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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4600",
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"results": [
{
"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 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 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 19.",
"acronym": "NPHP19.",
"accession": "DI-04336",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 2.",
"acronym": "NPHP2.",
"accession": "DI-00804",
"synonyms": "Infantile nephronophthisis.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 20.",
"acronym": "NPHP20.",
"accession": "DI-04920",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of nephronophthisis, an autosomal recessive 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. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly. ",
"keywords": "KW-0983:Nephronophthisis.; "
},
{
"identifier": "Nephronophthisis 3.",
"acronym": "NPHP3.",
"accession": "DI-00805",
"synonyms": "Adolescent nephronophthisis.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 4.",
"acronym": "NPHP4.",
"accession": "DI-00806",
"synonyms": "Juvenile nephronophthisis 4.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are 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 7.",
"acronym": "NPHP7.",
"accession": "DI-00807",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. 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 9.",
"acronym": "NPHP9.",
"accession": "DI-03050",
"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-like nephropathy 1.",
"acronym": "NPHPL1.",
"accession": "DI-02901",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, intellectual disability and hypertrophic dilated cardiomyopathy. ",
"keywords": "KW-0983:Nephronophthisis.; "
},
{
"identifier": "Nephronophthisis-like nephropathy 2.",
"acronym": "NPHPL2.",
"accession": "DI-06186",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. NPHPL2 is an autosomal recessive form characterized by onset of progressive renal insufficiency in the first decades of life. ",
"keywords": "KW-0983:Nephronophthisis.; "
},
{
"identifier": "Nephrotic syndrome 1.",
"acronym": "NPHS1.",
"accession": "DI-01414",
"synonyms": "CNF.; Congenital nephrotic syndrome.; Congenital nephrotic syndrome of the Finnish type.; Finnish congenital nephrosis.; ",
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 10.",
"acronym": "NPHS10.",
"accession": "DI-04133",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by focal segmental glomerulosclerosis, progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. NPHS10 is a steroid-sensitive form characterized by onset in childhood and remission without end-stage kidney disease. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 11.",
"acronym": "NPHS11.",
"accession": "DI-04623",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS11 is an autosomal recessive, steroid-resistant and progressive form with onset in the first decade of life. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 12.",
"acronym": "NPHS12.",
"accession": "DI-04699",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS12 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 13.",
"acronym": "NPHS13.",
"accession": "DI-04700",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 15.",
"acronym": "NPHS15.",
"accession": "DI-05067",
"synonyms": "Nephrotic syndrome, type 15.; ",
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 16.",
"acronym": "NPHS16.",
"accession": "DI-05129",
"synonyms": "Nephrotic syndrome, type 16.; ",
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS16 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 17.",
"acronym": "NPHS17.",
"accession": "DI-05378",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS17 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. ",
"keywords": null
}
]
}