About: autosomal recessive dyskeratosis congenita 2

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About: autosomal recessive dyskeratosis congenita 2 Goto Sponge NotDistinct Permalink

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

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.

Attributes	Values
rdf:type	Item
description	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. (en)
exact match	wds:Q50349590-1AA3B410-D727-4427-A6BE-098879DA317C wds:Q50349590-6E923B15-40B4-4417-BA0B-068CC4277034 wds:Q50349590-F54D391D-55BA-48D0-9756-3B7CFA193175
exact match	http://www.orpha.net/ORDO/Orphanet_1775 http://purl.obolibrary.org/obo/DOID_0070017 http://identifiers.org/doid/DOID:0070017
Mondo ID	wds:Q50349590-99238CDD-E994-4269-98E9-434A11860472
Disease Ontology ID	wds:Q50349590-DC8D1DB8-AB95-4622-9DF4-F2D3F0E4B969
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013519
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0070017
Mondo ID	MONDO_0013519
Disease Ontology ID	DOID:0070017
rdfs:label	autosomal recessive dyskeratosis congenita 2 (en)
skos:prefLabel	autosomal recessive dyskeratosis congenita 2 (en)
name	autosomal recessive dyskeratosis congenita 2 (en)
instance of	wds:Q50349590-2E17C7DA-7FB9-42C0-826E-1160EEE6ECA6 wds:Q50349590-68F6DF91-B98E-4727-A39F-BECD84770DB8
instance of	class of disease rare disease
subclass of	wds:Q50349590-3CFF18AF-EA3E-4DE2-8B9B-CE7EF930842D wds:Q50349590-47F097B9-465F-4F0E-B660-455427E49532
subclass of	dyskeratosis congenita autosomal recessive disease
UniProt disease ID	wds:Q50349590-284ef6d9-469d-aad6-c04e-c47579b7e0d4
genetic association	wds:Q50349590-73EAC10A-98DC-44AB-934B-1646D26A23B5
OMIM ID	wds:Q50349590-5DA4E15A-A86B-4390-ABFB-72CA065A2CC2 wds:Q50349590-B643687A-5530-4762-B77C-6F10BECD2513
UniProt disease ID	DI-03167
genetic association	NHP2
OMIM ID	613987
skos:altLabel	DKCB2 (en) DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 (en) Dyskeratosis Congenita, Autosomal Recessive type 2 (en) DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2 (en)
UMLS CUI	wds:Q50349590-1E626029-E1D9-44FB-8D7C-E818730A3637
on focus list of Wikimedia project	wds:Q50349590-24EC6CA6-FF30-4711-8025-39334856B6F0
UMLS CUI	C3151441
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q50349590
is genetic association of	NHP2
is genetic association of	wds:Q18041931-2989424E-66E1-4FF7-A12D-C123139F6F04

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