Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:mucolipidosis III alpha/beta
go back to main search page
Accession:DOID:0080071 term browser browse the term
Definition:A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. (DO)
Synonyms:exact_synonym: ML III;   ML III alpha/beta;   ML IIIA;   MUCOLIPIDOSIS IIIA;   Mucolipidosis type 3 A;   mucolipidosis III;   mucolipidosis type III alpha/beta;   pseudo-Hurler polydystrophy
 narrow_synonym: atypical pseudo-Hurler polydystrophy mucolipidosis III alpha/beta
 broad_synonym: GNPTAB-RELATED DISORDER
 primary_id: MESH:C537367;   OMIM:252600
 xref: ORDO:577


show annotations for term's descendants           Sort by:
mucolipidosis III alpha/beta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: ML III ALPHA/BETA | ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta | ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532 NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		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
        Metabolic Bone Diseases 388
          glycoproteinosis 9
            mucolipidosis III alpha/beta 1
              Mucolipidosis III Alpha Beta, Atypical 1
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
            lysosomal storage disease 995
              lipid storage disease 830
                mucolipidosis 69
                  glycoproteinosis 9
                    mucolipidosis III alpha/beta 1
                      Mucolipidosis III Alpha Beta, Atypical 1
paths to the root