Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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;   AICA-ribosiduria due to ATIC deficiency;   AICAR transformylase/IMP cyclohydrolase deficiency;   ATIC deficiency;   ATIC-RELATED CONDITION
 primary_id: MESH:C563876
 alt_id: MIM:608688


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AICA-ribosiduria due to ATIC deficiency | ClinVar Annotator: match by term: ATIC DEFICIENCY | ClinVar Annotator: match by term: ATIC-related condition		 CTD
OMIM
ClinVar		 PMID:15114530 PMID:25741868 PMID:28492532 PMID:28991257 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 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        Congenital Abnormalities 7883
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            disease of mental health 8440
              developmental disorder of mental health 5641
                specific developmental disorder 4605
                  intellectual disability 4377
                    AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
paths to the root