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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:Splenic Hypoplasia
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Accession:DOID:9003735 term browser browse the term
Synonyms:exact_synonym: Asplenia;   Asplenia, Familial;   Asplenia, Isolated Congenital;   Hyposplenia, Isolated Congenital;   ICAS
 primary_id: MESH:C563028;   OMIM:271400;   RDO:0012484
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Splenic Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Asplenia ClinVar NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Asplenia ClinVar NCBI chr 4:170,807,633...170,822,514
Ensembl chr 4:170,820,594...170,821,995
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by null ClinVar PMID:20846672 PMID:22560297 PMID:23579497 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Rpsa ribosomal protein SA ISO ClinVar Annotator: match by term: Asplenia, isolated congenital
ClinVar Annotator: match by OMIM:271400
OMIM
ClinVar
PMID:9162158 PMID:20846672 PMID:22560297 PMID:23579497 PMID:25741868 NCBI chr 8:128,806,053...128,809,987
Ensembl chr 8:128,806,129...128,809,986
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        Splenic Hypoplasia 4
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Immune & Inflammatory Diseases 3881
        immune system disease 3249
          primary immunodeficiency disease 2694
            Splenic Hypoplasia 4
paths to the root