Version: 8.0.0
Date: Tue Jan 28 2025
adult-onset type II citrullinemia
DOID:0070342
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

adult-onset type II citrullinemia

Definition
A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
Synonyms
  • citrin deficiency
Cross References
Parent Terms
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None
Sources of Associations

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