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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 hypobetalipoproteinemia 1
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Accession:DOID:0111062 term browser browse the term
Definition:A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)
Synonyms:exact_synonym: Acanthocytosis with Hypobetalipoproteinemia;   FHBL1;   Hypobetalipoproteinemia, Normotriglyceridemic
 narrow_synonym: Hypobetalipoproteinemia, familial, associated with apob32
 broad_synonym: APOB-RELATED CONDITION;   APOB-RELATED DISORDER
 primary_id: MESH:C566267
 alt_id: OMIM:615558;   RDO:0014668


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familial hypobetalipoproteinemia 1 term browser
Symbol Object Name 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 chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        lipid metabolism disorder 1570
          hypolipoproteinemia 18
            hypobetalipoproteinemia 11
              familial hypobetalipoproteinemia 1 1
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          inherited metabolic disorder 5525
            lipid metabolism disorder 1570
              Dyslipidemias 279
                hypolipoproteinemia 18
                  hypobetalipoproteinemia 11
                    Familial Hypobetalipoproteinemia, Apolipoprotein B 2
                      familial hypobetalipoproteinemia 1 1
paths to the root