Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Beddad6f4d9beeae58871f67285e47efc> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Beddad6f4d9beeae58871f67285e47efc hasDbXref "Orphanet:226" @default.
- Beddad6f4d9beeae58871f67285e47efc type Axiom @default.
- Beddad6f4d9beeae58871f67285e47efc annotatedProperty IAO_0000115 @default.
- Beddad6f4d9beeae58871f67285e47efc annotatedSource MONDO_0009862 @default.
- Beddad6f4d9beeae58871f67285e47efc annotatedTarget "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." @default.