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- Bb6f14e2182405a872ca5dc4524055ee2 hasDbXref "Orphanet:1787" @default.
- Bb6f14e2182405a872ca5dc4524055ee2 type Axiom @default.
- Bb6f14e2182405a872ca5dc4524055ee2 annotatedProperty IAO_0000115 @default.
- Bb6f14e2182405a872ca5dc4524055ee2 annotatedSource MONDO_0011154 @default.
- Bb6f14e2182405a872ca5dc4524055ee2 annotatedTarget "Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997." @default.