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OMIM:237300 - CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
DOID:9280 - carbamoyl phosphate synthetase I deficiency disease |
MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease |
Human Disease Resources: OMIM
Xenbase Genes: cps1