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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:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. (DO)
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
 narrow_synonym: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, autosomal recessive;   3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant
 xref: EFO:0009014;   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 ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
3-methylglutaconic aciduria type 7a 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, TYPE VIIA OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link
3-methylglutaconic aciduria type 7b 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 OMIM NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        Neurologic Manifestations 6242
          3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
            3-methylglutaconic aciduria type 7a 1
            3-methylglutaconic aciduria type 7b 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      Hemic and Lymphatic Diseases 3441
        hematopoietic system disease 2992
          leukocyte disease 920
            leukopenia 389
              agranulocytosis 324
                neutropenia 320
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 1
                    3-methylglutaconic aciduria type 7a 1
                    3-methylglutaconic aciduria type 7b 1
paths to the root