spondyloepiphyseal dysplasia, Stanescu type - Wikidata - wikimedia - TriplyDB

spondyloepiphyseal dysplasia, Stanescu type

spondyloepiphyseal dysplasia, Stanescu type

http://www.wikidata.org/entity/Q55784940

about

P2293

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type

P921

Q14877681-239E32C4-48E6-439C-A415-ADFFC87A92EA

P2293

Q36073282-A5EA3650-9AD7-442C-85E0-416916FC5189 Q74565408-45A50F4C-EBD7-4203-A941-D4F057FBD7B0

P921

spondyloepiphyseal dysplasia, Stanescu type

http://www.wikidata.org/entity/Q55784940

description

human disease

@en

name

spondyloepiphyseal dysplasia, Stanescu type

@en

type

label

spondyloepiphyseal dysplasia, Stanescu type

@en

altLabel

SED, Stanescu type

@en

SEDSTN

@en

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

@en

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN

@en

prefLabel

spondyloepiphyseal dysplasia, Stanescu type

@en

P1550

Q55784940-608A7938-C6D1-4F2F-8491-D85132FCD475

P2293

Q55784940-6BED5FF0-E3D1-423C-A40F-5AAA0F59D589

P279

Q55784940-5F3E2646-962E-499E-A46E-964CDFA13B99

Q55784940-DA897D49-2467-4628-BED7-CE0D1725B2F4

P2888

Q55784940-AB4C3B62-A1FA-4A44-8F07-6B533168B3C7

P2892

Q55784940-BD0DAED7-36E4-4489-9171-A36FBB44C538

P31

Q55784940-39875D8D-B91F-42B2-91DD-398BFE508ED4

Q55784940-65051290-0458-4D55-A0FA-81C01CBE5389

Q55784940-722DA1C1-C4C9-4F01-B431-C8FBE28DE0D5

P4229

Q55784940-F9DBAAF0-D59B-4F38-A16B-0C29EE488E8A

P492

Q55784940-F8C95C21-CD39-46A9-966E-A1DBA09F2329

P5270

Q55784940-1DD00132-CA87-4107-979B-7772F5989B4F

P1550

459051

http://www.w3.org/2001/XMLSchema#string

P2293

P279

spondyloepiphyseal dysplasia with congenital joint dislocations

type 2 collagen-related bone disorder

P2888

Orphanet_459051

P2892

C4225273

http://www.w3.org/2001/XMLSchema#string

P31

developmental defect during embryogenesis

P4229

Q77.7

http://www.w3.org/2001/XMLSchema#string

P492

616583

http://www.w3.org/2001/XMLSchema#string

P5270

MONDO:0014701

http://www.w3.org/2001/XMLSchema#string