Disease #01330 (FOP (fibrodysplasia ossificans progressiva (FOP)), OMIM:135100)

Official abbreviation	FOP
Name	fibrodysplasia ossificans progressiva (FOP)
OMIM ID	135100
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	75
Phenotype entries for this disease	75
Associated with 1 gene	ACVR1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

Legend

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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.

How to query this table

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	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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75 entries on 1 page. Showing entries 1 - 75.

Legend

How to query

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
00204342	-	-	-	-	-	-	-	-	0	-	-	FOP, Healthy/Control	-	ACVR1	ACVR1	1	16	LOVD
00204343	-	-	-	F	-	-	-	-	0	-	-	FOP	Absence of great toes malformation; delayed onset of Heterotopic Ossificaion (HO); defined as FOP-variant; caucasian mother &Sikh father	ACVR1	ACVR1	1	1	LOVD
00204344	-	-	-	F	-	-	-	-	0	-	-	FOP	Normal or minimal changes in the great toes	ACVR1	ACVR1	1	1	LOVD
00204345	-	-	-	F	-	-	-	-	0	-	-	FOP	Monolateral malformation of the great toe; relatively late onset, de novo	ACVR1	ACVR1	1	1	LOVD
00204346	Fam1;FamA	PubMed: Feldman 2000, PubMed: Shore 2006	3-generation family, 4 affected (2F, 2M)	F	-	United States	-	-	0	-	-	FOP	postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes	ACVR1	ACVR1	1	4	LOVD
00204347	-	-	-	-	-	-	-	-	0	-	-	FOP	Thumbs malformation	ACVR1	ACVR1	1	2	LOVD
00204348	-	-	-	-	-	-	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	6	LOVD
00204349	-	-	-	-	-	-	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	3	LOVD
00204352	-	-	-	F	-	El Salvador	-	-	0	-	-	FOP	FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment	ACVR1	ACVR1	1	1	LOVD
00204353	-	-	-	-	-	-	-	-	0	-	-	FOP	FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment	ACVR1	ACVR1	1	2	LOVD
00204354	-	-	-	-	-	-	-	-	0	-	-	FOP	FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment	ACVR1	ACVR1	1	1	LOVD
00204355	-	-	-	-	-	-	-	-	0	-	-	FOP	FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment	ACVR1	ACVR1	1	3	LOVD
00204356	-	-	-	-	-	-	-	-	0	-	-	FOP	FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); Reduction malformation of the digits; mild cognitive impairment; diffuse scalp hair thinning	ACVR1	ACVR1	1	2	LOVD
00204358	-	-	-	-	-	-	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	6	LOVD
00204359	-	-	-	F	-	-	-	-	0	-	-	FOP	Normal great toes	ACVR1	ACVR1	1	1	LOVD
00395244	-	-	-	F	no	Japan	-	-	-	-	-	FOP	-	ACVR1	ACVR1	1	1	Kosei Hasegawa
00395245	Fam2;FamB	PubMed: Feldman 2000, PubMed: Shore 2006	3-generation family, 5 affected (4F, M)	-	-	United Kingdom (Great Britain)	-	-	0	-	-	FOP	postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes	ACVR1	ACVR1	1	5	Johan den Dunnen
00395246	Fam4;FamC	PubMed: Feldman 2000, PubMed: Shore 2006	2-generation family, affected father/daughter	-	-	United States	-	-	0	-	-	FOP	postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes	ACVR1	ACVR1	1	2	Johan den Dunnen
00395247	FamD	PubMed: Shore 2006	2-generation family, affected father/2 daughters	-	-	United States	-	-	0	-	-	FOP	postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes	ACVR1	ACVR1	1	3	Johan den Dunnen
00395248	FamE	PubMed: Shore 2006	2-generation family, affected father/son/daughters	-	-	United States	-	-	0	-	-	FOP	postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes	ACVR1	ACVR1	1	3	Johan den Dunnen
00395249	FamF	PubMed: Shore 2006	family	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395250	FamG	PubMed: Shore 2006	family	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395251	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395252	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395253	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395254	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395255	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395256	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395257	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395258	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395259	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395260	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395261	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395262	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395263	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395264	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395265	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395266	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395267	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395268	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395269	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395270	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395271	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395272	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395273	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395274	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395275	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395276	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395277	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395278	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395279	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395280	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395281	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395282	patient	PubMed: Shore 2006	patient	-	-	United States	-	-	0	-	-	FOP	-	ACVR1	ACVR1	1	1	Johan den Dunnen
00395283	patient	PubMed: Lin 2006	2-generation family, 1 affected, unaffected non-carrier parent	F	-	Taiwan	-	-	0	-	-	FOP	see paper; ...	ACVR1	ACVR1	1	1	Johan den Dunnen
00395284	FOP1	PubMed: Nakajima 2007	2-generation family, 1 affected, unaffected non-carrier parent	M	-	Japan	-	-	0	-	-	FOP	see paper; ..., abnormal great toe, short thumb	ACVR1	ACVR1	1	1	Johan den Dunnen
00395285	FOP2	PubMed: Nakajima 2007	2-generation family, 1 affected, unaffected non-carrier parent	M	-	Japan	-	-	0	-	-	FOP	see paper; ..., scalp baldness, abnormal great toe	ACVR1	ACVR1	1	1	Johan den Dunnen
00395286	FOP3	PubMed: Nakajima 2007	2-generation family, 1 affected, unaffected non-carrier parent	F	-	Japan	-	-	0	-	-	FOP	see paper; ..., short broad femoral neck, abnormal great toe, short thumb	ACVR1	ACVR1	1	1	Johan den Dunnen
00395287	FOP1	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395288	FOP2	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	15m-onset ossification, great toe malformation, hydrocephalus secondary to posterior bulbar expansive lesion of unknown origin (surgical correction)	ACVR1	ACVR1	1	1	Johan den Dunnen
00395289	FOP3	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	4y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395290	FOP4	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	20m-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395291	FOP5	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	8y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395292	FOP6	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	6y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395293	FOP7	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	11y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395294	FOP8	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	11y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395295	FOP9	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	3y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395296	FOP10	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	14y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395297	FOP11	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	6m-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395298	FOP12	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	4y-onset ossification, no great toe malformation	ACVR1	ACVR1	2	1	Johan den Dunnen
00395299	FOP13	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	5y-onset ossification, great toe malformation, episodic seizures	ACVR1	ACVR1	1	1	Johan den Dunnen
00395300	FOP14	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	4y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395301	FOP15	PubMed: Bocciardi 2009	-	M	-	Italy	-	-	0	-	-	FOP	6y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395302	FOP16	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen
00395303	FOP17	PubMed: Bocciardi 2009	-	F	-	Italy	-	-	0	-	-	FOP	14y-onset ossification, great toe malformation	ACVR1	ACVR1	1	1	Johan den Dunnen

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Global Variome shared LOVD