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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: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


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 chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G LOC106677018 Mpo proximal enhancer and promoter region ISO ClinVar Annotator: match by term: Myeloperoxidase deficiency ClinVar PMID:25741868 NCBI chr11:87,683,311...87,685,373 JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Myeloperoxidase deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9354683 More... NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        inherited metabolic disorder 5665
          Myeloperoxidase Deficiency 3
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          inherited metabolic disorder 5665
            Myeloperoxidase Deficiency 3
paths to the root