Disease #04659 (ISS (stature, short, idiopathic familial (ISS)), OMIM:300582)

Official abbreviation	ISS
Name	stature, short, idiopathic familial (ISS)
OMIM ID	300582
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	271
Phenotype entries for this disease	237
Associated with 1 gene	SHOX
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-09-23 10:25:23 +02:00 (CEST)
Date last edited	2015-09-25 17:13:47 +02:00 (CEST)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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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Operator	Column type	Example	Matches
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^	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'
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!=""	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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271 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

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
00050134	-	-	-	F	no	United States	Jewish	-	-	-	-	ISS	father shorter (5ft 6in) than his brother and father (5ft 10in)	SHOX	SHOX	1	1	Johan den Dunnen
00080753	-	-	-	F	no	(Brazil)	-	-	-	-	-	ISS	-	GHR, SHOX	GHR	1	1	Robert Pogue
00115074	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	20	Ralph Roeth
00115080	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115081	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	3	Ralph Roeth
00115086	-	PubMed: Huber 2006	inheritance familial, found in affected mother	M	-	France	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	2	Ralph Roeth
00115090	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115091	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	2	Ralph Roeth
00115092	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115093	-	SHOX Lab Heidelberg, unpublished	-	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115094	-	Esoterix, unpublished	-	-	-	(United States)	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115096	-	PubMed: Rappold 2002	found in unaffected father	-	-	Japan	Asian	-	-	-	-	ISS	short stature, idiopathic (ISS) (normal)	SHOX	SHOX	1	2	Ralph Roeth
00115098	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115100	-	PubMed: Rappold 2002	-	-	-	Japan	Asian	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	2	Ralph Roeth
00115101	-	Silvia C. Souza, Sao Paulo, Brazil, unpublished	-	-	-	Brazil	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115102	-	PubMed: Rappold 2002	-	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115104	-	SHOX Lab Heidelberg, unpublished	-	-	-	Russia	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115105	-	SHOX Lab Heidelberg, unpublished	-	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115106	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	4	Ralph Roeth
00115110	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115113	-	SHOX Lab Heidelberg, unpublished	-	-	-	Spain	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115115	-	SHOX Lab Heidelberg, unpublished	-	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115116	-	Esoterix, unpublished	-	-	-	(United States)	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	8	Ralph Roeth
00115119	-	SHOX Lab Heidelberg, unpublished	-	-	-	Turkey	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115121	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115126	-	PubMed: Rappold 2007	inheritance familial, father, 2 sisters and brother affected	-	-	Turkey	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	4	Ralph Roeth
00115127	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115129	-	PubMed: Rappold 2007	-	-	-	France	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115134	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115143	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115144	-	SHOX Lab Heidelberg, unpublished	-	-	-	Czech Republic	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115145	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	2	Ralph Roeth
00115146	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	2	Ralph Roeth
00115150	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115151	-	PubMed: Schneider 2005	inheritance familial, father and sister affected	-	-	Croatia (Hrvatska)	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	3	Ralph Roeth
00115152	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115153	-	PubMed: A.A.L. Jorge 2006	-	-	-	Brazil	-	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115154	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	8	Ralph Roeth
00115156	-	Esoterix, unpublished	-	-	-	-	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115159	-	SHOX Lab Heidelberg, unpublished	-	-	-	Czech Republic	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115162	-	PubMed: Stuppia 2003	inheritance familial, found in affected mother	-	-	Italy	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	2	Ralph Roeth
00115163	-	PubMed: Stuppia 2003	-	-	-	Italy	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115164	-	PubMed: Stuppia 2003	-	-	-	Italy	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115169	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115170	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115173	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115174	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115175	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	2	Ralph Roeth
00115177	-	SHOX Lab Heidelberg, unpublished	inheritance 1 familial and 2 unknown cases	-	-	Czech Republic;France;Hungary	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	3	Ralph Roeth
00115179	-	PubMed: Rappold 2007	-	-	-	Poland	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115180	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115181	-	PubMed: Huber 2006	-	-	-	France	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115184	-	PubMed: Schneider 2005	-	-	-	Turkey	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115185	-	PubMed: Schneider 2005	inheritance familial, found in 3 affectes	-	-	Japan	Asian	-	-	-	-	ISS	short stature	SHOX	SHOX	1	3	Ralph Roeth
00115186	-	PubMed: Schneider 2005	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	3	Ralph Roeth
00115188	-	PubMed: Rappold 2007	inheritance familial, found in father	-	-	France	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	2	Ralph Roeth
00115189	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115191	-	PubMed: Sabherwal 2004 PubMed: Schneider 2005	-	-	-	Spain	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115194	-	PubMed: Sabherwal 2004 PubMed: Schneider 2005	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	3	Ralph Roeth
00115198	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115200	-	SHOX Lab Heidelberg, unpublished	-	-	-	Croatia (Hrvatska)	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115201	-	SHOX Lab Heidelberg, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	3	Ralph Roeth
00115202	-	SHOX Lab Heidelberg, unpublished	-	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115203	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	4	Ralph Roeth
00115204	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115205	-	PubMed: Rao 1997	3-generation family, 5 affecteds	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	5	Ralph Roeth
00115206	-	PubMed: Rappold 2002	-	-	-	Japan	Asian	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115212	-	Esoterix, unpublished	-	-	-	-	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	2	Ralph Roeth
00115214	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115216	-	PubMed: Shanske 2006	inheritance familial, found in affected mother	M	-	Ecuador	white	-	-	-	-	ISS	short stature, idiopathic (ISS), Madelung deformity (MD)	SHOX	SHOX	1	2	Ralph Roeth
00115217	-	Carol Pitore, pers. comm.	-	-	-	-	-	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115218	-	Esoterix, unpublished	-	-	-	(United States)	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115220	-	PubMed: Sofia Shapiro 2015	-	-	-	United States	-	-	-	-	-	ISS	-	SHOX	SHOX	1	1	Ralph Roeth
00115221	-	Silvia C. Souza, Sao Paulo, Brazil, unpublished	-	-	-	Brazil	-	-	-	-	-	ISS	-	SHOX	SHOX	1	1	Ralph Roeth
00115223	-	PubMed: Huber 2006	-	-	-	France	white	-	-	-	-	ISS	-	SHOX	SHOX	1	1	Ralph Roeth
00115224	-	PubMed: Rappold 2002	inheritance familial, found in unaffected mother	F	-	Japan	Asian	-	-	-	-	ISS	-	SHOX	SHOX	1	2	Ralph Roeth
00115225	-	Esoterix, unpublished	-	-	-	Russia	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115226	-	PubMed: Rappold 2002	-	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115227	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115228	-	PubMed: Rappold 2007	-	-	-	Canada	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115229	-	Esoterix, unpublished	-	-	-	-	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	4	Ralph Roeth
00115232	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115233	-	SHOX Lab Heidelberg, unpublished	-	-	-	France	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115235	-	PubMed: Huber 2006	-	-	-	France	white	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis (LWD)	SHOX	SHOX	1	2	Ralph Roeth
00115236	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	-	SHOX	SHOX	1	1	Ralph Roeth
00115240	-	SHOX Lab Heidelberg, unpublished	-	-	-	Germany	white	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115242	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115243	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	2	Ralph Roeth
00115244	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	35	Ralph Roeth
00115249	-	PubMed: Ross 2005; K. H., unpublished	inheritance familial, found in affected mother	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	2	Ralph Roeth
00115252	-	S.G. Kant, Leiden, NL, pers. comm.	-	-	-	Netherlands	-	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115256	-	PubMed: Messina 2008	-	-	no	Italy	white	-	-	-	-	ISS	short stature, idiopathic (ISS); Becker muscular dystrophy (BMD)	SHOX	SHOX	1	1	Ralph Roeth
00115269	-	Simon Thomas, Salisbury, UK, unpublished	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115274	-	Dr. Moran, United States, pers. comm.	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	1	Ralph Roeth
00115286	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115287	-	PubMed: A.A.L. Jorge 2006	3-generation family, 14 affecteds (7F, 7M)	F	no	Brazil	-	-	-	-	-	ISS	short stature, idiopathic (ISS)	SHOX	SHOX	1	14	Ralph Roeth
00115289	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115290	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115292	-	Esoterix, unpublished	-	-	-	United States	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	1	Ralph Roeth
00115294	-	Esoterix, unpublished	-	-	-	-	-	-	-	-	-	ISS	short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?)	SHOX	SHOX	1	2	Ralph Roeth

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Global Variome shared LOVD

EZH2 (enhancer of zeste homolog 2 (Drosophila))