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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, regulator type OMIM
ClinVar
PMID:8563755 PMID:9442063 PMID:9454778 PMID:9746795 PMID:9915949 More... NCBI chr 9:20,069,800...20,097,836
Ensembl chr 9:20,069,807...20,097,836
JBrowse link
G Rhd Rh blood group, D antigen ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:147,087,479...147,121,716
Ensembl chr 5:147,087,518...147,121,715
JBrowse link
G Rsrp1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:147,147,774...147,151,523
Ensembl chr 5:147,147,784...147,151,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      Rh deficiency syndrome 3
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Hemic and Lymphatic Diseases 3296
        hematopoietic system disease 2834
          anemia 666
            normocytic anemia 251
              hemolytic anemia 251
                Rh deficiency syndrome 3
paths to the root