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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: OMIM:193090
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Nutritional and Metabolic Diseases 8322
      disease of metabolism 8322
        inherited metabolic disorder 6273
          Transcobalamin I Deficiency 0
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        genetic disease 17979
          inherited metabolic disorder 6273
            Transcobalamin I Deficiency 0
paths to the root