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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:neonatal-onset type II citrullinemia
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Accession:DOID:0070341 term browser browse the term
Definition:A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. (DO)
Synonyms:exact_synonym: NICCD;   neonatal citrullinemia;   neonatal citrullinemias;   neonatal intrahepatic cholestasis caused by citrin deficiency;   neonatal-onset citrullinemia type 2;   neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia
 primary_id: MESH:C536398
 alt_id: OMIM:605814
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                neonatal-onset type II citrullinemia 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                urea cycle disorder 44
                  citrullinemia 5
                    Citrullinemia Type 2 2
                      neonatal-onset type II citrullinemia 1
paths to the root