Terminology Service for NFDI4Health
Citrullinemia
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http://purl.obolibrary.org/obo/NCIT_C84639
A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood. [ ]
Term info
Label
Citrullinemia
Synonyms
- Citrullinemia
Subsets
NCIT_C99147, NCIT_C90259
Contributing Source
NICHD
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C84785
NICHD Hierarchy Term
Citrullinemia
Preferred Name
Citrullinemia
Semantic Type
Disease or Syndrome
UMLS CUI
C3844613
code
C84639