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histidinemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0009345

Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. [ Orphanet:2157 ]

Synonyms: histidinuria histidine ammonia-lyase deficiency Histidinuria hyperhistidinemia histidase deficiency Hal deficiency HIS deficiency histidinemia

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:261052955 (https://orcid.org/0000-0002-4142-7153)
  • UMLS:C0220992 (MONDO:equivalentTo)
  • DOID:0060168 (MONDO:equivalentTo)
  • MESH:C538320 (Orphanet:2157/e)
  • OMIM:235800 (Orphanet:2157/e)
  • NORD:1245 (MONDO:NORD)
  • GARD:6661 (MONDO:GARD)
  • ICD10CM:E70.41 (MONDO:equivalentTo)
  • SCTID:410058007 (MONDO:equivalentTo)
  • MEDGEN:113135 (MONDO:equivalentTo)
  • Orphanet:2157 (OMIM:235800)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, clingen, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, orphanet_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mostly_harmless, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, icd10_billable, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease

ClinGen label
histidinemia [ ICD10CM:E70.41 DOID:0060168 https://omim.org/entry/235800 Orphanet:2157 ]

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0009345

exactMatch

https://omim.org/entry/235800

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/261052955

http://purl.obolibrary.org/obo/DOID_0060168

http://purl.bioontology.org/ontology/ICD10CM/E70.41

http://identifiers.org/medgen/113135

http://linkedlifedata.com/resource/umls/id/C0220992

http://identifiers.org/snomedct/410058007

http://identifiers.org/mesh/C538320

http://www.orpha.net/ORDO/Orphanet_2157

id

MONDO:0009345

seeAlso

https://rarediseases.info.nih.gov/diseases/6661/histidinemia

term tracker item

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

https://github.com/monarch-initiative/mondo/issues/4521