Human genes for rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata [DOID:2580]
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: rhizomelic chondrodysplasia punctata, DOID:2580, Chondrodysplasia Punctata, Rhizomelic Form, Chondrodysplasia Punctata Rhizomelic Form, Rhizomelic Form Chondrodysplasia Punctata