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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


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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
ISS		 DNA:insertion, missense mutation:1103insT, 1832G>A (p.R587Q) (human)
ClinVar Annotator: match by term: Wolcott-Rallison dysplasia
CTD Direct Evidence: marker/mechanism
OMIM:226980		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID:16813601 More... RGD:734923 NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      Wolcott-Rallison syndrome 1
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          inherited metabolic disorder 6169
            carbohydrate metabolic disorder 3227
              glucose metabolism disease 2028
                diabetes mellitus 1618
                  type 1 diabetes mellitus 378
                    Wolcott-Rallison syndrome 1
paths to the root