Term Name: | Wolcott-Rallison syndrome |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0090060] ( DOID:0090060 ) |