Visualize Submit Comment
Metadata
ID DOID:0090060
Name Wolcott-Rallison syndrome
Definition An autosomal recessive disease 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.
https://www.ncbi.nlm.nih.gov/pubmed/30906465, https://www.omim.org/entry/226980
Xrefs

ICD10CM:E13

MESH:C536739

OMIM:226980

ORDO:1667

Parent Relationships

is_a autosomal recessive disease

Add an item to the term tracker