Additional Disease Briefs

NORD Summit 2026 Banner Ad

exfoliative ichthyosis

Also known as: autosomal recessive exfoliative ichthyosis, exfoliative ichthyosis, ichthyosis exfoliativa


exostoses, multiple, type 1

Also known as: EXT, EXT1 exostoses, multiple, diaphyseal Aclasis, exostoses, multiple caused by mutation in EXT1, exostoses, multiple, type 1, exostoses, multiple, type I, multiple cartilaginous exostoses, multiple osteochondromas, osteochondromatosis


exostoses, multiple, type 2

Also known as: EXT2 Gene, EXT2 exostoses, multiple, Ext2, exostoses (Multiple) 2 Gene, exostoses, multiple caused by mutation in EXT2, exostoses, multiple, type 2, exostoses, multiple, type II





external auditory canal atresia-vertical talus-hypertelorism syndrome

Also known as: Rasmussen Johnsen Thomsen syndrome, Rasmussen syndrome, Rasmussen-Johnsen-Thomsen syndrome, external auditory canal, bilateral atresia of, with congenital vertical talus, inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance