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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4760&ordering=synonyms",
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"results": [
{
"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": "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": "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": "Hyperinsulinemic hypoglycemia, familial, 5.",
"acronym": "HHF5.",
"accession": "DI-01583",
"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. HHF5 clinical features include loss of consciousness due to hypoglycemia and hypoglycemic seizures. HHF5 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 4.",
"acronym": "HHF4.",
"accession": "DI-01582",
"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. HHF4 clinical features include hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 3.",
"acronym": "HHF3.",
"accession": "DI-01581",
"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. HHF3 clinical features include loss of consciousness due to hypoglycemia, hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hyperimmunoglobulinemia D and periodic fever syndrome.",
"acronym": "HIDS.",
"accession": "DI-01768",
"synonyms": null,
"cross_references": "MedGen; C0398691.",
"definition": "Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. ",
"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": "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.",
"acronym": "CHEDDA.",
"accession": "DI-05610",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperferritinemia.",
"acronym": "HRFT.",
"accession": "DI-06851",
"synonyms": null,
"cross_references": "MeSH; D000085583.",
"definition": "An autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms. ",
"keywords": null
},
{
"identifier": "Hyperemesis gravidarum.",
"acronym": "HG.",
"accession": "DI-06832",
"synonyms": null,
"cross_references": "MeSH; D006939.",
"definition": "An autosomal dominant condition characterized by severe nausea and vomiting in pregnancy. It occurs in up to 2% of pregnancies and leads to significant weight loss, dehydration, electrolyte imbalance, and ketonuria. It is associated with both maternal and fetal morbidity. ",
"keywords": null
},
{
"identifier": "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.",
"acronym": "CHILD.",
"accession": "DI-00357",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Hyperekplexia 4.",
"acronym": "HKPX4.",
"accession": "DI-05272",
"synonyms": null,
"cross_references": "MeSH; D000071017.",
"definition": "An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life. ",
"keywords": null
},
{
"identifier": "Hyperekplexia 3.",
"acronym": "HKPX3.",
"accession": "DI-03456",
"synonyms": null,
"cross_references": "MeSH; D000071017.",
"definition": "A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 9.",
"acronym": "CHTD9.",
"accession": "DI-06632",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal recessive disorder characterized by congenital developmental abnormalities involving structures of the heart. CHTD9 features include common arterial trunk, tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 8, with or without heterotaxy.",
"acronym": "CHTD8.",
"accession": "DI-06292",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common CHTD8 features include double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies. Vascular anomalies include dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "HyperCKmia.",
"acronym": "HYPCK.",
"accession": "DI-01766",
"synonyms": null,
"cross_references": "MedGen; C0241005.",
"definition": "Characterized by persistent elevated levels of serum creatine kinase without muscle weakness. ",
"keywords": null
},
{
"identifier": "Hyperchlorhidrosis, isolated.",
"acronym": "HYCHL.",
"accession": "DI-03013",
"synonyms": null,
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 7.",
"acronym": "CHTD7.",
"accession": "DI-05764",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. ",
"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.; "
}
]
}