OBO ID: DOID:0090060 |
Term Name: | Wolcott-Rallison syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0090060 ) |
OTHER Wolcott-Rallison syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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