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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: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
ClinVar Annotator: match by term: Dicarboxylicaminoaciduria
OMIM
ClinVar
PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria ClinVar PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,630,470...226,682,979
Ensembl chr 1:226,641,518...226,682,884
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Neurodevelopmental Disorders 5712
        intellectual disability 3473
          dicarboxylic aminoaciduria 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            disease of mental health 7060
              developmental disorder of mental health 4403
                specific developmental disorder 3662
                  intellectual disability 3473
                    dicarboxylic aminoaciduria 2
paths to the root