Send us a Message



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:AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
paths to the root