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"count": 6723,
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"results": [
{
"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": "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": "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": "Vesicoureteral reflux 3.",
"acronym": "VUR3.",
"accession": "DI-02977",
"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": "Vesicoureteral reflux 8.",
"acronym": "VUR8.",
"accession": "DI-04199",
"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": "VEXAS syndrome.",
"acronym": "VEXAS.",
"accession": "DI-05955",
"synonyms": "Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic.; VEXAS syndrome, somatic.; ",
"cross_references": "MeSH; D007249.",
"definition": "A sporadic, often fatal, treatment-refractory inflammatory syndrome that develops in late adulthood. Clinical features include fevers, cytopenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis. The disease affects only males and is associated with de novo somatic mutations. ",
"keywords": null
},
{
"identifier": "Vibratory urticaria.",
"acronym": "VBU.",
"accession": "DI-04656",
"synonyms": "Dermodistortive urticaria.; Vibratory angioedema.; ",
"cross_references": "MeSH; D000799.",
"definition": "An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. ",
"keywords": null
},
{
"identifier": "Vici syndrome.",
"acronym": "VICIS.",
"accession": "DI-03646",
"synonyms": "Immunodeficiency with cleft lip/palate cataract hypopigmentation and absent corpus callosum.; ",
"cross_references": "MeSH; D061085.",
"definition": "A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Visceral myopathy 1.",
"acronym": "VSCM1.",
"accession": "DI-04078",
"synonyms": "Berdon syndrome.; Idiopathic intestinal pseudoobstruction.; Infantile visceral myopathy.; Megacystis-microcolon-intestinal hypoperistalsis syndrome.; Megaduodenum and/or megacystis.; MMIH.; ",
"cross_references": "MeSH; D007418.",
"definition": "An autosomal dominant form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization. ",
"keywords": null
},
{
"identifier": "Visceral myopathy 2.",
"acronym": "VSCM2.",
"accession": "DI-06119",
"synonyms": null,
"cross_references": "MeSH; D007418.",
"definition": "A form of visceral myopathy, a gastrointestinal pseudo-obstruction disorder characterized by impaired function of enteric smooth muscle cells, intestinal dysmotility and paresis, severe abdominal pain, and malnutrition. The disease shows inter- and intrafamilial variability. VSCM2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Visceral neuropathy, familial, 1, autosomal recessive.",
"acronym": "VSCN1.",
"accession": "DI-06181",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Additional variable features are progressive peripheral neuropathy, arthrogryposis, hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, microtia or anotia, and facial dysmorphism. Some patients present structural cardiac anomalies and arthrogryposis with multiple pterygia. ",
"keywords": null
},
{
"identifier": "Visceral neuropathy, familial, 2, autosomal recessive.",
"acronym": "VSCN2.",
"accession": "DI-06182",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Patients also show peripheral axonal neuropathy, hypotonia, mild developmental delay, unilateral ptosis, and sensorineural hearing loss. ",
"keywords": null
},
{
"identifier": "Vissers-Bodmer syndrome.",
"acronym": "VIBOS.",
"accession": "DI-05920",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, intellectual disability of varying degree, speech delay, motor delay, and hypotonia. Abnormal growth, and cerebral, skeletal, muscle and soft tissue abnormalities are frequently observed. Many patients have behavioral problems, including anxiety, obsessive compulsive disorder, autism spectrum disorder and attention deficit-hyperactivity disorder. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "VISS syndrome.",
"acronym": "VISS.",
"accession": "DI-06191",
"synonyms": null,
"cross_references": "MeSH; D003240.",
"definition": "An autosomal recessive disease characterized by early-onset thoracic aortic aneurysm, aneurysm and tortuosity of other arteries, motor developmental delay, connective tissue findings such as joint hypermobility, skin laxity and hernias, and craniofacial dysmorphic features. Immune dysregulation has been reported in some patients. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Visual impairment and progressive phthisis bulbi.",
"acronym": "VIPB.",
"accession": "DI-05463",
"synonyms": null,
"cross_references": "MeSH; D005128.",
"definition": "An autosomal recessive, progressive disease characterized by poor vision at birth and development of bilateral phthisis bulbi by adulthood. ",
"keywords": null
},
{
"identifier": "Vitamin D-dependent rickets 3.",
"acronym": "VDDR3.",
"accession": "DI-05946",
"synonyms": "Vitamin D-dependent rickets, type 3.; ",
"cross_references": "MeSH; D012279.",
"definition": "An autosomal dominant disorder of vitamin D metabolism resulting in early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to parent and activated forms of vitamin D. ",
"keywords": null
},
{
"identifier": "Vitiligo.",
"acronym": "VTLG.",
"accession": "DI-02735",
"synonyms": "Generalized vitiligo.; ",
"cross_references": "MeSH; D014820.",
"definition": "A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases. ",
"keywords": null
},
{
"identifier": "Vitiligo-associated multiple autoimmune disease 1.",
"acronym": "VAMAS1.",
"accession": "DI-02736",
"synonyms": "SLEV1.; Systemic lupus erythematosus vitiligo-related.; ",
"cross_references": "MeSH; D001327.",
"definition": "A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. ",
"keywords": null
},
{
"identifier": "Vitreoretinochoroidopathy.",
"acronym": "VRCP.",
"accession": "DI-01125",
"synonyms": "ADVIRC.; Vitreoretinochoroidopathy, autosomal dominant.; Vitreoretinochoroidopathy autosomal dominant with nanophthalmos, microcornea, rod-cone dystrophy, cataract and posterior staphyloma.; Vitreoretinochoroidopathy with microcornea-glaucoma-cataract.; ",
"cross_references": "MeSH; D015862.",
"definition": "An autosomal dominant ocular disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 1.",
"acronym": "EVR1.",
"accession": "DI-01126",
"synonyms": "Autosomal dominant familial exudative vitreoretinopathy.; Criswick-Schepens syndrome.; FEVR.; ",
"cross_references": "MeSH; D012178.",
"definition": "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history. ",
"keywords": null
}
]
}