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Disproportionate short stature
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HP_0003498 |
[A kind of short stature in which different regions of the body are shortened to differing extents.] |
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obsolete Loss of heterozygosity, multiple chromosomes
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HP_0003494 |
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GM2-ganglioside accumulation
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HP_0003495 |
[Cellular accumulation of GM2 gangliosides.] |
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obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA
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HP_0003490 |
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High urinary gonadotropin level
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HP_0003492 |
[An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.] |
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Elevated urine pyrophosphate
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HP_0003491 |
[An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.] |
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Gelatinous ascites
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HP_0040414 |
[A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction.] |
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Diffuse breast nodularity
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HP_0040415 |
[Breast tissue with a lumpy or ropelike texture.] |
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Abnormal urinary nitrogen compound level
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HP_0040416 |
[The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.] |
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Decreased urinary biopterin level
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HP_0040417 |
[The amount of biopterin in the urine, normalized for urine concentration, is below the lower limit of normal.] |
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History of vasectomy
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HP_0040410 |
[A medical history of having undergone a vasectomy prior to the current presentation.] |
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Pain in penis
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HP_0040411 |
[An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the penis.] |
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Left ventricular thrombus
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HP_0040412 |
[A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.] |
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Atrophic vaginal mucosa
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HP_0040413 |
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Elevated urine guanidinoacetic acid level
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HP_0040419 |
[The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Decreased urinary neopterin level
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HP_0040420 |
[The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal.] |
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Abnormal urinary hypoxanthine level
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HP_0040425 |
[The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits.] |
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Decreased urinary hypoxanthine level
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HP_0040426 |
[The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal.] |
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Abnormal urinary inosine level
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HP_0040421 |
[The amount of inosine in the urine, normalized for urine concentration, is outside the limits of normal.] |
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Elevated urinary inosine level
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HP_0040422 |
[The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal.] |