WormBase Tree Display for DO_term: DOID:0090060
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| DOID:0090060 | Name | Wolcott-Rallison syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 226980 | |
| Attribute_of | Gene_by_orthology | WBGene00003970 | |||
| WBGene00012586 |
