DISEASES

Disease-gene associations mined from literature

Human genes for Stickler syndrome

Stickler syndrome [DOID:0080046]

An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.

Synonyms:  Stickler syndrome,  DOID:0080046,  Stickler disease,  Stickler disorder

Linkouts:  OMIM #1 #2 #3 #4 #5 #6