Search Ontology:
Human Disease

adult-onset type II citrullinemia

Term ID
DOID:0070342
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
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Genes Involved
Zebrafish Models