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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:Transcobalamin I Deficiency
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Accession:DOID:9003283 term browser browse the term
Synonyms:exact_synonym: Cobalamin Pseudodeficiency due to Transcobalamin Deficiency;   Cobalamin R Binder Protein Deficiency;   TCN1 deficiency
 narrow_synonym: R Binder Deficiency with Lactoferrin Deficiency;   Transcobalamin I Deficiency with Lactoferrin Deficiency
 primary_id: MESH:C562798
 alt_id: MIM:193090


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        inherited metabolic disorder 6602
          Transcobalamin I Deficiency 0
Path 2
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        genetic disease 13201
          inherited metabolic disorder 6602
            Transcobalamin I Deficiency 0
paths to the root