Aliases & Classifications for Xanthomatosis

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Aliases & Descriptions for Xanthomatosis:

Name: Xanthomatosis 10 47 12 36 65
 
Xanthelasmatosis 10

Classifications:



External Ids:

Disease Ontology10 DOID:3345
SNOMED-CT59 63103006
MeSH36 D014973
UMLS65 C0043325

Summaries for Xanthomatosis

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Disease Ontology:10 A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.

MalaCards based summary: Xanthomatosis, also known as xanthelasmatosis, is related to cerebrotendinous xanthomatosis and sitosterolemia, and has symptoms including hypercholesterolemiaand xanthomatosis. An important gene associated with Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Drug Induction of Bile Acid Pathway. Affiliated tissues include breast, brain and lung, and related mouse phenotypes are adipose tissue and growth/size/body region.

Related Diseases for Xanthomatosis

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Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to xanthomatosis

Symptoms for Xanthomatosis

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HPO human phenotypes related to Xanthomatosis:

id Description Frequency HPO Source Accession
1 hypercholesterolemia HP:0003124
2 xanthomatosis HP:0000991

Drugs & Therapeutics for Xanthomatosis

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Drugs for Xanthomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ProbucolapprovedPhase 42123288-49-54912
Synonyms:
2,6-ditert-butyl-4-[2-(3,5-ditert-butyl-4-hydroxyphenyl)sulfanylpropan-2-ylsulfanyl]phenol
23288-49-5
4,4'- (Isopropylidenedithio)bis(2, 6-di-tert-butylphenol)
4,4'- (Isopropylidenedithio)bis(2,6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis(2, 6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis(2,6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis[2, 6-di-tert-butylphenol]
4,4'-(Isopropylidenedithio)bis[2,6-di-tert-butylphenol]
4,4'-(propane-2,2-diyldisulfanediyl)bis(2,6-di-tert-butylphenol)
4,4'-[(1-Methylethylidene)bis(thio)]bis-[2,6-bis(1,1-dimethylethyl)phenol]
AB00052202
AC1L1J88
AKOS001740866
Acetone bis(3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Acetone, bis (3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Acetone, bis(3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Almirall Brand of Probucol
Aventis Brand of Probucol
BPBio1_000625
BRN 2026253
BSPBio_000567
BSPBio_003176
Biphenabid
Bisbid
Bisphenabid
C07373
C31H48O2S2
CAS-23288-49-5
CCRIS 7510
CHEBI:122641
CHEMBL608
CID4912
D00476
D011341
DB01599
DE-3872
DH 581
DH-581
DH581
DivK1c_000599
EINECS 245-560-9
HMS1569M09
HMS1921D21
HMS2092D05
HMS501N21
Hoechst Brand of Probucol
IDI1_000599
KBio1_000599
KBio2_001776
KBio2_002394
KBio2_004344
KBio2_004962
KBio2_006912
KBio2_007530
 
KBio3_002396
KBio3_002873
KBioGR_000708
KBioGR_002394
KBioSS_001776
KBioSS_002399
LORELCO (TN)
LS-13188
Lesterol
Lorelco
Lursell
Lurselle
MLS000028492
MolPort-002-042-265
NCGC00016777-01
NCGC00094895-01
NCGC00094895-02
NCGC00094895-03
NCGC00094895-04
NINDS_000599
NSC 652160
NSC 86225
NSC652160
NSC86225
P9672_FLUKA
P9672_SIGMA
Panavir
Prestwick0_000384
Prestwick1_000384
Prestwick2_000384
Prestwick3_000384
Prestwick_408
Probucol (JAN/USP/INN)
Probucol [USAN:BAN:INN:JAN]
Probucolum
Probucolum [INN-Latin]
Probucolum [inn-latin]
SMR000058265
SPBio_001420
SPBio_002488
SPECTRUM1501109
ST075698
STK762566
Serterol
Sinlestal
Spectrum2_001400
Spectrum3_001438
Spectrum4_000414
Spectrum5_001343
Spectrum_001296
Superlipid
UNII-P3CTH044XJ
ZERO/001429
ZINC01530755
cMAP_000039
probucol
2Anticholesteremic AgentsPhase 4, Phase 3, Phase 21732
3Hypolipidemic AgentsPhase 4, Phase 3, Phase 22228
4Protective AgentsPhase 45651
5AntioxidantsPhase 42442
6AntimetabolitesPhase 4, Phase 3, Phase 29454
7
EzetimibeapprovedPhase 3, Phase 2266163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
8Gamma-sitosterolPhase 3, Phase 25
9
Lovastatinapproved, investigationalPhase 25975330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6╬▒-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
Liposcler
 
Lovalip
Lovalord
Lovastatin
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
10
chenodeoxycholic acidapprovedPhase 225474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
11LaxativesPhase 2344
12L 647318Phase 259
13CatharticsPhase 2344
14Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21804
15DihydromevinolinPhase 259
16Gastrointestinal AgentsPhase 26401
17Calcium, Dietary4678
18Soy BeanNutraceutical455

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing SurveillanceCompletedNCT02730390Phase 4
2Higher-Dose Ezetimibe to Treat Homozygous SitosterolemiaCompletedNCT00099996Phase 3
3SCH-58235 (Ezetimibe) to Treat Homozygous SitosterolemiaCompletedNCT00045812Phase 2
4Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous XanthomatosisRecruitingNCT00004346Phase 2
5Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial HypercholesterolemiaCompletedNCT02462655
6Cerebrotendinous Xanthomatosis (CTX) Prevalence StudyRecruitingNCT02638220
7Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous XanthomatosisRecruitingNCT01613898
8International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582
9Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
10Arterial Wall Calcium Load in Pseudoxanthoma ElasticumRecruitingNCT01731080
11Causes and Natural History of DyslipidemiasRecruitingNCT00353782
12Biomarker for Farber DiseaseRecruitingNCT02298634
13Soy Food Intervention TrialNot yet recruitingNCT00924339
14Cholestanol in HumansWithdrawnNCT00018694

Search NIH Clinical Center for Xanthomatosis


Cochrane evidence based reviews: xanthomatosis

Genetic Tests for Xanthomatosis

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Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

33
Breast, Brain, Lung, Testes, T cells, Liver, Thyroid

Animal Models for Xanthomatosis or affiliated genes

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MGI Mouse Phenotypes related to Xanthomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.3APOE, LDLR, LPL, NR1H4
2MP:00053787.0APOB, APOE, CYP7A1, HMGCR, LDLR, LPL
3MP:00053707.0APOB, APOE, CYP27A1, CYP7A1, HMGCR, LDLR
4MP:00053766.1APOB, APOE, CYP27A1, CYP7A1, HMGCR, LDLR

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50)    (show all 548)
idTitleAuthorsYear
1
Leber hereditary optic neuropathy: current perspectives. (26170609)
2015
2
Choriocarcinoma coexisting with epithelioid trophoblastic tumor of the uterine horn. (26793769)
2015
3
Toll-like receptor 4 gene Asp299Gly and Thr399Ile polymorphisms in type 2 diabetes mellitus: a meta-analysis of 15,059 subjects. (25648392)
2015
4
ERG expression is associated with increased risk of biochemical relapse following radical prostatectomy in early onset prostate cancer. (24796295)
2014
5
Gastric lipoma and pyloric obstruction in a 51-year-old woman. (23648507)
2013
6
Clear lens phacoemulsification combined with vitrectomy to correct high myopia: four years of follow-up. (23257681)
2013
7
Human kinome analysis reveals novel kinases contributing to virus infection and retinoic-acid inducible gene I-induced type I and type III IFN gene expression. (23405030)
2013
8
Sensitivity and specificity of a hand-held milk electrical conductivity meter compared to the California mastitis test for mastitis in dairy cattle. (22981736)
2013
9
A quantitative approach to orbital decompression in Graves' disease using computer-assisted surgery: a compilation of different techniques and introduction of the "temporal cage". (21757273)
2012
10
Urinary mannose-binding lectin is a biomarker for predicting the progression of immunoglobulin (Ig)A nephropathy. (22774989)
2012
11
Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures. (22425652)
2012
12
Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea. (22197452)
2012
13
Adenosine-induced flow arrest to facilitate intracranial aneurysm clip ligation: dose-response data and safety profile. (20418302)
2010
14
Screening mosquito house entry points as a potential method for integrated control of endophagic filariasis, arbovirus and malaria vectors. (20689815)
2010
15
Long-term neurologic and peripheral vascular toxicity after chemotherapy treatment of testicular cancer. (20225230)
2010
16
A Toxoplasma type 2C serine-threonine phosphatase is involved in parasite growth in the mammalian host cell. (19563907)
2009
17
hGPR87 contributes to viability of human tumor cells. (18183596)
2008
18
Leptin in nonalcoholic fatty liver disease. (18753993)
2008
19
Relationships between serum IGF1 levels, blood pressure, and glucose tolerance: an observational, exploratory study in 404 subjects. (18603571)
2008
20
Effect of fenofibrate therapy on paraoxonase1 status in patients with low HDL-C levels. (17412348)
2008
21
Effect of pregnancy and spontaneous delivery on the morphology of levator ani muscle and expression of vaginal nerve fibers]. (19087495)
2008
22
Inducible nitric oxide synthase, nitrotyrosine and p53 mutations in the molecular pathogenesis of Barrett's esophagus and esophageal adenocarcinoma. (17849424)
2008
23
Preparation of the cardiac patient for noncardiac surgery. (17375511)
2007
24
Neuropsychiatric aspects of patients with hypothalamic hamartomas. (17606410)
2007
25
Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery. (17686149)
2007
26
Dermoscopy as a tool for rapid diagnosis of monilethrix. (17373184)
2007
27
Uncombable hair syndrome: a clinical report. (17526443)
2007
28
Toll-like receptor 9 contributes to recognition of Mycobacterium bovis Bacillus Calmette-GuAcrin by Flt3-ligand generated dendritic cells. (16920494)
2006
29
Effect and risk analysis of misoprostol in stimulating cervical maturity for post-term pregnancy]. (16503524)
2006
30
Abnormal Fas/FasL and caspase-3-mediated apoptotic signaling pathways of T lymphocyte subset in patients with systemic lupus erythematosus. (16808908)
2006
31
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. (15921231)
2005
32
The detection of p16 protein in uterine cervix lesions]. (16128131)
2005
33
Molecular mechanism of ursolic acid induced apoptosis in poorly differentiated endometrial cancer HEC108 cells. (16012738)
2005
34
Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6). (15914676)
2005
35
LIM-kinase as a regulator of actin dynamics in spermatogenesis. (15051950)
2003
36
Hypoxia and acidosis activate cardiac myocyte death through the Bcl-2 family protein BNIP3. (12226479)
2002
37
Topoisomerase II-alpha expression in different cell cycle phases in fresh human breast carcinomas. (12011253)
2002
38
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. (11687801)
2001
39
TNF-alpha increases sensitivity to LPS in chronically catheterized rats. (11356645)
2001
40
Mouse ULK2, a novel member of the UNC-51-like protein kinases: unique features of functional domains. (10557072)
1999
41
Galanin within the normal and hyperplastic anterior pituitary gland: localization, secretion, and functional analysis in normal and human growth hormone-releasing hormone transgenic mice. (10098517)
1999
42
Expression analysis of protein kinase C isozymes and multidrug resistance associated genes in ovarian cancer cells. (9615708)
1998
43
The GnRH receptor gene is preferentially expressed in functioning gonadotroph adenomas and displays a Mae III polymorphism site. (9797855)
1998
44
Hunter disease in a girl caused by R468Q mutation in the iduronate-2- sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. (9375851)
1997
45
Preservation of kappa 1 opioid receptor recognition site density and regulation by G-proteins in the temporal cortex of patients with Alzheimer's disease. (7746504)
1995
46
Ocular toxoplasmosis. (8028164)
1994
47
Biological characterization of noninfectious HIV-1 particles lacking the envelope protein. (1546456)
1992
48
A chimeric gene containing the 5' portion of atp6 is associated with cytoplasmic male-sterility of rice. (2148966)
1990
49
Bacterial tracheitis, a case report. (4031715)
1985
50
Acute non-lymphoblastic leukemia. (280458)
1978

Variations for Xanthomatosis

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Expression for genes affiliated with Xanthomatosis

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Search GEO for disease gene expression data for Xanthomatosis.

Pathways for genes affiliated with Xanthomatosis

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Pathways related to Xanthomatosis according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.6CYP7A1, NR1H4
29.6CYP7A1, NR1H4
39.6HMGCR, LDLR
49.5APOB, LPA
5
Show member pathways
9.3CYP27A1, CYP7A1, NR1H4
69.3APOE, LDLR
7
Show member pathways
9.2CYP27A1, CYP7A1, LPL
8
Show member pathways
9.1HMGCR, LDLR, LPL
98.7CYP7A1, HMGCR, LDLR, NR1H4
10
Show member pathways
8.6CYP7A1, HMGCR, LPL, NR1H4
11
Show member pathways
8.4APOB, APOE, LDLR, LPL
12
Show member pathways
8.4APOB, APOE, LDLR, LPL
13
Show member pathways
7.5APOB, APOE, CYP7A1, HMGCR, LDLR, LPL
14
Show member pathways
7.5APOB, APOE, LDLR, LDLRAP1, LPA, LPL
15
Show member pathways
5.8APOB, APOE, CYP27A1, CYP7A1, HMGCR, LDLR

GO Terms for genes affiliated with Xanthomatosis

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Cellular components related to Xanthomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:00306699.9APOB, LDLR
2Golgi apparatusGO:00057949.8APOB, LDLR

Biological processes related to Xanthomatosis according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of macrophage derived foam cell differentiationGO:001074410.0APOB, LPL
2lipid catabolic processGO:001604210.0APOB, LPL
3low-density lipoprotein particle remodelingGO:00343749.8APOB, APOE
4sterol metabolic processGO:00161259.8CYP27A1, CYP7A1
5cholesterol effluxGO:00333449.6APOB, APOE
6lipoprotein metabolic processGO:00421579.6LPA, LPL
7lipoprotein catabolic processGO:00421599.4APOB, APOE, LDLR
8triglyceride catabolic processGO:00194339.2APOB, APOE, LPL
9cholesterol metabolic processGO:00082039.0APOB, APOE, LDLR, LDLRAP1
10retinoid metabolic processGO:00015238.9APOB, APOE, LPL
11lipid transportGO:00068698.9APOB, APOE, LPA
12lipid metabolic processGO:00066298.8APOB, APOE, LPL
13phototransduction, visible lightGO:00076038.8APOB, APOE, LPL
14cholesterol homeostasisGO:00426328.7APOE, LDLR, LPL

Sources for Xanthomatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet