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"count": 6723,
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{
"identifier": "Focal segmental glomerulosclerosis 2.",
"acronym": "FSGS2.",
"accession": "DI-01621",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 3.",
"acronym": "FSGS3.",
"accession": "DI-01622",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 4.",
"acronym": "FSGS4.",
"accession": "DI-02864",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 5.",
"acronym": "FSGS5.",
"accession": "DI-02556",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 6.",
"acronym": "FSGS6.",
"accession": "DI-03188",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 7.",
"acronym": "FSGS7.",
"accession": "DI-04217",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 8.",
"acronym": "FSGS8.",
"accession": "DI-04233",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 9.",
"acronym": "FSGS9.",
"accession": "DI-04326",
"synonyms": "Glomerulosclerosis, focal segmental, 9.; ",
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis and neurodevelopmental syndrome.",
"acronym": "FSGSNEDS.",
"accession": "DI-06177",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay associated with variable features of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early- onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and non-specific dysmorphic facial features, are commonly observed. ",
"keywords": null
},
{
"identifier": "Fontaine progeroid syndrome.",
"acronym": "FPS.",
"accession": "DI-05183",
"synonyms": "Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence.; GCMS.; Gorlin-Chaudhry-Moss syndrome.; Progeroid syndrome, congenital, Petty type.; ",
"cross_references": "MeSH; D019588.",
"definition": "An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients. ",
"keywords": null
},
{
"identifier": "Foveal hypoplasia 1.",
"acronym": "FVH1.",
"accession": "DI-01624",
"synonyms": "Foveal hypoplasia and presenile cataract syndrome.; Foveal hypoplasia with or without anterior segment anomalies and/or cataract.; ",
"cross_references": "MeSH; D015785.",
"definition": "An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients. ",
"keywords": null
},
{
"identifier": "Foveal hypoplasia 2.",
"acronym": "FVH2.",
"accession": "DI-04048",
"synonyms": "FHONDA.; Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis without albinism.; Foveal hypoplasia and anterior segment dysgenesis.; Foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis.; ",
"cross_references": "MeSH; D015785.",
"definition": "An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients. ",
"keywords": null
},
{
"identifier": "Fragile X syndrome.",
"acronym": "FXS.",
"accession": "DI-01625",
"synonyms": "Marker X syndrome.; Martin-Bell syndrome.; ",
"cross_references": "MeSH; D005600.",
"definition": "An X-linked dominant disease characterized by moderate to severe intellectual disability, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Fragile X tremor/ataxia syndrome.",
"acronym": "FXTAS.",
"accession": "DI-01626",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked neurodegenerative disorder characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive decline. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Frank-Ter Haar syndrome.",
"acronym": "FTHS.",
"accession": "DI-02812",
"synonyms": "Autosomal recessive Melnick-Needles syndrome.; Borrone dermatocardioskeletal syndrome.; Ter Haar syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. ",
"keywords": null
},
{
"identifier": "Fraser syndrome 1.",
"acronym": "FRASRS1.",
"accession": "DI-01627",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Fraser syndrome 2.",
"acronym": "FRASRS2.",
"accession": "DI-05098",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Fraser syndrome 3.",
"acronym": "FRASRS3.",
"accession": "DI-05099",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Frasier syndrome.",
"acronym": "FS.",
"accession": "DI-01628",
"synonyms": null,
"cross_references": "MedGen; C0950122.",
"definition": "Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Friedreich ataxia.",
"acronym": "FRDA.",
"accession": "DI-01630",
"synonyms": "FA.; FRDA1.; Friedreich ataxia 1.; Friedreich ataxia with retained reflexes.; ",
"cross_references": "MeSH; D005621.",
"definition": "Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. ",
"keywords": null
}
]
}