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Decreased circulating carnitine concentration
|
HP_0003234 |
[Concentration of carnitine in the blood circulation below the lower limit of normal.] |
|
Rhonchi
|
HP_0030831 |
[Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.] |
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Decreased HDL cholesterol concentration
|
HP_0003233 |
[An decreased concentration of high-density lipoprotein cholesterol in the blood.] |
|
Vitreous strands
|
HP_0030832 |
[Fiber- or rope-like opacities located within the vitreous humor.] |
|
endothelial cell of central vein of liver
|
CL_4033061 |
[An endothelial cell that is part of a central vein of liver.] |
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Radial deviation of thumb terminal phalanx
|
HP_0005895 |
|
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Hypermethioninemia
|
HP_0003235 |
[An increased concentration of methionine in the blood.] |
|
Crackles
|
HP_0030830 |
[Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.] |
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Double first metacarpals
|
HP_0005894 |
[Duplication of the metacarpal I bones.] |
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Supernumerary metacarpal bones
|
HP_0005917 |
[The presence of more than the normal number of metacarpal bones.] |
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Mitochondrial malic enzyme reduced
|
HP_0003232 |
|
|
Progressive forearm bowing
|
HP_0005891 |
[Progressive bending or abnormal curvature of the forearm skeleton.] |
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Progressive bowing of long bones
|
HP_0006383 |
[Progressive bending or abnormal curvature of a long bone.] |
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Proximal tibial and fibular fusion
|
HP_0005892 |
[A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula.] |
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Synostosis involving the tibia
|
HP_0005929 |
|
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Synostosis involving the fibula
|
HP_0005928 |
|
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Hypertyrosinemia
|
HP_0003231 |
[An increased concentration of tyrosine in the blood.] |
|
Hyperostosis cranialis interna
|
HP_0005890 |
[Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.] |
|
Cranial hyperostosis
|
HP_0004437 |
[Excessive growth of the bones of cranium, i.e., of the skull.] |
|
Finger pain
|
HP_0030837 |
[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.] |