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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Wolcott-Rallison syndrome
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Accession:DOID:0090060 term browser browse the term
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. (DO)
Synonyms:exact_synonym: IDDM-MED syndrome;   Wolcott-Rallison dysplasia;   multiple epiphyseal dysplasia with early-onset diabetes mellitus
 primary_id: MESH:C536739
 alt_id: OMIM:226980
 xref: ICD10CM:E13;   ORDO:1667
For additional species annotation, visit the Alliance of Genome Resources.


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Wolcott-Rallison syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by OMIM:226980
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
OMIM
ClinVar
PMID:7551159 PMID:10932183 PMID:12960215 PMID:16813601 PMID:25741868 PMID:26380986 PMID:28492532, PMID:10932183 RGD:734923 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Wolcott-Rallison syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        acquired metabolic disease 2787
          carbohydrate metabolism disease 1757
            glucose metabolism disease 1757
              diabetes mellitus 1371
                type 1 diabetes mellitus 302
                  Wolcott-Rallison syndrome 1
paths to the root