FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neonatal-onset type II citrullinemia ID (Ontology) DOID:0070341 (Human Disease)
Definition A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
Also Known As "neonatal or infantile-onset citrin deficiency" ; "neonatal-onset type 2 citrullinemia"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 neonatal-onset type II citrullinemia       1      1
 for disease ribbon | neonatal-onset type II citrullinemia       --       1
 model of | neonatal-onset type II citrullinemia       1      1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
urea cycle disorder              |
 |__citrullinemia________________|
                                 neonatal-onset type II citrullinemia  2 rec.
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Is a autosomal recessive disease
citrullinemia
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Synonyms
  • "neonatal or infantile-onset citrin deficiency" EXACT
    "neonatal-onset type 2 citrullinemia" EXACT
Secondary IDs
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MIM:605814