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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;   RDO:0013240
 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 OMIM:614034 OMIM
ClinVar
PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Pathological Conditions, Signs and Symptoms 8761
      Pathologic Processes 6137
        Growth Disorders 325
          Heme Oxygenase 1 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Hemic and Lymphatic Diseases 2069
        hematopoietic system disease 1655
          anemia 418
            normocytic anemia 183
              hemolytic anemia 183
                Heme Oxygenase 1 Deficiency 1
paths to the root