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Aplasia/Hypoplasia of the cerebellar vermis
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HP_0006817 |
[Absence or underdevelopment of the vermis of cerebellum.] |
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Multicentric ossification of proximal humeral epiphyses
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HP_0004997 |
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Irregular ossification of the humeral epiphyses
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HP_0003897 |
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Lack of peer relationships
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HP_0002332 |
[The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.] |
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Abnormal peer relationships
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HP_5200016 |
[The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.] |
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Recurrent paroxysmal headache
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HP_0002331 |
[Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.] |
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Abnormal cerebellar vermis morphology
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HP_0002334 |
[An anomaly of the vermis of cerebellum.] |
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Abnormal cerebellum morphology
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HP_0001317 |
[Any structural abnormality of the cerebellum.] |
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Slender long bones with narrow diaphyses
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HP_0004993 |
[Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.] |
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Abnormal diaphysis morphology
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HP_0000940 |
[An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.] |
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Slender long bone
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HP_0003100 |
[Reduced diameter of a long bone.] |
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Motor deterioration
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HP_0002333 |
[Loss of previously present motor (i.e., movement) abilities.] |
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Mental deterioration
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HP_0001268 |
[Loss of previously present mental abilities, generally in adults.] |
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Rhizomelic arm shortening
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HP_0004991 |
[Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).] |
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Rhizomelia
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HP_0008905 |
[Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).] |
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Sleep attack
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HP_0002330 |
[A sleep attack is a sudden, irresistable episode of sleep that occurs during waking hours.] |
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Excessive sleep
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HP_0025288 |
[A clinical phenomenon characterized by sleeping longer than what is typical or necessary for a person's age and context, or by recurrent episodes of sleep that intrude upon the waking hours. Excessive sleep is identified through self-reports or observations and may involve prolonged nighttime sleep, frequent daytime naps, or episodes of unintentional sleep.] |
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Epiphyseal streaking
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HP_0004990 |
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Abnormal epiphysis morphology
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HP_0005930 |
[An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.] |
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N-isobutyrylglycine
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CHEBI_70979 |
[An N-acylglycine in which the acyl group is specified as isobutryl.] |