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"count": 6723,
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{
"identifier": "Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations.",
"acronym": "RVCLS.",
"accession": "DI-00261",
"synonyms": "Cerebroretinal vasculopathy.; CRV.; Hereditary endotheliopathy with retinopathy-nephropathy-stroke.; HERNS.; Vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena.; ",
"cross_references": "MeSH; D012164.",
"definition": "An adult-onset, autosomal dominant endotheliopathy affecting the microvessels of the brain. It results in central nervous system degeneration and retinopathy, with progressive loss of vision, stroke, motor impairment, and cognitive decline. The ocular manifestations are characterized by telangiectasias, microaneurysms and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors. A subset of patients have systemic vascular involvement that can manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Velocardiofacial syndrome.",
"acronym": "VCFS.",
"accession": "DI-02410",
"synonyms": "Chromosome 22q11.2 deletion syndrome.; Shprintzen VCF syndrome.; VCF syndrome.; Velo-cardio-facial syndrome.; ",
"cross_references": "MeSH; D004062.",
"definition": "A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders. ",
"keywords": null
},
{
"identifier": "Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome.",
"acronym": "VACRDS.",
"accession": "DI-06122",
"synonyms": "RYR2 calcium release deficiency syndrome.; ",
"cross_references": "MeSH; D017180.",
"definition": "An autosomal dominant arrhythmogenic disorder characterized by syncope, cardiac arrest and/or sudden unexpected death, often in association with physical exertion or acute emotional stress. Patients who survive manifest polymorphic ventricular tachycardia and ventricular fibrillation. Unlike typical catecholaminergic ventricular tachycardia, arrhythmias are not reproducible on exercise stress testing or adrenaline challenge. ",
"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
},
{
"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 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 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 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, 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, 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, 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": "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": "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": "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": "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": "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, 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 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, 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 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
}
]
}