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Elevated circulating 2-aminoadipic acid concentration
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HP_6000278 |
[The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal.] |
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glutamine
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CHEBI_28300 |
[An alpha-amino acid that consists of butyric acid bearing an amino substituent at position 2 and a carbamoyl substituent at position 4.] |
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Elevated circulating glycylproline concentration
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HP_6000271 |
[Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).] |
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Abnormal circulating collagen degradation product concentration
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HP_0033386 |
[Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.] |
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Elevated CSF saccharopine concentration
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HP_6000270 |
[Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal.] |
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Elevated circulating decanoylcarnitine concentration
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HP_6000273 |
[Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.] |
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Elevated circulating medium-chain acylcarnitine concentration
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HP_0035017 |
[Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),] |
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Elevated circulating octanoylcarnitine concentration
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HP_6000272 |
[Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.] |
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4-hydroxyphenyllactic aciduria
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HP_6000275 |
[Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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2--hydroxyphenylacetic aciduria
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HP_6000274 |
[Increased concentration of 2-hydroxyphenylacetic acid in the urine.] |
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2-oxoadipic aciduria
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HP_6000266 |
[The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal.] |
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Elevated urinary 3-hydroxykynurenine level
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HP_6000265 |
[The amount of 3-hydroxykynurenine in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Elevated circulating pipecolic acid concentration
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HP_6000268 |
[The concentration of pipecolic acid in the blood circulation is above the upper limit of normal.] |
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Elevated circulating methionine sulfoxide concentration
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HP_6000267 |
[The concentration of methionine sulfoxide in the blood circulation is above the upper limit of normal.] |
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Elevated urinary pipecolic acid level
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HP_6000269 |
[The amount of pipecolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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regulation of apoptotic process involved in morphogenesis
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GO_1902337 |
[Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis.] |
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negative regulation of apoptotic process involved in morphogenesis
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GO_1902338 |
[Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis.] |
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positive regulation of apoptotic process involved in morphogenesis
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GO_1902339 |
[Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis.] |
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History of recent plant thorn skin puncture
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HP_6000260 |
[A history of a plant skin puncture preceding the current presenting condition by hours, days, or weeks.] |
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Pseudoglioma
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HP_6000262 |
[A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma.] |