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- Bc50af8d8c1c920e56758cee8078dc6a9 NCIT_P378 "NCI" @default.
- Bc50af8d8c1c920e56758cee8078dc6a9 type Axiom @default.
- Bc50af8d8c1c920e56758cee8078dc6a9 annotatedProperty IAO_0000115 @default.
- Bc50af8d8c1c920e56758cee8078dc6a9 annotatedSource NCIT_C35528 @default.
- Bc50af8d8c1c920e56758cee8078dc6a9 annotatedTarget "A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations." @default.