Disease #05476 (SEMDSP (dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)), OMIM:271510)

Official abbreviation	SEMDSP
Name	dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)
OMIM ID	271510
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	27
Phenotype entries for this disease	27
Associated with 1 gene	TONSL
Associated tissues	-
Disease features	autosomal recesive
Remarks	-
Date created	2018-10-20 03:14:40 +02:00 (CEST)
Date last edited	2020-05-19 10:37:38 +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.

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
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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27 entries on 1 page. Showing entries 1 - 27.

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
00183261	-Pat1	Burrage ASHG2018 P277, Journal: Burrage 2019	-	F	-	-	-	-	-	-	-	SEMDSP	see paper; ...	TONSL	TONSL	2	1	Johan den Dunnen
00225433	-Fam1Pat1/2	Journal: Chang 2019	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	no	Korea, South (Republic)	-	-	-	-	-	SEMDSP	see paper; …	TONSL	ARHGAP11A, RELN, TACC2, TONSL, ZBED4	10	2	Johan den Dunnen
00225434	-Pat2	Journal: Burrage 2019	-	F	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225435	-Pat3-1	Journal: Burrage 2019	2-generation family, 2 affected brothers	M	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	2	Johan den Dunnen
00225436	-Pat3-2	Journal: Burrage 2019	-	M	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225437	-Pat4	Journal: Burrage 2019	-	F	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225438	-Pat5	Journal: Burrage 2019	-	F	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225443	-Pat9	Journal: Burrage 2019	-	M	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	1	1	Johan den Dunnen
00225444	-Pat10	Journal: Burrage 2019	-	M	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	1	1	Johan den Dunnen
00225445	-Pat11	Journal: Burrage 2019	-	F	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	-	-	1	Johan den Dunnen
00225446	-Pat12	Journal: Burrage 2019	-	M	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	-	-	1	Johan den Dunnen
00225447	-Pat13	Journal: Burrage 2019	-	M	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225448	-Pat14	Journal: Burrage 2019	-	F	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225449	-Pat15	Journal: Burrage 2019	-	M	-	-	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225450	-Pat2	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Korea, South (Republic)	-	-	-	-	-	SEMDSP	see paper; …	TONSL	FAM47A, TONSL	3	1	Johan den Dunnen
00225451	-Pat3	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Korea, South (Republic)	-	-	-	-	-	SEMDSP	see paper; …	TONSL	SYT14, TONSL	4	1	Johan den Dunnen
00225452	-Pat4	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Brazil	African black;non-Latin European	-	-	-	-	SEMDSP	see paper; …	TONSL	CELSR3, CPS1, DCHS2, FKBP1A-SDCBP2, KCNAB2, LSR, PCDH15, RAB44, SCUBE2, SDCBP2, ST6GALNAC5, STXBP5, TCHHL1, TONSL	15	1	Johan den Dunnen
00225453	-Pat5	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Korea, South (Republic)	-	-	-	-	-	SEMDSP	see paper; …	TONSL	IGSF5, KMT2D, NELFE, PDE8A, SLC22A1, TONSL, TRIM7	11	1	Johan den Dunnen
00225454	-Pat6	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Finland	-	-	-	-	-	SEMDSP	see paper; …	TONSL	FKRP, TONSL	3	1	Johan den Dunnen
00225455	-Pat7	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Korea, South (Republic)	-	-	-	-	-	SEMDSP	see paper; …	TONSL	GBGT1, MLLT4, NSDHL, TONSL	6	1	Johan den Dunnen
00225456	-Pat8	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	India	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225457	-Pat9	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	3	1	Johan den Dunnen
00225458	-Pat10	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225459	-Pat11	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Korea, South (Republic)	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	2	1	Johan den Dunnen
00225460	-Pat12	Journal: Chang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	SEMDSP	see paper; …	TONSL	TONSL	1	1	Johan den Dunnen
00301520	17-2317	PubMed: Micale 2020	-	F	no	(Italy)	-	-	-	-	-	SEMDSP	Frontal bossing, saddled nasal bridge, broad nose, midface hypoplasia, low-set ears, long face, obtuse angles of the mandible, small teeth, short limbs with rhizomelia and relatively normal extremities, genua valga, flatfeet and generalized joint hypermobility.	-	TONSL	2	1	Lucia Micale
00443990	-	-	-	M	yes	(Turkey)	-	-	-	-	-	SEMDSP	rhizomelia, disproportioned short stature, microcephaly, relative macrocephaly, increased lumbar lordosis, kyphosis, metaphyseal dysplasia	-	TONSL	2	1	Murat Ozturk

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How to query

Global Variome shared LOVD

BBS7 (Bardet-Biedl syndrome 7)