source stringclasses 7
values | source_url stringlengths 33 155 | persistent_id stringlengths 7 7 | title stringlengths 3 145 | cui stringlengths 8 10 ⌀ | idx int64 0 31.8k | text stringlengths 31 5.37k | vector sequence |
|---|---|---|---|---|---|---|---|
gard | https://rarediseases.info.nih.gov/diseases/10327/24-dienoyl-coa-reductase-deficiency | PL8XPYQ | 2,4-Dienoyl-CoA reductase deficiency | C1857252 | 0 | 2,4-dienoyl-coa reductase deficiency. 2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance. | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. SummaryClinical description.Primary hyperoxaluria type 3 (PH3) is characterized by recurring calcium oxalate stones beginning in childhood or adolescence and, on occasion, nephrocalcinosis or reduced kidney function. In 50%-65% of individuals with PH3 stone formation begins prior to age fi... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. To date systemic oxalosis has not been reported in PH3.Diagnosis/testing.The diagnosis of PH3 is established in a proband with calcium oxalate kidney stone(s) and/or nephrocalcinosis, urine oxalate >0.7 mmol/1.73 m2/24 hours (in those with preserved kidney function), increased concentra... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. heterozygous) pathogenic variants in HOGA1.Management.Treatment of manifestations: Reduction of urine supersaturation of calcium oxalate by maintaining high oral fluid intake at all times and use of an inhibitor of calcium oxalate crystallization such as potassium or sodium citrate; preven... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. stable, annual clinical assessment of: stone-related symptoms (pain), frequency of passage of urinary stones and/or gravel, urinary tract infection; adherence to high fluid intake and medication schedule; annual: assessment of kidney function by serum creatinine, measurement of plasma oxal... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. Intravascular volume contraction, delays in treatment of acute stone episodes, marked dietary oxalate excess, high-dose ascorbic acid, and nephrotoxic agents.Evaluation of relatives at risk: Presymptomatic diagnosis and treatment is warranted in relatives at risk to reduce stone formation ... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the HOGA1 pathogeni... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. :Recurring calcium oxalate stonesOnset of stone disease in childhood or adolescenceNephrocalcinosisReduced kidney function in the presence of calcium stones or nephrocalcinosisFamily history of chronic kidney disease and/or recurring calcium oxalate stones consistent with autosomal recessi... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. individuals who form calcium oxalate stones as a result of PH3.Establishing the DiagnosisAlgorithms for the diagnosis of the primary hyperoxalurias have recently been published (see Figure 1).Figure 1. Algorithm for the diagnostic evaluation of primary hyperoxaluria in an affected individ... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. The diagnosis of PH3 is established in a proband with the clinical findings of calcium oxalate kidney stone(s) and/or (on occasion) nephrocalcinosis and the following biochemical and molecular genetic findings.Biochemical FindingsUrine oxalate. >0.7 mmol/1.73 m2/24 hours in individuals ... | [
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gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK316514/ | Lx126Yq | Primary Hyperoxaluria Type 3 | C3150878 | 1 | primary hyperoxaluria type 3. lower in individuals with advanced chronic kidney disease (CKD). (2) In children the oxalate excretion rate must be corrected for 1.73 m2 body surface area (BSA). (3) Urine oxalate should preferably be measured in a 24-hour urine sample; however, when timed urine collections cannot be obta... | [
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