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{
"identifier": "Focal cortical dysplasia of Taylor balloon cell type.",
"acronym": "FCDBC.",
"accession": "DI-01618",
"synonyms": null,
"cross_references": "MedGen; C1846389.",
"definition": "Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development. ",
"keywords": null
},
{
"identifier": "Brugada syndrome 3.",
"acronym": "BRGDA3.",
"accession": "DI-00204",
"synonyms": null,
"cross_references": "MeSH; D053840.",
"definition": "A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ",
"keywords": "KW-0992:Brugada syndrome.; "
},
{
"identifier": "Focal segmental glomerulosclerosis 1.",
"acronym": "FSGS1.",
"accession": "DI-01620",
"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 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 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": "Brugada syndrome 2.",
"acronym": "BRGDA2.",
"accession": "DI-00203",
"synonyms": null,
"cross_references": "MeSH; D053840.",
"definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ",
"keywords": "KW-0992:Brugada syndrome.; "
},
{
"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": "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": "Frontometaphyseal dysplasia 2.",
"acronym": "FMD2.",
"accession": "DI-04852",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A form of frontometaphyseal dysplasia, a progressive sclerosing skeletal dysplasia affecting the long bones and skull. Characteristic features include supraorbital hyperostosis, cranial hyperostosis, undermodeling of the small bones, flared metaphyses, and digital anomalies. Extra-skeletal manifestations include hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. FMD2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Frontonasal dysplasia 2.",
"acronym": "FND2.",
"accession": "DI-02709",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. ",
"keywords": null
},
{
"identifier": "Frontonasal dysplasia 3.",
"acronym": "FND3.",
"accession": "DI-02710",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. ",
"keywords": null
}
]
}