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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;   arlysulfatase K deficiency;   mucopolysaccharidosis type X
 primary_id: OMIM:619698
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:34916232 NCBI chr 2:5,575,727...5,631,370
Ensembl chr 2:5,574,322...5,631,467
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        inherited metabolic disorder 4671
          carbohydrate metabolic disorder 2562
            mucopolysaccharidosis 107
              Mucopolysaccharidosis X 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            lysosomal storage disease 816
              mucopolysaccharidosis 107
                Mucopolysaccharidosis X 1
paths to the root