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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 IX
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Accession:DOID:0050809 term browser browse the term
Definition:A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO)
Synonyms:exact_synonym: DEFICIENCY OF HYALURONOGLUCOSAMINIDASE;   MPS IX;   MPS9;   hyaluronidase deficiency;   mucopolysaccharidosis type IX
 primary_id: MESH:C563209
 alt_id: OMIM:601492
 xref: NCI:C129073;   ORDO:67041
For additional species annotation, visit the Alliance of Genome Resources.



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mucopolysaccharidosis IX term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase OMIM
ClinVar
PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 More... NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          carbohydrate metabolic disorder 2568
            mucopolysaccharidosis 107
              mucopolysaccharidosis IX 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            lysosomal storage disease 815
              mucopolysaccharidosis 107
                mucopolysaccharidosis IX 1
paths to the root