JSON

hyperargininemia

^ http://purl.obolibrary.org/obo/MONDO_0008814

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. [ Orphanet:90 ]

Term info

database cross reference
  • MESH:D020162 (Orphanet:90/e)
  • Orphanet:90 (OMIM:207800)
  • OMIM:207800 (Orphanet:90/e)
  • MedDRA:10062695 (Orphanet:90/e)
  • UMLS:C0268548 (Orphanet:90/e)
  • NCIT:C84568 (MONDO:equivalentTo)
  • DOID:9278 (MONDO:equivalentTo)
  • SCTID:23501004 (MONDO:equivalentTo)
  • GARD:0005840 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10062695

definition

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

exactMatch

http://identifiers.org/mesh/D020162, http://identifiers.org/snomedct/23501004, http://linkedlifedata.com/resource/umls/id/C0268548, http://purl.obolibrary.org/obo/Orphanet_90, https://omim.org/entry/207800, http://purl.obolibrary.org/obo/NCIT_C84568, http://purl.obolibrary.org/obo/DOID_9278

has exact synonym

deficiency of canavanase, hyperargininemia, argininemia, arginase deficiency

has related synonym

Arg1 deficiency

id

MONDO:0008814