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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:hyperalphalipoproteinemia 1
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Accession:DOID:0111369 term browser browse the term
Definition:A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in CETP on chromosome 16q13. (DO)
Synonyms:exact_synonym: CETP deficiency;   HALP1
 narrow_synonym: HDLCQ10;   HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10
 primary_id: OMIM:143470
 xref: NCI:C128806
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                hyperalphalipoproteinemia 1 0
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            lipid metabolism disorder 1149
              Dyslipidemias 339
                familial hyperlipidemia 311
                  Hyperlipoproteinemias 68
                    cholesterol-ester transfer protein deficiency 1
                      hyperalphalipoproteinemia 1 0
paths to the root