Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

inborn organic aciduria

Synonyms

inborn organic acid metabolic process disorder

rare inborn error of organic acid metabolic process

organic acidemia

inborn error of organic acid metabolic process

organic aciduria

organic acid metabolism disorder

disorder of organic acid metabolism

inherited organic acidemia

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

database_cross_reference

NCIT:C101334

ICD9:277.89

icd11.foundation:1921636230

GARD:9433

Orphanet:289899

DOID:0060159

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://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

rare inborn error of organic acid metabolic process

organic acidemia

inborn error of organic acid metabolic process

organic aciduria

has_related_synonym

inherited organic acidemia

IAO_0000233

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

id

MONDO:0000688

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

inborn organic aciduria

notation

MONDO:0000688

prefLabel

inborn organic aciduria

seeAlso

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

treeView

http://purl.obolibrary.org/obo/MONDO_0004736

excluded subClassOf

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004736

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