Terminology Service for NFDI4Health
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Urea Cycle Metabolism Disorder

Go to external page http://purl.obolibrary.org/obo/NCIT_C84785

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. [ ]

Term info

Label

Urea Cycle Metabolism Disorder

Synonyms
  • Disorder of Urea Cycle Metabolism
  • Inborn Urea Cycle Disorder
  • Urea Cycle Metabolism Disorder
Subsets

NCIT_C99147, NCIT_C90259

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C34816

NICHD Hierarchy Term

Urea Cycle Metabolism Disorder

Preferred Name

Urea Cycle Metabolism Disorder

Semantic Type

Disease or Syndrome

UMLS CUI

C0154246

code

C84785