SHMARQL

Pfeiffer syndrome

<http://www.wikidata.org/entity/Q1286848>

acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull
Pfeiffer syndrome
rdfs:label
"Pfeiffer syndrome"@en
skos:altLabel
"acrocephalosyndactylia type V"@en
schema:description
"acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull"@en
schema:dateModified "2026-10-24T00:32:05+00:00"^^xsd:dateTime
schema:version 2560166643
wikibase:identifiers 16
18
wikibase:sitelinks 20
wikibase:statements 38
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p:P1325 wd:statement/Q1286848-D1987AC0-A4D8-49D4-A699-22FE87558300
p:P14914 wd:statement/Q1286848-19B1E22F-E0C4-4359-B68C-C0583BF8651B
p:P1550 wd:statement/Q1286848-2D010CE3-5358-4241-8263-E8E4D396464C
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p:P18 wd:statement/Q1286848-91F3C555-0B12-4EF5-A9E1-5E3EF3BA702F
p:P1889 wd:statement/Q1286848-F4785EE1-8023-41DE-A8C6-6E5D360282BE
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p:P2293 wd:statement/Q1286848-45813650-A108-4AD3-8BCC-C19227CEF8D0
wd:statement/Q1286848-954C522D-AA98-461F-BBA0-C794FD29ECBD
p:P279 wd:statement/Q1286848-5DB9A503-CCC8-40ED-B490-47EB37AF32F4
wd:statement/Q1286848-B81AD45C-0B6E-4CEB-80F2-D5831090D171
wd:statement/Q1286848-C9CFF39B-C7ED-4856-BF75-1884A4674D5D
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wd:statement/Q1286848-8DA806CB-FE62-4E6C-BDC1-C32A3D7733C7
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p:P31 wd:statement/Q1286848-4A7ADA2A-0789-4971-A4F3-A7D42B5AB56B
wd:statement/Q1286848-5E86DF73-265C-43DA-86F9-304669DF74BE
wd:statement/Q1286848-ABF31881-FBD7-479D-9FA6-5A6CAB8A3CB9
wd:statement/Q1286848-BCF63940-7DC9-48F3-8052-AF8AEF57A4E9
p:P373 wd:statement/Q1286848-107941fd-4ea9-5690-aecc-f1aba0554256
p:P4317 wd:statement/Q1286848-D9A8C263-966F-4C0C-BBCF-D8376158FFDC
p:P492 wd:statement/q1286848-03F06055-D068-4880-8192-0772471F61E8
p:P5008 wd:statement/Q1286848-1A9E89BB-982A-4E3F-9F0D-6786FAB35636
p:P5270 wd:statement/Q1286848-FFF3C80F-2E4C-4F97-B3D1-61CE130C6576
p:P557 wd:statement/q1286848-06EE0319-3360-4566-9C1E-B6F5177B8634
p:P6366 wd:statement/Q1286848-3DE1D716-9376-43E4-99F0-E33ABDF539C4
p:P646 wd:statement/Q1286848-9AC826AC-E329-4105-A3A6-8D5DF2B179BE
p:P665 wd:statement/Q1286848-344EEDAE-0DDD-4AF1-AE29-710D9EF1415C
p:P667 wd:statement/Q1286848-465F946D-4936-4615-A89F-E71B93EEF608
p:P668 wd:statement/Q1286848-30c3e20a-437d-14e5-6a3c-2fb25beacaea
p:P699 wd:statement/Q1286848-E8C5932C-E0E8-492F-AEEE-AEF969A79B4D
p:P7329 wd:statement/Q1286848-e305b827-80b2-4b44-a8f6-5aa26a17764d
p:P7464 wd:statement/Q1286848-02B5BFF8-3E19-49E7-BB20-AA03037A2AB5
p:P7807 wd:statement/Q1286848-C6133D3D-61ED-4AFD-A65B-BCA4DB7EA9C5
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0007043>
p:direct-normalized/P6366 <https://makg.org/entity/2780266490>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01756>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:14705>
wdt:P11143 "Pfeiffer syndrome"
wdt:P11430 "DI-00924"
wdt:P1325 <http://www.nanbyou.or.jp/entry/4675>
wdt:P14914 "D00710"
wdt:P1550 "710"
wdt:P1748 "C99100"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Pfeiffer%27s%20syndrome%20type%20II%20with%20cloverleaf%20shaped%20skull%20and%20bilateral%20proptosis.png>
wdt:P1889 wd:Q207367
wdt:P1995 wd:Q327657
wdt:P2293 wd:Q14911644
wd:Q14914258
wdt:P279 wd:Q1786496
wd:Q18553439
wdt:P2841 wd:Q21953121
wd:Q21953125
wdt:P2888 <http://identifiers.org/doid/DOID:14705>
<http://purl.obolibrary.org/obo/DOID_14705>
wdt:P2892 "C0220658"
wdt:P31 wd:Q112193867
wd:Q112965645
wd:Q42303753
wd:Q929833
wdt:P373 "Pfeiffer syndrome"
wdt:P4317 "7380"
wdt:P492 "101600"
wdt:P5008 wd:Q4099686
wdt:P5270 "MONDO_0007043"
wdt:P557 "32145"
wdt:P6366 "2780266490"
wdt:P646 "/m/09cqjr"
wdt:P665 "H01756"
wdt:P667 "A90"
wdt:P668 "NBK1455"
wdt:P699 "DOID:14705"
wdt:P7329 "LD24.G0"
wdt:P7464 "pfeiffer-syndrome"
wdt:P7807 "1075159878"
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data from SPARQL profile: Wikidata