FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term citrullinemia ID (Ontology) DOID:9273 (Human Disease)
Definition An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
Also Known As "ASS deficiency" ; "deficiency of citrulline-aspartate ligase"
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  amino acid metabolic disorder
   |__urea cycle disorder
       |__citrullinemia  3 rec.
           |__adult-onset type II citrullinemia 1 rec.
           |__classic citrullinemia 1 rec.
           |__neonatal-onset type II citrullinemia 2 rec.
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Is a urea cycle disorder
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Synonyms
  • "ASS deficiency" EXACT
    "deficiency of citrulline-aspartate ligase" EXACT
Secondary IDs
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ICD10CM:E72.23
MESH:D020159
NCI:C84639
ORDO:187
SNOMEDCT_US_2023_03_01:15489004
UMLS_CUI:C0175683