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iliac pre-cartilage condensation
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UBERON_0006247 |
[An iliac endochondral element that is composed primarily of a pre-cartilage condensation.] |
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L-cysteine
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CHEBI_17561 |
[An optically active form of cysteine having L-configuration.] |
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Gallbladder polyposis
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HP_6001261 |
[Multiple polyps arising from the gallbladder mucosal wall.] |
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Gallbladder polyp
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HP_6001260 |
[A gallbladder (GB) polyp is a growth that projects from the lining of the inside wall of the gallbladder into the lumen of the GB. GB polyps are a common incidental sonographic finding, the vast majority of which are benign.] |
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Medial epicondyle apophysitis
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HP_6001263 |
[Medial epicondyle apophysitis (MEA), also known as little league elbow, is an overuse injury prevalent among adolescent athletes whose sport involves repetitive overhand throwing, racket use, or other overhead arm motions. The medial epicondyle is a bony protrusion on the medial elbow with its own ossification center, separate from the main distal humeral physis, known as an apophysis. Medial epicondyle apophysitis occurs due to excessive and repetitive valgus stress placed on the apophysis before its closure. Over time, the repetitive strain results in a traction-type injury and may cause pathologic widening and inflammation of the apophysis or even an avulsion fracture.] |
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Abnormal medial epicondyle morphology
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HP_6001435 |
[A structural anomaly of the medial epicondyle, which is the site of the attachment of various muscles, including the radial and ulnar flexor of the wrist, the superficial flexor of the fingers, the palmaris longus and the pronator teres muscle.] |
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Biceps tendon rupture
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HP_6001262 |
[Discontinuity of the biceps tendon as observed by ultrasound or magnetic resonance (MR) imaging.] |
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uracil
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CHEBI_17568 |
[A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription.] |
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Localized to the lower eyelid
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HP_6001265 |
[A descriptor indicating that a condition, lesion, or abnormality is confined to the lower eyelid. This localization may be relevant for various ocular conditions, including infections, structural abnormalities, or dermatological diseases affecting the lower eyelid region.] |
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Thumb carpometacarpal subluxation
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HP_6001264 |
[A partial (subluxation) loss of alignment at the base of the thumb, where the first metacarpal bone meets the trapezium bone of the wrist. Thumb radiographs showing carpometacarpal (CMC) joint space widening and/or incongruity of the joint space between thumb metacarpal bone and the trapezium bone.] |
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Cortical superficial CNS hemosiderin deposition
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HP_6001256 |
[A type of superficial CNS hemosiderin deposition that most commonly occurs due to iron deposits in the superficial cortical layers following bleeding from leptomeningeal vessels, most often from cerebral amyloid angiopathy in patients aged 55 or older.] |
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Superficial CNS hemosiderin deposition
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HP_6001255 |
[An anomaly that can be ascertained by iron-specific magnetic resonance imaging (MRI) sequences such as gradient-echo (GRE) and susceptibility-weighted imaging (SWI). Superficial siderosis of the central nervous system is a chronic condition due to persistent or repeated long-term bleeding into the subarachnoid space, leading to subpial hemosiderin deposition. Hemosiderin deposition on MRI is seen as a T2 hypointensity and preferentially outlines the cerebellum and brainstem surface.] |
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Knee joint hypermobility
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HP_0045086 |
[The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).] |
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Hip joint hypermobility
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HP_0045087 |
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Pulmonary hyperplasia
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HP_6001258 |
[Pulmonary Hyperplasia is an absolute increase in the number of alveoli, which are mildly enlarged. Pulmonary hyperplasia has been also referred to as polyalveolar lobe and type 3 cystic adenomatoid malformation.] |
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Limb myoclonus
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HP_0045084 |
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Infratentorial superficial CNS hemosiderin deposition
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HP_6001257 |
[A type of superficial CNS hemosiderin deposition that involves the cerebellum and brainstem, most commonly the superior vermis, quadrigeminal plate, and basal cerebral surfaces. Cerebellar atrophy, particularly the superior vermis and anterior cerebellar hemispheres, can also be seen on a computed tomography scan of the head. The MRI of the spinal cord may reveal myelomalacia, syringomyelia, owl-eyes, or snake-eyes signs. The most common etiology for classic or primary infratentorial superficial siderosis is spinal dural defects, often dural tears.] |
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Atrophy of masseter muscle
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HP_0045085 |
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Decreased body mass index
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HP_0045082 |
[Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.] |
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Abnormality of body mass index
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HP_0045081 |
[Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.] |