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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:hypobetalipoproteinemia
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Accession:DOID:1390 term browser browse the term
Definition:A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. (DO)
Synonyms:exact_synonym: FHBL;   familial hypobetalipoproteinemia;   hypo beta lipoproteinemia;   hypo beta lipoproteinemias;   hypobetalipoproteinemias
 primary_id: MESH:D006995
For additional species annotation, visit the Alliance of Genome Resources.

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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 chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:decreased expression:plasma RGD PMID:2242096 RGD:1601212 NCBI chrNW_004936706:1,531,219...1,531,921 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 chrNW_004936522:6,271,339...6,300,202
Ensembl chrNW_004936522:6,272,507...6,299,917 		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 chrNW_004936520:3,337,726...3,417,818
Ensembl chrNW_004936520:3,338,881...3,381,627 		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 chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876 		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 chrNW_004936520:3,337,726...3,417,818
Ensembl chrNW_004936520:3,338,881...3,381,627 		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 chrNW_004936671:605,114...736,217
Ensembl chrNW_004936671:605,084...736,674 		JBrowse link
G Pitpna phosphatidylinositol transfer protein alpha ISO OMIM:246700 MouseDO NCBI chrNW_004936538:7,663,457...7,704,484
Ensembl chrNW_004936538:7,667,162...7,704,315 		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 chrNW_004936647:697,930...723,577 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 chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		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 chrNW_004936692:286,432...295,021
Ensembl chrNW_004936692:286,717...294,822 		JBrowse link
G Apob apolipoprotein B ISO OMIM:605019 MouseDO NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		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 chrNW_004936692:161,979...354,028
Ensembl chrNW_004936692:162,390...353,721 		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 chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		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 chrNW_004936520:3,337,726...3,417,818
Ensembl chrNW_004936520:3,338,881...3,381,627 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6781
      disease of metabolism 6781
        lipid metabolism disorder 1484
          hypolipoproteinemia 17
            hypobetalipoproteinemia 10
              Familial Hypobetalipoproteinemia, Apolipoprotein B + 2
              Nguyen Syndrome 0
              abetalipoproteinemia + 2
              chylomicron retention disease 3
              familial hypobetalipoproteinemia 1 1
              familial hypobetalipoproteinemia 2 3
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 5212
            lipid metabolism disorder 1484
              Dyslipidemias 269
                hypolipoproteinemia 17
                  hypobetalipoproteinemia 10
                    Familial Hypobetalipoproteinemia, Apolipoprotein B + 2
                    Nguyen Syndrome 0
                    abetalipoproteinemia + 2
                    chylomicron retention disease 3
                    familial hypobetalipoproteinemia 1 1
                    familial hypobetalipoproteinemia 2 3
paths to the root