Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B653eeffc8fba806ff08963b0045b8ecd> ?p ?o ?g. }
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- B653eeffc8fba806ff08963b0045b8ecd hasDbXref "PMID:33230297" @default.
- B653eeffc8fba806ff08963b0045b8ecd hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- B653eeffc8fba806ff08963b0045b8ecd hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- B653eeffc8fba806ff08963b0045b8ecd type Axiom @default.
- B653eeffc8fba806ff08963b0045b8ecd annotatedProperty IAO_0000115 @default.
- B653eeffc8fba806ff08963b0045b8ecd annotatedSource MONDO_0030362 @default.
- B653eeffc8fba806ff08963b0045b8ecd annotatedTarget "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure." @default.