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Details on Person thanatophoric dysplasia

Class:IdDisease:1625209
_displayNamethanatophoric dysplasia
_timestamp2011-09-30 21:07:13
created[InstanceEdit:1625210] Rothfels, K, 2011-09-30
definitionAn osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
identifier13481
namethanatophoric dysplasia
referenceDatabase[ReferenceDatabase:1247631] DOID
(disease)[EntityWithAccessionedSequence:1226109] FGFR3b S249C [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1226874] p-6Y-FGFR3b S249C mutant [plasma membrane] [Homo sapiens]
[Complex:1226875] Activated FGFR3b S249C mutant [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614387] FGFR3 805fs*141 [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614394] FGFR3 G370C [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614400] FGFR3 K650E [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614402] FGFR3 K650M [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614419] FGFR3 R248C [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614421] FGFR3 S371C [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:1614424] FGFR3 Y373C [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by thanatophoric dysplasia (1625209)