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- Bba360f7f4d46ca1b2f01620279d9bbf9 hasDbXref "Orphanet:329457" @default.
- Bba360f7f4d46ca1b2f01620279d9bbf9 type Axiom @default.
- Bba360f7f4d46ca1b2f01620279d9bbf9 annotatedProperty IAO_0000115 @default.
- Bba360f7f4d46ca1b2f01620279d9bbf9 annotatedSource MONDO_0014028 @default.
- Bba360f7f4d46ca1b2f01620279d9bbf9 annotatedTarget "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature." @default.