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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2420&ordering=-synonyms",
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"results": [
{
"identifier": "Anencephaly 2.",
"acronym": "ANPH2.",
"accession": "DI-06156",
"synonyms": null,
"cross_references": "MeSH; D000757.",
"definition": "A form of anencephaly, an extreme neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH2 features may also include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Fleck retina, familial benign.",
"acronym": "FRFB.",
"accession": "DI-03359",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. ",
"keywords": null
},
{
"identifier": "Fliedner-Zweier syndrome.",
"acronym": "FZS.",
"accession": "DI-06763",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by variable features including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Floating-Harbor syndrome.",
"acronym": "FLHS.",
"accession": "DI-03389",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. ",
"keywords": null
},
{
"identifier": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development.",
"acronym": "COB1.",
"accession": "DI-04066",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest intellectual disability of varying degree and/or sensorineural, mid-frequency hearing loss. ",
"keywords": null
},
{
"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": "Bethlem myopathy 1B.",
"acronym": "BTHLM1B.",
"accession": "DI-06833",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Hypopigmentation, organomegaly, and delayed myelination and development.",
"acronym": "HOD.",
"accession": "DI-05637",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. ",
"keywords": null
},
{
"identifier": "Aneurysm, intracranial berry, 12.",
"acronym": "ANIB12.",
"accession": "DI-05735",
"synonyms": null,
"cross_references": "MeSH; D002532.",
"definition": "A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage. ",
"keywords": null
},
{
"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": "Bethlem myopathy 1C.",
"acronym": "BTHLM1C.",
"accession": "DI-06834",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"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": "Combined oxidative phosphorylation deficiency 14.",
"acronym": "COXPD14.",
"accession": "DI-03630",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Parkinsonism-dystonia 3, childhood-onset.",
"acronym": "PKDYS3.",
"accession": "DI-06334",
"synonyms": null,
"cross_references": "MeSH; D020734.",
"definition": "An autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
}
]
}