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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
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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 ClinVar Annotator: match by term: Muscle AMP deaminase deficiency ClinVar
OMIM
PMID:1631143 PMID:8335021 PMID:10996775 PMID:11102975 PMID:12117480 PMID:15173240 PMID:21343608 PMID:25155876 PMID:25741868 PMID:27296017 PMID:28492532 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        inherited metabolic disorder 2234
          purine-pyrimidine metabolic disorder 35
            Adenosine Monophosphate Deaminase Deficiency 1
              MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            purine-pyrimidine metabolic disorder 35
              Adenosine Monophosphate Deaminase Deficiency 1
                MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 1
paths to the root