About: facial hypotonia

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: facial hypotonia Goto Sponge NotDistinct Permalink

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

Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).

Attributes	Values
rdf:type	Item
description	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). (en)
exact match	wds:Q29642554-398BA762-C54C-4EE4-B09F-1E22DFD1AAAD
exact match	http://purl.obolibrary.org/obo/HP_0000297
rdfs:label	facial hypotonia (en) faciès hypotonique (fr) gezichtshypotonie (nl) hipotonia facial (ca) hipotonía facial (es) hypotoni i anledet (nn) hypotoni i ansiktet (nb) نقص التوتر الوجهي (ar)
skos:prefLabel	facial hypotonia (en) faciès hypotonique (fr) gezichtshypotonie (nl) hipotonia facial (ca) hipotonía facial (es) hypotoni i anledet (nn) hypotoni i ansiktet (nb) نقص التوتر الوجهي (ar)
name	facial hypotonia (en) faciès hypotonique (fr) gezichtshypotonie (nl) hipotonia facial (ca) hipotonía facial (es) hypotoni i anledet (nn) hypotoni i ansiktet (nb) نقص التوتر الوجهي (ar)
instance of	wds:Q29642554-d8e601a5-4b03-0c54-f5dc-f5cd69ffba59
instance of	clinical sign
subclass of	wds:Q29642554-b3cc1413-4eae-fa62-8c54-111e83d869c5
subclass of	hypotonia
Human Phenotype Ontology ID	wds:Q29642554-edcafda5-4c7a-ff87-8ede-371bc71b4d58
Human Phenotype Ontology ID	HP:0000297
skos:altLabel	Hypotonic facies (en) ansiktshypotoni (nb) hypotoni (nb) hypotoni i fjeset (nb)
UMLS CUI	wds:Q29642554-945F22D0-F994-4999-82F5-D412B90F2C23 wds:Q29642554-f2ac73d5-44a9-0401-c699-3983ada9e5ac
UMLS CUI	C1845251 C4280646
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q29642554
is symptoms and signs of	Smith–Fineman–Myers syndrome NGLY1-deficiency facial paralysis
is symptoms and signs of	wds:Q7545701-e72b78d3-4fb9-e081-7ce2-f872cc4192d6 wds:Q28024539-ACD3671B-6B82-4F90-BC26-E8F59F92316F wds:Q7562539-33a4aa66-47ab-ef4a-f294-c70ea798f73e
is subclass of of	X-linked intellectual disability-hypotonic face syndrome
is subclass of of	wds:Q55999563-e21396fe-46e6-d388-2e6d-e6cf4447c6ac
is main subject of	Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities Detection of facial hypotonia and diagnosis of facioscapulohumeral dystrophy
is main subject of	wds:Q34329257-B1D219CA-AC00-4C1E-8E2F-A7F70BF2C1DF wds:Q46599299-7D27D249-30CA-4934-A3ED-9522E8318C7E wds:Q83050790-BA27E3E5-E035-4685-9FCB-FAD3584E2D31

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 194 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software