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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:galactosialidosis
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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