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ONTOLOGY REPORT - ANNOTATIONS


Term:Wolcott-Rallison syndrome
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Accession:DOID:0090060 term browser browse the term
Definition:A characterized by autosomal recessive inheritance of 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 EIF2AK3 gene on chromosome 2p11.2. (DO)
Synonyms:exact_synonym: Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus;   IDDM-MED syndrome;   WOLCOTT-RALLISON DYSPLASIA
 primary_id: MESH:C536739;   RDO:0002406
 alt_id: OMIM:226980
 xref: ORDO:1667
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Wolcott-Rallison syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 JBrowse link 4 98,648,513 98,709,695 RGD:734923
RGD:7240710
RGD:8554872

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  disease 14759
    syndrome 4210
      Wolcott-Rallison syndrome 1
Path 2
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  disease 14759
    Nutritional and Metabolic Diseases 4150
      disease of metabolism 4150
        acquired metabolic disease 2562
          carbohydrate metabolism disease 1724
            glucose metabolism disease 1724
              diabetes mellitus 1314
                type 1 diabetes mellitus 315
                  Wolcott-Rallison syndrome 1
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