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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 characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: CDNI;   NICCD;   neonatal citrullinemia;   neonatal citrullinemias;   neonatal intrahepatic cholestasis caused by citrin deficiency;   neonatal- or infantile-onset citrin deficiency;   neonatal-onset citrullinemia type 2;   neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia
 broad_synonym: SLC25A13-related condition
 xref: MESH:C536398;   MIM:605814;   MONDO:0011601


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: SLC25A13-related condition 		OMIM
CTD
ClinVar		 PMID:855835 PMID:8105687 PMID:9536098 PMID:10369257 PMID:11153906 More... NCBI chr 4:35,145,721...35,328,403
Ensembl chr 4:35,145,721...35,328,360 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                neonatal-onset type II citrullinemia 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                urea cycle disorder 83
                  citrullinemia 10
                    Citrullinemia Type 2 3
                      neonatal-onset type II citrullinemia 1
paths to the root