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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:Tangier disease
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Accession:DOID:1388 term browser browse the term
Definition:A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: A-alphalipoprotein Neuropathy;   A-alphalipoprotein neuropathies;   Alpha High Density Lipoprotein Deficiency Disease;   Analphalipoproteinemias;   Cholesterol Thesaurismoses;   Cholesterol Thesaurismosis;   HDLDT1;   High Density Lipoprotein Deficiency, Tangier Type;   High Density Lipoprotein Deficiency, Type 1;   High Density Lipoprotein Deficiency, Type I;   Neuropathy of Tangier Disease;   TGD;   Tangier disease neuropathy;   Tangier hereditary neuropathy;   analphalipoproteinemia;   familial alpha-lipoprotein deficiency;   familial high density lipoprotein deficiency;   familial hypoalphalipoproteinemia
 related_synonym: ABCA1 POLYMORPHISM
 primary_id: MESH:D013631
 alt_id: OMIM:205400
 xref: GARD:7731;   NCI:C85182;   ORDO:31150
For additional species annotation, visit the Alliance of Genome Resources.


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Tangier disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Tangier disease		 OMIM
CTD
ClinVar
RGD		 PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 PMID:10938021 More... RGD:1600951, RGD:1298571, RGD:19165130 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Tangier disease ClinVar PMID:8282791 PMID:28492532 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          polyneuropathy 111
            Tangier disease 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            lipid metabolism disorder 1146
              Dyslipidemias 338
                hypolipoproteinemia 15
                  Hypoalphalipoproteinemias 4
                    Tangier disease 2
paths to the root