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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 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
G APOA2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:12522687 NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959
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 chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G C19H19orf38 chromosome 19 C19orf38 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,390,158...10,423,117
Ensembl chr19:11,123,539...11,142,641
JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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 chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
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 chr 8:26,761,090...26,818,436
Ensembl chr 8:23,964,094...24,017,749
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 chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G GK glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:23,250,290...23,327,373
Ensembl chr  X:30,806,950...30,877,131
JBrowse link
G LDLR low density lipoprotein receptor ISO 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
OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr19:10,640,225...10,683,728
Ensembl chr19:11,357,311...11,396,791
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 1:24,809,535...24,852,394
Ensembl chr 1:25,878,358...25,903,336
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 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456
JBrowse link
G PON2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 ISO OMIM NCBI chr 7:32,296,330...32,317,606
Ensembl chr 7:32,413,485...32,434,886
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
G STAP1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr 4:56,442,773...56,491,148
Ensembl chr 4:62,836,288...62,882,570
JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,482,351...10,483,890 JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,386,041...10,389,905
Ensembl chr19:11,107,511...11,111,744
JBrowse link
G YIPF2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr19:10,475,806...10,482,352
Ensembl chr19:11,195,562...11,203,248
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 1:25,090,690...25,118,062
Ensembl chr 1:26,157,953...26,185,578
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 1:25,451,655...25,464,069
Ensembl chr 1:26,518,287...26,531,263
JBrowse link
G CD52 CD52 molecule ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,578,073...25,581,442
Ensembl chr 1:26,647,260...26,649,876
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 1:25,495,228...25,539,857
Ensembl chr 1:26,562,744...26,607,852
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 1:25,438,092...25,450,953
Ensembl chr 1:26,505,513...26,517,225
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 1:25,582,532...25,615,411
Ensembl chr 1:26,651,324...26,675,481
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 1:25,696,229...25,735,319
Ensembl chr 1:26,760,535...26,799,049
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 1:25,280,371...25,295,083
Ensembl chr 1:26,346,391...26,361,118
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 1:25,420,411...25,424,036 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 1:24,809,535...24,852,394
Ensembl chr 1:25,878,358...25,903,336
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 1:25,674,751...25,693,684
Ensembl chr 1:26,739,268...26,758,028
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 1:24,877,014...25,044,891
Ensembl chr 1:25,943,949...26,110,456
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 1:25,078,463...25,091,546
Ensembl chr 1:26,145,924...26,158,980
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 1:25,218,632...25,256,751
Ensembl chr 1:26,284,649...26,323,031
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 1:25,119,805...25,134,395
Ensembl chr 1:26,188,822...26,189,862
Ensembl chr 1:26,188,822...26,189,862
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 1:25,372,456...25,386,811
Ensembl chr 1:26,439,485...26,453,376
JBrowse link
G SELENON selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,058,907...25,076,817
Ensembl chr 1:26,127,125...26,141,745
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 1:25,540,781...25,542,558 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 1:25,296,643...25,304,751
Ensembl chr 1:26,359,575...26,370,803
JBrowse link
G STMN1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 1:25,159,241...25,165,535
Ensembl chr 1:26,208,731...26,230,925
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 1:25,309,949...25,373,658
Ensembl chr 1:26,378,373...26,392,041
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 1:25,543,314...25,567,655
Ensembl chr 1:26,608,439...26,636,016
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 1:25,430,971...25,431,964
Ensembl chr 1:26,497,845...26,498,847
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 1:25,622,548...25,636,106
Ensembl chr 1:26,690,359...26,703,755
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 chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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 chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
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 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14685
    Nutritional and Metabolic Diseases 5620
      disease of metabolism 5620
        lipid metabolism disorder 953
          familial hyperlipidemia 197
            Hypercholesterolemia 107
              familial hypercholesterolemia 46
                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 14685
    Developmental Disease 11953
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10737
        genetic disease 10279
          inherited metabolic disorder 3896
            lipid metabolism disorder 953
              Dyslipidemias 224
                familial hyperlipidemia 197
                  Hyperlipoproteinemias 63
                    Hyperlipoproteinemia Type II 58
                      familial hypercholesterolemia 46
                        Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B 1
                        Hypercholesterolemia, Autosomal Dominant, 3 3
                        autosomal recessive hypercholesterolemia 24
paths to the root