Phenotypes for disease #00239 (MFS (syndrome, Marfan (MFS)), OMIM:154700)

165 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000039786 Marfan syndrome, ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height - - Unknown - - 0d - - Ramona Haji-Seyed-Javadi 00053061
0000039788 Marfan syndrome - - Unknown 41y - - - - Kristina Lagerstedt Robinson 00053063
0000039789 Marfan sydnrome,aortic dissection, dural ectasia - - Unknown 41y - 37y - - Kristina Lagerstedt Robinson 00053064
0000039790 Marfan syndrome,tall stature, aortic dissection, long narrow feet - - Familial, autosomal dominant 37y - 32y - - Kristina Lagerstedt Robinson 00053065
0000039791 Marfan syndrome - - Unknown 9y - - - - Kristina Lagerstedt Robinson 00053066
0000039792 Marfan syndrome - - Familial, autosomal dominant - - - - - Paul Coucke 00053067
0000046762 - - - Unknown - - - - - Yulia Rogozhina 00004042
0000060607 Marfan syndrome (OMIM:154700) - - Isolated (sporadic) - - - - - Daniel Trujillano 00081038
0000078453 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00100212
0000156247 Marfan syndrome Marfan syndrome - Unknown - - - - - Andreas Laner 00035753
0000156248 Marfan syndrome Marfan syndrome - Unknown - - - - - Andreas Laner 00035757
0000156254 Marfan syndrome, familial Marfan syndrome, familial - Familial - - - - - Andreas Laner 00035765
0000156263 Marfan syndrome Marfan syndrome - Unknown - - - - - Andreas Laner 00035785
0000156265 Marfan syndrome, familial Marfan syndrome, familial - Familial - - - - - Andreas Laner 00035790
0000173006 Dilatation of the aortic root and ascending aorta, minimal insufficiency of the aortic valve, prolapse of the anterior mitral leaflet, mild insufficiency of the tricuspid valve, progressive scoliosis, spontaneous pneumothorax, mild myopia (-2 diopters on the right and -1.5 diopters on the left), bilateral positive wrist sign, bilateral negative thumb sign, apparent enophthalmos, downslanting palpebral fissures, malar hypoplasia, high-arched palate, severe scoliosis, pectus carinatum, bilateral valgus deformity of the elbow, bilateral metatarsus varus, some mildly atrophic post-surgical scars of the thorax, and striae rubrae of the back. Marfan syndrome (MFS; OMIM 154700) Marfan syndrome (MFS; OMIM 154700) Familial, autosomal dominant 27y - - - p.(?) Carmela Fusco 00229824
0000180210 ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height - - Unknown - - 00d - - Ramona Haji-Seyed-Javadi 00240045
0000187185 Myopia, Dental crowding, Pectus excavatum, Joint hypermobility, Arachnodactyly, Tall stature - - Familial, autosomal dominant - - - - - Valeriia Apukhtina 00248176
0000203719 index = Lisch nodules (HP:0009737);pneumothorax (HP:0002107);chronic constipation (HP:0012450);scoliosis (HP:0002650);malar hypoplasia (HP:0000272);retrognathia (HP:0000278);micrognathia (HP:0000347);tall forehead (HP:0000348);enophthalmos (HP:0000490)kyphosis. Marfan syndrome TSC-1 Unknown - 18y - - - Rosemary Ekong 00265941
0000209036 - Marfan syndrome MFS Familial, autosomal dominant - - - - - Johan den Dunnen 00274062
0000223471 - MFS MFS Familial, autosomal dominant 49y - - - - Angel Zuniga 00296004
0000223472 - MFS MFS Familial, autosomal dominant 54y 20y - - - Angel Zuniga 00296005
0000223473 - MFS MFS Familial, autosomal dominant 42y 15y - - - Angel Zuniga 00296006
0000223475 - MFS MFS Familial, autosomal dominant 34y 12y - - - Angel Zuniga 00296008
0000223476 - MFS MFS Familial, autosomal dominant 42y 20y - - - Angel Zuniga 00296009
0000223477 - MFS MFS Familial, autosomal dominant 36y 10y - - - Angel Zuniga 00296010
0000223478 - MFS MFS Familial, autosomal dominant 22y 22y - - - Angel Zuniga 00296011
0000223479 - MFS MFS Familial, autosomal dominant 26y 08y - - - Angel Zuniga 00296012
0000223480 - MFS MFS Familial, autosomal dominant 17y 17y - - - Angel Zuniga 00296013
0000223481 - MFS MFS Familial, autosomal dominant 23y 15y - - - Angel Zuniga 00296014
0000223482 - MFS MFS Familial, autosomal dominant 43y 18y - - - Angel Zuniga 00296015
0000223483 - MFS MFS Familial, autosomal dominant 14y 14y - - - Angel Zuniga 00296016
0000223604 - MFS MFS Familial, autosomal dominant 20y 19y - - - Angel Zuniga 00296137
0000223716 - MFS MFS Familial, autosomal dominant 08y 08y - - - Angel Zuniga 00296249
0000223717 - MFS MFS Familial, autosomal dominant 48y 19y - - - Angel Zuniga 00296250
0000223718 - MFS MFS Familial, autosomal dominant 50y 23y - - - Angel Zuniga 00296251
0000223719 - MFS MFS Familial, autosomal dominant 05y 05y - - - Angel Zuniga 00296252
0000223720 - MFS MFS Familial, autosomal dominant 44y 15y - - - Angel Zuniga 00296253
0000223721 - MFS MFS Familial, autosomal dominant 56y 25y - - - Angel Zuniga 00296254
0000223722 - MFS MFS Familial, autosomal dominant 48y 28y - - - Angel Zuniga 00296255
0000223723 - MFS MFS Familial, autosomal dominant 40y 12y - - - Angel Zuniga 00296256
0000223724 - MFS MFS Familial, autosomal dominant 28y 20y - - - Angel Zuniga 00296257
0000230384 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 10y - - - - Katta M Girisha 00303307
0000230385 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 30y - - - - Katta M Girisha 00303308
0000230386 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 6y - - - - Katta M Girisha 00303309
0000230387 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 4y - - - - Katta M Girisha 00303310
0000230388 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 14y - - - - Katta M Girisha 00303311
0000230389 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 15y - - - - Katta M Girisha 00303312
0000230390 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 6y - - - - Katta M Girisha 00303313
0000230391 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 1y - - - - Katta M Girisha 00303314
0000230392 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 10y - - - - Katta M Girisha 00303315
0000230393 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 13y - - - - Katta M Girisha 00303316
0000230394 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 14y - - - - Katta M Girisha 00303317
0000230395 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 13y - - - - Katta M Girisha 00303318
0000230396 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 3y6m - - - - Katta M Girisha 00303319
0000230397 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 5y - - - - Katta M Girisha 00303320
0000230398 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 8y - - - - Katta M Girisha 00303321
0000230399 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 3y - - - - Katta M Girisha 00303322
0000230400 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 8y - - - - Katta M Girisha 00303323
0000230401 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 17y - - - - Katta M Girisha 00303324
0000230402 Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 16y - - - - Katta M Girisha 00303325
0000232009 Thoracic Aortic Aneurysm and systemic score of 8 Marfan Marfan - - 28y - - - Philippe Khau Van Kien 00306166
0000232011 neonatal MFS - - Complex - - - - - Philippe Khau Van Kien 00306167
0000232012 - Marfan Marfan Familial - - - - - Philippe Khau Van Kien 00306168
0000242855 disproportionate tall stature (HP:0001519), aortic root dilatation (HP:0002616), ectopia lentis (HP:0001083), myopia (HP:0000545), mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 4m - - - - Katta M Girisha 00324286
0000242856 disproportionate tall stature (HP:0001519), aortic root dilatation (HP:0002616), ectopia lentis (HP:0001083), myopia (HP:0000545), mitral valve prolapse (HP: 0001634) Marfan syndrome MFS Familial, autosomal dominant 4y6m - - - - Katta M Girisha 00324287
0000267718 Wrist and thumb sign Pectus Excavatum Plain Flat Foot Facial features Myopia Retinal detachment Overgrowth of the long bones Aortic dissection - - Familial, autosomal dominant - - - - - 赵 枢泉 00372403
0000271671 - - - Isolated (sporadic) - - - - - Zexu Chen 00376464
0000271866 - suspected Marfan syndrome Marfan syndrome Isolated (sporadic) - - - - - Zexu Chen 00376659
0000271867 - suspected Marfan syndrome Marfan syndrome Unknown - - - - - Zexu Chen 00376660
0000271868 - - - Familial, autosomal dominant - - - - - Zexu Chen 00376661
0000271869 - suspected Marfan syndrome ectopia lentis syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376662
0000271870 - suspected Marfan syndrome ectopia lentis syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376663
0000271871 ectopia lentis suspected Marfan syndrome Marfan syndrome Isolated (sporadic) - - - - - Zexu Chen 00376664
0000271875 ectopia lentis suspected Marfan syndrome Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376667
0000271876 ectopia lentis suspected Marfan syndrome Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376667
0000271877 ectopia lentis suspected Marfan syndrome Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376667
0000271878 - suspected Marfan syndrome potential Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376668
0000271879 ectopia lentis microspherophakia - - Isolated (sporadic) - - - - - Zexu Chen 00376669
0000271881 ectopia lentis microshpheriphakia - - Familial, autosomal dominant - - - - - Zexu Chen 00376671
0000271882 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376672
0000271883 ectopia lentis suspected Marfan syndrome potential Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376673
0000271885 ectopia lentis suspected Marfan syndrome Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376675
0000271886 ectopia lentis - - Unknown - - - - - Zexu Chen 00376674
0000272010 - suspected Marfan syndrome Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376799
0000272011 ectopia lentis - - Familial, autosomal dominant - - - - - Zexu Chen 00376800
0000272012 ectopia lentis suspected Marfan syndrome Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376801
0000272013 ectopia lentis suspected Marfan syndrome Marfan syndrome Familial, autosomal dominant - - - - - Zexu Chen 00376802
0000272014 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376803
0000272015 ectopia lentis suspected Marfan syndrome Marfan syndrome Isolated (sporadic) - - - - - Zexu Chen 00376804
0000272016 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376805
0000272017 ectopia lentis suspected Marfan syndrome Marfan syndrome Isolated (sporadic) - - - - - Zexu Chen 00376806
0000272018 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376807
0000272019 ectopia lentis - - Familial, autosomal dominant - - - - - Zexu Chen 00376808
0000272038 ectopia lentis suspected Marfan syndrome Marfan syndrome Unknown - - - - - Zexu Chen 00376827
0000272040 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376829
0000272041 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376830
0000272047 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376837
0000272048 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376838
0000272050 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376840
0000272051 ectopia lentis - - Isolated (sporadic) - - - - - Zexu Chen 00376841
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