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histidinemia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.
Uniprot Description Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.
Disease Ontology Description A histidine metabolism disease characterized by a deficiency of the enzyme histidase.
Mondo Term and Equivalent IDs
MONDO:0009345:  histidinemia
GARD:0006661: 
ICD10:E70.41: 
MESH:C538320: 
Orphanet:2157: 
SCTID:410058007: 
UMLS:C0220992: