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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:hypolipoproteinemia
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Accession:DOID:1387 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. (DO)
Synonyms:exact_synonym: hypolipoproteinaemia;   hypolipoproteinemias;   hypoprebetalipoproteinemia
 related_synonym: Lipoprotein deficiencies;   liipoprotein deficiencies
 primary_id: MESH:D007009
 xref: GARD:8394;   ICD9CM:272.5
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hypolipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G LPA lipoprotein(a) ISO CTD Direct Evidence: marker/mechanism CTD PMID:10484779 NCBI chr 6:158,434,394...158,628,028 JBrowse link
abetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency OMIM
ClinVar		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:25741868 PMID:28492532 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312 		JBrowse link
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107 		JBrowse link
chylomicron retention disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Chylomicron retention disease ClinVar PMID:25741868 PMID:27469900 NCBI chr 6:24,001,971...24,186,530
Ensembl chr 6:24,337,188...24,520,082 		JBrowse link
G PITPNA phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chr17:1,500,900...1,545,643
Ensembl chr17:1,404,137...1,440,224 		JBrowse link
G SAR1B secretion associated Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells OMIM
ClinVar		 PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr 5:130,008,941...130,035,785
Ensembl chr 5:136,157,408...136,181,967 		JBrowse link
familial hypobetalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic OMIM
ClinVar		 PMID:174884 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 More... NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
familial hypobetalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL3 angiopoietin like 3 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 OMIM
ClinVar		 PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 1:61,855,870...61,863,476
Ensembl chr 1:63,670,516...63,679,194 		JBrowse link
G APOB apolipoprotein B ISO OMIM:605019 MouseDO NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 ClinVar PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 More... NCBI chr 1:61,713,217...61,946,371
Ensembl chr 1:63,529,227...63,740,970 		JBrowse link
Familial Hypobetalipoproteinemia, Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2567736 PMID:2843815 PMID:3473077 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G MTTP microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Apolipoprotein B deficiency ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... NCBI chr 4:91,987,756...92,047,127
Ensembl chr 4:102,648,793...102,708,107 		JBrowse link
Hypoalphalipoproteinemias term browser
Symbol Object Name Qualifiers 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 hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease		 ClinVar PMID:7945562 PMID:10431236 PMID:10431237 PMID:10706591 PMID:10938021 More... NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY ClinVar PMID:1901417 PMID:2108924 PMID:2123470 PMID:3141894 PMID:3142462 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G LOC100972546 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease ClinVar PMID:16429166 PMID:23139370 PMID:25215231 PMID:28492532 NCBI chr 9:75,931,560...75,941,825 JBrowse link
hypobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B susceptibility ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia RGD
ClinVar		 PMID:174884 PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 More... RGD:1599164 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129 		JBrowse link
G APOC2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr19:41,892,954...41,896,461 JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia		 ClinVar PMID:11668641 PMID:12175777 PMID:12730697 PMID:14727156 PMID:15358785 More... NCBI chr 1:54,323,036...54,355,397
Ensembl chr 1:55,911,016...55,936,456 		JBrowse link
Norum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) ClinVar PMID:6489332 PMID:7082443 PMID:28492532 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: LCAT-related condition | ClinVar Annotator: match by term: Norum disease OMIM
ClinVar		 PMID:1516702 PMID:1571050 PMID:1588268 PMID:1662503 PMID:1681161 More... NCBI chr16:48,278,137...48,285,305
Ensembl chr16:67,668,646...67,673,127 		JBrowse link
G SLC12A4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency ClinVar PMID:1571050 PMID:1662503 PMID:7613477 PMID:9541390 PMID:9741700 More... NCBI chr16:48,285,265...48,309,614
Ensembl chr16:67,673,087...67,697,280 		JBrowse link
primary hypoalphalipoproteinemia 1 term browser
Symbol Object Name Qualifiers 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: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 OMIM
ClinVar		 PMID:7945562 PMID:10431236 PMID:10431237 PMID:10706591 PMID:10938021 More... NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:8240372 PMID:17303779 PMID:20884842 PMID:21443680 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G LOC100972546 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:12009425 PMID:12054535 PMID:15262183 PMID:15935359 PMID:16429166 More... NCBI chr 9:75,931,560...75,941,825 JBrowse link
primary hypoalphalipoproteinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate OMIM
ClinVar		 PMID:1901417 PMID:2108924 PMID:2123470 PMID:2506176 PMID:2512329 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein A-I deficiency ClinVar PMID:2506176 PMID:6800349 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460 		JBrowse link
Tangier disease term browser
Symbol Object Name Qualifiers 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: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease OMIM
ClinVar		 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 PMID:10938021 More... NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Tangier disease ClinVar PMID:7583566 PMID:7981179 PMID:8282791 PMID:25341944 PMID:25741868 More... NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G LOC100972546 protein NipSnap homolog 3B ISO ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease ClinVar PMID:11476965 PMID:15935359 PMID:16429166 PMID:18199144 PMID:22923420 More... NCBI chr 9:75,931,560...75,941,825 JBrowse link
Wolman Disease with Hypolipoproteinemia and Acanthocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 More... NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        lipid metabolism disorder 1556
          hypolipoproteinemia 20
            Hypoalphalipoproteinemias + 7
            Norum disease 3
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 1
            abetalipoproteinemia + 3
            hypobetalipoproteinemia + 11
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            lipid metabolism disorder 1556
              Dyslipidemias 280
                hypolipoproteinemia 20
                  Hypoalphalipoproteinemias + 7
                  Norum disease 3
                  Wolman Disease with Hypolipoproteinemia and Acanthocytosis 1
                  abetalipoproteinemia + 3
                  hypobetalipoproteinemia + 11
paths to the root