{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4820&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4780&ordering=synonyms","results":[{"identifier":"Histidinemia.","acronym":"HISTID.","accession":"DI-01750","synonyms":null,"cross_references":"MedGen; C0220992.","definition":"Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. ","keywords":null},{"identifier":"Hirschsprung disease, cardiac defects, and autonomic dysfunction.","acronym":"HCAD.","accession":"DI-01748","synonyms":null,"cross_references":"MeSH; D006627.","definition":"A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hirschsprung disease 4.","acronym":"HSCR4.","accession":"DI-02982","synonyms":null,"cross_references":"MeSH; D006627.","definition":"A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hirschsprung disease 3.","acronym":"HSCR3.","accession":"DI-01745","synonyms":null,"cross_references":"MeSH; D006627.","definition":"A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Hiatt-Neu-Cooper neurodevelopmental syndrome.","acronym":"HINCONS.","accession":"DI-06098","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hexokinase deficiency.","acronym":"HK deficiency.","accession":"DI-01739","synonyms":null,"cross_references":"MedGen; C3150343.","definition":"Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. ","keywords":null},{"identifier":"Heterotaxy, visceral, 9, autosomal, with male infertility.","acronym":"HTX9.","accession":"DI-05875","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Congenital disorder of glycosylation 1W, autosomal recessive.","acronym":"CDG1WAR.","accession":"DI-04006","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.","acronym":"BCAHH.","accession":"DI-06584","synonyms":null,"cross_references":"MeSH; D003409.","definition":"An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature. ","keywords":"KW-0209:Deafness.; KW-0984:Congenital hypothyroidism.; "},{"identifier":"Branched-chain ketoacid dehydrogenase kinase deficiency.","acronym":"BCKDKD.","accession":"DI-03567","synonyms":null,"cross_references":"MeSH; D020739.","definition":"A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1269:Autism.; "},{"identifier":"Heterotaxy, visceral, 8, autosomal.","acronym":"HTX8.","accession":"DI-04866","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Heterotaxy, visceral, 7, autosomal.","acronym":"HTX7.","accession":"DI-04636","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX7 inheritance is autosomal recessive. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Heterotaxy, visceral, 6, autosomal.","acronym":"HTX6.","accession":"DI-03502","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Heterotaxy, visceral, 2, autosomal.","acronym":"HTX2.","accession":"DI-02413","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Heterotaxy, visceral, 12, autosomal.","acronym":"HTX12.","accession":"DI-06243","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. Early death may occur. HTX12 inheritance is autosomal recessive. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Heterotaxy, visceral, 11, autosomal, with male infertility.","acronym":"HTX11.","accession":"DI-06267","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX11 is an autosomal recessive form associated with male infertility due to reduced flagellar motility. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Heterotaxy, visceral, 10, autosomal, with male infertility.","acronym":"HTX10.","accession":"DI-06266","synonyms":null,"cross_references":"MeSH; D059446.","definition":"A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX10 is an autosomal recessive form associated with male infertility. ","keywords":"KW-1056:Heterotaxy.; "},{"identifier":"Congenital heart defects, multiple types, 4.","acronym":"CHTD4.","accession":"DI-04085","synonyms":null,"cross_references":"MeSH; D006330.","definition":"A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ","keywords":null},{"identifier":"Brain small vessel disease 3.","acronym":"BSVD3.","accession":"DI-05511","synonyms":null,"cross_references":"MeSH; D001927.","definition":"An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. ","keywords":null},{"identifier":"Brugada syndrome 1.","acronym":"BRGDA1.","accession":"DI-00202","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.; "}]}