Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
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 1 166,739,372 166,866,095 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        Neurologic Manifestations 3606
          3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      Hemic and Lymphatic Diseases 1724
        hematopoietic system disease 1452
          leukocyte disease 443
            leukopenia 119
              agranulocytosis 56
                neutropenia 53
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.