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DO Term : carbamoyl phosphate synthetase I deficiency disease [DOID:9280] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A urea cycle disorder that involves accumulation of ammonia in the blood.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:765329008,
  • OMIM:237300,
  • UMLS_CUI:C0751753,
  • GARD:7269,
  • CPS I deficiency,
  • NCI:C84612,
  • 237300,
  • MESH:D020165
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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