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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: OMIM:614081;   RDO:9000701
For additional species annotation, visit the Alliance of Genome Resources.



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 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 18109
    disease of anatomical entity 17480
      hematopoietic system disease 2822
        blood protein disease 516
          Anhaptoglobinemia 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Hemic and Lymphatic Diseases 3279
        hematopoietic system disease 2822
          blood protein disease 516
            Anhaptoglobinemia 1
paths to the root