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Total hyposmia
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HP_0010634 |
[Reduced ability to detect any qualitative olfactory sensation.] |
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Elevated CSF DOPA concentration
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HP_0034605 |
[Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.] |
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Elevated alkaline phosphatase of bone origin
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HP_0010639 |
[An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.] |
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Elevated tissue non-specific alkaline phosphatase
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HP_0010679 |
[An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.] |
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Decreased circulating 17-hydroxyprogesterone concentration
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HP_0034607 |
[Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.] |
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Decreased circulating progesterone
|
HP_0008233 |
[An reduced concentration of progesterone in the blood.] |
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Decreased circulating transcobalamin II concentration
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HP_0034608 |
[Concentration of transcobalamin II in the blood circulation below the lower limit of normal.] |
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Conjunctival amyloidosis
|
HP_0010637 |
[A form of amyloidosis that affects the conjunctiva.] |
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Polychromasia
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HP_0034609 |
[Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.] |
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Abnormal reticulocyte morphology
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HP_0004312 |
[A reticulocyte abnormality.] |
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Elevated alkaline phosphatase of hepatic origin
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HP_0010638 |
[An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.] |
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Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
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HP_0009640 |
[Fusion of the proximal phalanx of the thumb with the 1st metacarpal.] |
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Synostosis involving the 1st metacarpal
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HP_0009703 |
[Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.] |
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Aplasia/Hypoplasia of the distal phalanx of the thumb
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HP_0009641 |
|
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Broad distal phalanx of the thumb
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HP_0009642 |
[Increased width of the distal phalanx of thumb.] |
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Abnormal lower limb epiphysis morphology
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HP_0006500 |
[An anomaly of one or more epiphyses of one or both legs.] |
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Total anosmia
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HP_0010632 |
[Inability to detect any qualitative olfactory sensation.] |
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Bullet-shaped distal phalanx of the thumb
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HP_0009643 |
[Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.] |
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Elevated circulating thrombopoietin concentration
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HP_0034600 |
[Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.] |
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Curved distal phalanx of the thumb
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HP_0009644 |
[A deviation from the normal straight shape of the distal phalanx of the thumb.] |