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|---|---|---|
{
"aliases": null,
"definition": "Lack of subcutaneous adipose tissue.",
"id": "AbsenceOfSubcutaneousFat",
"label": "Absence of subcutaneous fat",
"logical_definition": null,
"original_id": "HP:0007485",
"relationships": [
{
"predicate": "subClassOf",
"target": "AdiposeTissueLoss"
}
]
}
| 0 |
{
"document": "Absence of subcutaneous fat Lack of subcutaneous adipose tissue. [{'predicate': 'subClassOf', 'target': 'AdiposeTissueLoss'}]"
}
|
{
"aliases": null,
"definition": "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.",
"id": "AbsenceOfThePulmonaryValve",
"label": "Absence of the pulmonary valve",
"logical_definition": null,
"original_id": "HP:0005134",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalPulmonaryValveMorphology"
}
]
}
| 0 |
{
"document": "Absence of the pulmonary valve Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. [{'predicate': 'subClassOf', 'target': 'AbnormalPulmonaryValveMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsenceOfTheReflexOfTheTensorTympaniMuscle",
"label": "Absence of the reflex of the tensor tympani muscle",
"logical_definition": null,
"original_id": "HP:0040114",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheReflexOfTheTensorTympaniMuscle"
}
]
}
| 0 |
{
"document": "Absence of the reflex of the tensor tympani muscle None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheReflexOfTheTensorTympaniMuscle'}]"
}
|
{
"aliases": null,
"definition": "Absence (aplasia) of the sacrum.",
"id": "AbsenceOfTheSacrum",
"label": "Absence of the sacrum",
"logical_definition": null,
"original_id": "HP:0010305",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheSacrum"
}
]
}
| 0 |
{
"document": "Absence of the sacrum Absence (aplasia) of the sacrum. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheSacrum'}]"
}
|
{
"aliases": null,
"definition": "A developmental defect characterized by the absence of the third ventricle.",
"id": "AbsenceOfTheThirdCerebralVentricle",
"label": "Absence of the third cerebral ventricle",
"logical_definition": null,
"original_id": "HP:0010661",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalThirdVentricleMorphology"
}
]
}
| 0 |
{
"document": "Absence of the third cerebral ventricle A developmental defect characterized by the absence of the third ventricle. [{'predicate': 'subClassOf', 'target': 'AbnormalThirdVentricleMorphology'}]"
}
|
{
"aliases": null,
"definition": "An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.",
"id": "AbsenceSeizureWithEyelidMyoclonia",
"label": "Absence seizure with eyelid myoclonia",
"logical_definition": null,
"original_id": "HP:0011149",
"relationships": [
{
"predicate": "subClassOf",
"target": "GeneralizedNonMotor_absence_seizure"
},
{
"predicate": "subClassOf",
"target": "EyelidMyocloniaSeizure"
}
]
}
| 0 |
{
"document": "Absence seizure with eyelid myoclonia An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. [{'predicate': 'subClassOf', 'target': 'GeneralizedNonMotor_absence_seizure'}, {'predicate': 'subClassOf', 'target': 'EyelidMyocloniaSeizure'}]"
}
|
{
"aliases": null,
"definition": "A quality denoting the lack of an entity.",
"id": "Absent",
"label": "absent",
"logical_definition": null,
"original_id": "PATO:0000462",
"relationships": [
{
"predicate": "ReciprocalOf",
"target": "LackingProcessualParts"
},
{
"predicate": "ReciprocalOf",
"target": "LacksAllPartsOfType"
},
{
"predicate": "subClassOf",
"target": "Amount"
}
]
}
| 0 |
{
"document": "absent A quality denoting the lack of an entity. [{'predicate': 'ReciprocalOf', 'target': 'LackingProcessualParts'}, {'predicate': 'ReciprocalOf', 'target': 'LacksAllPartsOfType'}, {'predicate': 'subClassOf', 'target': 'Amount'}]"
}
|
{
"aliases": null,
"definition": "Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.",
"id": "AbsentAbdominalReflex",
"label": "Absent abdominal reflex",
"logical_definition": null,
"original_id": "HP:0031827",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSuperficialReflex"
}
]
}
| 0 |
{
"document": "Absent abdominal reflex Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. [{'predicate': 'subClassOf', 'target': 'AbnormalSuperficialReflex'}]"
}
|
{
"aliases": null,
"definition": "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.",
"id": "AbsentAchillesReflex",
"label": "Absent Achilles reflex",
"logical_definition": null,
"original_id": "HP:0003438",
"relationships": [
{
"predicate": "subClassOf",
"target": "DecreasedAbsentAnkleReflexes"
}
]
}
| 0 |
{
"document": "Absent Achilles reflex Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. [{'predicate': 'subClassOf', 'target': 'DecreasedAbsentAnkleReflexes'}]"
}
|
{
"aliases": null,
"definition": "The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.",
"id": "AbsentAnklePulse",
"label": "Absent ankle pulse",
"logical_definition": null,
"original_id": "HP:0031271",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentPulse"
}
]
}
| 0 |
{
"document": "Absent ankle pulse The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. [{'predicate': 'subClassOf', 'target': 'AbsentPulse'}]"
}
|
{
"aliases": null,
"definition": "Absence of the anterior chamber of the eye owing to a developmental defect.",
"id": "AbsentAnteriorChamberOfTheEye",
"label": "Absent anterior chamber of the eye",
"logical_definition": null,
"original_id": "HP:0008037",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAnteriorChamberMorphology"
}
]
}
| 0 |
{
"document": "Absent anterior chamber of the eye Absence of the anterior chamber of the eye owing to a developmental defect. [{'predicate': 'subClassOf', 'target': 'AbnormalAnteriorChamberMorphology'}]"
}
|
{
"aliases": null,
"definition": "No discernible ridge between concha and triangular fossa and helix.",
"id": "AbsentAntihelix",
"label": "Absent antihelix",
"logical_definition": null,
"original_id": "HP:0011234",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAntihelixMorphology"
}
]
}
| 0 |
{
"document": "Absent antihelix No discernible ridge between concha and triangular fossa and helix. [{'predicate': 'subClassOf', 'target': 'AbnormalAntihelixMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.",
"id": "AbsentAntitragus",
"label": "Absent antitragus",
"logical_definition": null,
"original_id": "HP:0011249",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAntitragusMorphology"
}
]
}
| 0 |
{
"document": "Absent antitragus Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [{'predicate': 'subClassOf', 'target': 'AbnormalAntitragusMorphology'}]"
}
|
{
"aliases": null,
"definition": "A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.",
"id": "AbsentAorticValveCusps",
"label": "Absent aortic valve cusps",
"logical_definition": null,
"original_id": "HP:0031569",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAorticValveCuspMorphology"
}
]
}
| 0 |
{
"document": "Absent aortic valve cusps A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. [{'predicate': 'subClassOf', 'target': 'AbnormalAorticValveCuspMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentAtrioventricularNode",
"label": "Absent atrioventricular node",
"logical_definition": null,
"original_id": "HP:0006681",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtrioventricularBlock"
}
]
}
| 0 |
{
"document": "Absent atrioventricular node None [{'predicate': 'subClassOf', 'target': 'AtrioventricularBlock'}]"
}
|
{
"aliases": null,
"definition": "Absence of axillary hair.",
"id": "AbsentAxillaryHair",
"label": "Absent axillary hair",
"logical_definition": null,
"original_id": "HP:0002221",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentHair"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheAxillaryHair"
}
]
}
| 0 |
{
"document": "Absent axillary hair Absence of axillary hair. [{'predicate': 'subClassOf', 'target': 'AbsentHair'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheAxillaryHair'}]"
}
|
{
"aliases": null,
"definition": "Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.",
"id": "AbsentBirbeckGranulesInLangerhansCells",
"label": "Absent Birbeck granules in Langerhans cells",
"logical_definition": null,
"original_id": "HP:0031872",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLangerhansCellMorphology"
}
]
}
| 0 |
{
"document": "Absent Birbeck granules in Langerhans cells Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. [{'predicate': 'subClassOf', 'target': 'AbnormalLangerhansCellMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of measurable response to stimulation of auditory evoked potentials.",
"id": "AbsentBrainstemAuditoryResponses",
"label": "Absent brainstem auditory responses",
"logical_definition": null,
"original_id": "HP:0004463",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAuditoryEvokedPotentials"
}
]
}
| 0 |
{
"document": "Absent brainstem auditory responses Lack of measurable response to stimulation of auditory evoked potentials. [{'predicate': 'subClassOf', 'target': 'AbnormalAuditoryEvokedPotentials'}]"
}
|
{
"aliases": null,
"definition": "Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.",
"id": "AbsentBronchoalveolarDimericSurfactantProteinB",
"label": "Absent bronchoalveolar dimeric surfactant-protein B",
"logical_definition": null,
"original_id": "HP:0032981",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBronchoalveolarFluidProteinLevel"
}
]
}
| 0 |
{
"document": "Absent bronchoalveolar dimeric surfactant-protein B Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. [{'predicate': 'subClassOf', 'target': 'AbnormalBronchoalveolarFluidProteinLevel'}]"
}
|
{
"aliases": null,
"definition": "Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.",
"id": "AbsentBronchoalveolarSurfactantProteinC",
"label": "Absent bronchoalveolar surfactant-protein C",
"logical_definition": null,
"original_id": "HP:0032980",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBronchoalveolarFluidProteinLevel"
}
]
}
| 0 |
{
"document": "Absent bronchoalveolar surfactant-protein C Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. [{'predicate': 'subClassOf', 'target': 'AbnormalBronchoalveolarFluidProteinLevel'}]"
}
|
{
"aliases": null,
"definition": "The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.",
"id": "AbsentCavumSeptumPellucidum",
"label": "Absent cavum septum pellucidum",
"logical_definition": null,
"original_id": "HP:4000138",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSeptumPellucidumMorphology"
},
{
"predicate": "subClassOf",
"target": "AbnormalFetalCentralNervousSystemMorphology"
}
]
}
| 0 |
{
"document": "Absent cavum septum pellucidum The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding. [{'predicate': 'subClassOf', 'target': 'AbnormalSeptumPellucidumMorphology'}, {'predicate': 'subClassOf', 'target': 'AbnormalFetalCentralNervousSystemMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.",
"id": "AbsentCentralMicrotubularPairMorphologyOfRespiratoryMotileCilia",
"label": "Absent central microtubular pair morphology of respiratory motile cilia",
"logical_definition": null,
"original_id": "HP:0012264",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalRespiratoryMotileCiliumMorphology"
}
]
}
| 0 |
{
"document": "Absent central microtubular pair morphology of respiratory motile cilia Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. [{'predicate': 'subClassOf', 'target': 'AbnormalRespiratoryMotileCiliumMorphology'}]"
}
|
{
"aliases": null,
"definition": "A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.",
"id": "AbsentCervicalVertebra",
"label": "Absent cervical vertebra",
"logical_definition": null,
"original_id": "HP:0031175",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentVertebra"
}
]
}
| 0 |
{
"document": "Absent cervical vertebra A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. [{'predicate': 'subClassOf', 'target': 'AbsentVertebra'}]"
}
|
{
"aliases": null,
"definition": "Complete lack of mature B cells, that is, of B cells that have left the bone marrow.",
"id": "AbsentCirculatingBCells",
"label": "Absent circulating B cells",
"logical_definition": null,
"original_id": "HP:0030252",
"relationships": [
{
"predicate": "subClassOf",
"target": "BLymphocytopenia"
}
]
}
| 0 |
{
"document": "Absent circulating B cells Complete lack of mature B cells, that is, of B cells that have left the bone marrow. [{'predicate': 'subClassOf', 'target': 'BLymphocytopenia'}]"
}
|
{
"aliases": null,
"definition": "Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.",
"id": "AbsentCornealReflex",
"label": "Absent corneal reflex",
"logical_definition": null,
"original_id": "HP:0034252",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCornealReflex"
}
]
}
| 0 |
{
"document": "Absent corneal reflex Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. [{'predicate': 'subClassOf', 'target': 'AbnormalCornealReflex'}]"
}
|
{
"aliases": null,
"definition": "A developmental defect in which the coronary sinus fails to form.",
"id": "AbsentCoronarySinus",
"label": "Absent coronary sinus",
"logical_definition": null,
"original_id": "HP:0031783",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCoronarySinusMorphology"
}
]
}
| 0 |
{
"document": "Absent coronary sinus A developmental defect in which the coronary sinus fails to form. [{'predicate': 'subClassOf', 'target': 'AbnormalCoronarySinusMorphology'}]"
}
|
{
"aliases": null,
"definition": "Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.",
"id": "AbsentCremasterReflex",
"label": "Absent cremaster reflex",
"logical_definition": null,
"original_id": "HP:0031829",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalSuperficialReflex"
}
]
}
| 0 |
{
"document": "Absent cremaster reflex Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. [{'predicate': 'subClassOf', 'target': 'AbnormalSuperficialReflex'}]"
}
|
{
"aliases": null,
"definition": "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.",
"id": "AbsentCrusOfHelix",
"label": "Absent crus of helix",
"logical_definition": null,
"original_id": "HP:0011255",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheCrusOfTheHelix"
}
]
}
| 0 |
{
"document": "Absent crus of helix Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheCrusOfTheHelix'}]"
}
|
{
"aliases": null,
"definition": "Lack of paramedian peaks and median notch of the upper lip vermilion.",
"id": "AbsentCupidSBow",
"label": "Absent cupid's bow",
"logical_definition": null,
"original_id": "HP:0010800",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfUpperLipVermillion"
}
]
}
| 0 |
{
"document": "Absent cupid's bow Lack of paramedian peaks and median notch of the upper lip vermilion. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfUpperLipVermillion'}]"
}
|
{
"aliases": null,
"definition": "Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.",
"id": "AbsentDermoepidermalHemidesmosomes",
"label": "Absent dermoepidermal hemidesmosomes",
"logical_definition": null,
"original_id": "HP:0034256",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalDermoepidermalHemidesmosomeMorphology"
}
]
}
| 0 |
{
"document": "Absent dermoepidermal hemidesmosomes Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. [{'predicate': 'subClassOf', 'target': 'AbnormalDermoepidermalHemidesmosomeMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of the distal interphalangeal flexion creases of the fingers.",
"id": "AbsentDistalInterphalangealCreases",
"label": "Absent distal interphalangeal creases",
"logical_definition": null,
"original_id": "HP:0001032",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentPhalangealCrease"
}
]
}
| 0 |
{
"document": "Absent distal interphalangeal creases Absence of the distal interphalangeal flexion creases of the fingers. [{'predicate': 'subClassOf', 'target': 'AbsentPhalangealCrease'}]"
}
|
{
"aliases": null,
"definition": "Aplasia (absence) of the distal phalanges.",
"id": "AbsentDistalPhalanges",
"label": "Absent distal phalanges",
"logical_definition": null,
"original_id": "HP:0005807",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheDistalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent distal phalanges Aplasia (absence) of the distal phalanges. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheDistalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of distal phalanx of the second toe as a result of developmental aplasia.",
"id": "AbsentDistalPhalanxOfThe2ndToe",
"label": "Absent distal phalanx of the 2nd toe",
"logical_definition": null,
"original_id": "HP:0010432",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheDistalPhalanxOfThe2ndToe"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfThePhalangesOfThe2ndToe"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfTheDistalPhalangesOfTheToes"
}
]
}
| 0 |
{
"document": "Absent distal phalanx of the 2nd toe Absence of distal phalanx of the second toe as a result of developmental aplasia. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheDistalPhalanxOfThe2ndToe'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfThePhalangesOfThe2ndToe'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfTheDistalPhalangesOfTheToes'}]"
}
|
{
"aliases": null,
"definition": "Developmental aplasia of the distal phalanx of third toe.",
"id": "AbsentDistalPhalanxOfThe3rdToe",
"label": "Absent distal phalanx of the 3rd toe",
"logical_definition": null,
"original_id": "HP:0100378",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaOfTheDistalPhalangesOfTheToes"
},
{
"predicate": "subClassOf",
"target": "AplasiaOfThePhalangesOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheDistalPhalanxOfThe3rdToe"
}
]
}
| 0 |
{
"document": "Absent distal phalanx of the 3rd toe Developmental aplasia of the distal phalanx of third toe. [{'predicate': 'subClassOf', 'target': 'AplasiaOfTheDistalPhalangesOfTheToes'}, {'predicate': 'subClassOf', 'target': 'AplasiaOfThePhalangesOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheDistalPhalanxOfThe3rdToe'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentDorsalSkinCreasesOverAffectedJoints",
"label": "Absent dorsal skin creases over affected joints",
"logical_definition": null,
"original_id": "HP:0001049",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFingerFlexionCrease"
}
]
}
| 0 |
{
"document": "Absent dorsal skin creases over affected joints None [{'predicate': 'subClassOf', 'target': 'AbnormalFingerFlexionCrease'}]"
}
|
{
"aliases": null,
"definition": "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.",
"id": "AbsentEarlobe",
"label": "Absent earlobe",
"logical_definition": null,
"original_id": "HP:0000387",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheEarlobes"
}
]
}
| 0 |
{
"document": "Absent earlobe Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheEarlobes'}]"
}
|
{
"aliases": null,
"definition": "An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.",
"id": "AbsentEndDiastolicUmbilicalArteryFlow",
"label": "Absent end-diastolic umbilical artery flow",
"logical_definition": null,
"original_id": "HP:0034224",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalUmbilicalArteryDopplerWaveformDuringPregnancy"
}
]
}
| 0 |
{
"document": "Absent end-diastolic umbilical artery flow An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole. [{'predicate': 'subClassOf', 'target': 'AbnormalUmbilicalArteryDopplerWaveformDuringPregnancy'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpididymidis",
"label": "Absent epididymidis",
"logical_definition": null,
"original_id": "HP:0034480",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEpididymisMorphology"
}
]
}
| 0 |
{
"document": "Absent epididymidis None [{'predicate': 'subClassOf', 'target': 'AbnormalEpididymisMorphology'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphyses",
"label": "Absent epiphyses",
"logical_definition": null,
"original_id": "HP:0010577",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEpiphysisMorphology"
}
]
}
| 0 |
{
"document": "Absent epiphyses None [{'predicate': 'subClassOf', 'target': 'AbnormalEpiphysisMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphyses of the 2nd finger.",
"id": "AbsentEpiphysesOfThe2ndFinger",
"label": "Absent epiphyses of the 2nd finger",
"logical_definition": null,
"original_id": "HP:0009488",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 2nd finger Absence of the epiphyses of the 2nd finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysesOfThe2ndToe",
"label": "Absent epiphyses of the 2nd toe",
"logical_definition": null,
"original_id": "HP:0100044",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheToes"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe2ndToe"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 2nd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheToes'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe2ndToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphyses of the 3rd finger.",
"id": "AbsentEpiphysesOfThe3rdFinger",
"label": "Absent epiphyses of the 3rd finger",
"logical_definition": null,
"original_id": "HP:0009410",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 3rd finger Absence of the epiphyses of the 3rd finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysesOfThe3rdToe",
"label": "Absent epiphyses of the 3rd toe",
"logical_definition": null,
"original_id": "HP:0100055",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheToes"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe3rdToe"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 3rd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheToes'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe3rdToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of one or more epiphyses of the 4th finger.",
"id": "AbsentEpiphysesOfThe4thFinger",
"label": "Absent epiphyses of the 4th finger",
"logical_definition": null,
"original_id": "HP:0009393",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 4th finger Absence of one or more epiphyses of the 4th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysesOfThe4thToe",
"label": "Absent epiphyses of the 4th toe",
"logical_definition": null,
"original_id": "HP:0100066",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheToes"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe4thToe"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 4th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheToes'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe4thToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of one or more epiphyses of the 5th finger.",
"id": "AbsentEpiphysesOfThe5thFinger",
"label": "Absent epiphyses of the 5th finger",
"logical_definition": null,
"original_id": "HP:0009382",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 5th finger Absence of one or more epiphyses of the 5th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysesOfThe5thToe",
"label": "Absent epiphyses of the 5th toe",
"logical_definition": null,
"original_id": "HP:0100077",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheToes"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfThe5thToe"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the 5th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheToes'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfThe5thToe'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysesOfTheDistalPhalangesOfTheHand",
"label": "Absent epiphyses of the distal phalanges of the hand",
"logical_definition": null,
"original_id": "HP:0010246",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfTheDistalPhalanxOfFinger"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the distal phalanges of the hand None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfTheDistalPhalanxOfFinger'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysesOfTheMiddlePhalangesOfTheHand",
"label": "Absent epiphyses of the middle phalanges of the hand",
"logical_definition": null,
"original_id": "HP:0010257",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfTheMiddlePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the middle phalanges of the hand None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfTheMiddlePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of one or more epiphyses of the phalanges of the fingers.",
"id": "AbsentEpiphysesOfThePhalangesOfTheHand",
"label": "Absent epiphyses of the phalanges of the hand",
"logical_definition": null,
"original_id": "HP:0010228",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalEpiphysisMorphologyOfThePhalangesOfTheHand"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphyses"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the phalanges of the hand Absence of one or more epiphyses of the phalanges of the fingers. [{'predicate': 'subClassOf', 'target': 'AbnormalEpiphysisMorphologyOfThePhalangesOfTheHand'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphyses'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysesOfTheProximalPhalangesOfTheHand",
"label": "Absent epiphyses of the proximal phalanges of the hand",
"logical_definition": null,
"original_id": "HP:0010268",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysesOfTheProximalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the proximal phalanges of the hand None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysesOfTheProximalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of one or more epiphyses of the thumb.",
"id": "AbsentEpiphysesOfTheThumb",
"label": "Absent epiphyses of the thumb",
"logical_definition": null,
"original_id": "HP:0009686",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfThumbEpiphysis"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the thumb Absence of one or more epiphyses of the thumb. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfThumbEpiphysis'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphyses of the phalanges of the toes.",
"id": "AbsentEpiphysesOfTheToes",
"label": "Absent epiphyses of the toes",
"logical_definition": null,
"original_id": "HP:0010162",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalToeEpiphysisMorphology"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphyses"
}
]
}
| 0 |
{
"document": "Absent epiphyses of the toes Absence of the epiphyses of the phalanges of the toes. [{'predicate': 'subClassOf', 'target': 'AbnormalToeEpiphysisMorphology'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphyses'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfThe1stMetacarpal",
"label": "Absent epiphysis of the 1st metacarpal",
"logical_definition": null,
"original_id": "HP:0010015",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentMetacarpalEpiphyses"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfThe1stMetacarpal"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheProximalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the 1st metacarpal None [{'predicate': 'subClassOf', 'target': 'AbsentMetacarpalEpiphyses'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfThe1stMetacarpal'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheProximalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Failure to form (agenesis) of the epiphysis of the 1st metatarsal.",
"id": "AbsentEpiphysisOfThe1stMetatarsal",
"label": "Absent epiphysis of the 1st metatarsal",
"logical_definition": null,
"original_id": "HP:0010149",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfThe1stMetatarsal"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the 1st metatarsal Failure to form (agenesis) of the epiphysis of the 1st metatarsal. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfThe1stMetatarsal'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.",
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe2ndFinger",
"label": "Absent epiphysis of the distal phalanx of the 2nd finger",
"logical_definition": null,
"original_id": "HP:0009502",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheDistalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 2nd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheDistalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe2ndToe",
"label": "Absent epiphysis of the distal phalanx of the 2nd toe",
"logical_definition": null,
"original_id": "HP:0100100",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe2ndToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe2ndToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 2nd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe2ndToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe2ndToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.",
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe3rdFinger",
"label": "Absent epiphysis of the distal phalanx of the 3rd finger",
"logical_definition": null,
"original_id": "HP:0009335",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheDistalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheDistalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe3rdToe",
"label": "Absent epiphysis of the distal phalanx of the 3rd toe",
"logical_definition": null,
"original_id": "HP:0100135",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe3rdToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 3rd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe3rdToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.",
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe4thFinger",
"label": "Absent epiphysis of the distal phalanx of the 4th finger",
"logical_definition": null,
"original_id": "HP:0009250",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheDistalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheDistalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe4thToe",
"label": "Absent epiphysis of the distal phalanx of the 4th toe",
"logical_definition": null,
"original_id": "HP:0100169",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe4thToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe4thToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 4th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe4thToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe4thToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.",
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe5thFinger",
"label": "Absent epiphysis of the distal phalanx of the 5th finger",
"logical_definition": null,
"original_id": "HP:0003696",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheDistalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheDistalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheDistalPhalanxOfThe5thToe",
"label": "Absent epiphysis of the distal phalanx of the 5th toe",
"logical_definition": null,
"original_id": "HP:0100202",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe5thToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe5thToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the 5th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe5thToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfThe5thToe'}]"
}
|
{
"aliases": null,
"definition": "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.",
"id": "AbsentEpiphysisOfTheDistalPhalanxOfTheHallux",
"label": "Absent epiphysis of the distal phalanx of the hallux",
"logical_definition": null,
"original_id": "HP:0010138",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentHalluxEpiphysis"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfTheHallux"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. [{'predicate': 'subClassOf', 'target': 'AbsentHalluxEpiphysis'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfTheHallux'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.",
"id": "AbsentEpiphysisOfTheDistalPhalanxOfTheThumb",
"label": "Absent epiphysis of the distal phalanx of the thumb",
"logical_definition": null,
"original_id": "HP:0009675",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfTheThumb"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheThumb"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheDistalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the distal phalanx of the thumb Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheDistalPhalanxOfTheThumb'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheThumb'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheDistalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe2ndFinger",
"label": "Absent epiphysis of the middle phalanx of the 2nd finger",
"logical_definition": null,
"original_id": "HP:0009513",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheMiddlePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 2nd finger None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheMiddlePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe2ndToe",
"label": "Absent epiphysis of the middle phalanx of the 2nd toe",
"logical_definition": null,
"original_id": "HP:0100111",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe2ndToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe2ndToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 2nd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe2ndToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe2ndToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.",
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe3rdFinger",
"label": "Absent epiphysis of the middle phalanx of the 3rd finger",
"logical_definition": null,
"original_id": "HP:0009321",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheMiddlePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheMiddlePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe3rdToe",
"label": "Absent epiphysis of the middle phalanx of the 3rd toe",
"logical_definition": null,
"original_id": "HP:0100146",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe3rdToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 3rd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe3rdToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.",
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe4thFinger",
"label": "Absent epiphysis of the middle phalanx of the 4th finger",
"logical_definition": null,
"original_id": "HP:0009214",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheMiddlePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheMiddlePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe4thToe",
"label": "Absent epiphysis of the middle phalanx of the 4th toe",
"logical_definition": null,
"original_id": "HP:0100180",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe4thToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe4thToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 4th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe4thToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe4thToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.",
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe5thFinger",
"label": "Absent epiphysis of the middle phalanx of the 5th finger",
"logical_definition": null,
"original_id": "HP:0009203",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheMiddlePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheMiddlePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheMiddlePhalanxOfThe5thToe",
"label": "Absent epiphysis of the middle phalanx of the 5th toe",
"logical_definition": null,
"original_id": "HP:0100213",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe5thToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe5thToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the middle phalanx of the 5th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe5thToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheMiddlePhalanxOfThe5thToe'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe2ndFinger",
"label": "Absent epiphysis of the proximal phalanx of the 2nd finger",
"logical_definition": null,
"original_id": "HP:0009524",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe2ndFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheProximalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 2nd finger None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe2ndFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheProximalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe2ndToe",
"label": "Absent epiphysis of the proximal phalanx of the 2nd toe",
"logical_definition": null,
"original_id": "HP:0100122",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe2ndToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe2ndToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 2nd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe2ndToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe2ndToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.",
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe3rdFinger",
"label": "Absent epiphysis of the proximal phalanx of the 3rd finger",
"logical_definition": null,
"original_id": "HP:0009346",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe3rdFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheProximalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe3rdFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheProximalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe3rdToe",
"label": "Absent epiphysis of the proximal phalanx of the 3rd toe",
"logical_definition": null,
"original_id": "HP:0100157",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe3rdToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe3rdToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 3rd toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe3rdToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe3rdToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.",
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe4thFinger",
"label": "Absent epiphysis of the proximal phalanx of the 4th finger",
"logical_definition": null,
"original_id": "HP:0009261",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe4thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheProximalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe4thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheProximalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe4thToe",
"label": "Absent epiphysis of the proximal phalanx of the 4th toe",
"logical_definition": null,
"original_id": "HP:0100191",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe4thToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe4thToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 4th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe4thToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe4thToe'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.",
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe5thFinger",
"label": "Absent epiphysis of the proximal phalanx of the 5th finger",
"logical_definition": null,
"original_id": "HP:0009160",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe5thFinger"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheProximalPhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe5thFinger'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheProximalPhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentEpiphysisOfTheProximalPhalanxOfThe5thToe",
"label": "Absent epiphysis of the proximal phalanx of the 5th toe",
"logical_definition": null,
"original_id": "HP:0100224",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfThe5thToe"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe5thToe"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the 5th toe None [{'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfThe5thToe'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfThe5thToe'}]"
}
|
{
"aliases": null,
"definition": "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.",
"id": "AbsentEpiphysisOfTheProximalPhalanxOfTheHallux",
"label": "Absent epiphysis of the proximal phalanx of the hallux",
"logical_definition": null,
"original_id": "HP:0010127",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentHalluxEpiphysis"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfTheHallux"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. [{'predicate': 'subClassOf', 'target': 'AbsentHalluxEpiphysis'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfTheHallux'}]"
}
|
{
"aliases": null,
"definition": "Absence of the epiphysis located at the proximal end 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": "AbsentEpiphysisOfTheProximalPhalanxOfTheThumb",
"label": "Absent epiphysis of the proximal phalanx of the thumb",
"logical_definition": null,
"original_id": "HP:0009664",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfTheThumb"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheThumb"
},
{
"predicate": "subClassOf",
"target": "AbsentEpiphysesOfTheMiddlePhalangesOfTheHand"
}
]
}
| 0 |
{
"document": "Absent epiphysis of the proximal phalanx of the thumb Absence of the epiphysis located at the proximal end 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': 'AbnormalityOfTheEpiphysisOfTheProximalPhalanxOfTheThumb'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheThumb'}, {'predicate': 'subClassOf', 'target': 'AbsentEpiphysesOfTheMiddlePhalangesOfTheHand'}]"
}
|
{
"aliases": null,
"definition": "Lack (aplasia) of the ethmoidal sinus.",
"id": "AbsentEthmoidalSinuses",
"label": "Absent ethmoidal sinuses",
"logical_definition": null,
"original_id": "HP:0005456",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentParanasalSinuses"
},
{
"predicate": "subClassOf",
"target": "AbnormalityOfEthmoidSinus"
}
]
}
| 0 |
{
"document": "Absent ethmoidal sinuses Lack (aplasia) of the ethmoidal sinus. [{'predicate': 'subClassOf', 'target': 'AbsentParanasalSinuses'}, {'predicate': 'subClassOf', 'target': 'AbnormalityOfEthmoidSinus'}]"
}
|
{
"aliases": null,
"definition": "Lack of external genitalia in a male or female individual.",
"id": "AbsentExternalGenitalia",
"label": "Absent external genitalia",
"logical_definition": null,
"original_id": "HP:0000042",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalExternalGenitalia"
}
]
}
| 0 |
{
"document": "Absent external genitalia Lack of external genitalia in a male or female individual. [{'predicate': 'subClassOf', 'target': 'AbnormalExternalGenitalia'}]"
}
|
{
"aliases": null,
"definition": "Congenital absence of the extraocular muscles.",
"id": "AbsentExtraocularMuscles",
"label": "Absent extraocular muscles",
"logical_definition": null,
"original_id": "HP:0007886",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfTheExtraocularMuscles"
}
]
}
| 0 |
{
"document": "Absent extraocular muscles Congenital absence of the extraocular muscles. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfTheExtraocularMuscles'}]"
}
|
{
"aliases": null,
"definition": "Absence of the eyebrow.",
"id": "AbsentEyebrow",
"label": "Absent eyebrow",
"logical_definition": null,
"original_id": "HP:0002223",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentHair"
},
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfTheEyebrow"
}
]
}
| 0 |
{
"document": "Absent eyebrow Absence of the eyebrow. [{'predicate': 'subClassOf', 'target': 'AbsentHair'}, {'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfTheEyebrow'}]"
}
|
{
"aliases": null,
"definition": "Lack of eyelashes.",
"id": "AbsentEyelashes",
"label": "Absent eyelashes",
"logical_definition": null,
"original_id": "HP:0000561",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentFacialHair"
},
{
"predicate": "subClassOf",
"target": "SparseOrAbsentEyelashes"
}
]
}
| 0 |
{
"document": "Absent eyelashes Lack of eyelashes. [{'predicate': 'subClassOf', 'target': 'AbsentFacialHair'}, {'predicate': 'subClassOf', 'target': 'SparseOrAbsentEyelashes'}]"
}
|
{
"aliases": null,
"definition": "Absence of facial hair.",
"id": "AbsentFacialHair",
"label": "Absent facial hair",
"logical_definition": null,
"original_id": "HP:0002550",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentHair"
}
]
}
| 0 |
{
"document": "Absent facial hair Absence of facial hair. [{'predicate': 'subClassOf', 'target': 'AbsentHair'}]"
}
|
{
"aliases": null,
"definition": "The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.",
"id": "AbsentFetalNasalBone",
"label": "Absent fetal nasal bone",
"logical_definition": null,
"original_id": "HP:0025706",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalNasalBoneVisualization"
}
]
}
| 0 |
{
"document": "Absent fetal nasal bone The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalNasalBoneVisualization'}]"
}
|
{
"aliases": null,
"definition": "Absence of nail of little finger.",
"id": "AbsentFifthFingernail",
"label": "Absent fifth fingernail",
"logical_definition": null,
"original_id": "HP:0200104",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentFingernail"
}
]
}
| 0 |
{
"document": "Absent fifth fingernail Absence of nail of little finger. [{'predicate': 'subClassOf', 'target': 'AbsentFingernail'}]"
}
|
{
"aliases": null,
"definition": "A developmental abnormality characterized by the absence of the fifth metatarsal bone.",
"id": "AbsentFifthMetatarsal",
"label": "Absent fifth metatarsal",
"logical_definition": null,
"original_id": "HP:0008079",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentMetatarsalBone"
}
]
}
| 0 |
{
"document": "Absent fifth metatarsal A developmental abnormality characterized by the absence of the fifth metatarsal bone. [{'predicate': 'subClassOf', 'target': 'AbsentMetatarsalBone'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentFifthToenail",
"label": "Absent fifth toenail",
"logical_definition": null,
"original_id": "HP:0200105",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentToenail"
}
]
}
| 0 |
{
"document": "Absent fifth toenail None [{'predicate': 'subClassOf', 'target': 'AbsentToenail'}]"
}
|
{
"aliases": null,
"definition": "Absence of a fingernail.",
"id": "AbsentFingernail",
"label": "Absent fingernail",
"logical_definition": null,
"original_id": "HP:0001817",
"relationships": [
{
"predicate": "subClassOf",
"target": "Anonychia"
}
]
}
| 0 |
{
"document": "Absent fingernail Absence of a fingernail. [{'predicate': 'subClassOf', 'target': 'Anonychia'}]"
}
|
{
"aliases": null,
"definition": "A developmental defect characterized by the absence of the first metatarsal bone.",
"id": "AbsentFirstMetatarsal",
"label": "Absent first metatarsal",
"logical_definition": null,
"original_id": "HP:0010104",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaOfThe1stMetatarsal"
},
{
"predicate": "subClassOf",
"target": "AbsentMetatarsalBone"
}
]
}
| 0 |
{
"document": "Absent first metatarsal A developmental defect characterized by the absence of the first metatarsal bone. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaOfThe1stMetatarsal'}, {'predicate': 'subClassOf', 'target': 'AbsentMetatarsalBone'}]"
}
|
{
"aliases": null,
"definition": "The total absence of the foot, with no bony elements distal to the tibia or fibula.",
"id": "AbsentFoot",
"label": "Absent foot",
"logical_definition": null,
"original_id": "HP:0011301",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaInvolvingBonesOfTheFeet"
}
]
}
| 0 |
{
"document": "Absent foot The total absence of the foot, with no bony elements distal to the tibia or fibula. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaInvolvingBonesOfTheFeet'}]"
}
|
{
"aliases": null,
"definition": null,
"id": "AbsentForearm",
"label": "Absent forearm",
"logical_definition": null,
"original_id": "HP:0005632",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalForearmMorphology"
}
]
}
| 0 |
{
"document": "Absent forearm None [{'predicate': 'subClassOf', 'target': 'AbnormalForearmMorphology'}]"
}
|
{
"aliases": null,
"definition": "Absence of one or more forearm bones associated with congenital failure of development.",
"id": "AbsentForearmBone",
"label": "Absent forearm bone",
"logical_definition": null,
"original_id": "HP:0003953",
"relationships": [
{
"predicate": "subClassOf",
"target": "AplasiaHypoplasiaInvolvingForearmBones"
}
]
}
| 0 |
{
"document": "Absent forearm bone Absence of one or more forearm bones associated with congenital failure of development. [{'predicate': 'subClassOf', 'target': 'AplasiaHypoplasiaInvolvingForearmBones'}]"
}
|
{
"aliases": null,
"definition": "Absence of the distal interphalangeal flexion creases of the fourth finger.",
"id": "AbsentFourthFingerDistalInterphalangealCrease",
"label": "Absent fourth finger distal interphalangeal crease",
"logical_definition": null,
"original_id": "HP:0005780",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbsentDistalInterphalangealCreases"
}
]
}
| 0 |
{
"document": "Absent fourth finger distal interphalangeal crease Absence of the distal interphalangeal flexion creases of the fourth finger. [{'predicate': 'subClassOf', 'target': 'AbsentDistalInterphalangealCreases'}]"
}
|
{
"aliases": null,
"definition": "Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.",
"id": "AbsentFovealReflex",
"label": "Absent foveal reflex",
"logical_definition": null,
"original_id": "HP:0030825",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFovealMorphology"
}
]
}
| 0 |
{
"document": "Absent foveal reflex Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. [{'predicate': 'subClassOf', 'target': 'AbnormalFovealMorphology'}]"
}
|
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