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{
"identifier": "Vitreoretinopathy, exudative 2.",
"acronym": "EVR2.",
"accession": "DI-01127",
"synonyms": "EVRX.; Exudative vitreoretinopathy familial 2.; FEVRX.; FEVR X-linked.; X-linked familial exudative vitreoretinopathy.; ",
"cross_references": "MeSH; D012164.",
"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. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 4.",
"acronym": "EVR4.",
"accession": "DI-01128",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"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. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 5.",
"acronym": "EVR5.",
"accession": "DI-02686",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"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. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 6.",
"acronym": "EVR6.",
"accession": "DI-04484",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A form of exudative vitreoretinopathy, 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. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 7.",
"acronym": "EVR7.",
"accession": "DI-05042",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "A form of exudative vitreoretinopathy, 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. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, neovascular inflammatory.",
"acronym": "VRNI.",
"accession": "DI-03622",
"synonyms": "ADNIV.; Neovascular inflammatory vitreoretinopathy autosomal dominant.; Proliferative vitreoretinopathy.; PVR.; ",
"cross_references": "MeSH; D018630.",
"definition": "An autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. Patients present during the second or third decade of life with posterior uveitis and reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema, and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage disease is marked by phthisis. ",
"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
},
{
"identifier": "Vohwinkel syndrome.",
"acronym": "VOWNKL.",
"accession": "DI-01129",
"synonyms": "Congenital deafness with keratopachydermia and constrictions of fingers and toes.; Keratoderma hereditarium mutilans.; KHM.; Mutilating keratoderma.; ",
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. ",
"keywords": "KW-0209:Deafness.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Vohwinkel syndrome with ichthyosis.",
"acronym": "VSI.",
"accession": "DI-01130",
"synonyms": "LK.; Loricrin keratoderma.; Mutilating keratoderma with ichthyosis.; Vohwinkel syndrome variant form.; ",
"cross_references": "MeSH; D017880.",
"definition": "A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. ",
"keywords": "KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "von Hippel-Lindau disease.",
"acronym": "VHLD.",
"accession": "DI-01131",
"synonyms": "VHLS.; Von Hippel-Lindau syndrome.; ",
"cross_references": "MeSH; D006623.",
"definition": "VHLD is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. VHL type 1 is without pheochromocytoma, type 2 is with pheochromocytoma. VHL type 2 is further subdivided into types 2A (pheochromocytoma, retinal angioma, and hemangioblastomas without renal cell carcinoma and pancreatic cyst) and 2B (pheochromocytoma, retinal angioma, and hemangioblastomas with renal cell carcinoma and pancreatic cyst). ",
"keywords": null
},
{
"identifier": "von Willebrand disease 1.",
"acronym": "VWD1.",
"accession": "DI-02903",
"synonyms": "von Willebrand disease type I.; von Willebrand factor deficiency type 1.; ",
"cross_references": "MeSH; D056725.",
"definition": "A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. ",
"keywords": null
},
{
"identifier": "von Willebrand disease 2.",
"acronym": "VWD2.",
"accession": "DI-02904",
"synonyms": "Von Willebrand disease Normandy variant.; Von Willebrand disease type 2A.; Von Willebrand disease type 2B.; Von Willebrand disease type 2M.; Von Willebrand disease type 2 Malmo.; Von Willebrand disease type 2N.; von Willebrand disease type II.; Von Willebrand disease type I New York.; von Willebrand factor deficiency type 2.; VWD2A.; VWD2B.; VWD2M.; VWD2N.; ",
"cross_references": "MeSH; D056728.",
"definition": "A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet- dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. ",
"keywords": null
},
{
"identifier": "von Willebrand disease 3.",
"acronym": "VWD3.",
"accession": "DI-02734",
"synonyms": "von Willebrand disease recessive form.; von Willebrand disease type III.; von Willebrand factor deficiency type 3.; ",
"cross_references": "MeSH; D056729.",
"definition": "A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses. ",
"keywords": null
},
{
"identifier": "von Willebrand disease, platelet-type.",
"acronym": "VWDP.",
"accession": "DI-02415",
"synonyms": "BDPLT3.; Bleeding disorder platelet-type 3.; Pseudo-von Willebrand disease.; Pseudo-vWD.; ",
"cross_references": "MeSH; D014842.",
"definition": "An autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. ",
"keywords": null
},
{
"identifier": "Vulto-van Silfout-de Vries syndrome.",
"acronym": "VSVS.",
"accession": "DI-04122",
"synonyms": "IDDISBAS.; Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures.; MRD24.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Waardenburg syndrome 1.",
"acronym": "WS1.",
"accession": "DI-01133",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Waardenburg syndrome 2A.",
"acronym": "WS2A.",
"accession": "DI-01135",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Waardenburg syndrome 2D.",
"acronym": "WS2D.",
"accession": "DI-01136",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Waardenburg syndrome 2E.",
"acronym": "WS2E.",
"accession": "DI-01137",
"synonyms": "Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation.; Kallmann syndrome and deafness with or without hypopigmentation.; Waardenburg syndrome type 2E with or without neurologic involvement.; Waardenburg syndrome type IIE.; WS2E with or without neurologic involvement.; ",
"cross_references": "MeSH; D014849.",
"definition": "An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome. ",
"keywords": "KW-0897:Waardenburg syndrome.; KW-0956:Kallmann syndrome.; "
},
{
"identifier": "Waardenburg syndrome 2F.",
"acronym": "WS2F.",
"accession": "DI-06468",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "A form of Waardenburg syndrome, an auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. WS2F is an autosomal recessive form with variable expressivity, characterized by congenital or neonatal-onset sensorineural hearing loss. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
}
]
}