Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Myeloperoxidase Deficiency
go back to main search page
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
JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by OMIM:254600
ClinVar Annotator: match by term: Myeloperoxidase deficiency
OMIM
ClinVar
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 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          Myeloperoxidase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            Myeloperoxidase Deficiency 2
paths to the root