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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 condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
Synonyms:exact_synonym: Xanthoma;   Xanthomas;   Xanthomatoses;   xanthelasmatosis
 narrow_synonym: Xanthelasmas, periorbital
 primary_id: MESH:D014973;   RDO:0002443
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 Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO OMIM:213700, R446C, R362C
ClinVar Annotator: match by OMIM:213700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis
ClinVar Annotator: match by term: Cholestanol storage disease
OMIM
ClinVar
CTD
RGD
PMID:2019602 PMID:7915755 PMID:8006521 PMID:8014582 PMID:8514861 More... RGD:1600872 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        lipid metabolism disorder 1029
          xanthomatosis 6
            Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 0
            Necrobiotic Xanthogranuloma 0
            Xanthogranulomatous Sialadenitis 0
            cerebrotendinous xanthomatosis 1
            verruciform xanthoma of skin 0
            xanthogranulomatous cholecystitis 0
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          inherited metabolic disorder 2663
            lipid metabolism disorder 1029
              lipid storage disease 556
                xanthomatosis 6
                  Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 0
                  Necrobiotic Xanthogranuloma 0
                  Xanthogranulomatous Sialadenitis 0
                  cerebrotendinous xanthomatosis 1
                  verruciform xanthoma of skin 0
                  xanthogranulomatous cholecystitis 0
paths to the root