{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2840&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2800&ordering=-synonyms","results":[{"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":"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":"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":"Immunodeficiency 62.","acronym":"IMD62.","accession":"DI-05587","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells. ","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":"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":"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":"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":"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":"Multiple endocrine neoplasia 4.","acronym":"MEN4.","accession":"DI-02004","synonyms":null,"cross_references":"MedGen; C1970712.","definition":"Multiple endocrine neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic overlap of both MEN1 and MEN2. ","keywords":null},{"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":"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":"Mitochondrial phosphoenolpyruvate carboxykinase deficiency.","acronym":"M-PEPCKD.","accession":"DI-01986","synonyms":null,"cross_references":"MedGen; C1849821.","definition":"Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. ","keywords":null},{"identifier":"Immunodeficiency 44.","acronym":"IMD44.","accession":"DI-04585","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. ","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":"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":"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, 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":"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":"Spastic paraplegia 64, autosomal recessive.","acronym":"SPG64.","accession":"DI-04056","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. ","keywords":"KW-0890:Hereditary spastic paraplegia.; "}]}