ONTOLOGY REPORT - ANNOTATIONS


Term:dicarboxylic aminoaciduria
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Accession:DOID:0060650 term browser browse the term
Synonyms:exact_synonym: DCBXA;   Dicarboxylic amino aciduria;   Dicarboxylicamino Aciduria;   Glutamate and aspartate transport defect;   Glutamate-Aspartate Transport Defect;   Inborn error of glutamic and aspartate transport;   dicarboxylicaminoaciduria
 primary_id: MESH:C536171;   RDO:0001641
 alt_id: OMIM:222730
 xref: GARD:1855;   ORDO:2195
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dicarboxylic aminoaciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:7240710
RGD:8554872
G Spata6l spermatogenesis associated 6-like JBrowse link 1 247,037,004 247,088,124 RGD:8554872

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  disease 14875
    Developmental Diseases 7711
      Neurodevelopmental Disorders 2756
        intellectual disability 1158
          dicarboxylic aminoaciduria 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    dicarboxylic aminoaciduria 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.