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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 Neuropathy
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Accession:DOID:9006098 term browser browse the term
Synonyms:primary_id: MESH:C540309
 alt_id: RDO:0004606
For additional species annotation, visit the Alliance of Genome Resources.


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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:8361539 PMID:8533758 PMID:8939939 PMID:9671739 PMID:10446076 PMID:10679949 PMID:10946006 PMID:12630961 PMID:16721486 PMID:17275380 PMID:18027103 PMID:18611256 PMID:19066957 PMID:20592474 PMID:22236406 PMID:23475612 PMID:24842304 PMID:25108285 PMID:27170061 PMID:27271787 PMID:27487388 PMID:27578136 PMID:28492532 PMID:30522860 NCBI chr 2:243,366,181...243,407,608
Ensembl chr 2:243,366,181...243,407,608
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        lipid metabolism disorder 906
          hypolipoproteinemia 14
            abetalipoproteinemia 2
              Abetalipoproteinemia Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          inherited metabolic disorder 2233
            lipid metabolism disorder 906
              Dyslipidemias 288
                hypolipoproteinemia 14
                  hypobetalipoproteinemia 9
                    abetalipoproteinemia 2
                      Abetalipoproteinemia Neuropathy 1
paths to the root