loading...| Preferred Name | inherited organic acidemia | |
| Synonyms |
organic acidemia organic aciduria organic acid metabolism disorder disorder of organic acid metabolism inborn organic acid metabolic process disorder rare inborn error of organic acid metabolic process inborn error of organic acid metabolic process |
|
| 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 | ||
| 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 |
|
| 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 | ||
| 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 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0000688 | CCONT | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | DOVES | SAME_URI |