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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:Methylmalonic Aciduria and Homocystinuria, cblJ Type
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Accession:DOID:9005863 term browser browse the term
Synonyms:exact_synonym: MAHCJ
 primary_id: OMIM:614857
 xref: NCI:C183526

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Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chrNW_004936488:3,526,875...3,538,851
Ensembl chrNW_004936488:3,523,344...3,538,858 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          homocystinuria 78
            Methylmalonic Aciduria and Homocystinuria 20
              Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
Path 2
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        acquired metabolic disease 2142
          nutrition disease 838
            Malnutrition 302
              nutritional deficiency disease 287
                Avitaminosis 185
                  Vitamin B Deficiency 138
                    hyperhomocysteinemia 110
                      homocystinuria 78
                        Methylmalonic Aciduria and Homocystinuria 20
                          Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
paths to the root