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ONTOLOGY REPORT - ANNOTATIONS


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
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3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B JBrowse link 11 72,285,495 72,434,684 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 16490
    disease of anatomical entity 15415
      nervous system disease 11653
        Neurologic Manifestations 3900
          3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
Path 2
Term Annotations click to browse term
  disease 16490
    disease of anatomical entity 15415
      Hemic and Lymphatic Diseases 1767
        hematopoietic system disease 1481
          leukocyte disease 443
            leukopenia 88
              agranulocytosis 57
                neutropenia 54
                  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.