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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: DOID:9005813;   RDO:0008009
For additional species annotation, visit the Alliance of Genome Resources.


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Path 1
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  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal dominant disease 2311
                hyperalphalipoproteinemia 1 0
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          inherited metabolic disorder 1887
            lipid metabolism disorder 744
              Dyslipidemias 282
                familial hyperlipidemia 261
                  Hyperlipoproteinemias 34
                    cholesterol-ester transfer protein deficiency 1
                      hyperalphalipoproteinemia 1 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.