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"count": 6723,
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"results": [
{
"identifier": "Nephrotic syndrome 18.",
"acronym": "NPHS18.",
"accession": "DI-05379",
"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. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 19.",
"acronym": "NPHS19.",
"accession": "DI-05380",
"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. NPHS19 is an autosomal recessive, steroid-resistant form with onset in the first or second decade of life, resulting in chronic kidney disease. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 2.",
"acronym": "NPHS2.",
"accession": "DI-01260",
"synonyms": "Autosomal recessive steroid-resistant nephrotic syndrome.; SRN.; SRN1.; ",
"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. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 20.",
"acronym": "NPHS20.",
"accession": "DI-05603",
"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. NPHS20 is an X-linked, steroid-resistant form with onset at birth or in the first years of life in affected males. Death in childhood may occur in absence of renal transplantation. Carrier females may be unaffected or have a mild disease with proteinuria. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 21.",
"acronym": "NPHS21.",
"accession": "DI-05664",
"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. NPHS21 is an autosomal recessive, rapidly progressive, steroid-resistant form characterized by onset of kidney dysfunction in the first year of life. Some patients may have variable extra-renal manifestations. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 22.",
"acronym": "NPHS22.",
"accession": "DI-06009",
"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. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 23.",
"acronym": "NPHS23.",
"accession": "DI-06033",
"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. NPHS23 is an autosomal recessive form characterized by onset of proteinuria in the first or second decade of life, and variable outcome. Some patients have normal renal function after many years, whereas others may progress to chronic kidney disease. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 24.",
"acronym": "NPHS24.",
"accession": "DI-06075",
"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. NPHS24 is an autosomal recessive, slowly progressive form. Most patients eventually develop end-stage renal disease. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 26.",
"acronym": "NPHS26.",
"accession": "DI-06510",
"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. NPHS26 is an autosomal recessive form characterized by onset of proteinuria in the first months or years of life. Some patients respond to steroids, whereas others show steroid resistance and progression to end-stage renal disease. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 3.",
"acronym": "NPHS3.",
"accession": "DI-02041",
"synonyms": "Early-onset nephrotic syndrome type 3.; ",
"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. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 4.",
"acronym": "NPHS4.",
"accession": "DI-01838",
"synonyms": "Isolated diffuse mesangial sclerosis.; ",
"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. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 5, with or without ocular abnormalities.",
"acronym": "NPHS5.",
"accession": "DI-03237",
"synonyms": "Mesangial sclerosis, diffuse renal, with ocular abnormalities.; ",
"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. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 6.",
"acronym": "NPHS6.",
"accession": "DI-03238",
"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 7.",
"acronym": "NPHS7.",
"accession": "DI-03666",
"synonyms": "Nephrotic syndrome type 7 with membranoproliferative glomerulonephritis.; ",
"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. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 8.",
"acronym": "NPHS8.",
"accession": "DI-03751",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show diffuse mesangial sclerosis, with small glomeruli, hypercellularity, increased extracellular matrix, and contracted/collapsed glomerular tufts surrounded by immature or abnormal podocytes. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 9.",
"acronym": "NPHS9.",
"accession": "DI-03980",
"synonyms": null,
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis. ",
"keywords": null
},
{
"identifier": "NESCAV syndrome.",
"acronym": "NESCAVS.",
"accession": "DI-03252",
"synonyms": "MRD9.; Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant neurodegenerative disorder with variable manifestations. Main features are delayed psychomotor development, progressive spasticity, intellectual disability, speech delay, and learning disabilities. Some patients never achieve ambulation. Additional variable features are cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Disease onset is in infancy or early childhood. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Nestor-Guillermo progeria syndrome.",
"acronym": "NGPS.",
"accession": "DI-03175",
"synonyms": "Progeria syndrome childhood-onset with osteolysis.; PSCOO.; ",
"cross_references": "MeSH; D011371.",
"definition": "An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies. ",
"keywords": "KW-1285:Osteoporosis.; "
},
{
"identifier": "Netherton syndrome.",
"acronym": "NETH.",
"accession": "DI-00809",
"synonyms": "Comel-Netherton syndrome.; Erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE.; Netherton disease.; NS.; NTS.; ",
"cross_references": "MeSH; D056770.",
"definition": "An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration. ",
"keywords": "KW-0977:Ichthyosis.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Neu-Laxova syndrome 1.",
"acronym": "NLS1.",
"accession": "DI-04141",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies including lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears. ",
"keywords": null
}
]
}