DOID:0090060 - Wolcott-Rallison syndrome
Disease Ontology Definition: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.
Echinobase Genes : eif2ak3
|OMIM:226980 - epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)