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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:Methemoglobin Reductase Deficiency
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Accession:DOID:9000903 term browser browse the term
Synonyms:exact_synonym: NADPH-dependent methemoglobin reductase deficiency;   TPNH-methemoglobin reductase deficiency
 primary_id: MESH:C563171
 alt_id: MIM:250700


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        inherited metabolic disorder 6605
          Methemoglobin Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            Methemoglobin Reductase Deficiency 0
paths to the root