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Impaired renal tubular reabsorption of chloride
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HP_0005579 |
[Any impairment of reabsorption of chloride by the kidney.] |
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Difficulty adjusting from light to dark
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HP_0030513 |
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Tubulointerstitial fibrosis
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HP_0005576 |
[A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.] |
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Renal fibrosis
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HP_0030760 |
[Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.] |
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Combined hamartoma of the retinal pigment epithelium and retina
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HP_0030510 |
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Bradyopsia
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HP_0030511 |
[Difficulty in seeing moving objects.] |
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Non-acidotic proximal tubulopathy
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HP_0005574 |
[A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.] |
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Hemolytic-uremic syndrome
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HP_0005575 |
[A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.] |
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Decreased renal tubular phosphate excretion
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HP_0005572 |
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Increased renal tubular phosphate reabsorption
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HP_0005571 |
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Congruous homonymous hemianopia
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HP_0030518 |
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Congruous heteronymous hemianopia
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HP_0030519 |
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Refractory anemia
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HP_0005505 |
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Chronic myelogenous leukemia
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HP_0005506 |
[A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.] |
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somatic hypermutation of immunoglobulin genes
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GO_0016446 |
[Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins.] |
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Increased red cell osmotic fragility
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HP_0005502 |
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DNA recombination
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GO_0006310 |
[Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.] |
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Hemoglobin Barts
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HP_0005507 |
[Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.] |
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Monoclonal immunoglobulin M proteinemia
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HP_0005508 |
[Presence of a monoclonal immunoglobulin M protein in the serum.] |
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Lymphoproliferative disorder
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HP_0005523 |
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