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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          dicarboxylic aminoaciduria 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    dicarboxylic aminoaciduria 2
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