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Human Disease
Wolcott-Rallison syndrome
- Term ID
- DOID:0090060
- 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. (2)
- References
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- ICD10CM:E13
- MESH:C536739
- OMIM:226980
- ORDO:1667
- Ontology
- Human Disease ( DOID:0090060 )
- is a type of
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