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 QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) 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) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 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 PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster 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:galactosialidosis
go back to main search page
Accession:DOID:0080540 term browser browse the term
Definition:A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: COMBINED DEFICIENCY OF SIALIDASE AND BETA GALACTOSIDASE;   GSL;   Goldberg syndrome;   Lysosomal Protective Protein Deficiency;   Lysosomal protective protein, deficiency of;   NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION;   NGBE;   PPCA deficiency;   cathepsin A deficiency;   deficiency of cathepsin A;   neuraminidase deficiency with beta-galactosidase deficiency;   protective protein-cathepsin A deficiency
 narrow_synonym: Galactosialidosis, Adult;   Galactosialidosis, Late Infantile;   Galactosialidosis, early Infantile
 primary_id: MESH:C536411
 alt_id: OMIM:256540
 xref: GARD:3953;   NCI:C129928;   ORDO:351
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
galactosialidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: Galactosialidosis, adult | ClinVar Annotator: match by term: Galactosialidosis, early infantile | ClinVar Annotator: match by term: Galactosialidosis, late infantile OMIM
ClinVar		 PMID:1756715 PMID:2148053 PMID:3149149 PMID:8514852 PMID:8968752 More... NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase ClinVar NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase ClinVar NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase ClinVar NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        inherited metabolic disorder 4718
          lysosomal storage disease 818
            galactosialidosis 4
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          inherited metabolic disorder 4718
            lysosomal storage disease 818
              galactosialidosis 4
paths to the root