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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2860&ordering=-synonyms",
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"results": [
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 8.",
"acronym": "HHF8.",
"accession": "DI-06591",
"synonyms": null,
"cross_references": "MeSH; D007003.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF8 is an autosomal recessive form characterized by episodes of symptomatic hypoglycemia provoked by protein feeding, and persistent mild hyperammonemia. Affected children tend to have recurrent generalized seizures. ",
"keywords": null
},
{
"identifier": "Li-Ghorbani-Weisz-Hubshman syndrome.",
"acronym": "LIGOWS.",
"accession": "DI-05894",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, mild to moderate intellectual disability, speech and language impairment, and variable facial dysmorphism. Some patients have seizures and autistic features. Brain imaging abnormalities are observed in some patients and include decreased white matter volume, enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Brugada syndrome 4.",
"acronym": "BRGDA4.",
"accession": "DI-00205",
"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": "Immunodeficiency 66.",
"acronym": "IMD66.",
"accession": "DI-05815",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunologic disorder characterized by recurrent viral infections from infancy, associated with impaired neutrophil migration due to defects in cytoskeletal actin dynamics. ",
"keywords": null
},
{
"identifier": "Moyamoya disease 5.",
"acronym": "MYMY5.",
"accession": "DI-03141",
"synonyms": null,
"cross_references": "MeSH; D009072.",
"definition": "A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. ",
"keywords": null
},
{
"identifier": "Nemaline myopathy 6.",
"acronym": "NEM6.",
"accession": "DI-02960",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Brugada syndrome 5.",
"acronym": "BRGDA5.",
"accession": "DI-02502",
"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": "Myopathy, epilepsy, and progressive cerebral atrophy.",
"acronym": "MEPCA.",
"accession": "DI-05924",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe, early lethal neurodegeneration, myasthenic and myopathic features, progressive cerebral atrophy with myelination defects, and intractable epilepsy. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities.",
"acronym": "ARCME.",
"accession": "DI-06765",
"synonyms": null,
"cross_references": "MeSH; D009202.",
"definition": "An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Hypermanganesemia with dystonia 2.",
"acronym": "HMNDYT2.",
"accession": "DI-04753",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2.",
"acronym": "HUMOP2.",
"accession": "DI-06541",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A disorder apparent in infancy and characterized by euthyroid hypermetabolism, failure to thrive despite excessive caloric intake, intermittent hyperthermia, and developmental delay. ",
"keywords": null
},
{
"identifier": "Brugada syndrome 6.",
"acronym": "BRGDA6.",
"accession": "DI-02501",
"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": "Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.",
"acronym": "HMAHCHD.",
"accession": "DI-01774",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. ",
"keywords": null
},
{
"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": "Brugada syndrome 7.",
"acronym": "BRGDA7.",
"accession": "DI-02503",
"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": "Hyperostosis cranialis interna.",
"acronym": "HCIN.",
"accession": "DI-05257",
"synonyms": null,
"cross_references": "MeSH; D015576.",
"definition": "An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life. ",
"keywords": null
},
{
"identifier": "Allergic rhinitis.",
"acronym": "ALRH.",
"accession": "DI-02868",
"synonyms": null,
"cross_references": "MeSH; D012221.",
"definition": "A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 97 with autoinflammation.",
"acronym": "IMD97.",
"accession": "DI-06382",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis. ",
"keywords": null
},
{
"identifier": "Brugada syndrome 8.",
"acronym": "BRGDA8.",
"accession": "DI-02557",
"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": "Spastic paraplegia 84, autosomal recessive.",
"acronym": "SPG84.",
"accession": "DI-06273",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG84 is characterized by onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
}
]
}