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inborn organic aciduria

^ 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 ]

Term info

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

gard_rare, disease_grouping, ordo_group_of_disorders

IAO 0000233

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

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://purl.obolibrary.org/obo/Orphanet_289899, http://linkedlifedata.com/resource/umls/id/C1263739, http://purl.obolibrary.org/obo/NCIT_C101334

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019052

has broad synonym

organic acid metabolism disorder, disorder of organic acid metabolism

has exact synonym

inborn organic acid metabolic process disorder, organic acidemia, inborn error of organic acid metabolic process, rare inborn error of organic acid metabolic process, organic aciduria

has related synonym

inherited organic acidemia

id

MONDO:0000688

seeAlso

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

Term relations