Disease | urea cycle disorder |
Phenotype | C0175683|argininosuccinate synthetase deficiency |
Sentences | 1 |
PubMedID- 24765495 | Citrullinemia type i (ctln1 or citrullinemia, classic; omim 215700) is an autosomal recessive urea cycle disorder that results from argininosuccinate synthetase deficiency. |
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