Disease #05296

Official abbreviation OI
Name osteogenesis imperfecta (OI)
OMIM ID -
Inheritance -
Individuals reported having this disease 250
Phenotype entries for this disease 249
Associated with 3 genes COL1A1, COL1A2, MBTPS2
Associated tissues -
Disease features -
Remarks -


Individuals

250 entries on 3 pages. Showing entries 1 - 100.
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00105902 27380894-FamIIAPat1/II PubMed: Lindert 2016, Journal: Lindert 2016 3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II M no Germany German - 0 - - OI osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature MBTPS2 CCDC120, COL1A1, MBTPS2 3 2 Cecilia Giunta
00105905 27380894-FamIIAPat2/II PubMed: Lindert 2016, Journal: Lindert 2016 Pat2/II M no Germany German 68y 0 - - OI osteogenesis imperfecta, multiple fractures, osteopenia, bowing of humeri, radii and tibiae, kyphoscoliosis, anterior vertebral wedging, short stature, fractures declined post puberty, pectus excavatum MBTPS2 MBTPS2 1 1 Cecilia Giunta
00105906 27380894-Fam1PatV7 PubMed: Lindert 2016, Journal: Lindert 2016 5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7 M no Thailand AsianO - 0 - - OI osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia COL1A2, MBTPS2 COL1A2, MBTPS2, SUPT20HL1 3 12 Cecilia Giunta
00111702 - - - F ? (France) - - 0 - - OI severe myopia, genu valgum, cleft lip COL2A1 - 0 1 Mouna Barat-Houari
00132773 - - - - - Germany - - 0 - - OI - COL1A2 COL1A2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00173905 ? - - - - Argentina - - 0 Marsá Silvana (smarsa @ gmail.com) FQByF UNSL - OI no family history, no tumors COL1A1 COL1A1 1 1 Angela Solano & F Cardoso
00234068 AN_004301 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234069 AN_004302 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234070 AN_004303 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234071 AN_004304 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234072 AN_004305 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); fractures at birth; triangular face COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234073 AN_004306 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - 0 - - OI Height/weight 146cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (6); Maligned spine; Beighton 5/9; mild bruising COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234074 AN_004307 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); 2 fractures COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234075 AN_004308 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - 0 - - OI short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Diffuse osteopenia; Joint laxity COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234076 AN_004309 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234077 AN_004310 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Finger and Forearm deformity; no hearing loss (-HP:0000365); no dentinogenesis imperfecta (-HP:0000703) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234078 AN_004311 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI 2 fractures COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234079 AN_004312 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234080 AN_004313 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); 1 fracture; triangular face, frontal bossing; Macrocephaly COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234081 AN_004314 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757); Easy bruising, loose joints, scoliosis COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234082 AN_004315 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234083 AN_004316 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI multiple fractures (HP:0002757) (14) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234084 AN_004317 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234085 AN_004318 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234086 AN_004319 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234087 AN_004320 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234088 AN_004321 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234089 AN_004322 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI 1 fracture COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234090 AN_004323 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI dark blue sclera (HP:0000591); 1 fracture COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234091 AN_004324 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI dark blue sclera (HP:0000591); multiple fractures (HP:0002757); Hypermobile thumbs COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234092 AN_004325 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); 1 fracture; Hypermobility of some joints (hands and wrist); COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234093 AN_004326 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234094 AN_004327 PubMed: Schleit 2015, Journal: Schleit 2015, Marini et al 2007 family history - - United States - - 0 - - OI short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Joint laxity; was on intravenous bisphosphonate s COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234095 AN_004543 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - 0 - - OI 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 COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234096 AN_004328 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI Height/weight 66cm at 8m; blue sclerae (HP:000592); multiple fractures (HP:0002757) (5) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234097 AN_004329 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234098 AN_004331 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234099 AN_004333 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234100 AN_004335 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI Height/weight 3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757); Wormian Bones COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234101 AN_004544 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); 1 fracture COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234102 AN_004339 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234103 AN_004344 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI 2 fractures COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234104 AN_004345 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); 2 fractures COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234105 AN_004346 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI Height/weight 50th%; blue sclerae (HP:000592) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234106 AN_004347 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234107 AN_004348 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI 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 COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234108 COL1A1_00364 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI Height/weight 149cm; multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234109 AN_004354 PubMed: Schleit 2015, Journal: Schleit 2015, Marini et al 2007 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234110 AN_004355 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - 0 - - OI Height/weight >3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757) (9); Curving of long bones; Decreased movement of the extremities COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234111 NA PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI 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 COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234112 AN_004358 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (3) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234113 AN_004359 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - 0 - - OI blue sclerae (HP:000592); fractures at birth COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234114 AN_004360 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - 0 - - OI Height/weight 162cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (50+); hearing loss (HP:0000365) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234115 AN_004361 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); no dentinogenesis imperfecta (-HP:0000703) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234116 AN_004362 PubMed: Schleit 2015, Journal: Schleit 2015, Marini et al 2007 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Forearm deformity; hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234117 AN_004363 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI multiple fractures (HP:0002757) (20+); bowed femurs COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234118 AN_004364 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234119 AN_004365 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); 1 fracture; Joint hypermobility COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234120 AN_004366 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234121 AN_004367 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI grey sclera (HP:0000591); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234122 AN_004368 PubMed: Schleit 2015, Journal: Schleit 2015, Willing et al 1994 no family history - - United States - - 0 - - OI multiple fractures (HP:0002757) (70+); Scoliosis COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234123 AN_004369 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI 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 COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234124 AN_004370 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234125 AN_004371 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234126 AN_004372 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234127 AN_004373 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234128 AN_004374 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); 1 fracture COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234129 AN_004375 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI Height/weight 155cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234130 AN_004376 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (7); Frontal bowing COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234131 AN_004377 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234132 AN_004378 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI fractures at birth; Contralateral femur bowing COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234133 AN_004379 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (8) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234134 AN_004380 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234135 AN_004381 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); Possible tibial bowing COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234136 AN_004382 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI multiple fractures (HP:0002757); hearing loss (HP:0000365) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234137 AN_004384 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234138 AN_004385 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); Flexible joints COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234139 AN_004386 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (12) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234140 AN_004387 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (3) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234141 AN_004388 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234142 AN_004389 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue/grey sclera (HP:0000591); 1 fracture COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234143 AN_004390 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) (5) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234144 AN_004391 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (32); hearing loss (HP:0000365) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234145 AN_004393 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234146 AN_004394 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI Height/weight 50-75th%; blue sclerae (HP:000592); 2 fractures; Large head (OFC 97%), mother and other relatives with large heads COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234147 AN_004395 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (3); Easy bruising, joint hypermobility, scoliosis COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234148 AN_004396 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI multiple fractures (HP:0002757) (11); Deformity of elbows; Flat feet, cannot walk on tiptoes COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234149 AN_004397 PubMed: Schleit 2015, Journal: Schleit 2015 no family history - - United States - - 0 - - OI short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234150 AN_004398 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234151 AN_004399 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234152 AN_004400 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); 1 fracture COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234153 AN_004401 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) (4) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234154 AN_004402 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703); Followed for "hip clicks" - no intervention COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234155 AN_004404 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) (3) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234156 AN_004405 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI grey sclera (HP:0000591); multiple fractures (HP:0002757) (3) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234157 AN_004406 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI fractures at birth; rodding femur rods – bilateral L. tibia rod COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234158 AN_004407 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); multiple fractures (HP:0002757) COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234159 AN_004408 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI fractures at birth COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234160 AN_004409 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); no multiple fractures (-HP:0002757) ; Mild joint hyperextensibilit y COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
00234161 AN_004410 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI blue sclerae (HP:000592); 2 fractures COL1A1 COL1A1 1 1 LOVD-team, but with Curator vacancy
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