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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:Heme Oxygenase 1 Deficiency
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Accession:DOID:9008996 term browser browse the term
Synonyms:exact_synonym: HMOX1D
 primary_id: MESH:C564200
 alt_id: OMIM:614034
For additional species annotation, visit the Alliance of Genome Resources.



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Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by term: Heme oxygenase 1 deficiency OMIM
ClinVar
PMID:9884342 PMID:21088618 PMID:22023467 PMID:26526137 PMID:28492532 More... NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Pathological Conditions, Signs and Symptoms 11282
      Pathologic Processes 7739
        Growth Disorders 875
          Heme Oxygenase 1 Deficiency 1
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
                Heme Oxygenase 1 Deficiency 1
paths to the root