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ONTOLOGY REPORT - ANNOTATIONS


Term:mucosulfatidosis
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Accession:DOID:0050441 term browser browse the term
Definition:An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.
Synonyms:exact_synonym: Juvenile Sulfatidosis;   MSD;   Multiple Sulfatase Deficiency;   juvenile sulfatidoses;   multiple sulfatase deficiencies;   multiple sulfatase deficiency disease;   multiple sulfatase deficiency diseases;   multiple sulphatase deficiency disease;   sulfatidosis juvenile, Austin type
 primary_id: MESH:D052517
 alt_id: OMIM:272200;   RDO:0007594
 xref: NCI:C84908
For additional species annotation, visit the Alliance of Genome Resources.


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mucosulfatidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SUMF1 sulfatase modifying factor 1 JBrowse link 3 4,034,714 4,467,282 RGD:8554872
RGD:7240710
RGD:11554173
G SUMF2 sulfatase modifying factor 2 JBrowse link 7 56,064,007 56,080,672 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16491
    Nutritional and Metabolic Diseases 4551
      disease of metabolism 4551
        lipid metabolism disorder 697
          lipid storage disease 375
            sphingolipidosis 48
              mucosulfatidosis 2
Path 2
Term Annotations click to browse term
  disease 16491
    disease of anatomical entity 15468
      nervous system disease 11728
        central nervous system disease 9866
          brain disease 9145
            Metabolic Brain Diseases 518
              Metabolic Brain Diseases, Inborn 451
                Lysosomal Storage Diseases, Nervous System 65
                  sphingolipidosis 48
                    Sulfatidosis 9
                      mucosulfatidosis 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.