About: developmental malformations-deafness-dystonia syndrome

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About: developmental malformations-deafness-dystonia syndrome Goto Sponge NotDistinct Permalink

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

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome

Attributes	Values
rdf:type	Item
description	Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome (en)
exact match	wds:Q55783500-F2480EA6-C056-44B1-9BA1-9660CF4EAC7B
exact match	http://www.orpha.net/ORDO/Orphanet_79107
Mondo ID	wds:Q55783500-3D95ED64-3AFE-4D46-9238-C67C2B9F173E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011823
Mondo ID	MONDO_0011823
rdfs:label	developmental malformations-deafness-dystonia syndrome (en)
skos:prefLabel	developmental malformations-deafness-dystonia syndrome (en)
name	developmental malformations-deafness-dystonia syndrome (en)
instance of	wds:Q55783500-3081894B-1D16-4BC4-BD19-5623F183BD0C wds:Q55783500-51BFA61C-CA56-4342-9B4A-12142676F5D4 wds:Q55783500-8F0EE77A-0047-4D37-8961-0674192842B8 wds:Q55783500-ED2C1A23-66D2-403C-8465-44CCD1F82A8D
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q55783500-CF47BB3B-EB35-4445-BD1D-E89251E5C5AD wds:Q55783500-D71622DF-373E-4EB7-A17E-BF3491AA8E82 wds:Q55783500-DE6106BD-A042-44D3-809D-A90515D4CF98
subclass of	multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndromic genetic deafness rare disorder with dystonia and other neurologic or systemic manifestation
KEGG ID	wds:Q55783500-46689B71-9532-44AF-977E-E74D1C0A27CF
KEGG ID	http://www.kegg.jp/entry/H01255
KEGG ID	H01255
UniProt disease ID	wds:Q55783500-ba84bf7f-4948-ad6a-d993-dc301bb83b4a
Orphanet ID	wds:Q55783500-9DBB24B8-00D2-411D-A344-BED6EADB8588
genetic association	wds:Q55783500-66AE5115-BA38-436B-9087-5CF4BB1557C0
ICD-10-CM	wds:Q55783500-EC1EB018-A5A5-491A-B5CF-2C14B1F66F01
GARD rare disease ID	wds:Q55783500-9E6EDB05-A97F-40D7-AAE3-7E9695701DFC
OMIM ID	wds:Q55783500-AC6F7050-33C3-4484-9E72-E6A3FF67DA9A
UniProt disease ID	DI-00412
Orphanet ID	79107
genetic association	ACTB
ICD-10-CM	Q87.8
GARD rare disease ID	9818
OMIM ID	607371
skos:altLabel	DJO (en) DYSTONIA, JUVENILE-ONSET; DJO (en) Dystonia, juvenile-onset (en) Juvenile-onset dystonia (en)
UMLS CUI	wds:Q55783500-CABFA354-1BC9-45C5-BB67-8C33E61F7796 wds:Q55783500-FFBF0914-F391-4B1F-9636-95FF566F3A8A
MeSH descriptor ID	wds:Q55783500-D5316E85-6097-428E-B19D-8D9FA732D8EE
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537704
UMLS CUI	C1846331 C4303590
MeSH descriptor ID	C537704
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783500
is said to be the same as of	Juvenile-onset dystonia
is said to be the same as of	wds:Q112169037-6759841c-4cf4-02be-a7af-df067dae0c49
is main subject of	Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation SPECT imaging of the dopamine transporter in juvenile-onset dystonia Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI
is main subject of	wds:Q41962739-5F52E730-ECA5-4F6F-B862-2EFB19AEF4A4 wds:Q31845503-F0329ED8-A0E9-44EB-86CB-4F22854497EE wds:Q33649419-A1F7152A-A628-430B-B69F-FFDEEF90F70A wds:Q40745408-5443C44C-59C9-4A8C-814D-B8B8D9A689DA
is genetic association of	ACTB
is genetic association of	wds:Q17709262-F70F831D-C50B-4385-986F-1C1E56B02E9D

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