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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:abetalipoproteinemia
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Accession:DOID:1386 term browser browse the term
Definition:A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. (DO)
Synonyms:exact_synonym: ABL;   Bassen Kornzweig Disease;   Bassen Kornzweig Syndrome;   Betalipoprotein Deficiency Disease;   MTP deficiency;   acanthocytoses;   acanthocytosis;   betalipoprotein deficiency diseases;   microsomal triglyceride transfer protein deficiency;   microsomal triglyceride transfer protein deficiency disease
 primary_id: MESH:D000012
 alt_id: OMIM:200100
 xref: GARD:5;   NCI:C84525
For additional species annotation, visit the Alliance of Genome Resources.



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abetalipoproteinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mttp microsomal triglyceride transfer protein ISO DNA:missense mutations:cds:multiple (human)
DNA:mutations:cds:multiple (human)
DNA:insertion:cds:c.419-420insA (human)
ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency
OMIM
ClinVar
RGD
PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 PMID:8533758 More... RGD:1581045, RGD:1581044, RGD:1581043 NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Acanthocytosis ClinVar PMID:1696010 PMID:2527366 PMID:8343110 PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
Abetalipoproteinemia Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mttp microsomal triglyceride transfer protein ISO ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy ClinVar PMID:1439810 PMID:2903181 PMID:7782284 PMID:8071315 PMID:8533758 More... NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        lipid metabolism disorder 1157
          hypolipoproteinemia 15
            abetalipoproteinemia 2
              Abetalipoproteinemia Neuropathy 1
              Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            lipid metabolism disorder 1157
              Dyslipidemias 340
                hypolipoproteinemia 15
                  hypobetalipoproteinemia 10
                    abetalipoproteinemia 2
                      Abetalipoproteinemia Neuropathy 1
                      Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
paths to the root