SHMARQL

autosomal dominant spondylocostal dysostosis

<http://www.wikidata.org/entity/Q56013763>

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs
rdfs:label
"autosomal dominant spondylocostal dysostosis"@en
skos:altLabel "Autosomal dominant spondylocostal dysplasia"@en
"spondylocostal dysostosis, autosomal dominant"@en
schema:description "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs"@en
schema:dateModified "2026-10-23T23:32:01+00:00"^^xsd:dateTime
schema:version 2560155702
wikibase:identifiers 4
wikibase:sitelinks 0
wikibase:statements 18
p:P14914 wd:statement/Q56013763-E58FBF57-0A92-4AE2-B364-CD174252947E
p:P1550 wd:statement/Q56013763-DAB0F8BB-B502-4371-B9C3-82FB6EF1021E
p:P2293 wd:statement/Q56013763-3C3EA558-AD99-4604-A8F3-68B761FD7614
p:P279 wd:statement/Q56013763-80393a49-42e2-5988-5f2d-d71c32261c9f
p:P2888 wd:statement/Q56013763-D160D8D1-80EE-4EE2-AC31-B469D4707EAF
p:P31 wd:statement/Q56013763-081E34DB-82F9-49B1-BE07-4A2F0462DC63
p:P4229 wd:statement/Q56013763-44F06083-2E84-4782-8F2A-9473697A7ED2
p:P5270 wd:statement/Q56013763-49DA0C6E-93A7-46D8-A984-3A1E2DCBA38F
p:P6532 wd:statement/Q56013763-373CA6E1-50A3-4E43-8422-8B7197A85F22
wd:statement/Q56013763-405BCEDD-E031-4310-843E-0661C6B8F04D
wd:statement/Q56013763-9F120B2A-5E01-4121-9E6A-025B4471AA92
wd:statement/Q56013763-A5579C15-0D81-47B4-9F95-70A774F132B2
wd:statement/Q56013763-BEAB88AF-C56C-405B-BDEC-27D9DB95C5A9
wd:statement/Q56013763-C32C8081-4EDF-4716-B6F1-2F133547E210
wd:statement/Q56013763-CE9409B2-4D90-434B-BAD2-DCA3C42DF6F4
wd:statement/Q56013763-DDCA9994-5AB6-4B19-A7CD-3F915F940131
wd:statement/Q56013763-F96A098B-B10D-4FE4-B5A6-B795F92EF4FE
wd:statement/Q56013763-FD40E7E7-1CB9-47FB-83A7-6EF3268B0380
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0015826>
wdt:P14914 "D01797"
wdt:P1550 "1797"
wdt:P2293 TBX6
wdt:P279 spondylocostal dysostosis
wdt:P2888 <http://www.orpha.net/ORDO/Orphanet_1797>
wdt:P31 type of disease
wdt:P4229 "Q76.4"
wdt:P5270 "MONDO_0015826"
wdt:P6532 Recurrent respiratory infections
intrauterine growth restriction
scoliosis
dwarfism
spina bifida occulta
anteverted nares
cleft palate
microcephaly
macrocephaly
abnormal lordosis
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