Term Name: achondrogenesis type IB
Synonyms: achondrogenesis Fraccaro type
Definition: An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
Ontology: Human Disease [DOID:0080055]   ( DOID:0080055 )

Relationships
is a type of: achondrogenesis autosomal recessive disease