Search Ontology:
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
Ontology
Human Disease   ( DOID:0090060 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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