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Experimental Factor Ontology
| Preferred Name | inborn disorder of histidine metabolism | |
| Synonyms |
disturbance of histidine metabolism inborn error of histidine metabolic process histidine metabolic process disease inborn histidine metabolic process disorder rare inborn error of histidine metabolic process disorder of histidine metabolism inborn error of histidine metabolism histidine metabolism disease disorder of histidine metabolic process inborn disorder of histidine metabolism |
|
| Definitions |
An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019228 |
|
| database_cross_reference |
icd11.foundation:543162269 ICD10CM:E70.40 UMLS:C0268512 SCTID:44176004 MEDGEN:541342 Orphanet:79181 DOID:9265 GARD:18959 ICD9:270.5
|
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.
|
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_9265 http://purl.bioontology.org/ontology/ICD10CM/E70.40 http://linkedlifedata.com/resource/umls/id/C0268512 http://www.orpha.net/ORDO/Orphanet_79181 http://identifiers.org/medgen/541342 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/543162269 |
|
| has_exact_synonym |
disturbance of histidine metabolism inborn error of histidine metabolic process histidine metabolic process disease inborn histidine metabolic process disorder rare inborn error of histidine metabolic process disorder of histidine metabolism inborn error of histidine metabolism histidine metabolism disease disorder of histidine metabolic process inborn disorder of histidine metabolism
|
|
| IAO_0000233 | ||
| id |
MONDO:0019228
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#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 histidine metabolism
|
|
| notation |
MONDO:0019228
|
|
| preferred label |
inborn disorder of histidine metabolism
|
|
| prefLabel |
inborn disorder of histidine metabolism
|
|
| excluded_subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019189 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019228 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019228 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019228 | DOVES | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019228 | OBA | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019228 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019228 | MONDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019228 | DOVES | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019228 | OBA | LOOM |