Echinobase will be undergoing a hardware update June 14 and 15, 2023 and therefore will be unavailable those days.

We apologize for the inconvenience.

 Click on this message to dismiss it.
Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
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.

Synonyms:

Echinobase Genes : eif2ak3


OMIM:
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)