OBO ID: DOID:0070342
Term Name: adult-onset type II citrullinemia Search Ontology:
Synonyms:
  • citrin deficiency
Definition: A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. https://www.omim.org/entry/603471?search=603471
References:
Ontology: Human Disease   ( DOID:0070342 )
Relationships
is a type of:
OTHER adult-onset type II citrullinemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC25A13 Citrullinemia, adult-onset type II 603471
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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