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Decreased serum zinc
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HP_0031831 |
[A reduced concentration of zinc in the blood.] |
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oogonial cell
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CL_0000024 |
[An undifferentiated germ cell that proliferates rapidly and gives rise to oocytes.] |
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Symmetrical progressive peripheral demyelination
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HP_0006873 |
[A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.] |
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Lobar holoprosencephaly
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HP_0006870 |
[A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.] |
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PP cell of intestine
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CL_0002680 |
[A PP cell found in intestine.] |
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mitochondrial matrix
|
GO_0005759 |
[The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.] |
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pancreatic artery
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UBERON_0039261 |
|
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Freezing of gait
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HP_0031825 |
[Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.] |
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Short distal phalanx of the 5th finger
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HP_0004227 |
[Hypoplastic/small distal phalanx of the fifth finger.] |
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Borderline intellectual disability
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HP_0006889 |
[Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.] |
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Reduced hypoxanthine-guanine phosphoribosyltransferase level
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HP_0031823 |
[Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.] |
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Abnormal hypoxanthine-guanine phosphoribosyltransferase level
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HP_0031821 |
[Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.] |
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Hepatic mastocytosis
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HP_0031824 |
[Liver mast cell infiltration.] |
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obsolete Intellectual disability, progressive
|
HP_0006887 |
|
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Meningoencephalocele
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HP_0006888 |
|
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Ivory epiphysis of the distal phalanx of the 5th finger
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HP_0004223 |
[Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.] |
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Elevated hypoxanthine-guanine phosphoribosyltransferase level
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HP_0031822 |
[Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.] |
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Curved distal phalanx of the 5th finger
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HP_0004226 |
[Curved appearance of the distal phalanx of the 5th (little) finger.] |
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mitochondrial ribosome
|
GO_0005761 |
[A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes.] |
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Decreased waist to hip ratio
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HP_0031820 |
[Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.] |