Term Name: Wolcott-Rallison syndrome
Synonyms:
Definition: A syndrome that is characterized by 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 eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2.
Ontology: Human Disease [DOID:0090060]   ( DOID:0090060 )

Relationships
is a type of: autosomal recessive disease syndrome