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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:beta-mannosidosis
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Accession:DOID:3633 term browser browse the term
Definition:A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. (DO)
Synonyms:exact_synonym: BETA-D-MANNOSIDOSIS;   Lysosomal beta A Mannosidosis;   Lysosomal beta-Mannosidase Deficiencies;   beta Mannosidase Deficiency;   beta-Mannosidoses;   beta-mannosidase deficiencies;   lysosomal beta-mannosidase deficiency
 alt_id: MESH:C538599
 xref: GARD:869;   MESH:D044905;   MIM:248510;   MONDO:0009562;   NCI:C84596
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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:25741868 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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505 		JBrowse link
G Manba mannosidase beta ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:248510
ClinVar Annotator: match by term: Beta-D-mannosidosis | ClinVar Annotator: match by term: Beta-mannosidase deficiency		 OMIM
CTD
MouseDO
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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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 PMID:28942967 PMID:29432562 More... 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 19102
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        inherited metabolic disorder 6605
          lysosomal storage disease 1051
            beta-mannosidosis 16
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            lysosomal storage disease 1051
              Mannosidase Deficiency Diseases 83
                beta-mannosidosis 16
paths to the root