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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:Erythrocyte Amp Deaminase Deficiency
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Accession:DOID:9006043 term browser browse the term
Synonyms:primary_id: MESH:C567878;   RDO:0015768
 alt_id: OMIM:612874

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Erythrocyte Amp Deaminase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd3 adenosine monophosphate deaminase 3 ISO ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency OMIM
ClinVar		 PMID:7881427 PMID:8004104 PMID:25158045 PMID:25741868 PMID:28492532 NCBI chrNW_004936528:7,847,156...7,891,585
Ensembl chrNW_004936528:7,848,096...7,890,627 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        muscular disease 2042
          Erythrocyte Amp Deaminase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        peripheral nervous system disease 3883
          neuropathy 3701
            neuromuscular disease 2898
              muscular disease 2042
                Erythrocyte Amp Deaminase Deficiency 1
paths to the root