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
Accession: DOID:0090105
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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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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 5:146,722,329...146,734,924
Ensembl chr 5:146,722,337...146,736,501
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Catsper4
cation channel, sperm associated 4
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,427,682...146,447,346
Ensembl chr 5:146,427,683...146,446,942
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Cd52
CD52 molecule
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,319,789...146,321,348
Ensembl chr 5:146,319,969...146,321,348
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Cep85
centrosomal protein 85
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,356,571...146,404,155
Ensembl chr 5:146,356,576...146,404,060
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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 5:146,447,495...146,458,332
Ensembl chr 5:146,447,497...146,458,212
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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 5:146,286,406...146,318,417
Ensembl chr 5:146,286,925...146,323,666
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Dhdds
dehydrodolichyl diphosphate synthase subunit
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
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Extl1
exostosin-like glycosyltransferase 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115
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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 5:146,471,048...146,474,019
Ensembl chr 5:146,471,049...146,474,056
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Ldlrap1
low density lipoprotein receptor adaptor protein 1
ISO ISS
OMIM:603813 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 MouseDO ClinVar
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 PMID:12016260 PMID:12464675 PMID:12535754 PMID:12788851 PMID:12958143 PMID:14717060 PMID:15485476 PMID:15599766 PMID:16199547 PMID:17576681 PMID:20124734 PMID:21872251 PMID:22157599 PMID:23510778 PMID:24033266 PMID:24448499 PMID:25647241 PMID:25670367 PMID:25741868 PMID:25911074 PMID:26723464 PMID:27247956 PMID:28353356 PMID:28492532 PMID:28958330 PMID:28964736 PMID:28965616 PMID:29153781 PMID:29245109 PMID:29396260 PMID:30318064 PMID:31589614 PMID:32041611 PMID:32636080 PMID:32770674 PMID:32878475 PMID:33111339 PMID:33116287 PMID:33994332 PMID:34037665 PMID:34389451 PMID:34756585 PMID:35047021 More...
NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
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Lin28a
lin-28 homolog A
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,227,119...146,244,122
Ensembl chr 5:146,227,119...146,244,122
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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 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421
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Mtfr1l
mitochondrial fission regulator 1-like
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,736,927...146,746,891
Ensembl chr 5:146,736,927...146,746,784
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Pafah2
platelet-activating factor acetylhydrolase 2
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,607,050...146,636,203
Ensembl chr 5:146,613,498...146,634,943
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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 5:146,709,159...146,720,577
Ensembl chr 5:146,708,900...146,720,673
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Pdik1l
PDLIM1 interacting kinase 1 like
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,495,115...146,507,363
Ensembl chr 5:146,495,115...146,506,835
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Selenon
selenoprotein N
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
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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 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331
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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 5:146,559,733...146,571,957
Ensembl chr 5:146,559,733...146,571,956
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Stmn1
stathmin 1
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154
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Trim63
tripartite motif containing 63
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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Ubxn11
UBX domain protein 11
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526
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Zfp593
zinc finger protein 593
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,462,670...146,464,998
Ensembl chr 5:146,462,670...146,465,198
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Zfp683
zinc finger protein 683
ISO
ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4
ClinVar
PMID:11326085 PMID:12464675 PMID:28492532
NCBI chr 5:146,277,972...146,285,856
Ensembl chr 5:146,278,978...146,285,000
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