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Health and Social Person-centric Ontology
| Preferred Name | inborn disorder of branched-chain amino acid metabolism | |
| Synonyms |
branched chain amino acid metabolism disorder disorder of branched chain amino acid metabolism rare inborn error of branched-chain amino acid metabolic process inborn disorder of branched-chain amino acid metabolism inborn branched-chain amino acid metabolic process disorder inborn error of branched-chain amino acid metabolic process disorder of branched-chain amino acid metabolism |
|
| Definitions |
An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. Editor note: consider parent for non-inborn form |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019242 |
|
| comment |
Editor note: consider parent for non-inborn form
|
|
| database_cross_reference |
UMLS:C0342712 SCTID:116020001 Orphanet:79197 GARD:18971
|
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.
|
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0342712 |
|
| has_exact_synonym |
rare inborn error of branched-chain amino acid metabolic process inborn disorder of branched-chain amino acid metabolism inborn branched-chain amino acid metabolic process disorder inborn error of branched-chain amino acid metabolic process disorder of branched-chain amino acid metabolism
|
|
| has_related_synonym |
branched chain amino acid metabolism disorder disorder of branched chain amino acid metabolism
|
|
| IAO_0000233 | ||
| id |
MONDO:0019242
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare 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 disorder of branched-chain amino acid metabolism
|
|
| notation |
MONDO:0019242
|
|
| preferred label |
inborn disorder of branched-chain amino acid metabolism
|
|
| prefLabel |
inborn disorder of branched-chain amino acid metabolism
|
|
| excluded_subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019189 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |