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- B9a28b72c76d65695acacfeb151ac61e9 hasDbXref "Orphanet:564" @default.
- B9a28b72c76d65695acacfeb151ac61e9 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B9a28b72c76d65695acacfeb151ac61e9 type Axiom @default.
- B9a28b72c76d65695acacfeb151ac61e9 annotatedProperty IAO_0000115 @default.
- B9a28b72c76d65695acacfeb151ac61e9 annotatedSource MONDO_0018921 @default.
- B9a28b72c76d65695acacfeb151ac61e9 annotatedTarget "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia." @default.