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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:3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
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Accession:DOID:0110003 term browser browse the term
Definition:An autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. (OMIM)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type 7;   3-methylglutaconic aciduria type VII;   3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia;   MEGCANN;   MGA7;   MGCA7
 primary_id: OMIM:616271
 alt_id: RDO:9001304
 xref: ORDO:445038
For additional species annotation, visit the Alliance of Genome Resources.


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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia OMIM
ClinVar
PMID:25595726, PMID:25597510, PMID:25597511, PMID:25650066, PMID:25741868, PMID:26916670, PMID:27290639, PMID:28492532, PMID:28554332, PMID:28687938, PMID:32313153 NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Neurologic Manifestations 4188
          3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1645
          leukocyte disease 498
            leukopenia 124
              agranulocytosis 64
                neutropenia 60
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.