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Abnormal morphology of the shoulder musculature
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HP_0410169 |
[Any abnormality of the shoulder muscles.] |
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Nonprogressive
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HP_0003680 |
[Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.] |
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obsolete Large beaked nose
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HP_0003683 |
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Defective interstrand cross-link repair
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HP_0410166 |
[A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.] |
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Variable progression rate
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HP_0003682 |
[Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another.] |
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Warfarin-induced skin necrosis
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HP_0001038 |
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Atheroeruptive xanthoma
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HP_0001039 |
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Facial flushing after alcohol intake
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HP_0001033 |
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Flushing
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HP_0031284 |
[Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.] |
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Absent epiphysis of the distal phalanx of the 5th finger
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HP_0003696 |
[Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.] |
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Increased level of N-acetylneuraminic acid in fibroblasts
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HP_0410157 |
[An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.] |
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Increased level of N-acetylneuraminic acid in urine
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HP_0410156 |
[An increase in the level of N-acetylneuraminic acid in the urine.] |
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Difficulty standing
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HP_0003698 |
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Scapuloperoneal amyotrophy
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HP_0003697 |
[Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.] |
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obsolete Increased urine O-phosphoethanolamine level
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HP_0410158 |
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Increased level of methylsuccinic acid in urine
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HP_0410153 |
[The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Scapular winging
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HP_0003691 |
[Abnormal protrusion of the scapula away from the surface of the back.] |
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Eosinophilic microabscess formation in the esophagus
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HP_0410152 |
[The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.] |
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Esophagitis
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HP_0100633 |
[Inflammation of the esophagus.] |
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Late-onset proximal muscle weakness
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HP_0003694 |
[Lack of strength of the proximal musculature occurring late in the clinical course.] |