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Renal interstitial immunoglobulin deposits
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HP_0032616 |
[Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).] |
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EC 3.1.* (ester hydrolase) inhibitor
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CHEBI_76760 |
[A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*).] |
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Abnormal diffusion weighted cerebral MRI morphology
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HP_0032615 |
[A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.] |
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Polyarticular chondrocalcinosis
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HP_0005017 |
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Renal glomerular amyloid deposition
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HP_0032614 |
[Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.] |
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Renal amyloidosis
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HP_0001917 |
[A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).] |
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Renal interstitial amyloid deposits
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HP_0032613 |
[Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.] |
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Lacrimal duct stenosis
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HP_0007678 |
[Narrowing of a tear duct (lacrimal duct).] |
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Triphalangeal hallux
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HP_0032612 |
[A hallux (big toe) with three phalanges in a single, proximo-distal axis.] |
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EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor
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CHEBI_76764 |
[Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*).] |
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Vitelliform macular lesion
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HP_0007677 |
[Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. Lesions may be singular or multiple, and may be either sharply or poorly demarcated.] |
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Renal tubular epithelial cell hemosiderin
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HP_0032611 |
[Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.] |
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Dysplastic distal radial epiphyses
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HP_0005013 |
[Abnormally developed (dysplastic) distal epiphysis of the radius.] |
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Progressive night blindness
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HP_0007675 |
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Mesomelic arm shortening
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HP_0005011 |
[Shortening of the middle parts of the arm in relation to the upper and terminal segments.] |
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Osteomyelitis leading to amputation due to slow healing fractures
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HP_0005010 |
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Perinephric abscess
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HP_0032619 |
[A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).] |
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formate
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CHEBI_15740 |
[A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects.] |
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Tubulointerstitial mycobacterial infiltration
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HP_0032610 |
[Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.] |
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EC 3.1.1.* (carboxylic ester hydrolase) inhibitor
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CHEBI_76773 |
[An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*).] |