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Uric acid crystalluria
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HP_0032964 |
[The presence of uric acid crystals in the urine.] |
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Abnormal facial expression
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HP_0005346 |
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Agenesis of the anterior commissure
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HP_0030302 |
[Absence of the anterior commissure.] |
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Complex renal cyst
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HP_0032963 |
[A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.] |
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negative regulation of lipid metabolic process
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GO_0045833 |
[Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids.] |
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Hypoplasia of the bladder
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HP_0005343 |
[Underdevelopment of the urinary bladder.] |
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positive regulation of nucleobase-containing compound metabolic process
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GO_0045935 |
[Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.] |
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Autonomic bladder dysfunction
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HP_0005341 |
[Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.] |
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Spastic/hyperactive bladder
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HP_0005340 |
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negative regulation of nucleobase-containing compound metabolic process
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GO_0045934 |
[Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.] |
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Flared distal fibular metaphysis
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HP_0030309 |
[The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.] |
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Tubular microcystic change
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HP_0032962 |
[Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.] |
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10 pairs of ribs
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HP_0030300 |
[Presence of only 10 (instead of the usual 12) pairs of ribs.] |
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Magnesium ammonium phosphate crystalluria
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HP_0032961 |
[Magnesium ammonium phosphate crystals in the urine.] |
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Intratubular calcium phosphate casts
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HP_0032960 |
[Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.] |
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Intratubular calcium oxalate casts
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HP_0032959 |
[Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.] |
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spiny
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PATO_0001365 |
[A surface feature shape quality inhering in a bearer by virtue of the bearer's having spines, thorns or similar thin projections on its surface.] |
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surface feature shape
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PATO_0001925 |
[A surface shape quality inhering in a bearer by virtue of the bearer's shape of features present on its surface or outer shell.] |
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Urinary oval fat bodies
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HP_0032958 |
[The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.] |
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Dysmorphic hematuria
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HP_0032957 |
[The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.] |