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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 lipoprotein lipase deficiency
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Accession:DOID:14118 term browser browse the term
Definition:A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. (DO)
Synonyms:exact_synonym: Burger Grutz Syndrome;   Burger-Grutz syndromes;   C-II Anapolipoproteinemia;   C-II anapolipoproteinemias;   Essential Familial Hyperlipemia;   Familial Chylomicronemia;   Familial Chylomicronemias;   Familial Fat Induced Hypertriglyceridemia;   Familial Fat-Induced Hypertriglyceridemias;   Familial Hyperchylomicronemia;   Familial Hyperchylomicronemias;   Familial Hyperlipoproteinemia Type 1;   Familial LPL Deficiencies;   Familial LPL Deficiency;   Fredrickson type I hyperlipoproteinemia;   Fredrickson type I lipaemia;   Hyperlipemia, Idiopathic, Burger-Grutz Type;   Hyperlipoproteinemia Type I;   Hyperlipoproteinemia Type Ia;   LIPD Deficiencies;   LIPD Deficiency;   LPL DEFICIENCY;   Lipase D Deficiencies;   Lipase D Deficiency;   Lipoprotein Lipase Deficiencies;   Lipoprotein Lipase Deficiency;   essential familial hyperlipemias;   familial chylomiconemia syndrome;   familial hyperlipoproteinemia type I;   hypercholesterinaemic xanthomatosis;   hyperchylomicronemia;   hyperlipoproteinemias type I;   hyperlipoproteinemias type Ia;   mixed hyperglyceridemia
 primary_id: MESH:D008072
 alt_id: OMIM:238600
 xref: GARD:12241;   ICD10CM:E78.3;   ICD9CM:272.3;   NCI:C84771;   ORDO:309015
For additional species annotation, visit the Alliance of Genome Resources.



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familial lipoprotein lipase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
JBrowse link
G Apoc2 apolipoprotein C2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD
ClinVar
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Lpl lipoprotein lipase ISO
ISS
DNA:missense mutation:exon:p.D156G (human)
ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
CTD Direct Evidence: marker/mechanism
OMIM:238600
ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... RGD:1580533, RGD:1302536, RGD:1556752 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21478160 PMID:21816778 More... NCBI chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702
JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    Nutritional and Metabolic Diseases 8230
      disease of metabolism 8230
        lipid metabolism disorder 1732
          familial hyperlipidemia 362
            Hyperlipoproteinemias 71
              familial lipoprotein lipase deficiency 4
                Familial Hyperchylomicronemia Syndrome 1
                familial GPIHBP1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 21147
    Developmental Disease 18462
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18323
        genetic disease 18267
          inherited metabolic disorder 6206
            lipid metabolism disorder 1732
              Dyslipidemias 395
                familial hyperlipidemia 362
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 4
                      Familial Hyperchylomicronemia Syndrome 1
                      familial GPIHBP1 deficiency 1
paths to the root