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- Bb2aba99e315e31f7f41471ebbeae8f0a hasDbXref "Orphanet:99330" @default.
- Bb2aba99e315e31f7f41471ebbeae8f0a type Axiom @default.
- Bb2aba99e315e31f7f41471ebbeae8f0a annotatedProperty IAO_0000115 @default.
- Bb2aba99e315e31f7f41471ebbeae8f0a annotatedSource MONDO_0020470 @default.
- Bb2aba99e315e31f7f41471ebbeae8f0a 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.