argininosuccinic aciduria

created [InstanceEdit:9956459] Rothfels, Karen, 2025-06-12
databaseName DOID
dbId 9956465
definition OMIM mapping confirmed by DO. [SN].
displayName argininosuccinic aciduria
identifier 14755
name
  • argininosuccinic aciduria
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • arginosuccinase deficiency
  • Argininosuccinate lyase deficiency
  • deficiency of argininosuccinate lyase
  • argininosuccinic acidemia
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:14755

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