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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:autosomal recessive hypercholesterolemia
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Accession:DOID:0090105 term browser browse the term
Definition:A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. (DO)
Synonyms:exact_synonym: ARH;   ARH1;   ARH2;   FHCB1;   FHCB2;   FHCL4;   autosomal recessive hypercholesterolemia 1;   autosomal recessive hypercholesterolemia 2;   familial autosomal recessive hypercholesterolemia;   familial hypercholesterolemia 4
 primary_id: OMIM:603813
 xref: ICD10CM:E78.0;   NCI:C128114;   ORDO:391665

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show annotations for term's descendants           Sort by:
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 chrNW_004936474:10,409,463...10,430,158
Ensembl chrNW_004936474:10,409,022...10,430,187 		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 chrNW_004936474:10,707,630...10,719,367
Ensembl chrNW_004936474:10,707,630...10,719,248 		JBrowse link
G Cep85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,747,025...10,775,959
Ensembl chrNW_004936474:10,747,839...10,775,630 		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 chrNW_004936474:10,697,777...10,706,988
Ensembl chrNW_004936474:10,699,819...10,706,591 		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 chrNW_004936474:10,822,846...10,840,167
Ensembl chrNW_004936474:10,822,852...10,845,422 		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 chrNW_004936474:10,914,018...10,949,138
Ensembl chrNW_004936474:10,913,903...10,950,095 		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 chrNW_004936474:10,568,649...10,580,597
Ensembl chrNW_004936474:10,568,603...10,580,632 		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 chrNW_004936474:10,682,107...10,685,721
Ensembl chrNW_004936474:10,683,979...10,685,074 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4		 OMIM
ClinVar		 PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chrNW_004936474:10,196,228...10,219,137
Ensembl chrNW_004936474:10,196,211...10,221,777 		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 chrNW_004936474:10,896,153...10,909,247 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 chrNW_004936474:10,297,853...10,367,166 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 chrNW_004936474:10,398,656...10,410,261
Ensembl chrNW_004936474:10,398,208...10,413,622 		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 chrNW_004936474:10,523,605...10,554,868
Ensembl chrNW_004936474:10,520,184...10,554,840 		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 chrNW_004936474:10,431,810...10,434,004
Ensembl chrNW_004936474:10,432,769...10,433,806 		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 chrNW_004936474:10,641,399...10,650,638
Ensembl chrNW_004936474:10,641,399...10,650,754 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,381,646...10,396,638
Ensembl chrNW_004936474:10,381,743...10,394,502 		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 chrNW_004936474:10,776,700...10,778,299
Ensembl chrNW_004936474:10,776,725...10,778,299 		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 chrNW_004936474:10,581,504...10,589,364
Ensembl chrNW_004936474:10,581,480...10,589,442 		JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,470,006...10,475,557
Ensembl chrNW_004936474:10,468,728...10,475,594 		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 chrNW_004936474:10,598,571...10,610,197
Ensembl chrNW_004936474:10,598,561...10,633,001 		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 chrNW_004936474:10,778,367...10,800,805
Ensembl chrNW_004936474:10,778,990...10,797,617 		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 chrNW_004936474:10,691,090...10,692,517
Ensembl chrNW_004936474:10,691,252...10,694,734 		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 chrNW_004936474:10,851,249...10,859,092 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        lipid metabolism disorder 1484
          familial hyperlipidemia 242
            Hypercholesterolemia 111
              familial hypercholesterolemia 47
                autosomal recessive hypercholesterolemia 23
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            lipid metabolism disorder 1484
              Dyslipidemias 269
                familial hyperlipidemia 242
                  Hyperlipoproteinemias 65
                    Hyperlipoproteinemia Type II 59
                      familial hypercholesterolemia 47
                        autosomal recessive hypercholesterolemia 23
paths to the root