JSON

inborn disorder of histidine metabolism

^ 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 ]

Term info

database cross reference
  • DOID:9265 (MONDO:equivalentTo)
  • UMLS:C0268512 (Orphanet:79181/e)
  • Orphanet:79181 (MONDO:equivalentTo)
  • ICD10CM:E70.40 (MONDO:equivalentTo)
  • ICD9:270.5 (DOID:9265)
  • SCTID:44176004 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985, https://github.com/monarch-initiative/mondo/issues/5364

definition

An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_79181, http://linkedlifedata.com/resource/umls/id/C0268512, http://identifiers.org/snomedct/44176004, http://purl.bioontology.org/ontology/ICD10CM/E70.40, http://purl.obolibrary.org/obo/DOID_9265

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019189

has exact synonym

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 metabolic process, inborn error of histidine metabolism, inborn histidine metabolic process disorder, disturbance of histidine metabolism

id

MONDO:0019228