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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 AB124611 cDNA sequence AB124611 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,437,410...21,456,629
Ensembl chr 9:21,437,472...21,456,629
JBrowse link
G Abca1 ATP-binding cassette, sub-family A (ABC1), 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 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895
JBrowse link
G Apoa2 apolipoprotein A-II ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:12522687 NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948
JBrowse link
G Apob apolipoprotein B ISO DNA:deletion:promoter, exon:
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 Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... RGD:11527221 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,458,168...21,500,763
Ensembl chr 9:21,458,190...21,503,919
JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055
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 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931
JBrowse link
G Ephx2 epoxide hydrolase 2, cytoplasmic ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chr14:66,321,821...66,361,971
Ensembl chr14:66,321,823...66,361,949
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 chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974
JBrowse link
G Gk glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chr  X:84,745,543...84,820,425
Ensembl chr  X:84,745,543...84,820,425
JBrowse link
G Ldlr low density lipoprotein receptor ISO
IAGP
OMIM:143890
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
MouseDO
ClinVar
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215
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 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335
JBrowse link
G Mir199a-1 microRNA 199a-1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860
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 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chr 6:5,264,620...5,298,408
Ensembl chr 6:5,264,147...5,298,455
JBrowse link
G Ppp1r17 protein phosphatase 1, regulatory subunit 17 ISO OMIM NCBI chr 6:55,994,482...56,009,674
Ensembl chr 6:55,994,482...56,009,674
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chr 5:86,219,446...86,251,859
Ensembl chr 5:86,219,605...86,253,984
JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,504,018...21,507,266
Ensembl chr 9:21,504,018...21,507,266
JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,418,676...21,421,530
Ensembl chr 9:21,418,849...21,421,548
JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chr 9:21,499,978...21,504,131
Ensembl chr 9:21,499,978...21,504,124
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 4:134,238,310...134,251,233
Ensembl chr 4:134,238,310...134,251,238
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 4:133,939,276...133,954,743
Ensembl chr 4:133,939,281...133,954,694
JBrowse link
G Cd52 CD52 antigen ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,820,849...133,822,384
Ensembl chr 4:133,809,759...133,822,393
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 4:133,857,169...133,914,420
Ensembl chr 4:133,857,169...133,914,423
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 4:133,955,352...133,965,737
Ensembl chr 4:133,955,352...133,965,710
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 4:133,788,042...133,819,815
Ensembl chr 4:133,788,126...133,819,815
JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,696,339...133,728,267
Ensembl chr 4:133,696,339...133,728,229
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 4:134,083,684...134,099,893
Ensembl chr 4:134,083,683...134,111,161
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 4:133,978,413...133,993,528
Ensembl chr 4:133,978,421...133,981,417
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO
IAGP
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
OMIM:603813
OMIM
ClinVar
MouseDO
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chr 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335
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 4:133,730,641...133,746,504
Ensembl chr 4:133,730,641...133,746,152
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 4:134,289,001...134,432,987
Ensembl chr 4:134,289,001...134,431,601
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 4:134,252,866...134,262,698
Ensembl chr 4:134,252,861...134,262,698
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 4:134,123,631...134,154,723
Ensembl chr 4:134,123,631...134,154,724
JBrowse link
G Paqr7 progestin and adipoQ receptor family member VII ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,224,072...134,237,548
Ensembl chr 4:134,224,008...134,237,546
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 4:134,002,313...134,015,157
Ensembl chr 4:134,002,313...134,015,206
JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,265,203...134,279,477
Ensembl chr 4:134,265,203...134,279,477
JBrowse link
G Sh3bgrl3 SH3 domain binding glutamic acid-rich protein-like 3 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,854,717...133,856,044
Ensembl chr 4:133,854,717...133,856,100
JBrowse link
G Slc30a2 solute carrier family 30 (zinc transporter), member 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,070,357...134,081,795
Ensembl chr 4:134,070,492...134,081,795
JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:134,195,631...134,201,154
Ensembl chr 4:134,195,631...134,201,154
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 4:134,042,431...134,056,940
Ensembl chr 4:134,042,431...134,056,940
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 4:133,829,811...133,854,095
Ensembl chr 4:133,829,881...133,854,904
JBrowse link
G Zfp593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,970,617...133,972,902
Ensembl chr 4:133,970,600...133,972,903
JBrowse link
G Zfp683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chr 4:133,778,506...133,786,252
Ensembl chr 4:133,781,149...133,786,307
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 chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
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 chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480
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 4:106,299,531...106,321,522
Ensembl chr 4:106,299,526...106,321,526
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    Nutritional and Metabolic Diseases 5931
      disease of metabolism 5931
        lipid metabolism disorder 1027
          familial hyperlipidemia 207
            Hypercholesterolemia 112
              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 15283
    Developmental Disease 12333
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11065
        genetic disease 10598
          inherited metabolic disorder 4126
            lipid metabolism disorder 1027
              Dyslipidemias 234
                familial hyperlipidemia 207
                  Hyperlipoproteinemias 64
                    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