Search Ontology:
Human Disease

ornithine carbamoyltransferase deficiency

Term ID
DOID:9271
Synonyms
  • deficiency of citrulline phosphorylase
  • ornithine transcarbamylase deficiency
Definition
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency
References
  • GARD:8391
  • ICD10CM:E72.4
  • MESH:D020163
  • MIM:311250
  • NCI:C84957
  • SNOMEDCT_US_2023_03_01:80908008
  • UMLS_CUI:C0268542
(all 7)
Ontology
Human Disease   ( DOID:9271 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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