JSON

histidinemia

^ 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 ]

Term info

database cross reference
  • OMIM:235800 (Orphanet:2157/e)
  • Orphanet:2157 (OMIM:235800)
  • UMLS:C0220992 (Orphanet:2157/e)
  • GARD:0006661 (MONDO:equivalentTo)
  • ICD10CM:E70.41 (MONDO:equivalentTo)
  • MESH:C538320 (Orphanet:2157/e)
  • SCTID:410058007 (MONDO:equivalentTo)
  • DOID:0060168 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, mostly_harmless

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985, https://github.com/monarch-initiative/mondo/issues/4521

definition

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

exactMatch

https://omim.org/entry/235800, http://purl.obolibrary.org/obo/Orphanet_2157, http://purl.obolibrary.org/obo/DOID_0060168, http://purl.bioontology.org/ontology/ICD10CM/E70.41, http://linkedlifedata.com/resource/umls/id/C0220992, http://identifiers.org/mesh/C538320, http://identifiers.org/snomedct/410058007

has exact synonym

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

id

MONDO:0009345

seeAlso

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

Term relations