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	Field	Query

	Field	Query
	Disease
	Symptom

Carbamoyl phosphate synthetase deficiency

Symptom Information:

Symptom ID:

MedDRA:10058297

Synonyms:

Quality:

Cross references:

Is a (Direct Parents):

MedDRA

Abnormality of amino acid metabolism

Is a (Whole tree):

HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Carbamoyl phosphate synthetase deficiency(MedDRA:10058297)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
             Carbamoyl phosphate synthetase deficiency(MedDRA:10058297)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Carbamoyl phosphate synthetase deficiency(MedDRA:10058297)

Database Frequency:

1 / 7739

Resource:

All diseases associated with this symptom:

Carbamoylphosphate synthetase deficiency

(Orphanet:147)

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