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

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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1420 entries on 15 pages. Showing entries 1 - 100.

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Phenotype 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

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Global Variome shared LOVD