Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Genes: PAH (Hsa)

phenylketonuria

Disease
Source: DOID:9281
Definition: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
Genes: PAH (Hsa)

intellectual disability

Disease
Source: DOID:1059
Definition: A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
Genes: PAH (Hsa)