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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 GPIHBP1 deficiency
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Accession:DOID:0111420 term browser browse the term
Definition:A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3. (DO)
Synonyms:exact_synonym: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency;   hyperlipoproteinemia type 1D;   hyperlipoproteinemia type ID
 primary_id: OMIM:615947
 xref: ORDO:535458
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr 7:116,632,496...116,635,543
Ensembl chr 7:116,632,506...116,634,293
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          familial hyperlipidemia 267
            Hyperlipoproteinemias 34
              familial GPIHBP1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Dyslipidemias 291
                familial hyperlipidemia 267
                  familial chylomicronemia syndrome 5
                    familial lipoprotein lipase deficiency 4
                      familial GPIHBP1 deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.