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- B6072499a7c12e32a6b56709225448c19 hasDbXref "Orphanet:52429" @default.
- B6072499a7c12e32a6b56709225448c19 type Axiom @default.
- B6072499a7c12e32a6b56709225448c19 annotatedProperty IAO_0000115 @default.
- B6072499a7c12e32a6b56709225448c19 annotatedSource MONDO_0018878 @default.
- B6072499a7c12e32a6b56709225448c19 annotatedTarget "Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)." @default.