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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:Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B
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Accession:DOID:9000699 term browser browse the term
Synonyms:exact_synonym: Apolipoprotein B 100, Familial Ligand Defective;   apolipoprotein B 100, familial defective;   hypercholesterolemia due to arg3500 mutation of Apo B-100
 primary_id: MESH:C536083
 alt_id: RDO:0001510

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Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936627:33,350...57,231
Ensembl chrNW_004936627:33,350...57,166 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:174884 PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 More... NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:7616128 PMID:7709162 PMID:9039985 PMID:9259195 PMID:9654205 More... NCBI chrNW_004936659:1,259,405...1,300,545
Ensembl chrNW_004936659:1,259,369...1,302,294 		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
                Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B 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 5214
            lipid metabolism disorder 1484
              Dyslipidemias 269
                familial hyperlipidemia 242
                  Hyperlipoproteinemias 65
                    Hyperlipoproteinemia Type II 59
                      familial hypercholesterolemia 47
                        Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B 3
paths to the root