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Schema > Disease > Entries

thanatophoric dysplasia Show undefined attributes

created [InstanceEdit:1625210] Rothfels, K, 2011年09月30日

databaseName DOID

dbId 1625209

definition An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

displayName thanatophoric dysplasia

identifier 13481

name

thanatophoric dysplasia

referenceDatabase [ReferenceDatabase:1247631] DOID

schemaClass Disease

url https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:13481

Referrals

(disease)

[Complex:R-HSA-2033324] FGFR3 K650M mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614402] FGFR3 K650M [plasma membrane]
[CandidateSet:R-HSA-2038375] FGFR3 (4;14) translocation mutant dimers [plasma membrane]
[Complex:R-HSA-2033332] FGFR3 K650E mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614400] FGFR3 K650E [plasma membrane]
[Complex:R-HSA-2038350] FGFR3 795fs*139STOP mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614387] FGFR3 805fs*141 [plasma membrane]
[Complex:R-HSA-2038352] FGFR3 S371C mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614421] FGFR3 S371C [plasma membrane]
[Complex:R-HSA-2038353] FGFR3 Y373C mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614424] FGFR3 Y373C [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1226109] FGFR3b S249C [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614394] FGFR3 G370C [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1614419] FGFR3 R248C [plasma membrane]
[Complex:R-HSA-2011985] Activated FGFR3 S371C mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011886] p-6Y-FGFR3 S371C [plasma membrane]
[Complex:R-HSA-1226875] Activated FGFR3b S249C mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-1226874] p-6Y-FGFR3b S249C mutant [plasma membrane]
[Complex:R-HSA-2011986] Activated FGFR3 Y373C mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011889] p-6Y-FGFR3 Y373C [plasma membrane]
[Complex:R-HSA-2038362] Activated FGFR3 795fs*139STOP mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2038360] p-6Y-FGFR3 805fs*141 [plasma membrane]
[Complex:R-HSA-2011982] Activated FGFR3 R248C mutant dimer [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2011884] p-6Y-FGFR3 R248C [plasma membrane]
[Complex:R-HSA-2033333] Activated FGFR3 K650E mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032952] p-6Y-FGFR3 K650E [plasma membrane]
[Complex:R-HSA-2033334] Activated FGFR3 K650M mutant [plasma membrane]
[EntityWithAccessionedSequence:R-HSA-2032959] p-6Y-FGFR3 K650M [plasma membrane]

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