Additional Disease Briefs

NORD Summit 2026 Banner Ad

UV-sensitive syndrome 3

Also known as: UV-sensitive syndrome 3, UV-sensitive syndrome caused by mutation in UVSSA, UV-sensitive syndrome type 3, UVSS3, UVSSA UV-sensitive syndrome


uveal coloboma-cleft lip and palate-intellectual disability

Also known as: COB1, coloboma, cleft lip/palate and intellectual disability syndrome, coloboma, cleft lip/palate and mental retardation syndrome, coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability, coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, coloboma-microphthalmos syndrome, coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate, uveal coloboma-cleft lip and palate-intellectual disability, uveal coloboma-cleft lip/palate-intellectual disability syndrome, uveal coloboma-cleft lip/palate-mental retardation syndrome


uveal melanoma

Also known as: choroidal melanoma, intraocular melanoma, iris melanoma, melanoma (disease) of uvea, melanoma of the uvea, melanoma of uvea, melanoma, uveal, malignant, uvea melanoma, uvea melanoma (disease), uveal melanoma




vaginal germ cell malignant tumor

Also known as: malignant germ cell tumor of the vagina, malignant germ cell tumour of the vagina, vagina malignant germ cell tumor, vagina malignant germ cell tumour, vaginal germ cell cancer


vaginal rhabdomyosarcoma

Also known as: rhabdomyosarcoma (disease) of vagina, vagina rhabdomyosarcoma, vagina rhabdomyosarcoma (disease), vaginal rhabdomyosarcoma, vulvovaginal rhabdomyosarcoma



van den Ende-Gupta syndrome

Also known as: Marden Walker like syndrome, Marden Walker like syndrome without psychomotor retardation, Marden-Walker-like syndrome, Marden-Walker-like syndrome without psychomotor retardation, VAN DEN Ende-Gupta syndrome, VDEGS, Van den Ende Gupta syndrome, blepharophimosis, arachnodactyly, and congenital contractures, van den Ende-Gupta syndrome