inborn disorder of histidine metabolism
Go to external page http://purl.obolibrary.org/obo/MONDO_0019228
An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process. [ MONDO:patterns/inborn_metabolic ]
Synonyms: inborn disorder of histidine metabolism histidine metabolic process disease disorder of histidine metabolic process histidine metabolism disease disorder of histidine metabolism rare inborn error of histidine metabolic process inborn error of histidine metabolism inborn error of histidine metabolic process inborn histidine metabolic process disorder disturbance of histidine metabolism
Term information
- ICD9:270.5 (DOID:9265)
- MEDGEN:541342 (MONDO:equivalentTo)
- UMLS:C0268512 (MONDO:equivalentTo)
- SCTID:44176004 (MONDO:equivalentTo)
- GARD:18959 (MONDO:GARD)
- Orphanet:79181 (MONDO:equivalentTo)
- ICD10CM:E70.40 (MONDO:equivalentTo)
- icd11.foundation:543162269 (https://orcid.org/0000-0001-5208-3432)
- DOID:9265 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/4985
https://github.com/monarch-initiative/mondo/issues/5364
http://identifiers.org/medgen/541342
http://linkedlifedata.com/resource/umls/id/C0268512
http://identifiers.org/snomedct/44176004
http://www.orpha.net/ORDO/Orphanet_79181
http://purl.bioontology.org/ontology/ICD10CM/E70.40
http://purl.obolibrary.org/obo/DOID_9265