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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:Anhaptoglobinemia
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Accession:DOID:9001720 term browser browse the term
Synonyms:exact_synonym: AHP;   Ahaptoglobinemia
 primary_id: MIM:614081;   RDO:9000701


show annotations for term's descendants           Sort by:
Anhaptoglobinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Anhaptoglobinemia ClinVar PMID:25741868 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Hp haptoglobin ISO ClinVar Annotator: match by term: AHAPTOGLOBINEMIA | ClinVar Annotator: match by term: Anhaptoglobinemia OMIM
ClinVar		 PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769 PMID:14999562 More... NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      hematopoietic system disease 3822
        blood protein disease 687
          Anhaptoglobinemia 2
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3822
          blood protein disease 687
            Anhaptoglobinemia 2
paths to the root