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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:alpha-mannosidosis
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Accession:DOID:3413 term browser browse the term
Definition:A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. (DO)
Synonyms:exact_synonym: Alpha-Mannosidosis, Type I;   Lysosomal Alpha B Mannosidosis;   MANSA;   alpha Mannosidase Deficiency;   alpha mannosidase B deficiency;   alpha-D-mannosidosis;   alpha-Mannosidase Deficiencies;   alpha-Mannosidoses;   deficiency of alpha-mannosidase;   lysosomal alpha D mannosidase deficiency;   lysosomal alpha-D-mannosidase deficiencies
 primary_id: MESH:D008363
 alt_id: OMIM:248500
 xref: GARD:6968;   NCI:C84548
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 Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490 		JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339 		JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689 		JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589 		JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552 		JBrowse link
G Ecsit ECSIT signaling integrator ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390 		JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641 		JBrowse link
G Elof1 elongation factor 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439 		JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193 		JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G LOC102546572 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 7:11,846,077...11,868,732
Ensembl chr 7:11,845,560...11,868,717 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:248500
ClinVar Annotator: match by term: Alpha-Mannosidosis | ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar Annotator: match by term: Mannosidosis, alpha B lysosomal		 OMIM
CTD
MouseDO
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
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695 		JBrowse link
G Ralgdsl3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310 		JBrowse link
G Swsap1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,145,264...20,148,233 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677 		JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828 		JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596 		JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339 		JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864 		JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700 		JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504 		JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798 		JBrowse link
G Zfp866 zinc finger protein 866 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932 		JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395 		JBrowse link
G Zfp873 zinc finger protein 873 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803
Ensembl chr 7:7,926,957...7,951,803 		JBrowse link
G Zfp878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403 		JBrowse link
G Zfp951 zinc finger protein 951 ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756 		JBrowse link
G ZNF69l zinc finger protein 69 like ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896 		JBrowse link
G Znf709l zinc finger protein 709 like ISO ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          lysosomal storage disease 995
            Mannosidase Deficiency Diseases 82
              alpha-mannosidosis 67
                Alpha-Mannosidosis, Type 1 0
                Alpha-Mannosidosis, Type 2 0
                Alpha-Mannosidosis, Type 3 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              Mannosidase Deficiency Diseases 82
                alpha-mannosidosis 67
                  Alpha-Mannosidosis, Type 1 0
                  Alpha-Mannosidosis, Type 2 0
                  Alpha-Mannosidosis, Type 3 0
paths to the root