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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:Schindler disease
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Accession:DOID:0112317 term browser browse the term
Definition:A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)
Synonyms:exact_synonym: Alpha-N-Acetylgalactosaminidase Deficiency;   Alpha-Naga Deficiency;   Naga Deficiency
 xref: ORDO:3137


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Schindler disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency ClinVar PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2564952 More... NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
Kanzaki disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: Schindler disease type 2 OMIM
ClinVar		 PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2564952 More... NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 ClinVar PMID:25741868 NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333 		JBrowse link
Schindler disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 | ClinVar Annotator: match by term: NAGA deficiency, type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1131374 PMID:1313741 PMID:2243144 PMID:2372288 PMID:2889023 More... NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 ClinVar PMID:25741868 NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333 		JBrowse link
Schindler disease type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3 ClinVar PMID:2372288 PMID:8071745 PMID:8782044 PMID:11251574 PMID:11313741 More... NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8516
      disease of metabolism 8516
        inherited metabolic disorder 6602
          lysosomal storage disease 1049
            Schindler disease 2
              Kanzaki disease 2
              Schindler disease type 1 2
              Schindler disease type 3 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal recessive disease 6942
                Schindler disease 2
                  Kanzaki disease 2
                  Schindler disease type 1 2
                  Schindler disease type 3 1
paths to the root