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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=720&ordering=-synonyms",
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"results": [
{
"identifier": "Combined oxidative phosphorylation deficiency 24.",
"acronym": "COXPD24.",
"accession": "DI-04330",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 35.",
"acronym": "COXPD35.",
"accession": "DI-05193",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cerebellar atrophy, developmental delay, and seizures.",
"acronym": "CADEDS.",
"accession": "DI-05076",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2.",
"acronym": "CAMRQ2.",
"accession": "DI-03450",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 49.",
"acronym": "COXPD49.",
"accession": "DI-05914",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3.",
"acronym": "CAMRQ3.",
"accession": "DI-02743",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Alkuraya-Kucinskas syndrome.",
"acronym": "ALKKUCS.",
"accession": "DI-05169",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. ",
"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": "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": "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": "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": "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": "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": "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": "Brugada syndrome 9.",
"acronym": "BRGDA9.",
"accession": "DI-04444",
"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": "Brunet-Wagner neurodevelopmental syndrome.",
"acronym": "BRUWAG.",
"accession": "DI-06308",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1R.",
"acronym": "CMD1R.",
"accession": "DI-00223",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Bryant-Li-Bhoj neurodevelopmental syndrome 1.",
"acronym": "BRYLIB1.",
"accession": "DI-06327",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Bryant-Li-Bhoj neurodevelopmental syndrome 2.",
"acronym": "BRYLIB2.",
"accession": "DI-06328",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal recessive, 108.",
"acronym": "DFNB108.",
"accession": "DI-05055",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}