About: neutral lipid storage disease

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

About: neutral lipid storage disease Goto Sponge NotDistinct Permalink

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

lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues (en)
exact match	wds:Q7003001-8F814662-2132-4577-8ADE-DA57E6DF025C wds:Q7003001-DD08BB57-5AAD-498D-AFD4-3A75BA34E102 wds:Q7003001-F4F45C98-AFD1-45B6-BA45-2406376AC663
exact match	http://purl.obolibrary.org/obo/DOID_0050729 http://identifiers.org/doid/DOID:0050729 http://www.orpha.net/ORDO/Orphanet_165
ICD-10	wds:Q7003001-4108ae1e-4452-70cf-f45e-b36d4c7020af
Mondo ID	wds:Q7003001-2E5002B0-6811-443E-8ABB-4F0A7246B404
DiseasesDB	wds:q7003001-1150EA6A-0123-48D6-9097-9CA89B0F890F
Disease Ontology ID	wds:Q7003001-BD320B4E-189B-41BD-99D2-C1AAF33C54F3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0015611
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050729
ICD-10	E75.5
Mondo ID	MONDO_0015611
DiseasesDB	32708
Disease Ontology ID	DOID:0050729
rdfs:label	Dorfman-Chanarin-Syndrom (de) lipidose avec surcharge en triglycérides (fr) neutral lipid storage disease (en) بیماری ذخیره چربی خنثی (fa) مرض تخزين الدهون المحايد (ar) 中性脂質蓄積症 (ja)
skos:prefLabel	Dorfman-Chanarin-Syndrom (de) lipidose avec surcharge en triglycérides (fr) neutral lipid storage disease (en) بیماری ذخیره چربی خنثی (fa) مرض تخزين الدهون المحايد (ar) 中性脂質蓄積症 (ja)
name	Dorfman-Chanarin-Syndrom (de) lipidose avec surcharge en triglycérides (fr) neutral lipid storage disease (en) بیماری ذخیره چربی خنثی (fa) مرض تخزين الدهون المحايد (ar) 中性脂質蓄積症 (ja)
instance of	wds:Q7003001-21A8A741-2A1A-49FC-981A-F5A5CF347B0F wds:Q7003001-7FD84ADA-713E-4066-9728-224B256E4033
instance of	class of disease rare disease
subclass of	wds:Q7003001-986F9C8A-286C-4FDA-BEB5-D67021373865 wds:Q7003001-AC4B634B-33ED-4653-89EF-791B26DD400D wds:Q7003001-C415D6B5-49E4-4772-8F2D-DB132E030047
subclass of	rare dyslipidemia lipid storage disease disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
KEGG ID	wds:Q7003001-C091CD5F-2277-464F-9D76-785BD8D6BF91
KEGG ID	http://www.kegg.jp/entry/H00736
KEGG ID	H00736
UniProt disease ID	wds:Q7003001-422ca01e-44c7-e20f-7860-581944a38644
Orphanet ID	wds:Q7003001-982B977F-4259-4019-A32E-5989739C3D28 wds:Q7003001-c34aa8bc-45e8-d311-ffb2-9bbf72014479
genetic association	wds:Q7003001-52548450-D599-447D-9E31-1040963CEFA1
ICD-10-CM	wds:Q7003001-E2C1D5E4-DF75-4D54-8BA0-BC9518362AFC
GARD rare disease ID	wds:Q7003001-CDE62433-059A-470A-97BE-3FAAF2E50435
OMIM ID	wds:q7003001-A983B0FB-8F58-493B-8F98-5346977DCDE7
UniProt disease ID	DI-00262
Orphanet ID	165 98907
genetic association	ABHD5
ICD-10-CM	E75.5
GARD rare disease ID	3979
OMIM ID	275630
Medical Dictionary...ory Activities ID	wds:Q7003001-340191CE-081A-4844-B859-34C348605625
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10024585
Medical Dictionary...ory Activities ID	10024585
Commons category	wds:Q7003001-5e10d89e-4d48-b573-e500-141710b0c274
Commons category	Neutral lipid storage disease
skos:altLabel	Chanarin-Dorfman syndrome (en) Lipidosis with triglyceride storage disease (en) maladie de Dorfman-Chanarin (fr)
BabelNet ID	wds:Q7003001-BEC6242A-3373-4AC4-8568-AB332402E018
UMLS CUI	wds:Q7003001-8026508E-DB86-4519-A8CA-50E8EDEBF065
Encyclopædia Universalis ID	wds:Q7003001-BC6746A9-874A-4625-82DF-1F32F7A5BEA1
MeSH descriptor ID	wds:Q7003001-1c46826c-4b49-b5ff-6da5-35c591394e80
on focus list of Wikimedia project	wds:Q7003001-B57F8292-FF4F-4E55-9570-E91129751415
Microsoft Academic ID	wds:Q7003001-6A1E8095-691A-43E0-81E4-574B54EB30CF
BabelNet ID	http://babelnet.org/rdf/s01338048n
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536560
Microsoft Academic ID	https://makg.org/entity/2779675566
BabelNet ID	01338048n
UMLS CUI	C0268238
Encyclopædia Universalis ID	syndromes-de-surcharge
MeSH descriptor ID	C536560
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2779675566
WikiProjectMed ID	wds:Q7003001-8B26B371-2C84-4C42-929F-B8BF87247186
WikiProjectMed ID	Neutral lipid storage disease
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q7003001 Neutral lipid storage disease https://de.wikipedia.org/wiki/Dorfman-Chanarin-Syndrom Category:Neutral lipid storage disease https://ar.wikipedia.org/wiki/%D9%85%D8%B1%D8%B6_%D8%AA%D8%AE%D8%B2%D9%8A%D9%86_%D8%A7%D9%84%D8%AF%D9%87%D9%88%D9%86_%D8%A7%D9%84%D9%85%D8%AD%D8%A7%D9%8A%D8%AF https://fa.wikipedia.org/wiki/%D8%A8%DB%8C%D9%85%D8%A7%D8%B1%DB%8C_%D8%B0%D8%AE%DB%8C%D8%B1%D9%87_%DA%86%D8%B1%D8%A8%DB%8C_%D8%AE%D9%86%D8%AB%DB%8C
is subclass of of	neutral lipid storage myopathy
is subclass of of	wds:Q55783762-575D9D77-0EB1-46E3-99FC-F742AA657CF2
is main subject of	Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion.

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, 180 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software