Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

inherited organic acidemia

Synonyms

inborn organic acid metabolic process disorder

rare inborn error of organic acid metabolic process

inborn error of organic acid metabolic process

organic acid metabolism disorder

disorder of organic acid metabolism

organic acidemia

organic aciduria

Definitions

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

ID

http://purl.obolibrary.org/obo/MONDO_0000688

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

database_cross_reference

UMLS:C1263739

NCIT:C101334

ICD9:277.89

Orphanet:289899

DOID:0060159

GARD:0009433

exactMatch

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

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

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

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

has broad synonym

organic acid metabolism disorder

disorder of organic acid metabolism

has exact synonym

inborn organic acid metabolic process disorder

rare inborn error of organic acid metabolic process

inborn error of organic acid metabolic process

has related synonym

organic acidemia

organic aciduria

id

MONDO:0000688

imported from

http://purl.obolibrary.org/obo/mondo.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

inherited organic acidemia

notation

MONDO:0000688

prefLabel

inherited organic acidemia

see also

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

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019189

http://purl.obolibrary.org/obo/MONDO_0045022

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

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