About: SHOX-related short stature

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

About: SHOX-related short stature Goto Sponge Distinct Permalink

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

Attributes	Values
rdf:type	Item
description	unspezifischer Kleinwuchs ohne sichtbare Skelettveränderungen (de)
exact match	wds:Q55782453-9EF98978-DDB7-4FD7-93C4-CFBA621C9543 wds:Q55782453-A1BB9E1F-100E-4F75-AB3F-32141F6CC74D wds:Q55782453-B6302B3E-3BBE-4248-80E6-BC8A0F2581C6
exact match	http://purl.obolibrary.org/obo/DOID_0112120 http://identifiers.org/doid/DOID:0112120 http://www.orpha.net/ORDO/Orphanet_314795
Mondo ID	wds:Q55782453-F4A8EEFB-9AC6-4157-A6D0-D27874C94275
Disease Ontology ID	wds:Q55782453-9BB7853A-0109-436F-9766-30DA80E3F8D3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010367
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0112120
Mondo ID	MONDO_0010367
Disease Ontology ID	DOID:0112120
rdfs:label	SHOX-bedingter Kleinwuchs (de) SHOX-related short stature (en)
skos:prefLabel	SHOX-bedingter Kleinwuchs (de) SHOX-related short stature (en)
name	SHOX-bedingter Kleinwuchs (de) SHOX-related short stature (en)
instance of	wds:Q55782453-3EFDE105-8AEB-4AB8-A2E5-FEA80CD86DB7 wds:Q55782453-6790896F-1EFA-4A93-84DD-146B7FF83172 wds:Q55782453-E37E22E8-DB5C-4D3D-9FEF-F88B35B4F44A wds:Q55782453-EADE124A-F29A-4F52-B7BC-FFA617AC3759 wds:Q55782453-F618A9EF-8BD4-4DA8-9C28-5CD05BF20AFB
instance of	class of disease dwarfism rare disease short stature developmental defect during embryogenesis
subclass of	wds:Q55782453-19137994-598E-4467-A607-6152AAFA8DA9 wds:Q55782453-41B16CCB-EE5D-4EB7-8C12-05F3AC84021B wds:Q55782453-6A9E00CB-E362-44D1-9F7D-C9F1BBDBAA0B
subclass of	monogenic disease bone development disease mesomelic and rhizo-mesomelic dysplasia
KEGG ID	wds:Q55782453-A514D81F-7B92-4CB1-B4FB-3222D6ED3359
KEGG ID	http://www.kegg.jp/entry/H00492
KEGG ID	H00492
UniProt disease ID	wds:Q55782453-65f715b3-48cc-140d-79da-9c97ee2be8b4
Orphanet ID	wds:Q55782453-3650CFF1-48F1-49FA-BDD9-4313912A3667
genetic association	wds:Q55782453-4BF6F7C1-6536-45F5-9D26-F46F5403E32C
ICD-10-CM	wds:Q55782453-24C8BB64-A753-4310-B6E1-F1DBEC4662B6
OMIM ID	wds:Q55782453-695CD5E9-6A01-484E-9F45-F10554460825
UniProt disease ID	DI-01807
Orphanet ID	314795
genetic association	SHOX
ICD-10-CM	Q87.1
OMIM ID	300582
skos:altLabel	ISS (en) SHORT STATURE, IDIOPATHIC, X-LINKED (en) SHORT STATURE, IDIOPATHIC, X-LINKED; ISS (en)
UMLS CUI	wds:Q55782453-D382CD6A-0360-4139-A27B-8908C5DECEC4
UMLS CUI	C1845118
is owl:sameAs of	SHOX-related short stature
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55782453 https://de.wikipedia.org/wiki/SHOX-bedingter_Kleinwuchs
is genetic association of	SHOX
is genetic association of	wds:Q20781917-EFDA23CA-A268-42F5-BCF6-C52D750E62DE

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, 172 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software