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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
 alt_id: MESH:C564833;   OMIM:268150
 xref: GARD:12916


show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 21112
    syndrome 10710
      Rh deficiency syndrome 3
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      Hemic and Lymphatic Diseases 0
        hematopoietic system disease 3314
          anemia 771
            normocytic anemia 414
              hemolytic anemia 414
                Rh deficiency syndrome 3
paths to the root