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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:An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.
Synonyms:exact_synonym: Burger Grutz Syndrome;   Burger-Grutz syndromes;   C-II Anapolipoproteinemia;   C-II anapolipoproteinemias;   Essential Familial Hyperlipemia;   Essential Familial Hyperlipemias;   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;   Type Ia Hyperlipoproteinemias;   familial chylomiconemia syndrome;   familial hyperlipoproteinemia type I;   hypercholesterinaemic xanthomatosis;   hyperchylomicronemia;   hyperlipoproteinemias type I;   mixed hyperglyceridemia
 primary_id: MESH:D008072
 alt_id: OMIM:238600;   RDO:0002548
 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 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by OMIM:207750
ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE IB
ClinVar
CTD
PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 PMID:2477392 PMID:2592354 PMID:3192518 PMID:3225819 PMID:3263393 PMID:3467353 PMID:3680515 PMID:3944267 PMID:3944271 PMID:7815420 PMID:7923858 PMID:8323539 PMID:8490626 PMID:12783430 PMID:25741868 PMID:28492532 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I
ClinVar Annotator: match by term: Hyperlipemia essential familial
ClinVar Annotator: match by OMIM:238600
DNA:missense mutation:exon:p.D156G (human)
ClinVar
OMIM
PMID:1351946 PMID:1400331 PMID:1479292 PMID:1505655 PMID:1511985 PMID:1512512 PMID:1530621 PMID:1562620 PMID:1576758 PMID:1598907 PMID:1639392 PMID:1674945 PMID:1702428 PMID:1731801 PMID:1737848 PMID:1752947 PMID:1872917 PMID:1907278 PMID:1937490 PMID:1969408 PMID:1975597 PMID:2010533 PMID:2038366 PMID:2110364 PMID:2121025 PMID:2294743 PMID:2349938 PMID:2394828 PMID:2536938 PMID:2914262 PMID:6645961 PMID:7647785 PMID:7818530 PMID:7906986 PMID:8096693 PMID:8099055 PMID:8135797 PMID:8199176 PMID:8228642 PMID:8288243 PMID:8325986 PMID:8486765 PMID:8541837 PMID:8567671 PMID:8843465 PMID:8858123 PMID:8872057 PMID:9225235 PMID:9401010 PMID:9714430 PMID:10364086 PMID:10407505 PMID:10517255 PMID:10735636 PMID:11134145 PMID:11334614 PMID:11893776 PMID:15840743 PMID:15877202 PMID:16174715 PMID:16972177 PMID:17717288 PMID:18068174 PMID:18350203 PMID:18649389 PMID:21146168 PMID:21159338 PMID:22095987 PMID:22129523 PMID:22239554 PMID:23246289 PMID:23484243 PMID:24033266 PMID:24212298 PMID:24291057 PMID:24793350 PMID:25741868 PMID:25966443 PMID:26342331 PMID:27055971 PMID:27573733 PMID:28438574 PMID:28492532 PMID:28606150 PMID:29153744 PMID:29288010 PMID:29748148 PMID:30150141 PMID:30311386, PMID:16431216, PMID:1907278, PMID:9973300 RGD:1580533, RGD:1302536, RGD:1556752 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
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 ID ClinVar
OMIM
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21816778 PMID:22239554 PMID:23806086 PMID:24088041 PMID:24614124 PMID:24847059 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr 7:116,632,496...116,635,543
Ensembl chr 7:116,632,506...116,634,293
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:1562620 PMID:1576758 PMID:1598907 PMID:1731801 PMID:1737848 PMID:1907278 PMID:10735636 PMID:16174715 PMID:23246289 PMID:25741868 PMID:30311386 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        lipid metabolism disorder 908
          familial hyperlipidemia 268
            Hyperlipoproteinemias 34
              familial lipoprotein lipase deficiency 4
                Familial Hyperchylomicronemia Syndrome 1
                familial GPIHBP1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lipid metabolism disorder 908
              Dyslipidemias 292
                familial hyperlipidemia 268
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 4
                      Familial Hyperchylomicronemia Syndrome 1
                      familial GPIHBP1 deficiency 1
paths to the root