FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term adult-onset type II citrullinemia ID (Ontology) DOID:0070342 (Human Disease)
Definition A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
Also Known As "adolescent- or adult-onset citrin deficiency" ; "citrin deficiency" ; "CTLN2"
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 adult-onset type II citrullinemia       1
 for disease ribbon | adult-onset type II citrullinemia       1
 model of | adult-onset type II citrullinemia       1
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  urea cycle disorder
   |__citrullinemia
       |__adult-onset type II citrullinemia  1 rec.
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Synonyms
  • "adolescent- or adult-onset citrin deficiency" EXACT
    "citrin deficiency" EXACT
    "CTLN2" EXACT OMO:0003012
Secondary IDs
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MIM:603471
ORDO:247585