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- Babf74a6fe80ed1cb2079af2153057c3e hasDbXref "PMID:33230297" @default.
- Babf74a6fe80ed1cb2079af2153057c3e hasDbXref "https://orcid.org/0000-0002-7371-8158" @default.
- Babf74a6fe80ed1cb2079af2153057c3e hasDbXref "https://orcid.org/0000-0003-0113-912X" @default.
- Babf74a6fe80ed1cb2079af2153057c3e type Axiom @default.
- Babf74a6fe80ed1cb2079af2153057c3e annotatedProperty IAO_0000115 @default.
- Babf74a6fe80ed1cb2079af2153057c3e annotatedSource MONDO_0030362 @default.
- Babf74a6fe80ed1cb2079af2153057c3e 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.