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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:Rh deficiency syndrome
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Accession:DOID:0050641 term browser browse the term
Definition:A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. (DO)
Synonyms:exact_synonym: RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE;   RH-mod syndrome;   RHN;   Rh-null disease;   Rh-null syndrome;   Rh-null, regulator type
 narrow_synonym: RHD NEGATIVE
 primary_id: MESH:C562717;   MESH:C564833
 alt_id: OMIM:268150
 xref: GARD:12916
For additional species annotation, visit the Alliance of Genome Resources.


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Rh deficiency syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Rh-null hemolytic anemia, regulator type
ClinVar Annotator: match by term: Rh-null, regulator type
OMIM
ClinVar
PMID:8563755 PMID:9442063 PMID:9454778 PMID:9746795 PMID:9915949 PMID:10467273 PMID:25741868 NCBI chr 9:23,465,190...23,493,081
Ensembl chr 9:23,465,197...23,493,081
JBrowse link
G Rhd Rh blood group, D antigen ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:153,197,416...153,232,009
Ensembl chr 5:153,197,459...153,232,687
JBrowse link
G Rsrp1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:153,260,930...153,264,669
Ensembl chr 5:153,260,930...153,264,669
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Rh deficiency syndrome 3
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      Hemic and Lymphatic Diseases 2220
        hematopoietic system disease 1799
          anemia 427
            normocytic anemia 200
              hemolytic anemia 200
                Rh deficiency syndrome 3
paths to the root