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- B268ff0ef0d3ef01b98a85a6c256b8de8 hasDbXref "Orphanet:99330" @default.
- B268ff0ef0d3ef01b98a85a6c256b8de8 type Axiom @default.
- B268ff0ef0d3ef01b98a85a6c256b8de8 annotatedProperty IAO_0000115 @default.
- B268ff0ef0d3ef01b98a85a6c256b8de8 annotatedSource MONDO_0020470 @default.
- B268ff0ef0d3ef01b98a85a6c256b8de8 annotatedTarget "49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults." @default.