Version: 8.0.0
Date: Tue Jan 28 2025
Wolcott-Rallison syndrome
DOID:0090060
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
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Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

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