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Metadata
ID	DOID:0090060
Name	Wolcott-Rallison syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/30906465, https://www.omim.org/entry/226980
Xrefs	ICD10CM:E13 MESH:C536739 MIM:226980 ORDO:1667
Subsets	DO_rare_slim
Parent Relationships	is_a syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance has symptom some hepatic dysfunction