FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term carbamoyl phosphate synthetase I deficiency disease ID (Ontology) DOID:9280 (Human Disease)
Definition A urea cycle disorder that involves accumulation of ammonia in the blood.
Also Known As "CPS I deficiency"
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DO.org
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 Genes
 carbamoyl phosphate synthetase I deficiency disease       1
 for disease ribbon | carbamoyl phosphate synthetase I deficiency disease       1
 model of | carbamoyl phosphate synthetase I deficiency disease       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
amino acid metabolic disorder    |
 |__urea cycle disorder__________|
                                 carbamoyl phosphate synthetase I deficiency disease  1 rec.
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Is a autosomal recessive disease
urea cycle disorder
Part of
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Synonyms
  • "CPS I deficiency" EXACT
Secondary IDs
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GARD:7269
MESH:D020165
MIM:237300
NCI:C84612
SNOMEDCT_US_2023_03_01:765329008
UMLS_CUI:C0751753