{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6620&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6580&ordering=synonyms","results":[{"identifier":"Premature ovarian failure 15.","acronym":"POF15.","accession":"DI-05319","synonyms":null,"cross_references":"MeSH; D016649.","definition":"An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ","keywords":"KW-1066:Premature ovarian failure.; "},{"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":"Ovarian dysgenesis 9.","acronym":"ODG9.","accession":"DI-06295","synonyms":null,"cross_references":"MeSH; D023961.","definition":"An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ","keywords":null},{"identifier":"Orofaciodigital syndrome 14.","acronym":"OFD14.","accession":"DI-04201","synonyms":null,"cross_references":"MeSH; D009958.","definition":"A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Optic disk anomalies with retinal and/or macular dystrophy.","acronym":"ODRMD.","accession":"DI-00757","synonyms":null,"cross_references":"MeSH; D008850.","definition":"An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia. ","keywords":"KW-1013:Microphthalmia.; "},{"identifier":"Optic atrophy 9.","acronym":"OPA9.","accession":"DI-04381","synonyms":null,"cross_references":"MeSH; D015418.","definition":"A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. ","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":"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":"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":"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":"Optic atrophy 5.","acronym":"OPA5.","accession":"DI-05126","synonyms":null,"cross_references":"MeSH; D015418.","definition":"A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia. ","keywords":null},{"identifier":"Optic atrophy 16.","acronym":"OPA16.","accession":"DI-06791","synonyms":null,"cross_references":"MeSH; D015418.","definition":"A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA16 is an autosomal recessive form. Patients also show mild sensorineural hearing impairment. ","keywords":null},{"identifier":"Optic atrophy 15.","acronym":"OPA15.","accession":"DI-06790","synonyms":null,"cross_references":"MeSH; D015418.","definition":"A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA15 is an autosomal recessive form. ","keywords":null},{"identifier":"Optic atrophy 14.","acronym":"OPA14.","accession":"DI-06783","synonyms":null,"cross_references":"MeSH; D015418.","definition":"A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA14 is an autosomal dominant form characterized by adult-onset progressive reduction in visual acuity, and pale and excavated optic disk. Optical coherence tomography discloses a severe loss of the retinal nerve fiber layer. ","keywords":null},{"identifier":"Vitreoretinopathy with phalangeal epiphyseal dysplasia.","acronym":"VPED.","accession":"DI-06065","synonyms":null,"cross_references":"MeSH; D059327.","definition":"An autosomal dominant disorder characterized by rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia resulting in brachydactyly. ","keywords":null}]}