ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0013019
 alt_id: OMIM:608688;   RDO:0009231
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AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:8554872
RGD:11554173
RGD:7240710

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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 1
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