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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.



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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 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:9931341 RGD:734583 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:macrophage RGD PMID:17322100 RGD:1625405 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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 DNA:missense mutations:cds:multiple (human)
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: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
RGD
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 PMID:8533758 More... RGD:1581045, RGD:1581043, RGD:1581044 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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:8071315 PMID:8533758 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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 chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
JBrowse link
G Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:60,430,712...60,473,564
Ensembl chr10:60,430,748...60,471,342
JBrowse link
G Sar1b secretion associated, Ras related GTPase 1B ISO ClinVar Annotator: match by term: Chylomicron retention disease OMIM
ClinVar
PMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 More... NCBI chr10:36,024,443...36,054,067
Ensembl chr10:36,024,382...36,054,066
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: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 OMIM
ClinVar
PMID:1360085 PMID:1424233 PMID:1431583 PMID:1466657 PMID:1493642 More... NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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 NCBI chr 5:113,703,007...113,710,044
Ensembl chr 5:113,703,012...113,709,957
JBrowse link
G Apob apolipoprotein B ISS OMIM:605019 MouseDO NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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 NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
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 chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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:8071315 PMID:8533758 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
CTD
ClinVar
PMID:10431237 PMID:18776170 PMID:19202195 PMID:21860089 PMID:23559627 More... NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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 protein:decreased expression:plasma
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar
RGD
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... RGD:1601203, RGD:1599164 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO DNA:insertion:cds:c.43_44CTG (human)
ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia
ClinVar
RGD
PMID:11668641 PMID:11941481 PMID:12175777 PMID:12730697 PMID:14727156 More... RGD:1580999 NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688
JBrowse link
Norum disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: Norum disease ClinVar
OMIM
RGD
PMID:1516702 PMID:1571050 PMID:1662503 PMID:1681161 PMID:1737840 More... RGD:1581778 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease ClinVar PMID:1571050 NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
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 DNA:mutations: :
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
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:7945562 PMID:10431236 PMID:10431237 PMID:10706591 PMID:10938021 More... RGD:1298571 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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 chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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: APOLIPOPROTEIN A-I (BALTIMORE) | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 OMIM
ClinVar
PMID:1901417 PMID:2108924 PMID:2506176 PMID:2512329 PMID:6800349 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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: Tangier disease
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
OMIM
RGD
PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 PMID:10938021 More... RGD:1600951, RGD:19165130, RGD:1298571 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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:8282791 PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        lipid metabolism disorder 1146
          hypolipoproteinemia 15
            Hypoalphalipoproteinemias + 4
            Norum disease 2
            Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
            abetalipoproteinemia + 2
            hypobetalipoproteinemia + 10
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            lipid metabolism disorder 1146
              Dyslipidemias 338
                hypolipoproteinemia 15
                  Hypoalphalipoproteinemias + 4
                  Norum disease 2
                  Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
                  abetalipoproteinemia + 2
                  hypobetalipoproteinemia + 10
paths to the root