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