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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:xanthomatosis
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Accession:DOID:3345 term browser browse the term
Definition:A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. (DO)
Synonyms:exact_synonym: Xanthoma;   xanthelasmatosis;   xanthomas;   xanthomatoses
 narrow_synonym: Xanthelasmas, periorbital
 primary_id: MESH:D014973
 alt_id: OMIM:602247
 xref: EFO:0003075
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11138003 NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Ldlr low density lipoprotein receptor IMP DNA:mutation:exon:478T > A(rat) RGD PMID:22293196 RGD:12910105 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 exacerbates ISO associated with atherosclerosis RGD PMID:30354239 RGD:126925206 NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO associated with atherosclerosis RGD PMID:30354239 RGD:126925206 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547 		JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471 		JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128 		JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by term: Cholestanol storage disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2019602 PMID:7697869 PMID:7860076 PMID:7915755 PMID:8006521 More... RGD:1600872 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:25741868 PMID:28492532 PMID:28590052 NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:1893099 PMID:16458823 PMID:17054684 PMID:17347258 PMID:18930999 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069 		JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Cholestanol storage disease ClinVar PMID:9392430 PMID:10775536 PMID:26937392 PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Nutritional and Metabolic Diseases 8266
      disease of metabolism 8266
        lipid metabolism disorder 1753
          xanthomatosis 59
            Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
            Necrobiotic Xanthogranuloma 0
            Xanthogranulomatous Sialadenitis 0
            cerebrotendinous xanthomatosis 53
            verruciform xanthoma of skin 0
            xanthogranulomatous cholecystitis 0
Path 2
Term Annotations click to browse term
  disease 18970
    Developmental Disease 14384
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13389
        genetic disease 13005
          inherited metabolic disorder 6279
            lipid metabolism disorder 1753
              lipid storage disease 841
                xanthomatosis 59
                  Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 1
                  Necrobiotic Xanthogranuloma 0
                  Xanthogranulomatous Sialadenitis 0
                  cerebrotendinous xanthomatosis 53
                  verruciform xanthoma of skin 0
                  xanthogranulomatous cholecystitis 0
paths to the root