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dict |
|---|---|---|
{
"aliases": null,
"definition": "Aplasia of frontal sinus.",
"id": "AbsentFrontalSinuses",
"label": "Absent frontal sinuses",
"logical_definition": null,
"original_id": "HP:0002688",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheFrontalSinuses"
}
]
}
| 0 |
{
"document": "Absent frontal sinuses Aplasia of frontal sinus. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheFrontalSinuses'}]"
}
|
{
"aliases": null,
"definition": "A developmental defect in which the gallbladder fails to form.",
"id": "AbsentGallbladder",
"label": "Absent gallbladder",
"logical_definition": null,
"original_id": "HP:0011467",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheGallbladder"
}
]
}
| 0 |
{
"document": "Absent gallbladder A developmental defect in which the gallbladder fails to form. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheGallbladder'}]"
}
|
{
"aliases": null,
"definition": "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.",
"id": "AbsentGlenoidFossa",
"label": "Absent glenoid fossa",
"logical_definition": null,
"original_id": "HP:0006591",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheGlenoidFossa"
}
]
}
| 0 |
{
"document": "Absent glenoid fossa Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheGlenoidFossa'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentHair",
"label": "Absent hair",
"logical_definition": null,
"original_id": "HP:0002298",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHairQuantity"
}
]
}
| 0 |
{
"document": "Absent hair None [{'predicate': 'subClassOf', 'target': 'AbnormalHairQuantity'}]"
}
|
{
"aliases": null,
"definition": "Aplasia of the hallux, that is, a development defect such that the big toe does not develop.",
"id": "AbsentHallux",
"label": "Absent hallux",
"logical_definition": null,
"original_id": "HP:0012386",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheHallux"
}
]
}
| 0 |
{
"document": "Absent hallux Aplasia of the hallux, that is, a development defect such that the big toe does not develop. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheHallux'}]"
}
|
{
"aliases": null,
"definition": "Failure to form (agenesis) of one or more epiphyses of the big toe.",
"id": "AbsentHalluxEpiphysis",
"label": "Absent hallux epiphysis",
"logical_definition": null,
"original_id": "HP:0010113",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfTheHallux"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheToes"
}
]
}
| 0 |
{
"document": "Absent hallux epiphysis Failure to form (agenesis) of one or more epiphyses of the big toe. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfTheHallux'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheToes'}]"
}
|
{
"aliases": null,
"definition": "The total absence of the hand, with no bony elements distal to the radius or ulna.",
"id": "AbsentHand",
"label": "Absent hand",
"logical_definition": null,
"original_id": "HP:0004050",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaInvolvingBonesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent hand The total absence of the hand, with no bony elements distal to the radius or ulna. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaInvolvingBonesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.",
"id": "AbsentHippocampalCommissure",
"label": "Absent hippocampal commissure",
"logical_definition": null,
"original_id": "HP:0033646",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalHippocampusMorphology"
}
]
}
| 0 |
{
"document": "Absent hippocampal commissure Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. [{'predicate': 'subClassOf', 'target': 'AbnormalHippocampusMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of formation of bone in the epiphysis of the humerus.",
"id": "AbsentHumeralEpiphysealOssification",
"label": "Absent humeral epiphyseal ossification",
"logical_definition": null,
"original_id": "HP:0003892",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheHumeralEpiphysis"
},
{
"predicate": "subClassOf",
"target": "AbnormalHumeralOssification"
}
]
}
| 0 |
{
"document": "Absent humeral epiphyseal ossification Lack of formation of bone in the epiphysis of the humerus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheHumeralEpiphysis'}, {'predicate': 'subClassOf', 'target': 'AbnormalHumeralOssification'}]"
}
|
{
"aliases": null,
"definition": "Missing humerus bone associated with congenital failure of development.",
"id": "AbsentHumerus",
"label": "Absent humerus",
"logical_definition": null,
"original_id": "HP:0003862",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheHumerus"
}
]
}
| 0 |
{
"document": "Absent humerus Missing humerus bone associated with congenital failure of development. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheHumerus'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentHypoplasticCoccyx",
"label": "Absent/hypoplastic coccyx",
"logical_definition": null,
"original_id": "HP:0008436",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheSacrum"
}
]
}
| 0 |
{
"document": "Absent/hypoplastic coccyx None [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheSacrum'}]"
}
|
{
"aliases": null,
"definition": "Aplasia or hypoplasia of the paranasal sinuses.",
"id": "AbsentHypoplasticParanasalSinuses",
"label": "Absent/hypoplastic paranasal sinuses",
"logical_definition": null,
"original_id": "HP:0005453",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaInvolvingTheSinuses"
}
]
}
| 0 |
{
"document": "Absent/hypoplastic paranasal sinuses Aplasia or hypoplasia of the paranasal sinuses. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaInvolvingTheSinuses'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentInUteroOssificationOfVertebralBodies",
"label": "Absent in utero ossification of vertebral bodies",
"logical_definition": null,
"original_id": "HP:0008435",
"relationships": [
{
"predicate": "subClassOf",
"target": "UnossifiedVertebralBodies"
}
]
}
| 0 |
{
"document": "Absent in utero ossification of vertebral bodies None [{'predicate': 'subClassOf', 'target': 'UnossifiedVertebralBodies'}]"
}
|
{
"aliases": null,
"definition": "Lack of formation and mineralization of the ribs in utero.",
"id": "AbsentInUteroRibOssification",
"label": "Absent in utero rib ossification",
"logical_definition": null,
"original_id": "HP:0006615",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRibOssification"
}
]
}
| 0 |
{
"document": "Absent in utero rib ossification Lack of formation and mineralization of the ribs in utero. [{'predicate': 'subClassOf', 'target': 'AbnormalRibOssification'}]"
}
|
{
"aliases": null,
"definition": "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.",
"id": "AbsentInnerAndOuterDyneinArms",
"label": "Absent inner and outer dynein arms",
"logical_definition": null,
"original_id": "HP:0012259",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentOuterDyneinArms"
},
{
"predicate": "subClassOf",
"target": "AbsentInnerDyneinArms"
}
]
}
| 0 |
{
"document": "Absent inner and outer dynein arms Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [{'predicate': 'subClassOf', 'target': 'AbsentOuterDyneinArms'}, {'predicate': 'subClassOf', 'target': 'AbsentInnerDyneinArms'}]"
}
|
{
"aliases": null,
"definition": "Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.",
"id": "AbsentInnerDyneinArms",
"label": "Absent inner dynein arms",
"logical_definition": null,
"original_id": "HP:0012257",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentShortenedDyneinArms"
}
]
}
| 0 |
{
"document": "Absent inner dynein arms Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [{'predicate': 'subClassOf', 'target': 'AbsentShortenedDyneinArms'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentInnerEyelashes",
"label": "Absent inner eyelashes",
"logical_definition": null,
"original_id": "HP:0007708",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEyelashes"
}
]
}
| 0 |
{
"document": "Absent inner eyelashes None [{'predicate': 'subClassOf', 'target': 'AbsentEyelashes'}]"
}
|
{
"aliases": null,
"definition": "Aplasia of the internal auditory canal.",
"id": "AbsentInternalAuditoryCanal",
"label": "Absent internal auditory canal",
"logical_definition": null,
"original_id": "HP:0011385",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheInternalAuditoryCanal"
}
]
}
| 0 |
{
"document": "Absent internal auditory canal Aplasia of the internal auditory canal. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheInternalAuditoryCanal'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentInternalGenitalia",
"label": "Absent internal genitalia",
"logical_definition": null,
"original_id": "HP:0008702",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalInternalGenitalia"
}
]
}
| 0 |
{
"document": "Absent internal genitalia None [{'predicate': 'subClassOf', 'target': 'AbnormalInternalGenitalia'}]"
}
|
{
"aliases": null,
"definition": "Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).",
"id": "AbsentIsohemagglutininLevel",
"label": "Absent isohemagglutinin level",
"logical_definition": null,
"original_id": "HP:0410293",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalIsohemagglutininLevel"
}
]
}
| 0 |
{
"document": "Absent isohemagglutinin level Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). [{'predicate': 'subClassOf', 'target': 'AbnormalIsohemagglutininLevel'}]"
}
|
{
"aliases": null,
"definition": "Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.",
"id": "AbsentKeratohyalinGranules",
"label": "Absent keratohyalin granules",
"logical_definition": null,
"original_id": "HP:0033807",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEpidermisStratumGranulosumMorphology"
}
]
}
| 0 |
{
"document": "Absent keratohyalin granules Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. [{'predicate': 'subClassOf', 'target': 'AbnormalEpidermisStratumGranulosumMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentKneeEpiphyses",
"label": "Absent knee epiphyses",
"logical_definition": null,
"original_id": "HP:0006400",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphyses"
},
{
"predicate": "subClassOf",
"target": "AbnormalKneeMorphology"
}
]
}
| 0 |
{
"document": "Absent knee epiphyses None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphyses'}, {'predicate': 'subClassOf', 'target': 'AbnormalKneeMorphology'}]"
}
|
{
"aliases": null,
"definition": "No identifiable superior and/or inferior lacrimal punctum.",
"id": "AbsentLacrimalPunctum",
"label": "Absent lacrimal punctum",
"logical_definition": null,
"original_id": "HP:0001092",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLacrimalPunctumMorphology"
}
]
}
| 0 |
{
"document": "Absent lacrimal punctum No identifiable superior and/or inferior lacrimal punctum. [{'predicate': 'subClassOf', 'target': 'AbnormalLacrimalPunctumMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.",
"id": "AbsentLanugo",
"label": "Absent lanugo",
"logical_definition": null,
"original_id": "HP:0034262",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalSkinMorphology"
}
]
}
| 0 |
{
"document": "Absent lanugo Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalSkinMorphology'}]"
}
|
{
"aliases": null,
"definition": "The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.",
"id": "AbsentLeftMainCoronaryArtery",
"label": "Absent left main coronary artery",
"logical_definition": null,
"original_id": "HP:0031639",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCoronaryArteryOrigin"
}
]
}
| 0 |
{
"document": "Absent left main coronary artery The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava. [{'predicate': 'subClassOf', 'target': 'AbnormalCoronaryArteryOrigin'}]"
}
|
{
"aliases": null,
"definition": "A defect where there is no connection between the left atrium and left ventricle.",
"id": "AbsentLeftSidedAtrioventricularConnection",
"label": "Absent left sided atrioventricular connection",
"logical_definition": null,
"original_id": "HP:0011547",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAtrioventricularConnection"
}
]
}
| 0 |
{
"document": "Absent left sided atrioventricular connection A defect where there is no connection between the left atrium and left ventricle. [{'predicate': 'subClassOf', 'target': 'AbnormalAtrioventricularConnection'}]"
}
|
{
"aliases": null,
"definition": "Alkaline phosphatase levels measured within leukocytes is below detectable levels.",
"id": "AbsentLeukocyteAlkalinePhosphatase",
"label": "Absent leukocyte alkaline phosphatase",
"logical_definition": null,
"original_id": "HP:0008161",
"relationships": [
{
"predicate": "subClassOf",
"target": "ReducedLeukocyteAlkalinePhosphatase"
}
]
}
| 0 |
{
"document": "Absent leukocyte alkaline phosphatase Alkaline phosphatase levels measured within leukocytes is below detectable levels. [{'predicate': 'subClassOf', 'target': 'ReducedLeukocyteAlkalinePhosphatase'}]"
}
|
{
"aliases": null,
"definition": "Lack of eyelashes on the lower lid.",
"id": "AbsentLowerEyelashes",
"label": "Absent lower eyelashes",
"logical_definition": null,
"original_id": "HP:0007646",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEyelashes"
}
]
}
| 0 |
{
"document": "Absent lower eyelashes Lack of eyelashes on the lower lid. [{'predicate': 'subClassOf', 'target': 'AbsentEyelashes'}]"
}
|
{
"aliases": null,
"definition": "Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.",
"id": "AbsentLunula",
"label": "Absent lunula",
"logical_definition": null,
"original_id": "HP:0030805",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheNail"
}
]
}
| 0 |
{
"document": "Absent lunula Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheNail'}]"
}
|
{
"aliases": null,
"definition": "Aplasia of the malleus.",
"id": "AbsentMalleus",
"label": "Absent malleus",
"logical_definition": null,
"original_id": "HP:0011455",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheMalleus"
}
]
}
| 0 |
{
"document": "Absent malleus Aplasia of the malleus. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheMalleus'}]"
}
|
{
"aliases": null,
"definition": "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.",
"id": "AbsentMastoid",
"label": "Absent mastoid",
"logical_definition": null,
"original_id": "HP:0012761",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMastoidMorphology"
}
]
}
| 0 |
{
"document": "Absent mastoid A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. [{'predicate': 'subClassOf', 'target': 'AbnormalMastoidMorphology'}]"
}
|
{
"aliases": null,
"definition": "Agenesis of the midbrain.",
"id": "AbsentMesencephalon",
"label": "Absent mesencephalon",
"logical_definition": null,
"original_id": "HP:0007265",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheMidbrain"
}
]
}
| 0 |
{
"document": "Absent mesencephalon Agenesis of the midbrain. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheMidbrain'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.",
"id": "AbsentMetacarpalEpiphyses",
"label": "Absent metacarpal epiphyses",
"logical_definition": null,
"original_id": "HP:0009196",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetacarpalEpiphysisMorphology"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphyses"
}
]
}
| 0 |
{
"document": "Absent metacarpal epiphyses Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. [{'predicate': 'subClassOf', 'target': 'AbnormalMetacarpalEpiphysisMorphology'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphyses'}]"
}
|
{
"aliases": null,
"definition": "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.",
"id": "AbsentMetatarsalBone",
"label": "Absent metatarsal bone",
"logical_definition": null,
"original_id": "HP:0010744",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfMetatarsalBones"
}
]
}
| 0 |
{
"document": "Absent metatarsal bone A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfMetatarsalBones'}]"
}
|
{
"aliases": null,
"definition": "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.",
"id": "AbsentMicrovilliOnTheSurfaceOfPeripheralBloodLymphocytes",
"label": "Absent microvilli on the surface of peripheral blood lymphocytes",
"logical_definition": null,
"original_id": "HP:0002971",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphocyteMorphology"
}
]
}
| 0 |
{
"document": "Absent microvilli on the surface of peripheral blood lymphocytes Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphocyteMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of the middle phalanx of the index (2nd) finger.",
"id": "AbsentMiddlePhalanxOf2ndFinger",
"label": "Absent middle phalanx of 2nd finger",
"logical_definition": null,
"original_id": "HP:0009576",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheMiddlePhalanxOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheMiddlePhalanxOfTheHand"
}
]
}
| 0 |
{
"document": "Absent middle phalanx of 2nd finger Absence of the middle phalanx of the index (2nd) finger. [{'predicate': 'subClassOf', 'target': 'AplasiaOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheMiddlePhalanxOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheMiddlePhalanxOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of the middle phalanx of the middle (3rd) finger.",
"id": "AbsentMiddlePhalanxOf3rdFinger",
"label": "Absent middle phalanx of 3rd finger",
"logical_definition": null,
"original_id": "HP:0009438",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheMiddlePhalanxOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheMiddlePhalanxOfTheHand"
}
]
}
| 0 |
{
"document": "Absent middle phalanx of 3rd finger Absence of the middle phalanx of the middle (3rd) finger. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheMiddlePhalanxOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheMiddlePhalanxOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of the middle phalanx of the ring (4th) finger.",
"id": "AbsentMiddlePhalanxOf4thFinger",
"label": "Absent middle phalanx of 4th finger",
"logical_definition": null,
"original_id": "HP:0009294",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheMiddlePhalanxOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheMiddlePhalanxOfTheHand"
}
]
}
| 0 |
{
"document": "Absent middle phalanx of 4th finger Absence of the middle phalanx of the ring (4th) finger. [{'predicate': 'subClassOf', 'target': 'AplasiaOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheMiddlePhalanxOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheMiddlePhalanxOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of the middle phalanx of the little (5th) finger.",
"id": "AbsentMiddlePhalanxOf5thFinger",
"label": "Absent middle phalanx of 5th finger",
"logical_definition": null,
"original_id": "HP:0009162",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheMiddlePhalanxOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheMiddlePhalanxOfTheHand"
}
]
}
| 0 |
{
"document": "Absent middle phalanx of 5th finger Absence of the middle phalanx of the little (5th) finger. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheMiddlePhalanxOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheMiddlePhalanxOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Developmental aplasia of the middle phalanx of third toe.",
"id": "AbsentMiddlePhalanxOfThe3rdToe",
"label": "Absent middle phalanx of the 3rd toe",
"logical_definition": null,
"original_id": "HP:0100381",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaOfThePhalangesOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheMiddlePhalanxOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheMiddlePhalangesOfTheToes"
}
]
}
| 0 |
{
"document": "Absent middle phalanx of the 3rd toe Developmental aplasia of the middle phalanx of third toe. [{'predicate': 'subClassOf', 'target': 'AplasiaOfThePhalangesOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheMiddlePhalanxOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheMiddlePhalangesOfTheToes'}]"
}
|
{
"aliases": null,
"definition": "Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.",
"id": "AbsentMuscleDystrophinExpression",
"label": "Absent muscle dystrophin expression",
"logical_definition": null,
"original_id": "HP:0030097",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberDystrophinExpression"
}
]
}
| 0 |
{
"document": "Absent muscle dystrophin expression Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberDystrophinExpression'}]"
}
|
{
"aliases": null,
"definition": "Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.",
"id": "AbsentMuscleFiberAlphaSarcoglycan",
"label": "Absent muscle fiber alpha sarcoglycan",
"logical_definition": null,
"original_id": "HP:0030101",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberAlphaSarcoglycan"
}
]
}
| 0 |
{
"document": "Absent muscle fiber alpha sarcoglycan Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberAlphaSarcoglycan'}]"
}
|
{
"aliases": null,
"definition": "Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.",
"id": "AbsentMuscleFiberBetaSarcoglycan",
"label": "Absent muscle fiber beta sarcoglycan",
"logical_definition": null,
"original_id": "HP:0030106",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberBetaSarcoglycan"
}
]
}
| 0 |
{
"document": "Absent muscle fiber beta sarcoglycan Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberBetaSarcoglycan'}]"
}
|
{
"aliases": null,
"definition": "Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.",
"id": "AbsentMuscleFiberCalpain3",
"label": "Absent muscle fiber calpain-3",
"logical_definition": null,
"original_id": "HP:0030120",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberCalpain3"
}
]
}
| 0 |
{
"document": "Absent muscle fiber calpain-3 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberCalpain3'}]"
}
|
{
"aliases": null,
"definition": "Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.",
"id": "AbsentMuscleFiberDeltaSarcoglycan",
"label": "Absent muscle fiber delta sarcoglycan",
"logical_definition": null,
"original_id": "HP:0030110",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberDeltaSarcoglycan"
}
]
}
| 0 |
{
"document": "Absent muscle fiber delta sarcoglycan Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberDeltaSarcoglycan'}]"
}
|
{
"aliases": null,
"definition": "Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.",
"id": "AbsentMuscleFiberDysferlin",
"label": "Absent muscle fiber dysferlin",
"logical_definition": null,
"original_id": "HP:0030114",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberDysferlin"
}
]
}
| 0 |
{
"document": "Absent muscle fiber dysferlin Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberDysferlin'}]"
}
|
{
"aliases": null,
"definition": "Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.",
"id": "AbsentMuscleFiberEmerin",
"label": "Absent muscle fiber emerin",
"logical_definition": null,
"original_id": "HP:0030117",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberEmerin"
}
]
}
| 0 |
{
"document": "Absent muscle fiber emerin Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberEmerin'}]"
}
|
{
"aliases": null,
"definition": "Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.",
"id": "AbsentMuscleFiberGammaSarcoglycan",
"label": "Absent muscle fiber gamma sarcoglycan",
"logical_definition": null,
"original_id": "HP:0030109",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberGammaSarcoglycan"
}
]
}
| 0 |
{
"document": "Absent muscle fiber gamma sarcoglycan Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberGammaSarcoglycan'}]"
}
|
{
"aliases": null,
"definition": "Lack of merosin protein in the muscle biopsy.",
"id": "AbsentMuscleFiberMerosin",
"label": "Absent muscle fiber merosin",
"logical_definition": null,
"original_id": "HP:0030091",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberMerosinExpression"
}
]
}
| 0 |
{
"document": "Absent muscle fiber merosin Lack of merosin protein in the muscle biopsy. [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberMerosinExpression'}]"
}
|
{
"aliases": null,
"definition": "Absent nail of big toe.",
"id": "AbsentNailOfHallux",
"label": "Absent nail of hallux",
"logical_definition": null,
"original_id": "HP:0012555",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentToenail"
}
]
}
| 0 |
{
"document": "Absent nail of hallux Absent nail of big toe. [{'predicate': 'subClassOf', 'target': 'AbsentToenail'}]"
}
|
{
"aliases": null,
"definition": "The nostrils (the paired channels of the nose) are not present.",
"id": "AbsentNares",
"label": "Absent nares",
"logical_definition": null,
"original_id": "HP:0100596",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNostrilMorphology"
}
]
}
| 0 |
{
"document": "Absent nares The nostrils (the paired channels of the nose) are not present. [{'predicate': 'subClassOf', 'target': 'AbnormalNostrilMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentNasalBridge",
"label": "Absent nasal bridge",
"logical_definition": null,
"original_id": "HP:0005285",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNasalBridgeMorphology"
}
]
}
| 0 |
{
"document": "Absent nasal bridge None [{'predicate': 'subClassOf', 'target': 'AbnormalNasalBridgeMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of a palpable nasal cartilage.",
"id": "AbsentNasalCartilage",
"label": "Absent nasal cartilage",
"logical_definition": null,
"original_id": "HP:0030028",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNasalCartilageMorphology"
}
]
}
| 0 |
{
"document": "Absent nasal cartilage Lack of a palpable nasal cartilage. [{'predicate': 'subClassOf', 'target': 'AbnormalNasalCartilageMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of the cartilage of the nasal septum.",
"id": "AbsentNasalSeptalCartilage",
"label": "Absent nasal septal cartilage",
"logical_definition": null,
"original_id": "HP:0005273",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheNasalSeptum"
},
{
"predicate": "subClassOf",
"target": "AbnormalityNasalSeptumCartilageMorphology"
}
]
}
| 0 |
{
"document": "Absent nasal septal cartilage Lack of the cartilage of the nasal septum. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheNasalSeptum'}, {'predicate': 'subClassOf', 'target': 'AbnormalityNasalSeptumCartilageMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.",
"id": "AbsentNaturalKillerCells",
"label": "Absent natural killer cells",
"logical_definition": null,
"original_id": "HP:0040219",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNaturalKillerSubsetDistribution"
}
]
}
| 0 |
{
"document": "Absent natural killer cells Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. [{'predicate': 'subClassOf', 'target': 'AbnormalNaturalKillerSubsetDistribution'}]"
}
|
{
"aliases": null,
"definition": "The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.",
"id": "AbsentNeutrophilLactoferrin",
"label": "Absent neutrophil lactoferrin",
"logical_definition": null,
"original_id": "HP:0041042",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentNeutrophilSpecificGranules"
}
]
}
| 0 |
{
"document": "Absent neutrophil lactoferrin The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. [{'predicate': 'subClassOf', 'target': 'AbsentNeutrophilSpecificGranules'}]"
}
|
{
"aliases": null,
"definition": "Lack of specific granules in neutrophils.",
"id": "AbsentNeutrophilSpecificGranules",
"label": "Absent neutrophil specific granules",
"logical_definition": null,
"original_id": "HP:0012551",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfNeutrophilMorphology"
}
]
}
| 0 |
{
"document": "Absent neutrophil specific granules Lack of specific granules in neutrophils. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfNeutrophilMorphology'}]"
}
|
{
"aliases": null,
"definition": "Congenital failure to develop, and absence of, the nipple.",
"id": "AbsentNipple",
"label": "Absent nipple",
"logical_definition": null,
"original_id": "HP:0002561",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheNipples"
}
]
}
| 0 |
{
"document": "Absent nipple Congenital failure to develop, and absence of, the nipple. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheNipples'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentOrMinimallyOssifiedVertebralBodies",
"label": "Absent or minimally ossified vertebral bodies",
"logical_definition": null,
"original_id": "HP:0004599",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormallyOssifiedVertebrae"
}
]
}
| 0 |
{
"document": "Absent or minimally ossified vertebral bodies None [{'predicate': 'subClassOf', 'target': 'AbnormallyOssifiedVertebrae'}]"
}
|
{
"aliases": null,
"definition": "Absent ossification of the calvaria (vault of the skull).",
"id": "AbsentOssificationOfCalvaria",
"label": "Absent ossification of calvaria",
"logical_definition": null,
"original_id": "HP:0005623",
"relationships": [
{
"predicate": "subClassOf",
"target": "DecreasedCalvarialOssification"
}
]
}
| 0 |
{
"document": "Absent ossification of calvaria Absent ossification of the calvaria (vault of the skull). [{'predicate': 'subClassOf', 'target': 'DecreasedCalvarialOssification'}]"
}
|
{
"aliases": null,
"definition": "Lack of ossification of the proximal epiphysis of the femur.",
"id": "AbsentOssificationOfCapitalFemoralEpiphysis",
"label": "Absent ossification of capital femoral epiphysis",
"logical_definition": null,
"original_id": "HP:0008820",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheCapitalFemoralEpiphysis"
},
{
"predicate": "subClassOf",
"target": "AbnormalOssificationInvolvingTheFemoralHeadAndNeck"
},
{
"predicate": "subClassOf",
"target": "AbnormalEpiphysealOssification"
}
]
}
| 0 |
{
"document": "Absent ossification of capital femoral epiphysis Lack of ossification of the proximal epiphysis of the femur. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheCapitalFemoralEpiphysis'}, {'predicate': 'subClassOf', 'target': 'AbnormalOssificationInvolvingTheFemoralHeadAndNeck'}, {'predicate': 'subClassOf', 'target': 'AbnormalEpiphysealOssification'}]"
}
|
{
"aliases": null,
"definition": "A lack of bone mineralization of one or more body of cervical vertebra.",
"id": "AbsentOssificationOfCervicalVertebralBodies",
"label": "Absent ossification of cervical vertebral bodies",
"logical_definition": null,
"original_id": "HP:0005885",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentOrMinimallyOssifiedVertebralBodies"
}
]
}
| 0 |
{
"document": "Absent ossification of cervical vertebral bodies A lack of bone mineralization of one or more body of cervical vertebra. [{'predicate': 'subClassOf', 'target': 'AbsentOrMinimallyOssifiedVertebralBodies'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentOssificationOfTheTrapezium",
"label": "Absent ossification of the trapezium",
"logical_definition": null,
"original_id": "HP:0045002",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalOssificationOfTheTrapezium"
}
]
}
| 0 |
{
"document": "Absent ossification of the trapezium None [{'predicate': 'subClassOf', 'target': 'AbnormalOssificationOfTheTrapezium'}]"
}
|
{
"aliases": null,
"definition": "A lack of bone mineralization of one or more body of thoracic vertebra.",
"id": "AbsentOssificationOfThoracicVertebralBodies",
"label": "Absent ossification of thoracic vertebral bodies",
"logical_definition": null,
"original_id": "HP:0012792",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentOrMinimallyOssifiedVertebralBodies"
}
]
}
| 0 |
{
"document": "Absent ossification of thoracic vertebral bodies A lack of bone mineralization of one or more body of thoracic vertebra. [{'predicate': 'subClassOf', 'target': 'AbsentOrMinimallyOssifiedVertebralBodies'}]"
}
|
{
"aliases": null,
"definition": "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.",
"id": "AbsentOuterDyneinArms",
"label": "Absent outer dynein arms",
"logical_definition": null,
"original_id": "HP:0012256",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentShortenedDyneinArms"
}
]
}
| 0 |
{
"document": "Absent outer dynein arms Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [{'predicate': 'subClassOf', 'target': 'AbsentShortenedDyneinArms'}]"
}
|
{
"aliases": null,
"definition": "The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.",
"id": "AbsentPWave",
"label": "Absent P wave",
"logical_definition": null,
"original_id": "HP:0033122",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPWave"
}
]
}
| 0 |
{
"document": "Absent P wave The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. [{'predicate': 'subClassOf', 'target': 'AbnormalPWave'}]"
}
|
{
"aliases": null,
"definition": "Lack of formation of the palatine bone.",
"id": "AbsentPalatineBoneOssification",
"label": "Absent palatine bone ossification",
"logical_definition": null,
"original_id": "HP:0430013",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPalatineBoneMorphology"
}
]
}
| 0 |
{
"document": "Absent palatine bone ossification Lack of formation of the palatine bone. [{'predicate': 'subClassOf', 'target': 'AbnormalPalatineBoneMorphology'}]"
}
|
{
"aliases": null,
"definition": "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).",
"id": "AbsentPalmarCrease",
"label": "Absent palmar crease",
"logical_definition": null,
"original_id": "HP:0010489",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfThePalmarCreases"
}
]
}
| 0 |
{
"document": "Absent palmar crease The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfThePalmarCreases'}]"
}
|
{
"aliases": null,
"definition": "Aplasia of the paranasal sinuses.",
"id": "AbsentParanasalSinuses",
"label": "Absent paranasal sinuses",
"logical_definition": null,
"original_id": "HP:0002689",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentHypoplasticParanasalSinuses"
}
]
}
| 0 |
{
"document": "Absent paranasal sinuses Aplasia of the paranasal sinuses. [{'predicate': 'subClassOf', 'target': 'AbsentHypoplasticParanasalSinuses'}]"
}
|
{
"aliases": null,
"definition": "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.",
"id": "AbsentPatellarReflexes",
"label": "Absent patellar reflexes",
"logical_definition": null,
"original_id": "HP:0006844",
"relationships": [
{
"predicate": "subClassOf",
"target": "AreflexiaOfLowerLimbs"
}
]
}
| 0 |
{
"document": "Absent patellar reflexes Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. [{'predicate': 'subClassOf', 'target': 'AreflexiaOfLowerLimbs'}]"
}
|
{
"aliases": null,
"definition": "Lack of recognizable penile structures.",
"id": "AbsentPenis",
"label": "Absent penis",
"logical_definition": null,
"original_id": "HP:0030261",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPenisMorphology"
}
]
}
| 0 |
{
"document": "Absent penis Lack of recognizable penile structures. [{'predicate': 'subClassOf', 'target': 'AbnormalPenisMorphology'}]"
}
|
{
"aliases": null,
"definition": "The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.",
"id": "AbsentPeripheralLymphNodesInPresenceOfInfection",
"label": "Absent peripheral lymph nodes in presence of infection",
"logical_definition": null,
"original_id": "HP:0033581",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLymphNodeMorphology"
}
]
}
| 0 |
{
"document": "Absent peripheral lymph nodes in presence of infection The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. [{'predicate': 'subClassOf', 'target': 'AbnormalLymphNodeMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).",
"id": "AbsentPhalangealCrease",
"label": "Absent phalangeal crease",
"logical_definition": null,
"original_id": "HP:0006109",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFingerFlexionCrease"
}
]
}
| 0 |
{
"document": "Absent phalangeal crease Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). [{'predicate': 'subClassOf', 'target': 'AbnormalFingerFlexionCrease'}]"
}
|
{
"aliases": null,
"definition": "Lack of skin pigmentation (coloring) of the chest.",
"id": "AbsentPigmentationOfChest",
"label": "Absent pigmentation of chest",
"logical_definition": null,
"original_id": "HP:0040007",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentSkinPigmentation"
}
]
}
| 0 |
{
"document": "Absent pigmentation of chest Lack of skin pigmentation (coloring) of the chest. [{'predicate': 'subClassOf', 'target': 'AbsentSkinPigmentation'}]"
}
|
{
"aliases": null,
"definition": "Lack of skin pigmentation (coloring) of the abdomen.",
"id": "AbsentPigmentationOfTheAbdomen",
"label": "Absent pigmentation of the abdomen",
"logical_definition": null,
"original_id": "HP:0012319",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentSkinPigmentation"
}
]
}
| 0 |
{
"document": "Absent pigmentation of the abdomen Lack of skin pigmentation (coloring) of the abdomen. [{'predicate': 'subClassOf', 'target': 'AbsentSkinPigmentation'}]"
}
|
{
"aliases": null,
"definition": "Lack of skin pigmentation (coloring) of the arms and legs.",
"id": "AbsentPigmentationOfTheLimbs",
"label": "Absent pigmentation of the limbs",
"logical_definition": null,
"original_id": "HP:0012320",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentSkinPigmentation"
}
]
}
| 0 |
{
"document": "Absent pigmentation of the limbs Lack of skin pigmentation (coloring) of the arms and legs. [{'predicate': 'subClassOf', 'target': 'AbsentSkinPigmentation'}]"
}
|
{
"aliases": null,
"definition": "Lack of skin pigmentation (coloring) of the anterior chest.",
"id": "AbsentPigmentationOfTheVentralChest",
"label": "Absent pigmentation of the ventral chest",
"logical_definition": null,
"original_id": "HP:0007542",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentPigmentationOfChest"
}
]
}
| 0 |
{
"document": "Absent pigmentation of the ventral chest Lack of skin pigmentation (coloring) of the anterior chest. [{'predicate': 'subClassOf', 'target': 'AbsentPigmentationOfChest'}]"
}
|
{
"aliases": null,
"definition": "Lack of platelet dense granules, a type of platelet organelles.",
"id": "AbsentPlateletDenseGranules",
"label": "Absent platelet dense granules",
"logical_definition": null,
"original_id": "HP:0033263",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalNumberOfDenseGranules"
}
]
}
| 0 |
{
"document": "Absent platelet dense granules Lack of platelet dense granules, a type of platelet organelles. [{'predicate': 'subClassOf', 'target': 'AbnormalNumberOfDenseGranules'}]"
}
|
{
"aliases": null,
"definition": "Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.",
"id": "AbsentPosteriorAlphaRhythm",
"label": "Absent posterior alpha rhythm",
"logical_definition": null,
"original_id": "HP:0031518",
"relationships": [
{
"predicate": "subClassOf",
"target": "InterictalEEGAbnormality"
}
]
}
| 0 |
{
"document": "Absent posterior alpha rhythm Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. [{'predicate': 'subClassOf', 'target': 'InterictalEEGAbnormality'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentPrimaryMetaphysealSpongiosa",
"label": "Absent primary metaphyseal spongiosa",
"logical_definition": null,
"original_id": "HP:0003332",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMetaphysealTrabeculation"
}
]
}
| 0 |
{
"document": "Absent primary metaphyseal spongiosa None [{'predicate': 'subClassOf', 'target': 'AbnormalMetaphysealTrabeculation'}]"
}
|
{
"aliases": null,
"definition": "Absence of the proximal interphalangeal flexion creases of the fingers.",
"id": "AbsentProximalFingerFlexionCreases",
"label": "Absent proximal finger flexion creases",
"logical_definition": null,
"original_id": "HP:0006077",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentPhalangealCrease"
}
]
}
| 0 |
{
"document": "Absent proximal finger flexion creases Absence of the proximal interphalangeal flexion creases of the fingers. [{'predicate': 'subClassOf', 'target': 'AbsentPhalangealCrease'}]"
}
|
{
"aliases": null,
"definition": "Absence of proximal phalanx of third toe, owing to a congenital defect of development.",
"id": "AbsentProximalPhalanxOfThe3rdToe",
"label": "Absent proximal phalanx of the 3rd toe",
"logical_definition": null,
"original_id": "HP:0100384",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaOfThePhalangesOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheProximalPhalanxOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheProximalPhalangesOfTheToes"
}
]
}
| 0 |
{
"document": "Absent proximal phalanx of the 3rd toe Absence of proximal phalanx of third toe, owing to a congenital defect of development. [{'predicate': 'subClassOf', 'target': 'AplasiaOfThePhalangesOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheProximalPhalanxOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheProximalPhalangesOfTheToes'}]"
}
|
{
"aliases": null,
"definition": "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.",
"id": "AbsentProximalPhalanxOfThumb",
"label": "Absent proximal phalanx of thumb",
"logical_definition": null,
"original_id": "HP:0009637",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheProximalPhalanxOfTheThumb"
},
{
"predicate": "subClassOf",
"target": "PartialAbsenceOfThumb"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheMiddlePhalanxOfTheHand"
}
]
}
| 0 |
{
"document": "Absent proximal phalanx of thumb Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheProximalPhalanxOfTheThumb'}, {'predicate': 'subClassOf', 'target': 'PartialAbsenceOfThumb'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheMiddlePhalanxOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of the proximal radial epiphysis.",
"id": "AbsentProximalRadialEpiphyses",
"label": "Absent proximal radial epiphyses",
"logical_definition": null,
"original_id": "HP:0005093",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphyses"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheProximalRadialEpiphysis"
}
]
}
| 0 |
{
"document": "Absent proximal radial epiphyses Absence of the proximal radial epiphysis. [{'predicate': 'subClassOf', 'target': 'AbsentEpiphyses'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheProximalRadialEpiphysis'}]"
}
|
{
"aliases": null,
"definition": "The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.",
"id": "AbsentPubertalGrowthSpurt",
"label": "Absent pubertal growth spurt",
"logical_definition": null,
"original_id": "HP:0031087",
"relationships": [
{
"predicate": "subClassOf",
"target": "GrowthDelay"
}
]
}
| 0 |
{
"document": "Absent pubertal growth spurt The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. [{'predicate': 'subClassOf', 'target': 'GrowthDelay'}]"
}
|
{
"aliases": null,
"definition": "Absence of pubic hair.",
"id": "AbsentPubicHair",
"label": "Absent pubic hair",
"logical_definition": null,
"original_id": "HP:0002555",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentHair"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfThePubicHair"
}
]
}
| 0 |
{
"document": "Absent pubic hair Absence of pubic hair. [{'predicate': 'subClassOf', 'target': 'AbsentHair'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfThePubicHair'}]"
}
|
{
"aliases": null,
"definition": "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.",
"id": "AbsentPulmonaryArtery",
"label": "Absent pulmonary artery",
"logical_definition": null,
"original_id": "HP:0004960",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPulmonaryArteryMorphology"
}
]
}
| 0 |
{
"document": "Absent pulmonary artery A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. [{'predicate': 'subClassOf', 'target': 'AbnormalPulmonaryArteryMorphology'}]"
}
|
{
"aliases": null,
"definition": "The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.",
"id": "AbsentPulse",
"label": "Absent pulse",
"logical_definition": null,
"original_id": "HP:0032554",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPulse"
}
]
}
| 0 |
{
"document": "Absent pulse The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. [{'predicate': 'subClassOf', 'target': 'AbnormalPulse'}]"
}
|
{
"aliases": null,
"definition": "Missing radius bone associated with congenital failure of development.",
"id": "AbsentRadius",
"label": "Absent radius",
"logical_definition": null,
"original_id": "HP:0003974",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentForearmBone"
},
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheRadius"
},
{
"predicate": "subClassOf",
"target": "AplasiaInvolvingForearmBones"
}
]
}
| 0 |
{
"document": "Absent radius Missing radius bone associated with congenital failure of development. [{'predicate': 'subClassOf', 'target': 'AbsentForearmBone'}, {'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheRadius'}, {'predicate': 'subClassOf', 'target': 'AplasiaInvolvingForearmBones'}]"
}
|
{
"aliases": null,
"definition": "The absence of all phalanges of a digit and the associated metacarpal /metatarsal.",
"id": "AbsentRay",
"label": "Absent ray",
"logical_definition": null,
"original_id": "HP:0030030",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfLimbBoneMorphology"
}
]
}
| 0 |
{
"document": "Absent ray The absence of all phalanges of a digit and the associated metacarpal /metatarsal. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfLimbBoneMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of the radial spokes of the axoneme of the respiratory cilium.",
"id": "AbsentRespiratoryCiliaryAxonemeRadialSpokes",
"label": "Absent respiratory ciliary axoneme radial spokes",
"logical_definition": null,
"original_id": "HP:0012267",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratoryMotileCiliumMorphology"
}
]
}
| 0 |
{
"document": "Absent respiratory ciliary axoneme radial spokes Absence of the radial spokes of the axoneme of the respiratory cilium. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratoryMotileCiliumMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentRetinalPigmentEpithelium",
"label": "Absent retinal pigment epithelium",
"logical_definition": null,
"original_id": "HP:0007980",
"relationships": [
{
"predicate": "subClassOf",
"target": "HypopigmentationOfTheFundus"
}
]
}
| 0 |
{
"document": "Absent retinal pigment epithelium None [{'predicate': 'subClassOf', 'target': 'HypopigmentationOfTheFundus'}]"
}
|
{
"aliases": null,
"definition": "A defect where there is no connection between the right atrium and right ventricle.",
"id": "AbsentRightSidedAtrioventricularConnection",
"label": "Absent right sided atrioventricular connection",
"logical_definition": null,
"original_id": "HP:0011548",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAtrioventricularConnection"
}
]
}
| 0 |
{
"document": "Absent right sided atrioventricular connection A defect where there is no connection between the right atrium and right ventricle. [{'predicate': 'subClassOf', 'target': 'AbnormalAtrioventricularConnection'}]"
}
|
{
"aliases": null,
"definition": "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.",
"id": "AbsentRightSuperiorVenaCava",
"label": "Absent right superior vena cava",
"logical_definition": null,
"original_id": "HP:0011666",
"relationships": [
{
"predicate": "subClassOf",
"target": "PersistentLeftSuperiorVenaCava"
}
]
}
| 0 |
{
"document": "Absent right superior vena cava Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. [{'predicate': 'subClassOf', 'target': 'PersistentLeftSuperiorVenaCava'}]"
}
|
{
"aliases": null,
"definition": "Congenital absence of the scaphoid..",
"id": "AbsentScaphoid",
"label": "Absent scaphoid",
"logical_definition": null,
"original_id": "HP:0011835",
"relationships": [
{
"predicate": "subClassOf",
"target": "CarpalBoneAplasia"
}
]
}
| 0 |
{
"document": "Absent scaphoid Congenital absence of the scaphoid.. [{'predicate': 'subClassOf', 'target': 'CarpalBoneAplasia'}]"
}
|
{
"aliases": null,
"definition": "Congenital absence of the scrotum.",
"id": "AbsentScrotum",
"label": "Absent scrotum",
"logical_definition": null,
"original_id": "HP:0008707",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheScrotum"
}
]
}
| 0 |
{
"document": "Absent scrotum Congenital absence of the scrotum. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheScrotum'}]"
}
|
{
"aliases": null,
"definition": "Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.",
"id": "AbsentSebaceousGlands",
"label": "Absent sebaceous glands",
"logical_definition": null,
"original_id": "HP:0410400",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSebaceousGlandMorphology"
}
]
}
| 0 |
{
"document": "Absent sebaceous glands Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. [{'predicate': 'subClassOf', 'target': 'AbnormalSebaceousGlandMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of the fingernail of the index (second) finger.",
"id": "AbsentSecondFingernail",
"label": "Absent second fingernail",
"logical_definition": null,
"original_id": "HP:0033975",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentFingernail"
}
]
}
| 0 |
{
"document": "Absent second fingernail Absence of the fingernail of the index (second) finger. [{'predicate': 'subClassOf', 'target': 'AbsentFingernail'}]"
}
|
{
"aliases": null,
"definition": "Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.",
"id": "AbsentSeptumPellucidum",
"label": "Absent septum pellucidum",
"logical_definition": null,
"original_id": "HP:0001331",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSeptumPellucidumMorphology"
}
]
}
| 0 |
{
"document": "Absent septum pellucidum Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. [{'predicate': 'subClassOf', 'target': 'AbnormalSeptumPellucidumMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentShortenedDyneinArms",
"label": "Absent/shortened dynein arms",
"logical_definition": null,
"original_id": "HP:0200106",
"relationships": [
{
"predicate": "subClassOf",
"target": "DyneinArmDefectOfRespiratoryMotileCilia"
}
]
}
| 0 |
{
"document": "Absent/shortened dynein arms None [{'predicate': 'subClassOf', 'target': 'DyneinArmDefectOfRespiratoryMotileCilia'}]"
}
|
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