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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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neonatal-onset type II citrullinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II OMIM
ClinVar		 PMID:9536098 PMID:10369257 PMID:11153906 PMID:11281457 PMID:11343052 More... NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                neonatal-onset type II citrullinemia 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            Metabolic Brain Diseases 853
              Metabolic Brain Diseases, Inborn 743
                urea cycle disorder 58
                  citrullinemia 11
                    Citrullinemia Type 2 2
                      neonatal-onset type II citrullinemia 1
paths to the root