About: even-plus syndrome

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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)
Mondo ID	wds:Q55785020-DDB1A4C2-0A54-4EEB-B083-50480FB17539
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014801
Mondo ID	MONDO_0014801
rdfs:label	Even-Plus sendromu (tr) Syndrome EVEN-plus (fr) even-plus syndrome (en)
skos:prefLabel	Even-Plus sendromu (tr) Syndrome EVEN-plus (fr) even-plus syndrome (en)
name	Even-Plus sendromu (tr) Syndrome EVEN-plus (fr) even-plus syndrome (en)
instance of	wds:Q55785020-30DCBB3A-1AF9-4AB5-B769-5ED823A6EFE2 wds:Q55785020-B767A357-82D7-4497-8597-EE767AC2E2FF
instance of	class of disease rare disease
subclass of	wds:Q55785020-334BB160-38DD-4846-A3E0-7880174E135C wds:Q55785020-52d09a36-4804-702b-dc65-843035697781
subclass of	genetic disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability
KEGG ID	wds:Q55785020-DAAF2521-8ECD-4E62-81E0-8453F26D2950
KEGG ID	http://www.kegg.jp/entry/H02343
KEGG ID	H02343
UniProt disease ID	wds:Q55785020-ed98c42b-46bc-1360-b1e0-0e16bddd97dd
Orphanet ID	wds:Q55785020-66441f82-4878-5cec-9ce3-46379558f98c
genetic association	wds:Q55785020-F7B3EBF5-1F92-4544-886F-33EC4D16DC88
OMIM ID	wds:Q55785020-822C84C3-1B2A-44D7-A6BD-7B9025BE4A47
UniProt disease ID	DI-04676
Orphanet ID	496751
genetic association	HSPA9
OMIM ID	616854
skos:altLabel	EVPLS (en) Even-Plus Syndrome (en) dysplasie épiphysaire-vertébrale-oreilles-nez avec caractéristiques associées (fr)
UMLS CUI	wds:Q55785020-20D769D6-26F2-48DD-9A80-A0B49A64F428
UMLS CUI	C4225180
is owl:sameAs of	even-plus syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55785020 https://tr.wikipedia.org/wiki/Even-Plus_sendromu
is main subject of	Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin
is main subject of	wds:Q99638036-3947C7DE-92B9-410B-B033-0BE8826601C9 wds:Q36310543-CA95E6E4-B652-4BB8-A14B-36860371C7EF wds:Q92748401-E2033A92-9E1D-4B81-B608-BE088B2D8125

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