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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:A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. (DO)
Synonyms:exact_synonym: MSD;   juvenile sulfatidoses;   juvenile sulfatidosis;   multiple sulfatase deficiencies;   multiple sulfatase deficiency;   multiple sulfatase deficiency disease;   multiple sulfatase deficiency diseases;   multiple sulphatase deficiency disease;   sulfatidosis juvenile, Austin type
 primary_id: MESH:D052517
 alt_id: OMIM:272200
 xref: ICD10CM:E75.26;   NCI:C84908


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mucosulfatidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:28492532 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Sumf1 sulfatase modifying factor 1 ISS OMIM:272200 MouseDO NCBI chr 4:141,078,735...141,160,711
Ensembl chr 4:141,078,741...141,160,708 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Multiple sulfatase deficiency ClinVar PMID:12757706 NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          lipid storage disease 830
            sphingolipidosis 149
              mucosulfatidosis 3
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
                      mucosulfatidosis 3
paths to the root