Additional Disease Briefs
autosomal dominant optic atrophy plus syndrome
Also known as: DOA+, Treft-Sanborn-Carey syndrome, dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy, optic atrophy - deafness- polyneuropathy - myopathy, optic atrophy type 8, optic atrophy-deafness-polyneuropathy-myopathy syndrome
autosomal dominant optic atrophy, classic form
Also known as: Kjer optic atrophy, Kjer-type optic atrophy, OAK, OPA1, autosomal dominant optic atrophy, Kjer type, optic atrophy 1, optic atrophy type 1, optic atrophy, Kjer type, optic atrophy, juvenile
autosomal dominant osteopetrosis 1
Also known as: LRP5 osteopetrosis (disease), OPTA1, autosomal dominant osteopetrosis type 1, osteopetrosis (disease) caused by mutation in LRP5, osteopetrosis autosomal dominant type 1, osteopetrosis, autosomal dominant 1, osteopetrosis, autosomal dominant type 1, osteopetrosis, autosomal dominant, type 1
autosomal dominant osteopetrosis 2
Also known as: Albers-Schonberg disease, autosomal dominant, Albers-Schonberg osteopetrosis, Albers-Schönberg osteopetrosis, OPTA2, autosomal dominant Albers-Schonberg disease, autosomal dominant osteopetrosis type 2, autosomal dominant osteopetrosis type II, marble bones, autosomal dominant, osteopetrosis autosomal dominant type 2, osteopetrosis, autosomal dominant 2, osteopetrosis, autosomal dominant type 2, osteopetrosis, autosomal dominant, type 2, osteosclerosis Fragilis generalisata
autosomal dominant osteosclerosis, Worth type
Also known as: Ostéosclérose autosomique dominante type Worth, VBCH2, Van Buchem disease type 2, Van Buchem disease, type 2, Worth syndrome, Worth's syndrome, autosomal dominant endosteal hyperostosis, autosomal dominant osteosclerosis, benign form of Worth hyperostosis corticalis generalisata with torus platinus, endosteal hyperostosis, Worth type, endosteal hyperostosis, autosomal dominant, hyperostosis corticalis generalisata, benign form of Worth with torus palatinus, hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus, hyperostosis, endosteal, osteosclerosis of the skull and enlarged mandible, osteosclerosis, autosomal dominant, osteosclerosis, autosomal dominant, Worth type
autosomal dominant palmoplantar keratoderma and congenital alopecia
Also known as: PPK-CA, Stevanovic type, PPKCA1, Ppkca, Stevanovic type, alopecia congenita with hyperkeratosis of the palms and soles, autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, keratoderma-hypotrichosis-leukonychia totalis syndrome, palmoplantar keratoderma and congenital alopecia 1, palmoplantar keratoderma and congenital alopecia type 1, palmoplantar keratoderma and congenital alopecia, Stevanovic type, palmoplantar keratoderma with congenital alopecia
autosomal dominant Parkinson disease 1
Also known as: PARK1, Parkinson disease 1, autosomal dominant, Parkinson disease 1, autosomal dominant Lewy body, atypical Parkinson disease, autosomal dominant Parkinson disease 1, autosomal dominant Parkinson disease type 1, autosomal dominant Parkinson's disease 1
autosomal dominant Parkinson disease 4
Also known as: PARK4, Parkinson disease 4, autosomal dominant, Parkinson disease 4, autosomal dominant Lewy body, autosomal dominant Lewy body Parkinson disease 4, autosomal dominant Parkinson disease 4, autosomal dominant Parkinson disease type 4, autosomal dominant Parkinson's disease 4
autosomal dominant Parkinson disease 8
Also known as: LRRK2 Parkinson disease, PARK8, Parkinson disease 8, Parkinson disease 8, autosomal dominant, Parkinson disease caused by mutation in LRRK2, autosomal dominant Parkinson disease 8, autosomal dominant Parkinson disease type 8, autosomal dominant Parkinson's disease 8