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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:Mucopolysaccharidosis X
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Accession:DOID:9000814 term browser browse the term
Definition:An autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature, and skeletal, cardiac and ophthalmologic abnormalities. Caused by homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.
Synonyms:exact_synonym: ARSK deficiency;   MPS10;   arylsulfatase K deficiency;   mucopolysaccharidosis type X
 primary_id: OMIM:619698

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Mucopolysaccharidosis X term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsk arylsulfatase family member K ISO ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY OMIM
ClinVar		 PMID:25741868 PMID:34916232 NCBI chrNW_004936523:7,736,515...7,786,370
Ensembl chrNW_004936523:7,736,021...7,786,569 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6754
      disease of metabolism 6754
        inherited metabolic disorder 5216
          carbohydrate metabolic disorder 2564
            mucopolysaccharidosis 41
              Mucopolysaccharidosis X 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5216
            lysosomal storage disease 882
              mucopolysaccharidosis 41
                Mucopolysaccharidosis X 1
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