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RGD uses the Human Disease Ontology (DO, 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:Myeloperoxidase Deficiency
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Accession:DOID:9002575 term browser browse the term
Synonyms:exact_synonym: MPO deficiency;   MPOD
 primary_id: MESH:C562864
 alt_id: OMIA:002028;   OMIM:254600
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Myeloperoxidase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calr calreticulin ISO associated with Myelofibrosis;DNA:missense mutations:cds:multiple (human) RGD PMID:27013444 RGD:11352758 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Myeloperoxidase deficiency OMIM
PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9354683 More... NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        inherited metabolic disorder 4684
          Myeloperoxidase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          inherited metabolic disorder 4684
            Myeloperoxidase Deficiency 2
paths to the root