JSON

inherited organic acidemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0000688

An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. [ NCIT:C101334 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:277.89 (i2s)
  • Orphanet:289899 (MONDO:equivalentTo)
  • NCIT:C101334 (MONDO:equivalentTo)
  • DOID:0060159 (MONDO:equivalentTo)
  • GARD:0009433 (MONDO:equivalentTo)
  • UMLS:C1263739 (NCIT:C101334)
Subsets

gard_rare, ordo_group_of_disorders

closeMatch

http://linkedlifedata.com/resource/umls/id/C1829844

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

definition

An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060159

http://www.orpha.net/ORDO/Orphanet_289899

http://linkedlifedata.com/resource/umls/id/C1263739

http://purl.obolibrary.org/obo/NCIT_C101334

has broad synonym

organic acid metabolism disorder

disorder of organic acid metabolism

has exact synonym

inborn organic acid metabolic process disorder

inborn error of organic acid metabolic process

rare inborn error of organic acid metabolic process

has related synonym

organic acidemia

organic aciduria

id

MONDO:0000688

seeAlso

https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia