DISEASES

Disease-gene associations mined from literature

Human genes for corneal dystrophy

Corneal dystrophy [DOID:2566]

A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.

Synonyms:  corneal dystrophy,  DOID:2566,  hereditary corneal dystrophy,  familial corneal dystrophy

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8 #9 #10 #11 #12 #13