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|---|---|---|
{
"aliases": null,
"definition": "Dense regular connective tissue that connects muscle to bone[VSAO].",
"id": "Tendon",
"label": "tendon",
"logical_definition": null,
"original_id": "UBERON:0000043",
"relationships": [
{
"predicate": "PartOf",
"target": "MusculoskeletalSystem"
},
{
"predicate": "HasPart",
"target": "Fibroblast"
},
{
"predicate": "HasPart",
"target": "ExtracellularMatrixSecretingCell"
},
{
"predicate": "Connects",
"target": "BoneElement"
},
{
"predicate": "Connects",
"target": "MuscleOrgan"
},
{
"predicate": "subClassOf",
"target": "DenseRegularConnectiveTissue"
}
]
} | 0 | {
"document": "tendon Dense regular connective tissue that connects muscle to bone[VSAO]. [{'predicate': 'PartOf', 'target': 'MusculoskeletalSystem'}, {'predicate': 'HasPart', 'target': 'Fibroblast'}, {'predicate': 'HasPart', 'target': 'ExtracellularMatrixSecretingCell'}, {'predicate': 'Connects', 'target': 'BoneElement'}, {'predicate': 'Connects', 'target': 'MuscleOrgan'}, {'predicate': 'subClassOf', 'target': 'DenseRegularConnectiveTissue'}]"
} |
{
"aliases": null,
"definition": "The connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity.",
"id": "TendonCollagenFibril",
"label": "tendon collagen fibril",
"logical_definition": null,
"original_id": "UBERON:0011864",
"relationships": [
{
"predicate": "ContributesToMorphologyOf",
"target": "Tendon"
}
]
} | 0 | {
"document": "tendon collagen fibril The connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity. [{'predicate': 'ContributesToMorphologyOf', 'target': 'Tendon'}]"
} |
{
"aliases": null,
"definition": "A tendon that attaches_to a biceps brachii.",
"id": "TendonOfBicepsBrachii",
"label": "tendon of biceps brachii",
"logical_definition": null,
"original_id": "UBERON:0008188",
"relationships": [
{
"predicate": "subClassOf",
"target": "Tendon"
}
]
} | 0 | {
"document": "tendon of biceps brachii A tendon that attaches_to a biceps brachii. [{'predicate': 'subClassOf', 'target': 'Tendon'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TendonOfQuadricepsFemoris",
"label": "tendon of quadriceps femoris",
"logical_definition": null,
"original_id": "UBERON:0014848",
"relationships": [
{
"predicate": "PartOf",
"target": "QuadricepsFemoris"
},
{
"predicate": "subClassOf",
"target": "Tendon"
}
]
} | 0 | {
"document": "tendon of quadriceps femoris None [{'predicate': 'PartOf', 'target': 'QuadricepsFemoris'}, {'predicate': 'subClassOf', 'target': 'Tendon'}]"
} |
{
"aliases": null,
"definition": "A tendon that attaches_to a triceps brachii.",
"id": "TendonOfTricepsBrachii",
"label": "tendon of triceps brachii",
"logical_definition": null,
"original_id": "UBERON:0008192",
"relationships": [
{
"predicate": "subClassOf",
"target": "Tendon"
}
]
} | 0 | {
"document": "tendon of triceps brachii A tendon that attaches_to a triceps brachii. [{'predicate': 'subClassOf', 'target': 'Tendon'}]"
} |
{
"aliases": null,
"definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.",
"id": "TendonPain",
"label": "Tendon pain",
"logical_definition": null,
"original_id": "HP:0032510",
"relationships": [
{
"predicate": "subClassOf",
"target": "Pain"
}
]
} | 0 | {
"document": "Tendon pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. [{'predicate': 'subClassOf', 'target': 'Pain'}]"
} |
{
"aliases": null,
"definition": "Breakage (tear) of a tendon.",
"id": "TendonRupture",
"label": "Tendon rupture",
"logical_definition": null,
"original_id": "HP:0100550",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTendonMorphology"
}
]
} | 0 | {
"document": "Tendon rupture Breakage (tear) of a tendon. [{'predicate': 'subClassOf', 'target': 'AbnormalTendonMorphology'}]"
} |
{
"aliases": null,
"definition": "A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath.",
"id": "TendonSheath",
"label": "tendon sheath",
"logical_definition": null,
"original_id": "UBERON:0000304",
"relationships": [
{
"predicate": "HasPart",
"target": "SynovialMembraneOfSynovialTendonSheath"
},
{
"predicate": "HasPart",
"target": "FibrousMembraneOfSynovialTendonSheath"
}
]
} | 0 | {
"document": "tendon sheath A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath. [{'predicate': 'HasPart', 'target': 'SynovialMembraneOfSynovialTendonSheath'}, {'predicate': 'HasPart', 'target': 'FibrousMembraneOfSynovialTendonSheath'}]"
} |
{
"aliases": null,
"definition": "An abnormal increase in the thickness (diameter) of a tendon.",
"id": "TendonThickening",
"label": "Tendon thickening",
"logical_definition": null,
"original_id": "HP:0032523",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTendonMorphology"
}
]
} | 0 | {
"document": "Tendon thickening An abnormal increase in the thickness (diameter) of a tendon. [{'predicate': 'subClassOf', 'target': 'AbnormalTendonMorphology'}]"
} |
{
"aliases": null,
"definition": "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).",
"id": "TendonXanthomatosis",
"label": "Tendon xanthomatosis",
"logical_definition": null,
"original_id": "HP:0010874",
"relationships": [
{
"predicate": "subClassOf",
"target": "Xanthomatosis"
},
{
"predicate": "subClassOf",
"target": "AbnormalTendonMorphology"
}
]
} | 0 | {
"document": "Tendon xanthomatosis The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). [{'predicate': 'subClassOf', 'target': 'Xanthomatosis'}, {'predicate': 'subClassOf', 'target': 'AbnormalTendonMorphology'}]"
} |
{
"aliases": null,
"definition": "Inflammation of a tendon.",
"id": "Tendonitis",
"label": "Tendonitis",
"logical_definition": null,
"original_id": "HP:0025230",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTendonMorphology"
}
]
} | 0 | {
"document": "Tendonitis Inflammation of a tendon. [{'predicate': 'subClassOf', 'target': 'AbnormalTendonMorphology'}]"
} |
{
"aliases": null,
"definition": "A repeated, painful urge to defecate without excreting stool.",
"id": "Tenesmus",
"label": "Tenesmus",
"logical_definition": null,
"original_id": "HP:0012702",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalLargeIntestinePhysiology"
}
]
} | 0 | {
"document": "Tenesmus A repeated, painful urge to defecate without excreting stool. [{'predicate': 'subClassOf', 'target': 'AbnormalLargeIntestinePhysiology'}]"
} |
{
"aliases": null,
"definition": "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.",
"id": "TensionTypeHeadache",
"label": "Tension-type headache",
"logical_definition": null,
"original_id": "HP:0012228",
"relationships": [
{
"predicate": "subClassOf",
"target": "Headache"
}
]
} | 0 | {
"document": "Tension-type headache A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. [{'predicate': 'subClassOf', 'target': 'Headache'}]"
} |
{
"aliases": null,
"definition": "The larger of the two muscles of the tympanic cavity, is contained in the bony canal above the osseous portion of the auditory tube. Its role is to dampen sounds produced from chewing. It arises from the cartilaginous portion of the auditory tube and the adjoining part of the great wing of the sphenoid, as well as from the osseous canal in which it is contained. Passing backward through the canal, it ends in a slender tendon which enters the tympanic cavity, makes a sharp bend around the extremity of the septum, known as the processus cochleariformis[1], and is inserted into the manubrium of the malleus, near its root[WP].",
"id": "TensorTympani",
"label": "tensor tympani",
"logical_definition": null,
"original_id": "UBERON:0001600",
"relationships": [
{
"predicate": "PartOf",
"target": "MiddleEar"
},
{
"predicate": "LocatedIn",
"target": "TympanicCavity"
},
{
"predicate": "InnervatedBy",
"target": "MandibularNerve"
},
{
"predicate": "DevelopsFrom",
"target": "TensorTympaniPreMuscleCondensation"
},
{
"predicate": "HasMuscleOrigin",
"target": "PharyngotympanicTube"
},
{
"predicate": "HasMuscleInsertion",
"target": "ManubriumOfMalleus"
}
]
} | 0 | {
"document": "tensor tympani The larger of the two muscles of the tympanic cavity, is contained in the bony canal above the osseous portion of the auditory tube. Its role is to dampen sounds produced from chewing. It arises from the cartilaginous portion of the auditory tube and the adjoining part of the great wing of the sphenoid, as well as from the osseous canal in which it is contained. Passing backward through the canal, it ends in a slender tendon which enters the tympanic cavity, makes a sharp bend around the extremity of the septum, known as the processus cochleariformis[1], and is inserted into the manubrium of the malleus, near its root[WP]. [{'predicate': 'PartOf', 'target': 'MiddleEar'}, {'predicate': 'LocatedIn', 'target': 'TympanicCavity'}, {'predicate': 'InnervatedBy', 'target': 'MandibularNerve'}, {'predicate': 'DevelopsFrom', 'target': 'TensorTympaniPreMuscleCondensation'}, {'predicate': 'HasMuscleOrigin', 'target': 'PharyngotympanicTube'}, {'predicate': 'HasMuscleInsertion', 'target': 'ManubriumOfMalleus'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TensorTympaniPreMuscleCondensation",
"label": "tensor tympani pre-muscle condensation",
"logical_definition": null,
"original_id": "UBERON:0010935",
"relationships": [
{
"predicate": "PartOf",
"target": "MiddleEar"
},
{
"predicate": "DevelopsFrom",
"target": "MesenchymeOfMiddleEar"
},
{
"predicate": "subClassOf",
"target": "PreMuscleCondensation"
}
]
} | 0 | {
"document": "tensor tympani pre-muscle condensation None [{'predicate': 'PartOf', 'target': 'MiddleEar'}, {'predicate': 'DevelopsFrom', 'target': 'MesenchymeOfMiddleEar'}, {'predicate': 'subClassOf', 'target': 'PreMuscleCondensation'}]"
} |
{
"aliases": null,
"definition": "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.",
"id": "TentedPhiltrum",
"label": "Tented philtrum",
"logical_definition": null,
"original_id": "HP:0011825",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfThePhiltrum"
}
]
} | 0 | {
"document": "Tented philtrum Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfThePhiltrum'}]"
} |
{
"aliases": null,
"definition": "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.",
"id": "TentedUpperLipVermilion",
"label": "Tented upper lip vermilion",
"logical_definition": null,
"original_id": "HP:0010804",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalityOfUpperLipVermillion"
}
]
} | 0 | {
"document": "Tented upper lip vermilion Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. [{'predicate': 'subClassOf', 'target': 'AbnormalityOfUpperLipVermillion'}]"
} |
{
"aliases": null,
"definition": "The presence of a teratoma.",
"id": "Teratoma",
"label": "Teratoma",
"logical_definition": null,
"original_id": "HP:0009792",
"relationships": [
{
"predicate": "subClassOf",
"target": "EmbryonalNeoplasm"
},
{
"predicate": "subClassOf",
"target": "GermCellNeoplasia"
}
]
} | 0 | {
"document": "Teratoma The presence of a teratoma. [{'predicate': 'subClassOf', 'target': 'EmbryonalNeoplasm'}, {'predicate': 'subClassOf', 'target': 'GermCellNeoplasia'}]"
} |
{
"aliases": null,
"definition": "Generally benign germ cell derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor. Malignant tumors are highly metatstatic. (M-9080/1).",
"id": "Teratoma_MPATH:322",
"label": "teratoma",
"logical_definition": null,
"original_id": "MPATH:322",
"relationships": [
{
"predicate": "subClassOf",
"target": "ComplexTumor"
},
{
"predicate": "subClassOf",
"target": "GermCellTumor"
}
]
} | 0 | {
"document": "teratoma Generally benign germ cell derived tumors of male or female containing derivatives from all three germ layers with differentiation in the malignant form being poor. Malignant tumors are highly metatstatic. (M-9080/1). [{'predicate': 'subClassOf', 'target': 'ComplexTumor'}, {'predicate': 'subClassOf', 'target': 'GermCellTumor'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TermReplacedBy",
"label": "term replaced by",
"logical_definition": null,
"original_id": "IAO:0100001",
"relationships": null
} | 0 | {
"document": "term replaced by None None"
} |
{
"aliases": null,
"definition": "The two terminal branches of the ophthalmic artery in humans are the dorsal nasal artery and the supratrochlear artery.",
"id": "TerminalBranchOfOphthalmicArtery",
"label": "terminal branch of ophthalmic artery",
"logical_definition": null,
"original_id": "UBERON:0015156",
"relationships": [
{
"predicate": "BranchingPartOf",
"target": "OphthalmicArtery"
},
{
"predicate": "subClassOf",
"target": "Artery"
}
]
} | 0 | {
"document": "terminal branch of ophthalmic artery The two terminal branches of the ophthalmic artery in humans are the dorsal nasal artery and the supratrochlear artery. [{'predicate': 'BranchingPartOf', 'target': 'OphthalmicArtery'}, {'predicate': 'subClassOf', 'target': 'Artery'}]"
} |
{
"aliases": null,
"definition": "The last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls.",
"id": "TerminalBronchiole",
"label": "terminal bronchiole",
"logical_definition": null,
"original_id": "UBERON:0002187",
"relationships": [
{
"predicate": "subClassOf",
"target": "Bronchiole"
}
]
} | 0 | {
"document": "terminal bronchiole The last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls. [{'predicate': 'subClassOf', 'target': 'Bronchiole'}]"
} |
{
"aliases": null,
"definition": "An epithelium that lines a terminal bronchiole.",
"id": "TerminalBronchioleEpithelium",
"label": "terminal bronchiole epithelium",
"logical_definition": null,
"original_id": "UBERON:0001958",
"relationships": [
{
"predicate": "HasPart",
"target": "ClubCell"
}
]
} | 0 | {
"document": "terminal bronchiole epithelium An epithelium that lines a terminal bronchiole. [{'predicate': 'HasPart', 'target': 'ClubCell'}]"
} |
{
"aliases": null,
"definition": "A type of insomnia characterized by waking up (too) early in the morning.",
"id": "TerminalInsomnia",
"label": "Terminal insomnia",
"logical_definition": null,
"original_id": "HP:0031356",
"relationships": [
{
"predicate": "subClassOf",
"target": "Insomnia"
}
]
} | 0 | {
"document": "Terminal insomnia A type of insomnia characterized by waking up (too) early in the morning. [{'predicate': 'subClassOf', 'target': 'Insomnia'}]"
} |
{
"aliases": null,
"definition": "The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus.",
"id": "TerminalPartOfDigestiveTract",
"label": "terminal part of digestive tract",
"logical_definition": null,
"original_id": "UBERON:0006866",
"relationships": [
{
"predicate": "ContinuousWith",
"target": "Anus"
},
{
"predicate": "DevelopsFrom",
"target": "Hindgut"
},
{
"predicate": "subClassOf",
"target": "SubdivisionOfDigestiveTract"
}
]
} | 0 | {
"document": "terminal part of digestive tract The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. [{'predicate': 'ContinuousWith', 'target': 'Anus'}, {'predicate': 'DevelopsFrom', 'target': 'Hindgut'}, {'predicate': 'subClassOf', 'target': 'SubdivisionOfDigestiveTract'}]"
} |
{
"aliases": null,
"definition": "A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2].",
"id": "Terpene",
"label": "terpene",
"logical_definition": null,
"original_id": "CHEBI:35186",
"relationships": [
{
"predicate": "subClassOf",
"target": "Hydrocarbon"
},
{
"predicate": "subClassOf",
"target": "Isoprenoid"
}
]
} | 0 | {
"document": "terpene A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. [{'predicate': 'subClassOf', 'target': 'Hydrocarbon'}, {'predicate': 'subClassOf', 'target': 'Isoprenoid'}]"
} |
{
"aliases": null,
"definition": "Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.",
"id": "Terpenoid",
"label": "terpenoid",
"logical_definition": null,
"original_id": "CHEBI:26873",
"relationships": [
{
"predicate": "obo:chebi#has_parent_hydride",
"target": "Terpene"
},
{
"predicate": "subClassOf",
"target": "Isoprenoid"
}
]
} | 0 | {
"document": "terpenoid Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. [{'predicate': 'obo:chebi#has_parent_hydride', 'target': 'Terpene'}, {'predicate': 'subClassOf', 'target': 'Isoprenoid'}]"
} |
{
"aliases": null,
"definition": "The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups.",
"id": "TerpenoidMetabolicProcess",
"label": "terpenoid metabolic process",
"logical_definition": null,
"original_id": "GO:0006721",
"relationships": [
{
"predicate": "subClassOf",
"target": "IsoprenoidMetabolicProcess"
}
]
} | 0 | {
"document": "terpenoid metabolic process The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. [{'predicate': 'subClassOf', 'target': 'IsoprenoidMetabolicProcess'}]"
} |
{
"aliases": null,
"definition": "A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it.",
"id": "TertiaryAlcohol",
"label": "tertiary alcohol",
"logical_definition": null,
"original_id": "CHEBI:26878",
"relationships": [
{
"predicate": "subClassOf",
"target": "Alcohol"
}
]
} | 0 | {
"document": "tertiary alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. [{'predicate': 'subClassOf', 'target': 'Alcohol'}]"
} |
{
"aliases": null,
"definition": "An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups.",
"id": "TertiaryAlphaHydroxyKetone",
"label": "tertiary alpha-hydroxy ketone",
"logical_definition": null,
"original_id": "CHEBI:139592",
"relationships": [
{
"predicate": "subClassOf",
"target": "AlphaHydroxyKetone"
},
{
"predicate": "subClassOf",
"target": "TertiaryAlcohol"
}
]
} | 0 | {
"document": "tertiary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. [{'predicate': 'subClassOf', 'target': 'AlphaHydroxyKetone'}, {'predicate': 'subClassOf', 'target': 'TertiaryAlcohol'}]"
} |
{
"aliases": null,
"definition": "A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.",
"id": "TertiaryAmine",
"label": "tertiary amine",
"logical_definition": null,
"original_id": "CHEBI:32876",
"relationships": [
{
"predicate": "subClassOf",
"target": "Amine"
},
{
"predicate": "subClassOf",
"target": "TertiaryAminoCompound"
}
]
} | 0 | {
"document": "tertiary amine A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups. [{'predicate': 'subClassOf', 'target': 'Amine'}, {'predicate': 'subClassOf', 'target': 'TertiaryAminoCompound'}]"
} |
{
"aliases": null,
"definition": "A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups.",
"id": "TertiaryAminoCompound",
"label": "tertiary amino compound",
"logical_definition": null,
"original_id": "CHEBI:50996",
"relationships": [
{
"predicate": "obo:chebi#is_conjugate_base_of",
"target": "TertiaryAmmoniumIon"
},
{
"predicate": "subClassOf",
"target": "OrganicAminoCompound"
}
]
} | 0 | {
"document": "tertiary amino compound A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. [{'predicate': 'obo:chebi#is_conjugate_base_of', 'target': 'TertiaryAmmoniumIon'}, {'predicate': 'subClassOf', 'target': 'OrganicAminoCompound'}]"
} |
{
"aliases": null,
"definition": "An organic cation obtained by protonation of the amino group of any tertiary amino compound.",
"id": "TertiaryAmmoniumIon",
"label": "tertiary ammonium ion",
"logical_definition": null,
"original_id": "CHEBI:137982",
"relationships": [
{
"predicate": "obo:chebi#is_conjugate_acid_of",
"target": "TertiaryAminoCompound"
},
{
"predicate": "subClassOf",
"target": "OrganicCation"
}
]
} | 0 | {
"document": "tertiary ammonium ion An organic cation obtained by protonation of the amino group of any tertiary amino compound. [{'predicate': 'obo:chebi#is_conjugate_acid_of', 'target': 'TertiaryAminoCompound'}, {'predicate': 'subClassOf', 'target': 'OrganicCation'}]"
} |
{
"aliases": null,
"definition": "A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.",
"id": "TertiaryHyperparathyroidism",
"label": "Tertiary hyperparathyroidism",
"logical_definition": null,
"original_id": "HP:0011770",
"relationships": [
{
"predicate": "subClassOf",
"target": "Hyperparathyroidism"
}
]
} | 0 | {
"document": "Tertiary hyperparathyroidism A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism. [{'predicate': 'subClassOf', 'target': 'Hyperparathyroidism'}]"
} |
{
"aliases": null,
"definition": "A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.",
"id": "TessierNumber0FacialCleft",
"label": "Tessier number 0 facial cleft",
"logical_definition": null,
"original_id": "HP:0031570",
"relationships": [
{
"predicate": "subClassOf",
"target": "MidlineFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 0 facial cleft A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. [{'predicate': 'subClassOf', 'target': 'MidlineFacialCleft'}]"
} |
{
"aliases": null,
"definition": "In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.",
"id": "TessierNumber10FacialCleft",
"label": "Tessier number 10 facial cleft",
"logical_definition": null,
"original_id": "HP:0031582",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrbitalCleft"
}
]
} | 0 | {
"document": "Tessier number 10 facial cleft In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. [{'predicate': 'subClassOf', 'target': 'OrbitalCleft'}]"
} |
{
"aliases": null,
"definition": "An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.",
"id": "TessierNumber11FacialCleft",
"label": "Tessier number 11 facial cleft",
"logical_definition": null,
"original_id": "HP:0031583",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrbitalCleft"
}
]
} | 0 | {
"document": "Tessier number 11 facial cleft An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. [{'predicate': 'subClassOf', 'target': 'OrbitalCleft'}]"
} |
{
"aliases": null,
"definition": "There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.",
"id": "TessierNumber12FacialCleft",
"label": "Tessier number 12 facial cleft",
"logical_definition": null,
"original_id": "HP:0031584",
"relationships": [
{
"predicate": "subClassOf",
"target": "ParamedianFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 12 facial cleft There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. [{'predicate': 'subClassOf', 'target': 'ParamedianFacialCleft'}]"
} |
{
"aliases": null,
"definition": "There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.",
"id": "TessierNumber13FacialCleft",
"label": "Tessier number 13 facial cleft",
"logical_definition": null,
"original_id": "HP:0031585",
"relationships": [
{
"predicate": "subClassOf",
"target": "ParamedianFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 13 facial cleft There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. [{'predicate': 'subClassOf', 'target': 'ParamedianFacialCleft'}]"
} |
{
"aliases": null,
"definition": "This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.",
"id": "TessierNumber14FacialCleft",
"label": "Tessier number 14 facial cleft",
"logical_definition": null,
"original_id": "HP:0031586",
"relationships": [
{
"predicate": "subClassOf",
"target": "MidlineFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 14 facial cleft This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. [{'predicate': 'subClassOf', 'target': 'MidlineFacialCleft'}]"
} |
{
"aliases": null,
"definition": "As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.",
"id": "TessierNumber1FacialCleft",
"label": "Tessier number 1 facial cleft",
"logical_definition": null,
"original_id": "HP:0031572",
"relationships": [
{
"predicate": "subClassOf",
"target": "ParamedianFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 1 facial cleft As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. [{'predicate': 'subClassOf', 'target': 'ParamedianFacialCleft'}]"
} |
{
"aliases": null,
"definition": "As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.",
"id": "TessierNumber2FacialCleft",
"label": "Tessier number 2 facial cleft",
"logical_definition": null,
"original_id": "HP:0031573",
"relationships": [
{
"predicate": "subClassOf",
"target": "ParamedianFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 2 facial cleft As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. [{'predicate': 'subClassOf', 'target': 'ParamedianFacialCleft'}]"
} |
{
"aliases": null,
"definition": "A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.",
"id": "TessierNumber30FacialCleft",
"label": "Tessier number 30 facial cleft",
"logical_definition": null,
"original_id": "HP:0031587",
"relationships": [
{
"predicate": "subClassOf",
"target": "MidlineFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 30 facial cleft A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. [{'predicate': 'subClassOf', 'target': 'MidlineFacialCleft'}]"
} |
{
"aliases": null,
"definition": "As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.",
"id": "TessierNumber3FacialCleft",
"label": "Tessier number 3 facial cleft",
"logical_definition": null,
"original_id": "HP:0031575",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrbitalCleft"
}
]
} | 0 | {
"document": "Tessier number 3 facial cleft As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. [{'predicate': 'subClassOf', 'target': 'OrbitalCleft'}]"
} |
{
"aliases": null,
"definition": "The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.",
"id": "TessierNumber4FacialCleft",
"label": "Tessier number 4 facial cleft",
"logical_definition": null,
"original_id": "HP:0031576",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrbitalCleft"
}
]
} | 0 | {
"document": "Tessier number 4 facial cleft The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. [{'predicate': 'subClassOf', 'target': 'OrbitalCleft'}]"
} |
{
"aliases": null,
"definition": "The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.",
"id": "TessierNumber5FacialCleft",
"label": "Tessier number 5 facial cleft",
"logical_definition": null,
"original_id": "HP:0031577",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrbitalCleft"
}
]
} | 0 | {
"document": "Tessier number 5 facial cleft The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. [{'predicate': 'subClassOf', 'target': 'OrbitalCleft'}]"
} |
{
"aliases": null,
"definition": "A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.",
"id": "TessierNumber6FacialCleft",
"label": "Tessier number 6 facial cleft",
"logical_definition": null,
"original_id": "HP:0031578",
"relationships": [
{
"predicate": "subClassOf",
"target": "TransverseFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 6 facial cleft A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. [{'predicate': 'subClassOf', 'target': 'TransverseFacialCleft'}]"
} |
{
"aliases": null,
"definition": "The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.",
"id": "TessierNumber7FacialCleft",
"label": "Tessier number 7 facial cleft",
"logical_definition": null,
"original_id": "HP:0031579",
"relationships": [
{
"predicate": "subClassOf",
"target": "TransverseFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 7 facial cleft The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. [{'predicate': 'subClassOf', 'target': 'TransverseFacialCleft'}]"
} |
{
"aliases": null,
"definition": "The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.",
"id": "TessierNumber8FacialCleft",
"label": "Tessier number 8 facial cleft",
"logical_definition": null,
"original_id": "HP:0031580",
"relationships": [
{
"predicate": "subClassOf",
"target": "TransverseFacialCleft"
}
]
} | 0 | {
"document": "Tessier number 8 facial cleft The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. [{'predicate': 'subClassOf', 'target': 'TransverseFacialCleft'}]"
} |
{
"aliases": null,
"definition": "This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.",
"id": "TessierNumber9FacialCleft",
"label": "Tessier number 9 facial cleft",
"logical_definition": null,
"original_id": "HP:0031581",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrbitalCleft"
}
]
} | 0 | {
"document": "Tessier number 9 facial cleft This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. [{'predicate': 'subClassOf', 'target': 'OrbitalCleft'}]"
} |
{
"aliases": null,
"definition": "Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.",
"id": "TesticularAdrenalRestTumor",
"label": "Testicular adrenal rest tumor",
"logical_definition": null,
"original_id": "HP:0025451",
"relationships": [
{
"predicate": "subClassOf",
"target": "TesticularNeoplasm"
}
]
} | 0 | {
"document": "Testicular adrenal rest tumor Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. [{'predicate': 'subClassOf', 'target': 'TesticularNeoplasm'}]"
} |
{
"aliases": null,
"definition": "One of a pair of arteries that is a branch of the abdominal aorta that supplies blood to a male gonad.",
"id": "TesticularArtery",
"label": "testicular artery",
"logical_definition": null,
"original_id": "UBERON:0001187",
"relationships": [
{
"predicate": "BranchingPartOf",
"target": "AbdominalAorta"
}
]
} | 0 | {
"document": "testicular artery One of a pair of arteries that is a branch of the abdominal aorta that supplies blood to a male gonad. [{'predicate': 'BranchingPartOf', 'target': 'AbdominalAorta'}]"
} |
{
"aliases": null,
"definition": "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.",
"id": "TesticularAtrophy",
"label": "Testicular atrophy",
"logical_definition": null,
"original_id": "HP:0000029",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
}
]
} | 0 | {
"document": "Testicular atrophy Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TesticularDysgenesis",
"label": "Testicular dysgenesis",
"logical_definition": null,
"original_id": "HP:0008715",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
}
]
} | 0 | {
"document": "Testicular dysgenesis None [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}]"
} |
{
"aliases": null,
"definition": "Formation of excess connective tissue in the testicle.",
"id": "TesticularFibrosis",
"label": "Testicular fibrosis",
"logical_definition": null,
"original_id": "HP:0012860",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
}
]
} | 0 | {
"document": "Testicular fibrosis Formation of excess connective tissue in the testicle. [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}]"
} |
{
"aliases": null,
"definition": "The presence of a gonadoblastoma of the testis.",
"id": "TesticularGonadoblastoma",
"label": "Testicular gonadoblastoma",
"logical_definition": null,
"original_id": "HP:0000030",
"relationships": [
{
"predicate": "subClassOf",
"target": "Gonadoblastoma"
},
{
"predicate": "subClassOf",
"target": "TesticularNeoplasm"
}
]
} | 0 | {
"document": "Testicular gonadoblastoma The presence of a gonadoblastoma of the testis. [{'predicate': 'subClassOf', 'target': 'Gonadoblastoma'}, {'predicate': 'subClassOf', 'target': 'TesticularNeoplasm'}]"
} |
{
"aliases": null,
"definition": "Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.",
"id": "TesticularIschemia",
"label": "Testicular ischemia",
"logical_definition": null,
"original_id": "HP:0033403",
"relationships": [
{
"predicate": "subClassOf",
"target": "TissueIschemia"
}
]
} | 0 | {
"document": "Testicular ischemia Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis. [{'predicate': 'subClassOf', 'target': 'TissueIschemia'}]"
} |
{
"aliases": null,
"definition": "Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.",
"id": "TesticularLipomatosis",
"label": "Testicular lipomatosis",
"logical_definition": null,
"original_id": "HP:0025476",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
},
{
"predicate": "subClassOf",
"target": "MultipleLipomas"
}
]
} | 0 | {
"document": "Testicular lipomatosis Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}, {'predicate': 'subClassOf', 'target': 'MultipleLipomas'}]"
} |
{
"aliases": null,
"definition": "An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.",
"id": "TesticularMass",
"label": "Testicular mass",
"logical_definition": null,
"original_id": "HP:0032404",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
}
]
} | 0 | {
"document": "Testicular mass An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}]"
} |
{
"aliases": null,
"definition": "A Malignant mesothelioma of the testis.",
"id": "TesticularMesothelioma",
"label": "Testicular mesothelioma",
"logical_definition": null,
"original_id": "HP:0100005",
"relationships": [
{
"predicate": "subClassOf",
"target": "TesticularNeoplasm"
},
{
"predicate": "subClassOf",
"target": "MalignantMesothelioma"
}
]
} | 0 | {
"document": "Testicular mesothelioma A Malignant mesothelioma of the testis. [{'predicate': 'subClassOf', 'target': 'TesticularNeoplasm'}, {'predicate': 'subClassOf', 'target': 'MalignantMesothelioma'}]"
} |
{
"aliases": null,
"definition": "The deposition of calcium phosphate microliths within the seminiferous tubules.",
"id": "TesticularMicrolithiasis",
"label": "Testicular microlithiasis",
"logical_definition": null,
"original_id": "HP:0012215",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
}
]
} | 0 | {
"document": "Testicular microlithiasis The deposition of calcium phosphate microliths within the seminiferous tubules. [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}]"
} |
{
"aliases": null,
"definition": "The presence of a neoplasm of the testis.",
"id": "TesticularNeoplasm",
"label": "Testicular neoplasm",
"logical_definition": null,
"original_id": "HP:0010788",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
},
{
"predicate": "subClassOf",
"target": "GonadalNeoplasm"
},
{
"predicate": "subClassOf",
"target": "NeoplasmOfTheMaleExternalGenitalia"
}
]
} | 0 | {
"document": "Testicular neoplasm The presence of a neoplasm of the testis. [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}, {'predicate': 'subClassOf', 'target': 'GonadalNeoplasm'}, {'predicate': 'subClassOf', 'target': 'NeoplasmOfTheMaleExternalGenitalia'}]"
} |
{
"aliases": null,
"definition": "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.",
"id": "TesticularPain",
"label": "Testicular pain",
"logical_definition": null,
"original_id": "HP:0033839",
"relationships": [
{
"predicate": "subClassOf",
"target": "Pain"
}
]
} | 0 | {
"document": "Testicular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes. [{'predicate': 'subClassOf', 'target': 'Pain'}]"
} |
{
"aliases": null,
"definition": "The presence of a seminoma, an undifferentiated germ cell tumor of the testis.",
"id": "TesticularSeminoma",
"label": "Testicular seminoma",
"logical_definition": null,
"original_id": "HP:0100617",
"relationships": [
{
"predicate": "subClassOf",
"target": "TesticularNeoplasm"
},
{
"predicate": "subClassOf",
"target": "Germinoma"
}
]
} | 0 | {
"document": "Testicular seminoma The presence of a seminoma, an undifferentiated germ cell tumor of the testis. [{'predicate': 'subClassOf', 'target': 'TesticularNeoplasm'}, {'predicate': 'subClassOf', 'target': 'Germinoma'}]"
} |
{
"aliases": null,
"definition": "The presence of a teratoma of the testis.",
"id": "TesticularTeratoma",
"label": "Testicular teratoma",
"logical_definition": null,
"original_id": "HP:0100616",
"relationships": [
{
"predicate": "subClassOf",
"target": "Teratoma"
},
{
"predicate": "subClassOf",
"target": "TesticularNeoplasm"
}
]
} | 0 | {
"document": "Testicular teratoma The presence of a teratoma of the testis. [{'predicate': 'subClassOf', 'target': 'Teratoma'}, {'predicate': 'subClassOf', 'target': 'TesticularNeoplasm'}]"
} |
{
"aliases": null,
"definition": "Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.",
"id": "TesticularTorsion",
"label": "Testicular torsion",
"logical_definition": null,
"original_id": "HP:0100813",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalTestisMorphology"
}
]
} | 0 | {
"document": "Testicular torsion Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. [{'predicate': 'subClassOf', 'target': 'AbnormalTestisMorphology'}]"
} |
{
"aliases": null,
"definition": "A vein that carries deoxygenated blood from a single male gonad. It is the male equivalent of the ovarian vein, and is the venous counterpart of the testicular artery. It is a paired vein, with one supplying each testis.",
"id": "TesticularVein",
"label": "testicular vein",
"logical_definition": null,
"original_id": "UBERON:0001144",
"relationships": [
{
"predicate": "InLateralSideOf",
"target": "MulticellularOrganism"
},
{
"predicate": "ConnectedTo",
"target": "PosteriorVenaCava"
},
{
"predicate": "ConnectedTo",
"target": "PampiniformPlexus"
},
{
"predicate": "SexuallyHomologousTo",
"target": "OvarianVein"
},
{
"predicate": "subClassOf",
"target": "Vein"
}
]
} | 0 | {
"document": "testicular vein A vein that carries deoxygenated blood from a single male gonad. It is the male equivalent of the ovarian vein, and is the venous counterpart of the testicular artery. It is a paired vein, with one supplying each testis. [{'predicate': 'InLateralSideOf', 'target': 'MulticellularOrganism'}, {'predicate': 'ConnectedTo', 'target': 'PosteriorVenaCava'}, {'predicate': 'ConnectedTo', 'target': 'PampiniformPlexus'}, {'predicate': 'SexuallyHomologousTo', 'target': 'OvarianVein'}, {'predicate': 'subClassOf', 'target': 'Vein'}]"
} |
{
"aliases": null,
"definition": "A gonad of a male animal. A gonad produces and releases sperm.",
"id": "Testis",
"label": "testis",
"logical_definition": null,
"original_id": "UBERON:0000473",
"relationships": [
{
"predicate": "DevelopsFrom",
"target": "IndifferentGonad"
},
{
"predicate": "subClassOf",
"target": "Gonad"
}
]
} | 0 | {
"document": "testis A gonad of a male animal. A gonad produces and releases sperm. [{'predicate': 'DevelopsFrom', 'target': 'IndifferentGonad'}, {'predicate': 'subClassOf', 'target': 'Gonad'}]"
} |
{
"aliases": null,
"definition": "The testis cords are precursors to the rete testis. They play several different roles in the development of the male genitals[WP].",
"id": "TestisSexCord",
"label": "testis sex cord",
"logical_definition": null,
"original_id": "UBERON:0005297",
"relationships": [
{
"predicate": "ImmediateTransformationOf",
"target": "PrimitiveSexCordOfIndifferentGonad"
}
]
} | 0 | {
"document": "testis sex cord The testis cords are precursors to the rete testis. They play several different roles in the development of the male genitals[WP]. [{'predicate': 'ImmediateTransformationOf', 'target': 'PrimitiveSexCordOfIndifferentGonad'}]"
} |
{
"aliases": null,
"definition": "An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5..",
"id": "Testosterone",
"label": "testosterone",
"logical_definition": null,
"original_id": "CHEBI:17347",
"relationships": [
{
"predicate": "HasRole",
"target": "Androgen"
},
{
"predicate": "HasRole",
"target": "MouseMetabolite"
},
{
"predicate": "HasRole",
"target": "HumanMetabolite"
},
{
"predicate": "HasRole",
"target": "DaphniaMagnaMetabolite"
},
{
"predicate": "subClassOf",
"target": "C19Steroid"
},
{
"predicate": "subClassOf",
"target": "17betaHydroxySteroid"
},
{
"predicate": "subClassOf",
"target": "3OxoDelta4_steroid"
},
{
"predicate": "subClassOf",
"target": "Androstanoid"
}
]
} | 0 | {
"document": "testosterone An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.. [{'predicate': 'HasRole', 'target': 'Androgen'}, {'predicate': 'HasRole', 'target': 'MouseMetabolite'}, {'predicate': 'HasRole', 'target': 'HumanMetabolite'}, {'predicate': 'HasRole', 'target': 'DaphniaMagnaMetabolite'}, {'predicate': 'subClassOf', 'target': 'C19Steroid'}, {'predicate': 'subClassOf', 'target': '17betaHydroxySteroid'}, {'predicate': 'subClassOf', 'target': '3OxoDelta4_steroid'}, {'predicate': 'subClassOf', 'target': 'Androstanoid'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TestosteroneSecretingCell",
"label": "testosterone secreting cell",
"logical_definition": null,
"original_id": "CL:0000177",
"relationships": null
} | 0 | {
"document": "testosterone secreting cell None None"
} |
{
"aliases": null,
"definition": "The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.",
"id": "TestosteroneSecretion",
"label": "testosterone secretion",
"logical_definition": null,
"original_id": "GO:0035936",
"relationships": [
{
"predicate": "subClassOf",
"target": "OrganicHydroxyCompoundTransport"
},
{
"predicate": "subClassOf",
"target": "HormoneSecretion"
},
{
"predicate": "subClassOf",
"target": "LipidExportFromCell"
}
]
} | 0 | {
"document": "testosterone secretion The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5. [{'predicate': 'subClassOf', 'target': 'OrganicHydroxyCompoundTransport'}, {'predicate': 'subClassOf', 'target': 'HormoneSecretion'}, {'predicate': 'subClassOf', 'target': 'LipidExportFromCell'}]"
} |
{
"aliases": null,
"definition": "A sudden, involuntary contraction of a muscle or group of muscles associated with strychnine poisoning and tetanus.",
"id": "TetanicSpasm",
"label": "tetanic spasm",
"logical_definition": null,
"original_id": "NBO:0000587",
"relationships": [
{
"predicate": "subClassOf",
"target": "Spasm"
}
]
} | 0 | {
"document": "tetanic spasm A sudden, involuntary contraction of a muscle or group of muscles associated with strychnine poisoning and tetanus. [{'predicate': 'subClassOf', 'target': 'Spasm'}]"
} |
{
"aliases": null,
"definition": "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.",
"id": "Tetany",
"label": "Tetany",
"logical_definition": null,
"original_id": "HP:0001281",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalMusclePhysiology"
}
]
} | 0 | {
"document": "Tetany A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. [{'predicate': 'subClassOf', 'target': 'AbnormalMusclePhysiology'}]"
} |
{
"aliases": null,
"definition": "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.",
"id": "TetheredCord",
"label": "Tethered cord",
"logical_definition": null,
"original_id": "HP:0002144",
"relationships": [
{
"predicate": "subClassOf",
"target": "AbnormalConusTerminalisMorphology"
}
]
} | 0 | {
"document": "Tethered cord During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. [{'predicate': 'subClassOf', 'target': 'AbnormalConusTerminalisMorphology'}]"
} |
{
"aliases": null,
"definition": "Amelia of all four limbs.",
"id": "Tetraamelia",
"label": "Tetraamelia",
"logical_definition": null,
"original_id": "HP:0003057",
"relationships": [
{
"predicate": "subClassOf",
"target": "Amelia"
}
]
} | 0 | {
"document": "Tetraamelia Amelia of all four limbs. [{'predicate': 'subClassOf', 'target': 'Amelia'}]"
} |
{
"aliases": null,
"definition": "A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3.",
"id": "Tetradecanoate",
"label": "tetradecanoate",
"logical_definition": null,
"original_id": "CHEBI:30807",
"relationships": [
{
"predicate": "HasRole",
"target": "SaccharomycesCerevisiaeMetabolite"
},
{
"predicate": "HasRole",
"target": "HumanMetabolite"
},
{
"predicate": "obo:chebi#is_conjugate_base_of",
"target": "TetradecanoicAcid"
},
{
"predicate": "subClassOf",
"target": "LongChainFattyAcidAnion"
},
{
"predicate": "subClassOf",
"target": "StraightChainSaturatedFattyAcidAnion"
},
{
"predicate": "subClassOf",
"target": "OmegaMethylFattyAcidAnion"
},
{
"predicate": "subClassOf",
"target": "23SaturatedFattyAcid1_"
},
{
"predicate": "subClassOf",
"target": "FattyAcidAnion140"
},
{
"predicate": "subClassOf",
"target": "2SaturatedFattyAcidAnion"
}
]
} | 0 | {
"document": "tetradecanoate A long-chain fatty acid anion that is the conjugate base of myristic acid; major species at pH 7.3. [{'predicate': 'HasRole', 'target': 'SaccharomycesCerevisiaeMetabolite'}, {'predicate': 'HasRole', 'target': 'HumanMetabolite'}, {'predicate': 'obo:chebi#is_conjugate_base_of', 'target': 'TetradecanoicAcid'}, {'predicate': 'subClassOf', 'target': 'LongChainFattyAcidAnion'}, {'predicate': 'subClassOf', 'target': 'StraightChainSaturatedFattyAcidAnion'}, {'predicate': 'subClassOf', 'target': 'OmegaMethylFattyAcidAnion'}, {'predicate': 'subClassOf', 'target': '23SaturatedFattyAcid1_'}, {'predicate': 'subClassOf', 'target': 'FattyAcidAnion140'}, {'predicate': 'subClassOf', 'target': '2SaturatedFattyAcidAnion'}]"
} |
{
"aliases": null,
"definition": "A straight-chain, fourteen-carbon, long-chain saturated fatty acid mostly found in milk fat.",
"id": "TetradecanoicAcid",
"label": "tetradecanoic acid",
"logical_definition": null,
"original_id": "CHEBI:28875",
"relationships": [
{
"predicate": "HasRole",
"target": "HumanMetabolite"
},
{
"predicate": "HasRole",
"target": "EC3111_carboxylesterase_inhibitor"
},
{
"predicate": "HasRole",
"target": "DaphniaMagnaMetabolite"
},
{
"predicate": "HasRole",
"target": "AlgalMetabolite"
},
{
"predicate": "obo:chebi#is_conjugate_acid_of",
"target": "Tetradecanoate"
},
{
"predicate": "subClassOf",
"target": "LongChainFattyAcid"
},
{
"predicate": "subClassOf",
"target": "StraightChainSaturatedFattyAcid"
}
]
} | 0 | {
"document": "tetradecanoic acid A straight-chain, fourteen-carbon, long-chain saturated fatty acid mostly found in milk fat. [{'predicate': 'HasRole', 'target': 'HumanMetabolite'}, {'predicate': 'HasRole', 'target': 'EC3111_carboxylesterase_inhibitor'}, {'predicate': 'HasRole', 'target': 'DaphniaMagnaMetabolite'}, {'predicate': 'HasRole', 'target': 'AlgalMetabolite'}, {'predicate': 'obo:chebi#is_conjugate_acid_of', 'target': 'Tetradecanoate'}, {'predicate': 'subClassOf', 'target': 'LongChainFattyAcid'}, {'predicate': 'subClassOf', 'target': 'StraightChainSaturatedFattyAcid'}]"
} |
{
"aliases": null,
"definition": "A folate obtained by deprotonation of any tetrahydrofolic acid.",
"id": "Tetrahydrofolate",
"label": "tetrahydrofolate",
"logical_definition": null,
"original_id": "CHEBI:67016",
"relationships": [
{
"predicate": "obo:chebi#is_conjugate_base_of",
"target": "TetrahydrofolicAcid"
},
{
"predicate": "subClassOf",
"target": "Folates"
}
]
} | 0 | {
"document": "tetrahydrofolate A folate obtained by deprotonation of any tetrahydrofolic acid. [{'predicate': 'obo:chebi#is_conjugate_base_of', 'target': 'TetrahydrofolicAcid'}, {'predicate': 'subClassOf', 'target': 'Folates'}]"
} |
{
"aliases": null,
"definition": "A group of heterocyclic compounds based on the 5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid units.",
"id": "TetrahydrofolicAcid",
"label": "tetrahydrofolic acid",
"logical_definition": null,
"original_id": "CHEBI:26907",
"relationships": [
{
"predicate": "obo:chebi#is_conjugate_acid_of",
"target": "Tetrahydrofolate"
},
{
"predicate": "subClassOf",
"target": "FolicAcids"
}
]
} | 0 | {
"document": "tetrahydrofolic acid A group of heterocyclic compounds based on the 5,6,7,8-tetrahydropteroic acid skeleton conjugated with one or more L-glutamic acid units. [{'predicate': 'obo:chebi#is_conjugate_acid_of', 'target': 'Tetrahydrofolate'}, {'predicate': 'subClassOf', 'target': 'FolicAcids'}]"
} |
{
"aliases": null,
"definition": "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.",
"id": "TetralogyOfFallot",
"label": "Tetralogy of Fallot",
"logical_definition": null,
"original_id": "HP:0001636",
"relationships": [
{
"predicate": "subClassOf",
"target": "ConotruncalDefect"
}
]
} | 0 | {
"document": "Tetralogy of Fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. [{'predicate': 'subClassOf', 'target': 'ConotruncalDefect'}]"
} |
{
"aliases": null,
"definition": "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.",
"id": "TetralogyOfFallotWithAbsentPulmonaryValve",
"label": "Tetralogy of Fallot with absent pulmonary valve",
"logical_definition": null,
"original_id": "HP:0011659",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetralogyOfFallot"
},
{
"predicate": "subClassOf",
"target": "AbsenceOfThePulmonaryValve"
}
]
} | 0 | {
"document": "Tetralogy of Fallot with absent pulmonary valve Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. [{'predicate': 'subClassOf', 'target': 'TetralogyOfFallot'}, {'predicate': 'subClassOf', 'target': 'AbsenceOfThePulmonaryValve'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TetralogyOfFallotWithAbsentSubarterialConus",
"label": "Tetralogy of Fallot with absent subarterial conus",
"logical_definition": null,
"original_id": "HP:0011676",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetralogyOfFallot"
}
]
} | 0 | {
"document": "Tetralogy of Fallot with absent subarterial conus None [{'predicate': 'subClassOf', 'target': 'TetralogyOfFallot'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TetralogyOfFallotWithAtrioventricularCanalDefect",
"label": "Tetralogy of Fallot with atrioventricular canal defect",
"logical_definition": null,
"original_id": "HP:0011677",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetralogyOfFallot"
}
]
} | 0 | {
"document": "Tetralogy of Fallot with atrioventricular canal defect None [{'predicate': 'subClassOf', 'target': 'TetralogyOfFallot'}]"
} |
{
"aliases": null,
"definition": "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.",
"id": "TetralogyOfFallotWithPulmonaryAtresia",
"label": "Tetralogy of Fallot with pulmonary atresia",
"logical_definition": null,
"original_id": "HP:0012516",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetralogyOfFallot"
}
]
} | 0 | {
"document": "Tetralogy of Fallot with pulmonary atresia An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. [{'predicate': 'subClassOf', 'target': 'TetralogyOfFallot'}]"
} |
{
"aliases": null,
"definition": "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).",
"id": "TetralogyOfFallotWithPulmonaryAtresiaAndMajorAortopulmonaryCollateralArteries",
"label": "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries",
"logical_definition": null,
"original_id": "HP:0011678",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetralogyOfFallotWithPulmonaryAtresia"
}
]
} | 0 | {
"document": "Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). [{'predicate': 'subClassOf', 'target': 'TetralogyOfFallotWithPulmonaryAtresia'}]"
} |
{
"aliases": null,
"definition": "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.",
"id": "TetralogyOfFallotWithPulmonaryStenosis",
"label": "Tetralogy of Fallot with pulmonary stenosis",
"logical_definition": null,
"original_id": "HP:0011679",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetralogyOfFallot"
}
]
} | 0 | {
"document": "Tetralogy of Fallot with pulmonary stenosis The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. [{'predicate': 'subClassOf', 'target': 'TetralogyOfFallot'}]"
} |
{
"aliases": null,
"definition": "Weakness of all four limbs.",
"id": "Tetraparesis",
"label": "Tetraparesis",
"logical_definition": null,
"original_id": "HP:0002273",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetraplegiaTetraparesis"
}
]
} | 0 | {
"document": "Tetraparesis Weakness of all four limbs. [{'predicate': 'subClassOf', 'target': 'TetraplegiaTetraparesis'}]"
} |
{
"aliases": null,
"definition": "Phocomelia involving all four extremities.",
"id": "Tetraphocomelia",
"label": "Tetraphocomelia",
"logical_definition": null,
"original_id": "HP:0030721",
"relationships": [
{
"predicate": "subClassOf",
"target": "Phocomelia"
}
]
} | 0 | {
"document": "Tetraphocomelia Phocomelia involving all four extremities. [{'predicate': 'subClassOf', 'target': 'Phocomelia'}]"
} |
{
"aliases": null,
"definition": "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.",
"id": "Tetraplegia",
"label": "Tetraplegia",
"logical_definition": null,
"original_id": "HP:0002445",
"relationships": [
{
"predicate": "subClassOf",
"target": "TetraplegiaTetraparesis"
}
]
} | 0 | {
"document": "Tetraplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. [{'predicate': 'subClassOf', 'target': 'TetraplegiaTetraparesis'}]"
} |
{
"aliases": null,
"definition": "Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.",
"id": "TetraplegiaTetraparesis",
"label": "Tetraplegia/tetraparesis",
"logical_definition": null,
"original_id": "HP:0030182",
"relationships": [
{
"predicate": "subClassOf",
"target": "WeaknessDueToUpperMotorNeuronDysfunction"
}
]
} | 0 | {
"document": "Tetraplegia/tetraparesis Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. [{'predicate': 'subClassOf', 'target': 'WeaknessDueToUpperMotorNeuronDysfunction'}]"
} |
{
"aliases": null,
"definition": "The bone forming the forehead and roof of the eye orbit.",
"id": "TetrapodFrontalBone",
"label": "tetrapod frontal bone",
"logical_definition": null,
"original_id": "UBERON:0000209",
"relationships": [
{
"predicate": "PartOf",
"target": "Neurocranium"
},
{
"predicate": "PartOf",
"target": "Dermatocranium"
},
{
"predicate": "Overlaps",
"target": "OrbitOfSkull"
},
{
"predicate": "subClassOf",
"target": "IntramembranousBone"
},
{
"predicate": "subClassOf",
"target": "FlatBone"
}
]
} | 0 | {
"document": "tetrapod frontal bone The bone forming the forehead and roof of the eye orbit. [{'predicate': 'PartOf', 'target': 'Neurocranium'}, {'predicate': 'PartOf', 'target': 'Dermatocranium'}, {'predicate': 'Overlaps', 'target': 'OrbitOfSkull'}, {'predicate': 'subClassOf', 'target': 'IntramembranousBone'}, {'predicate': 'subClassOf', 'target': 'FlatBone'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TetrapodFrontalBonePrimordium",
"label": "tetrapod frontal bone primordium",
"logical_definition": null,
"original_id": "UBERON:0006236",
"relationships": null
} | 0 | {
"document": "tetrapod frontal bone primordium None None"
} |
{
"aliases": null,
"definition": "In humans: bone forming side and roof of cranium. Each bone is irregularly quadrilateral in form, and has two surfaces, four borders, and four angles.",
"id": "TetrapodParietalBone",
"label": "tetrapod parietal bone",
"logical_definition": null,
"original_id": "UBERON:0000210",
"relationships": [
{
"predicate": "PartOf",
"target": "Neurocranium"
},
{
"predicate": "PartOf",
"target": "VaultOfSkull"
},
{
"predicate": "ContributesToMorphologyOf",
"target": "VaultOfSkull"
},
{
"predicate": "subClassOf",
"target": "IntramembranousBone"
},
{
"predicate": "subClassOf",
"target": "FlatBone"
}
]
} | 0 | {
"document": "tetrapod parietal bone In humans: bone forming side and roof of cranium. Each bone is irregularly quadrilateral in form, and has two surfaces, four borders, and four angles. [{'predicate': 'PartOf', 'target': 'Neurocranium'}, {'predicate': 'PartOf', 'target': 'VaultOfSkull'}, {'predicate': 'ContributesToMorphologyOf', 'target': 'VaultOfSkull'}, {'predicate': 'subClassOf', 'target': 'IntramembranousBone'}, {'predicate': 'subClassOf', 'target': 'FlatBone'}]"
} |
{
"aliases": null,
"definition": null,
"id": "TetrapodParietalBonePrimordium",
"label": "tetrapod parietal bone primordium",
"logical_definition": null,
"original_id": "UBERON:0006274",
"relationships": [
{
"predicate": "PartOf",
"target": "Embryo"
}
]
} | 0 | {
"document": "tetrapod parietal bone primordium None [{'predicate': 'PartOf', 'target': 'Embryo'}]"
} |
{
"aliases": null,
"definition": "A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.",
"id": "Tetrapyrrole",
"label": "tetrapyrrole",
"logical_definition": null,
"original_id": "CHEBI:26932",
"relationships": [
{
"predicate": "subClassOf",
"target": "Heteroarene"
},
{
"predicate": "subClassOf",
"target": "Polypyrrole"
}
]
} | 0 | {
"document": "tetrapyrrole A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. [{'predicate': 'subClassOf', 'target': 'Heteroarene'}, {'predicate': 'subClassOf', 'target': 'Polypyrrole'}]"
} |
{
"aliases": null,
"definition": "The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.",
"id": "TetrapyrroleBiosyntheticProcess",
"label": "tetrapyrrole biosynthetic process",
"logical_definition": null,
"original_id": "GO:0033014",
"relationships": [
{
"predicate": "subClassOf",
"target": "HeterocycleBiosyntheticProcess"
},
{
"predicate": "subClassOf",
"target": "AromaticCompoundBiosyntheticProcess"
},
{
"predicate": "subClassOf",
"target": "TetrapyrroleMetabolicProcess"
},
{
"predicate": "subClassOf",
"target": "CellularNitrogenCompoundBiosyntheticProcess"
},
{
"predicate": "subClassOf",
"target": "OrganicCyclicCompoundBiosyntheticProcess"
},
{
"predicate": "subClassOf",
"target": "OrganonitrogenCompoundBiosyntheticProcess"
}
]
} | 0 | {
"document": "tetrapyrrole biosynthetic process The chemical reactions and pathways leading to the formation of tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. [{'predicate': 'subClassOf', 'target': 'HeterocycleBiosyntheticProcess'}, {'predicate': 'subClassOf', 'target': 'AromaticCompoundBiosyntheticProcess'}, {'predicate': 'subClassOf', 'target': 'TetrapyrroleMetabolicProcess'}, {'predicate': 'subClassOf', 'target': 'CellularNitrogenCompoundBiosyntheticProcess'}, {'predicate': 'subClassOf', 'target': 'OrganicCyclicCompoundBiosyntheticProcess'}, {'predicate': 'subClassOf', 'target': 'OrganonitrogenCompoundBiosyntheticProcess'}]"
} |
{
"aliases": null,
"definition": "The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.",
"id": "TetrapyrroleMetabolicProcess",
"label": "tetrapyrrole metabolic process",
"logical_definition": null,
"original_id": "GO:0033013",
"relationships": [
{
"predicate": "subClassOf",
"target": "CellularAromaticCompoundMetabolicProcess"
},
{
"predicate": "subClassOf",
"target": "HeterocycleMetabolicProcess"
},
{
"predicate": "subClassOf",
"target": "OrganicCyclicCompoundMetabolicProcess"
},
{
"predicate": "subClassOf",
"target": "OrganonitrogenCompoundMetabolicProcess"
}
]
} | 0 | {
"document": "tetrapyrrole metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. [{'predicate': 'subClassOf', 'target': 'CellularAromaticCompoundMetabolicProcess'}, {'predicate': 'subClassOf', 'target': 'HeterocycleMetabolicProcess'}, {'predicate': 'subClassOf', 'target': 'OrganicCyclicCompoundMetabolicProcess'}, {'predicate': 'subClassOf', 'target': 'OrganonitrogenCompoundMetabolicProcess'}]"
} |
{
"aliases": null,
"definition": "A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif.",
"id": "Tetraspanin",
"label": "tetraspanin",
"logical_definition": null,
"original_id": "PR:000001403",
"relationships": [
{
"predicate": "subClassOf",
"target": "Protein_PR:000000001"
}
]
} | 0 | {
"document": "tetraspanin A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. [{'predicate': 'subClassOf', 'target': 'Protein_PR:000000001'}]"
} |
{
"aliases": null,
"definition": "A C40 terpene.",
"id": "Tetraterpene",
"label": "tetraterpene",
"logical_definition": null,
"original_id": "CHEBI:35193",
"relationships": [
{
"predicate": "subClassOf",
"target": "Terpene"
}
]
} | 0 | {
"document": "tetraterpene A C40 terpene. [{'predicate': 'subClassOf', 'target': 'Terpene'}]"
} |
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