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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 inability 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 Syndrome;   Bassen Kornzweig disease;   MTP deficiency;   MTTP-RELATED CONDITION;   acanthocytoses;   acanthocytosis;   betalipoprotein deficiency disease;   betalipoprotein deficiency diseases;   microsomal triglyceride transfer protein deficiency;   microsomal triglyceride transfer protein deficiency disease
 xref: GARD:5;   MESH:D000012;   MIM:200100;   MONDO:0008692;   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)
ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition
CTD Direct Evidence: marker/mechanism
DNA:insertion:cds:c.419-420insA (human)
DNA:mutations:cds:multiple (human) 		ClinVar
CTD
OMIM
RGD		 PMID:1439810 PMID:2903181 PMID:7782284 PMID:8111381 PMID:8361539 More... RGD:1581045, RGD:1581043, RGD:1581044 NCBI chr 2:229,286,501...229,327,650
Ensembl chr 2:229,286,501...229,327,650 		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 chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		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:8111381 PMID:8361539 More... NCBI chr 2:229,286,501...229,327,650
Ensembl chr 2:229,286,501...229,327,650 		JBrowse link
Wolman Disease with Hypolipoproteinemia and Acanthocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis ClinVar PMID:7751811 PMID:7759067 PMID:8146180 PMID:8254026 PMID:8598644 More... NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:241,437,524...241,470,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        lipid metabolism disorder 1908
          hypolipoproteinemia 19
            abetalipoproteinemia 3
              Abetalipoproteinemia Neuropathy 1
              Wolman Disease with Hypolipoproteinemia and Acanthocytosis 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            lipid metabolism disorder 1908
              Dyslipidemias 420
                hypolipoproteinemia 19
                  hypobetalipoproteinemia 11
                    abetalipoproteinemia 3
                      Abetalipoproteinemia Neuropathy 1
                      Wolman Disease with Hypolipoproteinemia and Acanthocytosis 1
paths to the root