Terminology Service for NFDI4Health
JSON

Citrullinemia Type I

Go to external page http://purl.obolibrary.org/obo/NCIT_C150601

An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the ASS1 gene, encoding argininosuccinate synthetase. [ ]

Term info

Label

Citrullinemia Type I

Synonyms
  • Argininosuccinate Synthetase Deficiency
  • CTLN1
  • Citrullinemia Type I
Subsets

NCIT_C118168, NCIT_C116977

Display Name

Citrullinemia Type I

NCI META CUI

CL552528

Preferred Name

Citrullinemia Type I

Semantic Type

Disease or Syndrome

code

C150601

Term relations