Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfcb52c44140e8ce34d04df27d6d3cd9e> ?p ?o ?g. }
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- Bfcb52c44140e8ce34d04df27d6d3cd9e hasDbXref "Orphanet:2031" @default.
- Bfcb52c44140e8ce34d04df27d6d3cd9e hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bfcb52c44140e8ce34d04df27d6d3cd9e type Axiom @default.
- Bfcb52c44140e8ce34d04df27d6d3cd9e annotatedProperty IAO_0000115 @default.
- Bfcb52c44140e8ce34d04df27d6d3cd9e annotatedSource MONDO_0008941 @default.
- Bfcb52c44140e8ce34d04df27d6d3cd9e annotatedTarget "A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987." @default.