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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:familial hypercholesterolemia
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Accession:DOID:13810 term browser browse the term
Definition:A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)
Synonyms:exact_synonym: FH;   FHC;   FHCL1;   Fredrickson type IIa hyperlipoproteinemia;   Fredrickson type IIa lipidaemia;   HYPERCHOLESTEROLEMIA, FAMILIAL, 1;   HYPERCHOLESTEROLEMIC XANTHOMATOSES, FAMILIAL;   HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL;   familial hyperbetalipoproteinaemia;   familial hypercholesteremia;   familial hypercholesterolemias;   hyperbetalipoproteinemia;   type II hyperlipidemia
 narrow_synonym: LDL RECEPTOR DISORDER
 primary_id: OMIM:143890
 alt_id: OMIA:000499
 xref: GARD:10416;   ICD10CM:E78.01;   NCI:C34704;   OMIM:PS143890;   ORDO:406
For additional species annotation, visit the Alliance of Genome Resources.



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familial hypercholesterolemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492
JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:12522687 NCBI chr 4:89,237,514...89,239,126
Ensembl chr 4:89,237,511...89,240,319
JBrowse link
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G C2H19orf38 chromosome 2 C19orf38 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 2:69,584,550...69,600,760
Ensembl chr 2:69,585,883...69,600,756
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 2:69,602,121...69,644,862
Ensembl chr 2:69,602,136...69,644,854
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424
JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,854...69,972,316
JBrowse link
G EPHX2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr14:11,217,125...11,293,018
Ensembl chr14:11,216,978...11,293,410
JBrowse link
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:12910492 PMID:17462934 PMID:25741868 More... NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:26,470,422...26,558,892 JBrowse link
G ITPRID1 ITPR interacting domain containing 1 ISO OMIM NCBI chr18:41,428,527...41,474,647
Ensembl chr18:41,456,829...41,589,002
JBrowse link
G LDLR low density lipoprotein receptor ISO
IAGP
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
Hypercholesterolaemia
OMIM
ClinVar
OMIA
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:4351242 PMID:11326085 PMID:12016260 PMID:12464675 PMID:12788851 More... NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377
JBrowse link
G MIR199A-2 microRNA mir-199a-2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 2:69,558,051...69,558,130
Ensembl chr 2:69,558,050...69,558,131
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 PMID:12175777 More... NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:1998642 PMID:25741868 PMID:28492532 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
JBrowse link
G STAP1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr 8:65,318,861...65,372,838
Ensembl chr 8:65,332,522...65,392,965
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 2:69,649,670...69,652,369
Ensembl chr 2:69,649,712...69,652,362
JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 2:69,573,128...69,576,421
Ensembl chr 2:69,568,354...69,576,066
JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 2:69,644,000...69,649,691
Ensembl chr 2:69,641,052...69,649,824
JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUNIP aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,276,977...83,316,642
Ensembl chr 6:83,272,788...83,316,418
JBrowse link
G CATSPER4 cation channel sperm associated 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,607,607...83,627,860
Ensembl chr 6:83,609,349...83,627,855
JBrowse link
G CD52 CD52 molecule ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,723,762...83,725,619
Ensembl chr 6:83,723,756...83,726,912
JBrowse link
G CEP85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,651,011...83,689,074
Ensembl chr 6:83,651,017...83,686,441
JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,598,363...83,608,617
Ensembl chr 6:83,598,372...83,608,607
JBrowse link
G CRYBG2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,726,964...83,757,461
Ensembl chr 6:83,726,964...83,757,527
JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,823,262...83,855,101
Ensembl chr 6:83,823,229...83,857,092
JBrowse link
G EXTL1 exostosin like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,461,421...83,476,601
Ensembl chr 6:83,462,323...83,476,596
JBrowse link
G FAM110D family with sequence similarity 110 member D ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,581,341...83,584,444
Ensembl chr 6:83,581,362...83,584,444
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 OMIM
ClinVar
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 6:83,030,629...83,054,387
Ensembl chr 6:83,030,702...83,054,377
JBrowse link
G LIN28A lin-28 homolog A ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,806,178...83,818,550
Ensembl chr 6:83,806,056...83,818,633
JBrowse link
G MAN1C1 mannosidase alpha class 1C member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,089,942...83,228,648
Ensembl chr 6:83,089,072...83,228,008
JBrowse link
G MTFR1L mitochondrial fission regulator 1 like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,265,351...83,277,774
Ensembl chr 6:83,265,420...83,280,250
JBrowse link
G PAFAH2 platelet activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,413,513...83,446,967
Ensembl chr 6:83,411,553...83,446,834
JBrowse link
G PAQR7 progestin and adipoQ receptor family member 7 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,318,408...83,329,567
Ensembl chr 6:83,318,411...83,329,639
JBrowse link
G PDIK1L PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,542,734...83,561,244
Ensembl chr 6:83,543,780...83,554,864
JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,246,934...83,262,748
Ensembl chr 6:83,246,934...83,262,743
JBrowse link
G SH3BGRL3 SH3 domain binding glutamate rich protein like 3 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,687,473...83,689,076
Ensembl chr 6:83,687,604...83,689,565
JBrowse link
G SLC30A2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,478,761...83,484,876
Ensembl chr 6:83,477,759...83,484,688
JBrowse link
G STMN1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,356,404...83,362,546
Ensembl chr 6:83,356,412...83,362,500
JBrowse link
G TRIM63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,493,200...83,507,471
Ensembl chr 6:83,492,633...83,507,502
JBrowse link
G UBXN11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,688,709...83,714,516
Ensembl chr 6:83,686,391...83,714,439
JBrowse link
G ZNF593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,590,840...83,593,284
Ensembl chr 6:83,590,895...83,593,278
JBrowse link
G ZNF683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 6:83,756,865...83,765,905
Ensembl chr 6:83,758,979...83,765,855
JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1793440 More... NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 OMIM
ClinVar
PMID:9536098 PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 More... NCBI chr 6:157,388,370...157,409,620
Ensembl chr 6:157,388,372...157,409,551
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    Nutritional and Metabolic Diseases 5656
      disease of metabolism 5656
        lipid metabolism disorder 975
          familial hyperlipidemia 196
            Hypercholesterolemia 109
              familial hypercholesterolemia 47
                Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B 1
                Hypercholesterolemia, Autosomal Dominant, 3 3
                autosomal recessive hypercholesterolemia 24
Path 2
Term Annotations click to browse term
  disease 14500
    Developmental Disease 11816
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10610
        genetic disease 10159
          inherited metabolic disorder 3938
            lipid metabolism disorder 975
              Dyslipidemias 223
                familial hyperlipidemia 196
                  Hyperlipoproteinemias 63
                    Hyperlipoproteinemia Type II 58
                      familial hypercholesterolemia 47
                        Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B 1
                        Hypercholesterolemia, Autosomal Dominant, 3 3
                        autosomal recessive hypercholesterolemia 24
paths to the root