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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:primary hypoalphalipoproteinemia 2
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Accession:DOID:0080958 term browser browse the term
Definition:A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: APOA1 Deficiency;   CORNEAL CLOUDING DUE TO APOLIPOPROTEIN A-I DEFICIENCY;   apolipoprotein A-I deficiency;   deficiency of apolipoprotein A-I
 narrow_synonym: absence of apolipoprotein a-i, due to deletion of apoa1/apoc3/apoa4 gene complex;   primary hypoalphalipoproteinemia 2, autosomal dominant;   primary hypoalphalipoproteinemia 2, intermediate
 related_synonym: APOLIPOPROTEIN A-I (BALTIMORE)
 primary_id: OMIM:618463
 alt_id: DOID:9006651;   OMIM:619836
 xref: GARD:758;   ORDO:425
For additional species annotation, visit the Alliance of Genome Resources.



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primary hypoalphalipoproteinemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (BALTIMORE) | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 OMIM
ClinVar
PMID:1901417 PMID:2108924 PMID:2506176 PMID:2512329 PMID:6800349 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        lipid metabolism disorder 1146
          hypolipoproteinemia 15
            Hypoalphalipoproteinemias 4
              primary hypoalphalipoproteinemia 2 1
                ApoA-I and ApoC-III Deficiency, Combined 0
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          inherited metabolic disorder 4644
            lipid metabolism disorder 1146
              Dyslipidemias 338
                hypolipoproteinemia 15
                  Hypoalphalipoproteinemias 4
                    primary hypoalphalipoproteinemia 2 1
                      ApoA-I and ApoC-III Deficiency, Combined 0
paths to the root