JSON

citrullinemia type I

^ http://purl.obolibrary.org/obo/MONDO_0008988

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). [ Orphanet:247525 ]

Term info

database cross reference
  • SCTID:398680004 (MONDO:equivalentTo)
  • MedDRA:10058298 (Orphanet:247525/e)
  • Orphanet:247525 (OMIM:215700)
  • OMIM:215700 (Orphanet:247525/e)
  • NCIT:C150601 (MONDO:equivalentTo)
  • DOID:0070340 (MONDO:equivalentTo)
  • GARD:0006114 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
CTNL1 [ GARD:0006114 ]

abbreviation
CTLN1 [ Orphanet:247525 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985, https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10058298

definition

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).

exactMatch

http://identifiers.org/snomedct/398680004, http://purl.obolibrary.org/obo/Orphanet_247525, https://omim.org/entry/215700, http://purl.obolibrary.org/obo/DOID_0070340, http://purl.obolibrary.org/obo/NCIT_C150601

has broad synonym

citrullinemia

has exact synonym

classic citrullinemia, argininosuccinic acid synthetase deficiency, argininosuccinic acid synthase deficiency, citrullinemia type 1, CTLN1, argininosuccinate synthetase deficiency, argininosuccinate synthase deficiency, citrullinemia type I, ASS deficiency

has related synonym

CTNL1, citrullinemia, type 1, citrullinemia 1, citrullinemia, classic, Citrullinuria

id

MONDO:0008988