| Metadata | |
|---|---|
| ID | DOID:0070342 |
| Name | 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. https://www.omim.org/entry/603471?search=603471 |
| Xrefs | |
| Synonyms |
citrin deficiency [EXACT] |
| Parent Relationships |
is_a citrullinemia |