Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:familial combined hyperlipidemia
go back to main search page
Accession:DOID:13809 term browser browse the term
Definition:A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.
Synonyms:exact_synonym: FCHL;   familial combined hyperlipidemias;   familial multiple lipoprotein-type hyperlipidemia;   hyperbetalipoproteinemia with prebetalipoproteinemia;   mixed hyperlipidaemia;   multiple lipoprotein-type hyperlipidemia;   multiple lipoprotein-type hyperlipidemias;   type IIb hyperlipoproteinemia
 primary_id: MESH:D006950
 alt_id: OMIM:144250;   RDO:0005842
 xref: ICD10CM:E78.4;   NCI:C35637
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
familial combined hyperlipidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Add1 adducin 1 JBrowse link 14 81,367,466 81,426,610 RGD:1559299
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:1601173
G Apoa2 apolipoprotein A2 JBrowse link 13 89,596,872 89,598,805 RGD:1300287
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:1601200
RGD:8554872
G Apoc3 apolipoprotein C3 JBrowse link 8 50,529,318 50,531,498 RGD:1601225
RGD:5685676
RGD:5685674
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:1601231
RGD:1578481
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:11554173
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:12904697
G Lipc lipase C, hepatic type JBrowse link 8 77,272,582 77,398,485 RGD:1580512
G Lpl lipoprotein lipase JBrowse link 16 22,537,687 22,561,487 RGD:7240710
RGD:8554872
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:1580689
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13207412
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:1601645
G Usf1 upstream transcription factor 1 JBrowse link 13 89,797,750 89,805,561 RGD:11554173
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:13207412
Hyperlipidemia, Combined, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Usf1 upstream transcription factor 1 JBrowse link 13 89,797,750 89,805,561 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          familial combined hyperlipidemia 15
            Hyperlipidemia, Combined, 1 1
            Hyperlipidemia, Combined, 2 0
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lipid metabolism disorder 741
              Dyslipidemias 282
                familial hyperlipidemia 261
                  familial combined hyperlipidemia 15
                    Hyperlipidemia, Combined, 1 1
                    Hyperlipidemia, Combined, 2 0
paths to the root

NHLBI Logo

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