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:Erythrocyte Amp Deaminase Deficiency
go back to main search page
Accession:DOID:9006043 term browser browse the term
Synonyms:primary_id: MESH:C567878;   RDO:0015768
 alt_id: OMIM:612874
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: Erythrocyte amp deaminase deficiency
ClinVar
OMIM
PMID:7881427 PMID:8004104 PMID:25158045 PMID:25741868 PMID:28492532 NCBI chr 1:175,585,301...175,630,479
Ensembl chr 1:175,586,097...175,630,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        muscular disease 1167
          Erythrocyte Amp Deaminase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              muscular disease 1167
                Erythrocyte Amp Deaminase Deficiency 1
paths to the root