- Hypertyrosinemia (HP:0003231): An increased concentration of tyrosine in the blood. Evidence: IEA. (OMIM:276800)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:276800)
These phenotypes are associated with the disease Tyrosinosis (OMIM:276800).