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{ "aliases": null, "definition": "Any structural abnormality of a cardiac valve.", "id": "AbnormalHeartValveMorphology", "label": "Abnormal heart valve morphology", "logical_definition": null, "original_id": "HP:0001654", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHeartMorphology" } ] }
0
{ "document": "Abnormal heart valve morphology Any structural abnormality of a cardiac valve. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]" }
{ "aliases": null, "definition": "Any functional abnormality of a cardiac valve.", "id": "AbnormalHeartValvePhysiology", "label": "Abnormal heart valve physiology", "logical_definition": null, "original_id": "HP:0031653", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCardiovascularSystemPhysiology" } ] }
0
{ "document": "Abnormal heart valve physiology Any functional abnormality of a cardiac valve. [{'predicate': 'subClassOf', 'target': 'AbnormalCardiovascularSystemPhysiology'}]" }
{ "aliases": null, "definition": "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.", "id": "AbnormalHelixMorphology", "label": "Abnormal helix morphology", "logical_definition": null, "original_id": "HP:0011039", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPinnaMorphology" } ] }
0
{ "document": "Abnormal helix morphology An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. [{'predicate': 'subClassOf', 'target': 'AbnormalPinnaMorphology'}]" }
{ "aliases": null, "definition": "Abnormal proportion of helper T cells relative to the total number of T cells.", "id": "AbnormalHelperTCellProportion", "label": "Abnormal helper T cell proportion", "logical_definition": null, "original_id": "HP:0500263", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTCellSubsetDistribution" } ] }
0
{ "document": "Abnormal helper T cell proportion Abnormal proportion of helper T cells relative to the total number of T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellSubsetDistribution'}]" }
{ "aliases": null, "definition": "Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.", "id": "AbnormalHematocrit", "label": "Abnormal hematocrit", "logical_definition": null, "original_id": "HP:0031850", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalErythrocyteMorphology" } ] }
0
{ "document": "Abnormal hematocrit Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalHemidiaphragmMorphology", "label": "Abnormal hemidiaphragm morphology", "logical_definition": null, "original_id": "HP:0040045", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheDiaphragm" } ] }
0
{ "document": "Abnormal hemidiaphragm morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheDiaphragm'}]" }
{ "aliases": null, "definition": "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.", "id": "AbnormalHemoglobin", "label": "Abnormal hemoglobin", "logical_definition": null, "original_id": "HP:0011902", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalErythrocyteMorphology" } ] }
0
{ "document": "Abnormal hemoglobin Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of hemoglobin in the blood.", "id": "AbnormalHemoglobinConcentration", "label": "Abnormal hemoglobin concentration", "logical_definition": null, "original_id": "HP:0020061", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalErythrocyteMorphology" } ] }
0
{ "document": "Abnormal hemoglobin concentration Any deviation from the normal concentration of hemoglobin in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]" }
{ "aliases": null, "definition": "Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).", "id": "AbnormalHepaticEchogenicity", "label": "Abnormal hepatic echogenicity", "logical_definition": null, "original_id": "HP:0031142", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLiverSonography" } ] }
0
{ "document": "Abnormal hepatic echogenicity Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). [{'predicate': 'subClassOf', 'target': 'AbnormalLiverSonography'}]" }
{ "aliases": null, "definition": "Change in normal glycogen storage content.", "id": "AbnormalHepaticGlycogenStorage", "label": "Abnormal hepatic glycogen storage", "logical_definition": null, "original_id": "HP:0500030", "relationships": [ { "predicate": "subClassOf", "target": "StorageInHepatocytes" } ] }
0
{ "document": "Abnormal hepatic glycogen storage Change in normal glycogen storage content. [{'predicate': 'subClassOf', 'target': 'StorageInHepatocytes'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalHepaticIronConcentration", "label": "Abnormal hepatic iron concentration", "logical_definition": null, "original_id": "HP:0040134", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalTissueMetaboliteConcentration" }, { "predicate": "subClassOf", "target": "AbnormalLiverMorphology" } ] }
0
{ "document": "Abnormal hepatic iron concentration None [{'predicate': 'subClassOf', 'target': 'AbnormalTissueMetaboliteConcentration'}, {'predicate': 'subClassOf', 'target': 'AbnormalLiverMorphology'}]" }
{ "aliases": null, "definition": "A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.", "id": "AbnormalHepatocyteMorphology", "label": "Abnormal hepatocyte morphology", "logical_definition": null, "original_id": "HP:0034713", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLiverParenchymaMorphology" } ] }
0
{ "document": "Abnormal hepatocyte morphology A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalLiverParenchymaMorphology'}]" }
{ "aliases": null, "definition": "An abnormal concentration of high-mannose N-glycans on glycoproteins.", "id": "AbnormalHighMannoseNGlycanLevel", "label": "Abnormal high-mannose N-glycan level", "logical_definition": null, "original_id": "HP:0410356", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProteinNLinkedGlycosylation" } ] }
0
{ "document": "Abnormal high-mannose N-glycan level An abnormal concentration of high-mannose N-glycans on glycoproteins. [{'predicate': 'subClassOf', 'target': 'AbnormalProteinNLinkedGlycosylation'}]" }
{ "aliases": null, "definition": "An abnormality of the hindbrain, also known as the rhombencephalon.", "id": "AbnormalHindbrainMorphology", "label": "Abnormal hindbrain morphology", "logical_definition": null, "original_id": "HP:0011282", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfBrainMorphology" } ] }
0
{ "document": "Abnormal hindbrain morphology An abnormality of the hindbrain, also known as the rhombencephalon. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBrainMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the hip bone.", "id": "AbnormalHipBoneMorphology", "label": "Abnormal hip bone morphology", "logical_definition": null, "original_id": "HP:0003272", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPelvicGirdleBoneMorphology" } ] }
0
{ "document": "Abnormal hip bone morphology An abnormality of the hip bone. [{'predicate': 'subClassOf', 'target': 'AbnormalPelvicGirdleBoneMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the hip joint.", "id": "AbnormalHipJointMorphology", "label": "Abnormal hip joint morphology", "logical_definition": null, "original_id": "HP:0001384", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHipBoneMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheSynovia" }, { "predicate": "subClassOf", "target": "AbnormalityOfLowerLimbJoint" } ] }
0
{ "document": "Abnormal hip joint morphology An abnormality of the hip joint. [{'predicate': 'subClassOf', 'target': 'AbnormalHipBoneMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheSynovia'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfLowerLimbJoint'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the hippocampus,", "id": "AbnormalHippocampusMorphology", "label": "Abnormal hippocampus morphology", "logical_definition": null, "original_id": "HP:0025100", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMorphologyOfTheLimbicSystem" } ] }
0
{ "document": "Abnormal hippocampus morphology Any structural anomaly of the hippocampus, [{'predicate': 'subClassOf', 'target': 'AbnormalMorphologyOfTheLimbicSystem'}]" }
{ "aliases": null, "definition": "An anomaly in the processes involved in the maintenance of an internal equilibrium.", "id": "AbnormalHomeostasis", "label": "Abnormal homeostasis", "logical_definition": null, "original_id": "HP:0012337", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfMetabolismHomeostasis" } ] }
0
{ "document": "Abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}]" }
{ "aliases": null, "definition": "A functional anomaly of the medial rectus muscle or lateral rectus muscle.", "id": "AbnormalHorizontalRectusMusclePhysiology", "label": "Abnormal horizontal rectus muscle physiology", "logical_definition": null, "original_id": "HP:0031740", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRectusMusclePhysiology" } ] }
0
{ "document": "Abnormal horizontal rectus muscle physiology A functional anomaly of the medial rectus muscle or lateral rectus muscle. [{'predicate': 'subClassOf', 'target': 'AbnormalRectusMusclePhysiology'}]" }
{ "aliases": null, "definition": "An anomaly of the humeral diaphysis.", "id": "AbnormalHumeralDiaphysisMorphology", "label": "Abnormal humeral diaphysis morphology", "logical_definition": null, "original_id": "HP:0003926", "relationships": [ { "predicate": "subClassOf", "target": "AnomalyOfTheUpperLimbDiaphyses" }, { "predicate": "subClassOf", "target": "AbnormalHumerusMorphology" } ] }
0
{ "document": "Abnormal humeral diaphysis morphology An anomaly of the humeral diaphysis. [{'predicate': 'subClassOf', 'target': 'AnomalyOfTheUpperLimbDiaphyses'}, {'predicate': 'subClassOf', 'target': 'AbnormalHumerusMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalHumeralHeadMorphology", "label": "Abnormal humeral head morphology", "logical_definition": null, "original_id": "HP:0003887", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHumerusMorphology" } ] }
0
{ "document": "Abnormal humeral head morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalHumerusMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalHumeralMetaphysisMorphology", "label": "Abnormal humeral metaphysis morphology", "logical_definition": null, "original_id": "HP:0003907", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheHumerus" }, { "predicate": "subClassOf", "target": "AbnormalUpperLimbMetaphysisMorphology" } ] }
0
{ "document": "Abnormal humeral metaphysis morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheHumerus'}, {'predicate': 'subClassOf', 'target': 'AbnormalUpperLimbMetaphysisMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the process of formation of bone in the humerus.", "id": "AbnormalHumeralOssification", "label": "Abnormal humeral ossification", "logical_definition": null, "original_id": "HP:0012791", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheHumerus" }, { "predicate": "subClassOf", "target": "AbnormalEnchondralOssification" } ] }
0
{ "document": "Abnormal humeral ossification An anomaly of the process of formation of bone in the humerus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheHumerus'}, {'predicate': 'subClassOf', 'target': 'AbnormalEnchondralOssification'}]" }
{ "aliases": null, "definition": "Any anomaly of the structure of the humerus.", "id": "AbnormalHumerusMorphology", "label": "Abnormal humerus morphology", "logical_definition": null, "original_id": "HP:0031095", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheHumerus" }, { "predicate": "subClassOf", "target": "AbnormalLongBoneMorphology" }, { "predicate": "subClassOf", "target": "AbnormalUpperLimbBoneMorphology" } ] }
0
{ "document": "Abnormal humerus morphology Any anomaly of the structure of the humerus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheHumerus'}, {'predicate': 'subClassOf', 'target': 'AbnormalLongBoneMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalUpperLimbBoneMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalHumphreySITA102PerimetryTest", "label": "Abnormal Humphrey SITA 10-2 perimetry test", "logical_definition": null, "original_id": "HP:0030598", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalStaticAutomatedPerimetryTest" } ] }
0
{ "document": "Abnormal Humphrey SITA 10-2 perimetry test None [{'predicate': 'subClassOf', 'target': 'AbnormalStaticAutomatedPerimetryTest'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalHumphreySITA242PerimetryTest", "label": "Abnormal Humphrey SITA 24-2 perimetry test", "logical_definition": null, "original_id": "HP:0030597", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalStaticAutomatedPerimetryTest" } ] }
0
{ "document": "Abnormal Humphrey SITA 24-2 perimetry test None [{'predicate': 'subClassOf', 'target': 'AbnormalStaticAutomatedPerimetryTest'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalHumphreySITA302PerimetryTest", "label": "Abnormal Humphrey SITA 30-2 perimetry test", "logical_definition": null, "original_id": "HP:0030596", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalStaticAutomatedPerimetryTest" } ] }
0
{ "document": "Abnormal Humphrey SITA 30-2 perimetry test None [{'predicate': 'subClassOf', 'target': 'AbnormalStaticAutomatedPerimetryTest'}]" }
{ "aliases": null, "definition": "An abnormality of a hyoglossus muscle.", "id": "AbnormalHyoglossusMuscleMorphology", "label": "Abnormal hyoglossus muscle morphology", "logical_definition": null, "original_id": "HP:3000051", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkeletalMuscleMorphology" }, { "predicate": "subClassOf", "target": "AbnormalTongueMorphology" } ] }
0
{ "document": "Abnormal hyoglossus muscle morphology An abnormality of a hyoglossus muscle. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalTongueMorphology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.", "id": "AbnormalHyoidBoneMorphology", "label": "Abnormal hyoid bone morphology", "logical_definition": null, "original_id": "HP:3000052", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkeletalMorphology" } ] }
0
{ "document": "Abnormal hyoid bone morphology Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]" }
{ "aliases": null, "definition": "A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.", "id": "AbnormalHypopharynxMorphology", "label": "Abnormal hypopharynx morphology", "logical_definition": null, "original_id": "HP:3000053", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPharynxMorphology" } ] }
0
{ "document": "Abnormal hypopharynx morphology A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. [{'predicate': 'subClassOf', 'target': 'AbnormalPharynxMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the hypothalamus.", "id": "AbnormalHypothalamusMorphology", "label": "Abnormal hypothalamus morphology", "logical_definition": null, "original_id": "HP:0012286", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheDiencephalon" } ] }
0
{ "document": "Abnormal hypothalamus morphology Any structural anomaly of the hypothalamus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheDiencephalon'}]" }
{ "aliases": null, "definition": "An abnormal functionality of the hypothalamus.", "id": "AbnormalHypothalamusPhysiology", "label": "Abnormal hypothalamus physiology", "logical_definition": null, "original_id": "HP:0012285", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheHypothalamusPituitaryAxis" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheDiencephalon" }, { "predicate": "subClassOf", "target": "AbnormalNervousSystemPhysiology" } ] }
0
{ "document": "Abnormal hypothalamus physiology An abnormal functionality of the hypothalamus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheHypothalamusPituitaryAxis'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheDiencephalon'}, {'predicate': 'subClassOf', 'target': 'AbnormalNervousSystemPhysiology'}]" }
{ "aliases": null, "definition": "Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.", "id": "AbnormalHypoxanthineGuaninePhosphoribosyltransferaseLevel", "label": "Abnormal hypoxanthine-guanine phosphoribosyltransferase level", "logical_definition": null, "original_id": "HP:0031821", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingEnzymeConcentrationOrActivity" } ] }
0
{ "document": "Abnormal hypoxanthine-guanine phosphoribosyltransferase level Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalIduronateSulfataseConcentration", "label": "Abnormal iduronate sulfatase concentration", "logical_definition": null, "original_id": "HP:0034202", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingEnzymeConcentrationOrActivity" } ] }
0
{ "document": "Abnormal iduronate sulfatase concentration None [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingEnzymeConcentrationOrActivity'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalIleumMorphology", "label": "Abnormal ileum morphology", "logical_definition": null, "original_id": "HP:0001549", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSmallIntestineMorphology" } ] }
0
{ "document": "Abnormal ileum morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalSmallIntestineMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the iliac artery.", "id": "AbnormalIliacArteryMorphology", "label": "Abnormal iliac artery morphology", "logical_definition": null, "original_id": "HP:4000066", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSystemicArterialMorphology" } ] }
0
{ "document": "Abnormal iliac artery morphology Any structural anomaly of the iliac artery. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.", "id": "AbnormalIliacWingMorphology", "label": "Abnormal iliac wing morphology", "logical_definition": null, "original_id": "HP:0011867", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalIliumMorphology" } ] }
0
{ "document": "Abnormal iliac wing morphology An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. [{'predicate': 'subClassOf', 'target': 'AbnormalIliumMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the ilium, the largest and uppermost bone of the pelvis.", "id": "AbnormalIliumMorphology", "label": "Abnormal ilium morphology", "logical_definition": null, "original_id": "HP:0002867", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHipBoneMorphology" } ] }
0
{ "document": "Abnormal ilium morphology An abnormality of the ilium, the largest and uppermost bone of the pelvis. [{'predicate': 'subClassOf', 'target': 'AbnormalHipBoneMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalImmuneSystemMorphology", "label": "Abnormal immune system morphology", "logical_definition": null, "original_id": "HP:0032251", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheImmuneSystem" } ] }
0
{ "document": "Abnormal immune system morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheImmuneSystem'}]" }
{ "aliases": null, "definition": "An abnormal deviation from normal levels of immunoglobulins in blood.", "id": "AbnormalImmunoglobulinLevel", "label": "Abnormal immunoglobulin level", "logical_definition": null, "original_id": "HP:0010701", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfHumoralImmunity" }, { "predicate": "subClassOf", "target": "AbnormalityOfBCellPhysiology" } ] }
0
{ "document": "Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfHumoralImmunity'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfBCellPhysiology'}]" }
{ "aliases": null, "definition": "An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.", "id": "AbnormalImmunoglobulinLevelInBodyFluid", "label": "Abnormal immunoglobulin level in body fluid", "logical_definition": null, "original_id": "HP:0041076", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfBCellPhysiology" } ] }
0
{ "document": "Abnormal immunoglobulin level in body fluid An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBCellPhysiology'}]" }
{ "aliases": null, "definition": "An abnormality of morphology of the incisor tooth.", "id": "AbnormalIncisorMorphology", "label": "Abnormal incisor morphology", "logical_definition": null, "original_id": "HP:0011063", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheIncisor" }, { "predicate": "subClassOf", "target": "AbnormalityOfDentalMorphology" } ] }
0
{ "document": "Abnormal incisor morphology An abnormality of morphology of the incisor tooth. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheIncisor'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfDentalMorphology'}]" }
{ "aliases": null, "definition": "An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.", "id": "AbnormalIncisuraMorphology", "label": "Abnormal incisura morphology", "logical_definition": null, "original_id": "HP:0031228", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHelixMorphology" } ] }
0
{ "document": "Abnormal incisura morphology An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. [{'predicate': 'subClassOf', 'target': 'AbnormalHelixMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalIndocyanineGreenAngiography", "label": "Abnormal indocyanine green angiography", "logical_definition": null, "original_id": "HP:0030605", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalPosteriorSegmentImaging" } ] }
0
{ "document": "Abnormal indocyanine green angiography None [{'predicate': 'subClassOf', 'target': 'AbnormalPosteriorSegmentImaging'}]" }
{ "aliases": null, "definition": "An abnormality of an inferior alveolar artery.", "id": "AbnormalInferiorAlveolarArteryMorphology", "label": "Abnormal inferior alveolar artery morphology", "logical_definition": null, "original_id": "HP:3000054", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalOralMorphology" }, { "predicate": "subClassOf", "target": "AbnormalHeadBloodVesselMorphology" } ] }
0
{ "document": "Abnormal inferior alveolar artery morphology An abnormality of an inferior alveolar artery. [{'predicate': 'subClassOf', 'target': 'AbnormalOralMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHeadBloodVesselMorphology'}]" }
{ "aliases": null, "definition": "A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.", "id": "AbnormalInferiorObliqueMusclePhysiology", "label": "Abnormal inferior oblique muscle physiology", "logical_definition": null, "original_id": "HP:0025596", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalObliqueMusclePhysiology" } ] }
0
{ "document": "Abnormal inferior oblique muscle physiology A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. [{'predicate': 'subClassOf', 'target': 'AbnormalObliqueMusclePhysiology'}]" }
{ "aliases": null, "definition": "A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.", "id": "AbnormalInferiorRectusMusclePhysiology", "label": "Abnormal inferior rectus muscle physiology", "logical_definition": null, "original_id": "HP:0025600", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVerticalRectusMusclePhysiology" } ] }
0
{ "document": "Abnormal inferior rectus muscle physiology A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. [{'predicate': 'subClassOf', 'target': 'AbnormalVerticalRectusMusclePhysiology'}]" }
{ "aliases": null, "definition": "An abnormality of an inferior thyroid vein.", "id": "AbnormalInferiorThyroidVeinMorphology", "label": "Abnormal inferior thyroid vein morphology", "logical_definition": null, "original_id": "HP:3000059", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVenousMorphology" } ] }
0
{ "document": "Abnormal inferior thyroid vein morphology An abnormality of an inferior thyroid vein. [{'predicate': 'subClassOf', 'target': 'AbnormalVenousMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the principal vein draining blood from the lower portion of the body.", "id": "AbnormalInferiorVenaCavaMorphology", "label": "Abnormal inferior vena cava morphology", "logical_definition": null, "original_id": "HP:0025576", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVenaCavaMorphology" } ] }
0
{ "document": "Abnormal inferior vena cava morphology Any structural anomaly of the principal vein draining blood from the lower portion of the body. [{'predicate': 'subClassOf', 'target': 'AbnormalVenaCavaMorphology'}]" }
{ "aliases": null, "definition": "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.", "id": "AbnormalInflammatoryResponse", "label": "Abnormal inflammatory response", "logical_definition": null, "original_id": "HP:0012647", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfImmuneSystemPhysiology" } ] }
0
{ "document": "Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfImmuneSystemPhysiology'}]" }
{ "aliases": null, "definition": "An abnormality of an infraorbital artery.", "id": "AbnormalInfraorbitalArteryMorphology", "label": "Abnormal infraorbital artery morphology", "logical_definition": null, "original_id": "HP:3000060", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVascularMorphology" } ] }
0
{ "document": "Abnormal infraorbital artery morphology An abnormality of an infraorbital artery. [{'predicate': 'subClassOf', 'target': 'AbnormalVascularMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of an inner ear epithelium.", "id": "AbnormalInnerEarEpitheliumMorphology", "label": "Abnormal inner ear epithelium morphology", "logical_definition": null, "original_id": "HP:3000002", "relationships": [ { "predicate": "subClassOf", "target": "MorphologicalAbnormalityOfTheInnerEar" } ] }
0
{ "document": "Abnormal inner ear epithelium morphology Any structural anomaly of an inner ear epithelium. [{'predicate': 'subClassOf', 'target': 'MorphologicalAbnormalityOfTheInnerEar'}]" }
{ "aliases": null, "definition": "Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.", "id": "AbnormalInsertionOfUmbilicalCord", "label": "Abnormal insertion of umbilical cord", "logical_definition": null, "original_id": "HP:0011418", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheUmbilicalCord" } ] }
0
{ "document": "Abnormal insertion of umbilical cord Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUmbilicalCord'}]" }
{ "aliases": null, "definition": "A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.", "id": "AbnormalInsulinLikeGrowthFactorBindingProteinAcidLabileSubunitLevel", "label": "Abnormal insulin like growth factor binding protein acid labile subunit level", "logical_definition": null, "original_id": "HP:0031034", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCirculatingProteinConcentration" } ] }
0
{ "document": "Abnormal insulin like growth factor binding protein acid labile subunit level A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. [{'predicate': 'subClassOf', 'target': 'AbnormalCirculatingProteinConcentration'}]" }
{ "aliases": null, "definition": "Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.", "id": "AbnormalInterest", "label": "Abnormal interest", "logical_definition": null, "original_id": "HP:4000068", "relationships": [ { "predicate": "subClassOf", "target": "AtypicalBehavior" } ] }
0
{ "document": "Abnormal interest Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something. [{'predicate': 'subClassOf', 'target': 'AtypicalBehavior'}]" }
{ "aliases": null, "definition": "A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.", "id": "AbnormalInterestInOthers", "label": "Abnormal interest in others", "logical_definition": null, "original_id": "HP:5200020", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSocialBehavior" } ] }
0
{ "document": "Abnormal interest in others A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people. [{'predicate': 'subClassOf', 'target': 'AbnormalSocialBehavior'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.", "id": "AbnormalInterlobularVeinIntimaMediaMorphology", "label": "Abnormal interlobular vein intima/media morphology", "logical_definition": null, "original_id": "HP:0033963", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalInterlobularVeinMorphology" } ] }
0
{ "document": "Abnormal interlobular vein intima/media morphology Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalInterlobularVeinMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly located in the the inside space of the interlobular veins of the kidney.", "id": "AbnormalInterlobularVeinLumenMorphology", "label": "Abnormal interlobular vein lumen morphology", "logical_definition": null, "original_id": "HP:0033855", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalInterlobularVeinMorphology" } ] }
0
{ "document": "Abnormal interlobular vein lumen morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalInterlobularVeinMorphology'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).", "id": "AbnormalInterlobularVeinMorphology", "label": "Abnormal interlobular vein morphology", "logical_definition": null, "original_id": "HP:0033854", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalIntrarenalVeinMorphology" } ] }
0
{ "document": "Abnormal interlobular vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). [{'predicate': 'subClassOf', 'target': 'AbnormalIntrarenalVeinMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalIntermamillaryDistance", "label": "Abnormal intermamillary distance", "logical_definition": null, "original_id": "HP:0040157", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalNippleMorphology" } ] }
0
{ "document": "Abnormal intermamillary distance None [{'predicate': 'subClassOf', 'target': 'AbnormalNippleMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of an internal carotid artery.", "id": "AbnormalInternalCarotidArteryMorphology", "label": "Abnormal internal carotid artery morphology", "logical_definition": null, "original_id": "HP:3000062", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalCarotidArteryMorphology" }, { "predicate": "subClassOf", "target": "AbnormalHeadBloodVesselMorphology" } ] }
0
{ "document": "Abnormal internal carotid artery morphology An abnormality of an internal carotid artery. [{'predicate': 'subClassOf', 'target': 'AbnormalCarotidArteryMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHeadBloodVesselMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).", "id": "AbnormalInternalGenitalia", "label": "Abnormal internal genitalia", "logical_definition": null, "original_id": "HP:0000812", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalReproductiveSystemMorphology" } ] }
0
{ "document": "Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). [{'predicate': 'subClassOf', 'target': 'AbnormalReproductiveSystemMorphology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of the intervertebral disk.", "id": "AbnormalIntervertebralDiskMorphology", "label": "Abnormal intervertebral disk morphology", "logical_definition": null, "original_id": "HP:0005108", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheVertebralColumn" } ] }
0
{ "document": "Abnormal intervertebral disk morphology Any structural abnormality of the intervertebral disk. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheVertebralColumn'}]" }
{ "aliases": null, "definition": "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.", "id": "AbnormalIntestineMorphology", "label": "Abnormal intestine morphology", "logical_definition": null, "original_id": "HP:0002242", "relationships": [ { "predicate": "subClassOf", "target": "MorphologicalAbnormalityOfTheGastrointestinalTract" } ] }
0
{ "document": "Abnormal intestine morphology An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [{'predicate': 'subClassOf', 'target': 'MorphologicalAbnormalityOfTheGastrointestinalTract'}]" }
{ "aliases": null, "definition": "Abnormal rise and fall of the voice in speech and vocalization.", "id": "AbnormalIntonation", "label": "Abnormal Intonation", "logical_definition": null, "original_id": "HP:5200010", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProsody" } ] }
0
{ "document": "Abnormal Intonation Abnormal rise and fall of the voice in speech and vocalization. [{'predicate': 'subClassOf', 'target': 'AbnormalProsody'}]" }
{ "aliases": null, "definition": "An abnormality of the intrahepatic bile duct.", "id": "AbnormalIntrahepaticBileDuctMorphology", "label": "Abnormal intrahepatic bile duct morphology", "logical_definition": null, "original_id": "HP:0011040", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBiliaryTractMorphology" } ] }
0
{ "document": "Abnormal intrahepatic bile duct morphology An abnormality of the intrahepatic bile duct. [{'predicate': 'subClassOf', 'target': 'AbnormalBiliaryTractMorphology'}]" }
{ "aliases": null, "definition": "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.", "id": "AbnormalIntramembranousOssification", "label": "Abnormal intramembranous ossification", "logical_definition": null, "original_id": "HP:0012790", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalBoneOssification" } ] }
0
{ "document": "Abnormal intramembranous ossification An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. [{'predicate': 'subClassOf', 'target': 'AbnormalBoneOssification'}]" }
{ "aliases": null, "definition": "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.", "id": "AbnormalIntraocularPressure", "label": "Abnormal intraocular pressure", "logical_definition": null, "original_id": "HP:0012632", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalEyePhysiology" } ] }
0
{ "document": "Abnormal intraocular pressure An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. [{'predicate': 'subClassOf', 'target': 'AbnormalEyePhysiology'}]" }
{ "aliases": null, "definition": "An anomalous structure of an artery located in the kidney.", "id": "AbnormalIntrarenalArteryMorphology", "label": "Abnormal intrarenal artery morphology", "logical_definition": null, "original_id": "HP:0033836", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRenalVascularMorphology" } ] }
0
{ "document": "Abnormal intrarenal artery morphology An anomalous structure of an artery located in the kidney. [{'predicate': 'subClassOf', 'target': 'AbnormalRenalVascularMorphology'}]" }
{ "aliases": null, "definition": "Abnormal structure of a vein located inside the kidney parenchyma.", "id": "AbnormalIntrarenalVeinMorphology", "label": "Abnormal intrarenal vein morphology", "logical_definition": null, "original_id": "HP:0033852", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalRenalVascularMorphology" } ] }
0
{ "document": "Abnormal intrarenal vein morphology Abnormal structure of a vein located inside the kidney parenchyma. [{'predicate': 'subClassOf', 'target': 'AbnormalRenalVascularMorphology'}]" }
{ "aliases": null, "definition": "Anomalous movements of the eyes that occur without the subject wanting them to happen.", "id": "AbnormalInvoluntaryEyeMovements", "label": "Abnormal involuntary eye movements", "logical_definition": null, "original_id": "HP:0012547", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfEyeMovement" } ] }
0
{ "document": "Abnormal involuntary eye movements Anomalous movements of the eyes that occur without the subject wanting them to happen. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfEyeMovement'}]" }
{ "aliases": null, "definition": "Abnormal pigmentation of the iris.", "id": "AbnormalIrisPigmentation", "label": "Abnormal iris pigmentation", "logical_definition": null, "original_id": "HP:0008034", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityIrisMorphology" } ] }
0
{ "document": "Abnormal iris pigmentation Abnormal pigmentation of the iris. [{'predicate': 'subClassOf', 'target': 'AbnormalityIrisMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalIrisVasculature", "label": "Abnormal iris vasculature", "logical_definition": null, "original_id": "HP:0007905", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityIrisMorphology" }, { "predicate": "subClassOf", "target": "AbnormalityOfTheVasculatureOfTheEye" } ] }
0
{ "document": "Abnormal iris vasculature None [{'predicate': 'subClassOf', 'target': 'AbnormalityIrisMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheVasculatureOfTheEye'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalIronDepositionInMitochondria", "label": "Abnormal iron deposition in mitochondria", "logical_definition": null, "original_id": "HP:0008306", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfMitochondrialMetabolism" } ] }
0
{ "document": "Abnormal iron deposition in mitochondria None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMitochondrialMetabolism'}]" }
{ "aliases": null, "definition": "An anomaly of the ischium, which forms the lower and back part of the hip bone.", "id": "AbnormalIschiumMorphology", "label": "Abnormal ischium morphology", "logical_definition": null, "original_id": "HP:0003174", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalHipBoneMorphology" } ] }
0
{ "document": "Abnormal ischium morphology An anomaly of the ischium, which forms the lower and back part of the hip bone. [{'predicate': 'subClassOf', 'target': 'AbnormalHipBoneMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalIshiharaPlateTest", "label": "Abnormal Ishihara plate test", "logical_definition": null, "original_id": "HP:0030586", "relationships": [ { "predicate": "subClassOf", "target": "ColorVisionTestAbnormality" } ] }
0
{ "document": "Abnormal Ishihara plate test None [{'predicate': 'subClassOf', 'target': 'ColorVisionTestAbnormality'}]" }
{ "aliases": null, "definition": "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.", "id": "AbnormalIsoelectricFocusingOfSerumTransferrin", "label": "Abnormal isoelectric focusing of serum transferrin", "logical_definition": null, "original_id": "HP:0003160", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalProteinNLinkedGlycosylation" } ] }
0
{ "document": "Abnormal isoelectric focusing of serum transferrin Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. [{'predicate': 'subClassOf', 'target': 'AbnormalProteinNLinkedGlycosylation'}]" }
{ "aliases": null, "definition": "An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).", "id": "AbnormalIsohemagglutininLevel", "label": "Abnormal isohemagglutinin level", "logical_definition": null, "original_id": "HP:0410292", "relationships": [ { "predicate": "subClassOf", "target": "DecreasedCirculatingLevelOfSpecificAntibody" } ] }
0
{ "document": "Abnormal isohemagglutinin level An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). [{'predicate': 'subClassOf', 'target': 'DecreasedCirculatingLevelOfSpecificAntibody'}]" }
{ "aliases": null, "definition": "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.", "id": "AbnormalJawMorphology", "label": "Abnormal jaw morphology", "logical_definition": null, "original_id": "HP:0030791", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalFacialSkeletonMorphology" } ] }
0
{ "document": "Abnormal jaw morphology A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. [{'predicate': 'subClassOf', 'target': 'AbnormalFacialSkeletonMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the jejunum, i.e., of the middle section of the small intestine.", "id": "AbnormalJejunumMorphology", "label": "Abnormal jejunum morphology", "logical_definition": null, "original_id": "HP:0005265", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSmallIntestineMorphology" } ] }
0
{ "document": "Abnormal jejunum morphology An abnormality of the jejunum, i.e., of the middle section of the small intestine. [{'predicate': 'subClassOf', 'target': 'AbnormalSmallIntestineMorphology'}]" }
{ "aliases": null, "definition": "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.", "id": "AbnormalJointMorphology", "label": "Abnormal joint morphology", "logical_definition": null, "original_id": "HP:0001367", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSkeletalMorphology" } ] }
0
{ "document": "Abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalJointPhysiology", "label": "Abnormal joint physiology", "logical_definition": null, "original_id": "HP:0034430", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalMusculoskeletalPhysiology" } ] }
0
{ "document": "Abnormal joint physiology None [{'predicate': 'subClassOf', 'target': 'AbnormalMusculoskeletalPhysiology'}]" }
{ "aliases": null, "definition": "Any structural abnormality of a jugular vein.", "id": "AbnormalJugularVeinMorphology", "label": "Abnormal jugular vein morphology", "logical_definition": null, "original_id": "HP:3000042", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVenousMorphology" }, { "predicate": "subClassOf", "target": "AbnormalNeckBloodVesselMorphology" } ] }
0
{ "document": "Abnormal jugular vein morphology Any structural abnormality of a jugular vein. [{'predicate': 'subClassOf', 'target': 'AbnormalVenousMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalNeckBloodVesselMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.", "id": "AbnormalJugularVenousPressure", "label": "Abnormal jugular venous pressure", "logical_definition": null, "original_id": "HP:0030847", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfVenousPhysiology" } ] }
0
{ "document": "Abnormal jugular venous pressure An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVenousPhysiology'}]" }
{ "aliases": null, "definition": "Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.", "id": "AbnormalKCO", "label": "Abnormal KCO", "logical_definition": null, "original_id": "HP:0033372", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOnPulmonaryFunctionTesting" } ] }
0
{ "document": "Abnormal KCO Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. [{'predicate': 'subClassOf', 'target': 'AbnormalityOnPulmonaryFunctionTesting'}]" }
{ "aliases": null, "definition": "Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.", "id": "AbnormalKeratinocyteMorphology", "label": "Abnormal keratinocyte morphology", "logical_definition": null, "original_id": "HP:0034702", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalEpidermalMorphology" } ] }
0
{ "document": "Abnormal keratinocyte morphology Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier. [{'predicate': 'subClassOf', 'target': 'AbnormalEpidermalMorphology'}]" }
{ "aliases": null, "definition": null, "id": "AbnormalKineticPerimetryTest", "label": "Abnormal kinetic perimetry test", "logical_definition": null, "original_id": "HP:0030591", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalVisualFieldTest" } ] }
0
{ "document": "Abnormal kinetic perimetry test None [{'predicate': 'subClassOf', 'target': 'AbnormalVisualFieldTest'}]" }
{ "aliases": null, "definition": "A structural abnormality of the knee joint or surrounding structures.", "id": "AbnormalKneeMorphology", "label": "Abnormal knee morphology", "logical_definition": null, "original_id": "HP:0034669", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheKnee" } ] }
0
{ "document": "Abnormal knee morphology A structural abnormality of the knee joint or surrounding structures. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheKnee'}]" }
{ "aliases": null, "definition": "A functional anomaly of the knee joint.", "id": "AbnormalKneePhysiology", "label": "Abnormal knee physiology", "logical_definition": null, "original_id": "HP:0034670", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfTheKnee" } ] }
0
{ "document": "Abnormal knee physiology A functional anomaly of the knee joint. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheKnee'}]" }
{ "aliases": null, "definition": "Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.", "id": "AbnormalLDLCholesterolConcentration", "label": "Abnormal LDL cholesterol concentration", "logical_definition": null, "original_id": "HP:0031886", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfLipoproteinCholesterolConcentration" } ] }
0
{ "document": "Abnormal LDL cholesterol concentration Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLipoproteinCholesterolConcentration'}]" }
{ "aliases": null, "definition": "An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.", "id": "AbnormalLSelectinShedding", "label": "Abnormal L-selectin shedding", "logical_definition": null, "original_id": "HP:0410251", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfNeutrophilPhysiology" } ] }
0
{ "document": "Abnormal L-selectin shedding An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfNeutrophilPhysiology'}]" }
{ "aliases": null, "definition": "An anomaly of the outer labia.", "id": "AbnormalLabiaMajoraMorphology", "label": "Abnormal labia majora morphology", "logical_definition": null, "original_id": "HP:0012881", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLabiaMorphology" } ] }
0
{ "document": "Abnormal labia majora morphology An anomaly of the outer labia. [{'predicate': 'subClassOf', 'target': 'AbnormalLabiaMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the labia minora, the folds of skin between the outer labia.", "id": "AbnormalLabiaMinoraMorphology", "label": "Abnormal labia minora morphology", "logical_definition": null, "original_id": "HP:0012880", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalLabiaMorphology" } ] }
0
{ "document": "Abnormal labia minora morphology An anomaly of the labia minora, the folds of skin between the outer labia. [{'predicate': 'subClassOf', 'target': 'AbnormalLabiaMorphology'}]" }
{ "aliases": null, "definition": "An anomaly of the labia, the externally visible portions of the vulva.", "id": "AbnormalLabiaMorphology", "label": "Abnormal labia morphology", "logical_definition": null, "original_id": "HP:0000058", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalityOfFemaleExternalGenitalia" } ] }
0
{ "document": "Abnormal labia morphology An anomaly of the labia, the externally visible portions of the vulva. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfFemaleExternalGenitalia'}]" }
{ "aliases": null, "definition": "An abnormality of a lacrimal artery.", "id": "AbnormalLacrimalArteryMorphology", "label": "Abnormal lacrimal artery morphology", "logical_definition": null, "original_id": "HP:3000065", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalSystemicArterialMorphology" }, { "predicate": "subClassOf", "target": "AbnormalHeadBloodVesselMorphology" } ] }
0
{ "document": "Abnormal lacrimal artery morphology An abnormality of a lacrimal artery. [{'predicate': 'subClassOf', 'target': 'AbnormalSystemicArterialMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHeadBloodVesselMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the lacrimal bone.", "id": "AbnormalLacrimalBoneMorphology", "label": "Abnormal lacrimal bone morphology", "logical_definition": null, "original_id": "HP:0430002", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalFacialSkeletonMorphology" } ] }
0
{ "document": "Abnormal lacrimal bone morphology An abnormality of the lacrimal bone. [{'predicate': 'subClassOf', 'target': 'AbnormalFacialSkeletonMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.", "id": "AbnormalLacrimalDuctMorphology", "label": "Abnormal lacrimal duct morphology", "logical_definition": null, "original_id": "HP:0011481", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalNasolacrimalSystemMorphology" } ] }
0
{ "document": "Abnormal lacrimal duct morphology An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. [{'predicate': 'subClassOf', 'target': 'AbnormalNasolacrimalSystemMorphology'}]" }
{ "aliases": null, "definition": "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.", "id": "AbnormalLacrimalGlandMorphology", "label": "Abnormal lacrimal gland morphology", "logical_definition": null, "original_id": "HP:0011482", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalNasolacrimalSystemMorphology" } ] }
0
{ "document": "Abnormal lacrimal gland morphology Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. [{'predicate': 'subClassOf', 'target': 'AbnormalNasolacrimalSystemMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.", "id": "AbnormalLacrimalPunctumMorphology", "label": "Abnormal lacrimal punctum morphology", "logical_definition": null, "original_id": "HP:0011479", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalNasolacrimalSystemMorphology" } ] }
0
{ "document": "Abnormal lacrimal punctum morphology An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. [{'predicate': 'subClassOf', 'target': 'AbnormalNasolacrimalSystemMorphology'}]" }
{ "aliases": null, "definition": "An abnormality of a lacrimal sac.", "id": "AbnormalLacrimalSacMorphology", "label": "Abnormal lacrimal sac morphology", "logical_definition": null, "original_id": "HP:3000066", "relationships": [ { "predicate": "subClassOf", "target": "AbnormalNasolacrimalSystemMorphology" } ] }
0
{ "document": "Abnormal lacrimal sac morphology An abnormality of a lacrimal sac. [{'predicate': 'subClassOf', 'target': 'AbnormalNasolacrimalSystemMorphology'}]" }