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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 II
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Accession:DOID:12799 term browser browse the term
Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. (DO)
Synonyms:exact_synonym: Hunter Syndrome;   Hunter Syndrome Gargoylism;   Hunter's syndrome;   Hunters syndrome;   I2S Deficiency;   IDS DEFICIENCY;   Iduronate 2 Sulfatase Deficiency;   Iduronate Sulfatase Deficiency;   MPS II;   MPS II - Hunter syndrome;   MPS2;   MUCOPOLYSACCHARIDOSIS, MPS-II;   Mucopolysaccharidosis 2;   Mucopolysaccharidosis Type 2;   Mucopolysaccharidosis Type II;   SIDS deficiency;   deficiency of iduronate-2-sulphatase;   sulfoiduronate sulfatase deficiency
 narrow_synonym: mucopolysaccharidosis type II, mild form;   mucopolysaccharidosis type II, severe form
 primary_id: MESH:D016532
 alt_id: OMIM:309900
 xref: GARD:6675;   ICD10CM:E76.1;   NCI:C61260;   ORDO:580
For additional species annotation, visit the Alliance of Genome Resources.



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mucopolysaccharidosis II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ids iduronate 2-sulfatase ISO DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form
OMIM
ClinVar
RGD
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... RGD:1599819, RGD:12910721 NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Neurodevelopmental Disorders 6147
        intellectual disability 3942
          X-Linked Intellectual Developmental Disorders 754
            mucopolysaccharidosis II 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              developmental disorder of mental health 4864
                specific developmental disorder 4125
                  intellectual disability 3942
                    X-Linked Intellectual Developmental Disorders 754
                      mucopolysaccharidosis II 1
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