SHMARQL

Treacher Collins syndrome

<http://www.wikidata.org/entity/Q744790>

human genetic disorder
Treacher Collins syndrome
rdfs:label
"Treacher Collins syndrome"@en
skos:altLabel
"(Mandibulofacial dysostosis) or (Franceschetti syndrome)"@en
"Franceschetti syndrome"@en
"Franceschetti-Klein syndrome"@en
"Franceschetti-Zwalen-Klein syndrome"@en
"Mandibulofacial dysostosis without limb anomalies"@en
"TCS"@en
"Treacher Collins–Franceschetti syndrome"@en
"mandibulofacial dysostosis"@en
schema:description
"human genetic disorder"@en
schema:dateModified "2026-11-06T12:33:15+00:00"^^xsd:dateTime
schema:version 2565380811
wikibase:identifiers 34
37
wikibase:sitelinks 40
wikibase:statements 61
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D008342>
p:direct-normalized/P508 <http://purl.org/bncf/tid/54618>
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<http://id.nlm.nih.gov/mesh/C05.660.207.231.576>
<http://id.nlm.nih.gov/mesh/C11.270.147.750>
<http://id.nlm.nih.gov/mesh/C16.131.621.207.231.576>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:2908>
p:direct-normalized/P8408 <http://kbpedia.org/kko/rc/TreacherCollinsSyndrome>
wdt:P10283 "C2779076563"
wdt:P11143 "Treacher Collins syndrome"
"Treacher_Collins_syndrome"
wdt:P1193 0.000005^^xsd:decimal
wdt:P12086 "Syndroom_van_Treacher_Collins"
wdt:P1343 The Unified Medical Dictionary (Librairie du Liban, 2009)
wdt:P138 Edward Treacher Collins
wdt:P1417 "science/mandibulofacial-dysostosis"
wdt:P14914 "D00861"
wdt:P1550 "861"
wdt:P1748 "C75018"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Treacher%20Collins%20syndrome%20%28MedMedicine%29.jpg>
wdt:P1995 medical genetics
wdt:P2293 TCOF1
POLR1C
POLR1D
POLR1B
wdt:P268 "13174908d"
wdt:P279 syndrome
autosomal dominant disease
first arch syndrome
wdt:P2841 congenital onset
neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:2908>
<http://purl.obolibrary.org/obo/DOID_2908>
<http://purl.obolibrary.org/obo/HP_0005321>
<http://www.orpha.net/ORDO/Orphanet_861>
wdt:P2892 "C0242387"
"C4229856"
wdt:P31 type of disease
rare disease
wdt:P373 "Treacher Collins syndrome"
wdt:P3841 "HP:0005321"
wdt:P4229 "Q75.4"
wdt:P4233 "treacher-collins-syndrome"
wdt:P4317 "9124"
wdt:P486 "D008342"
wdt:P492 "154500"
"248390"
"613717"
wdt:P493 "756.0"
wdt:P5008 WikiProject Medicine
wdt:P508 "54618"
wdt:P5270 "MONDO_0002457"
wdt:P557 "13267"
wdt:P604 "001659"
wdt:P6366 "2779076563"
wdt:P646 "/m/048g6z"
wdt:P6532 conductive hearing loss
choanal atresia
wdt:P665 "H00610"
wdt:P668 "NBK1532"
wdt:P672 "C05.116.099.370.231.576"
"C05.660.207.231.576"
"C11.270.147.750"
"C16.131.621.207.231.576"
wdt:P673 "1280034"
wdt:P699 "DOID:2908"
wdt:P7464 "treacher-collins-syndrome"
wdt:P7807 "969026676"
wdt:P8408 "TreacherCollinsSyndrome"
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