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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 term: Wolcott-Rallison dysplasia
OMIM
ClinVar
RGD
PMID:7551159 PMID:10932183 PMID:12960215 PMID:16813601 PMID:25741868 More... RGD:734923 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Wolcott-Rallison syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            carbohydrate metabolic disorder 2559
              glucose metabolism disease 1872
                diabetes 1477
                  diabetes mellitus 1463
                    type 1 diabetes mellitus 326
                      Wolcott-Rallison syndrome 1
paths to the root