monogenic disease

monogenic disease Show first 5 Terms

Aicardi-Goutieres syndrome autosomal dominant disease autosomal hemophilia A autosomal recessive disease blepharophimosis, ptosis, and epicanthus inversus syndrome ... Show All 32 Terms

Aicardi-Goutieres syndrome autosomal dominant disease 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 desmoid disease hereditary spastic paraplegia 30 hypophosphatasia McCune Albright syndrome neurodevelopmental disorder with hypotonia and speech delay retinitis pigmentosa 86 Robinow syndrome septooptic dysplasia Sotos syndrome spondylocostal dysostosis 5 syndromic microphthalmia 8 syndromic microphthalmia 12 syndromic microphthalmia 14 thrombophilia due to thrombomodulin defect tubulinopathy Weill-Marchesani syndrome Show first 5 Terms