About: Ehlers-Danlos syndrome due to tenascin-X deficiency

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About: Ehlers-Danlos syndrome due to tenascin-X deficiency Goto Sponge Distinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) хвороба людини (uk)
exact match	wds:Q55783453-0765A17F-98EA-4553-8C7A-53AC40F3B4CF
exact match	http://www.orpha.net/ORDO/Orphanet_230839
Mondo ID	wds:Q55783453-05EBD8B8-9107-4B30-B7B3-168C527ED251
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011670
Mondo ID	MONDO_0011670
rdfs:label	Ehlers-Danlos syndrome due to tenascin-X deficiency (en)
skos:prefLabel	Ehlers-Danlos syndrome due to tenascin-X deficiency (en)
name	Ehlers-Danlos syndrome due to tenascin-X deficiency (en)
instance of	wds:Q55783453-6F9CC50F-4053-419E-8E19-2B04D636922C wds:Q55783453-75C80E6A-EC83-4665-A03B-71D00063F6BB wds:Q55783453-BA9C815C-5902-4849-B097-FF545EB03CDD
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55783453-1204FCEA-46DA-4593-B869-57A03B80C68F wds:Q55783453-656834E9-842B-4E9D-9320-DE3B7ED07FFF wds:Q55783453-DC4D92D9-41E8-4D7A-8158-7B7EC72A6285
subclass of	dentinogenesis imperfecta syndromic diaphragmatic or abdominal wall malformation syndromic diaphragmatic or thoracic malformation
UniProt disease ID	wds:Q55783453-cee2d04c-467f-ec66-8cfb-5a0cede9a2e2
Orphanet ID	wds:Q55783453-CE9A91A0-C298-40D8-8C64-998B8420B108
genetic association	wds:Q55783453-1D7B78A1-9F53-404E-B0FD-24CFFF256BF8
ICD-10-CM	wds:Q55783453-BF511D80-F051-4A3C-A400-B3C2F5FC85C6
OMIM ID	wds:Q55783453-9F9370DA-FB4D-4866-BCE8-8814D0814851
UniProt disease ID	DI-01097
Orphanet ID	230839
genetic association	TNXB
ICD-10-CM	Q79.6
OMIM ID	606408
skos:altLabel	EDS DUE TO TNX DEFICIENCY (en) EDS, classic-like type (en) Ehlers-Danlos syndrome, classic-like type (en) Tnx Deficiency (en) EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY (en) Ehlers-Danlos-like syndrome due to tenascin-X deficiency (en)
UMLS CUI	wds:Q55783453-C5A48FCB-496E-409C-B57D-C22B15A916A7
MeSH descriptor ID	wds:Q55783453-6CF3BCB2-4041-4C71-BC37-90A955F72E11
ICD-11 (foundation)	wds:Q55783453-036F5BCF-D77C-467E-86B3-F66A32BD9764 wds:Q55783453-53E3AC16-9B91-4AB7-87F2-90D7277FD288
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536193
UMLS CUI	C1848029
MeSH descriptor ID	C536193
ICD-11 (foundation)	1840696236 215632450
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783453
is main subject of	Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts
is main subject of	wds:Q86931338-BB1489E0-E4B3-43FF-BC9E-2D175D1DA6BB wds:Q92683021-1AEB597F-6C9A-4716-9C75-441E8C428FB4 wds:Q80802542-A368A0F4-ECE9-44D2-9391-D099C5C65273
is genetic association of	TNXB
is genetic association of	wds:Q14914344-B564C741-0404-4F71-BEB6-1F1438C33D84

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