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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.



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Splenic Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Asplenia, isolated congenital ClinVar PMID:20846672 PMID:22560297 PMID:23579497 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: Asplenia ClinVar PMID:25741868 NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
G Rpsa ribosomal protein SA ISO ClinVar Annotator: match by term: Asplenia, isolated congenital | ClinVar Annotator: match by term: HYPOSPLENIA, ISOLATED CONGENITAL OMIM
ClinVar
PMID:9162158 PMID:20846672 PMID:22560297 PMID:23579497 PMID:24033266 More... NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        Splenic Hypoplasia 3
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          primary immunodeficiency disease 3831
            Splenic Hypoplasia 3
paths to the root