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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 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 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Ldlr low density lipoprotein receptor IMP DNA:mutation:exon:478T > A(rat) RGD PMID:22293196 RGD:12910105 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
JBrowse link
cerebrotendinous xanthomatosis term browser
Symbol Object Name 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
PMID:2019602, PMID:7915755, PMID:8006521, PMID:8014582, PMID:8514861, PMID:8730343, PMID:8827518, PMID:8931710, PMID:8950197, PMID:9008528, PMID:9186905, PMID:9254865, PMID:9392430, PMID:9521761, PMID:9548584, PMID:9790667, PMID:10406988, PMID:10430841, PMID:10519880, PMID:10741487, PMID:10775536, PMID:11181744, PMID:11737215, PMID:11903362, PMID:12000359, PMID:12117727, PMID:12270007, PMID:12555943, PMID:12933951, PMID:14741198, PMID:14999499, PMID:15795599, PMID:16157755, PMID:16278884, PMID:16816916, PMID:17030721, PMID:17319284, PMID:17444890, PMID:17697869, PMID:18227423, PMID:18414213, PMID:19204079, PMID:19373932, PMID:19801147, PMID:20301583, PMID:20402754, PMID:20450308, PMID:20558929, PMID:20925952, PMID:20981092, PMID:21073839, PMID:21228398, PMID:21345536, PMID:21404287, PMID:21553098, PMID:21627786, PMID:21645175, PMID:21764626, PMID:21955034, PMID:21958693, PMID:21966169, PMID:22197981, PMID:22336472, PMID:22849591, PMID:22878431, PMID:23212406, PMID:23287330, PMID:23659550, PMID:24002088, PMID:24033266, PMID:24080357, PMID:24174808, PMID:24584636, PMID:24627108, PMID:24746394, PMID:25112387, PMID:25447658, PMID:25525159, PMID:25741868, PMID:25862734, PMID:25941960, PMID:25983621, PMID:26156051, PMID:26206375, PMID:26467025, PMID:26519892, PMID:26622071, PMID:26643207, PMID:26861945, PMID:26906304, PMID:26937392, PMID:27084087, PMID:27142713, PMID:27225395, PMID:27455001, PMID:27535533, PMID:27678445, PMID:27858369, PMID:27878435, PMID:27879219, PMID:27884173, PMID:28337550, PMID:28492532, PMID:28590052, PMID:28623566, PMID:28894950, PMID:29095540, PMID:29242796, PMID:29269672, PMID:29321515, PMID:29434128, PMID:30311386, PMID:2019602 RGD:1600872 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          xanthomatosis 3
            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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              lipid storage disease 465
                xanthomatosis 3
                  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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.