DISEASES

Disease-gene associations mined from literature

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