Disease #05296 (OI (osteogenesis imperfecta))

Official abbreviation	OI
Name	osteogenesis imperfecta
OMIM ID	-
Inheritance	-
Individuals reported having this disease	4597
Phenotype entries for this disease	1420
Associated with 21 genes	BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, KIF5B, MBTPS2, MESDC2, P3H1, PHLDB1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-06-26 22:59:16 +02:00 (CEST)
Date last edited	2025-09-23 21:54:31 +02:00 (CEST)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
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

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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4597 entries on 46 pages. Showing entries 1 - 100.

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Individual 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	-	-	-	-	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	-	-	-	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	-	-	-	-	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)	-	-	-	-	-	OI	severe myopia, genu valgum, cleft lip	COL2A1	-	-	1	Mouna Barat-Houari
00132773	-	-	-	-	-	Germany	-	-	-	-	-	OI	-	COL1A2	COL1A2	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00173905	?	-	-	-	-	Argentina	-	-	-	Marsá Silvana (smarsa @ gmail.com) FQByF UNSL	-	OI	no family history, no tumors	COL1A1	COL1A1	1	1	CEMIC - Genotyping - Angela Solano
00234068	AN_004301	PubMed: Schleit 2015, Journal: Schleit 2015	-	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234070	AN_004303	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	2 fractures	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234079	AN_004312	PubMed: Schleit 2015, Journal: Schleit 2015	-	-	-	United States	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234080	AN_004313	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234085	AN_004318	PubMed: Schleit 2015, Journal: Schleit 2015	-	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234087	AN_004320	PubMed: Schleit 2015, Journal: Schleit 2015	-	-	-	United States	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234088	AN_004321	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234089	AN_004322	PubMed: Schleit 2015, Journal: Schleit 2015	-	-	-	United States	-	-	-	-	-	OI	1 fracture	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234090	AN_004323	PubMed: Schleit 2015, Journal: Schleit 2015	-	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234098	AN_004331	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234103	AN_004344	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234107	AN_004348	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234128	AN_004374	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234138	AN_004385	PubMed: Schleit 2015, Journal: Schleit 2015	-	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	-	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy
00234146	AN_004394	PubMed: Schleit 2015, Journal: Schleit 2015	family history	-	-	United States	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	OI	blue sclerae (HP:000592); 2 fractures	COL1A1	COL1A1	1	1	Global Variome, with Curator vacancy

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Global Variome shared LOVD

ABHD14A (abhydrolase domain containing 14A)