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RGD uses the Human Disease Ontology (DO, 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:dicarboxylic aminoaciduria
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Accession:DOID:0060650 term browser browse the term
Definition:An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)
Synonyms:exact_synonym: DCBXA;   Dicarboxylic amino aciduria;   Dicarboxylicamino Aciduria;   Glutamate and aspartate transport defect;   dicarboxylicaminoaciduria;   glutamate-aspartate transport defect;   inborn error of glutamic and aspartate transport
 primary_id: MESH:C536171
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria OMIM
PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Neurodevelopmental Disorders 6103
        intellectual disability 3878
          dicarboxylic aminoaciduria 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    dicarboxylic aminoaciduria 1
paths to the root