Query author contributions in Reactome
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Details on Person distal arthrogryposis
| Class:Id | Disease:5653601 |
|---|---|
| _displayName | distal arthrogryposis |
| _timestamp | 2014-12-01 15:59:18 |
| created | [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01 |
| definition | A muscle tissue disease characterized_by congenital joint contractures of hand and feet. |
| identifier | 0050646 |
| name | distal arthrogryposis |
| referenceDatabase | [ReferenceDatabase:1247631] DOID |
| synonym | Sheldon-Hall syndrome Freeman-Sheldon syndrome variant Arthrogryposis Multiplex Congenita Freeman-Sheldon syndrome |
| (disease) | [EntityWithAccessionedSequence:5653584] SLC35A3 S296G [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:5653611] SLC35A3 Q172* [Golgi membrane] [Homo sapiens] [DefinedSet:5653620] SLC35A3 mutants [Golgi membrane] [Homo sapiens] [Pathway:5619083] Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) [Homo sapiens] [FailedReaction:5653622] Defective SLC35A3 does not exchange UDP-GlcNAc for UMP [Homo sapiens] |
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No pathways have been reviewed or authored by distal arthrogryposis (5653601)
