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- B802a1f6b101a81dfe9263ac0be53ab90 hasDbXref "Orphanet:2983" @default.
- B802a1f6b101a81dfe9263ac0be53ab90 type Axiom @default.
- B802a1f6b101a81dfe9263ac0be53ab90 annotatedProperty IAO_0000115 @default.
- B802a1f6b101a81dfe9263ac0be53ab90 annotatedSource MONDO_0010824 @default.
- B802a1f6b101a81dfe9263ac0be53ab90 annotatedTarget "A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994." @default.