SHMARQL

otospondylomegaepiphyseal dysplasia

<http://www.wikidata.org/entity/Q7109017>

osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss
rdfs:label
"otospondylomegaepiphyseal dysplasia"@en
skos:altLabel
"CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS"@en
"NANCE-INSLEY SYNDROME"@en
"NANCE-SWEENEY CHONDRODYSPLASIA"@en
"OSMED"@en
"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA"@en
"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED"@en
"otospondylomegaepiphyseal dysplasia, autosomal recessive"@en
schema:description
"osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss"@en
schema:dateModified "2026-10-23T23:25:03+00:00"^^xsd:dateTime
schema:version 2560154300
wikibase:identifiers 15
wikibase:sitelinks 3
wikibase:statements 41
p:P11143 wd:statement/Q7109017-4E151F6E-4835-403B-9D8F-B0DC772E1140
p:P1193 wd:statement/Q7109017-DA39B5A2-3DD0-42D8-AA35-CB6899EE660B
p:P14914 wd:statement/Q7109017-CCBCCD08-AF1B-42E1-9FF8-BD3FF53E251C
p:P1550 wd:statement/Q7109017-e75b8c00-467a-13d8-b354-0b8db5ecb695
p:P1692 wd:statement/Q7109017-5E0EAB80-EEE2-4F1D-A014-4715834D1C49
p:P1995 wd:statement/Q7109017-E09C51A1-E3F9-4E72-B050-6621E58E6883
p:P2293 wd:statement/Q7109017-3804C24B-0DAC-42E4-B16E-1B5D29ED3563
wd:statement/Q7109017-D4CDD8DA-CE9A-4141-8B3A-5A9F240DC858
p:P279 wd:statement/Q7109017-1D283BC5-1E70-4D3A-AC19-221A6DABD60F
wd:statement/Q7109017-52C274BA-6759-4608-AECE-AFEA35F82163
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wd:statement/Q7109017-93047DF2-980F-4A91-9DFF-7A88F7E07F6D
wd:statement/Q7109017-ACA86B32-4B88-4B43-B4C0-08B0F295181C
wd:statement/Q7109017-aa90c772-40de-a08f-1b45-c1d2bbbc481a
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p:P2888 wd:statement/Q7109017-6B4A42FC-A3A7-4854-9B5F-84138D6C0D97
wd:statement/Q7109017-837AA890-93EC-4BE1-ADB9-3803F8776B4C
wd:statement/Q7109017-A56AAC86-422F-4038-BA53-21A8CE53D810
p:P2892 wd:statement/Q7109017-5EC4CAAE-A393-463C-874A-B68524361936
wd:statement/Q7109017-DCDC084F-590A-4B04-8603-88289D644382
p:P31 wd:statement/Q7109017-582F86C9-2DEC-49A0-A7F8-80B98F491124
wd:statement/Q7109017-F36D8832-80BC-476D-95AD-07EE4092775A
p:P4229 wd:statement/Q7109017-8E560F02-AD0B-46AF-9DD2-6B1BE864EE15
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p:P492 wd:statement/Q7109017-4D4B66FC-534B-47B0-A8F5-27973A2C8589
p:P494 wd:statement/Q7109017-e988c1ab-439b-98c6-d8f5-614d18c6e3d9
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p:P5270 wd:statement/Q7109017-71927CE7-8F65-4DD0-854E-34ADEE8DDB91
p:P557 wd:statement/q7109017-6905E712-3F3D-4DF8-9E5A-5B0A76719933
p:P6366 wd:statement/Q7109017-79BC8164-0091-470F-9588-0CC7AADF2371
p:P6532 wd:statement/Q7109017-1AC232AE-122D-43B7-8744-CB2A30DF572F
wd:statement/Q7109017-1AF4927F-22BF-4B0B-A28F-37090DF57B0C
wd:statement/Q7109017-1B0B7924-3633-4C60-B449-2AF2FCFE3EB4
wd:statement/Q7109017-6BD82D10-200F-463B-9221-BB8FEE37CCD2
wd:statement/Q7109017-7DED2DC4-AD3D-40A5-B55F-1F785BFC7686
wd:statement/Q7109017-819FC5D0-A340-4870-B353-57EB6FF13639
wd:statement/Q7109017-9DC0EA2F-F0EA-4CDC-AD32-5AEA34B696E2
p:P665 wd:statement/Q7109017-976475A1-6A04-488D-8B95-E734983D3C43
p:P699 wd:statement/Q7109017-02639D63-955D-4A20-A931-F8C04F03B561
p:P7464 wd:statement/Q7109017-8C0F56FC-0960-4141-A232-6919E0FE901C
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008975>
p:direct-normalized/P6366 <https://makg.org/entity/2777500591>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H02079>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080026>
wdt:P11143 "Otospondylomegaepiphyseal dysplasia"
wdt:P1193 0.000001^^xsd:decimal
wdt:P14914 "D01427"
wdt:P1550 "1427"
wdt:P1692 "759.89"
wdt:P1995 medical genetics
wdt:P2293 COL2A1
COL11A2
wdt:P279 autosomal recessive disease
collagen hereditary disease
osteochondrodysplasia
type 2 collagen-related bone disorder
type 11 collagen-related bone disorder
developmental defect during embryogenesis
wdt:P2841 congenital onset
neonatal onset
wdt:P2888 <http://identifiers.org/doid/DOID:0080026>
<http://purl.obolibrary.org/obo/DOID_0080026>
<http://www.orpha.net/ORDO/Orphanet_1427>
wdt:P2892 "C1855310"
"C4520892"
wdt:P31 type of disease
rare disease
wdt:P4229 "Q77.7"
wdt:P4317 "4130"
wdt:P492 "215150"
wdt:P494 "Q77.7"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0008975"
wdt:P557 "32024"
wdt:P6366 "2777500591"
wdt:P6532 Mild myopia
Glossoptosis
Tibial bowing
hyperopia
bifid uvula
non-syndromic limb reduction defect
osteoarthritis
wdt:P665 "H02079"
wdt:P699 "DOID:0080026"
wdt:P7464 "otospondylomegaepiphyseal-dysplasia"
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