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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:AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
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Accession:DOID:9005133 term browser browse the term
Synonyms:exact_synonym: AICA Ribosuria due to ATIC Deficiency;   AICAR transformylase/IMP cyclohydrolase deficiency;   ATIC deficiency
 primary_id: MESH:C563876
 alt_id: OMIM:608688
For additional species annotation, visit the Alliance of Genome Resources.


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AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AICAR transformylase/IMP cyclohydrolase deficiency
ClinVar
CTD
OMIM
PMID:15114530 PMID:25741868 PMID:32557644 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
paths to the root