Term Name: diastrophic dysplasia
Synonyms:
Definition: An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
Ontology: Human Disease [DOID:14687]   ( DOID:14687 )

Relationships
is a type of: autosomal recessive disease osteochondrodysplasia