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- Bb8a29ff7e33089f15bd60b48c516b6cb hasDbXref "Orphanet:1770" @default.
- Bb8a29ff7e33089f15bd60b48c516b6cb type Axiom @default.
- Bb8a29ff7e33089f15bd60b48c516b6cb annotatedProperty IAO_0000115 @default.
- Bb8a29ff7e33089f15bd60b48c516b6cb annotatedSource MONDO_0009302 @default.
- Bb8a29ff7e33089f15bd60b48c516b6cb annotatedTarget "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." @default.