Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:IMAGEI Syndrome
go back to main search page
Accession:DOID:9000282 term browser browse the term
Synonyms:exact_synonym: IMAGEI;   intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
 primary_id: OMIM:618336
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
IMAGEI Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency OMIM
ClinVar
PMID:14760276 PMID:16835919 PMID:20091185 PMID:21129811 PMID:23263490 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      immune system disease 4371
        IMAGEI Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              osteochondrodysplasia 604
                metaphyseal dysplasia 12
                  IMAGEI Syndrome 1
paths to the root