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{
"aliases": null,
"definition": "Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.",
"id": "TubulointerstitialMicroganismalInfiltration",
"label": "Tubulointerstitial microganismal infiltration",
"logical_definition": null,
"original_id": "HP:0032635",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTubulointerstitialMorphology"
}
]
} | 0 | {
"document": "Tubulointerstitial microganismal infiltration Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. [{'predicate': 'subClassOf', 'target': 'AbnormalTubulointerstitialMorphology'}]"
} |
{
"aliases": null,
"definition": "Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.",
"id": "TubulointerstitialMycobacterialInfiltration",
"label": "Tubulointerstitial mycobacterial infiltration",
"logical_definition": null,
"original_id": "HP:0032610",
"relationships": [
{
"predicate": "subClassOf",
"target": "TubulointerstitialMicroganismalInfiltration"
}
]
} | 0 | {
"document": "Tubulointerstitial mycobacterial infiltration Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. [{'predicate': 'subClassOf', 'target': 'TubulointerstitialMicroganismalInfiltration'}]"
} |
{
"aliases": null,
"definition": "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.",
"id": "TubulointerstitialNephritis",
"label": "Tubulointerstitial nephritis",
"logical_definition": null,
"original_id": "HP:0001970",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTubulointerstitialMorphology"
}
]
} | 0 | {
"document": "Tubulointerstitial nephritis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [{'predicate': 'subClassOf', 'target': 'AbnormalTubulointerstitialMorphology'}]"
} |
{
"aliases": null,
"definition": "Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.",
"id": "TubulointerstitialViralInfiltration",
"label": "Tubulointerstitial viral infiltration",
"logical_definition": null,
"original_id": "HP:0032636",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTubulointerstitialMorphology"
}
]
} | 0 | {
"document": "Tubulointerstitial viral infiltration Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. [{'predicate': 'subClassOf', 'target': 'AbnormalTubulointerstitialMorphology'}]"
} |
{
"aliases": null,
"definition": "A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.",
"id": "TubulonodularPericallosalLipoma",
"label": "Tubulonodular pericallosal lipoma",
"logical_definition": null,
"original_id": "HP:0034014",
"relationships": [
{
"predicate": "subClassOf",
"target": "PericallosalLipoma"
}
]
} | 0 | {
"document": "Tubulonodular pericallosal lipoma A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles. [{'predicate': 'subClassOf', 'target': 'PericallosalLipoma'}]"
} |
{
"aliases": null,
"definition": "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.",
"id": "TuftedAngioma",
"label": "Tufted angioma",
"logical_definition": null,
"original_id": "HP:0012329",
"relationships": [
{
"predicate": "subClassOf",
"target": "Hemangioma"
}
]
} | 0 | {
"document": "Tufted angioma A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. [{'predicate': 'subClassOf', 'target': 'Hemangioma'}]"
} |
{
"aliases": null,
"definition": "The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.",
"id": "TuftedHairs",
"label": "Tufted hairs",
"logical_definition": null,
"original_id": "HP:0031283",
"relationships": [
{
"predicate": "subClassOf",
"target": "AcquiredAbnormalHairPattern"
}
]
} | 0 | {
"document": "Tufted hairs The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. [{'predicate': 'subClassOf', 'target': 'AcquiredAbnormalHairPattern'}]"
} |
{
"aliases": null,
"definition": "A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof.",
"id": "TumorNecrosisFactorLigandSuperfamilyMember5",
"label": "tumor necrosis factor ligand superfamily member 5",
"logical_definition": null,
"original_id": "PR:000001950",
"relationships": [
{
"predicate": "subClassOf",
"target": "Protein_PR:000000001"
}
]
} | 0 | {
"document": "tumor necrosis factor ligand superfamily member 5 A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. [{'predicate': 'subClassOf', 'target': 'Protein_PR:000000001'}]"
} |
{
"aliases": null,
"definition": "A tumor necrosis factor ligand superfamily member 5 that has been processed by proteolytic cleavage.",
"id": "TumorNecrosisFactorLigandSuperfamilyMember5ProteolyticCleavageProduct",
"label": "tumor necrosis factor ligand superfamily member 5 proteolytic cleavage product",
"logical_definition": null,
"original_id": "PR:000018606",
"relationships": [
{
"predicate": "OutputOf",
"target": "ProteinProcessing"
},
{
"predicate": "subClassOf",
"target": "TumorNecrosisFactorLigandSuperfamilyMember5"
},
{
"predicate": "subClassOf",
"target": "ProteolyticCleavageProduct"
}
]
} | 0 | {
"document": "tumor necrosis factor ligand superfamily member 5 proteolytic cleavage product A tumor necrosis factor ligand superfamily member 5 that has been processed by proteolytic cleavage. [{'predicate': 'OutputOf', 'target': 'ProteinProcessing'}, {'predicate': 'subClassOf', 'target': 'TumorNecrosisFactorLigandSuperfamilyMember5'}, {'predicate': 'subClassOf', 'target': 'ProteolyticCleavageProduct'}]"
} |
{
"aliases": null,
"definition": "A tunica adventitia that is part of a artery.",
"id": "TunicaAdventitiaOfArtery",
"label": "tunica adventitia of artery",
"logical_definition": null,
"original_id": "UBERON:0007240",
"relationships": [
{
"predicate": "PartOf",
"target": "ArteryWall"
},
{
"predicate": "HasPart",
"target": "FibroblastOfTunicaAdventitiaOfArtery"
}
]
} | 0 | {
"document": "tunica adventitia of artery A tunica adventitia that is part of a artery. [{'predicate': 'PartOf', 'target': 'ArteryWall'}, {'predicate': 'HasPart', 'target': 'FibroblastOfTunicaAdventitiaOfArtery'}]"
} |
{
"aliases": null,
"definition": "The outermost layer of a blood vessel, composed mainly of fibrous tissue.",
"id": "TunicaAdventitiaOfBloodVessel",
"label": "tunica adventitia of blood vessel",
"logical_definition": null,
"original_id": "UBERON:0005734",
"relationships": [
{
"predicate": "HasQuality",
"target": "Collagenous"
},
{
"predicate": "ComposedPrimarilyOf",
"target": "FibrousConnectiveTissue"
},
{
"predicate": "subClassOf",
"target": "BloodVesselLayer"
},
{
"predicate": "subClassOf",
"target": "Adventitia"
}
]
} | 0 | {
"document": "tunica adventitia of blood vessel The outermost layer of a blood vessel, composed mainly of fibrous tissue. [{'predicate': 'HasQuality', 'target': 'Collagenous'}, {'predicate': 'ComposedPrimarilyOf', 'target': 'FibrousConnectiveTissue'}, {'predicate': 'subClassOf', 'target': 'BloodVesselLayer'}, {'predicate': 'subClassOf', 'target': 'Adventitia'}]"
} |
{
"aliases": null,
"definition": "A tunica adventitia that is part of a vein.",
"id": "TunicaAdventitiaOfVein",
"label": "tunica adventitia of vein",
"logical_definition": null,
"original_id": "UBERON:0007241",
"relationships": null
} | 0 | {
"document": "tunica adventitia of vein A tunica adventitia that is part of a vein. None"
} |
{
"aliases": null,
"definition": "The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth.",
"id": "TunicaFibrosaOfEyeball",
"label": "tunica fibrosa of eyeball",
"logical_definition": null,
"original_id": "UBERON:0012430",
"relationships": [
{
"predicate": "PartOf",
"target": "EyeballOfCameraTypeEye"
},
{
"predicate": "HasPart",
"target": "Cornea"
},
{
"predicate": "HasPart",
"target": "Sclera"
},
{
"predicate": "subClassOf",
"target": "OrganComponentLayer"
}
]
} | 0 | {
"document": "tunica fibrosa of eyeball The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. [{'predicate': 'PartOf', 'target': 'EyeballOfCameraTypeEye'}, {'predicate': 'HasPart', 'target': 'Cornea'}, {'predicate': 'HasPart', 'target': 'Sclera'}, {'predicate': 'subClassOf', 'target': 'OrganComponentLayer'}]"
} |
{
"aliases": null,
"definition": "The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong].",
"id": "TunicaIntima",
"label": "tunica intima",
"logical_definition": null,
"original_id": "UBERON:0002523",
"relationships": [
{
"predicate": "HasPart",
"target": "Endothelium"
},
{
"predicate": "SurroundedBy",
"target": "TunicaMedia"
},
{
"predicate": "AdjacentTo",
"target": "LumenOfBloodVessel"
},
{
"predicate": "subClassOf",
"target": "OrganComponentLayer"
}
]
} | 0 | {
"document": "tunica intima The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. [{'predicate': 'HasPart', 'target': 'Endothelium'}, {'predicate': 'SurroundedBy', 'target': 'TunicaMedia'}, {'predicate': 'AdjacentTo', 'target': 'LumenOfBloodVessel'}, {'predicate': 'subClassOf', 'target': 'OrganComponentLayer'}]"
} |
{
"aliases": null,
"definition": "A tunica intima that is part of a artery.",
"id": "TunicaIntimaOfArtery",
"label": "tunica intima of artery",
"logical_definition": null,
"original_id": "UBERON:0005740",
"relationships": [
{
"predicate": "PartOf",
"target": "ArteryWall"
}
]
} | 0 | {
"document": "tunica intima of artery A tunica intima that is part of a artery. [{'predicate': 'PartOf', 'target': 'ArteryWall'}]"
} |
{
"aliases": null,
"definition": "A tunica intima that is part of a vein.",
"id": "TunicaIntimaOfVein",
"label": "tunica intima of vein",
"logical_definition": null,
"original_id": "UBERON:0007242",
"relationships": null
} | 0 | {
"document": "tunica intima of vein A tunica intima that is part of a vein. None"
} |
{
"aliases": null,
"definition": "The middle layer of an artery or vein. [WP,unvetted].",
"id": "TunicaMedia",
"label": "tunica media",
"logical_definition": null,
"original_id": "UBERON:0002522",
"relationships": [
{
"predicate": "HasPart",
"target": "ElasticTissue"
},
{
"predicate": "HasPart",
"target": "BloodVesselSmoothMuscle"
},
{
"predicate": "SurroundedBy",
"target": "TunicaAdventitiaOfBloodVessel"
},
{
"predicate": "subClassOf",
"target": "BloodVesselLayer"
}
]
} | 0 | {
"document": "tunica media The middle layer of an artery or vein. [WP,unvetted]. [{'predicate': 'HasPart', 'target': 'ElasticTissue'}, {'predicate': 'HasPart', 'target': 'BloodVesselSmoothMuscle'}, {'predicate': 'SurroundedBy', 'target': 'TunicaAdventitiaOfBloodVessel'}, {'predicate': 'subClassOf', 'target': 'BloodVesselLayer'}]"
} |
{
"aliases": null,
"definition": "A tunica media that is part of a artery.",
"id": "TunicaMediaOfArtery",
"label": "tunica media of artery",
"logical_definition": null,
"original_id": "UBERON:0007239",
"relationships": [
{
"predicate": "PartOf",
"target": "ArteryWall"
}
]
} | 0 | {
"document": "tunica media of artery A tunica media that is part of a artery. [{'predicate': 'PartOf', 'target': 'ArteryWall'}]"
} |
{
"aliases": null,
"definition": "Tunica media of artery which is continuous with the myocardium of right ventricle.[FMA].",
"id": "TunicaMediaOfPulmonaryTrunk",
"label": "tunica media of pulmonary trunk",
"logical_definition": null,
"original_id": "UBERON:0006563",
"relationships": null
} | 0 | {
"document": "tunica media of pulmonary trunk Tunica media of artery which is continuous with the myocardium of right ventricle.[FMA]. None"
} |
{
"aliases": null,
"definition": "A tunica media that is part of a vein.",
"id": "TunicaMediaOfVein",
"label": "tunica media of vein",
"logical_definition": null,
"original_id": "UBERON:0007243",
"relationships": null
} | 0 | {
"document": "tunica media of vein A tunica media that is part of a vein. None"
} |
{
"aliases": null,
"definition": "Tall head relative to width and length.",
"id": "Turricephaly",
"label": "Turricephaly",
"logical_definition": null,
"original_id": "HP:0000262",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalCalvariaMorphology"
}
]
} | 0 | {
"document": "Turricephaly Tall head relative to width and length. [{'predicate': 'subClassOf', 'target': 'AbnormalCalvariaMorphology'}]"
} |
{
"aliases": null,
"definition": "A calcareous tooth that is elongated and protrudes from the mouth.",
"id": "Tusk",
"label": "tusk",
"logical_definition": null,
"original_id": "UBERON:0010879",
"relationships": null
} | 0 | {
"document": "tusk A calcareous tooth that is elongated and protrudes from the mouth. None"
} |
{
"aliases": null,
"definition": null,
"id": "TwelfthRibHypoplasia",
"label": "Twelfth rib hypoplasia",
"logical_definition": null,
"original_id": "HP:0006668",
"relationships": [
{
"predicate": "subClassOf",
"target": "ShortRibs"
}
]
} | 0 | {
"document": "Twelfth rib hypoplasia None [{'predicate': 'subClassOf', 'target': 'ShortRibs'}]"
} |
{
"aliases": null,
"definition": "As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.",
"id": "TwinToTwinTransfusion",
"label": "Twin-to-twin transfusion",
"logical_definition": null,
"original_id": "HP:0031110",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalFetalPhysiology"
}
]
} | 0 | {
"document": "Twin-to-twin transfusion As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. [{'predicate': 'subClassOf', 'target': 'AbnormalFetalPhysiology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TwoCarpalOssificationCentersPresentAtBirth",
"label": "Two carpal ossification centers present at birth",
"logical_definition": null,
"original_id": "HP:0006176",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfCarpalBoneOssification"
}
]
} | 0 | {
"document": "Two carpal ossification centers present at birth None [{'predicate': 'subClassOf', 'target': 'AbnormalityOfCarpalBoneOssification'}]"
} |
{
"aliases": null,
"definition": "A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.",
"id": "TwoRapheBicuspidAorticValve",
"label": "Two-raphe bicuspid aortic valve",
"logical_definition": null,
"original_id": "HP:0031122",
"relationships": [
{
"predicate": "subClassOf",
"target": "BicuspidAorticValve"
}
]
} | 0 | {
"document": "Two-raphe bicuspid aortic valve A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. [{'predicate': 'subClassOf', 'target': 'BicuspidAorticValve'}]"
} |
{
"aliases": null,
"definition": "Small cavity surrounding the bones of the middle ear.",
"id": "TympanicCavity",
"label": "tympanic cavity",
"logical_definition": null,
"original_id": "UBERON:0004114",
"relationships": [
{
"predicate": "PartOf",
"target": "MiddleEar"
},
{
"predicate": "SurroundedBy",
"target": "TympanicCavityEpithelium"
},
{
"predicate": "Surrounds",
"target": "AuditoryOssicleBone"
},
{
"predicate": "DevelopmentallyReplaces",
"target": "TubotympanicRecessLumen"
},
{
"predicate": "subClassOf",
"target": "OpenAnatomicalSpace"
}
]
} | 0 | {
"document": "tympanic cavity Small cavity surrounding the bones of the middle ear. [{'predicate': 'PartOf', 'target': 'MiddleEar'}, {'predicate': 'SurroundedBy', 'target': 'TympanicCavityEpithelium'}, {'predicate': 'Surrounds', 'target': 'AuditoryOssicleBone'}, {'predicate': 'DevelopmentallyReplaces', 'target': 'TubotympanicRecessLumen'}, {'predicate': 'subClassOf', 'target': 'OpenAnatomicalSpace'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TympanicCavityEpithelium",
"label": "tympanic cavity epithelium",
"logical_definition": null,
"original_id": "UBERON:0010063",
"relationships": [
{
"predicate": "PartOf",
"target": "MiddleEar"
},
{
"predicate": "LocatedIn",
"target": "TympanicCavity"
},
{
"predicate": "DevelopsFromPartOf",
"target": "TubotympanicRecessEpithelium"
},
{
"predicate": "subClassOf",
"target": "EpithelialSac"
}
]
} | 0 | {
"document": "tympanic cavity epithelium None [{'predicate': 'PartOf', 'target': 'MiddleEar'}, {'predicate': 'LocatedIn', 'target': 'TympanicCavity'}, {'predicate': 'DevelopsFromPartOf', 'target': 'TubotympanicRecessEpithelium'}, {'predicate': 'subClassOf', 'target': 'EpithelialSac'}]"
} |
{
"aliases": null,
"definition": "A thin membrane that separates the external ear from the middle ear, consisting of two epithelia (one part of the the external accoustic meatus epithelium, the other part of the tympanic cavity epithelium) with a fibrous layer between them. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. [WP,unvetted].",
"id": "TympanicMembrane",
"label": "tympanic membrane",
"logical_definition": null,
"original_id": "UBERON:0002364",
"relationships": [
{
"predicate": "PartOf",
"target": "MiddleEar"
},
{
"predicate": "HasPart",
"target": "InnerEpithelialLayerOfTympanicMembrane"
},
{
"predicate": "HasPart",
"target": "OuterEpithelialLayerOfTympanicMembrane"
},
{
"predicate": "HasPart",
"target": "IntermediateLayerOfTympanicMembrane"
},
{
"predicate": "Overlaps",
"target": "ExternalAcousticMeatus"
},
{
"predicate": "Overlaps",
"target": "ExternalEar"
},
{
"predicate": "DevelopsFrom",
"target": "PharyngealMembraneOf1stArch"
},
{
"predicate": "AdjacentTo",
"target": "TympanicCavity"
},
{
"predicate": "ContributesToMorphologyOf",
"target": "MiddleEar"
},
{
"predicate": "subClassOf",
"target": "MembraneOrgan"
}
]
} | 0 | {
"document": "tympanic membrane A thin membrane that separates the external ear from the middle ear, consisting of two epithelia (one part of the the external accoustic meatus epithelium, the other part of the tympanic cavity epithelium) with a fibrous layer between them. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. [WP,unvetted]. [{'predicate': 'PartOf', 'target': 'MiddleEar'}, {'predicate': 'HasPart', 'target': 'InnerEpithelialLayerOfTympanicMembrane'}, {'predicate': 'HasPart', 'target': 'OuterEpithelialLayerOfTympanicMembrane'}, {'predicate': 'HasPart', 'target': 'IntermediateLayerOfTympanicMembrane'}, {'predicate': 'Overlaps', 'target': 'ExternalAcousticMeatus'}, {'predicate': 'Overlaps', 'target': 'ExternalEar'}, {'predicate': 'DevelopsFrom', 'target': 'PharyngealMembraneOf1stArch'}, {'predicate': 'AdjacentTo', 'target': 'TympanicCavity'}, {'predicate': 'ContributesToMorphologyOf', 'target': 'MiddleEar'}, {'predicate': 'subClassOf', 'target': 'MembraneOrgan'}]"
} |
{
"aliases": null,
"definition": "One of the two epithelia which make up the tympanic membrane (along with the fibrous layer).",
"id": "TympanicMembraneEpithelium",
"label": "tympanic membrane epithelium",
"logical_definition": null,
"original_id": "UBERON:0009647",
"relationships": [
{
"predicate": "subClassOf",
"target": "LayerOfTympanicMembrane"
}
]
} | 0 | {
"document": "tympanic membrane epithelium One of the two epithelia which make up the tympanic membrane (along with the fibrous layer). [{'predicate': 'subClassOf', 'target': 'LayerOfTympanicMembrane'}]"
} |
{
"aliases": null,
"definition": "A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.",
"id": "Tympanosclerosis",
"label": "Tympanosclerosis",
"logical_definition": null,
"original_id": "HP:0020123",
"relationships": [
{
"predicate": "subClassOf",
"target": "MorphologicalAbnormalityOfTheMiddleEar"
}
]
} | 0 | {
"document": "Tympanosclerosis A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. [{'predicate': 'subClassOf', 'target': 'MorphologicalAbnormalityOfTheMiddleEar'}]"
} |
{
"aliases": null,
"definition": "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.",
"id": "Type1AndType2MuscleFiberMinicoreRegions",
"label": "Type 1 and type 2 muscle fiber minicore regions",
"logical_definition": null,
"original_id": "HP:0003787",
"relationships": [
{
"predicate": "subClassOf",
"target": "MinicoreMyopathy"
}
]
} | 0 | {
"document": "Type 1 and type 2 muscle fiber minicore regions Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. [{'predicate': 'subClassOf', 'target': 'MinicoreMyopathy'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Type1CollagenOvermodification",
"label": "Type 1 collagen overmodification",
"logical_definition": null,
"original_id": "HP:0003784",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalBoneCollagenFibrilMorphology"
}
]
} | 0 | {
"document": "Type 1 collagen overmodification None [{'predicate': 'subClassOf', 'target': 'AbnormalBoneCollagenFibrilMorphology'}]"
} |
{
"aliases": null,
"definition": "A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.",
"id": "Type1CongenitalPulmonaryAirwayMalformation",
"label": "Type 1 congenital pulmonary airway malformation",
"logical_definition": null,
"original_id": "HP:0025725",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalPulmonaryAirwayMalformation"
}
]
} | 0 | {
"document": "Type 1 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst. [{'predicate': 'subClassOf', 'target': 'CongenitalPulmonaryAirwayMalformation'}]"
} |
{
"aliases": null,
"definition": "An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule.",
"id": "Type1EpithelialCellOfThymus",
"label": "type-1 epithelial cell of thymus",
"logical_definition": null,
"original_id": "CL:0002294",
"relationships": [
{
"predicate": "subClassOf",
"target": "CorticalThymicEpithelialCell"
}
]
} | 0 | {
"document": "type-1 epithelial cell of thymus An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule. [{'predicate': 'subClassOf', 'target': 'CorticalThymicEpithelialCell'}]"
} |
{
"aliases": null,
"definition": "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.",
"id": "Type1FibersRelativelySmallerThanType2Fibers",
"label": "Type 1 fibers relatively smaller than type 2 fibers",
"logical_definition": null,
"original_id": "HP:0003755",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfSkeletalMuscleFiberSize"
}
]
} | 0 | {
"document": "Type 1 fibers relatively smaller than type 2 fibers The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfSkeletalMuscleFiberSize'}]"
} |
{
"aliases": null,
"definition": "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.",
"id": "Type1MuscleFiberAtrophy",
"label": "Type 1 muscle fiber atrophy",
"logical_definition": null,
"original_id": "HP:0011807",
"relationships": [
{
"predicate": "subClassOf",
"target": "MuscleFiberAtrophy"
}
]
} | 0 | {
"document": "Type 1 muscle fiber atrophy Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. [{'predicate': 'subClassOf', 'target': 'MuscleFiberAtrophy'}]"
} |
{
"aliases": null,
"definition": "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).",
"id": "Type1MuscleFiberPredominance",
"label": "Type 1 muscle fiber predominance",
"logical_definition": null,
"original_id": "HP:0003803",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberTypeDistribution"
}
]
} | 0 | {
"document": "Type 1 muscle fiber predominance An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberTypeDistribution'}]"
} |
{
"aliases": null,
"definition": "A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging.",
"id": "Type1Schizencephaly",
"label": "Type 1 schizencephaly",
"logical_definition": null,
"original_id": "HP:0025702",
"relationships": [
{
"predicate": "subClassOf",
"target": "Schizencephaly"
}
]
} | 0 | {
"document": "Type 1 schizencephaly A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging. [{'predicate': 'subClassOf', 'target': 'Schizencephaly'}]"
} |
{
"aliases": null,
"definition": "A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).",
"id": "Type2CongenitalPulmonaryAirwayMalformation",
"label": "Type 2 congenital pulmonary airway malformation",
"logical_definition": null,
"original_id": "HP:0025726",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalPulmonaryAirwayMalformation"
}
]
} | 0 | {
"document": "Type 2 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance). [{'predicate': 'subClassOf', 'target': 'CongenitalPulmonaryAirwayMalformation'}]"
} |
{
"aliases": null,
"definition": "An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects.",
"id": "Type2ImmuneResponse",
"label": "type 2 immune response",
"logical_definition": null,
"original_id": "GO:0042092",
"relationships": [
{
"predicate": "subClassOf",
"target": "ImmuneResponse"
}
]
} | 0 | {
"document": "type 2 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. [{'predicate': 'subClassOf', 'target': 'ImmuneResponse'}]"
} |
{
"aliases": null,
"definition": "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.",
"id": "Type2MuscleFiberAtrophy",
"label": "Type 2 muscle fiber atrophy",
"logical_definition": null,
"original_id": "HP:0003554",
"relationships": [
{
"predicate": "subClassOf",
"target": "MuscleFiberAtrophy"
}
]
} | 0 | {
"document": "Type 2 muscle fiber atrophy Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. [{'predicate': 'subClassOf', 'target': 'MuscleFiberAtrophy'}]"
} |
{
"aliases": null,
"definition": "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).",
"id": "Type2MuscleFiberPredominance",
"label": "Type 2 muscle fiber predominance",
"logical_definition": null,
"original_id": "HP:0010602",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMuscleFiberTypeDistribution"
}
]
} | 0 | {
"document": "Type 2 muscle fiber predominance An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). [{'predicate': 'subClassOf', 'target': 'AbnormalMuscleFiberTypeDistribution'}]"
} |
{
"aliases": null,
"definition": "A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other.",
"id": "Type2Schizencephaly",
"label": "Type 2 schizencephaly",
"logical_definition": null,
"original_id": "HP:0025703",
"relationships": [
{
"predicate": "subClassOf",
"target": "Schizencephaly"
}
]
} | 0 | {
"document": "Type 2 schizencephaly A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other. [{'predicate': 'subClassOf', 'target': 'Schizencephaly'}]"
} |
{
"aliases": null,
"definition": "A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.",
"id": "Type3CongenitalPulmonaryAirwayMalformation",
"label": "Type 3 congenital pulmonary airway malformation",
"logical_definition": null,
"original_id": "HP:0025727",
"relationships": [
{
"predicate": "subClassOf",
"target": "CongenitalPulmonaryAirwayMalformation"
}
]
} | 0 | {
"document": "Type 3 congenital pulmonary airway malformation A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance. [{'predicate': 'subClassOf', 'target': 'CongenitalPulmonaryAirwayMalformation'}]"
} |
{
"aliases": null,
"definition": "A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter.",
"id": "Type3Schizencephaly",
"label": "Type 3 schizencephaly",
"logical_definition": null,
"original_id": "HP:0025704",
"relationships": [
{
"predicate": "subClassOf",
"target": "Schizencephaly"
}
]
} | 0 | {
"document": "Type 3 schizencephaly A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter. [{'predicate': 'subClassOf', 'target': 'Schizencephaly'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TypeA1Brachydactyly",
"label": "Type A1 brachydactyly",
"logical_definition": null,
"original_id": "HP:0009371",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeABrachydactyly"
}
]
} | 0 | {
"document": "Type A1 brachydactyly None [{'predicate': 'subClassOf', 'target': 'TypeABrachydactyly'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TypeA2Brachydactyly",
"label": "Type A2 brachydactyly",
"logical_definition": null,
"original_id": "HP:0009372",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeABrachydactyly"
}
]
} | 0 | {
"document": "Type A2 brachydactyly None [{'predicate': 'subClassOf', 'target': 'TypeABrachydactyly'}]"
} |
{
"aliases": null,
"definition": "A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.",
"id": "TypeA4Brachydactyly",
"label": "Type A4 brachydactyly",
"logical_definition": null,
"original_id": "HP:0031043",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeABrachydactyly"
}
]
} | 0 | {
"document": "Type A4 brachydactyly A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. [{'predicate': 'subClassOf', 'target': 'TypeABrachydactyly'}]"
} |
{
"aliases": null,
"definition": "A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.",
"id": "TypeA5Brachydactyly",
"label": "Type A5 brachydactyly",
"logical_definition": null,
"original_id": "HP:0031044",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeABrachydactyly"
}
]
} | 0 | {
"document": "Type A5 brachydactyly A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. [{'predicate': 'subClassOf', 'target': 'TypeABrachydactyly'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TypeABrachydactyly",
"label": "Type A brachydactyly",
"logical_definition": null,
"original_id": "HP:0009370",
"relationships": [
{
"predicate": "subClassOf",
"target": "Brachydactyly"
}
]
} | 0 | {
"document": "Type A brachydactyly None [{'predicate': 'subClassOf', 'target': 'Brachydactyly'}]"
} |
{
"aliases": null,
"definition": "A type of enteroendocrine cell found in the stomach that secretes glucagon.",
"id": "TypeACellOfStomach",
"label": "type A cell of stomach",
"logical_definition": null,
"original_id": "CL:0002264",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeAEnteroendocrineCell"
}
]
} | 0 | {
"document": "type A cell of stomach A type of enteroendocrine cell found in the stomach that secretes glucagon. [{'predicate': 'subClassOf', 'target': 'TypeAEnteroendocrineCell'}]"
} |
{
"aliases": null,
"definition": "An enteroendocrine cell that produces glucagon.",
"id": "TypeAEnteroendocrineCell",
"label": "type A enteroendocrine cell",
"logical_definition": null,
"original_id": "CL:0002067",
"relationships": null
} | 0 | {
"document": "type A enteroendocrine cell An enteroendocrine cell that produces glucagon. None"
} |
{
"aliases": null,
"definition": null,
"id": "TypeBBrachydactyly",
"label": "Type B brachydactyly",
"logical_definition": null,
"original_id": "HP:0005831",
"relationships": [
{
"predicate": "subClassOf",
"target": "Brachydactyly"
}
]
} | 0 | {
"document": "Type B brachydactyly None [{'predicate': 'subClassOf', 'target': 'Brachydactyly'}]"
} |
{
"aliases": null,
"definition": "A cell that secretes insulin and is located towards the center of the islets of Langerhans.",
"id": "TypeBPancreaticCell",
"label": "type B pancreatic cell",
"logical_definition": null,
"original_id": "CL:0000169",
"relationships": [
{
"predicate": "DevelopsFrom",
"target": "ProgenitorCellOfEndocrinePancreas"
},
{
"predicate": "subClassOf",
"target": "EnteroendocrineCell"
},
{
"predicate": "subClassOf",
"target": "InsulinSecretingCell"
}
]
} | 0 | {
"document": "type B pancreatic cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. [{'predicate': 'DevelopsFrom', 'target': 'ProgenitorCellOfEndocrinePancreas'}, {'predicate': 'subClassOf', 'target': 'EnteroendocrineCell'}, {'predicate': 'subClassOf', 'target': 'InsulinSecretingCell'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TypeCBrachydactyly",
"label": "Type C brachydactyly",
"logical_definition": null,
"original_id": "HP:0009373",
"relationships": [
{
"predicate": "subClassOf",
"target": "Brachydactyly"
}
]
} | 0 | {
"document": "Type C brachydactyly None [{'predicate': 'subClassOf', 'target': 'Brachydactyly'}]"
} |
{
"aliases": null,
"definition": "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.",
"id": "TypeDBrachydactyly",
"label": "Type D brachydactyly",
"logical_definition": null,
"original_id": "HP:0005627",
"relationships": [
{
"predicate": "subClassOf",
"target": "Brachydactyly"
}
]
} | 0 | {
"document": "Type D brachydactyly This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [{'predicate': 'subClassOf', 'target': 'Brachydactyly'}]"
} |
{
"aliases": null,
"definition": "A D cell located in the colon.",
"id": "TypeDCellOfColon",
"label": "type D cell of colon",
"logical_definition": null,
"original_id": "CL:0002265",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeDEnteroendocrineCell"
},
{
"predicate": "subClassOf",
"target": "GlandularCellOfTheLargeIntestine"
}
]
} | 0 | {
"document": "type D cell of colon A D cell located in the colon. [{'predicate': 'subClassOf', 'target': 'TypeDEnteroendocrineCell'}, {'predicate': 'subClassOf', 'target': 'GlandularCellOfTheLargeIntestine'}]"
} |
{
"aliases": null,
"definition": "A type D cell of the small intestine.",
"id": "TypeDCellOfSmallIntestine",
"label": "type D cell of small intestine",
"logical_definition": null,
"original_id": "CL:0002266",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeDEnteroendocrineCell"
},
{
"predicate": "subClassOf",
"target": "EpithelialCellOfSmallIntestine"
}
]
} | 0 | {
"document": "type D cell of small intestine A type D cell of the small intestine. [{'predicate': 'subClassOf', 'target': 'TypeDEnteroendocrineCell'}, {'predicate': 'subClassOf', 'target': 'EpithelialCellOfSmallIntestine'}]"
} |
{
"aliases": null,
"definition": "A type D cell found in the stomach.",
"id": "TypeDCellOfStomach",
"label": "type D cell of stomach",
"logical_definition": null,
"original_id": "CL:0002267",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypeDEnteroendocrineCell"
},
{
"predicate": "subClassOf",
"target": "GlandularCellOfStomach"
}
]
} | 0 | {
"document": "type D cell of stomach A type D cell found in the stomach. [{'predicate': 'subClassOf', 'target': 'TypeDEnteroendocrineCell'}, {'predicate': 'subClassOf', 'target': 'GlandularCellOfStomach'}]"
} |
{
"aliases": null,
"definition": "A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin.",
"id": "TypeDEnteroendocrineCell",
"label": "type D enteroendocrine cell",
"logical_definition": null,
"original_id": "CL:0000502",
"relationships": [
{
"predicate": "CapableOf",
"target": "SomatostatinSecretion"
},
{
"predicate": "subClassOf",
"target": "EnteroendocrineCell"
}
]
} | 0 | {
"document": "type D enteroendocrine cell A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin. [{'predicate': 'CapableOf', 'target': 'SomatostatinSecretion'}, {'predicate': 'subClassOf', 'target': 'EnteroendocrineCell'}]"
} |
{
"aliases": null,
"definition": "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.",
"id": "TypeEBrachydactyly",
"label": "Type E brachydactyly",
"logical_definition": null,
"original_id": "HP:0005863",
"relationships": [
{
"predicate": "subClassOf",
"target": "Brachydactyly"
}
]
} | 0 | {
"document": "Type E brachydactyly In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. [{'predicate': 'subClassOf', 'target': 'Brachydactyly'}]"
} |
{
"aliases": null,
"definition": "An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli.",
"id": "TypeGEnteroendocrineCell",
"label": "type G enteroendocrine cell",
"logical_definition": null,
"original_id": "CL:0000508",
"relationships": [
{
"predicate": "PartOf",
"target": "MucosaOfPyloricAntrum"
},
{
"predicate": "subClassOf",
"target": "EnteroendocrineCell"
},
{
"predicate": "subClassOf",
"target": "EnkephalinSecretingCell"
},
{
"predicate": "subClassOf",
"target": "GastrinSecretingCell"
}
]
} | 0 | {
"document": "type G enteroendocrine cell An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli. [{'predicate': 'PartOf', 'target': 'MucosaOfPyloricAntrum'}, {'predicate': 'subClassOf', 'target': 'EnteroendocrineCell'}, {'predicate': 'subClassOf', 'target': 'EnkephalinSecretingCell'}, {'predicate': 'subClassOf', 'target': 'GastrinSecretingCell'}]"
} |
{
"aliases": null,
"definition": "Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).",
"id": "TypeIAtheroscleroticLesion",
"label": "Type I atherosclerotic lesion",
"logical_definition": null,
"original_id": "HP:0031679",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtheroscleroticLesion"
}
]
} | 0 | {
"document": "Type I atherosclerotic lesion Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells). [{'predicate': 'subClassOf', 'target': 'AtheroscleroticLesion'}]"
} |
{
"aliases": null,
"definition": "A chromaffin cell of the adrenal medulla that produces norepinephrine.",
"id": "TypeICellOfAdrenalMedulla",
"label": "type I cell of adrenal medulla",
"logical_definition": null,
"original_id": "CL:0002083",
"relationships": [
{
"predicate": "subClassOf",
"target": "AdrenalMedullaChromaffinCell"
}
]
} | 0 | {
"document": "type I cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces norepinephrine. [{'predicate': 'subClassOf', 'target': 'AdrenalMedullaChromaffinCell'}]"
} |
{
"aliases": null,
"definition": "A type of cryptotia associated with reduction in size of the antihelix and superior crus.",
"id": "TypeICryptotia",
"label": "Type I cryptotia",
"logical_definition": null,
"original_id": "HP:0011253",
"relationships": [
{
"predicate": "subClassOf",
"target": "Cryptotia"
}
]
} | 0 | {
"document": "Type I cryptotia A type of cryptotia associated with reduction in size of the antihelix and superior crus. [{'predicate': 'subClassOf', 'target': 'Cryptotia'}]"
} |
{
"aliases": null,
"definition": "A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.",
"id": "TypeIDiabetesMellitus",
"label": "Type I diabetes mellitus",
"logical_definition": null,
"original_id": "HP:0100651",
"relationships": [
{
"predicate": "subClassOf",
"target": "DiabetesMellitus"
}
]
} | 0 | {
"document": "Type I diabetes mellitus A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. [{'predicate': 'subClassOf', 'target': 'DiabetesMellitus'}]"
} |
{
"aliases": null,
"definition": "Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.",
"id": "TypeIIAtheroscleroticLesion",
"label": "Type II atherosclerotic lesion",
"logical_definition": null,
"original_id": "HP:0031680",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtheroscleroticLesion"
}
]
} | 0 | {
"document": "Type II atherosclerotic lesion Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. [{'predicate': 'subClassOf', 'target': 'AtheroscleroticLesion'}]"
} |
{
"aliases": null,
"definition": "A chromaffin cell of the adrenal medulla that produces epinephrine.",
"id": "TypeIICellOfAdrenalMedulla",
"label": "type II cell of adrenal medulla",
"logical_definition": null,
"original_id": "CL:0002082",
"relationships": [
{
"predicate": "subClassOf",
"target": "AdrenalMedullaChromaffinCell"
}
]
} | 0 | {
"document": "type II cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces epinephrine. [{'predicate': 'subClassOf', 'target': 'AdrenalMedullaChromaffinCell'}]"
} |
{
"aliases": null,
"definition": "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.",
"id": "TypeIICryptotia",
"label": "Type II cryptotia",
"logical_definition": null,
"original_id": "HP:0011254",
"relationships": [
{
"predicate": "subClassOf",
"target": "Cryptotia"
}
]
} | 0 | {
"document": "Type II cryptotia A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. [{'predicate': 'subClassOf', 'target': 'Cryptotia'}]"
} |
{
"aliases": null,
"definition": "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.",
"id": "TypeIIDiabetesMellitus",
"label": "Type II diabetes mellitus",
"logical_definition": null,
"original_id": "HP:0005978",
"relationships": [
{
"predicate": "subClassOf",
"target": "DiabetesMellitus"
}
]
} | 0 | {
"document": "Type II diabetes mellitus A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. [{'predicate': 'subClassOf', 'target': 'DiabetesMellitus'}]"
} |
{
"aliases": null,
"definition": "Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.",
"id": "TypeIIIAtheroscleroticLesion",
"label": "Type III atherosclerotic lesion",
"logical_definition": null,
"original_id": "HP:0031681",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtheroscleroticLesion"
}
]
} | 0 | {
"document": "Type III atherosclerotic lesion Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. [{'predicate': 'subClassOf', 'target': 'AtheroscleroticLesion'}]"
} |
{
"aliases": null,
"definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.",
"id": "TypeIIITruncusArteriosus",
"label": "Type III truncus arteriosus",
"logical_definition": null,
"original_id": "HP:0011609",
"relationships": [
{
"predicate": "subClassOf",
"target": "TruncusArteriosus"
}
]
} | 0 | {
"document": "Type III truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. [{'predicate': 'subClassOf', 'target': 'TruncusArteriosus'}]"
} |
{
"aliases": null,
"definition": "The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon.",
"id": "TypeIIInterferonProduction",
"label": "type II interferon production",
"logical_definition": null,
"original_id": "GO:0032609",
"relationships": [
{
"predicate": "subClassOf",
"target": "CytokineProduction"
}
]
} | 0 | {
"document": "type II interferon production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. [{'predicate': 'subClassOf', 'target': 'CytokineProduction'}]"
} |
{
"aliases": null,
"definition": "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.",
"id": "TypeIILissencephaly",
"label": "Type II lissencephaly",
"logical_definition": null,
"original_id": "HP:0007260",
"relationships": [
{
"predicate": "subClassOf",
"target": "Lissencephaly"
}
]
} | 0 | {
"document": "Type II lissencephaly A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. [{'predicate': 'subClassOf', 'target': 'Lissencephaly'}]"
} |
{
"aliases": null,
"definition": "A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli.",
"id": "TypeIIPneumocyte",
"label": "type II pneumocyte",
"logical_definition": null,
"original_id": "CL:0002063",
"relationships": null
} | 0 | {
"document": "type II pneumocyte A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli. None"
} |
{
"aliases": null,
"definition": "Increase in the number of type II pneumocytes.",
"id": "TypeIIPneumocyteHyperplasia",
"label": "Type II pneumocyte hyperplasia",
"logical_definition": null,
"original_id": "HP:0033328",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAlveolarTypeIIPneumocyteMorphology"
}
]
} | 0 | {
"document": "Type II pneumocyte hyperplasia Increase in the number of type II pneumocytes. [{'predicate': 'subClassOf', 'target': 'AbnormalAlveolarTypeIIPneumocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.",
"id": "TypeIIPneumocyteHypertrophy",
"label": "Type II pneumocyte hypertrophy",
"logical_definition": null,
"original_id": "HP:0033246",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalAlveolarTypeIIPneumocyteMorphology"
}
]
} | 0 | {
"document": "Type II pneumocyte hypertrophy Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. [{'predicate': 'subClassOf', 'target': 'AbnormalAlveolarTypeIIPneumocyteMorphology'}]"
} |
{
"aliases": null,
"definition": "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.",
"id": "TypeIITransferrinIsoformProfile",
"label": "Type II transferrin isoform profile",
"logical_definition": null,
"original_id": "HP:0012301",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalIsoelectricFocusingOfSerumTransferrin"
}
]
} | 0 | {
"document": "Type II transferrin isoform profile Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. [{'predicate': 'subClassOf', 'target': 'AbnormalIsoelectricFocusingOfSerumTransferrin'}]"
} |
{
"aliases": null,
"definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.",
"id": "TypeIITruncusArteriosus",
"label": "Type II truncus arteriosus",
"logical_definition": null,
"original_id": "HP:0011608",
"relationships": [
{
"predicate": "subClassOf",
"target": "TruncusArteriosus"
}
]
} | 0 | {
"document": "Type II truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. [{'predicate': 'subClassOf', 'target': 'TruncusArteriosus'}]"
} |
{
"aliases": null,
"definition": "A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange.",
"id": "TypeIPneumocyte",
"label": "type I pneumocyte",
"logical_definition": null,
"original_id": "CL:0002062",
"relationships": null
} | 0 | {
"document": "type I pneumocyte A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange. None"
} |
{
"aliases": null,
"definition": "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.",
"id": "TypeITransferrinIsoformProfile",
"label": "Type I transferrin isoform profile",
"logical_definition": null,
"original_id": "HP:0003642",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalIsoelectricFocusingOfSerumTransferrin"
}
]
} | 0 | {
"document": "Type I transferrin isoform profile Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. [{'predicate': 'subClassOf', 'target': 'AbnormalIsoelectricFocusingOfSerumTransferrin'}]"
} |
{
"aliases": null,
"definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.",
"id": "TypeITruncusArteriosus",
"label": "Type I truncus arteriosus",
"logical_definition": null,
"original_id": "HP:0004384",
"relationships": [
{
"predicate": "subClassOf",
"target": "TruncusArteriosus"
}
]
} | 0 | {
"document": "Type I truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. [{'predicate': 'subClassOf', 'target': 'TruncusArteriosus'}]"
} |
{
"aliases": null,
"definition": "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.",
"id": "TypeIVAtheroscleroticLesion",
"label": "Type IV atherosclerotic lesion",
"logical_definition": null,
"original_id": "HP:0002635",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtheroscleroticLesion"
}
]
} | 0 | {
"document": "Type IV atherosclerotic lesion In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. [{'predicate': 'subClassOf', 'target': 'AtheroscleroticLesion'}]"
} |
{
"aliases": null,
"definition": "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.",
"id": "TypeIVTruncusArteriosus",
"label": "Type IV truncus arteriosus",
"logical_definition": null,
"original_id": "HP:0011610",
"relationships": [
{
"predicate": "subClassOf",
"target": "TruncusArteriosus"
}
]
} | 0 | {
"document": "Type IV truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. [{'predicate': 'subClassOf', 'target': 'TruncusArteriosus'}]"
} |
{
"aliases": null,
"definition": "Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.",
"id": "TypeVAtheroscleroticLesion",
"label": "Type V atherosclerotic lesion",
"logical_definition": null,
"original_id": "HP:0031682",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtheroscleroticLesion"
}
]
} | 0 | {
"document": "Type V atherosclerotic lesion Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant. [{'predicate': 'subClassOf', 'target': 'AtheroscleroticLesion'}]"
} |
{
"aliases": null,
"definition": "Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.",
"id": "TypeVIAtheroscleroticLesion",
"label": "Type VI atherosclerotic lesion",
"logical_definition": null,
"original_id": "HP:0031683",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtheroscleroticLesion"
}
]
} | 0 | {
"document": "Type VI atherosclerotic lesion Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. [{'predicate': 'subClassOf', 'target': 'AtheroscleroticLesion'}]"
} |
{
"aliases": null,
"definition": "A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.",
"id": "TypicalAbsenceSeizure",
"label": "Typical absence seizure",
"logical_definition": null,
"original_id": "HP:0011147",
"relationships": [
{
"predicate": "subClassOf",
"target": "GeneralizedNonMotor_absence_seizure"
}
]
} | 0 | {
"document": "Typical absence seizure A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. [{'predicate': 'subClassOf', 'target': 'GeneralizedNonMotor_absence_seizure'}]"
} |
{
"aliases": null,
"definition": "Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.",
"id": "TypicalAbsenceStatusEpilepticus",
"label": "Typical absence status epilepticus",
"logical_definition": null,
"original_id": "HP:0032863",
"relationships": [
{
"predicate": "subClassOf",
"target": "GeneralizedNonConvulsiveStatusEpilepticusWithoutComa"
}
]
} | 0 | {
"document": "Typical absence status epilepticus Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. [{'predicate': 'subClassOf', 'target': 'GeneralizedNonConvulsiveStatusEpilepticusWithoutComa'}]"
} |
{
"aliases": null,
"definition": "Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.",
"id": "TypicalAtrialFlutter",
"label": "Typical atrial flutter",
"logical_definition": null,
"original_id": "HP:0031671",
"relationships": [
{
"predicate": "subClassOf",
"target": "AtrialFlutter"
}
]
} | 0 | {
"document": "Typical atrial flutter Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. [{'predicate': 'subClassOf', 'target': 'AtrialFlutter'}]"
} |
{
"aliases": null,
"definition": "A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).",
"id": "TypicalPerifissuralNodule",
"label": "Typical perifissural nodule",
"logical_definition": null,
"original_id": "HP:0033619",
"relationships": [
{
"predicate": "subClassOf",
"target": "PerifissuralPulmonaryNodule"
}
]
} | 0 | {
"document": "Typical perifissural nodule A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). [{'predicate': 'subClassOf', 'target': 'PerifissuralPulmonaryNodule'}]"
} |
{
"aliases": null,
"definition": "Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.",
"id": "TypicallyDeNovo",
"label": "Typically de novo",
"logical_definition": null,
"original_id": "HP:0025352",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritanceModifier"
}
]
} | 0 | {
"document": "Typically de novo Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals. [{'predicate': 'subClassOf', 'target': 'InheritanceModifier'}]"
} |
{
"aliases": null,
"definition": "Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.",
"id": "TypifiedByAgeRelatedDiseaseOnset",
"label": "Typified by age-related disease onset",
"logical_definition": null,
"original_id": "HP:0003831",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritanceModifier"
}
]
} | 0 | {
"document": "Typified by age-related disease onset Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject. [{'predicate': 'subClassOf', 'target': 'InheritanceModifier'}]"
} |
{
"aliases": null,
"definition": "Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan.",
"id": "TypifiedByHighPenetrance",
"label": "Typified by high penetrance",
"logical_definition": null,
"original_id": "HP:4000158",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypifiedByIncompletePenetrance"
}
]
} | 0 | {
"document": "Typified by high penetrance Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan. [{'predicate': 'subClassOf', 'target': 'TypifiedByIncompletePenetrance'}]"
} |
{
"aliases": null,
"definition": "Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.",
"id": "TypifiedByIncompletePenetrance",
"label": "Typified by incomplete penetrance",
"logical_definition": null,
"original_id": "HP:0003829",
"relationships": [
{
"predicate": "subClassOf",
"target": "InheritanceModifier"
}
]
} | 0 | {
"document": "Typified by incomplete penetrance Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. [{'predicate': 'subClassOf', 'target': 'InheritanceModifier'}]"
} |
{
"aliases": null,
"definition": "Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan.",
"id": "TypifiedByLowPenetrance",
"label": "Typified by low penetrance",
"logical_definition": null,
"original_id": "HP:4000160",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypifiedByIncompletePenetrance"
}
]
} | 0 | {
"document": "Typified by low penetrance Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan. [{'predicate': 'subClassOf', 'target': 'TypifiedByIncompletePenetrance'}]"
} |
{
"aliases": null,
"definition": "Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan.",
"id": "TypifiedByModeratePenetrance",
"label": "Typified by moderate penetrance",
"logical_definition": null,
"original_id": "HP:4000159",
"relationships": [
{
"predicate": "subClassOf",
"target": "TypifiedByIncompletePenetrance"
}
]
} | 0 | {
"document": "Typified by moderate penetrance Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan. [{'predicate': 'subClassOf', 'target': 'TypifiedByIncompletePenetrance'}]"
} |
{
"aliases": null,
"definition": "An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group.",
"id": "Tyrosinate1_",
"label": "tyrosinate(1-)",
"logical_definition": null,
"original_id": "CHEBI:32784",
"relationships": [
{
"predicate": "obo:chebi#is_conjugate_acid_of",
"target": "Tyrosinate2_"
},
{
"predicate": "obo:chebi#is_conjugate_base_of",
"target": "Tyrosine"
},
{
"predicate": "subClassOf",
"target": "AlphaAminoAcidAnion"
}
]
} | 0 | {
"document": "tyrosinate(1-) An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group. [{'predicate': 'obo:chebi#is_conjugate_acid_of', 'target': 'Tyrosinate2_'}, {'predicate': 'obo:chebi#is_conjugate_base_of', 'target': 'Tyrosine'}, {'predicate': 'subClassOf', 'target': 'AlphaAminoAcidAnion'}]"
} |
{
"aliases": null,
"definition": null,
"id": "Tyrosinate2_",
"label": "tyrosinate(2-)",
"logical_definition": null,
"original_id": "CHEBI:32785",
"relationships": [
{
"predicate": "obo:chebi#is_conjugate_base_of",
"target": "Tyrosinate1_"
},
{
"predicate": "subClassOf",
"target": "AlphaAminoAcidAnion"
}
]
} | 0 | {
"document": "tyrosinate(2-) None [{'predicate': 'obo:chebi#is_conjugate_base_of', 'target': 'Tyrosinate1_'}, {'predicate': 'subClassOf', 'target': 'AlphaAminoAcidAnion'}]"
} |
{
"aliases": null,
"definition": "An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring.",
"id": "Tyrosine",
"label": "tyrosine",
"logical_definition": null,
"original_id": "CHEBI:18186",
"relationships": [
{
"predicate": "HasPart",
"target": "4HydroxybenzylGroup"
},
{
"predicate": "HasRole",
"target": "DaphniaMagnaMetabolite"
},
{
"predicate": "obo:chebi#has_functional_parent",
"target": "PropionicAcid"
},
{
"predicate": "obo:chebi#is_conjugate_acid_of",
"target": "Tyrosinate1_"
},
{
"predicate": "obo:chebi#is_conjugate_base_of",
"target": "Tyrosinium"
},
{
"predicate": "subClassOf",
"target": "PolarAminoAcid"
},
{
"predicate": "subClassOf",
"target": "AlphaAminoAcid"
},
{
"predicate": "subClassOf",
"target": "AromaticAminoAcid"
}
]
} | 0 | {
"document": "tyrosine An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring. [{'predicate': 'HasPart', 'target': '4HydroxybenzylGroup'}, {'predicate': 'HasRole', 'target': 'DaphniaMagnaMetabolite'}, {'predicate': 'obo:chebi#has_functional_parent', 'target': 'PropionicAcid'}, {'predicate': 'obo:chebi#is_conjugate_acid_of', 'target': 'Tyrosinate1_'}, {'predicate': 'obo:chebi#is_conjugate_base_of', 'target': 'Tyrosinium'}, {'predicate': 'subClassOf', 'target': 'PolarAminoAcid'}, {'predicate': 'subClassOf', 'target': 'AlphaAminoAcid'}, {'predicate': 'subClassOf', 'target': 'AromaticAminoAcid'}]"
} |
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