SHMARQL

Rothmund-Thomson syndrome

<http://www.wikidata.org/entity/Q1583485>

human disease
Rothmund-Thomson syndrome
rdfs:label
"Rothmund-Thomson syndrome"@en
skos:altLabel
"Congenital poikiloderma"@en
"Poikiloderma Atrophicans and Cataract"@en
"Poikiloderma of Rothmund-Thomson"@en
"ROTHMUND-THOMSON SYNDROME"@en
"ROTHMUND-THOMSON SYNDROME; RTS"@en
"RTS"@en
"Rothmund-Thomson syndrome (disorder)"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-23T23:58:23+00:00"^^xsd:dateTime
schema:version 2560160832
wikibase:identifiers 24
26
wikibase:sitelinks 15
wikibase:statements 58
p:P11143 wd:statement/Q1583485-6AE33F12-DAFE-4014-9B38-2EA8D000147D
p:P1193 wd:statement/Q1583485-E51B16C2-1C85-4D84-BAEA-839343C93675
p:P1325 wd:statement/Q1583485-2AFCB231-71F4-4D85-AD95-84245C7F8C2B
p:P138 wd:statement/Q1583485-92466F5F-E3C1-4F71-B1E4-B6D132646033
p:P14914 wd:statement/Q1583485-375D0748-798D-4E50-A06D-B6C34D7C2AE5
p:P1550 wd:statement/Q1583485-259a29be-4f5b-a9e4-17c3-b3f1f8361e5a
p:P1692 wd:statement/Q1583485-5D16F66A-4E55-4817-8F5A-BA0D80853E8C
p:P1748 wd:statement/Q1583485-4DAC2AAD-66FF-42FE-8F9E-BAE8E266119B
p:P18 wd:statement/Q1583485-19f58cfe-4918-8581-0fa7-4f49a992e0bc
p:P1995 wd:statement/Q1583485-C4F9ACD1-23FC-4A6C-B77D-9162FFC40FCD
p:P2293 wd:statement/Q1583485-CC4A0D0E-32B4-401A-8CB6-90093FE047B1
wd:statement/Q1583485-CDAC7C6A-239E-4FC9-AFFF-7567E6BB2337
wd:statement/Q1583485-E3358AD0-BAC1-4112-AFE6-F9F3BC0E55EE
wd:statement/Q1583485-F8EA8EB8-01E3-4CB4-8729-DA12F9F1862A
p:P2347 wd:statement/Q1583485-DA63E2ED-C3D3-4E31-9F8B-4B05F8D5C99D
p:P279 wd:statement/Q1583485-0B16678E-5B3A-4413-9751-19A2047DE1CA
wd:statement/Q1583485-3AFEA9BF-009D-45D8-AFD6-265BAC4BBE29
wd:statement/Q1583485-5281485A-3F81-4FFC-9C29-EBCE7FF8D509
wd:statement/Q1583485-7810E044-DEDA-4917-A8FA-9C2C6B3D127B
wd:statement/Q1583485-90CD8882-9E6B-46F1-9D8F-4A31738FAF78
wd:statement/Q1583485-A3AA8F8B-79A0-44DE-8D1B-675BBA46A014
wd:statement/Q1583485-C6648707-DCE2-4D63-B474-3A5AFE40D786
wd:statement/Q1583485-DD508B27-78C2-4DA6-8508-64467A211A31
wd:statement/Q1583485-E6AE615F-BEB8-416C-8A79-4E14194734FE
wd:statement/Q1583485-FE155373-8B71-4DBA-B01A-44642AA565E1
wd:statement/q1583485-6c6011ae-4290-b6a7-106e-975a2040da37
p:P2841 wd:statement/Q1583485-641BFA77-F0D7-4FAF-8C6D-34859DF1E5CA
wd:statement/Q1583485-6E84CF7E-B15D-43C7-9DCD-3B60F6719D13
p:P2888 wd:statement/Q1583485-5417B923-A080-4BC6-AC99-07F8EBC96E7E
wd:statement/Q1583485-B62697F1-E681-44CB-A3F7-31ED5827AD84
wd:statement/Q1583485-EC0810FA-C689-4503-8BF7-C0D882A5CA2F
p:P2892 wd:statement/Q1583485-643EB2B7-153F-4C2A-87BD-34BBAA4E7EDF
p:P31 wd:statement/Q1583485-10E0923E-C83C-4A8F-80C0-DE855B3F8AE6
wd:statement/Q1583485-8DB4CD57-D624-486D-AE45-8DB68DDD425A
wd:statement/Q1583485-B0E14D30-9253-4752-8219-BED0181214F1
p:P373 wd:statement/Q1583485-e4d1bd31-4aae-8fc0-93cd-708ec401a393
p:P4229 wd:statement/Q1583485-6246DEDC-162F-41FC-9A3A-C8E28A0BDACF
p:P4317 wd:statement/Q1583485-7A5856AA-82F5-401A-83E5-10F82DB07160
p:P486 wd:statement/Q1583485-3B44141D-F249-4C29-8645-4087E8C301A5
p:P492 wd:statement/Q1583485-DF9E8644-C663-44EE-8B3B-4E68BB93D10D
p:P493 wd:statement/q1583485-0474684E-FE31-47BC-9339-8AC2F3D9D43C
p:P5008 wd:statement/Q1583485-E3F3FEA5-E47E-4F00-A222-FD852B7EA1D9
p:P5270 wd:statement/Q1583485-87A5DEDE-58DE-4C35-9481-0C936ED1CB18
p:P557 wd:statement/q1583485-8BD0E2B5-5870-47B1-A9E3-D8FB899BBB9F
p:P6366 wd:statement/Q1583485-E68E70A0-EC3F-4D61-856F-4AF2B06D3B5E
p:P646 wd:statement/Q1583485-EE3C475D-EE97-47C1-BBDC-18E7273B4B01
p:P6532 wd:statement/Q1583485-1D58815D-8584-4B1C-B308-0B300DECE367
p:P665 wd:statement/Q1583485-0276DD09-C733-494C-BB79-C24FF56A48BC
p:P672 wd:statement/Q1583485-06F46876-3BA0-4AF8-9AAF-4F3B20FD6370
wd:statement/Q1583485-1E99AD16-2DCA-4C80-A6A0-F082C20BB8BA
wd:statement/Q1583485-2585C6AC-0132-443F-A42D-1EF38C8663C3
wd:statement/Q1583485-2A2F5269-0AC3-4310-967D-8125EC7BC2A7
wd:statement/Q1583485-A85BBEDD-C4EF-46CC-B8FF-CD875D91E328
wd:statement/Q1583485-F1E2FCB3-E764-4191-90DE-6DB710318A10
p:P673 wd:statement/q1583485-B738584D-176F-4838-BAB9-2238868C709F
p:P699 wd:statement/Q1583485-85C6045E-D988-415E-B4FF-2094E75B9DC1
p:P7464 wd:statement/Q1583485-D179F2B2-23B4-4EFB-9F92-CC8318A4C637
p:P7807 wd:statement/Q1583485-B92C8705-B3F7-40A9-947E-4BDE9A9C684A
p:direct-normalized/P2347 <http://www.yso.fi/onto/yso/p22906>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D011038>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010002>
p:direct-normalized/P6366 <https://makg.org/entity/2778312553>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01734>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C16.131.831.775>
<http://id.nlm.nih.gov/mesh/C16.320.850.765>
<http://id.nlm.nih.gov/mesh/C16.614.760>
<http://id.nlm.nih.gov/mesh/C17.800.804.775>
<http://id.nlm.nih.gov/mesh/C17.800.827.775>
<http://id.nlm.nih.gov/mesh/C18.452.284.760>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:2732>
wdt:P11143 "Rothmund–Thomson syndrome"
wdt:P1193 0.000001^^xsd:decimal
wdt:P1325 <http://www.nanbyou.or.jp/entry/4471>
wdt:P138 August von Rothmund
wdt:P14914 "D02909"
wdt:P1550 "2909"
wdt:P1692 "759.89"
wdt:P1748 "C3335"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Rothmund-Thomson%20syndrome.jpg>
wdt:P1995 medical genetics
wdt:P2293 DNA2
RECQL4
CRIPT
ANAPC1
wdt:P2347 "22906"
wdt:P279 hereditary neoplastic syndromes
genetic photodermatosis
rare genetic developmental defect during embryogenesis
hereditary poikiloderma
dentocutaneous disease with cataract
ectodermal malformation syndrome associated with ocular features
progeroid syndrome
DNA repair-deficiency disorder
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:2732>
<http://purl.obolibrary.org/obo/DOID_2732>
<http://www.orpha.net/ORDO/Orphanet_2909>
wdt:P2892 "C0032339"
wdt:P31 type of disease
designated intractable/rare disease
rare disease
wdt:P373 "Rothmund–Thomson syndrome"
wdt:P4229 "Q82.8"
wdt:P4317 "4392"
wdt:P486 "D011038"
wdt:P492 "268400"
wdt:P493 "757.33"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010002"
wdt:P557 "29891"
wdt:P6366 "2778312553"
wdt:P646 "/m/0ft_n"
wdt:P6532 tooth abnormality
wdt:P665 "H01734"
wdt:P672 "C16.131.831.775"
"C16.320.850.765"
"C16.614.760"
"C17.800.804.775"
"C17.800.827.775"
"C18.452.284.760"
wdt:P673 "1112093"
wdt:P699 "DOID:2732"
wdt:P7464 "rothmund-thomson-syndrome"
wdt:P7807 "652761118"
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata