DISEASES

Disease-gene associations mined from literature

Human genes for diastrophic dysplasia

Diastrophic dysplasia [DOID:14687]

An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.

Synonyms:  diastrophic dysplasia,  DOID:14687