Human Disease List
GET /api/human_diseases/?format=api&offset=2140&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2160&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2120&ordering=-identifier", "results": [ { "identifier": "Nephronophthisis 18.", "acronym": "NPHP18.", "accession": "DI-04134", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephronophthisis 16.", "acronym": "NPHP16.", "accession": "DI-03843", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephronophthisis 15.", "acronym": "NPHP15.", "accession": "DI-03538", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end- stage renal failure. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephronophthisis 14.", "acronym": "NPHP14.", "accession": "DI-03547", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephronophthisis 13.", "acronym": "NPHP13.", "accession": "DI-03326", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephronophthisis 12.", "acronym": "NPHP12.", "accession": "DI-03051", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephronophthisis 11.", "acronym": "NPHP11.", "accession": "DI-02898", "synonyms": null, "cross_references": "MeSH; D052177.", "definition": "A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo- interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephronophthisis 1.", "acronym": "NPHP1.", "accession": "DI-00803", "synonyms": "Familial juvenile nephronophthisis 1.; ", "cross_references": "MeSH; D052177.", "definition": "An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. ", "keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; " }, { "identifier": "Nephrolithiasis, X-linked recessive, with renal failure.", "acronym": "XRN.", "accession": "DI-00801", "synonyms": "Nephrolithiasis 1.; NPHL1.; ", "cross_references": "MeSH; D053040.", "definition": "An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XRN patients present with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. ", "keywords": null }, { "identifier": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2.", "acronym": "NPHLOP2.", "accession": "DI-01798", "synonyms": null, "cross_references": "MeSH; D053040.", "definition": "A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. ", "keywords": null }, { "identifier": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1.", "acronym": "NPHLOP1.", "accession": "DI-01797", "synonyms": null, "cross_references": "MeSH; D053040.", "definition": "A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. ", "keywords": null }, { "identifier": "Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis.", "acronym": "CAON2.", "accession": "DI-06686", "synonyms": null, "cross_references": "MeSH; D053040.", "definition": "A form of nephrolithiasis, a condition in which urinary supersaturation leads to calcium oxalate stone formation in the urinary system. CAON2 is an autosomal dominant form often resultings in nephrocalcinosis. ", "keywords": null }, { "identifier": "Nephrolithiasis, calcium oxalate, 1.", "acronym": "CAON1.", "accession": "DI-04782", "synonyms": "Calcium oxalate urolithiasis.; Kidney stones.; Urolithiasis, calcium oxalate.; ", "cross_references": "MeSH; D053040.", "definition": "A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON1 is characterized by calcium oxalate kidney stones. ", "keywords": null }, { "identifier": "Nephrogenic syndrome of inappropriate antidiuresis.", "acronym": "NSIAD.", "accession": "DI-02040", "synonyms": null, "cross_references": "MedGen; C1845202.", "definition": "Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. ", "keywords": null }, { "identifier": "Nemaline myopathy 9.", "acronym": "NEM9.", "accession": "DI-04073", "synonyms": null, "cross_references": "MeSH; D017696.", "definition": "An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. ", "keywords": "KW-1057:Nemaline myopathy.; " }, { "identifier": "Nemaline myopathy 8.", "acronym": "NEM8.", "accession": "DI-03802", "synonyms": "Nemaline myopathy 8, autosomal recessive.; ", "cross_references": "MeSH; D017696.", "definition": "A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. ", "keywords": "KW-1057:Nemaline myopathy.; " }, { "identifier": "Nemaline myopathy 7.", "acronym": "NEM7.", "accession": "DI-02037", "synonyms": "CFL2-related nemaline myopathy.; Nemaline myopathy 7, autosomal recessive.; ", "cross_references": "MeSH; D017696.", "definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. ", "keywords": "KW-1057:Nemaline myopathy.; " }, { "identifier": "Nemaline myopathy 6.", "acronym": "NEM6.", "accession": "DI-02960", "synonyms": null, "cross_references": "MeSH; D017696.", "definition": "A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. ", "keywords": "KW-1057:Nemaline myopathy.; " }, { "identifier": "Nemaline myopathy 5C, autosomal dominant.", "acronym": "NEM5C.", "accession": "DI-06693", "synonyms": null, "cross_references": "MeSH; D017696.", "definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5C is a relatively mild skeletal muscle disorder appearing in the first or second decades. Main clinical features include difficulty walking on the heels, waddling gait, proximal muscle weakness affecting the upper and lower limbs, and Gowers sign. Patients remain ambulatory into late adulthood. ", "keywords": "KW-1057:Nemaline myopathy.; " }, { "identifier": "Nemaline myopathy 5B, autosomal recessive, childhood-onset.", "acronym": "NEM5B.", "accession": "DI-06692", "synonyms": null, "cross_references": "MeSH; D017696.", "definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5B is characterized by proximal muscle weakness of the lower and upper limbs, gait abnormalities, and delayed motor development in some affected individuals. Most patients remain ambulatory even into late adulthood and develop restrictive respiratory insufficiency with decreased forced vital capacity. ", "keywords": "KW-1057:Nemaline myopathy.; " } ] }