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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:Hypoalphalipoproteinemias
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Accession:DOID:9002117 term browser browse the term
Definition:Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.
Synonyms:exact_synonym: FHA;   FHD;   Familial Hypoalphalipoproteinemia;   Familial Hypoalphalipoproteinemias;   HDL Cholesterol, Low Serum;   HDL Lipoprotein Deficiency Disease;   HDLC;   HDLD;   HIGH DENSITY LIPOPROTEIN DEFICIENCY;   Hypo alpha Lipoproteinemia;   Hypoalphalipoproteinemia;   familial alpha lipoprotein deficiency disease;   hypo alpha lipoproteinemias
 primary_id: MESH:D052456
 alt_id: RDO:0004371
For additional species annotation, visit the Alliance of Genome Resources.



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Hypoalphalipoproteinemias 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease
CTD
ClinVar
PMID:10431237 PMID:18776170 PMID:19202195 PMID:21860089 PMID:23559627 More... NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
JBrowse link
Norum disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lcat lecithin cholesterol acyltransferase ISO ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease ClinVar
OMIM
RGD
PMID:1516702 PMID:1571050 PMID:1662503 PMID:1681161 PMID:1737840 More... RGD:1581778 NCBI chr19:33,834,748...33,838,214
Ensembl chr19:33,834,403...33,838,231
JBrowse link
G Slc12a4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Fish-eye disease ClinVar PMID:1571050 NCBI chr19:33,838,418...33,860,369
Ensembl chr19:33,838,419...33,860,331
JBrowse link
primary hypoalphalipoproteinemia 1 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: :
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:7945562 PMID:10431236 PMID:10431237 PMID:10706591 PMID:10938021 More... RGD:1298571 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: Hypoalphalipoproteinemia, primary, 1 ClinVar PMID:1901417 PMID:8240372 PMID:17303779 PMID:20884842 PMID:21443680 More... NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
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
JBrowse link
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 ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Tangier disease
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
OMIM
RGD
PMID:10431236 PMID:10431237 PMID:10535983 PMID:10706591 PMID:10938021 More... RGD:1600951, RGD:19165130, RGD:1298571 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 18030
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        lipid metabolism disorder 1146
          hypolipoproteinemia 15
            Hypoalphalipoproteinemias 4
              High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14 0
              Norum disease 2
              Tangier disease 2
              primary hypoalphalipoproteinemia 1 2
              primary hypoalphalipoproteinemia 2 + 1
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
                    High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 14 0
                    Norum disease 2
                    Tangier disease 2
                    primary hypoalphalipoproteinemia 1 2
                    primary hypoalphalipoproteinemia 2 + 1
paths to the root