': 'AbnormalGranulocyteMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.", "id": "AbnormalMastoidMorphology", "label": "Abnormal mastoid morphology", "logical_definition": null, "original_id": "HP:0000264", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkullMorphology" } ] }
0
{ "document": "Abnormal mastoid morphology An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. [{'predicate': 'subClassOf', 'target': 'AbnormalSkullMorphology'}]" }
{ "aliases": null, "definition": "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.", "id": "AbnormalMaternalSerumScreening", "label": "Abnormal maternal serum screening", "logical_definition": null, "original_id": "HP:0011436", "relationships": [ { "predicate": "subClassOf", "target": "PregnancyHistory" } ] }
0
{ "document": "Abnormal maternal serum screening An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. [{'predicate': 'subClassOf', 'target': 'PregnancyHistory'}]" }
{ "aliases": null, "definition": "An abnormality of the Maxilla (upper jaw bone).", "id": "AbnormalMaxillaMorphology", "label": "Abnormal maxilla morphology", "logical_definition": null, "original_id": "HP:0000326", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalJawMorphology" } ] }
0
{ "document": "Abnormal maxilla morphology An abnormality of the Maxilla (upper jaw bone). [{'predicate': 'subClassOf', 'target': 'AbnormalJawMorphology'}]" }
{ "aliases": null, "definition": "A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.", "id": "AbnormalMeanCorpuscularHemoglobinConcentration", "label": "Abnormal mean corpuscular hemoglobin concentration", "logical_definition": null, "original_id": "HP:0025546", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalErythrocyteMorphology" } ] }
0
{ "document": "Abnormal mean corpuscular hemoglobin concentration A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]" }
{ "aliases": null, "definition": "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.", "id": "AbnormalMeanCorpuscularVolume", "label": "Abnormal mean corpuscular volume", "logical_definition": null, "original_id": "HP:0025065", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalErythrocyteMorphology" } ] }
0
{ "document": "Abnormal mean corpuscular volume A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]" }
{ "aliases": null, "definition": "A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.", "id": "AbnormalMedialRectusMusclePhysiology", "label": "Abnormal medial rectus muscle physiology", "logical_definition": null, "original_id": "HP:0025606", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHorizontalRectusMusclePhysiology" } ] }
0
{ "document": "Abnormal medial rectus muscle physiology A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. [{'predicate': 'subClassOf', 'target': 'AbnormalHorizontalRectusMusclePhysiology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the central compartment of the thoracic cavity.", "id": "AbnormalMediastinumMorphology", "label": "Abnormal mediastinum morphology", "logical_definition": null, "original_id": "HP:0045026", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheThoracicCavity" } ] }
0
{ "document": "Abnormal mediastinum morphology Any structural anomaly of the central compartment of the thoracic cavity. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheThoracicCavity'}]" }
{ "aliases": null, "definition": "An abnormality of the medulla oblongata, the lower half of the brainstem.", "id": "AbnormalMedullaOblongataMorphology", "label": "Abnormal medulla oblongata morphology", "logical_definition": null, "original_id": "HP:0011441", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBrainstemMorphology" }, { "predicate": "subClassOf", "target": "AbnormalHindbrainMorphology" } ] }
0
{ "document": "Abnormal medulla oblongata morphology An abnormality of the medulla oblongata, the lower half of the brainstem. [{'predicate': 'subClassOf', 'target': 'AbnormalBrainstemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHindbrainMorphology'}]" }
{ "aliases": null, "definition": "Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.", "id": "AbnormalMedullaryPeritubularCapillaryLumenMorphology", "label": "Abnormal medullary peritubular capillary lumen morphology", "logical_definition": null, "original_id": "HP:0033868", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMedullaryPeritubularCapillaryMorphology" } ] }
0
{ "document": "Abnormal medullary peritubular capillary lumen morphology Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalMedullaryPeritubularCapillaryMorphology'}]" }
{ "aliases": null, "definition": "Anomalous structure of the peritubular capillaries located in the medulla of the kidney.", "id": "AbnormalMedullaryPeritubularCapillaryMorphology", "label": "Abnormal medullary peritubular capillary morphology", "logical_definition": null, "original_id": "HP:0033864", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPeritubularCapillaryMorphology" } ] }
0
{ "document": "Abnormal medullary peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalPeritubularCapillaryMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.", "id": "AbnormalMegakaryocyteMorphology", "label": "Abnormal megakaryocyte morphology", "logical_definition": null, "original_id": "HP:0012143", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfBoneMarrowCellMorphology" } ] }
0
{ "document": "Abnormal megakaryocyte morphology Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBoneMarrowCellMorphology'}]" }
{ "aliases": null, "definition": "Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.", "id": "AbnormalMeiosis", "label": "Abnormal meiosis", "logical_definition": null, "original_id": "HP:0031515", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalGametogenesis" } ] }
0
{ "document": "Abnormal meiosis Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. [{'predicate': 'subClassOf', 'target': 'AbnormalGametogenesis'}]" }