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- Bb2da6065f57d0d2f0412740bb82bb21b hasDbXref "Orphanet:2554" @default.
- Bb2da6065f57d0d2f0412740bb82bb21b type Axiom @default.
- Bb2da6065f57d0d2f0412740bb82bb21b annotatedProperty IAO_0000115 @default.
- Bb2da6065f57d0d2f0412740bb82bb21b annotatedSource MONDO_0016817 @default.
- Bb2da6065f57d0d2f0412740bb82bb21b annotatedTarget "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)." @default.