ONTOLOGY REPORT - ANNOTATIONS


Term:Wolcott-Rallison syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Wolcott-Rallison syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        acquired metabolic disease 2671
          carbohydrate metabolism disease 1739
            glucose metabolism disease 1739
              diabetes mellitus 1329
                type 1 diabetes mellitus 317
                  Wolcott-Rallison syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.