Id http://purl.bioontology.org/ontology/CSP/1849-0778
http://purl.bioontology.org/ontology/CSP/1849-0778
Preferred Name

histidinemia

Definitions
autosomal recessive aminoacidopathy due to deficiency of histidine ammonia-lyase; characterized by accumulation of histidine in serum and urinary excretion of histidine and metabolites, but is usually benign; may cause mild central nervous system dysfunction.
Type http://www.w3.org/2002/07/owl#Class
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