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- B2d6fea1f04c75d1cb1b7d9226cc8a28e NCIT_P378 "NICHD" @default.
- B2d6fea1f04c75d1cb1b7d9226cc8a28e type Axiom @default.
- B2d6fea1f04c75d1cb1b7d9226cc8a28e annotatedProperty NCIT_P325 @default.
- B2d6fea1f04c75d1cb1b7d9226cc8a28e annotatedSource NCIT_C84820 @default.
- B2d6fea1f04c75d1cb1b7d9226cc8a28e annotatedTarget "A genetic syndrome caused by mutation(s) in the PTPN11, RAF1, or the BRAF genes, encoding tyrosine-protein phosphatase non-receptor type 11 and RAF proto-oncogene serine/threonine-protein kinase, and serine/threonine-protein kinase B-raf, respectively. Affected male individuals may exhibit unilateral or bilateral cryptorchidism, small penis, and/or hypospadias (urinary meatus on the dorsal side of the penis). Affected female individuals may have ovarian hypoplasia or agenesis. Primary hypogonadism in both female and male individuals may result in delayed puberty." @default.