OBO ID: DOID:0090060
Term Name: Wolcott-Rallison syndrome Search Ontology:
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 )
OTHER Wolcott-Rallison syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EIF2AK3 Wolcott-Rallison syndrome 226980
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None