Disease #00693 (OSCDP (osteoarthritis, with mild chondrodysplasia (OSCDP)), OMIM:604864)

Official abbreviation	OSCDP
Name	osteoarthritis, with mild chondrodysplasia (OSCDP)
OMIM ID	604864
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	30
Phenotype entries for this disease	29
Associated with 1 gene	COL2A1
Associated tissues	-
Disease features	-
Remarks	-

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
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Andorra
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Angola
(Angola)
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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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
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Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
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Comoros
(Comoros)
Congo
(Congo)
Cook Islands
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(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
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Cuba
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Gambia
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Guatemala
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Guiana, French
(Guiana, French)
Guinea
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Guinea-Bissau
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Guyana
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Italy
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Libya
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Madagascar
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Malawi
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Malaysia
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Peru
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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Soviet Union (former)
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Spain
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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
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Sweden
(Sweden)
Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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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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\|	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
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>=	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
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Example	Matches
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30 entries on 1 page. Showing entries 1 - 30.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00024287	-	-	-	-	-	? (unknown)	-	-	-	-	OSCDP	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024298	-	-	-	-	-	? (unknown)	-	-	-	-	OSCDP	-	COL2A1	COL2A1	1	1	Johan den Dunnen
00024419	-	-	-	-	-	? (unknown)	-	-	-	-	OSCDP	osteoarthritis ?	COL2A1	COL2A1	1	1	Johan den Dunnen
00024818	-	-	-	F	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	3	Isabelle Touitou
00024819	-	-	-	F	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	3	Isabelle Touitou
00024820	-	-	-	F	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	3	Isabelle Touitou
00024821	-	-	-	F	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	1	Isabelle Touitou
00024823	-	-	-	M	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	1	Isabelle Touitou
00024838	-	-	-	F	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	1	Isabelle Touitou
00024848	-	-	-	M	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	1	Isabelle Touitou
00024886	-	-	-	F	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	5	Isabelle Touitou
00024887	-	-	-	M	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	5	Isabelle Touitou
00024888	-	-	-	M	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	5	Isabelle Touitou
00024889	-	-	-	M	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	5	Isabelle Touitou
00024890	-	-	-	M	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	5	Isabelle Touitou
00024896	-	-	-	F	-	(France)	-	-	-	-	OSCDP	early onset	COL2A1	COL2A1	1	1	Isabelle Touitou
00038405	-	PubMed: Bleasel 1995	-	M	?	(United States)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	2	Isabelle Touitou
00038406	-	PubMed: Bleasel 1996	-	M	?	(United States)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	2	Isabelle Touitou
00038409	-	PubMed: Carlson 2006	-	?	?	(United States)	Micronesian	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	10	Isabelle Touitou
00038416	-	PubMed: Kannu 2010	-	M	no	(Australia)	Australia	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	4	Isabelle Touitou
00038417	-	PubMed: Kannu 2010	-	F	no	(Australia)	Australia	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	3	Isabelle Touitou
00038424	-	PubMed: Löppönen 2004	-	F	?	(Finland)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	2	Isabelle Touitou
00038477	-	PubMed: Williams 1995	-	F	?	(United States)	-	-	-	-	OSCDP	early onset osteoarthritis, spondyloepiphyseal dysplasia	COL2A1	COL2A1	1	4	Isabelle Touitou
00038497	-	Barat-Houari et al, pers.comm.	-	F	?	(France)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	5	Isabelle Touitou
00038498	-	Barat-Houari et al, pers.comm.	-	F	?	(France)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	5	Isabelle Touitou
00038499	-	Barat-Houari et al, pers.comm.	-	F	?	(France)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	6	Isabelle Touitou
00038500	-	Barat-Houari et al, pers.comm.	-	F	?	(France)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	5	Isabelle Touitou
00038501	-	Barat-Houari et al, pers.comm.	-	F	?	(France)	-	-	-	-	OSCDP	early onset osteoarthritis	COL2A1	COL2A1	1	5	Isabelle Touitou
00111433	-	-	-	F	?	(France)	-	-	-	-	OSCDP	-	COL2A1	COL2A1	1	1	Mouna Barat-Houari
00180361	-	-	-	-	-	-	-	-	-	-	OSCDP	-	COL2A1	COL2A1	1	1	Gemeinschaftspraxis für Humangenetik Dresden

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Global Variome shared LOVD