{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=140&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=100&ordering=-identifier","results":[{"identifier":"Vesicoureteral reflux 2.","acronym":"VUR2.","accession":"DI-02412","synonyms":null,"cross_references":"MeSH; D014718.","definition":"A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. ","keywords":null},{"identifier":"Ververi-Brady syndrome.","acronym":"VERBRAS.","accession":"DI-05250","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by mild developmental delay and intellectual disability, speech delay, learning difficulties, autistic features, and mild facial dysmorphism. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Vertical talus, congenital.","acronym":"CVT.","accession":"DI-01422","synonyms":"Congenital convex pes valgus.; Rocker-bottom foot deformity.; ","cross_references":"MeSH; D005532.","definition":"A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence. ","keywords":null},{"identifier":"Vertebral hypersegmentation and orofacial anomalies.","acronym":"VHO.","accession":"DI-05988","synonyms":null,"cross_references":"MeSH; D013122.","definition":"An autosomal dominant disease characterized by supernumerary ribs, supernumerary cervical, thoracic and/or lumbar vertebrae, and orofacial anomalies such as cleft lip with or without cleft palate in most patients. ","keywords":null},{"identifier":"Vertebral, cardiac, tracheoesophageal, renal, and limb defects.","acronym":"VCTRL.","accession":"DI-06041","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant disorder with incomplete penetrance and variable expressivity, characterized by cardiac, vertebral, tracheo-esophageal, renal and limb defects. Some patients also exhibit craniofacial abnormalities. ","keywords":null},{"identifier":"Vertebral, cardiac, renal, and limb defects syndrome 3.","acronym":"VCRL3.","accession":"DI-05813","synonyms":"Congenital NAD deficiency disorder.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy. ","keywords":null},{"identifier":"Vertebral, cardiac, renal, and limb defects syndrome 2.","acronym":"VCRL2.","accession":"DI-05095","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. ","keywords":null},{"identifier":"Vertebral, cardiac, renal, and limb defects syndrome 1.","acronym":"VCRL1.","accession":"DI-05094","synonyms":"3-hydroxyanthranilic acidemia.; Congenital NAD deficiency disorder 1.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. ","keywords":null},{"identifier":"Vertebral anomalies and variable endocrine and T-cell dysfunction.","acronym":"VETD.","accession":"DI-05435","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments. ","keywords":null},{"identifier":"Verheij syndrome.","acronym":"VRJS.","accession":"DI-03999","synonyms":"Chromosome 8q24.3 deletion syndrome.; ","cross_references":"MeSH; D000015.","definition":"A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. ","keywords":null},{"identifier":"Ventriculomegaly with cystic kidney disease.","acronym":"VMCKD.","accession":"DI-04346","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis. ","keywords":null},{"identifier":"Ventriculomegaly and arthrogryposis.","acronym":"VENARG.","accession":"DI-06216","synonyms":null,"cross_references":"MeSH; D006849.","definition":"An autosomal recessive disorder with fatal outcome, characterized by prenatal onset of severe features including limb contractures, arthrogryposis, and enlarged brain ventricles that may be associated with hydrocephalus, abnormalities of the corpus callosum, and cerebellar hypoplasia. Some affected fetuses may also have congenital heart disease and hydrops fetalis. Death occurs in utero. ","keywords":null},{"identifier":"Ventricular tachycardia, catecholaminergic polymorphic, 6.","acronym":"CPVT6.","accession":"DI-05767","synonyms":null,"cross_references":"MeSH; D017180.","definition":"An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT6 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Ventricular tachycardia, catecholaminergic polymorphic, 4.","acronym":"CPVT4.","accession":"DI-03610","synonyms":"Bidirectional tachycardia.; Double tachycardia induced by catecholamines.; Malignant paroxysmal ventricular tachycardia.; Multifocal ventricular premature beats.; Paroxysmal ventricular fibrillation.; Stress-induced polymorphic ventricular tachycardia.; Syncopal paroxysmal tachycardia.; Syncopal tachyarythmia.; VTSIP.; ","cross_references":"MeSH; D017180.","definition":"An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT4 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Ventricular tachycardia, catecholaminergic polymorphic, 3.","acronym":"CPVT3.","accession":"DI-04918","synonyms":null,"cross_references":"MeSH; D017180.","definition":"An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation. ","keywords":null},{"identifier":"Ventricular tachycardia, catecholaminergic polymorphic, 2.","acronym":"CPVT2.","accession":"DI-00250","synonyms":"Ventricular tachycardia, stress-induced polymorphic 2.; VTSIP2.; ","cross_references":"MeSH; D017180.","definition":"An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy.","acronym":"CPVT1.","accession":"DI-00249","synonyms":"Bidirectional tachycardia.; Double tachycardia induced by catecholamines.; Malignant paroxysmal ventricular tachycardia.; Multifocal ventricular premature beats.; Paroxysmal ventricular fibrillation.; Stress-induced polymorphic ventricular tachycardia.; Syncopal paroxysmal tachycardia.; Syncopal tachyarythmia.; Ventricular tachycardia, stress-induced polymorphic 1.; Ventricular tachycardia catecholaminergic polymorphic 1.; VTSIP.; VTSIP1.; ","cross_references":"MeSH; D017180.","definition":"An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Ventricular septal defect 3.","acronym":"VSD3.","accession":"DI-03331","synonyms":null,"cross_references":"MeSH; D006345.","definition":"A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. ","keywords":null},{"identifier":"Ventricular septal defect 2.","acronym":"VSD2.","accession":"DI-03330","synonyms":null,"cross_references":"MeSH; D006345.","definition":"A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. ","keywords":null},{"identifier":"Ventricular septal defect 1.","acronym":"VSD1.","accession":"DI-03329","synonyms":null,"cross_references":"MeSH; D006345.","definition":"A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. ","keywords":null}]}