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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 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
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 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        intellectual disability 2166
          dicarboxylic aminoaciduria 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    dicarboxylic aminoaciduria 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.