Disease #05296 (OI (osteogenesis imperfecta (OI)))

Official abbreviation OI
Name osteogenesis imperfecta (OI)
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 4232
Phenotype entries for this disease 1117
Associated with 19 genes BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, MBTPS2, MESDC2, P3H1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1
Associated tissues -
Disease features -
Remarks -


Individuals

4232 entries on 43 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
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 Global Variome, with Curator vacancy
00234069 AN_004302 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234078 AN_004311 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI 2 fractures COL1A1 COL1A1 1 1 Global Variome, with Curator vacancy
00234079 AN_004312 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234084 AN_004317 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, with Curator vacancy
00234086 AN_004319 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, with Curator vacancy
00234087 AN_004320 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, with Curator vacancy
00234088 AN_004321 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, with Curator vacancy
00234089 AN_004322 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI 1 fracture COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234097 AN_004329 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234102 AN_004339 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, with Curator vacancy
00234103 AN_004344 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI 2 fractures COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234106 AN_004347 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234127 AN_004373 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234137 AN_004384 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
00234145 AN_004393 PubMed: Schleit 2015, Journal: Schleit 2015 family history - - United States - - 0 - - OI - COL1A1 COL1A1 1 1 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, 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 Global Variome, with Curator vacancy
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »