Additional Disease Briefs


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


autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Also known as: PKDTS chromosome 16P13.3 deletion syndrome, distal polycystic kidney disease, infantile severe, with tuberous sclerosis polycystic kidneys, severe infantile with tuberous sclerosis tuberous sclerosis polycystic kidney disease contiguous gene syndrome tuberous sclerosis/polycystic kidney disease contiguous gene syndrome


autosomal dominant popliteal pterygium syndrome

Also known as: PPS cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies facio-genito-popliteal syndrome faciogenitopopliteal syndrome popliteal pterygium syndrome popliteal pterygium syndrome 1 popliteal pterygium syndrome, autosomal dominant popliteal web syndrome