An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)
autosomal hemophilia A
autosomal recessive disease +
blepharophimosis, ptosis, and epicanthus inversus syndrome +
camptodactyly-tall stature-scoliosis-hearing loss syndrome
combined oxidative phosphorylation deficiency 55
congenital nystagmus 1
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome +
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis +
familial Mediterranean fever +
focal segmental glomerulosclerosis 3
Gillespie syndrome
hereditary spastic paraplegia 30
hypophosphatasia +
McCune Albright syndrome
neurodevelopmental disorder with hypotonia and speech delay