FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ornithine carbamoyltransferase deficiency ID (Ontology) DOID:9271 (Human Disease)
Definition An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
Also Known As "deficiency of citrulline phosphorylase" ; "ornithine transcarbamylase deficiency"
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  amino acid metabolic disorder
   |__urea cycle disorder
       |__ornithine carbamoyltransferase deficiency
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Is a urea cycle disorder
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Synonyms
  • "deficiency of citrulline phosphorylase" EXACT
    "ornithine transcarbamylase deficiency" EXACT
Secondary IDs
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GARD:8391
ICD10CM:E72.4
MESH:D020163
MIM:311250
NCI:C84957
SNOMEDCT_US_2023_03_01:80908008
UMLS_CUI:C0268542