About: Cholesterol Ester Storage Disease

Not logged in : Login

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Cholesterol Ester Storage Disease Goto Sponge NotDistinct Permalink

An Entity of Type : about:dsyn#this, within Data Space : semmed.demo.openlinksw.com associated with source document(s)

Attributes	Values
type	dsyn
label	Cholesterol Ester Storage Disease cholesterol ester storage disease
http://semmed.demo.../terms#process_of	C0030705 Individual
http://semmed.demo...ksw.com/terms#isa	Disease Lysosomal Storage Diseases Lipoidosis
http://semmed.demo...ms#neg_process_of	Boys
terms:process_of	C0030705 Family Human Child Adult Individual General Population Woman Population Group Girls Brothers Caucasoid Race Boys sibling Adolescent Sister Hispanics
terms:isa	Disease Malnutrition Lysosomal Storage Diseases Metabolic Diseases Dyslipidemias hypercholesterolemia Wolman Disease Lipoidosis
terms:causes	Fibrosis Rare Diseases Dyslipidemias hypercholesterolemia Hypercholesterolemia, Familial
terms:affects	Lysosomal Storage Diseases Renal glomerular disease
terms:coexists_with	Fatty Liver Dyslipidemias Vascular occlusion Right upper quadrant pain
terms:occurs_in	Caucasoid Race Hispanics
terms:neg_process_of	Boys
terms:predisposes	Cardiovascular Diseases
terms:disrupts	Fibroblasts
terms:augments	Fibrosis, Liver
terms:neg_produces	Non-esterified cholesterol
COEXISTS_WITH	Dyslipidemias
schema:identifier	C0008384 c0008384
ISA	hypercholesterolemia Wolman Disease
CAUSES	Dyslipidemias hypercholesterolemia
PROCESS_OF	C0030705 Family Adult Individual Adolescent
is http://semmed.demo...s#associated_with of	SOAT1 LIPA
is http://semmed.demo....com/terms#causes of	Mutation Acid lipase, lysosomal
is http://semmed.demo...terms#location_of of	Hepatic
is http://semmed.demo...m/terms#diagnoses of	X-Ray Computed Tomography Biopsy
is terms:causes of	Homologous Gene Mutation Congenital Abnormality Histidine LIPA Cytosine cholesteryl oleate Wolman Disease Acid lipase, lysosomal LIPA protein, human\|LIPA
is terms:location_of of	Liver Biopsy sample Hepatic
is terms:affects of	Genes LIPA LIPA gene\|LIPA pyrenemethyl laurate
is terms:treats of	Therapeutic procedure Diagnosis Screening procedure Transplantation Simvastatin Protein Replacement Therapy Crystal Structure ezetimibe Lovastatin Cholestyramine enzyme therapy
is terms:coexists_with of	Functional disorder

Faceted Search & Find service v1.17_git42 as of Oct 29 2019

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3322 as of Apr 19 2022, on Linux (x86_64-generic-linux-glibc25), Single-Server Edition (189 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software