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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 IAGP ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY
ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase
ClinVar
OMIM
PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 More... NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    Nutritional and Metabolic Diseases 7407
      disease of metabolism 7407
        inherited metabolic disorder 4956
          carbohydrate metabolic disorder 2525
            mucopolysaccharidosis 114
              mucopolysaccharidosis IX 1
Path 2
Term Annotations click to browse term
  disease 22115
    Developmental Disease 16640
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14376
        genetic disease 13728
          inherited metabolic disorder 4956
            lysosomal storage disease 845
              mucopolysaccharidosis 114
                mucopolysaccharidosis IX 1
paths to the root