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, diastrophic dysplasias, DOID:14687
Linkouts: OMIM