{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5600","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5560","results":[{"identifier":"RECON progeroid syndrome.","acronym":"RECON.","accession":"DI-06683","synonyms":null,"cross_references":"MeSH; D019588.","definition":"An autosomal recessive syndrome characterized by short stature, progeroid facial features, a hypoplastic nose, xeroderma, skin photosensitivity, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs. ","keywords":null},{"identifier":"Recurrent myoglobinuria mitochondrial.","acronym":"RM-MT.","accession":"DI-02775","synonyms":null,"cross_references":"MeSH; D009212.","definition":"Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. ","keywords":null},{"identifier":"Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset.","acronym":"RBMX1A.","accession":"DI-02458","synonyms":"Myopathy, reducing body, X-linked, early-onset, severe.; ","cross_references":"MeSH; D009135.","definition":"A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure. ","keywords":null},{"identifier":"Reducing body myopathy, X-linked 1B, with late childhood or adult onset.","acronym":"RBMX1B.","accession":"DI-02435","synonyms":null,"cross_references":"MeSH; D009135.","definition":"A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. ","keywords":null},{"identifier":"Refsum disease.","acronym":"RD.","accession":"DI-00966","synonyms":"Hereditary motor and sensory neuropathy IV.; Heredopathia atactica polyneuritiformis.; HMSN4.; HMSN IV.; Phytanic acid oxidase deficiency.; Refsum's disease.; ","cross_references":"MeSH; D012035.","definition":"A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. ","keywords":"KW-0209:Deafness.; KW-0682:Retinitis pigmentosa.; KW-0898:Cataract.; KW-0958:Peroxisome biogenesis disorder.; KW-0977:Ichthyosis.; "},{"identifier":"Regulator type Rh-null hemolytic anemia.","acronym":"RHN.","accession":"DI-02251","synonyms":"Rh-deficiency syndrome.; ","cross_references":"MedGen; C1849387.","definition":"Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. ","keywords":null},{"identifier":"Renal cell carcinoma.","acronym":"RCC.","accession":"DI-02254","synonyms":"Adenocarcinoma of kidney.; CCRCC.; Clear cell renal carcinoma.; Common renal cell carcinoma.; Conventional renal cell carcinoma.; CRCC.; Hypernephroma.; Renal cell carcinoma non-papillary.; ","cross_references":"MeSH; D002292.","definition":"Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. ","keywords":null},{"identifier":"Renal cell carcinoma papillary.","acronym":"RCCP.","accession":"DI-01732","synonyms":"Chromophilic renal cell carcinoma.; PRCC.; ","cross_references":"MeSH; D002292.","definition":"A subtype of renal cell carcinoma tending to show a tubulo-papillary architecture formed by numerous, irregular, finger-like projections of connective tissue. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. ","keywords":null},{"identifier":"Renal cell carcinoma Xp11-associated.","acronym":"RCCX1.","accession":"DI-03249","synonyms":null,"cross_references":"MeSH; D002292.","definition":"Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. RCCX1 histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed. ","keywords":null},{"identifier":"Renal cysts and diabetes syndrome.","acronym":"RCAD.","accession":"DI-00967","synonyms":"ADTKD3.; Atypical familial juvenile hyperuricemic nephropathy.; Atypical FJHN.; CAKUT with diabetes.; Congenital anomalies of the kidney and urinary tract with diabetes.; Familial hypoplastic glomerulocystic kidney.; Glomerulocystic kidney disease hypoplastic type.; Maturity-onset diabetes of the young type 5.; MODY5.; Renal-diabetes MODY5 syndrome.; Tubulointerstitial kidney disease, autosomal dominant, 3.; ","cross_references":"MeSH; D003924.","definition":"An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Renal dysplasia, cystic.","acronym":"CYSRD.","accession":"DI-03361","synonyms":null,"cross_references":"MeSH; D021782.","definition":"An anomaly of the kidney characterized by numerous renal cysts and apparent disorder of differentiation of the renal parenchyma. Kidney of affected individuals lack the normal renal bean shape, and the collection drainage system. The cystic, dysplastic kidney contains undifferentiated mesenchyme, cartilaginous tissue, and immature collecting ducts. ","keywords":null},{"identifier":"Renal glucosuria.","acronym":"GLYS.","accession":"DI-02255","synonyms":"Glucosuria, renal.; GLYS1.; ","cross_references":"MeSH; D006030.","definition":"A disorder characterized by persistent isolated glucosuria, normal fasting serum glucose concentration, decreased renal tubular resorption of glucose from the urine, and absence of any other signs of tubular dysfunction. ","keywords":null},{"identifier":"Renal-hepatic-pancreatic dysplasia 1.","acronym":"RHPD1.","accession":"DI-02259","synonyms":"RHPD.; ","cross_references":"MeSH; D000015.","definition":"A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. ","keywords":null},{"identifier":"Renal-hepatic-pancreatic dysplasia 2.","acronym":"RHPD2.","accession":"DI-03891","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. ","keywords":null},{"identifier":"Renal hypodysplasia/aplasia 1.","acronym":"RHDA1.","accession":"DI-02253","synonyms":"Renal adysplasia.; Renal agenesis.; Renal aplasia.; ","cross_references":"MedGen; C1619700.","definition":"A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. ","keywords":null},{"identifier":"Renal hypodysplasia/aplasia 2.","acronym":"RHDA2.","accession":"DI-04110","synonyms":null,"cross_references":"MeSH; D007674.","definition":"A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. ","keywords":null},{"identifier":"Renal hypodysplasia/aplasia 3.","acronym":"RHDA3.","accession":"DI-05149","synonyms":null,"cross_references":"MeSH; D007674.","definition":"A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease. ","keywords":null},{"identifier":"Renal hypodysplasia/aplasia 4.","acronym":"RHDA4.","accession":"DI-06433","synonyms":null,"cross_references":"MeSH; D007674.","definition":"An autosomal recessive, severe congenital anomaly of the kidney and urinary tract characterized by bilateral renal agenesis, and severely reduced or absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin. Some affected individuals have limb contractures and joint dislocations. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. ","keywords":null},{"identifier":"Renal tubular acidosis, distal, 1.","acronym":"DRTA1.","accession":"DI-01207","synonyms":"Autosomal dominant RTA distal type.; Renal tubular acidosis I.; RTA classic type.; RTA gradient type.; ","cross_references":"MeSH; D000141.","definition":"An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ","keywords":null},{"identifier":"Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss.","acronym":"DRTA2.","accession":"DI-01495","synonyms":"Autosomal recessive renal tubular acidosis with progressive nerve deafness.; Distal renal tubular acidosis with deafness.; Renal tubular acidosis with progressive nerve deafness.; RTA with progressive nerve deafness.; ","cross_references":"MeSH; D006319.","definition":"An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ","keywords":"KW-0209:Deafness.; "}]}