Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba1fb6df2251f4da1d9502f056e417db3> ?p ?o ?g. }
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- Ba1fb6df2251f4da1d9502f056e417db3 hasDbXref "Orphanet:2962" @default.
- Ba1fb6df2251f4da1d9502f056e417db3 type Axiom @default.
- Ba1fb6df2251f4da1d9502f056e417db3 annotatedProperty IAO_0000115 @default.
- Ba1fb6df2251f4da1d9502f056e417db3 annotatedSource MONDO_0017569 @default.
- Ba1fb6df2251f4da1d9502f056e417db3 annotatedTarget "A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." @default.