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{
"aliases": null,
"definition": null,
"id": "AbnormalLowerLimbBoneMorphology",
"label": "Abnormal lower limb bone morphology",
"logical_definition": null,
"original_id": "HP:0040069",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfLimbBoneMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheLowerLimb"
}
]
} | 0 | {
"document": "Abnormal lower limb bone morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLimbBoneMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLowerLimb'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalLowerLimbMetaphysisMorphology",
"label": "Abnormal lower-limb metaphysis morphology",
"logical_definition": null,
"original_id": "HP:0006490",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetaphysisMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheLowerLimb"
}
]
} | 0 | {
"document": "Abnormal lower-limb metaphysis morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalMetaphysisMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLowerLimb'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the lower lip.",
"id": "AbnormalLowerLipMorphology",
"label": "Abnormal lower lip morphology",
"logical_definition": null,
"original_id": "HP:0000178",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLipMorphology"
}
]
} | 0 | {
"document": "Abnormal lower lip morphology An abnormality of the lower lip. [{'predicate': 'subClassOf', 'target': 'AbnormalLipMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural abnormality of the lumbar vertebral column.",
"id": "AbnormalLumbarSpineMorphology",
"label": "Abnormal lumbar spine morphology",
"logical_definition": null,
"original_id": "HP:0100712",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheVertebralColumn"
}
]
} | 0 | {
"document": "Abnormal lumbar spine morphology Any structural abnormality of the lumbar vertebral column. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheVertebralColumn'}]"
} |
{
"aliases": null,
"definition": "A structural defect associated with abnormal development of the lung.",
"id": "AbnormalLungDevelopment",
"label": "Abnormal lung development",
"logical_definition": null,
"original_id": "HP:4000059",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLungMorphology"
}
]
} | 0 | {
"document": "Abnormal lung development A structural defect associated with abnormal development of the lung. [{'predicate': 'subClassOf', 'target': 'AbnormalLungMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the lung.",
"id": "AbnormalLungMorphology",
"label": "Abnormal lung morphology",
"logical_definition": null,
"original_id": "HP:0002088",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratorySystemMorphology"
}
]
} | 0 | {
"document": "Abnormal lung morphology Any structural anomaly of the lung. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratorySystemMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural lymph node abnormality.",
"id": "AbnormalLymphNodeMorphology",
"label": "Abnormal lymph node morphology",
"logical_definition": null,
"original_id": "HP:0002733",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheLymphaticSystem"
}
]
} | 0 | {
"document": "Abnormal lymph node morphology A structural lymph node abnormality. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLymphaticSystem'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the vessel that contains or conveys lymph fluid.",
"id": "AbnormalLymphaticVesselMorphology",
"label": "Abnormal lymphatic vessel morphology",
"logical_definition": null,
"original_id": "HP:0100766",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVascularMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheLymphaticSystem"
}
]
} | 0 | {
"document": "Abnormal lymphatic vessel morphology A structural anomaly of the vessel that contains or conveys lymph fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalVascularMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheLymphaticSystem'}]"
} |
{
"aliases": null,
"definition": "Any abnormality in the total number of lymphocytes in the blood.",
"id": "AbnormalLymphocyteCount",
"label": "Abnormal lymphocyte count",
"logical_definition": null,
"original_id": "HP:0040088",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphocyteMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLeukocyteCount"
}
]
} | 0 | {
"document": "Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteCount'}]"
} |
{
"aliases": null,
"definition": "An abnormality of lymphocytes.",
"id": "AbnormalLymphocyteMorphology",
"label": "Abnormal lymphocyte morphology",
"logical_definition": null,
"original_id": "HP:0004332",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLeukocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal lymphocyte morphology An abnormality of lymphocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Any anomaly of lymphocyte function.",
"id": "AbnormalLymphocytePhysiology",
"label": "Abnormal lymphocyte physiology",
"logical_definition": null,
"original_id": "HP:0031409",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCellularPhysiology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLeukocytePhysiology"
}
]
} | 0 | {
"document": "Abnormal lymphocyte physiology Any anomaly of lymphocyte function. [{'predicate': 'subClassOf', 'target': 'AbnormalCellularPhysiology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLeukocytePhysiology'}]"
} |
{
"aliases": null,
"definition": "An anomaly in the number of macrophages.",
"id": "AbnormalMacrophageCount",
"label": "Abnormal macrophage count",
"logical_definition": null,
"original_id": "HP:0030326",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMacrophageMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLeukocyteCount"
}
]
} | 0 | {
"document": "Abnormal macrophage count An anomaly in the number of macrophages. [{'predicate': 'subClassOf', 'target': 'AbnormalMacrophageMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteCount'}]"
} |
{
"aliases": null,
"definition": "An abnormality of macrophages.",
"id": "AbnormalMacrophageMorphology",
"label": "Abnormal macrophage morphology",
"logical_definition": null,
"original_id": "HP:0004311",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMyeloidLeukocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal macrophage morphology An abnormality of macrophages. [{'predicate': 'subClassOf', 'target': 'AbnormalMyeloidLeukocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of magnesium ion homeostasis.",
"id": "AbnormalMagnesiumConcentration",
"label": "Abnormal magnesium concentration",
"logical_definition": null,
"original_id": "HP:0004921",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBloodInorganicCationConcentration"
}
]
} | 0 | {
"document": "Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodInorganicCationConcentration'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of a male reproductive cell.",
"id": "AbnormalMaleGermCellMorphology",
"label": "Abnormal male germ cell morphology",
"logical_definition": null,
"original_id": "HP:0012863",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGermCellMorphology"
}
]
} | 0 | {
"document": "Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. [{'predicate': 'subClassOf', 'target': 'AbnormalGermCellMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the male internal genitalia.",
"id": "AbnormalMaleInternalGenitaliaMorphology",
"label": "Abnormal male internal genitalia morphology",
"logical_definition": null,
"original_id": "HP:0000022",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalInternalGenitalia"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMaleGenitalia"
}
]
} | 0 | {
"document": "Abnormal male internal genitalia morphology An abnormality of the male internal genitalia. [{'predicate': 'subClassOf', 'target': 'AbnormalInternalGenitalia'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMaleGenitalia'}]"
} |
{
"aliases": null,
"definition": "An abnormal functionality of the male genital system.",
"id": "AbnormalMaleReproductiveSystemPhysiology",
"label": "Abnormal male reproductive system physiology",
"logical_definition": null,
"original_id": "HP:0012874",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfReproductiveSystemPhysiology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMaleGenitalia"
}
]
} | 0 | {
"document": "Abnormal male reproductive system physiology An abnormal functionality of the male genital system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfReproductiveSystemPhysiology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMaleGenitalia'}]"
} |
{
"aliases": null,
"definition": "A structural abnormality of a mandibular symphysis.",
"id": "AbnormalMandibularSymphysisMorphology",
"label": "Abnormal mandibular symphysis morphology",
"logical_definition": null,
"original_id": "HP:3000079",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalJointMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalOralMorphology"
}
]
} | 0 | {
"document": "Abnormal mandibular symphysis morphology A structural abnormality of a mandibular symphysis. [{'predicate': 'subClassOf', 'target': 'AbnormalJointMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalOralMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.",
"id": "AbnormalMastCellMorphology",
"label": "Abnormal mast cell morphology",
"logical_definition": null,
"original_id": "HP:0100494",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGranulocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal mast cell morphology Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. [{'predicate': 'subClassOf', 'target': 'AbnormalGranulocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the central compartment of the thoracic cavity.",
"id": "AbnormalMediastinumMorphology",
"label": "Abnormal mediastinum morphology",
"logical_definition": null,
"original_id": "HP:0045026",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheThoracicCavity"
}
]
} | 0 | {
"document": "Abnormal mediastinum morphology Any structural anomaly of the central compartment of the thoracic cavity. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheThoracicCavity'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the medulla oblongata, the lower half of the brainstem.",
"id": "AbnormalMedullaOblongataMorphology",
"label": "Abnormal medulla oblongata morphology",
"logical_definition": null,
"original_id": "HP:0011441",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBrainstemMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalHindbrainMorphology"
}
]
} | 0 | {
"document": "Abnormal medulla oblongata morphology An abnormality of the medulla oblongata, the lower half of the brainstem. [{'predicate': 'subClassOf', 'target': 'AbnormalBrainstemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHindbrainMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.",
"id": "AbnormalMegakaryocyteMorphology",
"label": "Abnormal megakaryocyte morphology",
"logical_definition": null,
"original_id": "HP:0012143",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBoneMarrowCellMorphology"
}
]
} | 0 | {
"document": "Abnormal megakaryocyte morphology Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBoneMarrowCellMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.",
"id": "AbnormalMeningealMorphology",
"label": "Abnormal meningeal morphology",
"logical_definition": null,
"original_id": "HP:0010651",
"relationships": [
{
"predicate": "subClassOf",
"target": "MorphologicalCentralNervousSystemAbnormality"
}
]
} | 0 | {
"document": "Abnormal meningeal morphology An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. [{'predicate': 'subClassOf', 'target': 'MorphologicalCentralNervousSystemAbnormality'}]"
} |
{
"aliases": null,
"definition": "An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.",
"id": "AbnormalMetabolism",
"label": "Abnormal metabolism",
"logical_definition": null,
"original_id": "HP:0032245",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMetabolismHomeostasis"
}
]
} | 0 | {
"document": "Abnormal metabolism An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMetabolismHomeostasis'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalMetacarpalEpiphysisMorphology",
"label": "Abnormal metacarpal epiphysis morphology",
"logical_definition": null,
"original_id": "HP:0005913",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetacarpalMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalHandEpiphysisMorphology"
}
]
} | 0 | {
"document": "Abnormal metacarpal epiphysis morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalMetacarpalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalHandEpiphysisMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormal shape or structure of the metacarpal bones.",
"id": "AbnormalMetacarpalMorphology",
"label": "Abnormal metacarpal morphology",
"logical_definition": null,
"original_id": "HP:0005916",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHandMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalUpperLimbBoneMorphology"
}
]
} | 0 | {
"document": "Abnormal metacarpal morphology Any abnormal shape or structure of the metacarpal bones. [{'predicate': 'subClassOf', 'target': 'AbnormalHandMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalUpperLimbBoneMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of a metacarpophalangeal joint.",
"id": "AbnormalMetacarpophalangealJointMorphology",
"label": "Abnormal metacarpophalangeal joint morphology",
"logical_definition": null,
"original_id": "HP:0011911",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalJointMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalMetacarpalMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalDigitMorphology"
}
]
} | 0 | {
"document": "Abnormal metacarpophalangeal joint morphology An anomaly of a metacarpophalangeal joint. [{'predicate': 'subClassOf', 'target': 'AbnormalJointMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMetacarpalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalDigitMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.",
"id": "AbnormalMetaphysisMorphology",
"label": "Abnormal metaphysis morphology",
"logical_definition": null,
"original_id": "HP:0000944",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfLimbBoneMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLongBoneMorphology"
}
]
} | 0 | {
"document": "Abnormal metaphysis morphology An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLimbBoneMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLongBoneMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of a metatarsal bone epiphysis.",
"id": "AbnormalMetatarsalEpiphysisMorphology",
"label": "Abnormal metatarsal epiphysis morphology",
"logical_definition": null,
"original_id": "HP:0010630",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetatarsalMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfTheFeet"
}
]
} | 0 | {
"document": "Abnormal metatarsal epiphysis morphology Any abnormality of a metatarsal bone epiphysis. [{'predicate': 'subClassOf', 'target': 'AbnormalMetatarsalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfTheFeet'}]"
} |
{
"aliases": null,
"definition": "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).",
"id": "AbnormalMetatarsalMorphology",
"label": "Abnormal metatarsal morphology",
"logical_definition": null,
"original_id": "HP:0001832",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFootMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLongBoneMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLowerLimbBoneMorphology"
}
]
} | 0 | {
"document": "Abnormal metatarsal morphology Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). [{'predicate': 'subClassOf', 'target': 'AbnormalFootMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLongBoneMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLowerLimbBoneMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.",
"id": "AbnormalMetatarsalOssification",
"label": "Abnormal metatarsal ossification",
"logical_definition": null,
"original_id": "HP:0008371",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetatarsalMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFootBoneOssification"
}
]
} | 0 | {
"document": "Abnormal metatarsal ossification Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. [{'predicate': 'subClassOf', 'target': 'AbnormalMetatarsalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFootBoneOssification'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.",
"id": "AbnormalMetencephalonMorphology",
"label": "Abnormal metencephalon morphology",
"logical_definition": null,
"original_id": "HP:0011283",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHindbrainMorphology"
}
]
} | 0 | {
"document": "Abnormal metencephalon morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. [{'predicate': 'subClassOf', 'target': 'AbnormalHindbrainMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.",
"id": "AbnormalMidbrainMorphology",
"label": "Abnormal midbrain morphology",
"logical_definition": null,
"original_id": "HP:0002418",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBrainMorphology"
}
]
} | 0 | {
"document": "Abnormal midbrain morphology An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBrainMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of middle phalanx of finger.",
"id": "AbnormalMiddlePhalanxMorphologyOfTheHand",
"label": "Abnormal middle phalanx morphology of the hand",
"logical_definition": null,
"original_id": "HP:0009833",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFingerPhalanxMorphology"
}
]
} | 0 | {
"document": "Abnormal middle phalanx morphology of the hand An anomaly of middle phalanx of finger. [{'predicate': 'subClassOf', 'target': 'AbnormalFingerPhalanxMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.",
"id": "AbnormalMidfaceMorphology",
"label": "Abnormal midface morphology",
"logical_definition": null,
"original_id": "HP:0000309",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheFace"
}
]
} | 0 | {
"document": "Abnormal midface morphology An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheFace'}]"
} |
{
"aliases": null,
"definition": "Abnormal migration of corneal endothelium.",
"id": "AbnormalMigrationOfCornealEndothelium",
"label": "Abnormal migration of corneal endothelium",
"logical_definition": null,
"original_id": "HP:0011489",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCornealEndotheliumMorphology"
}
]
} | 0 | {
"document": "Abnormal migration of corneal endothelium Abnormal migration of corneal endothelium. [{'predicate': 'subClassOf', 'target': 'AbnormalCornealEndotheliumMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the mitochondria in muscle tissue.",
"id": "AbnormalMitochondriaInMuscleTissue",
"label": "Abnormal mitochondria in muscle tissue",
"logical_definition": null,
"original_id": "HP:0008316",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfMitochondrialMetabolism"
},
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
}
]
} | 0 | {
"document": "Abnormal mitochondria in muscle tissue An abnormality of the mitochondria in muscle tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfMitochondrialMetabolism'}, {'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the mitochondria.",
"id": "AbnormalMitochondrialMorphology",
"label": "Abnormal mitochondrial morphology",
"logical_definition": null,
"original_id": "HP:0008322",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMitochondrion"
}
]
} | 0 | {
"document": "Abnormal mitochondrial morphology Any structural anomaly of the mitochondria. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMitochondrion'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal number of mitochondria per cell.",
"id": "AbnormalMitochondrialNumber",
"label": "Abnormal mitochondrial number",
"logical_definition": null,
"original_id": "HP:0012102",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMitochondrialMorphology"
}
]
} | 0 | {
"document": "Abnormal mitochondrial number A deviation from the normal number of mitochondria per cell. [{'predicate': 'subClassOf', 'target': 'AbnormalMitochondrialMorphology'}]"
} |
{
"aliases": null,
"definition": "An anomaly in the surface contour of mitochondria.",
"id": "AbnormalMitochondrialShape",
"label": "Abnormal mitochondrial shape",
"logical_definition": null,
"original_id": "HP:0012087",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMitochondrialMorphology"
}
]
} | 0 | {
"document": "Abnormal mitochondrial shape An anomaly in the surface contour of mitochondria. [{'predicate': 'subClassOf', 'target': 'AbnormalMitochondrialMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the mitral valve.",
"id": "AbnormalMitralValveMorphology",
"label": "Abnormal mitral valve morphology",
"logical_definition": null,
"original_id": "HP:0001633",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAtrioventricularValveMorphology"
}
]
} | 0 | {
"document": "Abnormal mitral valve morphology Any structural anomaly of the mitral valve. [{'predicate': 'subClassOf', 'target': 'AbnormalAtrioventricularValveMorphology'}]"
} |
{
"aliases": null,
"definition": "Any functional anomaly of the mitral valve.",
"id": "AbnormalMitralValvePhysiology",
"label": "Abnormal mitral valve physiology",
"logical_definition": null,
"original_id": "HP:0031481",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAtrioventricularValvePhysiology"
}
]
} | 0 | {
"document": "Abnormal mitral valve physiology Any functional anomaly of the mitral valve. [{'predicate': 'subClassOf', 'target': 'AbnormalAtrioventricularValvePhysiology'}]"
} |
{
"aliases": null,
"definition": "An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.",
"id": "AbnormalMonocyteCount",
"label": "Abnormal monocyte count",
"logical_definition": null,
"original_id": "HP:0012310",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLeukocyteCount"
},
{
"predicate": "subClassOf",
"target": "AbnormalMonocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal monocyte count An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. [{'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteCount'}, {'predicate': 'subClassOf', 'target': 'AbnormalMonocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.",
"id": "AbnormalMonocyteMorphology",
"label": "Abnormal monocyte morphology",
"logical_definition": null,
"original_id": "HP:0012144",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMyeloidLeukocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal monocyte morphology Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. [{'predicate': 'subClassOf', 'target': 'AbnormalMyeloidLeukocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of an orbit of skull.",
"id": "AbnormalMorphologyOfBonyOrbitOfSkull",
"label": "Abnormal morphology of bony orbit of skull",
"logical_definition": null,
"original_id": "HP:3000030",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheOrbitalRegion"
},
{
"predicate": "subClassOf",
"target": "AbnormalFacialSkeletonMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of bony orbit of skull An abnormality of an orbit of skull. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheOrbitalRegion'}, {'predicate': 'subClassOf', 'target': 'AbnormalFacialSkeletonMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal form of the progenitor cells committed to the erythroid lineage.",
"id": "AbnormalMorphologyOfErythroidProgenitorCell",
"label": "Abnormal morphology of erythroid progenitor cell",
"logical_definition": null,
"original_id": "HP:0025034",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalErythroidLineageCellMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of erythroid progenitor cell Abnormal form of the progenitor cells committed to the erythroid lineage. [{'predicate': 'subClassOf', 'target': 'AbnormalErythroidLineageCellMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the female internal genitalia.",
"id": "AbnormalMorphologyOfFemaleInternalGenitalia",
"label": "Abnormal morphology of female internal genitalia",
"logical_definition": null,
"original_id": "HP:0000008",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalInternalGenitalia"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheFemaleGenitalia"
}
]
} | 0 | {
"document": "Abnormal morphology of female internal genitalia An abnormality of the female internal genitalia. [{'predicate': 'subClassOf', 'target': 'AbnormalInternalGenitalia'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheFemaleGenitalia'}]"
} |
{
"aliases": null,
"definition": "An abnormality of any of the muscles of the pharynx.",
"id": "AbnormalMorphologyOfMusculatureOfPharynx",
"label": "Abnormal morphology of musculature of pharynx",
"logical_definition": null,
"original_id": "HP:0430015",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalPharynxMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of musculature of pharynx An abnormality of any of the muscles of the pharynx. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalPharynxMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).",
"id": "AbnormalMorphologyOfMyocardialTrabeculae",
"label": "Abnormal morphology of myocardial trabeculae",
"logical_definition": null,
"original_id": "HP:0030681",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMyocardiumMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of myocardial trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). [{'predicate': 'subClassOf', 'target': 'AbnormalMyocardiumMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the abdominal musculature.",
"id": "AbnormalMorphologyOfTheAbdominalMusculature",
"label": "Abnormal morphology of the abdominal musculature",
"logical_definition": null,
"original_id": "HP:0010991",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheAbdominalWall"
},
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the abdominal musculature An abnormality of the abdominal musculature. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheAbdominalWall'}, {'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of the chest muscles.",
"id": "AbnormalMorphologyOfTheChestMusculature",
"label": "Abnormal morphology of the chest musculature",
"logical_definition": null,
"original_id": "HP:0410167",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalThoraxMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMusculatureOfTheThorax"
}
]
} | 0 | {
"document": "Abnormal morphology of the chest musculature Any abnormality of the chest muscles. [{'predicate': 'subClassOf', 'target': 'AbnormalThoraxMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMusculatureOfTheThorax'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.",
"id": "AbnormalMorphologyOfTheChordaeTendinaeOfTheMitralValve",
"label": "Abnormal morphology of the chordae tendinae of the mitral valve",
"logical_definition": null,
"original_id": "HP:0025523",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMitralValveMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the chordae tendinae of the mitral valve A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. [{'predicate': 'subClassOf', 'target': 'AbnormalMitralValveMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.",
"id": "AbnormalMorphologyOfTheGreatVessels",
"label": "Abnormal morphology of the great vessels",
"logical_definition": null,
"original_id": "HP:0030962",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBloodVesselMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the great vessels A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. [{'predicate': 'subClassOf', 'target': 'AbnormalBloodVesselMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].",
"id": "AbnormalMorphologyOfTheLimbicSystem",
"label": "Abnormal morphology of the limbic system",
"logical_definition": null,
"original_id": "HP:0007343",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalForebrainMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the limbic system Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. [{'predicate': 'subClassOf', 'target': 'AbnormalForebrainMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the neck musculature.",
"id": "AbnormalMorphologyOfTheMusculatureOfTheNeck",
"label": "Abnormal morphology of the musculature of the neck",
"logical_definition": null,
"original_id": "HP:0011006",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalNeckMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the musculature of the neck An abnormality of the neck musculature. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalNeckMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the Ala of nose.",
"id": "AbnormalMorphologyOfTheNasalAlae",
"label": "Abnormal morphology of the nasal alae",
"logical_definition": null,
"original_id": "HP:0000429",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalExternalNoseMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the nasal alae An abnormality of the Ala of nose. [{'predicate': 'subClassOf', 'target': 'AbnormalExternalNoseMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalMorphologyOfThePelvisMusculature",
"label": "Abnormal morphology of the pelvis musculature",
"logical_definition": null,
"original_id": "HP:0001469",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the pelvis musculature None [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalMorphologyOfTheProximalPhalanxOfThe5thToe",
"label": "Abnormal morphology of the proximal phalanx of the 5th toe",
"logical_definition": null,
"original_id": "HP:0010394",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfToeProximalPhalanx"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfThePhalangesOfThe5thToe"
}
]
} | 0 | {
"document": "Abnormal morphology of the proximal phalanx of the 5th toe None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfToeProximalPhalanx'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfThePhalangesOfThe5thToe'}]"
} |
{
"aliases": null,
"definition": "An abnormal shape or form of the proximal phalanx of the big toe.",
"id": "AbnormalMorphologyOfTheProximalPhalanxOfTheHallux",
"label": "Abnormal morphology of the proximal phalanx of the hallux",
"logical_definition": null,
"original_id": "HP:0010052",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHalluxPhalanxMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMiddlePhalangesOfTheToes"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfToeProximalPhalanx"
}
]
} | 0 | {
"document": "Abnormal morphology of the proximal phalanx of the hallux An abnormal shape or form of the proximal phalanx of the big toe. [{'predicate': 'subClassOf', 'target': 'AbnormalHalluxPhalanxMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMiddlePhalangesOfTheToes'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfToeProximalPhalanx'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of the shoulder muscles.",
"id": "AbnormalMorphologyOfTheShoulderMusculature",
"label": "Abnormal morphology of the shoulder musculature",
"logical_definition": null,
"original_id": "HP:0410169",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
}
]
} | 0 | {
"document": "Abnormal morphology of the shoulder musculature Any abnormality of the shoulder muscles. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly that affects the motor neuron.",
"id": "AbnormalMotorNeuronMorphology",
"label": "Abnormal motor neuron morphology",
"logical_definition": null,
"original_id": "HP:0002450",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNeuronMorphology"
}
]
} | 0 | {
"document": "Abnormal motor neuron morphology Any structural anomaly that affects the motor neuron. [{'predicate': 'subClassOf', 'target': 'AbnormalNeuronMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.",
"id": "AbnormalMuscleFiberMorphology",
"label": "Abnormal muscle fiber morphology",
"logical_definition": null,
"original_id": "HP:0004303",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalCellularPhenotype"
}
]
} | 0 | {
"document": "Abnormal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalCellularPhenotype'}]"
} |
{
"aliases": null,
"definition": "An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.",
"id": "AbnormalMuscleFiberProteinExpression",
"label": "Abnormal muscle fiber protein expression",
"logical_definition": null,
"original_id": "HP:0030089",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberMorphology"
}
]
} | 0 | {
"document": "Abnormal muscle fiber protein expression An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberMorphology'}]"
} |
{
"aliases": null,
"definition": "A functional abnormality of a skeletal muscle.",
"id": "AbnormalMusclePhysiology",
"label": "Abnormal muscle physiology",
"logical_definition": null,
"original_id": "HP:0011804",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMusculature"
}
]
} | 0 | {
"document": "Abnormal muscle physiology A functional abnormality of a skeletal muscle. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMusculature'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalMuscleTissueMetaboliteConcentration",
"label": "Abnormal muscle tissue metabolite concentration",
"logical_definition": null,
"original_id": "HP:0034370",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMuscleMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalTissueMetaboliteConcentration"
}
]
} | 0 | {
"document": "Abnormal muscle tissue metabolite concentration None [{'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMuscleMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalTissueMetaboliteConcentration'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the function of the skeletal system.",
"id": "AbnormalMusculoskeletalPhysiology",
"label": "Abnormal musculoskeletal physiology",
"logical_definition": null,
"original_id": "HP:0011843",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheSkeletalSystem"
}
]
} | 0 | {
"document": "Abnormal musculoskeletal physiology An abnormality of the function of the skeletal system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheSkeletalSystem'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.",
"id": "AbnormalMyeloidCellMorphology",
"label": "Abnormal myeloid cell morphology",
"logical_definition": null,
"original_id": "HP:0020047",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfBloodAndBloodFormingTissues"
},
{
"predicate": "subClassOf",
"target": "AbnormalCellMorphology"
}
]
} | 0 | {
"document": "Abnormal myeloid cell morphology Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfBloodAndBloodFormingTissues'}, {'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of myeloid leukocytes.",
"id": "AbnormalMyeloidLeukocyteMorphology",
"label": "Abnormal myeloid leukocyte morphology",
"logical_definition": null,
"original_id": "HP:0010974",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLeukocyteMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalMyeloidCellMorphology"
}
]
} | 0 | {
"document": "Abnormal myeloid leukocyte morphology An abnormality of myeloid leukocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalLeukocyteMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalMyeloidCellMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the muscle layer of the heart wall.",
"id": "AbnormalMyocardiumMorphology",
"label": "Abnormal myocardium morphology",
"logical_definition": null,
"original_id": "HP:0001637",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHeartMorphology"
}
]
} | 0 | {
"document": "Abnormal myocardium morphology A structural anomaly of the muscle layer of the heart wall. [{'predicate': 'subClassOf', 'target': 'AbnormalHeartMorphology'}]"
} |
{
"aliases": null,
"definition": "A morphological anomaly of the nasal cartilage.",
"id": "AbnormalNasalCartilageMorphology",
"label": "Abnormal nasal cartilage morphology",
"logical_definition": null,
"original_id": "HP:0030027",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfConnectiveTissue"
},
{
"predicate": "subClassOf",
"target": "AbnormalExternalNoseMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalSkeletalMorphology"
}
]
} | 0 | {
"document": "Abnormal nasal cartilage morphology A morphological anomaly of the nasal cartilage. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfConnectiveTissue'}, {'predicate': 'subClassOf', 'target': 'AbnormalExternalNoseMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalSkeletalMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the nasal dorsum, also known as the nasal ridge.",
"id": "AbnormalNasalDorsumMorphology",
"label": "Abnormal nasal dorsum morphology",
"logical_definition": null,
"original_id": "HP:0011119",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalExternalNoseMorphology"
}
]
} | 0 | {
"document": "Abnormal nasal dorsum morphology An abnormality of the nasal dorsum, also known as the nasal ridge. [{'predicate': 'subClassOf', 'target': 'AbnormalExternalNoseMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalNasalMorphology",
"label": "Abnormal nasal morphology",
"logical_definition": null,
"original_id": "HP:0005105",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheNose"
}
]
} | 0 | {
"document": "Abnormal nasal morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheNose'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalNasalMucosaMorphology",
"label": "Abnormal nasal mucosa morphology",
"logical_definition": null,
"original_id": "HP:0000433",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheUpperRespiratoryTract"
},
{
"predicate": "subClassOf",
"target": "AbnormalNasalMorphology"
}
]
} | 0 | {
"document": "Abnormal nasal mucosa morphology None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheUpperRespiratoryTract'}, {'predicate': 'subClassOf', 'target': 'AbnormalNasalMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the nasal septum.",
"id": "AbnormalNasalSeptumMorphology",
"label": "Abnormal nasal septum morphology",
"logical_definition": null,
"original_id": "HP:0000419",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNasalSkeletonMorphology"
}
]
} | 0 | {
"document": "Abnormal nasal septum morphology An abnormality of the nasal septum. [{'predicate': 'subClassOf', 'target': 'AbnormalNasalSkeletonMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the nasal skeleton.",
"id": "AbnormalNasalSkeletonMorphology",
"label": "Abnormal nasal skeleton morphology",
"logical_definition": null,
"original_id": "HP:0010937",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNasalMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFacialSkeletonMorphology"
}
]
} | 0 | {
"document": "Abnormal nasal skeleton morphology An abnormality of the nasal skeleton. [{'predicate': 'subClassOf', 'target': 'AbnormalNasalMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFacialSkeletonMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the nasal tip.",
"id": "AbnormalNasalTipMorphology",
"label": "Abnormal nasal tip morphology",
"logical_definition": null,
"original_id": "HP:0000436",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalExternalNoseMorphology"
}
]
} | 0 | {
"document": "Abnormal nasal tip morphology An abnormality of the nasal tip. [{'predicate': 'subClassOf', 'target': 'AbnormalExternalNoseMorphology'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.",
"id": "AbnormalNasolacrimalSystemMorphology",
"label": "Abnormal nasolacrimal system morphology",
"logical_definition": null,
"original_id": "HP:0000614",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalOcularAdnexaMorphology"
}
]
} | 0 | {
"document": "Abnormal nasolacrimal system morphology An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. [{'predicate': 'subClassOf', 'target': 'AbnormalOcularAdnexaMorphology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality of nasopharyngeal adenoids.",
"id": "AbnormalNasopharyngealAdenoidMorphology",
"label": "Abnormal nasopharyngeal adenoid morphology",
"logical_definition": null,
"original_id": "HP:3000033",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNasopharynxMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheTonsils"
}
]
} | 0 | {
"document": "Abnormal nasopharyngeal adenoid morphology Any abnormality of nasopharyngeal adenoids. [{'predicate': 'subClassOf', 'target': 'AbnormalNasopharynxMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheTonsils'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the nasopharynx.",
"id": "AbnormalNasopharynxMorphology",
"label": "Abnormal nasopharynx morphology",
"logical_definition": null,
"original_id": "HP:0001739",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheNose"
},
{
"predicate": "subClassOf",
"target": "AbnormalPharynxMorphology"
}
]
} | 0 | {
"document": "Abnormal nasopharynx morphology A structural anomaly of the nasopharynx. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheNose'}, {'predicate': 'subClassOf', 'target': 'AbnormalPharynxMorphology'}]"
} |
{
"aliases": null,
"definition": "Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.",
"id": "AbnormalNaturalKillerCellCount",
"label": "Abnormal natural killer cell count",
"logical_definition": null,
"original_id": "HP:0040089",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNaturalKillerCellMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalLymphocyteCount"
}
]
} | 0 | {
"document": "Abnormal natural killer cell count Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. [{'predicate': 'subClassOf', 'target': 'AbnormalNaturalKillerCellMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteCount'}]"
} |
{
"aliases": null,
"definition": "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.",
"id": "AbnormalNaturalKillerCellMorphology",
"label": "Abnormal natural killer cell morphology",
"logical_definition": null,
"original_id": "HP:0012176",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphocyteMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalCellMorphology"
}
]
} | 0 | {
"document": "Abnormal natural killer cell morphology An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]"
} |
{
"aliases": null,
"definition": "A functional anomaly of the natural killer cell.",
"id": "AbnormalNaturalKillerCellPhysiology",
"label": "Abnormal natural killer cell physiology",
"logical_definition": null,
"original_id": "HP:0012177",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphocytePhysiology"
}
]
} | 0 | {
"document": "Abnormal natural killer cell physiology A functional anomaly of the natural killer cell. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocytePhysiology'}]"
} |
{
"aliases": null,
"definition": "Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.",
"id": "AbnormalNaturalKillerSubsetDistribution",
"label": "Abnormal natural killer subset distribution",
"logical_definition": null,
"original_id": "HP:0500033",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNaturalKillerCellCount"
}
]
} | 0 | {
"document": "Abnormal natural killer subset distribution Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. [{'predicate': 'subClassOf', 'target': 'AbnormalNaturalKillerCellCount'}]"
} |
{
"aliases": null,
"definition": "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.",
"id": "AbnormalNeckBloodVesselMorphology",
"label": "Abnormal neck blood vessel morphology",
"logical_definition": null,
"original_id": "HP:3000037",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVascularMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalNeckMorphology"
}
]
} | 0 | {
"document": "Abnormal neck blood vessel morphology An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. [{'predicate': 'subClassOf', 'target': 'AbnormalVascularMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalNeckMorphology'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the neck region.",
"id": "AbnormalNeckMorphology",
"label": "Abnormal neck morphology",
"logical_definition": null,
"original_id": "HP:0025668",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheNeck"
}
]
} | 0 | {
"document": "Abnormal neck morphology Any structural anomaly of the neck region. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheNeck'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the nephron.",
"id": "AbnormalNephronMorphology",
"label": "Abnormal nephron morphology",
"logical_definition": null,
"original_id": "HP:0012575",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRenalMorphology"
}
]
} | 0 | {
"document": "Abnormal nephron morphology A structural anomaly of the nephron. [{'predicate': 'subClassOf', 'target': 'AbnormalRenalMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the nervous system.",
"id": "AbnormalNervousSystemMorphology",
"label": "Abnormal nervous system morphology",
"logical_definition": null,
"original_id": "HP:0012639",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheNervousSystem"
}
]
} | 0 | {
"document": "Abnormal nervous system morphology A structural anomaly of the nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheNervousSystem'}]"
} |
{
"aliases": null,
"definition": "A functional anomaly of the nervous system.",
"id": "AbnormalNervousSystemPhysiology",
"label": "Abnormal nervous system physiology",
"logical_definition": null,
"original_id": "HP:0012638",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheNervousSystem"
}
]
} | 0 | {
"document": "Abnormal nervous system physiology A functional anomaly of the nervous system. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheNervousSystem'}]"
} |
{
"aliases": null,
"definition": "Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).",
"id": "AbnormalNeuralTubeMorphology",
"label": "Abnormal neural tube morphology",
"logical_definition": null,
"original_id": "HP:0410043",
"relationships": [
{
"predicate": "subClassOf",
"target": "MorphologicalCentralNervousSystemAbnormality"
}
]
} | 0 | {
"document": "Abnormal neural tube morphology Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). [{'predicate': 'subClassOf', 'target': 'MorphologicalCentralNervousSystemAbnormality'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.",
"id": "AbnormalNeuronMorphology",
"label": "Abnormal neuron morphology",
"logical_definition": null,
"original_id": "HP:0012757",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNervousSystemMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalCellMorphology"
}
]
} | 0 | {
"document": "Abnormal neuron morphology A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. [{'predicate': 'subClassOf', 'target': 'AbnormalNervousSystemMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalCellMorphology'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal range of neutrophil cell counts in the circulation.",
"id": "AbnormalNeutrophilCount",
"label": "Abnormal neutrophil count",
"logical_definition": null,
"original_id": "HP:0011991",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfNeutrophils"
},
{
"predicate": "subClassOf",
"target": "AbnormalGranulocyteCount"
}
]
} | 0 | {
"document": "Abnormal neutrophil count A deviation from the normal range of neutrophil cell counts in the circulation. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfNeutrophils'}, {'predicate': 'subClassOf', 'target': 'AbnormalGranulocyteCount'}]"
} |
{
"aliases": null,
"definition": "An abnormality of the nipple.",
"id": "AbnormalNippleMorphology",
"label": "Abnormal nipple morphology",
"logical_definition": null,
"original_id": "HP:0004404",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBreastMorphology"
}
]
} | 0 | {
"document": "Abnormal nipple morphology An abnormality of the nipple. [{'predicate': 'subClassOf', 'target': 'AbnormalBreastMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormality of the nostril.",
"id": "AbnormalNostrilMorphology",
"label": "Abnormal nostril morphology",
"logical_definition": null,
"original_id": "HP:0005288",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNasalMorphology"
}
]
} | 0 | {
"document": "Abnormal nostril morphology Abnormality of the nostril. [{'predicate': 'subClassOf', 'target': 'AbnormalNasalMorphology'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.",
"id": "AbnormalNumberOfErythroidPrecursors",
"label": "Abnormal number of erythroid precursors",
"logical_definition": null,
"original_id": "HP:0012131",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalErythrocyteMorphology"
}
]
} | 0 | {
"document": "Abnormal number of erythroid precursors A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [{'predicate': 'subClassOf', 'target': 'AbnormalErythrocyteMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "AbnormalNumberOfGranulocytePrecursors",
"label": "Abnormal number of granulocyte precursors",
"logical_definition": null,
"original_id": "HP:0012137",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalGranulocytopoieticCellMorphology"
}
]
} | 0 | {
"document": "Abnormal number of granulocyte precursors None [{'predicate': 'subClassOf', 'target': 'AbnormalGranulocytopoieticCellMorphology'}]"
} |
{
"aliases": null,
"definition": "The presence of an altered number of of teeth.",
"id": "AbnormalNumberOfTeeth",
"label": "Abnormal number of teeth",
"logical_definition": null,
"original_id": "HP:0006483",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheDentition"
}
]
} | 0 | {
"document": "Abnormal number of teeth The presence of an altered number of of teeth. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheDentition'}]"
} |
{
"aliases": null,
"definition": "A deviation from the normal number of vertebrae in the spinal column.",
"id": "AbnormalNumberOfVertebrae",
"label": "Abnormal number of vertebrae",
"logical_definition": null,
"original_id": "HP:0030304",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalVertebralMorphology"
}
]
} | 0 | {
"document": "Abnormal number of vertebrae A deviation from the normal number of vertebrae in the spinal column. [{'predicate': 'subClassOf', 'target': 'AbnormalVertebralMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormality of the occipital bone of the skull.",
"id": "AbnormalOccipitalBoneMorphology",
"label": "Abnormal occipital bone morphology",
"logical_definition": null,
"original_id": "HP:0012294",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCalvariaMorphology"
}
]
} | 0 | {
"document": "Abnormal occipital bone morphology Abnormality of the occipital bone of the skull. [{'predicate': 'subClassOf', 'target': 'AbnormalCalvariaMorphology'}]"
} |
{
"aliases": null,
"definition": "A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.",
"id": "AbnormalOcularAdnexaMorphology",
"label": "Abnormal ocular adnexa morphology",
"logical_definition": null,
"original_id": "HP:0030669",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheOcularAdnexa"
}
]
} | 0 | {
"document": "Abnormal ocular adnexa morphology A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheOcularAdnexa'}]"
} |
{
"aliases": null,
"definition": "A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.",
"id": "AbnormalOcularAdnexaPhysiology",
"label": "Abnormal ocular adnexa physiology",
"logical_definition": null,
"original_id": "HP:0032040",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheOcularAdnexa"
}
]
} | 0 | {
"document": "Abnormal ocular adnexa physiology A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheOcularAdnexa'}]"
} |
Subsets and Splits