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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 OMIM:605814
ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency
OMIM
ClinVar
PMID:10369257, PMID:11153906, PMID:11281457, PMID:11343052, PMID:11343053, PMID:11793471, PMID:12424587, PMID:12512993, PMID:14680984, PMID:15050970, PMID:16059747, PMID:16449956, PMID:17880783, PMID:18392553, PMID:19036621, PMID:19470249, PMID:20301360, PMID:20927635, PMID:21134364, PMID:21424115, PMID:21507300, PMID:22710133, PMID:23022256, PMID:23053473, PMID:23067347, PMID:23430852, PMID:24069319, PMID:24161253, PMID:24327139, PMID:24586645, PMID:25365849, PMID:25741868, PMID:26852511, PMID:27347070, PMID:27405544, PMID:27577219, PMID:27578510, PMID:28492532, PMID:29651749, PMID:29659898 NCBI chr 4:31,134,165...31,757,006
Ensembl chr 4:31,608,269...31,730,386
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                neonatal-onset type II citrullinemia 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                urea cycle disorder 44
                  citrullinemia 4
                    Citrullinemia Type 2 2
                      neonatal-onset type II citrullinemia 1
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.