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- Ba64d1238e28ac3e3a027fe0c134b0bd8 hasDbXref "Orphanet:2084" @default.
- Ba64d1238e28ac3e3a027fe0c134b0bd8 type Axiom @default.
- Ba64d1238e28ac3e3a027fe0c134b0bd8 annotatedProperty IAO_0000115 @default.
- Ba64d1238e28ac3e3a027fe0c134b0bd8 annotatedSource MONDO_0012013 @default.
- Ba64d1238e28ac3e3a027fe0c134b0bd8 annotatedTarget "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome." @default.