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Venous malformation
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HP_0012721 |
[A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.] |
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Neoplasm of the nose
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HP_0012720 |
[Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.] |
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Neoplasia of the nasopharynx
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HP_0100630 |
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Inappropriate laughter
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HP_0000748 |
[Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).] |
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Paroxysmal bursts of laughter
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HP_0000749 |
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Reichert's cartilage pre-cartilage condensation
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UBERON_0010354 |
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Low frustration tolerance
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HP_0000744 |
[The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other maladaptive behaviors.] |
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Abnormal volitional state
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HP_0025780 |
[An abnormality of internal states of motivation or drive that compromise, or interfere with, the ability of the person to attend to basic personal, social, or vocational activities.] |
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Delusion
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HP_0000746 |
[A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.] |
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Abnormal judgment
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HP_5200401 |
[Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.] |
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Disorder of thought content
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HP_0025779 |
[Thought content disorders are characterized by abnormal beliefs and convictions (that are to be assessed given the culture and personal background of the affected individual).] |
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proteinogenic amino acid metabolic process
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GO_0170039 |
[The chemical reactions and pathways involving any amino acid that is incorporated into protein naturally by ribosomal translation of mRNA, and that has a specific codon for translation from mRNA to protein.] |
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amino acid metabolic process
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GO_0006520 |
[The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups.] |
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Personality changes
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HP_0000751 |
[An abnormal shift in patterns of thinking, acting, or feeling.] |
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superior tarsal muscle
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UBERON_0010379 |
[The superior tarsal muscle is a smooth muscle adjoining the levator palpebrae superioris muscle that helps to raise the upper eyelid.] |
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smooth muscle of eye
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UBERON_0003386 |
[Any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi.] |
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Hyperactivity
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HP_0000752 |
[Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.] |
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Autism with high cognitive abilities
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HP_0000753 |
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male mammary gland duct
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UBERON_0022360 |
[A mammary gland duct that is part of a male organism. This structure typically regresses.] |
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mammary duct
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UBERON_0001765 |
[Epithelial tube that transports milk[GO].] |