Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7f0f1847b09bf4ccc941b62d5fec829b> ?p ?o ?g. }
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- B7f0f1847b09bf4ccc941b62d5fec829b hasDbXref "PMID:20301610" @default.
- B7f0f1847b09bf4ccc941b62d5fec829b hasDbXref "https://orcid.org/0000-0002-5655-9589" @default.
- B7f0f1847b09bf4ccc941b62d5fec829b type Axiom @default.
- B7f0f1847b09bf4ccc941b62d5fec829b annotatedProperty IAO_0000115 @default.
- B7f0f1847b09bf4ccc941b62d5fec829b annotatedSource MONDO_0100065 @default.
- B7f0f1847b09bf4ccc941b62d5fec829b annotatedTarget "A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor)." @default.