0
dict | 1
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| 2
dict |
|---|---|---|
{
"aliases": null,
"definition": "An abnormality of the tonsils.",
"id": "AbnormalityOfTheTonsils",
"label": "Abnormality of the tonsils",
"logical_definition": null,
"original_id": "HP:0100765",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheLymphaticSystem"
}
]
}
| 0 |
{
"document": "Abnormality of the tonsils An abnormality of the tonsils. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLymphaticSystem'}]"
}
|
{
"aliases": null,
"definition": "An anomaly of trapezium.",
"id": "AbnormalityOfTheTrapezium",
"label": "Abnormality of the trapezium",
"logical_definition": null,
"original_id": "HP:0004252",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCarpalMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the trapezium An anomaly of trapezium. [{'predicate': 'subClassOf', 'target': 'AbnormalCarpalMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheTrapezoidBone",
"label": "Abnormality of the trapezoid bone",
"logical_definition": null,
"original_id": "HP:0004256",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCarpalMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the trapezoid bone None [{'predicate': 'subClassOf', 'target': 'AbnormalCarpalMorphology'}]"
}
|
{
"aliases": null,
"definition": "Abnormality of the twelfth cranial nerve.",
"id": "AbnormalityOfTheTwelfthCranialNerve",
"label": "Abnormality of the twelfth cranial nerve",
"logical_definition": null,
"original_id": "HP:0010826",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLingualNerveMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the twelfth cranial nerve Abnormality of the twelfth cranial nerve. [{'predicate': 'subClassOf', 'target': 'AbnormalLingualNerveMorphology'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the tympanic membrane",
"id": "AbnormalityOfTheTympanicMembrane",
"label": "Abnormality of the tympanic membrane",
"logical_definition": null,
"original_id": "HP:0040090",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheOuterEar"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMiddleEar"
}
]
}
| 0 |
{
"document": "Abnormality of the tympanic membrane An abnormality of the tympanic membrane [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheOuterEar'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMiddleEar'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.",
"id": "AbnormalityOfTheUmbilicalCord",
"label": "Abnormality of the umbilical cord",
"logical_definition": null,
"original_id": "HP:0010881",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalitiesOfPlacentaOrUmbilicalCord"
}
]
}
| 0 |
{
"document": "Abnormality of the umbilical cord An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. [{'predicate': 'subClassOf', 'target': 'AbnormalitiesOfPlacentaOrUmbilicalCord'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheUpperArm",
"label": "Abnormality of the upper arm",
"logical_definition": null,
"original_id": "HP:0001454",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUpperLimb"
}
]
}
| 0 |
{
"document": "Abnormality of the upper arm None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUpperLimb'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the arm.",
"id": "AbnormalityOfTheUpperLimb",
"label": "Abnormality of the upper limb",
"logical_definition": null,
"original_id": "HP:0002817",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfLimbs"
}
]
}
| 0 |
{
"document": "Abnormality of the upper limb An abnormality of the arm. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLimbs'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the upper respiratory tract.",
"id": "AbnormalityOfTheUpperRespiratoryTract",
"label": "Abnormality of the upper respiratory tract",
"logical_definition": null,
"original_id": "HP:0002087",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratorySystemMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratorySystemMorphology'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the upper urinary tract.",
"id": "AbnormalityOfTheUpperUrinaryTract",
"label": "Abnormality of the upper urinary tract",
"logical_definition": null,
"original_id": "HP:0010935",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUrinarySystem"
}
]
}
| 0 |
{
"document": "Abnormality of the upper urinary tract An abnormality of the upper urinary tract. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUrinarySystem'}]"
}
|
{
"aliases": null,
"definition": "Abnormality of the urachus.",
"id": "AbnormalityOfTheUrachus",
"label": "Abnormality of the urachus",
"logical_definition": null,
"original_id": "HP:0010478",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBladderMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the urachus Abnormality of the urachus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBladderMorphology'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.",
"id": "AbnormalityOfTheUreter",
"label": "Abnormality of the ureter",
"logical_definition": null,
"original_id": "HP:0000069",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUpperUrinaryTract"
}
]
}
| 0 |
{
"document": "Abnormality of the ureter An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUpperUrinaryTract'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.",
"id": "AbnormalityOfTheUrethra",
"label": "Abnormality of the urethra",
"logical_definition": null,
"original_id": "HP:0000795",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheLowerUrinaryTract"
}
]
}
| 0 |
{
"document": "Abnormality of the urethra An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLowerUrinaryTract'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the urinary system.",
"id": "AbnormalityOfTheUrinarySystem",
"label": "Abnormality of the urinary system",
"logical_definition": null,
"original_id": "HP:0000079",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheGenitourinarySystem"
}
]
}
| 0 |
{
"document": "Abnormality of the urinary system An abnormality of the urinary system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheGenitourinarySystem'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheUrinarySystemPhysiology",
"label": "Abnormality of the urinary system physiology",
"logical_definition": null,
"original_id": "HP:0011277",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUrinarySystem"
}
]
}
| 0 |
{
"document": "Abnormality of the urinary system physiology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUrinarySystem'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the uterus.",
"id": "AbnormalityOfTheUterus",
"label": "Abnormality of the uterus",
"logical_definition": null,
"original_id": "HP:0000130",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMorphologyOfFemaleInternalGenitalia"
}
]
}
| 0 |
{
"document": "Abnormality of the uterus An abnormality of the uterus. [{'predicate': 'subClassOf', 'target': 'AbnormalMorphologyOfFemaleInternalGenitalia'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the vasculature.",
"id": "AbnormalityOfTheVasculature",
"label": "Abnormality of the vasculature",
"logical_definition": null,
"original_id": "HP:0002597",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheCardiovascularSystem"
}
]
}
| 0 |
{
"document": "Abnormality of the vasculature An abnormality of the vasculature. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheCardiovascularSystem'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheVasculatureOfTheEye",
"label": "Abnormality of the vasculature of the eye",
"logical_definition": null,
"original_id": "HP:0008047",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheVasculature"
},
{
"predicate": "subClassOf",
"target": "AbnormalEyeMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the vasculature of the eye None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheVasculature'}, {'predicate': 'subClassOf', 'target': 'AbnormalEyeMorphology'}]"
}
|
{
"aliases": null,
"definition": "Any abnormality of the vertebral column.",
"id": "AbnormalityOfTheVertebralColumn",
"label": "Abnormality of the vertebral column",
"logical_definition": null,
"original_id": "HP:0000925",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAxialSkeletonMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the vertebral column Any abnormality of the vertebral column. [{'predicate': 'subClassOf', 'target': 'AbnormalAxialSkeletonMorphology'}]"
}
|
{
"aliases": null,
"definition": "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.",
"id": "AbnormalityOfTheVertebralEndplates",
"label": "Abnormality of the vertebral endplates",
"logical_definition": null,
"original_id": "HP:0005106",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFormOfTheVertebralBodies"
}
]
}
| 0 |
{
"document": "Abnormality of the vertebral endplates Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. [{'predicate': 'subClassOf', 'target': 'AbnormalFormOfTheVertebralBodies'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheVertebralSpinousProcesses",
"label": "Abnormality of the vertebral spinous processes",
"logical_definition": null,
"original_id": "HP:0008516",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFormOfTheVertebralBodies"
}
]
}
| 0 |
{
"document": "Abnormality of the vertebral spinous processes None [{'predicate': 'subClassOf', 'target': 'AbnormalFormOfTheVertebralBodies'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheVestibularNerve",
"label": "Abnormality of the vestibular nerve",
"logical_definition": null,
"original_id": "HP:0011392",
"relationships": [
{
"predicate": "subClassOf",
"target": "MorphologicalAbnormalityOfTheNervesOfTheInnerEar"
}
]
}
| 0 |
{
"document": "Abnormality of the vestibular nerve None [{'predicate': 'subClassOf', 'target': 'MorphologicalAbnormalityOfTheNervesOfTheInnerEar'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheVestibularWindow",
"label": "Abnormality of the vestibular window",
"logical_definition": null,
"original_id": "HP:0040100",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheInnerEar"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMiddleEar"
}
]
}
| 0 |
{
"document": "Abnormality of the vestibular window None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheInnerEar'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMiddleEar'}]"
}
|
{
"aliases": null,
"definition": "Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.",
"id": "AbnormalityOfTheVestibulocochlearNerve",
"label": "Abnormality of the vestibulocochlear nerve",
"logical_definition": null,
"original_id": "HP:0009591",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCranialNerveMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the vestibulocochlear nerve Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing. [{'predicate': 'subClassOf', 'target': 'AbnormalCranialNerveMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheVitaminB3Metabolism",
"label": "Abnormality of the vitamin B3 metabolism",
"logical_definition": null,
"original_id": "HP:0100496",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminBMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of the vitamin B3 metabolism None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminBMetabolism'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTheVoice",
"label": "Abnormality of the voice",
"logical_definition": null,
"original_id": "HP:0001608",
"relationships": [
{
"predicate": "subClassOf",
"target": "PhenotypicAbnormality"
}
]
}
| 0 |
{
"document": "Abnormality of the voice None [{'predicate': 'subClassOf', 'target': 'PhenotypicAbnormality'}]"
}
|
{
"aliases": null,
"definition": "Abnormality of the wrist, the structure connecting the hand and the forearm.",
"id": "AbnormalityOfTheWrist",
"label": "Abnormality of the wrist",
"logical_definition": null,
"original_id": "HP:0003019",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfUpperLimbJoint"
}
]
}
| 0 |
{
"document": "Abnormality of the wrist Abnormality of the wrist, the structure connecting the hand and the forearm. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfUpperLimbJoint'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the xiphoid process of the sternum.",
"id": "AbnormalityOfTheXiphoidProcess",
"label": "Abnormality of the xiphoid process",
"logical_definition": null,
"original_id": "HP:0100892",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSternumMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of the xiphoid process An abnormality of the xiphoid process of the sternum. [{'predicate': 'subClassOf', 'target': 'AbnormalSternumMorphology'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of platelets.",
"id": "AbnormalityOfThrombocytes",
"label": "Abnormality of thrombocytes",
"logical_definition": null,
"original_id": "HP:0001872",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBloodAndBloodFormingTissues"
}
]
}
| 0 |
{
"document": "Abnormality of thrombocytes An abnormality of platelets. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodAndBloodFormingTissues'}]"
}
|
{
"aliases": null,
"definition": "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.",
"id": "AbnormalityOfThumbEpiphysis",
"label": "Abnormality of thumb epiphysis",
"logical_definition": null,
"original_id": "HP:0009599",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalThumbMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalEpiphysisMorphologyOfThePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Abnormality of thumb epiphysis Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. [{'predicate': 'subClassOf', 'target': 'AbnormalThumbMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalEpiphysisMorphologyOfThePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "A structural anomaly of one or more phalanges of the thumb.",
"id": "AbnormalityOfThumbPhalanx",
"label": "Abnormality of thumb phalanx",
"logical_definition": null,
"original_id": "HP:0009602",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalThumbMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of thumb phalanx A structural anomaly of one or more phalanges of the thumb. [{'predicate': 'subClassOf', 'target': 'AbnormalThumbMorphology'}]"
}
|
{
"aliases": null,
"definition": "An abnormal functionality of the thyroid gland.",
"id": "AbnormalityOfThyroidPhysiology",
"label": "Abnormality of thyroid physiology",
"logical_definition": null,
"original_id": "HP:0002926",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheThyroidGland"
}
]
}
| 0 |
{
"document": "Abnormality of thyroid physiology An abnormal functionality of the thyroid gland. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheThyroidGland'}]"
}
|
{
"aliases": null,
"definition": "Abnormality of the tibia (shinbone).",
"id": "AbnormalityOfTibiaMorphology",
"label": "Abnormality of tibia morphology",
"logical_definition": null,
"original_id": "HP:0002992",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheCalf"
},
{
"predicate": "subClassOf",
"target": "AbnormalLowerLimbBoneMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of tibia morphology Abnormality of the tibia (shinbone). [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheCalf'}, {'predicate': 'subClassOf', 'target': 'AbnormalLowerLimbBoneMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfTibialEpiphyses",
"label": "Abnormality of tibial epiphyses",
"logical_definition": null,
"original_id": "HP:0006508",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTibiaMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfLowerLimbEpiphysisMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of tibial epiphyses None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTibiaMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfLowerLimbEpiphysisMorphology'}]"
}
|
{
"aliases": null,
"definition": "A morphological anomaly of one or more proximal phalanges of one or more toes.",
"id": "AbnormalityOfToeProximalPhalanx",
"label": "Abnormality of toe proximal phalanx",
"logical_definition": null,
"original_id": "HP:0010184",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalToePhalanxMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of toe proximal phalanx A morphological anomaly of one or more proximal phalanges of one or more toes. [{'predicate': 'subClassOf', 'target': 'AbnormalToePhalanxMorphology'}]"
}
|
{
"aliases": null,
"definition": "An abnormality in the production or cellular release of tumor necrosis factor.",
"id": "AbnormalityOfTumorNecrosisFactorSecretion",
"label": "Abnormality of tumor necrosis factor secretion",
"logical_definition": null,
"original_id": "HP:0011118",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfCytokineSecretion"
}
]
}
| 0 |
{
"document": "Abnormality of tumor necrosis factor secretion An abnormality in the production or cellular release of tumor necrosis factor. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfCytokineSecretion'}]"
}
|
{
"aliases": null,
"definition": "A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.",
"id": "AbnormalityOfUmbilicalVeinBloodFlow",
"label": "Abnormality of umbilical vein blood flow",
"logical_definition": null,
"original_id": "HP:0010949",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUmbilicalBloodFlowMeasurement"
}
]
}
| 0 |
{
"document": "Abnormality of umbilical vein blood flow A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. [{'predicate': 'subClassOf', 'target': 'AbnormalUmbilicalBloodFlowMeasurement'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfUpperEyelashes",
"label": "Abnormality of upper eyelashes",
"logical_definition": null,
"original_id": "HP:0040051",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEyelashMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of upper eyelashes None [{'predicate': 'subClassOf', 'target': 'AbnormalEyelashMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfUpperLimbEpiphysisMorphology",
"label": "Abnormality of upper limb epiphysis morphology",
"logical_definition": null,
"original_id": "HP:0003839",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUpperLimb"
},
{
"predicate": "subClassOf",
"target": "AbnormalLimbEpiphysisMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of upper limb epiphysis morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUpperLimb'}, {'predicate': 'subClassOf', 'target': 'AbnormalLimbEpiphysisMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfUpperLimbJoint",
"label": "Abnormality of upper limb joint",
"logical_definition": null,
"original_id": "HP:0009810",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalJointMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUpperLimb"
}
]
}
| 0 |
{
"document": "Abnormality of upper limb joint None [{'predicate': 'subClassOf', 'target': 'AbnormalJointMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUpperLimb'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.",
"id": "AbnormalityOfUpperLipVermillion",
"label": "Abnormality of upper lip vermillion",
"logical_definition": null,
"original_id": "HP:0011339",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUpperLipMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. [{'predicate': 'subClassOf', 'target': 'AbnormalUpperLipMorphology'}]"
}
|
{
"aliases": null,
"definition": "Abnormal amount of urate in the urine.",
"id": "AbnormalityOfUrinaryUricAcidLevel",
"label": "Abnormality of urinary uric acid level",
"logical_definition": null,
"original_id": "HP:0012610",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUrineMetaboliteLevel"
}
]
}
| 0 |
{
"document": "Abnormality of urinary uric acid level Abnormal amount of urate in the urine. [{'predicate': 'subClassOf', 'target': 'AbnormalUrineMetaboliteLevel'}]"
}
|
{
"aliases": null,
"definition": "An abnormal amount of hydrogencarbonate in the urine.",
"id": "AbnormalityOfUrineBicarbonateLevel",
"label": "Abnormality of urine bicarbonate level",
"logical_definition": null,
"original_id": "HP:0011279",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUrineMetaboliteLevel"
}
]
}
| 0 |
{
"document": "Abnormality of urine bicarbonate level An abnormal amount of hydrogencarbonate in the urine. [{'predicate': 'subClassOf', 'target': 'AbnormalUrineMetaboliteLevel'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of calcium concentration in the urine.",
"id": "AbnormalityOfUrineCalciumConcentration",
"label": "Abnormality of urine calcium concentration",
"logical_definition": null,
"original_id": "HP:0011280",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUrinaryElectrolyteConcentration"
}
]
}
| 0 |
{
"document": "Abnormality of urine calcium concentration An abnormality of calcium concentration in the urine. [{'predicate': 'subClassOf', 'target': 'AbnormalUrinaryElectrolyteConcentration'}]"
}
|
{
"aliases": null,
"definition": "An abnormal amount of urinary catecholamine concentration.",
"id": "AbnormalityOfUrineCatecholamineLevel",
"label": "Abnormality of urine catecholamine level",
"logical_definition": null,
"original_id": "HP:0011281",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUrineMetaboliteLevel"
}
]
}
| 0 |
{
"document": "Abnormality of urine catecholamine level An abnormal amount of urinary catecholamine concentration. [{'predicate': 'subClassOf', 'target': 'AbnormalUrineMetaboliteLevel'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the composition of urine or the levels of its components.",
"id": "AbnormalityOfUrineHomeostasis",
"label": "Abnormality of urine homeostasis",
"logical_definition": null,
"original_id": "HP:0003110",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMetabolismHomeostasis"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUrinarySystemPhysiology"
}
]
}
| 0 |
{
"document": "Abnormality of urine homeostasis An abnormality of the composition of urine or the levels of its components. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUrinarySystemPhysiology'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the uvular muscle",
"id": "AbnormalityOfUvularMuscle",
"label": "Abnormality of uvular muscle",
"logical_definition": null,
"original_id": "HP:0430017",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUvulaMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfMusculatureOfSoftPalate"
}
]
}
| 0 |
{
"document": "Abnormality of uvular muscle An abnormality of the uvular muscle [{'predicate': 'subClassOf', 'target': 'AbnormalUvulaMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfMusculatureOfSoftPalate'}]"
}
|
{
"aliases": null,
"definition": "An anomaly of venous function.",
"id": "AbnormalityOfVenousPhysiology",
"label": "Abnormality of venous physiology",
"logical_definition": null,
"original_id": "HP:0030846",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVascularPhysiology"
}
]
}
| 0 |
{
"document": "Abnormality of venous physiology An anomaly of venous function. [{'predicate': 'subClassOf', 'target': 'AbnormalVascularPhysiology'}]"
}
|
{
"aliases": null,
"definition": "An anomaly of one or more epiphyses of one or more vertebrae.",
"id": "AbnormalityOfVertebralEpiphysisMorphology",
"label": "Abnormality of vertebral epiphysis morphology",
"logical_definition": null,
"original_id": "HP:0100734",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVertebralMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalEpiphysisMorphology"
}
]
}
| 0 |
{
"document": "Abnormality of vertebral epiphysis morphology An anomaly of one or more epiphyses of one or more vertebrae. [{'predicate': 'subClassOf', 'target': 'AbnormalVertebralMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalEpiphysisMorphology'}]"
}
|
{
"aliases": null,
"definition": "Abnormality of eyesight (visual perception).",
"id": "AbnormalityOfVision",
"label": "Abnormality of vision",
"logical_definition": null,
"original_id": "HP:0000504",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEyePhysiology"
}
]
}
| 0 |
{
"document": "Abnormality of vision Abnormality of eyesight (visual perception). [{'predicate': 'subClassOf', 'target': 'AbnormalEyePhysiology'}]"
}
|
{
"aliases": null,
"definition": "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.",
"id": "AbnormalityOfVisualEvokedPotentials",
"label": "Abnormality of visual evoked potentials",
"logical_definition": null,
"original_id": "HP:0000649",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVisualElectrophysiology"
}
]
}
| 0 |
{
"document": "Abnormality of visual evoked potentials An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. [{'predicate': 'subClassOf', 'target': 'AbnormalVisualElectrophysiology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfVitaminAMetabolism",
"label": "Abnormality of vitamin A metabolism",
"logical_definition": null,
"original_id": "HP:0008372",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin A metabolism None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminMetabolism'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfVitaminB12Metabolism",
"label": "Abnormality of vitamin B12 metabolism",
"logical_definition": null,
"original_id": "HP:0004341",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminBMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin B12 metabolism None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminBMetabolism'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfVitaminBMetabolism",
"label": "Abnormality of vitamin B metabolism",
"logical_definition": null,
"original_id": "HP:0004340",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin B metabolism None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminMetabolism'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfVitaminCMetabolism",
"label": "Abnormality of vitamin C metabolism",
"logical_definition": null,
"original_id": "HP:0100509",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin C metabolism None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminMetabolism'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfVitaminDMetabolism",
"label": "Abnormality of vitamin D metabolism",
"logical_definition": null,
"original_id": "HP:0100511",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin D metabolism None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminMetabolism'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormalityOfVitaminEMetabolism",
"label": "Abnormality of vitamin E metabolism",
"logical_definition": null,
"original_id": "HP:0100514",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin E metabolism None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminMetabolism'}]"
}
|
{
"aliases": null,
"definition": "Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.",
"id": "AbnormalityOfVitaminKMetabolism",
"label": "Abnormality of vitamin K metabolism",
"logical_definition": null,
"original_id": "HP:0100831",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfVitaminMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin K metabolism Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfVitaminMetabolism'}]"
}
|
{
"aliases": null,
"definition": "An anomaly in the metabolism of a vitamin.",
"id": "AbnormalityOfVitaminMetabolism",
"label": "Abnormality of vitamin metabolism",
"logical_definition": null,
"original_id": "HP:0100508",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetabolism"
}
]
}
| 0 |
{
"document": "Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. [{'predicate': 'subClassOf', 'target': 'AbnormalMetabolism'}]"
}
|
{
"aliases": null,
"definition": "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.",
"id": "AbnormalityOfVonWillebrandFactor",
"label": "Abnormality of von Willebrand factor",
"logical_definition": null,
"original_id": "HP:0012146",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheCoagulationCascade"
}
]
}
| 0 |
{
"document": "Abnormality of von Willebrand factor Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheCoagulationCascade'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of a zygomaticus major muscle.",
"id": "AbnormalityOfZygomaticusMajorMuscle",
"label": "Abnormality of zygomaticus major muscle",
"logical_definition": null,
"original_id": "HP:3000018",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCheekMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfMuscleOfFacialExpression"
}
]
}
| 0 |
{
"document": "Abnormality of zygomaticus major muscle An abnormality of a zygomaticus major muscle. [{'predicate': 'subClassOf', 'target': 'AbnormalCheekMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfMuscleOfFacialExpression'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of a zygomaticus minor muscle.",
"id": "AbnormalityOfZygomaticusMinorMuscle",
"label": "Abnormality of zygomaticus minor muscle",
"logical_definition": null,
"original_id": "HP:3000020",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCheekMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfMuscleOfFacialExpression"
}
]
}
| 0 |
{
"document": "Abnormality of zygomaticus minor muscle An abnormality of a zygomaticus minor muscle. [{'predicate': 'subClassOf', 'target': 'AbnormalCheekMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfMuscleOfFacialExpression'}]"
}
|
{
"aliases": null,
"definition": "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.",
"id": "AbnormalityOnPulmonaryFunctionTesting",
"label": "Abnormality on pulmonary function testing",
"logical_definition": null,
"original_id": "HP:0030878",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratorySystemPhysiology"
}
]
}
| 0 |
{
"document": "Abnormality on pulmonary function testing Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratorySystemPhysiology'}]"
}
|
{
"aliases": null,
"definition": "Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.",
"id": "AbnormallyFoldedHelix",
"label": "Abnormally folded helix",
"logical_definition": null,
"original_id": "HP:0008544",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHelixMorphology"
}
]
}
| 0 |
{
"document": "Abnormally folded helix Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. [{'predicate': 'subClassOf', 'target': 'AbnormalHelixMorphology'}]"
}
|
{
"aliases": null,
"definition": "Diffusely large eye (with megalocornea) without glaucoma.",
"id": "AbnormallyLargeGlobe",
"label": "Abnormally large globe",
"logical_definition": null,
"original_id": "HP:0001090",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfGlobeSize"
}
]
}
| 0 |
{
"document": "Abnormally large globe Diffusely large eye (with megalocornea) without glaucoma. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfGlobeSize'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormallyLaxOrHyperextensibleSkin",
"label": "Abnormally lax or hyperextensible skin",
"logical_definition": null,
"original_id": "HP:0008067",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalElasticityOfSkin"
}
]
}
| 0 |
{
"document": "Abnormally lax or hyperextensible skin None [{'predicate': 'subClassOf', 'target': 'AbnormalElasticityOfSkin'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormallyLoudPulmonicComponentOfTheSecondHeartSound",
"label": "Abnormally loud pulmonic component of the second heart sound",
"logical_definition": null,
"original_id": "HP:0031687",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSecondHeartSound"
}
]
}
| 0 |
{
"document": "Abnormally loud pulmonic component of the second heart sound None [{'predicate': 'subClassOf', 'target': 'AbnormalSecondHeartSound'}]"
}
|
{
"aliases": null,
"definition": "An abnormal decrease in the pitch of the voice.",
"id": "AbnormallyLowPitchedVoice",
"label": "Abnormally low-pitched voice",
"logical_definition": null,
"original_id": "HP:0010300",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPitch"
}
]
}
| 0 |
{
"document": "Abnormally low-pitched voice An abnormal decrease in the pitch of the voice. [{'predicate': 'subClassOf', 'target': 'AbnormalPitch'}]"
}
|
{
"aliases": null,
"definition": "Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.",
"id": "AbnormallyLowTCellReceptorExcisionCircleLevel",
"label": "Abnormally low T cell receptor excision circle level",
"logical_definition": null,
"original_id": "HP:0031545",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTCellCount"
}
]
}
| 0 |
{
"document": "Abnormally low T cell receptor excision circle level Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. [{'predicate': 'subClassOf', 'target': 'AbnormalTCellCount'}]"
}
|
{
"aliases": null,
"definition": "An abnormality of the formation and mineralization of one or more vertebrae.",
"id": "AbnormallyOssifiedVertebrae",
"label": "Abnormally ossified vertebrae",
"logical_definition": null,
"original_id": "HP:0100569",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEnchondralOssification"
},
{
"predicate": "subClassOf",
"target": "AbnormalVertebralMorphology"
}
]
}
| 0 |
{
"document": "Abnormally ossified vertebrae An abnormality of the formation and mineralization of one or more vertebrae. [{'predicate': 'subClassOf', 'target': 'AbnormalEnchondralOssification'}, {'predicate': 'subClassOf', 'target': 'AbnormalVertebralMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormallyProminentLineOfSchwalbe",
"label": "Abnormally prominent line of Schwalbe",
"logical_definition": null,
"original_id": "HP:0007873",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLineOfSchwalbeMorphology"
}
]
}
| 0 |
{
"document": "Abnormally prominent line of Schwalbe None [{'predicate': 'subClassOf', 'target': 'AbnormalLineOfSchwalbeMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbnormallyShapedCarpalBones",
"label": "Abnormally shaped carpal bones",
"logical_definition": null,
"original_id": "HP:0006014",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCarpalMorphology"
}
]
}
| 0 |
{
"document": "Abnormally shaped carpal bones None [{'predicate': 'subClassOf', 'target': 'AbnormalCarpalMorphology'}]"
}
|
{
"aliases": null,
"definition": "The absence of the normal curvature of the vertebral column.",
"id": "AbnormallyStraightSpine",
"label": "Abnormally straight spine",
"logical_definition": null,
"original_id": "HP:0100795",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCurvatureOfTheVertebralColumn"
}
]
}
| 0 |
{
"document": "Abnormally straight spine The absence of the normal curvature of the vertebral column. [{'predicate': 'subClassOf', 'target': 'AbnormalCurvatureOfTheVertebralColumn'}]"
}
|
{
"aliases": null,
"definition": "A complete loss of the ability to perceive vibration.",
"id": "AbolishedVibrationSense",
"label": "Abolished vibration sense",
"logical_definition": null,
"original_id": "HP:0006944",
"relationships": [
{
"predicate": "subClassOf",
"target": "ImpairedVibratorySensation"
}
]
}
| 0 |
{
"document": "Abolished vibration sense A complete loss of the ability to perceive vibration. [{'predicate': 'subClassOf', 'target': 'ImpairedVibratorySensation'}]"
}
|
{
"aliases": null,
"definition": "Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.",
"id": "AbortedSuddenCardiacDeath",
"label": "Aborted sudden cardiac death",
"logical_definition": null,
"original_id": "HP:0031628",
"relationships": [
{
"predicate": "subClassOf",
"target": "CardiacArrest"
}
]
}
| 0 |
{
"document": "Aborted sudden cardiac death Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. [{'predicate': 'subClassOf', 'target': 'CardiacArrest'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "Abscess",
"label": "Abscess",
"logical_definition": null,
"original_id": "HP:0025615",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalImmuneSystemMorphology"
}
]
}
| 0 |
{
"document": "Abscess None [{'predicate': 'subClassOf', 'target': 'AbnormalImmuneSystemMorphology'}]"
}
|
{
"aliases": null,
"definition": "A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation.",
"id": "Abscess_MPATH:608",
"label": "abscess",
"logical_definition": null,
"original_id": "MPATH:608",
"relationships": [
{
"predicate": "subClassOf",
"target": "HealingAndRepairStructure"
}
]
}
| 0 |
{
"document": "abscess A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. [{'predicate': 'subClassOf', 'target': 'HealingAndRepairStructure'}]"
}
|
{
"aliases": null,
"definition": "Absence due to a degenerative process.",
"id": "AbsenceDueToDegeneration",
"label": "absence due to degeneration",
"logical_definition": null,
"original_id": "PATO:0015001",
"relationships": [
{
"predicate": "subClassOf",
"target": "Degenerate"
},
{
"predicate": "subClassOf",
"target": "AbsenceOfAnatomicalEntity"
}
]
}
| 0 |
{
"document": "absence due to degeneration Absence due to a degenerative process. [{'predicate': 'subClassOf', 'target': 'Degenerate'}, {'predicate': 'subClassOf', 'target': 'AbsenceOfAnatomicalEntity'}]"
}
|
{
"aliases": null,
"definition": "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.",
"id": "AbsenceOfAcousticReflex",
"label": "Absence of acoustic reflex",
"logical_definition": null,
"original_id": "HP:0008529",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheAcousticReflex"
}
]
}
| 0 |
{
"document": "Absence of acoustic reflex Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheAcousticReflex'}]"
}
|
{
"aliases": null,
"definition": "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.",
"id": "AbsenceOfAlphaGranules",
"label": "Absence of alpha granules",
"logical_definition": null,
"original_id": "HP:0012526",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNumberOfAlphaGranules"
}
]
}
| 0 |
{
"document": "Absence of alpha granules A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. [{'predicate': 'subClassOf', 'target': 'AbnormalNumberOfAlphaGranules'}]"
}
|
{
"aliases": null,
"definition": "A quality denoting the lack of an anatomical entity or cellular component.",
"id": "AbsenceOfAnatomicalEntity",
"label": "absence of anatomical entity",
"logical_definition": null,
"original_id": "PATO:0040060",
"relationships": [
{
"predicate": "subClassOf",
"target": "Morphology"
},
{
"predicate": "subClassOf",
"target": "AbsenceOfPhysicalObject"
}
]
}
| 0 |
{
"document": "absence of anatomical entity A quality denoting the lack of an anatomical entity or cellular component. [{'predicate': 'subClassOf', 'target': 'Morphology'}, {'predicate': 'subClassOf', 'target': 'AbsenceOfPhysicalObject'}]"
}
|
{
"aliases": null,
"definition": "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.",
"id": "AbsenceOfBactericidalOxidativeRespiratoryBurstInPhagocytes",
"label": "Absence of bactericidal oxidative respiratory burst in phagocytes",
"logical_definition": null,
"original_id": "HP:0002723",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPhagocytosis"
}
]
}
| 0 |
{
"document": "Absence of bactericidal oxidative respiratory burst in phagocytes An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. [{'predicate': 'subClassOf', 'target': 'AbnormalPhagocytosis'}]"
}
|
{
"aliases": null,
"definition": "Lack of CD4+CD25+ T regulatory cells.",
"id": "AbsenceOfCD4Positive_CD25PositiveRegulatoryTCells",
"label": "Absence of CD4-positive, CD25-positive regulatory T cells",
"logical_definition": null,
"original_id": "HP:0030336",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCD4Positive_CD25Positive_alphaBetaRegulatoryTCellCount"
}
]
}
| 0 |
{
"document": "Absence of CD4-positive, CD25-positive regulatory T cells Lack of CD4+CD25+ T regulatory cells. [{'predicate': 'subClassOf', 'target': 'AbnormalCD4Positive_CD25Positive_alphaBetaRegulatoryTCellCount'}]"
}
|
{
"aliases": null,
"definition": "Lack of detectible CD8-positive T cells",
"id": "AbsenceOfCD8PositiveTCells",
"label": "Absence of CD8-positive T cells",
"logical_definition": null,
"original_id": "HP:0005422",
"relationships": [
{
"predicate": "subClassOf",
"target": "DecreasedProportionOfCD8PositiveTCells"
}
]
}
| 0 |
{
"document": "Absence of CD8-positive T cells Lack of detectible CD8-positive T cells [{'predicate': 'subClassOf', 'target': 'DecreasedProportionOfCD8PositiveTCells'}]"
}
|
{
"aliases": null,
"definition": "The absence of ganglioside GM3.",
"id": "AbsenceOfGangliosideGM3",
"label": "Absence of ganglioside GM3",
"logical_definition": null,
"original_id": "HP:0410370",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGlycosphingolipidMetabolism"
}
]
}
| 0 |
{
"document": "Absence of ganglioside GM3 The absence of ganglioside GM3. [{'predicate': 'subClassOf', 'target': 'AbnormalGlycosphingolipidMetabolism'}]"
}
|
{
"aliases": null,
"definition": "Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.",
"id": "AbsenceOfIntermediateVonWillebrandFactorMultimers",
"label": "Absence of intermediate von Willebrand factor multimers",
"logical_definition": null,
"original_id": "HP:0030135",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVonWillebrandFactorMultimerDistribution"
}
]
}
| 0 |
{
"document": "Absence of intermediate von Willebrand factor multimers Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. [{'predicate': 'subClassOf', 'target': 'AbnormalVonWillebrandFactorMultimerDistribution'}]"
}
|
{
"aliases": null,
"definition": "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.",
"id": "AbsenceOfIntrinsicFactor",
"label": "Absence of intrinsic factor",
"logical_definition": null,
"original_id": "HP:0005219",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalStomachMorphology"
}
]
}
| 0 |
{
"document": "Absence of intrinsic factor Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. [{'predicate': 'subClassOf', 'target': 'AbnormalStomachMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsenceOfLabiaMajora",
"label": "Absence of labia majora",
"logical_definition": null,
"original_id": "HP:0008729",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLabiaMajoraMorphology"
}
]
}
| 0 |
{
"document": "Absence of labia majora None [{'predicate': 'subClassOf', 'target': 'AbnormalLabiaMajoraMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of large von Willebrand Factor multimers on gel electrophoresis.",
"id": "AbsenceOfLargeVonWillebrandFactorMultimers",
"label": "Absence of large von Willebrand factor multimers",
"logical_definition": null,
"original_id": "HP:0030132",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVonWillebrandFactorMultimerDistribution"
}
]
}
| 0 |
{
"document": "Absence of large von Willebrand factor multimers Absence of large von Willebrand Factor multimers on gel electrophoresis. [{'predicate': 'subClassOf', 'target': 'AbnormalVonWillebrandFactorMultimerDistribution'}]"
}
|
{
"aliases": null,
"definition": "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.",
"id": "AbsenceOfLutheranAntigenOnErythrocytes",
"label": "Absence of Lutheran antigen on erythrocytes",
"logical_definition": null,
"original_id": "HP:0010971",
"relationships": [
{
"predicate": "subClassOf",
"target": "BloodGroupAntigenAbnormality"
}
]
}
| 0 |
{
"document": "Absence of Lutheran antigen on erythrocytes Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. [{'predicate': 'subClassOf', 'target': 'BloodGroupAntigenAbnormality'}]"
}
|
{
"aliases": null,
"definition": "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.",
"id": "AbsenceOfLymphNodeGerminalCenter",
"label": "Absence of lymph node germinal center",
"logical_definition": null,
"original_id": "HP:0002849",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphNodeMorphology"
}
]
}
| 0 |
{
"document": "Absence of lymph node germinal center Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphNodeMorphology'}]"
}
|
{
"aliases": null,
"definition": "Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.",
"id": "AbsenceOfMemoryBCells",
"label": "Absence of memory B cells",
"logical_definition": null,
"original_id": "HP:0030251",
"relationships": [
{
"predicate": "subClassOf",
"target": "BLymphocytopenia"
}
]
}
| 0 |
{
"document": "Absence of memory B cells Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. [{'predicate': 'subClassOf', 'target': 'BLymphocytopenia'}]"
}
|
{
"aliases": null,
"definition": "Aplasia (congenital absence) of the pectoralis minor.",
"id": "AbsenceOfPectoralisMinorMuscle",
"label": "Absence of pectoralis minor muscle",
"logical_definition": null,
"original_id": "HP:0005255",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPectoralMuscleMorphology"
}
]
}
| 0 |
{
"document": "Absence of pectoralis minor muscle Aplasia (congenital absence) of the pectoralis minor. [{'predicate': 'subClassOf', 'target': 'AbnormalPectoralMuscleMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.",
"id": "AbsenceOfPeroxisomes",
"label": "Absence of peroxisomes",
"logical_definition": null,
"original_id": "HP:0034553",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPeroxisomalMorphology"
}
]
}
| 0 |
{
"document": "Absence of peroxisomes Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy. [{'predicate': 'subClassOf', 'target': 'AbnormalPeroxisomalMorphology'}]"
}
|
{
"aliases": null,
"definition": "A quality denoting the lack of a physical entity or object, such as a chemical.",
"id": "AbsenceOfPhysicalObject",
"label": "absence of physical object",
"logical_definition": null,
"original_id": "PATO:0040058",
"relationships": [
{
"predicate": "subClassOf",
"target": "PhysicalObjectQuality"
}
]
}
| 0 |
{
"document": "absence of physical object A quality denoting the lack of a physical entity or object, such as a chemical. [{'predicate': 'subClassOf', 'target': 'PhysicalObjectQuality'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsenceOfPubertalDevelopment",
"label": "Absence of pubertal development",
"logical_definition": null,
"original_id": "HP:0008197",
"relationships": [
{
"predicate": "subClassOf",
"target": "PubertyAndGonadalDisorders"
}
]
}
| 0 |
{
"document": "Absence of pubertal development None [{'predicate': 'subClassOf', 'target': 'PubertyAndGonadalDisorders'}]"
}
|
{
"aliases": null,
"definition": "A lack of differentiation between renal cortex and medulla on diagnostic imaging.",
"id": "AbsenceOfRenalCorticomedullaryDifferentiation",
"label": "Absence of renal corticomedullary differentiation",
"logical_definition": null,
"original_id": "HP:0005564",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRenalCorticomedullaryDifferentiation"
}
]
}
| 0 |
{
"document": "Absence of renal corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. [{'predicate': 'subClassOf', 'target': 'AbnormalRenalCorticomedullaryDifferentiation'}]"
}
|
{
"aliases": null,
"definition": "No secondary sexual characteristics are present at puberty.",
"id": "AbsenceOfSecondarySexCharacteristics",
"label": "Absence of secondary sex characteristics",
"logical_definition": null,
"original_id": "HP:0008187",
"relationships": [
{
"predicate": "subClassOf",
"target": "PubertyAndGonadalDisorders"
}
]
}
| 0 |
{
"document": "Absence of secondary sex characteristics No secondary sexual characteristics are present at puberty. [{'predicate': 'subClassOf', 'target': 'PubertyAndGonadalDisorders'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsenceOfStensenDuct",
"label": "Absence of Stensen duct",
"logical_definition": null,
"original_id": "HP:0000198",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalParotidGlandMorphology"
}
]
}
| 0 |
{
"document": "Absence of Stensen duct None [{'predicate': 'subClassOf', 'target': 'AbnormalParotidGlandMorphology'}]"
}
|
{
"aliases": null,
"definition": "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.",
"id": "AbsenceOfStomachBubbleOnFetalSonography",
"label": "Absence of stomach bubble on fetal sonography",
"logical_definition": null,
"original_id": "HP:0010963",
"relationships": [
{
"predicate": "subClassOf",
"target": "FetalUltrasoundSoftMarker"
},
{
"predicate": "subClassOf",
"target": "AbnormalFetalGastrointestinalSystemMorphology"
}
]
}
| 0 |
{
"document": "Absence of stomach bubble on fetal sonography By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. [{'predicate': 'subClassOf', 'target': 'FetalUltrasoundSoftMarker'}, {'predicate': 'subClassOf', 'target': 'AbnormalFetalGastrointestinalSystemMorphology'}]"
}
|
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