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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 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		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 2:227,203,998...227,474,008
Ensembl chr 2:227,203,998...227,474,037 		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 2:226,376,346...226,397,010
Ensembl chr 2:226,376,356...226,397,006 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		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 2:226,310,970...226,369,636
Ensembl chr 2:226,300,798...226,369,636 		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 2:226,502,517...226,527,325
Ensembl chr 2:226,502,517...226,540,080 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:28492532 PMID:30311386 NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Beta-D-mannosidosis ClinVar PMID:25741868 NCBI chr 1:147,957,931...147,980,708
Ensembl chr 1:147,957,935...147,981,046 		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 2:226,583,968...226,676,520
Ensembl chr 2:226,583,917...226,676,517 		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 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088 		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 2:227,839,058...228,113,560
Ensembl chr 2:227,839,062...228,113,554 		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 2:226,845,686...226,992,668
Ensembl chr 2:226,929,644...226,992,667 		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 2:226,442,892...226,502,966
Ensembl chr 2:226,442,892...226,491,941 		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 2:226,400,358...226,435,039
Ensembl chr 2:226,410,263...226,435,030 		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 2:225,940,497...226,037,756
Ensembl chr 2:225,940,444...226,037,756 		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 2:226,543,194...226,571,001
Ensembl chr 2:226,540,531...226,573,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          lysosomal storage disease 1054
            beta-mannosidosis 16
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            lysosomal storage disease 1054
              Mannosidase Deficiency Diseases 83
                beta-mannosidosis 16
paths to the root