loading...| Preferred Name | inborn organic aciduria | |
| Synonyms |
inherited organic acidemia disorder of organic acid metabolism organic acid metabolism disorder inborn error of organic acid metabolic process organic aciduria inborn organic acid metabolic process disorder organic acidemia rare 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 |
|
| database_cross_reference |
UMLS:C0241775 icd11.foundation:1921636230 ICD9:277.89 NCIT:C101334 DOID:0060159 Orphanet:289899 MEDGEN:66037 GARD:9433 |
|
| definition |
An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. |
|
| has_broad_synonym |
disorder of organic acid metabolism organic acid metabolism disorder |
|
| has_exact_synonym |
inborn error of organic acid metabolic process organic aciduria inborn organic acid metabolic process disorder organic acidemia rare inborn error of organic acid metabolic process |
|
| has_related_synonym |
inherited organic acidemia |
|
| IAO_0000233 | ||
| id |
MONDO:0000688 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
inborn organic aciduria |
|
| notation |
MONDO:0000688 |
|
| preferred label |
inborn organic aciduria |
|
| prefLabel |
inborn organic aciduria |
|
| see also |
https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia |
|
| skos_exactMatch |
http://identifiers.org/medgen/66037 http://purl.obolibrary.org/obo/DOID_0060159 http://purl.obolibrary.org/obo/Orphanet_289899 http://purl.obolibrary.org/obo/NCIT_C101334 http://linkedlifedata.com/resource/umls/id/C0241775 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1921636230 |
|
| subClassOf | ||
| excluded_subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| 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 | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0000688 | DOVES | LOOM |