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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:Adenosine Monophosphate Deaminase Deficiency
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Accession:DOID:9007712 term browser browse the term
Synonyms:primary_id: MESH:C538234


show annotations for term's descendants           Sort by:
Adenosine Monophosphate Deaminase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631143 PMID:10996775 PMID:11102975 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle AMP deaminase deficiency		 OMIM
CTD
ClinVar		 PMID:1631143 PMID:1922051 PMID:8335021 PMID:9536098 PMID:10996775 More... NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8205
      disease of metabolism 8205
        inherited metabolic disorder 6213
          purine-pyrimidine metabolic disorder 203
            Adenosine Monophosphate Deaminase Deficiency 1
              MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        genetic disease 18251
          inherited metabolic disorder 6213
            purine-pyrimidine metabolic disorder 203
              Adenosine Monophosphate Deaminase Deficiency 1
                MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
paths to the root