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Absent phalangeal crease
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HP_0006109 |
[Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).] |
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Increased level of myristic acid in serum
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HP_0410154 |
[An increase in the level of myristic acid in the serum.] |
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Eosinophilic infiltration of the esophagus
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HP_0410151 |
[Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.] |
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Abnormal capillary morphology
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HP_0025016 |
[A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.] |
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Absent dorsal skin creases over affected joints
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HP_0001049 |
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Drug-induced anaphylaxis
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HP_0410149 |
[A form of anaphylaxis that is triggered by intake of drugs or medications.] |
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Decerebrate rigidity
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HP_0025013 |
[A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.] |
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Subcutaneous spheroids
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HP_0025014 |
[Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.] |
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Arterial rupture
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HP_0025019 |
[Sudden breakage of an artery leading to leakage of blood from the circulation.] |
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Elevated circulating biotinidase concentration
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HP_0410146 |
[Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.] |
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Abnormal circulating biotinidase concentration
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HP_0410144 |
[An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.] |
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Decreased circulating biotinidase concentration
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HP_0410145 |
[Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.] |
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Capillary fragility
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HP_0025017 |
[Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).] |
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Intermittent jaundice
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HP_0001046 |
[Jaundice that is sometimes present, sometimes not.] |
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Idiopathic anaphylaxis
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HP_0410148 |
[A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.] |
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Eosinophilic infiltration in the stomach mucosa
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HP_0410147 |
[Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.] |
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Multiple pterygia
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HP_0001040 |
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aminopurine
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CHEBI_22527 |
[Any purine having at least one amino substituent.] |
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Facial erythema
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HP_0001041 |
[Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.] |
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High axial triradius
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HP_0001042 |
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