DISEASES

Disease-gene associations mined from literature

Human genes for Wolcott-Rallison syndrome

Wolcott-Rallison syndrome [DOID:0090060]

A characterized by autosomal recessive inheritance of permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the EIF2AK3 gene on chromosome 2p11.2.

Synonyms:  Wolcott-Rallison syndrome,  DOID:0090060,  WolcottRallison syndrome,  Wolcott-Rallison disease,  Wolcott-Rallison disorder ...