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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:Mannosidase Deficiency Diseases
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Accession:DOID:9003847 term browser browse the term
Definition:Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.
Synonyms:exact_synonym: Mannosidase Deficiency Disease;   Mannosidase Deficiency Syndrome;   Mannosidase Deficiency Syndromes;   Mannosidoses;   Mannosidosis
 primary_id: MESH:D044904;   RDO:0006064
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
alpha-mannosidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase OMIM
ClinVar
PMID:724292 PMID:1472354 PMID:4358183 PMID:9158146 PMID:9370301 More... NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
beta-mannosidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Bank1 B-cell scaffold protein with ankyrin repeats 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:224,530,475...224,800,420
Ensembl chr 2:224,530,475...224,800,405
JBrowse link
G Bdh2 3-hydroxybutyrate dehydrogenase 2 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:223,702,410...223,723,076
Ensembl chr 2:223,702,412...223,723,072
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Cenpe centromere protein E ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:223,637,035...223,695,692
Ensembl chr 2:223,636,998...223,695,669
JBrowse link
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Beta-D-mannosidosis OMIM
ClinVar
PMID:1499588 PMID:1623631 PMID:2079835 PMID:3762648 PMID:9384606 More... NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
JBrowse link
G Slc9b2 solute carrier family 9 member B2 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:223,726,982...223,761,234
Ensembl chr 2:223,736,354...223,761,225
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
G Ube2d3 ubiquitin-conjugating enzyme E2D 3 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:9384606 PMID:12468273 PMID:28492532 NCBI chr 2:223,868,397...223,899,606
Ensembl chr 2:223,868,730...223,898,081
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        inherited metabolic disorder 4671
          lysosomal storage disease 816
            Mannosidase Deficiency Diseases 16
              alpha-mannosidosis + 1
              beta-mannosidosis 15
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            carbohydrate metabolic disorder 2562
              Mannosidase Deficiency Diseases 16
                alpha-mannosidosis + 1
                beta-mannosidosis 15
paths to the root