Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B2ac64b2e42abc21513cf0ce5536921c8> ?p ?o ?g. }
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- B2ac64b2e42abc21513cf0ce5536921c8 hasDbXref "Orphanet:564" @default.
- B2ac64b2e42abc21513cf0ce5536921c8 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B2ac64b2e42abc21513cf0ce5536921c8 type Axiom @default.
- B2ac64b2e42abc21513cf0ce5536921c8 annotatedProperty IAO_0000115 @default.
- B2ac64b2e42abc21513cf0ce5536921c8 annotatedSource MONDO_0018921 @default.
- B2ac64b2e42abc21513cf0ce5536921c8 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.