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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: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: ICD10CM:E75.26;   NCI:C84908
For additional species annotation, visit the Alliance of Genome Resources.


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mucosulfatidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sumf1 sulfatase modifying factor 1 ISS OMIM:272200 MouseDO NCBI chr 4:140,139,017...140,220,482
Ensembl chr 4:140,139,003...140,220,487
JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chr12:30,465,025...30,490,683
Ensembl chr12:30,464,676...30,491,102
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          lipid storage disease 465
            sphingolipidosis 50
              mucosulfatidosis 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                Lysosomal Storage Diseases, Nervous System 65
                  sphingolipidosis 50
                    Sulfatidosis 9
                      mucosulfatidosis 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.