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

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:44176004 (MONDO:equivalentTo)
  • ICD9:270.5 (DOID:9265)
  • DOID:9265 (MONDO:equivalentTo)
  • Orphanet:79181 (MONDO:equivalentTo)
  • ICD10CM:E70.40 (MONDO:equivalentTo)
  • MEDGEN:541342 (MONDO:equivalentTo)
  • UMLS:C0268512 (MONDO:equivalentTo)
  • icd11.foundation:543162269 (https://orcid.org/0000-0001-5208-3432)
  • GARD:18959 (MONDO:GARD)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, disease_grouping, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_included, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, icd10_billable, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_metabolic_disease

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

exactMatch

http://identifiers.org/medgen/541342

http://linkedlifedata.com/resource/umls/id/C0268512

http://identifiers.org/snomedct/44176004

http://purl.bioontology.org/ontology/ICD10CM/E70.40

http://www.orpha.net/ORDO/Orphanet_79181

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/543162269

http://purl.obolibrary.org/obo/DOID_9265

excluded subClassOf

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

id

MONDO:0019228

term tracker item

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

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