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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:Pseudoarylsulfatase A Deficiency
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Accession:DOID:9002922 term browser browse the term
Synonyms:primary_id: MESH:C565403


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Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency ClinVar PMID:8101038 PMID:15326627 PMID:15720392 PMID:24001781 PMID:25741868 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        neurodegenerative disease 4894
          demyelinating disease 520
            Hereditary Central Nervous System Demyelinating Diseases 113
              metachromatic leukodystrophy 47
                Pseudoarylsulfatase A Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 149
                    Sulfatidosis 50
                      metachromatic leukodystrophy 47
                        Pseudoarylsulfatase A Deficiency 1
paths to the root