{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=160&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=120&ordering=-identifier","results":[{"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":"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":"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":"Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome.","acronym":"VAIHS.","accession":"DI-04055","synonyms":"ADA2 deficiency.; PAN.; Periarteritis nodosa.; Polyarteritis nodosa.; ","cross_references":"MeSH; D010488.","definition":"An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly. ","keywords":null},{"identifier":"Vascular malformation, primary intraosseous.","acronym":"VMPI.","accession":"DI-04828","synonyms":"Hemangioma, intraosseous.; Vascular malformation osseous.; VMOS.; ","cross_references":"MeSH; D054079.","definition":"An autosomal recessive, rare malformation characterized by non- neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. ","keywords":null},{"identifier":"Variegate porphyria, childhood-onset.","acronym":"VPCO.","accession":"DI-06749","synonyms":"Variegate porphyria, homozygous variant.; ","cross_references":"MeSH; D046350.","definition":"An autosomal recessive form of variegate porphyria, a disorder of heme biosynthesis that results from diminished activity of protoporphyrinogen oxidase. VPCO is characterized by severe protoporphyrinogen oxidase deficiency, onset of photosensitization by porphyrins in early childhood, skin scarring and hyperpigmentation, and skeletal abnormalities of the hand. Additional variable features are short stature, impaired intellectual development, and seizures. VPCO patients rarely experience acute neuropsychiatric or abdominal attacks. ","keywords":null},{"identifier":"Variegate porphyria.","acronym":"VP.","accession":"DI-00928","synonyms":"Porphyria South African type.; Porphyria variegata.; PPOX deficiency.; Protoporphyrinogen oxidase deficiency.; PV.; ","cross_references":"MeSH; D046350.","definition":"A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance. ","keywords":null},{"identifier":"Van Maldergem syndrome 2.","acronym":"VMLDS2.","accession":"DI-03983","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Van Maldergem syndrome 1.","acronym":"VMLDS1.","accession":"DI-03982","synonyms":"Cerebrofacioarticular syndrome.; Cerebro-facio-articular syndrome.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Van Esch-O'Driscoll syndrome.","acronym":"VEODS.","accession":"DI-05626","synonyms":"MRXSVEOD.; ","cross_references":"MeSH; D008607.","definition":"An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Van der Woude syndrome 2.","acronym":"VWS2.","accession":"DI-03278","synonyms":null,"cross_references":"MeSH; D002972.","definition":"An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. ","keywords":null},{"identifier":"Van der Woude syndrome 1.","acronym":"VWS1.","accession":"DI-01123","synonyms":"Cleft lip and/or palate with mucous cysts of lower lip.; Lip-pit syndrome.; LPS.; PIT.; VDWS.; ","cross_references":"MeSH; D002972.","definition":"An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. ","keywords":null},{"identifier":"Van den Ende-Gupta syndrome.","acronym":"VDEGS.","accession":"DI-03057","synonyms":"Blepharophimosis arachnodactyly and congenital contractures.; Marden-Walker-like syndrome without psychomotor retardation.; ","cross_references":"MeSH; D054119.","definition":"A syndrome characterized by craniofacial and skeletal abnormalities that include blepharophimosis, a flat and wide nasal bridge, narrow and beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, prominent ears, down-slanting eyes, arachnodactyly, and camptodactyly. Patients present congenital joint contractures that improve without intervention, and normal growth and development. Intelligence is normal. Rarely, enlarged cerebella can be present. Some patients experience respiratory problems due to laryngeal abnormalities. ","keywords":null},{"identifier":"Van Buchem disease 2.","acronym":"VBCH2.","accession":"DI-01122","synonyms":null,"cross_references":"MeSH; D010009.","definition":"VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels. ","keywords":null},{"identifier":"Van Buchem disease.","acronym":"VBCH.","accession":"DI-01121","synonyms":"Endosteal hyperostosis autosomal recessive.; Hyperostosis corticalis generalisata.; Hyperphosphatasemia tarda.; ","cross_references":"MeSH; D010009.","definition":"VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated. ","keywords":null},{"identifier":"VACTERL association X-linked with or without hydrocephalus.","acronym":"VACTERLX.","accession":"DI-02462","synonyms":"VACTERL syndrome.; Vertebral anal tracheoesophageal esophageal radial anomalies.; X-linked VACTERL-H.; ","cross_references":"MeSH; D000015.","definition":"A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement. ","keywords":null},{"identifier":"VACTERL association with hydrocephalus.","acronym":"VACTERL-H.","accession":"DI-02408","synonyms":null,"cross_references":"MedGen; C2749240.","definition":"VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. ","keywords":null},{"identifier":"VACTERL association.","acronym":"VACTERL.","accession":"DI-02577","synonyms":null,"cross_references":"MedGen; C1735591.","definition":"VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. ","keywords":null},{"identifier":"UV-sensitive syndrome 3.","acronym":"UVSS3.","accession":"DI-03444","synonyms":null,"cross_references":"MeSH; D052245.","definition":"An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. ","keywords":null},{"identifier":"UV-sensitive syndrome 2.","acronym":"UVSS2.","accession":"DI-03443","synonyms":null,"cross_references":"MeSH; D052245.","definition":"An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. ","keywords":null}]}