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- B3ae9877f1ccd383c51ae454cb50f4dda hasDbXref "OMIM:617384" @default.
- B3ae9877f1ccd383c51ae454cb50f4dda type Axiom @default.
- B3ae9877f1ccd383c51ae454cb50f4dda annotatedProperty IAO_0000115 @default.
- B3ae9877f1ccd383c51ae454cb50f4dda annotatedSource MONDO_0044304 @default.
- B3ae9877f1ccd383c51ae454cb50f4dda annotatedTarget "Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})." @default.