Phenotypes for disease #05296 (OI (osteogenesis imperfecta))

1414 entries on 15 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000083821 osteogenesis imperfecta, multiple fractures, osteopenia, bowing of humeri, radii and tibiae, kyphoscoliosis, anterior vertebral wedging, short stature, fractures declined post puberty, pectus excavatum - - Familial, X-linked dominant - - - - Cecilia Giunta 00105905
0000083822 osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature - - Familial, X-linked dominant - - - - Cecilia Giunta 00105902
0000083823 osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia - - Familial, X-linked dominant - - - - Cecilia Giunta 00105906
0000087544 severe myopia, genu valgum, cleft lip - - Unknown 03y - - - Mouna Barat-Houari 00111702
0000138760 no family history, no tumors - OI-1 Unknown - - - - CEMIC - Genotyping - Angela Solano 00173905
0000174489 blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Unknown 4y - - no collagen screen performed Global Variome, with Curator vacancy 00234068
0000174490 - osteogenesis imperfecta OI-1 Unknown 31y - - Reduced type I procollagen, altered gel mobility Global Variome, with Curator vacancy 00234069
0000174491 multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Familial, autosomal dominant 20y - - no collagen screen performed Global Variome, with Curator vacancy 00234070
0000174492 blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703) osteogenesis imperfecta OI-1 Familial, autosomal dominant 30y - - no collagen screen performed Global Variome, with Curator vacancy 00234071
0000174493 blue sclerae (HP:000592); fractures at birth; triangular face osteogenesis imperfecta OI-1 Unknown 23m - - no collagen screen performed Global Variome, with Curator vacancy 00234072
0000174494 Height/weight 146cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (6); Maligned spine; Beighton 5/9; mild bruising osteogenesis imperfecta OI-1 Isolated (sporadic) 30y - - no collagen screen performed Global Variome, with Curator vacancy 00234073
0000174495 blue sclerae (HP:000592); 2 fractures osteogenesis imperfecta OI-1 Unknown 21m - - no collagen screen performed Global Variome, with Curator vacancy 00234074
0000174496 short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Diffuse osteopenia; Joint laxity osteogenesis imperfecta OI-1 Isolated (sporadic) 3y - - no collagen screen performed Global Variome, with Curator vacancy 00234075
0000174497 blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) osteogenesis imperfecta OI-1 Familial, autosomal dominant 30y - - no collagen screen performed Global Variome, with Curator vacancy 00234076
0000174498 blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Finger and Forearm deformity; no hearing loss (-HP:0000365); no dentinogenesis imperfecta (-HP:0000703) osteogenesis imperfecta OI-1 Familial, autosomal dominant 35y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234077
0000174499 2 fractures osteogenesis imperfecta OI-1 Familial, autosomal dominant 2y - - no collagen screen performed Global Variome, with Curator vacancy 00234078
0000174500 - osteogenesis imperfecta OI-1 Unknown 33y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234079
0000174501 blue sclerae (HP:000592); 1 fracture; triangular face, frontal bossing; Macrocephaly osteogenesis imperfecta OI-1 Familial, autosomal dominant 6y - - no collagen screen performed Global Variome, with Curator vacancy 00234080
0000174502 blue sclerae (HP:000592); multiple fractures (HP:0002757); Easy bruising, loose joints, scoliosis osteogenesis imperfecta OI-1 Familial, autosomal dominant 30y - - no collagen screen performed Global Variome, with Curator vacancy 00234081
0000174503 blue sclerae (HP:000592) osteogenesis imperfecta OI-1 Familial, autosomal dominant 35y - - no collagen screen performed Global Variome, with Curator vacancy 00234082
0000174504 multiple fractures (HP:0002757) (14) osteogenesis imperfecta OI-1 Familial, autosomal dominant 22y - - no collagen screen performed Global Variome, with Curator vacancy 00234083
0000174505 - osteogenesis imperfecta OI-1 Familial, autosomal dominant 5d - - no collagen screen performed Global Variome, with Curator vacancy 00234084
0000174506 blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Unknown 4y - - no collagen screen performed Global Variome, with Curator vacancy 00234085
0000174507 - osteogenesis imperfecta OI-1 Familial, autosomal dominant 33y - - no collagen screen performed Global Variome, with Curator vacancy 00234086
0000174508 - osteogenesis imperfecta OI-1 Unknown - - - no collagen screen performed Global Variome, with Curator vacancy 00234087
0000174509 - osteogenesis imperfecta OI-1 Familial, autosomal dominant <1d - - no collagen screen performed Global Variome, with Curator vacancy 00234088
0000174510 1 fracture osteogenesis imperfecta OI-1 Unknown 1d - - no collagen screen performed Global Variome, with Curator vacancy 00234089
0000174511 dark blue sclera (HP:0000591); 1 fracture osteogenesis imperfecta OI-1 Unknown 1y - - no collagen screen performed Global Variome, with Curator vacancy 00234090
0000174512 dark blue sclera (HP:0000591); multiple fractures (HP:0002757); Hypermobile thumbs osteogenesis imperfecta OI-1 Unknown 3m - - no collagen screen performed Global Variome, with Curator vacancy 00234091
0000174513 blue sclerae (HP:000592); 1 fracture; Hypermobility of some joints (hands and wrist); osteogenesis imperfecta OI-1 Unknown 1y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234092
0000174514 grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365) osteogenesis imperfecta OI-1 Familial, autosomal dominant 34y - - no collagen screen performed Global Variome, with Curator vacancy 00234093
0000174515 short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Joint laxity; was on intravenous bisphosphonate s osteogenesis imperfecta OI-1 Familial, autosomal dominant 8y - - Abnormal proα1(I) chains Global Variome, with Curator vacancy 00234094
0000174516 Height/weight normal; blue sclerae (HP:000592); multiple fractures (HP:0002757); Prominent large and small joint hypermobility; exaggerated lordosis of back; was receiving bisphosphonate treatment as part of Novartis bisphosphonate intervention study but discontinued due to needle phobia osteogenesis imperfecta OI-1 Isolated (sporadic) 13y - - no collagen screen performed Global Variome, with Curator vacancy 00234095
0000174517 Height/weight 66cm at 8m; blue sclerae (HP:000592); multiple fractures (HP:0002757) (5) osteogenesis imperfecta OI-1 Unknown 18m - - collagen screen inconclusive Global Variome, with Curator vacancy 00234096
0000174518 - osteogenesis imperfecta OI-1 Unknown 31y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234097
0000174519 multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Familial, autosomal dominant 20y - - no collagen screen performed Global Variome, with Curator vacancy 00234098
0000174520 blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) osteogenesis imperfecta OI-1 Unknown 30y - - no collagen screen performed Global Variome, with Curator vacancy 00234099
0000174521 Height/weight 3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757); Wormian Bones osteogenesis imperfecta OI-1 Unknown 5m - - Reduced type I procollagen Global Variome, with Curator vacancy 00234100
0000174522 blue sclerae (HP:000592); 1 fracture osteogenesis imperfecta OI-1 Familial, autosomal dominant 7m - - no collagen screen performed Global Variome, with Curator vacancy 00234101
0000174523 - osteogenesis imperfecta OI-1 Unknown 39y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234102
0000174524 2 fractures osteogenesis imperfecta OI-1 Familial, autosomal dominant 4y - - no collagen screen performed Global Variome, with Curator vacancy 00234103
0000174525 blue sclerae (HP:000592); 2 fractures osteogenesis imperfecta OI-1 Familial, autosomal dominant 2y - - no collagen screen performed Global Variome, with Curator vacancy 00234104
0000174526 Height/weight 50th%; blue sclerae (HP:000592) osteogenesis imperfecta OI-1 Familial, autosomal dominant 11m - - no collagen screen performed Global Variome, with Curator vacancy 00234105
0000174527 - osteogenesis imperfecta OI-1 Unknown - - - no collagen screen performed Global Variome, with Curator vacancy 00234106
0000174528 Height/weight 152cm; blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703); Severe aortic regurgitation w/out BAV or aortic stenosis, ascending aortic dilatation, possible endocarditis; thoracolumbar scoliosis osteogenesis imperfecta OI-1 Familial, autosomal dominant 53y - - no collagen screen performed Global Variome, with Curator vacancy 00234107
0000174529 Height/weight 149cm; multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Unknown 22y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234108
0000174530 blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) osteogenesis imperfecta OI-1 Familial, autosomal dominant 47y - - no collagen screen performed Global Variome, with Curator vacancy 00234109
0000174531 Height/weight >3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757) (9); Curving of long bones; Decreased movement of the extremities osteogenesis imperfecta OI-1 Isolated (sporadic) 21d - - no collagen screen performed Global Variome, with Curator vacancy 00234110
0000174532 short stature (HP:0004322); blue sclerae (HP:000592); bowing long bones; hearing loss (HP:0000365); no dentinogenesis imperfecta (-HP:0000703); Scoliosis, bilateral femur and tibia rodding osteogenesis imperfecta OI-1 Unknown 24y - - no collagen screen performed Global Variome, with Curator vacancy 00234111
0000174533 blue sclerae (HP:000592); multiple fractures (HP:0002757) (3) osteogenesis imperfecta OI-1 Unknown 5y - - no collagen screen performed Global Variome, with Curator vacancy 00234112
0000174534 blue sclerae (HP:000592); fractures at birth osteogenesis imperfecta OI-1 Isolated (sporadic) 5y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234113
0000174535 Height/weight 162cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (50+); hearing loss (HP:0000365) osteogenesis imperfecta OI-1 Isolated (sporadic) 26y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234114
0000174536 blue sclerae (HP:000592); no dentinogenesis imperfecta (-HP:0000703) osteogenesis imperfecta OI-1 Familial, autosomal dominant 1y2m - - Reduced type I procollagen Global Variome, with Curator vacancy 00234115
0000174537 blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Forearm deformity; hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703) osteogenesis imperfecta OI-1 Familial, autosomal dominant - - - Reduced type I procollagen Global Variome, with Curator vacancy 00234116
0000174538 multiple fractures (HP:0002757) (20+); bowed femurs osteogenesis imperfecta OI-1 Unknown 30y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234117
0000174539 multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Familial, autosomal dominant 44y - - no collagen screen performed Global Variome, with Curator vacancy 00234118
0000174540 blue sclerae (HP:000592); 1 fracture; Joint hypermobility osteogenesis imperfecta OI-1 Unknown 18m - - no collagen screen performed Global Variome, with Curator vacancy 00234119
0000174541 blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703) osteogenesis imperfecta OI-1 Familial, autosomal dominant 36y - - no collagen screen performed Global Variome, with Curator vacancy 00234120
0000174542 grey sclera (HP:0000591); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Unknown 1y - - no collagen screen performed Global Variome, with Curator vacancy 00234121
0000174543 multiple fractures (HP:0002757) (70+); Scoliosis osteogenesis imperfecta OI-1 Isolated (sporadic) 26y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234122
0000174544 short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); no hearing loss (-HP:0000365); dentinogenesis imperfecta (HP:0000703); Scoliosis; long, hyperextensible fingers; about 10 nevi in face and thorax osteogenesis imperfecta OI-1 Unknown 30y - - no collagen screen performed Global Variome, with Curator vacancy 00234123
0000174545 blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) osteogenesis imperfecta OI-1 Familial, autosomal dominant 2y - - no collagen screen performed Global Variome, with Curator vacancy 00234124
0000174546 blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Unknown 27y - - no collagen screen performed Global Variome, with Curator vacancy 00234125
0000174547 blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Familial, autosomal dominant 2y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234126
0000174548 - osteogenesis imperfecta OI-1 Familial, autosomal dominant 21y - - no collagen screen performed Global Variome, with Curator vacancy 00234127
0000174549 blue sclerae (HP:000592); 1 fracture osteogenesis imperfecta OI-1 Familial, autosomal dominant 1m - - no collagen screen performed Global Variome, with Curator vacancy 00234128
0000174550 Height/weight 155cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Unknown 31y - - no collagen screen performed Global Variome, with Curator vacancy 00234129
0000174551 blue sclerae (HP:000592); multiple fractures (HP:0002757) (7); Frontal bowing osteogenesis imperfecta OI-1 Familial, autosomal dominant - - - no collagen screen performed Global Variome, with Curator vacancy 00234130
0000174552 short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Familial, autosomal dominant 36y - - no collagen screen performed Global Variome, with Curator vacancy 00234131
0000174553 fractures at birth; Contralateral femur bowing osteogenesis imperfecta OI-1 Unknown 4d - - no collagen screen performed Global Variome, with Curator vacancy 00234132
0000174554 blue sclerae (HP:000592); multiple fractures (HP:0002757) (8) osteogenesis imperfecta OI-1 Unknown 34y - - no collagen screen performed Global Variome, with Curator vacancy 00234133
0000174555 blue sclerae (HP:000592) osteogenesis imperfecta OI-1 Familial, autosomal dominant 9y - - no collagen screen performed Global Variome, with Curator vacancy 00234134
0000174556 blue sclerae (HP:000592); Possible tibial bowing osteogenesis imperfecta OI-1 Familial, autosomal dominant 1y6m - - no collagen screen performed Global Variome, with Curator vacancy 00234135
0000174557 multiple fractures (HP:0002757); hearing loss (HP:0000365) osteogenesis imperfecta OI-1 Familial, autosomal dominant 29y - - no collagen screen performed Global Variome, with Curator vacancy 00234136
0000174558 - osteogenesis imperfecta OI-1 Familial, autosomal dominant <1d - - no collagen screen performed Global Variome, with Curator vacancy 00234137
0000174559 blue sclerae (HP:000592); Flexible joints osteogenesis imperfecta OI-1 Unknown 7m - - no collagen screen performed Global Variome, with Curator vacancy 00234138
0000174560 blue sclerae (HP:000592); multiple fractures (HP:0002757) (12) osteogenesis imperfecta OI-1 Familial, autosomal dominant 33y - - no collagen screen performed Global Variome, with Curator vacancy 00234139
0000174561 blue sclerae (HP:000592); multiple fractures (HP:0002757) (3) osteogenesis imperfecta OI-1 Familial, autosomal dominant 14y - - no collagen screen performed Global Variome, with Curator vacancy 00234140
0000174562 blue sclerae (HP:000592) osteogenesis imperfecta OI-1 Familial, autosomal dominant 45d - - no collagen screen performed Global Variome, with Curator vacancy 00234141
0000174563 blue/grey sclera (HP:0000591); 1 fracture osteogenesis imperfecta OI-1 Familial, autosomal dominant 8m - - no collagen screen performed Global Variome, with Curator vacancy 00234142
0000174564 short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) (5) osteogenesis imperfecta OI-1 Unknown 31y - - no collagen screen performed Global Variome, with Curator vacancy 00234143
0000174565 blue sclerae (HP:000592); multiple fractures (HP:0002757) (32); hearing loss (HP:0000365) osteogenesis imperfecta OI-1 Unknown 41y - - no collagen screen performed Global Variome, with Curator vacancy 00234144
0000174566 - osteogenesis imperfecta OI-1 Familial, autosomal dominant 6m - - no collagen screen performed Global Variome, with Curator vacancy 00234145
0000174567 Height/weight 50-75th%; blue sclerae (HP:000592); 2 fractures; Large head (OFC 97%), mother and other relatives with large heads osteogenesis imperfecta OI-1 Familial, autosomal dominant 13m - - collagen screen inconclusive Global Variome, with Curator vacancy 00234146
0000174568 blue sclerae (HP:000592); multiple fractures (HP:0002757) (3); Easy bruising, joint hypermobility, scoliosis osteogenesis imperfecta OI-1 Familial, autosomal dominant 33y - - no collagen screen performed Global Variome, with Curator vacancy 00234147
0000174569 multiple fractures (HP:0002757) (11); Deformity of elbows; Flat feet, cannot walk on tiptoes osteogenesis imperfecta OI-1 Familial, autosomal dominant 14y - - no collagen screen performed Global Variome, with Curator vacancy 00234148
0000174570 short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Isolated (sporadic) 26y - - no collagen screen performed Global Variome, with Curator vacancy 00234149
0000174571 blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) osteogenesis imperfecta OI-1 Familial, autosomal dominant 36y - - no collagen screen performed Global Variome, with Curator vacancy 00234150
0000174572 blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Familial, autosomal dominant 2y6m - - no collagen screen performed Global Variome, with Curator vacancy 00234151
0000174573 blue sclerae (HP:000592); 1 fracture osteogenesis imperfecta OI-1 Familial, autosomal dominant 2y - - no collagen screen performed Global Variome, with Curator vacancy 00234152
0000174574 blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) osteogenesis imperfecta OI-1 Unknown 8y - - no collagen screen performed Global Variome, with Curator vacancy 00234153
0000174575 blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703); Followed for "hip clicks" - no intervention osteogenesis imperfecta OI-1 Unknown 5y - - no collagen screen performed Global Variome, with Curator vacancy 00234154
0000174576 blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) (3) osteogenesis imperfecta OI-1 Familial, autosomal dominant 8y - - no collagen screen performed Global Variome, with Curator vacancy 00234155
0000174577 grey sclera (HP:0000591); multiple fractures (HP:0002757) (3) osteogenesis imperfecta OI-1 Familial, autosomal dominant 1m - - no collagen screen performed Global Variome, with Curator vacancy 00234156
0000174578 fractures at birth; rodding femur rods – bilateral L. tibia rod osteogenesis imperfecta OI-1 Familial, autosomal dominant 28y - - no collagen screen performed Global Variome, with Curator vacancy 00234157
0000174579 blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Familial, autosomal dominant 25y - - no collagen screen performed Global Variome, with Curator vacancy 00234158
0000174580 fractures at birth osteogenesis imperfecta OI-1 Familial, autosomal dominant 35d - - no collagen screen performed Global Variome, with Curator vacancy 00234159
0000174581 blue sclerae (HP:000592); no multiple fractures (-HP:0002757) ; Mild joint hyperextensibilit y osteogenesis imperfecta OI-1 Familial, autosomal dominant 5y - - Reduced type I procollagen Global Variome, with Curator vacancy 00234160
0000174582 blue sclerae (HP:000592); 2 fractures osteogenesis imperfecta OI-1 Familial, autosomal dominant 5m - - no collagen screen performed Global Variome, with Curator vacancy 00234161
0000174583 short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) osteogenesis imperfecta OI-1 Unknown 26y - - no collagen screen performed Global Variome, with Curator vacancy 00234162
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.